A 39-year-old man presented to our clinic with nausea and headache. He reported that these symptoms had waxed and waned for five years and were aggravated for three weeks before admission. His medical history revealed that he had been diagnosed with a pituitary microadenoma at the age of thirty four with symptoms of polyuria, polydipsia, and severe headache. Initial sellar MRI showed a pituitary microadenoma with stalk deviation and thickening (). An anterior pituitary function test revealed minimal elevation of prolactin (20.2 ng/mL) with no other significant abnormalities. He began to take lisuride hydrogen maleate, which decreased his serum prolactin level. Although intranasal vasopressin therapy significantly relieved the polyuria and polydipsia, his headache did not subside, and, thus, intermittent low-dose steroid therapy was performed based on clinical evidence suggesting that corticosteroids can treat migraine and cluster headache []. Interestingly, his headache responded effectively to steroid therapy, and the size of the pituitary mass was decreased with improvement of stalk deviation as compared to the initial sellar MRI ().
After discharge, the patient had a symptom-free period of three years with intermittent steroid therapy. However, nine months before the current admission, his headache recurred with severe olfactory-induced emesis. These symptoms did not respond to steroid therapy as previously. Due to the enlargement of the pituitary tumor on the follow-up sellar MRI, gamma knife radiosurgery was performed (), but his symptoms aggravated.
When readmitted because of progressive worsening of the symptoms, he was presenting with general weakness and weight loss of 13 kg during the previous six months (from 66 kg to 53 kg) without sign of dehydration, skin rash, or pigmentation. Galactorrhea was not observed. The testes retained a normal size and consistency, but beard was decreased. His visual field was intact, and there was no focal neurologic abnormality.
The patient's serum creatinine level was 1.3 mg/dL, and serum calcium was 12.1 mg/dL. His 24-hour urinary calcium was above normal (484.77 mg/day). Parathyroid hormone (PTH) was lower than normal (5.7 pg/mL), while PTH-related peptide (PTHrP) was normal (1.1 pmol/L). The level of 1,25-dihydroxyvitamin D was lower than normal (3.3 pg/mL), while the level of 25-hydroxyvitamin D was normal (11.5 ng/mL). A thyroid function test revealed normal levels of free T4, T3 (free T4 1.64 μg/dL, T3 204 ng/dL) and low level of TSH (0.06 μU/mL). Thyrotropin binding inhibitory immunoglobulins (TBII) was 13.9%. Combined pituitary stimulation tests were consistent with panhypopituitarism. The results of a tuberculin skin test and interferon-gamma release assays for latent tuberculosis infection were negative. The level of angiotensin converting enzyme (ACE) was normal (17 U/L). There was no evidence of infectious disease.
His follow-up brain MRI indicated that the lesion initially regarded as a pituitary microadenoma had become larger (13 mm) with contrast enhanced T1-weighted images. In addition, the mass was extended into the right cavernous sinus and caused narrowing of the internal carotid artery, as confirmed by the digital subtraction cerebral angiography (). Thickening of the pituitary stalk with deviation to the left also reappeared (). After a thorough radiologic review of previous MRI findings and the clinical and laboratory data, we determined that the pituitary lesion was the result of an inflammatory disease, such as neurosarcoidosis or lymphocytic hypophysitis.
Surgical biopsy for diagnostic confirmation was postponed due to the small size of the mass and stenosis of the right cavernous internal carotid artery, both of which could cause serious surgical complications. Instead, high-dose steroid therapy was planned to resolve the impending obstruction of the internal carotid arteries and severe headache with the presumptive diagnosis of neurosarcoidosis.
Saline hydration lowered the patient's serum creatinine level to 1.0 mg/dL, but hypercalcemia was not easily corrected even after several days of adequate hydration. Oral administration of 300 mg hydrocortisone rapidly corrected the hypercalcemia to 8.0–9.0 mg/dL, and the symptoms of headache and olfactory-induced emesis were also relieved. Given the characteristic findings of the sellar MRI and the resolution of the patient's hypercalcemia after steroid therapy, panhypopituitarism, and central diabetes insipidus, neurosarcoidosis of the pituitary gland was strongly suggested.
After three months of prednisolone therapy with dose tapering, an apparent reduction in size of the infiltrating pituitary lesion was observed on sellar MRI (). After nine months, the patient's combined pituitary stimulation tests showed improvement of the anterior pituitary function with no need for hormone replacement therapy. The patient is currently taking desmopressin and oral calcium carbonate. Sellar MRI at forty-eight months revealed no evidence of recurrence ().


A 24 year-old man was admitted to the emergency department because of an abdominal injury following a stab wound which occurred on the same day. He said he was assaulted one hour before his admission by a stab wound in the right iliac fossa. His assailant used a sharp instrument (kitchen knife).The physical examination showed a conscious patient hemodynamically stable whose temperature was 37°C, whose pulse rate was 80 beats/min, whose respiratory rate of 20 breaths/min and whose blood pressure was 130/80 mmHg. Abdominal examination was normal out of mild tenderness at the abdominal wound which was located in the right iliac fossa. Laboratory investigations showed that the hemoglobin level was 12.8 g/dl, and the white blood cell count was 9800/mm3. Abdominal ultra sonography (US) was normal. So, a non operative management was decided. The penetrating abdominal wound (2 centimeters in length) was located in the right iliac fossa. It was disinfected and sutured. The day after his hospitalization, he had acute right iliac fossa pain. On examination, he was found to have a blood pressure of 120/80 mmHg, a pulse rate of 80 beats/min and a respiratory rate of 20 breaths/min; he was mildly pyrexial at 37.5°C. Abdominal examination revealed tenderness in the right iliac fossa. Laboratory investigations showed that the hemoglobin level was stable, but the white blood cell count was significant for a leukocyte count of 14,000/mm3 with 80% polymorphonuclear leukocytes. Then, abdominal US showed acute appendicitis (Figure ). An emergency operation was performed. At laparotomy, a right paracolic retroperitoneal hematoma was detected. The patient had pelvic appendix in position. The appendix was hyperemic and edematous. Hematomas of the caecal wall and of the appendiceal wall were found (Figure ). Appendectomy was performed. Histopathology confirmed diagnosis of acute appendicitis. Our patient made an excellent recovery, and he was discharged from the hospital in stable condition 2 days later.
This study was performed according to the declaration of Helsinki and approved by the Local Ethical Committee.


In this report, we describe a retrospective, interventional case of a 54-year-old Caucasian woman who presented at our eye emergency department following a splash injury of the left eye with sodium hydroxide. This report was reviewed and approved by the ethics committee of the University of Rome “La Sapienza.”
At the first examination, her visual acuity (VA) was light perception in the left eye. Her eyelids and conjunctiva were congested. A slit-lamp examination showed a diffuse corneal epithelial defect, stromal edema, and localized Descemet’s folds. She was treated with 1% dexamethasone sodium phosphate drops six times daily, 1% atropine drops three times daily, and tobramycin six times daily. The corticosteroid prednisone 50mg was administered daily for the first 10 days, then the daily dose was gradually tapered by 5mg every 15 days. Three months later, despite the frequent use of topical steroids a symblepharon with superficial and deep corneal neovascularization was observed (Figure ). The patient’s VA was 0.5 logarithm of the minimum angle of resolution (LogMAR). We suggested administering a subconjunctival bevacizumab injection in the left eye with the aim of reducing corneal neovascularization. Written, informed consent was obtained from the patient after explaining the off-label use of bevacizumab on the basis of two case reports [,]. A subconjunctival injection of 0.05ml (1.25mg) of sterile, undiluted, commercially available bevacizumab (Avastin®; Genentech, South San Francisco, CA, USA) was administered with topical anesthesia in the subconjunctival space close to the corneal limbus and adjacent to the pathological blood vessels. After the procedure, the patient was advised to use 0.3% ofloxacin and 1% dexamethasone sodium phosphate drops three times daily for one week. One week after the subconjunctival bevacizumab injection, the vessels appeared thinner and the corneal opacity was clearer. The patient’s VA improved to 0.3LogMAR after one week. Three weeks later her VA had not changed, and the vessels started to perfuse again. A second subconjunctival bevacizumab injection was then given. Two weeks after the second injection her VA improved to 0.1LogMAR and corneal neovascularization was significantly reduced. Notably, three months later her vision was unchanged and the neovascularization remained stable (Figure ). During the next months, the patient’s condition was well-controlled, and, at the end of follow-up 24 months later, her VA and clinical condition were unaltered.


In January 2012 a 63 year-old woman presented to the Department of Obstetrics and Gynecology of “Tor Vergata” University of Rome because of a pruritic vulvar plaque with irregular margins appeared three months before in the vulvar paraclitoral commissure area. Her family history did not reveal malignancies in first-degree relatives and her past medical history was unremarkable. She was 2 gravida 2 para and referred no previous gynecological pathologies. At gynecological examination vagina, cervix and uterus appeared normal, on the contrary a vulvar indurated and ulcerated lesion was observed (maximum diameter = 4 cm). The mass involved the clitoris and both the right and left majus and minus labium. Two excisional biopsies were taken from the primary lesion that documented a VIN3. Extended second biopsy was needed for the quickly increase of the plaque. Histological evaluation revealed nodules of neoplastic cells with the features of severe anaplasia. Immunohistochemistry the tumor was positive for vimentin, focal positivity with AE1-AE3 CK, CK5 and high molecular weight cytokeratin and negative for EMA, CD34, desmin, myosin, CroA, synaptophysin and S100. It was defined a proximal-type ephitelioid sarcoma (PES), a very infrequent kind of sarcoma. The initial diagnosis was successively confirmed by another external pathologist. Surgical margins were positive. The patient was prior submitted to a total body CT scan that did not reveal distant metastasis and a week after the diagnosis she underwent radical vulvectomy and bilateral inguinal lymph node dissection by Micheletti’s classic surgical technique
[]. The pathologist diagnosis confirmed a proximal-type ephitelioid sarcoma of the vulva.
Histologically the tumor was composed of nodules of polygonal epithelioid and spindle cells circumscribe areas of central hyalinization and necrosis (Figure
A). The nodular pattern was composed by large cells with amphophilic cytoplasm. The tumor nodules were surrounded and infiltrated by inflammatory cells. Nuclei were large and vescicolar and nucleoli were overshot (Figure
B). Immunohistochemistry the tumor was positive for vimentin, smooth muscle actin and Ki-67; focal positivity with AE1-AE3 CK, CK5 and high molecular weight cytokeratin and negative for EMA, CD34, desmin, myosin, CroA, synaptophysin and S100 (Figure
C).
The surgical margins were free of neoplasm. One of 35 inguinal lymph nodes was metastatic. Following surgical treatment, adjuvant radiotherapy was planned. Nowadays at a 14 months-follow-up the patients is free of disease.


A 44-year-old African American male with end-stage renal disease from hypertensive nephrosclerosis received a four-antigen mismatch, flow crossmatch negative deceased donor kidney transplantation. The patient received IL-2 receptor antagonist (Basiliximab) for induction and tacrolimus, mycophenolate mofetil (MMF), and prednisone for maintenance immunosuppression. The serological status for cytomegalovirus (CMV) was donor positive/recipient negative, and the patient received trimethoprim-sulfamethoxazole and valganciclovir for infection prophylaxis. After the transplant, the patient developed slow graft function (definition: serum creatinine (SCr) >3.0 mg/dL (265.2 μmol/L) on day 5 without requiring dialysis). Subsequently, allograft function improved with SCr decreasing to 2.33 mg/dL (205.97 μmol/L, eGFR 38 mL/min/1.73 m2) on day 19. On subsequent followup, SCr increased to 2.81 mg/dL (248.40 μmol/L, eGFR 30 mL/min/1.73 m2) on day 22 and his urinalysis showed persistent microscopic hematuria (RBC 10–100 cells/μL) with few atypical epithelial cells with no definite decoy cells. Since the rise in SCr could not be attributed clinically to volume status or tacrolimus toxicity (trough levels remained between 8 and 10 ng/mL), allograft ultrasound and biopsy were performed on day 24. The ultrasound showed an unexpected increase in echogenicity with poor corticomedullary differentiation, but the perfusion and resistive indices (from 0.54 to 0.63) were normal.
Renal allograft biopsy showed a diffuse severe inflammation consisting of mostly macrophages, neutrophils, and lymphocytes with few noncaseating granulomatous lesions (Figures and ). The most unique feature was the presence of extensive necrosis and basophilic hyperchromatic smudgy intranuclear inclusion bodies in the tubular epithelial cells (). Additionally, there was widespread tubular basement membrane disruption. The tubulitis was minimal with no glomerular inflammation or vasculitis. The immunostain for polyoma (BK virus) and CMV were negative. The immunofluorescence (IF) for IgG, IgA, IgM, C3, C1q, fibrinogen, kappa, and lambda in the glomeruli, and C4d stain in the peritubular capillaries were negative. Periodic acid Schiff and Jones stains were negative for bacteria or fungi. Other routine investigations such as blood and urine cultures, routine viral cultures, PCR assay for Epstein-Barr, and CMV and BK viauses were all negative. Electron microscopy (EM) showed several foci of viral particles of varying densities in the nuclei of tubular epithelial cells (Figures and ), but the crystalloid aggregates were atypical for AdV. Because necrotizing granulomatous interstitial nephritis in the presence of smudgy intranuclear viral inclusions is considered characteristic of AdV, additional investigations such as immunohistochemical (IHC) staining, in situ hybridization, and AdV quantitative PCR in the serum and urine were requested. The IHC stain and in situ hybridization for AdV were negative, but the AdV real-time quantitative PCR (QPCR) assay showed >2,000,000 copies/mL in the urine (normal <500 copies/mL, Focus Diagnostics, MICROLAB, Cypress, CA, USA) and 646,642 copies/mL in the serum as shown in . A clinical diagnosis of ADVIN was confirmed based on high viral load in the serum and urine with characteristic morphological findings on the biopsy.
Necrotizing adenovirus tubulo-interstitial nephritis.
Subsequent to confirmation of AdV interstitial nephritis, immunosuppression was minimized significantly by discontinuation of MMF, reducing prednisone to 5 mg daily with a goal tacrolimus trough level from 4 to 6 ng/mL. Despite reduction in immunosuppression, the hospital course was transiently complicated by development of symptoms of intermittent fever, macroscopic hematuria, diarrhea, and mild shortness of breath. The chest X-ray showed bibasilar patchy opacities likely representing pneumonia. Consequently, a reduced dose intravenous cidofovir at 2.5 mg/kg because of impaired allograft function and intravenous immunoglobulin (IVIG) 500 mg/kg was initiated () for possible early dissemination. The patient responded to therapy with resolution of all systemic symptoms within a week. The patient received two additional doses of cidofovir biweekly which he tolerated without adverse events including nephrotoxicity. Subsequently, a vigilant increase in immunosuppression guided by AdV quantitative PCR was initiated in order to prevent the potential for allograft rejection. The allograft function gradually improved to a final SCr level of 1.53 mg/dL (132.6 μmol/L, eGFR 63 mL/min/1.73 m2) during his followup. The timeline of interventions, resolution of AdV infection, and the improvement in allograft function are shown in .


Our patient is a previously healthy 38-year-old, G2P2, Caucasian female. Her past medical history includes two cesarean deliveries, a tubal ligation, appendectomy, and excision of a benign breast tumor. She denied any family history of gynecologic cancers and any personal history of venereal disease. Her gynecologic history is otherwise normal. She had presented for her annual checkup with complaints of painless swelling of the left labia majora that had been progressively worsening over the past 3 years ever since her last cesarean delivery. She had raised this concern to several primary care providers (PCPs) and with previous physical examinations, she was reassured that it was likely postoperative labial swelling that followed the cesarean delivery and would likely resolve with time. Upon interviewing her, she reported numbness of the skin overlying the swollen area and denied any discharge, pruritis, pain to palpation, or any urinary symptoms. She did however complain of progressively worsening dyspareunia and consequently affected her quality of life. Gynecologic examination showed an enlarged left labia majora. It contained an elongated, soft, nonmobile, nontender, sausage-like mass measuring approximately 12 × 6 × 4 centimeters extending longitudinally between the mons pubis and the anal verge along the left labial fold. There was no evidence of any overlying skin infection, erythema, or drainage. Her physical exam was otherwise within normal limits. Abdominal and pelvic computed tomography (CT) with oral and intravenous contrast showed left labial edema, no ascites, and no inguinal or pelvic lymphadenopathy. This lesion was localized within the vulva and did not extend beyond the pelvic diaphragm (). The CT scan could not exclude a vulvar mass. The differential diagnosis at this juncture included a labial neoplasm, cyst of the canal of Nuck (abnormal outpouching of the peritoneum extending into the labia majora), and a hernia. The decision to surgically explore this suspected lesion was taken. Once the skin was dissected away, it was evident that this lesion was a mass. The patient had an uneventful intraoperative course with complete excision of this mass () and an estimated blood loss of 150cc. On gross examination, the mass comprised of soft tissue measuring up to 16 cm in diameter and was well circumscribed (). The cut surface showed a well-encapsulated fleshy tan gelatinous mass. Intraoperative frozen section of the specimen showed a spindle cell soft tissue tumor. The final pathology using H&E staining showed widely scattered bland spindle cells with ill-defined cytoplasm within a myxoid background with accompanying thin and thick-walled vascular structures all of which are characteristic of an aggressive angiomyxoma (). A second opinion at Mayo Clinic confirmed the finding. The postoperative course was uneventful. The patient had complete resolution of the swelling and remains asymptomatic 5 years later.


A 52-year-old Japanese woman with a 12-year history of psoriasis started anti-TNF-α therapy with adalimumab for exacerbation of skin lesions. The patient was not a habitual drinker and had no concomitant medications at the onset of the therapy. Hepatobiliary enzymes prior to therapy were within normal limits: asparate aminotransferase (AST) 20 U/L (normal value 8–38), alanine aminotransferase (ALT) 24 U/L (normal 4–44), and γ-glutamyl transferase (GGT) 43 U/L (normal 16–70). Hepatitis B surface antigen and anti-hepatitis C virus antibody were negative. Antinuclear antibodies (ANAs) measured using ELISA were also negative, 9.7 index (cutoff < 20).
Two months later, after six doses of adalimumab, she developed malaise with liver damage that continued after the discontinuation of adalimumab. A blood test three months after discontinuation showed the following: AST 240 U/L, ALT 224 U/L, alkaline phosphatase 723 U/L (normal 104–338) and GGT 228 U/L. Whilst serological tests for hepatitis A, B, and C viruses, Epstein-Barr virus, and cytomegalovirus were all negative, her serum immunoglobulin G levels were elevated (1969 mg/dL; normal 870–1700) and homogeneous and speckled-type ANAs were both present at titers of 1 : 160. Anti-smooth muscle antibody, anti-mitochondrial antibody, and anti-DNA antibody were negative. A percutaneous liver biopsy four months after discontinuation of adalimumab showed marked portal lymphoplasmacytic inflammation with periportal interface hepatitis and scattered lobular necroinflammatory changes (). Accordingly, we diagnosed the patient as AIH and this was confirmed using simplified international diagnostic criteria (score 8 points; definite AIH ≥ 7) []. The patient was treated with 30 mg of prednisolone per day (0.5 mg/kg/day: standard initial therapy regimen for AIH in Japan) for 2 weeks with the reduction of the dose by 5 mg every 2 weeks, and the maintenance dose was set at 5 mg per day. Two months later, her hepatobiliary enzymes returned to normal. While the patient is still under the maintenance therapy, the relapse of AIH has not been observed.


A four-year-old girl was admitted because of fever and vomiting. Her family and past histories were unremarkable except for bronchial asthma of her father. She had frequent and periodic fever since she was two years old. She had been admitted five times because of prolonged fever, and diagnosed as pneumonia, tonsillitis, acute otitis media and sinusitis. She had febrile periods (38 °–40 °C) lasting 4 to 7 days every 4 to 8 weeks. She often complained of mild arthralgia in knee joints and had diarrhea frequently. She often showed cervical lymphoadenopathy, tonsillitis and hepatomegaly without stomatitis. She was admitted at this time because of fever which continued for 5 days, vomiting and increased acute inflammatory laboratory data (white blood cell 11.000/μl, CRP 8.9 mg/dl). She also complained of sore throat and diarrhea.
Her height was 104 cm (+0.93SD), and weight was 14 kg (−0.66SD). Her blood pressure was 114/72 mmHg, and heart rate was 128 per minutes, respiratory rate was 26 per minutes. Her tonsil was reddish and enlarged. Cervical lymphoadnopahty was accompanied without hepatosplenomegaly. Her laboratory findings were not remarkable except for increased acute inflammatory responses. All bacterial cultures were negative. Her urinalysis was normal. Chest and sinusoidal X-ray, abdomen and heart echogram were all normal. Without antibiotics her fever decreased naturally after 8 days, and her CRP and count of White blood cells normalized. Her IgD was extremely high as 25.69 mg/dl (181.9 IU/ml). Other laboratory findings were as follows: white blood cells 11.000/μl (neutrophiles 78.9%, eosininophile 0.0%, basophile 0.3%, lymphocytes 13.9%, monocytes 6.9%), red blood cells 4.15 × 106/μl, Hemoglobin 11.0 g/dl, hematocrit 33.8%, platelets 196 × 103/μl, total protein 7.3 g/dl, albumin 4.1 g/dl, aspartate transaminase (AST) 28 U/L, alanine aminotransferase (ALT) 3 U/L, Lactate Dehydrogenase (LDH) 521 U/L, alkaline phosphatase 278 U/L, γ-glutamyltranspeptidase (GTP) 10 U/L, Total birilubin 0.51 mg/dl, BUN 8.7 mg/dl, Creatinin 0.22 mg/dl, beta-2 microglobulin 1.14 mg/l, ferritin 126.1 ng/dl, CRP 8.9 mg/dl, Erythrocyte Sedimentation Rate 91 mm/hour, 2–5 oligoadenylate synthetase 180 pmol/dl, IL-6 15 pg/ml, Serum Amyloid A (SAA) 1100 μg/l (<8 μg/l), IgG 1488.0 mg/dl, IgA 127.0 mg/dl, IgM 180.0 mg/dl, IgE 848.1 IU/ml. IgG subclass were within normal range. RAST was positive for egg white. C3, C4 and CH50 were 167 mg/dl, 44 mg/dl, 52.3 U/ml, respectively. Anti-nuclear antibody, anti-DNA antibody and LE factor were negative. ASLO was below 60 IU/ml. The titer for adenovirus (CF) was below ×4. EBV-VCA IgM and EBV-EBNA were below ×10. EB virus DNA was below 2.0 × 10/106cells. Mevalonic acid showed 10 ng/ml in serum, and 115 ng/ml in urine, respectively. Both levels were higher than those of healthy controls. Restriction Fragment Length Polymorphism (RFLP) and direct sequencing for V377I and I268T were negative []. From the data of high IgD and her clinical symptoms she was diagnosed as non-classic HIDS. Without tonsillectomy ibuprofen (20 mg/kg) was effective to shorten the duration of febrile episodes (from 7 to 2–3 days) for 3 years. However, the levels of IgD were constantly high without any other symptoms. The levels of IgD were normal before 4 years earlier, which are shown in .


A 51-year-old male with a mass in the abdominal cavity was referred to the Yantai Yuhuangding Hospital (Yantai, Shandong, China). Following a CT examination, a plain scan revealed cystic and solid masses in the abdominal cavity with large low-density areas. The largest mass measured ~19×9×13 cm. The masses involved the mesentery, omental bursa and retroperitoneum, with uneven density and a CT value of 19–46 HU (). Subsequent to scanning enhancement, the solid components of the masses exhibited mild to moderate inhomogeneous enhancement with membrane separation () and encased the mesenteric vessels and portal veins. No clear border was observed between the local masses and the surrounding organs. The patient was hospitalized for an abdominal tumor resection. During the surgery, the border between the masses and the surrounding tissues and structures remained unclear and the surface of the masses was speckled. The post-operative pathology report indicated a PNET (). The patient received systemic chemotherapy following surgery; however, 4 months later, multiple pulmonary metastases were detected. Despite receiving salvage chemotherapy, the patient succumbed 10 months after the diagnosis.


A 53-year-old female with precordialgia and chest tightness was referred to the Yantai Yuhuangding Hospital. No obvious abnormality was identified on the clinical laboratory tests. Using a CT examination that was performed following hospitalization, a plain scan was performed on the right side of the pericardium to obtain an image of the cystic hypodense shadow, in which a homogenous density, a thicker cyst wall and calcification were observed (). Subsequent to scanning enhancement, the lesion wall changed significantly, but the middle portion of the lesion did not show significant enhancement. The lesion invaded the right ventricular wall and protruded into the right ventricle cavity (). After assessing the results of the pre-operative examination, a thoracotomy was performed on the patient in order to resect the right pericardial mass. The mass resembled fish flesh and was ~17×16×18 cm in size. The cut surface of the mass was broken and jagged and displayed necrosis. Post-operative immunohistochemistry revealed small, round, blue-stained cells that were tightly arranged. Based on the combined results of the morphology and immunohistochemistry, the diagnosis of a primitive PNET was considered (). The patient had no further treatment and had no complications. The patient was well in the 6-month follow-up after surgery.


A 26-year-old male with exophthalmos was referred to the Yantai Yuhuangding Hospital. The MRI examination revealed a mass at the base of the anterior cranial fossa involving the right orbital, sphenoid and pituitary glands. The mass invaded the intracalvarium, in which the four ventricles were deformed by compression. The mass displayed a T1-weighted image (T1WI) signal, compared with the muscle, which represented an area of bone destruction or bone marrow replacement (). At a higher T2WI signal, a cyst was observed (). Following the enhanced MRI, the solid components of the tumor demonstrated inhomogeneous enhancement (). Following hospitalization, the patient underwent a resection for a biopsy of the mass at the local skull base. The sections were stained with routine hematoxylin and eosin (HE) and the report indicated a PNET. The patient received regional radiotherapy following surgery. Three months later, the patient developed hydrocephalus and the cerebrospinal fluid was positive for neoplastic cells. No other treatment was administered and the patient succumbed.


An 80-year-old man presented with a primary complaint of left knee pain for five months. He had undergone TKA with a posterior stabilized-type prosthesis (Scorpio Superflex, Stryker Orthopedics, Mahwah, NJ, USA) due to a neuropathic joint seven years ago and had been doing well since. Several days before his visit to our hospital, he had sprained his left knee and became unable to walk.
An anteroposterior radiograph showed a radiolucency 1 mm in depth beneath the lateral aspect of the tibial component (, arrow), and the lateral view indicated a condylar fracture (, arrow). We had planned to perform a revision TKA using a more strongly constrained-type knee prosthesis shortly thereafter, but this surgery had to be postponed because methicillin-resistant staphylococcus aureus (MRSA) was detected in a skin ulcer on his left calf. Although his peripheral leukocyte count was within normal limits (6.8 × 103/μL), his serum C-reactive protein level was elevated to 5.3 mg/dL (normal range <0.3 mg/dL) and synovial fluid bacterial cultures were negative. Stress radiographs for the left knee taken before the primary TKA showed severe joint destruction and instability (Figures –), strongly suggesting neuropathic arthropathy. His hemoglobin A1c was 5.4%, and both the serological test for syphilis and Treponema pallidum hemagglutination test were negative. MRI images of the cervical and thoracic spine were normal, and syringomyelia was ruled out. However, he had been diagnosed wiyh primary amyloidosis and followed by neurophysicians. Peripheral nerve conduction velocity was severely delayed, suggesting neuropathic arthropathy due to amyloidotic polyneuropathy.
The skin ulcer did not completely heal for three months, during which time the patient was hospitalized with his left knee immobilized in a long-leg brace and administered with lipoprostaglandin E1. The patient did not understand our directions however, sometimes moving his left knee or walking around his room. As a result, the intra-articular bony fragments grew larger to form giant, ectopic ossified masses (Figures and , arrows). To clarify the position of the popliteal artery with relationship to the ossified masses, we performed digital subtraction angiography (DSA) and confirmed that the popliteal artery was shifted posteriorly by the displaced femoral component and was very close to the ossified mass that appeared to adhere to the posterior capsule.
The patient underwent revision surgery using a rotating hinged-type prosthesis (Modular Resection System, Stryker Orthopedics, Mahwah, NJ, USA). Two large ossified masses (12 × 4 and 8 × 4 cm in size, ) were firmly adhered to the posterior and medial capsules but were successfully and completely extirpated. Hematoxylin-eosin staining of the ossified masses showed typical structures of mature spongiosa (). Eight weeks following surgery, the patient was permitted to walk with full weight-bearing on the left knee which was immobilized by a long-leg brace. The patient was discharged from the hospital 12 weeks after surgery.
Five months after surgery, however, the patient was readmitted to our hospital because of left foot gangrene and a periprosthetic fracture of the femur. His left leg was amputated above the knee, and he was discharged three months after amputation.


A 3-year and 5-month-old boy was admitted to our dental clinic for treatment of his extensive carious and infectious teeth. His skin was dry with well-demarcated lesions, and there were plaques of mild hyperkeratosis on the knees and elbows. Eyebrows and eyelashes were completely absent. The hair was short, dry, and sparse. He had a cochlear implant because of sensorineural hearing loss. The patient consulted an ophthalmologist for eye functions. The ophthalmologist did not note any visual problem of the patient. The patient had a history of Atrial Septal Defect (ASD) that continued until 2 years of age and later closed spontaneously. Since the patient had a neurosensory deafness, his ability to speak was less than his peers. However, he was uncooperative, but not mentally retarded. The patient's physical appearance had the typical findings of KID syndrome except for the diagnosis of “pigeon chest (pectus carinatum),” although he had no respiratory problems due to pigeon chest (). He can walk by himself without any assistance. None of his family members were physically and medically disabled.
He had not received any dental treatment before. The oral mucosa was unremarkable. Intraoral examination of the child's tongue, lip mucosa, buccal mucosa, hard and soft palate, and sublingual region revealed no pathological findings. Hypoplasia, diffuse or limited opacities, fluorosis, and developmental abnormalities such as dentinogenesis imperfecta and amelogenesis imperfecta were not seen on the enamels or enamel residues. However, teeth 81, 82, 83, 84, 85, 72, 73, and 74 were vital; but with extensive caries. Teeth 51, 53, 52, 54, 55, 61, 63, 64, and 65 were nonvital because of severe caries. Two pediatric dentists diagnosed s-ECC (severe early child caries) by considering family history and dental findings (Figures and ). From ages 3 to 5, one or more cavitated, missing (due to caries), or filled smooth surfaces in primary maxillary anterior teeth or a decayed, missing, or filled score of ≥4 (age 3), ≥5 (age 4), or ≥6 (age 5) surfaces also constitutes s-ECC [].
The child declaimed against the dental treatment and his skin was overstretched and sensitive. Also, he came from a rural area. Since the treatment could not be provided in dental office conditions, we discussed and decided that his dental treatment would be best provided under general anesthesia in a hospital setting.
Before each treatment session, he was referred to a cardiologist, a general pediatrician, and a radiologist in order to clear his medical status for general anesthesia. General anesthesia was induced by 2% sevoflurane using a face mask, according to a standard protocol, after an injection of the neuromuscular blocker agent, vecuronium. The anesthesia was maintained by intravenously administered propofol. Atropine and neostigmine were administered to reverse the vecuronium-induced muscle relaxation when the dental procedures were completed. The patient was intubated nasotracheally in order to obtain unobstructed surgical access into the patient's mouth, which was kept open using a molt mouth prop. A saliva ejector was used to control oral moisture, and aspiration was prevented by placing moist sterile gauze in the pharyngopalatine area. The local anesthetic agent, articaine with epinephrine, was used when oral surgery and endodontic treatment were required.
The aim of this dental treatment was to restore his aesthetics, speech, and chewing capacity and to eliminate the chronically infected teeth.
The carious lesions of teeth 81, 82, 83, 72, and 73 were removed using round steel burs and the cavities were then prepared using self-etch dentin bonding agent, followed by incremental compomer resin restoration. Sof-Lex discs were used for contouring and polishing of the restored teeth.
The pulp of the three teeth (84, 85, and 74) was removed by a spoon excavator, and bleeding was arrested with gentle pressure from a sterile cotton wool pledget (CWP) moistened with saline. A 20% ferric sulphate solution was applied to pulp stumps for 15 seconds via a CWP. After CWP was removed, zinc oxide-eugenol cement was directly placed over pulp stumps, and then the tooth was restored with high viscosity glass-ionomer cement. The prefabricated stainless steel crowns (SSC) (3M/ESPE, St. Paul, MN, USA) for pulpotomised 84, 85, and 74 teeth were cemented using luting resin-modified glass-ionomer cement.
The root canals of teeth 51, 53, 61, and 63 were filled with a calcium hydroxide + iodoform mixture paste. Then, mixture paste was removed from root canal for a distance of 2 to 3 mm. The coronal part was reconstructed by a strip crown plus compomer.
The local anesthetic agent, articaine with epinephrine, was injected before tooth extraction. The chronically infected six teeth (52, 54, 55, 64, 65, and 75) were extracted and their alveolar sockets were sutured.
After completion of the dental treatments, the patient was transferred to the recovery room, where he recovered uneventfully from the general anesthesia. All dental procedures were completed without any problems, and the entire operation took about 90 minutes. After an oral examination (), he was discharged from the hospital the next day.
The restorations were evaluated in terms of color, aesthetics, phonetics, and parent's general satisfaction. Their scores for each evaluation criterion at each follow-up visit were ranged from excellent to good [].


In February 2010, an 18-month-old Korean girl presented with ECC at the Wonkwang University Dental Hospital (). She harbored a fear for dental treatment and was treated using Carigel (FORYOUDENT, Busan, Korea) to avoid the risk of pulp exposure when using a high-speed hand-piece.
According to the manufacturer's instructions, the 2 syringes in which the gel is supplied were maintained at room temperature for approximately 1 hour before treatment []. Carigel was applied to the affected area by using a microbrush (). After 30 seconds, the gel was absorbed by using hand instrument 1, exclusively designed for Carigel. Caries was removed by using dedicated hand instruments 2 and #3. The process of applying the gel and removing caries by using hand instruments was repeated twice (). After the process of removing caries was completed, a 3-way syringe was used to wash the area to prevent the removed caries residue and gel from remaining on the tooth surfaces. A celluloid crown (3M ESPE, USA) was selected according to the size of the affected tooth after washing, and its shape was modified by clamping after cutting it to the appropriate length. The RelyX Unicem (3M ESPE, USA) was mixed with an automixer and then injected into the crown form followed by an expert surgeon applying the crown form to the affected tooth, which was then removed after photopolymerization ().


In August 2009, a 16-month-old Korean girl presented with ECC at the Wonkwang University Dental Hospital (Figures and ). Caries did not invade the pulp, but was very close to the pulp (). She was treated using Carigel (Foryoudent, Busan, Korea) to avoid the risk of pulp exposure while using a high-speed hand-piece. After the process of removing caries was completed, a 3-way syringe was used to wash the area to prevent the removed caries residue and gel from remaining on the surface of the tooth. A celluloid crown (3M ESPE, USA) was selected according to the size of the affected tooth after washing, and its shape was modified by clamping after cutting it to the appropriate length (). RelyX Unicem (3M ESPE, USA) was mixed with an automixer and then injected into the crown form () followed by application of the crown form to the affected tooth, which was then removed after photopolymerization ().


In May 2013, a 22-month-old Korean girl presented with ECC at the Wonkwang University Dental Hospital (Figures and ). She was treated using Carigel (Foryoudent, Busan, Korea) to avoid the risk of pulp exposure while using a high-speed hand-piece. She was treated using Carigel and RelyX Unicem (3M ESPE, USA) in the same way as case 2. In order to avoid anterior teeth biting, 54 and 64 teeth were restored with blue resin ().
To meet the rising aesthetic needs, resin-bonded composite strip crowns are the preferred choice of many clinicians, mainly because of the superior aesthetics and the ease of repair in the event that the crown chips or fractures []. Restoration of the primary incisors with single bond and Z100 using strip crowns (all by 3M ESPE Dental Products, Seefeld, Germany) is popularly performed in some countries. At our hospital, we also generally used the packable resin Z100 (P shade) as the restorative material for filling the strip crown. In this case, the strip crown could be selected and RelyX Unicem (3M ESPE Dental Products, USA) was used instead of Z100. RelyX Unicem is a unique resin cement. The flexural strength of RelyX Unicem is 63 MPa, which is lower than that of Z100, a packable resin, whose flexural strength is 160 MPa. However, considering that restored primary teeth are used for a shorter period than permanent teeth, RelyX Unicem has the following merits: (1) the dentists performing the procedure do not require any special skills, (2) it facilitates decreased occurrence of bubbles during injection of the material, and (3) it involves a relatively shorter time. Therefore, it is more appropriate for the treatment of caries in pediatric patients, in whom behavioral management may be difficult.
Here, we have reported one such case in which RelyX Unicem was used for the restoration in ECC. We applied this method to a number of children. The majority of patients used restoration until restored deciduous tooth was replaced by permanent tooth (). However, to stably use RelyX Unicem as a generally accepted restorative material for primary teeth in pediatric patients with ECC, it is important to compare its physical properties such as microstrength and polymerization shrinkage to those of other restorative materials, which have been traditionally used in laboratories. Further studies must be performed to evaluate the long-term prognosis of ECC treated with Carigel and strip crowns using RelyX Unicem.


A 39-year-old female was admitted to Shaoxin Hospital on December 1, 2008 due to lower abdominal pain and discomfort for a duration of four days. Prior to admittance, the patient experienced lower abdominal pain with no obvious incentive, continuing perineum radiation pain with nausea, but without vomiting, and syncope once for ~30 sec. No chills, fever or other particular discomfort were noted and the patient had no history of surgery, trauma or radiotherapy. A physical examination revealed pain, a flat abdominal area and mild lower abdominal tenderness, but no rebound tenderness. A 6×5-cm tender mass was palpated in the left ovarian area. An ultrasound examination revealed a 6.9×4.6-cm mixed echo mass in the left side of the pelvic cavity; irregular dark areas and free dark areas were observed in the surrounding area of the mass and in the Pouch of Douglas, with cloudy areas of light (). The laboratory examination revealed no abnormalities in the blood, urine, stool, blood coagulation ability, biochemistry or tumor marker levels. Laparoscopic surgery was performed under intravenous anesthesia with endotracheal intubation on December 4, 2008. A 6×5-cm mass was identified on the greater omentum, located posterior to the annex and next to the left side of the uterus. The tumor was completely resected. Intraoperative frozen pathological observations revealed a malignant omentum tumor. Therefore, an omentum resection was performed. No remarkable abnormalities were identified in the abdominal cavity following a careful investigation. The microscopical examination of the paraffin sections revealed that the tumor had no capsule, but was intertwined with the greater omentum. The tumor cells were of various sizes and shapes. Dark stained nuclei and pathological karyokinesis were observed in the cells. The tumor cells were exhibiting infiltrating growth into the greater omentum (). Large amounts of tumor sclerotin were observed among the tumor cells (). Heterogeneous multi-core tumor giant cells and chondroblastoma islands were also observed. The cells were positive for vimentin and CD99 expression, but negative for cytokeratin (CK), calretinin (CR), epithelial membrane antigen (EMA), CD117, CD34, CD68, smooth muscle actin (SMA) and desmin expression by immunohistochemistry. The tumor recurred at three months post-surgery (). Chemotherapy was performed, including vincristine (1.4 mg/m2 i.v. on day 1), cyclophosphamide (750 mg/m2 i.v. on day 1) and doxorubicin (50 mg/m2 i.v on day 1) for 6 cycles; however, the patient demonstrated a poor response. The patient succumbed to systemic failure with lung metastases on June 30, 2009.


A twenty-eight-year-old Caucasian male soldier presented to primary care with the complaint of lower back pain for two-day duration. His pain began three days after running a ten mile race with his military unit. During the race, he reported feeling dehydrated but denied any falls or injuries. He had no past medical history, and his only previous surgery was a right inguinal hernia repair performed at age twenty-five. The patient denied recent trauma, surgery, immobilization, or family history of thrombotic disorder. His only medication was ibuprofen as needed. He was an active smoker of one pack per week for the past three years and reported only social use of alcohol.
The patient's vital signs were within normal limits, and his exam was notable only for lumbar paraspinal muscle tenderness. A lumbar spine plain film showed no abnormalities. He was diagnosed with musculoskeletal lumbar pain and provided with a nonsteroidal anti-inflammatory drugs. Ten days after the onset of pain, he noticed lower extremity swelling and returned to care. At this time, he was noted to have moderate to severe pitting edema in the bilateral lower extremities to the mid-thigh, worse on the right, and dependent erythema bilaterally.
A deep venous thrombosis was suspected, and the patient was referred to the emergency department for expedited workup. A fibrin d-dimer was elevated at 7.74 mcg/mL. Blood counts were notable for a normocytic anemia with hemoglobin 10.9 g/dL, hematocrit 32%, and mild thrombocytopenia (platelet count 100,000/μL). A urinalysis showed 1+ hematuria and no proteinuria. Additional studies including hepatic function panel, electrolyte panel, and brain natriuretic peptide were within normal limits. Doppler ultrasounds of the lower extremities were performed with no evidence of venous thromboembolism visualized. A transthoracic echocardiogram and electrocardiogram did not demonstrate any abnormalities.
A contrast CT of the abdomen and pelvis demonstrated diffusely dilated veins of the lower abdomen and pelvis, suggestive of a proximal venous obstructive process. A triphase liver CT ruled out hepatic congestion and Budd-Chiari syndrome but showed a long segment filling defect involving the infrarenal IVC (). MRI abdomen was performed to characterize the extent of clot burden and clarify anatomy. It confirmed thrombus in the right common femoral vein, left distal external iliac vein into the infrarenal inferior vena cava. There was no evidence of involvement of the renal veins.
Because of the patient's young age, the large size of his thrombosis, and the severity of his symptoms, localized thrombolysis with tissue plasminogen activator was attempted. Follow-up venogram showed only minimal improvement in venous flow. The patient was anticoagulated with warfarin and was referred for caval and bilateral iliac drug eluting stents. After the procedure, good return of flow was noted; the patient had decreased swelling and pain, and his mild anemia and thrombocytopenia were corrected. He was subsequently anticoagulated with a planned 3 months of antiplatelet treatment with clopidogrel and 3–6 months of anticoagulation with warfarin. He did continue to have some lower extremity pain, and he was treated with oxycodone-acetaminophen, venlafaxine, and gabapentin. He ultimately required a referral to the pain management service. He continued to have persistent lower extremity pain and edema, though his symptoms are less than at initial presentation.
Four months after initial stenting, he developed unilateral recurrence of his symptoms and rectal bleeding. He was treated with restenting. His hemoglobin and hematocrit remained at baseline, and his rectal bleeding was resolved spontaneously without cessation of anticoagulation. His warfarin duration is now extended to lifelong anticoagulation.
Because of the extensive nature and unusual location of the patient's thrombosis, an evaluation was performed for hematologic disorders. Laboratory assessment of protein C and S activity, cardiolipin antibodies, factor V Leiden activity, direct Russell's viper venom test, antithrombin III activity, prothrombin gene mutation, methylenetetrahydrofolate reductase gene mutation, and b2 glycoprotein was unrevealing. Malignancy was ruled out with physical exam and imaging.


An obese, 16-year-old, Caucasian female with a 4-year history of T2DM presented to our endocrinology practice for a follow-up visit on October 26th, 2012. She was diagnosed with diabetes at the age of 12 and has a significant family history for Type 2 diabetes and obesity. Her medical history is significant for T2DM complicated by microalbuminuria, depression, and type IV hyperlipidemia. She was referred to the practice for management of T2DM at the age of 14 with a hemoglobin A1c (HbA1c) of 11.47. Her HbA1c has not been below 11% in the past 2 years, including an A1C of 13.4% in July 2012.
In September 2012, the patient presented with her mother for a follow-up visit. The patient stated she tries to control her blood sugar and weight but gets frustrated and reverts to poor habits. Her parents are not helpful in assisting her in managing her medical problems or establishing healthy eating habits. Her weight at this visit was 244 lbs. With a height of 66 inches; her BMI was 39.4 kg/m2. Prior to this visit, she managed her diabetes with insulin glargine 75 units subcutaneously in the morning and 25 units at night, metformin ER 2000 mg once daily, and insulin aspart at mealtime using a coverage scale, as the patient and parents were reluctant to use scheduled mealtime insulin doses. Her HbA1c was 11.19% at this visit. After careful consideration and dutiful explanation to the patient and her mother (including the fact that no other medication is currently approved for use in pediatric patients), consent was given, and liraglutide 0.6 mg subcutaneously daily was added to the patient's diabetes regimen. The patient was instructed to titrate the dose of liraglutide up to 1.8 mg daily over a three-week period.
On October 26th, 2012, the patient returned to the office for a 1-month follow-up visit since the initiation of liraglutide; she was currently using 1.8 mg subcutaneously daily. She reported no adverse effects from the medication and no symptoms of hyperglycemia or hypoglycemia. During this time her HbA1c decreased by 1.53% to 9.66%. In addition, her total daily basal insulin requirement decreased 20% from baseline and she rarely needed insulin aspart for mealtime coverage of glucose excursions. Weight was 11 pounds higher than at her previous visit. Nutritional counseling was again addressed. On November 27th, 2012, the patient returned to the office for a follow-up visit two months after initiation of liraglutide. The patient stated that she has not experienced any symptoms of hypoglycemia or hyperglycemia. Her HbA1c decreased an additional 0.82% to 8.84%, representing a total A1C reduction of 2.35%. The patient's diabetes regimen included liraglutide 1.8 mg subcutaneously prior to dinner, insulin glargine 60 units subcutaneously at bedtime, and metformin ER 2000 mg with the evening meal. Since the initiation of liraglutide the patient's basal insulin requirement has decreased by 40%, and she no longer requires the use of mealtime insulin. Weight at this visit was increased, however, by 1.8 pounds (up to 256.8 pounds and a BMI of 41.4 kg/m2).


A 56-year-old Chinese female gardener presented to the Shanghai Changzheng Hospital with fever, a cough producing yellow-white sputum and fatigue. The therapeutic effect of cefoxitin (4000 mg/day, 14 days) was poor. She had a 5-year history of type 2 diabetes with effective treatment by insulin injection but no history of tuberculosis, chronic obstructive pulmonary disease, asthma or other underlying immunosuppressive diseases. A test for the human immunodeficiency virus was negative, but the β-D-glucan test was positive (459.3 pg/ml). Chest radiography revealed a cavitary lesion in the left upper lobe, and chest computed tomography (CT) showed globate cavities with a radiopaque, gravity-dependent ball (Figure ). Based on these data, the causal agent of the infection was initially thought to be Aspergillus spp. because of the fungus ball’s resemblance to an aspergilloma caused by species such as Aspergillus fumigatus. Histologic sections of the tissue were stained with haematoxylin and eosin (HE) and showed septate fungal hyphae (Figure ). Specimens from the gravity-dependent ball were obtained, and the fungal strain was identified as Penicillium capsulatum via micro- and macro-morphology examination and molecular sequence analysis. For macroscopic examination, the culture was grown for 7 days at 25°C on malt extract agar (MEA), Czapek yeast extract agar (CYA) and yeast extract sucrose agar (YES), and the fungus exhibited restricted growth on all media (13–17 mm) with grey-green sporulating colonies. Growth on MEA plates incubated at 30°C and 37°C was faster (17–25 mm) than at 25°C. Microscopy analysis of the colonies grown on MEA showed short, smooth-walled, monoverticillate Penicillium conidiophores. The conidia were smooth walled and ellipsoid to slightly cylindrical and measured 3.5–4.5 × 2.5–3.0 μm (Figure ). Molecular characterisation of the strain was performed by PCR amplification and sequencing of the ribosomal internal transcribed spacer region as described by Houbraken et al. []. The isolate was deposited in the CBS collection under the accession number CBS 134186, and newly generated sequences were deposited in GenBank. Figure shows that the strain belongs to Penicillium section Ramigena[] and that it is closely related to the type culture of Penicillium capsulatum, CBS 301.48. So we diagnosed this infection as Penicillioma which we created particularly. After pulmonary lobectomy, the patient was cured sequentially by treatment of fluconazole (400 mg/day, 90 days) and caspofungin (70 mg/day, 14 days).
Furthermore, to confirm the antifugal susceptibility in vitro, the clinical isolate CBS 134186 was, together with other environmental P. capsulatum isolates, tested in vitro against seven antifungal agents (amphotericin B, voriconazole, itraconazole, ketoconazole, fluconazole, 5-fluorocytosine, and caspofungin) using the CLSI M38-A2 broth microdilution method []. The results of this analysis are summarized in Table and show that all tested P. capsulatum strains have a low minimal effective concentration (MEC) to caspofungin and a high minimal inhibitory concentration (MIC) to fluconazole. No substantial difference for all seven antifungal agents in antifungal susceptibility was observed between CBS 134186 and the P. capsulatum strains isolated from environmental sources (Table ).


We present the case of a 41-year-old male with a history of herpetic shingles, who had previously undergone a C5-6 foraminotomy two years prior to presentation, which had failed to relieve his right arm pain. Of note, after this surgery he experienced a recurrence of his shingles, which subsequently resolved. He presented to our clinic with continued pain and numbness in a C6 dermatomal distribution, as well as a burning sensation in this distribution, despite the previousely mentioned intervention. Conservative management including epidural steroid injections had failed to improve his symptoms.
On physical examination, he demonstrated full strength in all muscle groups bilaterally. He had no evidence of myelopathic signs. MRI of the cervical spine upon initial presentation to our clinic showed degenerative disk disease at C5-6, with bilateral foraminal stenosis.
Given that he had already undergone attempted foraminal decompression posteriorly, it was decided to proceed with C5-6 anterior cervical discectomy and fusion. The operative course was uncomplicated, the patient tolerated the procedure well, and he was discharged home on postoperative day 1.
Approximately ten days after the procedure, the patient presented to the emergency department with complaints of severe pain in his right upper extremity and a vesicular rash from his elbow to his second digit (). This was consistent with a herpetic shingles outbreak. He was subsequently started on Acyclovir and was discharged home.
At the follow-up visit, his vesicular rash had completely resolved. However, the upper extremity pain, which he had preoperatively, continued. Therefore, the possibility of neuropathic rather than radiculopathy was raised. He was started on neuromodulating agents including Lyrica and nortriptyline for chronic neuropathic pain.


A 63-year-old man presented to an outside hospital with two days of gross hematuria and left flank pain. He was in urinary clot retention and on continuous bladder irrigation at the outside hospital. His past surgical history was significant for an open left nephrolithotomy thirty years ago. His medical history included chronic kidney disease (GFR 87, Cr 0.88, Hb 13.3, CKD Stage G2), nephrolithiasis, and hypertension. His social history was notable for his being a practicing Jehovah's Witness who refused blood products. On physical examination the patient was noted to be obese with a left abdominal mass and a well-healed flank incision. A CT scan of the abdomen and pelvis with contrast revealed a small left renal stone and a 4.6 × 4.5 cm highly vascular mass in the anteromedial portion of the left kidney and profound urothelial thickening (). The patient was transferred to our institution for further evaluation and management.
The patient underwent ureteroscopy, which revealed a small renal stone and no other obvious source of bleeding. A postoperative MRI demonstrated a 6 cm AVM of the left kidney (). Interventional radiology (IR) was consulted and completed a two-stage catheter-directed embolization of the AVM with Onyx (ev3, Plymouth, MN) that resulted in 80–90% decreased flow to the AVM (Figures and ). The AVM was incompletely embolized due to the large number of feeding vessels, the total fluoroscopy time involved, concern for embolization of the entire kidney, and the need to limit the contrast dose due to renal insufficiency. His hematuria and flank pain rapidly resolved after this episode (GFR 68, Cr 1.1, Hb 12).
Four months after the initial embolization, the patient experienced recurrent gross hematuria. IR performed coil embolization of additional arterial branches supplying the renal AVM. Again, his hematuria abated after embolization (GFR 64, Cr 1.15, Hb 12).
Nine months after his initial presentation, he began to develop a chronic normocytic anemia. A full evaluation for sources of bleeding and hematologic malignancies was performed, and the only source of blood loss was felt to be a possible left renal malignancy. In the process of evaluating this anemia, a repeat MRI revealed an enhancing, heterogenous 6 cm mass that was highly concerning for a renal neoplasm arising from the left kidney (). The AVM was present though smaller in size with margins indistinguishable from the mass lesion. Shortly after the MRI, he developed recurrent flank pain and gross hematuria and an urgent left renal angiogram with embolization of the renal artery was performed () (GFR 69, Cr 1.08, Hb 8.3).
The patient's case was presented at a multidisciplinary urology tumor board, and the conclusion was that radical nephrectomy was appropriate in the immediate postangiography setting.
The following day, he underwent a challenging hand-assisted laparoscopic radical left nephrectomy (postoperative GFR 47, Cr 1.5, Hb 7.7, CKD Stage G3a).
Pathologic evaluation of the specimen revealed a T3aNxMx Fuhrman 2/4 7.5 cm RCC, clear cell type. The pathologist noted that prominent vessels, consistent with an AVM, were present next to the tumor ().
A postoperative 6-month follow-up CT scan revealed a 19 mm para-aortic lymph node. He underwent an open retroperitoneal lymph node dissection (RPLND) that revealed metastatic RCC. The patient is alive and disease-free 12 months after nephrectomy and 6 months after RPLND.


A 16-year-old female patient presented with a giant nevus. The conventional approach to treatment would be the implantation of an expander in the buccal or temporal regions. This approach is likely to have involved excessively long additional incisions and visible ‘dog-ear’ deformities. An alternative approach is the use of an expanded forehead flap based on the superficial temporal vessel or an expanded medial arm flap. However, these approaches would take a long time and may have led to obvious donor site morbidities. Instead, a 50-ml rectangular tissue expander was implanted under the nevus and its circumambient normal skin. Partial epidermal removal of the nevus and overlapping suturing of the remaining dermal flaps was conducted to ensure smooth healing of the incision. After 7 weeks of inflation with saline, the nevus was excised with the 3.0×2.5 cm defect and the expanded flaps were transferred and sutured directly without additional incisions. After one year of follow-up, the patient was satisfied with the results ().


A 12-year-old male presented with a congenital nevus on the right forearm. The nevus was 10.0×6.0 cm in size. Reconstruction using an autologous skin graft to repair the defect after nevus excision may have led to a difference in the texture and color of the skin in the recipient area. The patient also was unable to accept resection more than once. Traditional expansion techniques would have involved placing expanders under both sides of the nevus. These approaches are of low efficiency since it is not possible to apply the expanded flap effectively in the transfer process. The resulting wound with additional incision also discomforted. Therefore, the incision was performed inside the nevus and part of the nevus was excised. Overlapping suturing of the dermal tissue was conducted in order to ensure smooth healing of the incision. A 300 ml rectangular tissue expander was implanted under the nevus and surrounding normal skin area. The expander was inflated for 10 weeks. In a second-stage procedure, the nevus was resected completely with only a short incision. One year later, there was no relapse and the scar was acceptable ().


A 17-year-old female presented with a rectangular left facial scar between the temporal and buccal region that was caused by a scald injury in childhood. The scar was 15×7.5 cm in size. The areas of normal skin at the sides of the scar were not sufficient for tissue expansion and transfer. Thus, an incision was performed inside the rectangular scar and two rectangular expanders were implanted under the cicatricial area and ambient normal skin. To ensure smooth healing of the incision, overlapping suturing of the dermal tissue was conducted. After 9 weeks of expander inflation, the facial scar was completely removed and the expanded flap was transferred to the center of the defect. More than three years after surgery, the incision scar was no longer evident and the patient was satisfied with the resulting appearance ().


A 30-year-old female patient presented with a left facial scar caused by a burn in childhood. The scar was 6.0×3.0 cm. A 100-ml expander was implanted under the scar and overlapping suturing of the incision was conducted. The expanded flap was transferred to the center of the defect and the facial scar was completely removed after 8 weeks of expander inflation ().


The patient is a 65-year-old Taiwanese man, a businessman with initial symptoms of intermittent chest pain with mild shortness of breath for two weeks. Chest X-ray showed a mass lesion in the right lower lung field. Chest CT scan showed a 30 × 29 mm heterogeneously enhanced mass lesion with well-defined margin and lobulated contour in the right middle lobe of lung, abutting the mediastinum (). Bronchoscopy showed no endobronchial lesion. He received video-assisted thorascopic lobectomy of right middle lobe of lung and mediastinal lymph nodes dissection.
The pathology, immunohistochemical staining, and in situ hybridization results confirmed LELC of lung. Microscopically, the tumor cells are surrounded by abundant lymphoplasmacytic cells in the stroma. The tumor cells show indistinct cell borders with prominent nucleoli and are closely admixed with infiltrating inflammatory cells. Using in situ hybridization with exhibition of abundant EBV-encoded small nuclear RNA (EBER) in the majority of tumor cells is done, which has become a standard test to display tumor-specific association of EBV. Immunohistochemical staining was positive for cytokeratin (CK), a marker which was almost always positive in LELC of lung []. Immunohistochemical staining for P63 was positive. P63 protein as homologue of the p53 protein, being a powerful marker for squamous differentiation, was expressed, which excluded a glandular or neuroendocrine differentiation ().
Head and neck CT scan and nasopharyngeal fiberscopy were performed and no obvious tumor was found. The patient's postoperative course was uncomplicated, and he was discharged 7 days after operation. Due to advanced stage with parietal pleura invasion and presence of subcarinal lymph node metastasis, postoperative adjuvant chemotherapy was performed on schedule.


A 62-year-old woman was referred to us with ulceration of her left nasal ala, and xeransis of the nasal mucosa (). She had undergone brain tumor excision 4 times in the past 10 years, which led to damage from the third to sixth cranial nerves and decreased sensation in the left side of her face. Approximately 2 years before visiting us, she became conscious of a crust on her nose and developed an injury from scratching the area. She described numbness of the left face, and her family described her unconscious self-manipulation of the nose. The cause of the alar ulceration was first investigated by biopsy. The biopsy result revealed a nonspecific chronic inflammation without evidence of neoplasm and vasculitis. Autoimmune process was also excluded by immunohistochemistry. The results of laboratory tests, including a complete blood count, basic chemistry, antinuclear antibody, rheumatoid factor, cytoplasmic antineutrophil cytoplasmic antibody, and perinuclear antineutrophil cytoplasmic antibody, were all normal. On the basis of the findings of these examinations and the patient's history, we diagnosed her as TTS.
Reconstruction of the ala nasi was conducted in a 2-stage fashion. In the first stage, a left paramedian forehead flap and an auricular chondrocutaneous composite graft from the right concha were transferred to cover the surface and inner lining of the alar defect, respectively. Two weeks later, the pedicle of the forehead flap was divided. Her course was uneventful after the second operation. However, 18 months later, she complained of a spread nostril and subsequent xeransis and crust formation on the nostril floor. As a result, she started scratching her nostril floor, and not the reconstructed ala nasi. Therefore, we narrowed the nostril by Z-plasty, and the ulcer healed spontaneously. Subsequently, she stopped scratching, and the ulceration has not recurred for 22 months ().


A 79-year-old woman was referred to us with a defect of her ala nasi and ulceration of the left nostril floor (). She had undergone a brain tumor resection 14 years previously, which caused the decreased sensation in her left face. She also developed Alzheimer's dementia 7 years previously. Seven months prior to her visit, her family noticed her manipulation of the nose and a crust formation on her left ala nasi. The lesion slowly progressed to an erosive stage and finally resulted in alar tissue loss. Initially, a biopsy was performed, which showed nonspecific chronic inflammation. The blood test did not show any specific abnormality. On the basis of the patient's history, the appearance and location of the ulceration, and the biopsy result, we diagnosed her as TTS.
We planned a 1-stage reconstruction using a nasolabial flap and an auricular chondrocutaneous composite graft from the concha, because she had dementia. Postoperative wound healing was uneventful, but 10 days after surgery, she started scratching the reconstructed nasal ala. The flap was immediately epithelialized by installing a protector, however, she continued to manipulate the reconstructed ala nasi and nasal ulcerations occurred intermittently (). Although we attempted to treat the ulcer with a protector, she continued to scratch the lesion.


A 53-year-old primiparous woman was referred to the cardiothoracic and vascular surgery outpatient clinic of our hospital for further evaluation of chronic cough and hemoptysis. Chest computed tomography (CT) showed a 10 cm solitary lung nodule with haziness in the left upper lobe. The patient’s breathing sound decreased. She did not have any specific past history. She had entered menopause at the age of 50. She had been diagnosed with a small uterine myoma 3 years prior to this presentation but had not received any treatment. She underwent excisional biopsy of the mass. Pathologic diagnosis was benign metastatic leiomyoma. Masson trichrome staining revealed that the tumor cells were of smooth muscle nature (Figure a,b). Immunohistochemical staining was positive for actin. She did not receive further treatment and has remained healthy for 16 years.


A 50-year-old woman (gravid 3, para 3) presented at our clinic with a chief complaint of menorrhagia. Her menstrual periods had been regular prior to this presentation. Transvaginal ultrasonography showed a 10 × 10 cm myoma that was compressing the endometrium. A chest X-ray showed small multiple nodules of variable size in both lower lung fields. She had not previously had pulmonary disease, such as pulmonary tuberculosis or pneumonia. She did not complain of any chest symptoms, such as cough, dyspnea, or chest pain. Chest CT showed multiple small well-defined scattered pulmonary nodules in both lungs. The largest nodule measured 2.7 × 4.4 cm (Figure ). The patient underwent a total laparoscopic hysterectomy along with a video-assisted thoracoscopic lung biopsy. Analysis of the uterine and lung lesions revealed leiomyoma and metastatic leiomyoma, respectively. Immunohistochemical staining was positive for actin (Figure c,d), desmin, estrogen receptors, and progesterone receptors. We decided to monitor the remaining residual lung lesion: if the size of the remaining lung lesion increases, then bilateral salpingo-oophorectomy with gonadotrophin-releasing hormone agonist (GnRH) therapy will be instituted. She has remained healthy for 3 months without evidence of disease progression.


A 49-year-old primiparous perimenopausal woman was referred to the cardiothoracic and vascular surgery outpatient clinic of our hospital for further evaluation of incidental lung masses. A chest X-ray showed a 2.5-cm round nodule in the left lower lobe and a smaller well-defined ovoid nodule in the right upper lobe (Figure ). The patient underwent myomectomy at the age of 42 years and total abdominal hysterectomy at the age of 43 years, due to recurrence. There was no significant family history. The patient had no pulmonary symptoms. Chest CT showed a 2.5-cm well-defined round nodule with poor contrast enhancement in the left lower lobe and a smaller well-defined ovoid nodule in the right upper lobe. The patient underwent a video-assisted thoracoscopic wedge resection of the left lower lobe and right upper lobe.The mass shows a irregular pale brown tissue fragment (Figure ). Pathologic diagnosis was leiomyoma of the lung. Immunohistochemical staining was positive for desmin and actin (Figure e). Transvaginal sonography showed no abnormal findings other than atrophic ovaries. Because the patient was perimenopausal, we decided to monitor her for the progression of the disease. She was healthy without evidence of progression of disease 2 months following the surgery.


A 48-year-old nulliparous perimenopausal woman visited our clinic with a huge abdominal lump. She was diagnosed with systemic lupus erythematosus and underwent uterine myomectomy. She had undergone uterine myomectomy 11 years back. Uterine myoma recurred 1 year ago. Computed tomography showed a 10.5 × 10.5 cm heterogenous, low-density lesion on the right side of the uterus and multiple low-attenuated foci on the left side. There were multiple small nodules in both lungs. The patient underwent total abdominal hysterectomy along with left adnexectomy. She underwent lung needle biopsy of the multiple nodules. Pathologic diagnosis was leiomyoma of the uterus and lung. Immunohistochemical staining was positive for actin ,desmin,estrogen receptor and progesterone receptor (Figure f,g) Ki-67 is less than 1% (Figure h). We decided to observe the residual lung lesion. The patient was healthy without recurrence, for 2 years following the surgery.


A 46-year-old woman presented with nasal congestion, mucopurulent rhinorrhea and nasal obstruction. The symptoms were reported to have started only 3 months earlier. On examination her nasal cavities were filled with necrotic debris and extremely sensitive to touch. In addition, deformity in the form of saddle nose was observed. The soft palate, hard palate, tonsils and posterior oropharyngeal wall were normal.
The patient initially denied any drug abuse, but reluctantly admitted to habitually snorting a crushed preparation of metham- phetamine for 3 years. A CT scan of the paranasal sinus showed mucoperiostal swelling of all sinuses with necrosis of the nasal septum (). The ulcerative process in the patient’s nose was rapidly progressive over the following 4 months.
The patient’s erythrocyte sedimentation rate was normal and the following tests produced no pathological results: complete blood count, liver and renal function tests, serology for syphilis, bacteriological cultures including stains for fungi and tuberculosis, chest radiograph, extensive urine analysis, examination of rheumatoid factors as well as antinuclear and antimitochondrial tests. In an endoscopic examination a large septal perforation accompanied by excessive necrotic tissues in the nasal space was obvious ().
Multiple biopsies of the nose and palate were taken and showed necrosis and ulceration with signs of inflammation, but no evidence for vacuities or granulomatosis (). Further testing for antineutrophil cytoplasmic antibodies (C-ANCA) was negative.


In 2010, a 6-month-old girl with bilateral Tessier facial cleft referred to department of pediatric otolaryngology-head and neck surgery of Tabriz-Iran children hospital. First, a thorough investigation for possibility of associated syndromes and anomalies was conducted. The consultation of pediatrician, neurologist, optometrist and cardiologist did not define any associated anomaly describing a known syndrome. All neuroimaging, hearing studies and urogenital evaluations were normal.
She had a left side No.5 Tessier facial cleft, originating in about 10 mm medial to left commissure vermilion extending upward and laterally, making a groove on the cheek and ending at the middle third of lower eye lid, without evidence of ectropion. The medial cantus was properly in its place, but the lateral cantus was lower compared with the right side. Alveolar ridge was involved in association with unilateral complete cleft palate in the same side. Maxilla was split and rotated three dimensionally into lateral, inferior and posterior. Premaxilla was in its proper place; but, lateral alveolar ridge was rotated in the same manner. On her right side, a very mild No.4 Tessier facial cleft started lateral to phylteral column extending superiorly and lateral to right nasal alar, mildly involving alveolar ridge. No involvement of primary and secondary palate was defined ().
On the left side, the scar like soft tissue was marked from its high point to vermilion, sparing the commissure. Incisions were made through skin and underlying soft tissue to just above the periosteum. Bonny cleft was lateral to infra orbital foramen, therefore, incision over periosteum and dissection in a sub periosteal plane was made. Soft tissue dissection was made in two planes, one under dermal fat and one in subcutaneous plane, up to two millimeters each side of the incision. All soft tissue and periosteum were drawn medially to obscure the bonny cleft as much as possible and infraorbital neurovascular bundle were preserved laterally. Orbicularis oris muscle dissected bilaterally, preserving the zygomatic complex muscles and sutured to each other. Wet and dry mucosa sutured to each other after reconstructing advancement flaps medially and laterally, using two uni limb Z plasties bilaterally ().
On the right side, the same procedure was conducted, which included scar excision, advancing subperiosteal flaps, muscle dissection, reconstructing advancement flaps medially and laterally and one uni limb Z plasty laterally, in conjunction with a back-cut in its upper end to elongate the lateral arm of the incision. Palatoplasty was postponed until the patiant’s10 months of age.
Orbicularis oris function after operation was observed and it was satisfying when the patient cried or laughed. The function of Zygomatic muscles was preserved ().


A 52-year-old Caucasian woman, mother of two children, underwent right hip arthroplasty and was administered LMWH (enoxaparin 8,000 IU per day) for seven days in order to prevent thromboembolic events. Arthroplasty was successfully completed without intraoperative or early postoperative complications, except for a fall in platelet count from 214,000/μL to 116,000/μL. Haemoglobin and white blood cell count were normal. The patient was discharged from the hospital in good condition without any sign or symptom of haemorrhage, thromboembolism or infection.
On postoperative day 9, she presented in the emergency department complaining of abdominal pain, vomiting and weakness. She was dehydrated and tachycardic (105 beats per minute). Decreased skin turgor and low blood pressure (90/60mm Hg) were observed. Biochemical exams indicated hyponatremia (128mmol/L, normal range 136–145) and hyperkalemia (5.97mmol/L, normal range 3.5-5.1), normal serum glucose levels, as well as normal kidney and liver function. The patient was afebrile and the wound healed satisfactory. The administration of isotonic solutions was decided but the patient responded poorly. Intravenous use of dopamine was added thereafter, resulting in slight improvement of clinical symptoms, mainly vomiting and arterial blood pressure. As the abdominal pain was persistent, the patient underwent abdominal CT which was indicative of “bilateral adrenal adenomas”. Due to this finding, the patient was referred to our department for further evaluation.
Considering the clinical signs of dehydration and the presence of hyperkalemia (5.72mmol/L, normal range 3.5-5.1) and hyponatremia (130mmol/L, normal range 136–145), adrenal insufficiency was suspected. Cortisol levels were measured and found to be very low (cortisol 40nmol/l, normal range 70-250nmol/l). A 250-μg adrenocorticotropic hormone (ACTH) stimulation test (Synacthen test) was performed for further evaluation; no increase in cortisol was observed confirming the diagnosis of primary adrenal insufficiency (basal cortisol equal to 32.9nmol/l, 30 and 60 min after Synacthen equal to 34nmol/l and 32.1nmol/l respectively, normal range 70-250nmol/l). ACTH levels were very high (1763.4pg/ml, normal range 9–52). MRI of the upper abdomen showed the presence of bilateral adrenal “lesions” with greatest dimension 2.3cm on the right and 2.5cm on the left. On T2 weighted-images the above mentioned findings had high signal intensity with a low signal intensity ring along the periphery compatible with the presence of haemosiderin consequence of previous haemorrhage and chronic hematomas (Figure ). No signal drop-off on in- and out- of phase images and no significant enhancement following iv contrast was depicted.
Considering the variety of causes that could trigger bilateral adrenal haemorrhage in accordance with the medical history of the patient, traumatic injury, burns or pregnancy were ruled out []. Furthermore, she was afebrile without any clinical signs of septic shock. Antiphospholipid syndrome was excluded due to the absence of vascular thrombosis and the history of two normal deliveries. Based on the fact that the patient had received LMWH postoperatively, haemorrhage was considered to be the cause of adrenal failure. Heparin-PF4-IgG antibodies (measured by enzyme-linked immunosorbent assay [ELISA]) were negative. Moreover, the low pretest clinical score for HIT (total 2 points, 1 point from thrombocytopenia and 1 point from surgery) in the patient was correlated with high- negative predictive value for heparin induced adrenal haemorrhage [].
Replacement therapy with hydrocortisone and fludrocortisone was started. Three months later, ACTH levels fell to 397pg/ml. Adrenal MRI showed that the lesions had decreased in size and had homogeneous low signal on T2 weighted images, findings consistent with the evolution of hematomas (Figure ). The oral replacement with hydrocortisone and fludrocortisone remains until the present time.


The patient was the first conceptus of a 32-year-old Caucasian woman and her healthy and non-consanguineous 36-year-old husband. Early pregnancy and family history were unremarkable. Fetal standard ultrasound scan at the beginning of the 21st gestation week documented micrognathia, generalized shortness of the upper limbs (<5th centile) with severe hypoplasia of forearms containing a single bone and measuring 16 mm on the right and 12 mm on the left, bilateral club hands, left club foot, apparent hypospadias, borderline dilatation of the left lateral ventricle (11 mm) and bilateral pyelectasis (Table , Figure ). Amniotic fluid volume was normal. Amniocentesis was not performed.
External examination of this male fetus at 21st gestation week showed severe shortness of the forearms with radial club hands, moderate shortness of the rhizomelic segment of the upper limbs, flat face with anteverted nares and a receding chin. Flexion contractures and bulbous ends of the fingers were observed at both hands which showed well-formed thumbs. Lower limbs and trunk were unremarkable. The fetus weighted 265.7 g, was long (crown-heel length) 25.5 cm and had a head circumference of 19 cm. Internal examination demonstrated multiple, small bilateral kidney cysts with mild dilatation of the pelvis and megacystis due to stenosis of the lower urinary tract. Hypospadias was not confirmed. At total-body X-ray study noted bilateral absence of the radii and hypoplasia of ulnae and homeri (Figure ). The clinical diagnosis of TAR syndrome was established and molecular testing was performed.
The couple gave informed consent for DNA (deoxyribonucleic acid) analysis, which was approved by local ethic committees in accordance with the guidelines of SIGU (Italian Society of Human Genetics) and recent law concerning genetic data published in “G.U. n.159 11-07- 2011”. Genomic DNA was extracted from the fetus and parental peripheral blood by standard methods. The DNA of the patient was first analyzed by using the commercially available Human Genome CGH (Comparative Genomic Hybridization) Microarray Kit 2x105K (Agilent Technologies, Santa Clara, USA). Labeling and hybridization of patient’s DNA, and pooled male and female control DNAs were performed according to the manufacturer’s protocol. Further analyses and visualization were performed with “Agilent Genomic Workbench version 6.5”. The fetus was found to carry a ~390Kb heterozygous deletion in 1q21.1 which spanned from 145415190bp to 145804738bp (UCSC version GRCh37/hg19, released in February 2009). Genomic DNA of both parents was analyzed in order to determine the parental origin of the deletion, which was subsequently identified in the healthy mother. Genotyping of rs139428292 (G>A) and rs201779890 (G>C) SNPs was carried out by direct sequencing. The following primers were used for polymerase chain reaction (PCR) amplification: Fw-5’- GCCTTTGATTGGTCAGCTTG-3’ (located in the RBM8A 5’UTR) and Rv-5’- AAGGGGGCGGAATCTCTAAT-3’ (located in RBM8A intron 1). Forward and reverse sequences were analyzed and compared with the messenger ribonucleic acid (mRNA) reference sequence (NM_005105). The analysis of rs139428292 showed that the fetus harbored the minor A allele, which was inherited from the healthy father (Figure ). All of them carried the major G allele of rs201779890 in a homozygous state. This information allowed prenatal diagnosis in the following pregnancy of the couple with the identification of a healthy fetus heterozygous carrier of the paternal allele.


A 56-year-old male was admitted to our Hospital in October 2010 because of asthenia, slight fever, and weight loss. Blood examination revealed hemoglobin 7.5 g/dL, platelet count 495,000/uL, white blood cell count 335,000/uL with neutrophils 80%, basophils 10%, myelocytes 6%, and promyelocytes 3%. Lactate dehydrogenase was 1440 U/L. Physical examination revealed splenomegaly. Bone marrow (BM) aspirate showed myeloid hyperplasia. The hematological picture was indicative of accelerated phase chronic myeloid leukemia (CML).
Cytogenetic analysis showed the presence of a t(9;22)(q34;q11) in all examined metaphases ( upper). Fluorescent in situ hybridization (FISH) using the LSI BCR/ABL Dual-Color, Dual Fusion (D-FISH) (Abbott Molecular-Vysis, Des Plaines,IL) showed two fusions, one green and one orange signal (2F1G1O) confirming the presence of the BCR/ABL1 and ABL1/BCR fusion genes without deletions adjacent to the translocation junctions (A).
Real-time quantitative polymerase chain reaction (RQ-PCR) was performed to quantify BCR/ABL1 transcript as described previously . The quantitative results were expressed as percent ratios relative to an ABL1 internal control using the following formula (p210 BCR–ABL/ABL1×100×CF) . The level of BCR/ABL1 expression was 31% at diagnosis (IS).
The patient was first treated with hydroxyurea at 3 g/day for 7 days, after which imatinib (Gleevec, Novartis, Basel, Switzerland) was administered at a dosage of 600 mg/day.
In January 2011, cytogenetic analysis revealed an unexpected t(11;22)(p15;q11) with chromosomes 9 apparently not being involved ( lower). D-FISH signal pattern proved to be 2F1G1O, with one fusion signal on the der(22), a second fusion signal on 11p15, and one orange and one green signal on normal chromosomes 9 and 22, respectively (B). The karyotype was then interpreted as t(9;11;22)(q34;p15;q11) . BCR/ABL1 expression had increased to 39.5% (IS).
The patient was treated with the ICE chemotherapy protocol consisting of idarubicin 8 mg/m2/day, cytarabine (ARA-C) 800 mg/m2 and etoposide 150 mg/m2/day.
In March 2011, cytogenetic analysis was performed again and we observed a high number of metaphases: 49 were normal whereas 23 showed Ph due to the classical translocation. No cells carrying the variant translocation were observed.
The patient was treated again with imatinib 800 mg/day without hematological response.
In June 2011, white blood cell count was 28,300/uL with 5% of blasts. The karyotype was: 49,XY,t(9;11;22)(q34;p15;q11),+6,+9,+der(22)t(9;22). No cells carrying the standard translocation were observed, indicating that for the second time the imatinib therapy had suppressed the t(9;22) clone, thus allowing the reappearance of the t(9;11;22) clone.
In July 2011, the patient underwent allogenic bone marrow transplantation (BMT) from his HLA compatible sister: the karyotype was 46,XX and the patient reached and maintained complete hematological and molecular remission until October 2012.
In November 2012, the patient progressed to myeloid blast crisis and the karyotype became: 47,XY,t(9;11;22)(q34;p15;q11),+der(22).
The patient died in December 2012.


A 65-year-old man has been presenting with intermittent gross hematuria and left flank pain for 3 years. There was no history of renal trauma, urinary tuberculosis, urinary bilharziasis, or other diseases. Physical examination revealed no abnormal findings. Laboratory test results were within normal ranges except for microscopic hematuria. Ultrasonography of the urinary tract and excretory urography were normal. Computerized tomography confirmed retroperitoneal lipoma around the left renal pedicle, 30 mm in diameter, causing a curving of the left renal artery and dilatation of the left renal vein (). His condition was diagnosed as retroperitoneal lipoma that caused abnormal renal arterial traveling and compression of the renal vein. On June 25, 2003, retroperitoneoscopic lipoma resection was performed with the standard 3-port technique. Grossly, lipoma is a yellow lobulated and encapsulated mass (); histopathologically, it consists entirely of mature fat ().
Operation time was 60 minutes without major bleeding. No further episodes of gross hematuria or left flank pain have occurred for 10 years after the operation.


A 65-year-old seemingly well male was referred to our clinic due to hypertension and hypokalemia. He denied any discomfort in the past few months. However, vague symptoms of muscle weakness with cramping, polyuria, and nocturia were noted upon further interview. During his annual health check-up six months ago, he was diagnosed with hypertension and type 2 diabetes mellitus. On physical examination, blood pressure was 148/72 mmHg. There were no purple striae, central obesity, buffalo hump, proximal muscle weakness, or skin hyperpigmentation. His serum potassium level was 2.2 mmol/l. Hormonal studies demonstrated excess of serum cortisol with loss of diurnal pattern, elevated urine free cortisol and a non-suppressible dexamethasone test. The aldosterone level and plasma renin activity were in normal limits. The laboratory results of hormonal studies are summarized in Table . Abdominal computed tomography (CT) showed a 7.8 × 4.8 cm heterogenous lobulated enhancing mass lesion at the right adrenal gland with suspicious local invasion to the posterior segment of the liver (Figure ). To reduce the cortisol level before operation, etomidate 2 mg/hr was infused and the serum cortisol level decreased from 59.95 μg/dl to 13.3 μg/dl in 48 hours. One week after diagnosis, he received surgical removal of his right adrenal tumor, retrocaval lymph nodes and wedge resection of the liver. Grossly, it was a bulky tumor, measuring 11.6 × 7.0 × 5.1 cm in size with irregular border and central necrosis. Microscopic examination revealed a sheet architectural pattern and focal necrosis. The neoplastic cells had acidophilic cytoplasm with pleomorphism, hyperchromasia, and high nuclear grade. There was sinusoidal and capsular invasion. The immunohistochemical stains revealed that the tumor cells were immunoreactive for melan A and alpha-inhibin diffusely and for calretinin focally. Based on the Weiss system, the tumor was classified as adrenocortical carcinoma. The liver and the retrocaval lymph nodes showed evidence of metastasis (Figure ). According to the European Network for the Study of Adrenal Tumors (ENSAT) staging system, the tumor was classified as T4N1M1, stage IV. Shortly after the operation, the patient presented with severe sepsis with recurrent hypercortisolism. The patient and his family refused further therapy under critical status and the patient died as a result of Fournier’s gangrene with septic shock on the 59th day after diagnosis.


A 22-yr old woman (G2 P1011) was admitted as an emergency with a gradual onset severe colicky central abdominal pain 1 week after a termination of pregnancy at 16 weeks gestation. The pain became more frequent on a background of a constant lower abdominal pain. There was associated central abdominal distension, copious bilious vomiting following meals, absolute constipation and fever. There was no vaginal discharge. She had undergone a normal vaginal delivery 15 months previously. On examination she was in great distress, lying still but restless with each episode of colic. She was dehydrated and tachypnoeic. Her blood pressure 100/60 mmHg, heart rate 90/min and temperature 39°C. She had a distended abdomen with visible peristalsis and generalized rebound tenderness. Adnexal structures were unable to be palpated. The clinical impression was small bowel obstruction secondary to peritonitis from a perforated uterus as a complication of the 'D’ and 'C’. Her haemoglobin level was 12.2 gms/d but a white cell count was not available. An abdominal ultrasound scan from the referral clinic revealed a non-gravid uterus with dilated loops of bowel and free intraperitoneal fluid. Following resuscitation with intravenous fluids, nasogastric suction, intravenous antibiotics and analgesia she underwent a laparotomy.
Laparotomy revealed copious (~ 1-2l) amount of clear, 'transudate’ fluid in the peritoneal cavity associated with a markedly distended small bowel. There was a localized area of terminal ileal stricture at the site of adhesion of a right tubo-ovarian abscess of about 6 cm in diameter. Immediately proximal to the stricture was dilated small bowel with serosal tears suggesting impending perforation. There was a short segment of a distally collapsed terminal ileum. On mobilisation, a large amount of pus drained from the tubo-ovarian mass into the terminal ileum i.e. an internal tubo-ovarian small bowel fistula. Apart from an inflammatory exudate surrounding the uterus there was no perforation. The left adnexa was normal. A retroileal appendix adherent to the infundibulo-pelvic ligament appeared normal. The distended bowel was decompressed by suction via the terminal ileal perforation. The strictured segment of small bowel including the perforation was resected. A salpingo–oophorectomy and an appendicectomy were done. A manual end-to-end ileal anastomosis was fashioned and the abdominal cavity thoroughly lavaged with copious amount of saline. No drain was inserted because of the friable nature of the bowel and the localized nature of the peritonitis. Unfortunately, due to financial difficulties, microbiology of the purulent exudate was not requested and the excised specimen was not sent for histological examination. She received a therapeutic course of intravenous ceftriaxone 1 gm tds and metronidazole 500 mg tds for 7 days that covered the aerobes and anaerobes for a week. Apart for an ileus of 3 days, her recovery was uneventful. She was discharged on the 9th postoperative day on a 1 week course of doxycycline against Chlamydia trachomatis a frequent cause of pelvic inflammatory disease.


A 37-year-old woman presented with a sudden, painless loss of vision in her left eye. Her visual acuity was 20/200 in the left eye and 20/20 in the right eye. Ophthalmoscopic examination revealed an abnormal tangle of vessels and enlarged draining veins (Figure A); these signs were compatible with the diagnosis of a grade 1 retinal AV malformation. Fluorescence angiography revealed fluorescence leakage at a turn near the fovea (Figure B). Horizontally oriented optical coherence tomography revealed an increased macular thickness and an accumulation of intraretinal fluid, indicating macular oedema (Figure C). After three intravitreal injections of 1.25 mg bevacizumab, her vision improved to 20/20. Ophthalmoscopic examination revealed a decreased calibre of the previously engorged draining veins and ghost vessels (Figure D). Repeated fluorescence angiography failed to show fluorescence leakage (Figure E), and horizontally oriented optical coherence tomography revealed a decreased macular thickness and the absence of an intraretinal cyst (Figure F). At the 2-year follow-up visit, the vision of the patient was stable.


An 11-day-old neonate presented to the “Paediatric Otorhinolaryngology OPD” of our Kalawati Saran Paediatric Hospital, attached to Lady Hardinge Medical College, New Delhi, India, a tertiary care university teaching hospital with a swelling in the upper lip since birth and complaint of difficulty in suckling. In general the baby was irritable and always crying.
A large ovoid swelling was seen in the upper lip and adjoining part of upper face. The lesion involved the anterior nares causing stenosis. On the buccal surface, the skin over the swelling was normal with no sinus, punctum, or ulceration. The alveolus was free of the swelling. The swelling measured 5 × 3 cm in maximum dimensions. The swelling was tender, firm in consistency and the skin over it was indurated in patches with engorgement of veins (). A differential diagnosis of odontogenic tumour, dermoid, solitary fibromatosis, gingival granular cell tumour, rhabdomyosarcoma and neurofibroma was considered.
Patient underwent CT scan and MRI scan which revealed soft tissue intensity lesions in the lip, orbit and submandibular region (parapharyngeal space) (Figures and ). Fine needle aspiration and biopsy from the lip lesion revealed population of round cells which were arranged in clusters as well as dispersed cell population. These cells were small with scant-to-moderate amount of cytoplasm, round-to-oval nucleus, fine chromatin, and inconspicuous nucleolus. No cytoplasmic vacuoles or rosettes were seen (). Immunocytochemistry was put up for LCA, CD99, Desmin and Myogenin to confirm the diagnosis. Leucocyte common antigen (LCA) was strongly positive for Desmin and Myogenin (Figures and ). On the basis of histopathology, though initially a differential diagnosis of lymphoma and Ewing's sarcoma was also considered, immunocytochemistry clinched the diagnosis of embryonal rhabdomyosarcoma.
In view of multiple lesions, the said patient underwent chemotherapy with Vincristine, Actinomycin, Cyclophosphamide, and Dexamethasone. Subsequently, patient developed metastatic lesions in bone and lungs. Unfortunately, despite aggressive therapy, patient succumbed to his disseminated disease 3 months later.