A 63-year-old woman with relapsed AML and diabetes mellitus was admitted for induction chemotherapy with cytarabine and clofarabine as part of the management plan for allogeneic stem cell transplantation. Six days after chemotherapy, she developed loose stools and diffuse abdominal pain. She was found to have Clostridium difficile infection, and oral metronidazole treatment was started. Her abdominal pain persisted and began to localize to the right lower quadrant. She was neutropenic but remained afebrile. An abdominal and pelvic computer tomography (CT) scan showed a segmental hypoenhancing area in the mid appendix with minimal surrounding fat stranding concerning for appendicitis. There were no drainable fluid collections (fig. ). Given the patient's high risk of perioperative morbidity and mortality, she was initially treated with broad-spectrum intravenous antibiotics consisting of meropenem. The patient remained afebrile and hemodynamically normal on medical treatment. However, her right lower quadrant abdominal pain continued and she developed localized peritoneal signs. A repeat CT scan obtained 3 days later showed stable inflammation of the appendix with a new finding of an adjacent loop of small bowel with thickened wall. There remained no extraluminal air or drainable fluid collections to suggest perforation (fig. ). Since the patient was not responding to medical therapy, she was taken urgently to the operating room for an appendectomy for treatment of acute appendicitis.
The operation began with a laparoscopic approach. Upon inspection of the right lower quadrant, the appendix was found to be completely necrotic down to the base. The necrotic appendix was lying on top of an adjacent loop of terminal ileum that was also segmentally necrotic at the contacting surface (fig. ). The case was converted to open in order to perform an ileocecectomy with primary stapled anastomosis. The fascia was closed but the skin was left open to heal by secondary intention due to the infected wound classification.
The patient was admitted to the intensive care unit postoperatively and extubated on postoperative day (POD) 1. Despite empiric broad-spectrum antimicrobial therapy with meropenem, linezolid, and fluconazole, the patient spiked a fever to 38.5°C on POD2. She clinically deteriorated on POD4 and was re-intubated for tachypnea and hypoxia. A CT scan of the chest showed numerous peripheral cavitary lesions that were either septic emboli or fungal infection. A bronchoalveolar lavage was performed to aid diagnosis.
On POD5, pathological diagnosis of zygomycosis was made from the ileocecectomy specimen. Hematoxylin and eosin (H&E)-stained sections showed ischemic changes, hemorrhage, and thrombosed vessels filled with broad irregular aseptate hyphae (fig. ). Inflammatory cells were rare as expected in a neutropenic patient. Gomori methenamine silver (GMS)-stained sections also demonstrated characteristic wide ribbon-like aseptate hyphae that branch at wide angles, typical of Zygomycetes, involving both vessels and adjacent submucosa (fig. ) as well as invading through the muscularis propria of the appendix (fig. ). Antifungal therapy was immediately switched to amphotericin B.
On POD6, fungal overgrowth was found in the surgical wound. Culture of the bronchoalveolar lavage recovered Absidia spp., confirming disseminated angioinvasive zygomycosis. The patient's clinical condition continued to worsen with severe hypotension that required increasing doses of vasopressors. Given the patient's dismal prognosis of surviving such an overwhelming systemic fungal infection, goals of care were transitioned to comfort and she expired on POD8.


The patient was a 56-year-old man who was admitted to another hospital complaining of abdominal distension. A percutaneous needle biopsy was performed. The patient was diagnosed with an extragonadal germ cell tumor and referred to our hospital to receive chemotherapy. The patient had considerably high human chorionic gonadotropin (4,100 ng/ml) and α-fetoprotein (149.7 ng/ml) levels. A computed tomography (CT) scan performed upon admission showed that the irregular marginal tumor of about 4 cm in width contained necrotic tissue in the central space (fig. ) as well as a solitary liver metastasis and multiple lung metastases. The next day, the patient's abdominal distension gradually worsened. The patient's systolic blood pressure was low (approximately 60 mm Hg), and his general condition deteriorated. The patient underwent CT examinations that showed hemoperitoneum from a metastatic extragonadal germ cell tumor (fig. ) and multiple lung metastases (fig. ). An emergency operation was performed. Venous hemorrhage from the surface of the metastatic extragonadal germ cell tumor was recognized between the ligament of Treitz and the inferior mesenteric vein in a horizontal position. A total of 2,200 ml of blood caused a hemorrhagic shock. The metastatic extragonadal germ cell tumor was very soft and fragile. Therefore, hemostatic treatment was performed with 4-0 proline thread attached to a medicated cotton sponge rather than using a simple proline thread (fig. ). Afterwards, the closure area was manually compressed for approximately 15 min. Complete hemostasis was eventually confirmed. The operative time was 99 min; 2,000 ml of blood and 1,200 ml of fresh-frozen plasma were transfused. After the surgery, upon reevaluation using CT, the lung metastases had become worse on postoperative day 9. The patient's general condition was nearly stable 10 days postoperatively, and etoposide (70 mg/m2) plus cisplatin (20 mg/m2) combination therapy was initiated. However, on postoperative day 25, a massive gastrointestinal hemorrhage occurred, and an emergency endoscopic examination was performed. The apparent source of the hemorrhage was not detected because of massive coagulation in the gastrointestinal tract. The patient's general condition deteriorated drastically, and he subsequently died 1 month postoperatively. An autopsy was not performed.


A 32-year-old male patient was referred to the radiology department for CT examination of the face with symptoms of swelling in the left side of nose for 7-8 months. There was an insidious increase in the size of the swelling over months. No pain, fever, or other constitutional symptoms were elicited. On clinical examination, the swelling was soft to firm, relatively mobile, and was seen in the groove between the cheek and the left nasal ala.
Non-contrast CT examination of the face revealed two well-defined hyperdense lesions on either side of the nasal ala at the nasolabial fold, obliterating the fold []. The lesions measured 15 × 11 mm and 37 × 30 mm on the right and left sides, respectively, with an average attenuation value ranging from 33 to 52 HU. No calcification or fat density was seen. There was smooth scalloping of the anterior maxillary bone on either side of the anterior nasal spine []. USG showed the lesions to be entirely cystic with dependent and mobile debris within []. No intramural nodule was seen. No significant vascularity was noted.
On MRI, both the lesions showed similar signal characteristics, appearing hyperintense on T1-weighted sequences with hyperintense dependent areas []. On T2-weighted images, the lesions returned hyperintense signal with the dependent areas appearing hypointense [Figure and ].
A final diagnosis of bilateral nasolabial cysts with debris representing proteinaceous secretions or hemorrhage within was considered.
Due to cosmetic reasons, sublabial surgical approach was used and complete enucleation of bilateral nasolabial cysts was performed carefully removing the entire wall [Figure –].
The cut open cysts showed turbid contents appearing brownish in color with dark brown sediments within. Histopathology showed the cyst wall to be multi-layered and composed of pseudo-stratified columnar epithelium with goblet cells [Figure and ].


A 65-year-old female patient was admitted due to abdominal pain with a gastric mass. The patient had been admitted to another hospital 14 months before visiting our hospital. The patient's initial chief complaints were night sweat and anemia. At the initially visited hospital, the patient underwent EGD, which found SMT (fig. ). They performed endoscopic ultrasonography (EUS)-guided biopsy, and pathologic examination results showed diffuse large B-cell lymphoma with prominent plasma cell differentiation. According to the pathologic diagnosis of diffuse large B-cell lymphoma, they performed staging abdominopelvic CT and diagnosed SMT at the upper body of the stomach with lymphadenopathy at the celiac and paraaortic area. The patient underwent six cycles of chemotherapy with CHOP. At the initially visited hospital, follow-up EGD (fig. ) and abdominopelvic CT was done with a more aggravated gastric mass. The patient visited the hemato-oncology department of our hospital after the aggravation of her disease. Another four cycles of chemotherapy with etoposide, methylprednisolone, cisplatin, and sitarabine were administered, according to the initial diagnosis of malignant B-cell lymphoma. After additional chemotherapy, follow-up abdominopelvic CT (fig. ) and EGD (fig. ) revealed an increased gastric mass at the fundus with reactive pleural effusion of the left chest. Consequently, the disease was reevaluated with EGD biopsy at our hospital, and pathological confirmation of GIST was made with positive CD34 and c-kit on immunohistochemical staining. After the diagnosis of malignant GIST, administration of IM (Gleevec, Novartis Pharma) 400 mg p.o. q.d. was started. Five months after the administration of IM, abdominopelvic CT and EGD (fig. ) revealed partial response of GIST, and the patient was referred to the general surgical department for surgery. Upon exploration of the abdomen, a huge mass with satellite lesion was noted at the posterior aspect and fundus of the stomach. We performed proximal gastrectomy with esophagogastrostomy without lymph node dissection. The pathologic report was as follows: GIST; size of tumor: 12.0 × 10.5 × 5.5 cm; mitotic count: 78/50 high power fields (HPF) (fig.). Immunohistochemical staining showed positivity for CD34 and c-kit on 400 HPF with negative surgical margins from proximal (1.0 cm) and distal (2.0 cm). The TNM stage according to the AJCC 7th edition was T4. After the operation, the patient was discharged without any complications, and administration of IM 400 mg p.o. q.d. continued at the outpatient department. Follow-up abdominopelvic CT (fig. ) and EGD (fig. ), taken 1 year after operation, showed no evidence of recurrence.


A 13-year-old boy was admitted because of right upper abdominal pain accompanied by vomiting and diarrhea that developed 3 days before admission. No history of a specific disease, abdominal trauma, or surgery was revealed. Family history was unremarkable. His height was 156.5 cm (50-75 p), weight was 60.3 kg (90-97 p), and BMI was 24.8 kg/m2. Vital signs were normal except for low-grade fever (37.6℃), and tenderness over the right upper abdomen was noted without a palpable mass on a physical examination.
A blood test revealed the following: white blood cells (WBCs), 15,100/µL (neutrophils, 72.9%; lymphocytes, 18.2%); platelets, 454,000/µL; erythrocyte sedimentation rate, 29 mm/h; and C-reactive protein (CRP), 5.45 mg/dL. Liver function tests, amylase, lipase, ammonia, prothrombin time, partial thromboplastin time, antinuclear antibody, and antineutrophil cytoplasmic antibody were all negative. A chest radiograph showed no abnormalities. An abdominal computed tomography (CT) scan revealed increased attenuation and enhancement of the omental fat between the gall bladder and epigastric midline, as well as anterior peritoneal wall thickening and enhancement, suggesting omental fat inflammation or infarction (). Laparoscopic biopsy was performed on hospital day (HD) 5, and the pathology showed mesenteric panniculitis with chronic inflammation, adiponecrosis, and moderate septal fibrosis (). Nested polymerase chain reaction for Mycobacterium tuberculosis and special immunohistochemical staining for β-catenin, calretinin, Ki-67, and P53 for malignancy were all negative.
Prednisolone was started (30 mg/d) on HD 6, and the abdominal pain subsided within 4 days. The blood tests showed improvement: WBCs, 7,320/µL (neutrophils, 55.6%; lymphocytes, 31.7%) and CRP, 1.65 mg/dL. He was discharged on prednisolone (30 mg/d) on HD 12, and the prednisolone was tapered to 10 mg/d over 1 month and continued at that dose for 7 months. An abdominal CT scan performed 8 months after discharge showed improvement from the previous abnormal findings without any significant sequelae (). Follow-up blood testing was normal. The patient remained in good health after the 2 year clinical follow-up.


A 36-year-old female smoker presented to the emergency department with epigastric abdominal pain, radiating to her back, of 1 week duration. Her past medical history was significant for type 2 diabetes for which she was on oral hypoglycemic agents and insulin; presumed secondary HTG for which she was on atorvastatin and gemfibrozil; furthermore, she used medroxyprogesterone acetate for contraception. She had stopped all these medications except the contraceptive 12 months prior to her presentation. The patient has no history of alcohol abuse, thyroid dysfunction, or family history of HTG. On admission, all vital signs were within normal limits. Physical examination was normal except for epigastric tenderness and a BMI of 31.4 kg/m2.
The initial relevant laboratory testing revealed sodium of 129 meq/l, potassium 3.7 meq/l, chloride 97 meq/l, BUN 10 mg/dl, creatinine 0.77 mg/dl (at baseline), bicarbonate 13.7 meq/l, anion gap 18 meq/l, glucose of 324 mg/dl, amylase 31 IU/l, lipase 206 IU/l, and TG 2,329 mg/dl with a previous baseline of around 2,000 mg/dl, serum calcium 9.0 mg/dl, TSH 1.182 µIU/ml, serum lactate 1.8 meq/l, negative urine ketones with serum beta-hydroxybutyrate 0.16 mmol/l, and negative urine pregnancy test. The abdominal computerized tomography scan showed no definite evidence of pancreatitis or any other pathology.
Despite unremarkable imaging, normal amylase, mild elevation of lipase, and a TG level that was mildly elevated from previous baseline, she was treated for possible HTGP with IV insulin based on the overall clinical picture. The differential diagnosis includes diabetic ketoacidosis (DKA); however, the patient lacked serum or urinary ketones. Regardless, IV insulin would treat both conditions of HTGP and DKA. The clinical impression of HTGP was further supported when her lipase increased to 370 IU/L and the TG levels on the initial sample was re-assayed resulting in a corrected reading of >10,000 mg/dl. The TG levels decreased to 6,069 mg/dl with IV insulin on day 5. However, given the worsening abdominal pain, plan for plasmapheresis to rapidly reduce the TG levels was taken. The TG levels decreased to 2,055 mg/dl after the first exchange and to 642 mg/dl after the second session, and her symptoms improved significantly.


A 63-year-old female patient weighing 80 kg with a height of 155 cm underwent wedge resection via thoracotomy for a lung malignancy. We offered the SAP block to the patient and explained the procedure in detail. She agreed to undergo the procedure, and following the patient's provision of informed consent, we described the VAS to the patient (VAS; 0: no pain, 10: maximal pain). Standard monitoring was performed, an IV vascular access was introduced, and an infusion of NaCl 0.9% was started. After induction of anesthesia, the patient was intubated and mechanical ventilation was initiated. Subsequent to the termination of the operation, skin closure, and appropriate field cleansing, linear ultrasound (USG) scanning was performed by orienting the probe in the sagittal plane while the patient was positioned in the lateral decubitus position. The fifth rib in the mid-axillary line was detected and the probe directed in a horizontal manner. The serratus anterior, latissimus dorsi, and the intercostal muscles were identified in the fourth and fifth intercostal levels with a linear probe (10-12 Hz). A 20 G 100 mm US-visible peripheral nerve block needle was placed under the serratus anterior and intercostal muscles. Bupivacaine 20 ml in a concentration of 0.25% was administered under the serratus muscle after a test dose of 1 ml using an in-plane technique (). A dilution (0.25%) of local anesthetic (LA) was titrated with special monitoring to prevent paralysis of the respiratory muscles and to avoid additional motor blocks. A catheter was placed subsequently ().
The patient was extubated and transferred to the intensive care unit. During the control posterioanterior (PA) chest x-ray performed in the first hour postoperative, 10 ml of contrast material (iohexol) was injected through the catheter concomitantly. Contrast material was seen to spread on the costae at the lateral thorax starting at the fourth intercostal level and extending to the ninth intercostal level, lateral to the right lung (). The patient was administered 20 ml bupivacaine in a concentration of 0.25% through the catheter for analgesia at the seventh hour postoperative, at which time the patient's VAS score was 4/10. An NSAID was administered through the IV route since the VAS score increased again to 4/10 during the follow-up. Subsequent VAS scores were around 2/10, and the patient was transferred to the ward at the 18th hour postoperative.


A 68-year-old female, housewife by occupation, presented with chief complaints of pain in the metacarpophalangeal joints (MCP) and wrist on the left side and swelling of the hand for last five weeks. It was acute in onset, and pain was moderate-to-severe in intensity, to an extent that she was unable to make a fist. There was no radiation of pain. It was associated with morning stiffness lasting for about half an hour. She denied any history of previous joint pain, fever, trauma, rash, burning micturition, urethral discharge, or diarrhea. She consulted a private practitioner outside and was referred to the Surgery Outpatient Department (OPD), where she was diagnosed with cellulitis and given oral linezolid and clindamycin. She did not improve and her joint pain worsened for which a medical opinion was sought. On examination, there was marked pitting edema of the left hand extending up to the wrist joint. It was not warm but extremely tender. There was limitation of movements of the wrist and MCP joints, but there was no neurological deficit. Her vitals were within normal limits and in the rest of her systemic examination (including locomotor), no abnormality was detected. Laboratory investigations revealed hemoglobin = 9.4, total count = 6500, erythrocyte sedimentation rate (ESR) = 44 mm, and C-reactive protein (CRP) = 23.8. Both RA and anti-cyclic citrullinated peptides (CCP) were negative. X-ray of the hands was normal, without any evidence of erosions or fracture. The Color Doppler sonography of the left hand revealed extensor tenosynovitis of the hands. A diagnosis of unilateral RS3PE was made. The patient was given oral prednisolone (15 mg/day) along with NSAIDs. The patient responded, as pain started subsiding within a week, and all the symptoms were relieved within five weeks. Later during the follow up, she was screened for any hidden occult malignancy with a regular physical examination, peripheral blood smear examination, chest radiography, abdominal ultrasonography, and Papanicolaou test (PAP smear). She is in regular follow up since the last 18 months and is without any residual disability or deformity.


A 60-year-old male presented with pain in multiple joints (b/l MCP, proximal interphalangeal joints (PIP), wrist, elbow, ankle) along with swelling of the hand up to wrist, since the last two months []. History of morning stiffness was present, lasting for one hour. Examination revealed asymmetrical pitting edema (left > right) on the back of the hands and pedal edema. His hemoglobin = 10, ESR = 37 (>10) in the first hour, CRP = 6.1(>5), RA factor was negative, and x-rays of the hands were normal, without any evidence of erosions. Ultrasonography of the upper limbs revealed extensor tenosynovitis. With the diagnosis of RS3PE, the patient was given prednisolone (15 mg) and the symptoms resolved within three weeks []. Remission has been maintained since the last 14 months, without any relapse.


A 90-year-old female presented with an abrupt onset of polyarthralgia (b/l wrist, MCP, PIP) along with diffuse swelling of the hands since the last 45 days. History of morning stiffness was present for about an hour. Examination revealed pitting edema restricted to the dorsum of the hands and extreme tenderness. The rest of the systemic examination was within normal limits. Her hemoglobin = 12.8, ESR = 22 mm (>20), and CRP = 6.3 (>5). Both the rheumatoid factor and antinuclear antibodies (ANA) were negative. The x-ray of hands did not have any evidence of erosions and the color Doppler revealed tenosynovitis of both extensor and flexor tendons of the hands. The patient was referred to us and we diagnose it as RS3PE. The patient was given prednisolone (15 mg) for six weeks and improved completely, without any residual disability. She was in follow up for eight weeks and was lost to follow up after that.


A 77-year-old male attended the Medicine Clinic with chief complaints of pain in multiple joints (b/l MCP, PIP, wrist, elbows) along with swelling on the back of his hand since the last one month. Morning stiffness was denied. Examination revealed diffuse edema at the back of the hands. ESR = 18 mm, CRP = 11 (> 5), and the RA factor was negative. On the x-ray of the hand no abnormality was detected and a diagnosis of RS3PE was arrived at. The patient was given prednisolone (15 mg) and he improved within four weeks, without any residual disease. At 24 months follow up, his remission is maintained.


A 56-year-old female attended the Medicine OPD with complaints of pain in b/l MCP, PIP, wrist, knee, and ankle, along with diffuse swelling, for the last three weeks. History of morning stiffness was present, lasting for one hour. On examination, there was pitting edema present on both hands and feet. Her hemoglobin = 9-2, ESR = 54, CRP = 46, RA factor and anti-CCP were negative. X-ray of the hands were normal and USG revealed both extensor and flexor tenosynovitis of the hands. With a diagnosis of RS3PE, she was given prednisolone 20 mg and she improved within four weeks without any residual deformity or relapses and was subsequently lost to follow up.


A 48-year-old female presented with an acute onset of polyarthralgia (b/l PIP, MCP, wrist, elbows) for the last one along, with swelling over both hands. There was associated history of morning stiffness. On examination, pitting edema was present over the dorsum of both hands. Her hemoglobin = 8.8, ESR = 114, CRP = 208, and RA factor was negative. Ultrasonography (USG) of the hands showed extensor tenosynovitis. Thus, it was diagnosed as RS3PE. She was given prednisolone = 20 mg/day. All symptoms were resolved in six weeks. The patient has maintained remission since the last 12 months.


A 60-year-old male presented with pain in multiple peripheral joints (b/l PIP, MCP, wrist, elbow) along with swelling on the back of his hands, for the last one month. There was a history of associated morning stiffness. On examination, there was diffuse pitting edema on the dorsum of the hands. Investigations revealed hemoglobin = 11.8, ESR = 86mm, and CRP = 48. Both RA and anti-CCP were negative. The x-ray was normal and color Doppler ultrasonography revealed flexor tenosynovitis of the upper limbs. RS3PE was the diagnosis and he was given prednisolone = 15 mg. The patient improved within six weeks and remission has been maintained since the last three months.
Clinical and laboratory characteristics of all cases are summarized in .


A 71-year-old woman was admitted to our department for massive visible hematuria lasting for 2 h; she had urgency, frequency, suprapubic pain, and dysuria. She had cystitis 2 times during the last 3 months. We started coagulation therapy (Dicynon, Kanavit, Exacyl) without effect. Three days after the admission, her hemoglobin falls to 86 g/l. Cystoscopy showed a solid tumor on the posterior wall of the bladder sized 3 cm, it looked like infiltrating tumor growing from the adjacent organs. After performing transurethral resection (TUR) of the tumor, histological report indicated that the tumor contained malignant spindle cells, partially necrotic with myxoid changes, and urinary bladder urothelium was found without dysplastic changes, it was difficult to differentiate whether it is sarcoma or sarcomatoid carcinoma. Immunohistochemistry examination was ordered, which showed later that the tumor is inflammatory myofibroblastic. Two weeks later, intravenous urography showed irregular contour on the cranial part of the urinary bladder wall. On computer tomography, there was a finger-like mass on the left lateral wall of the urinary bladder, and the fundus invading the surroundings. Two months later, we performed follow-up cystoscopy; we found a tumor on the left lateral wall of the bladder, and TUR was performed. After 3 months, no pathological findings were seen.


An 84-year-old woman was admitted to the Emergency Department. She had sustained severe back injury after falling from the bed 4 hours before admission. She had immediate enduring back pain, but there was no limitation in the straight leg raising test. Tenderness was noted in the overall back area, and she had marked limitation of postural change due to severe pain. The pain was relieved when she rested in bed. No sensory or motor deficits of the lower extremities were observed.
With suspicion of osteoporotic VCF, magnetic resonance imaging (MRI) and bone mineral densitometry were performed. MRI of the thoracolumbar spine revealed fresh VCFs at T9, L2, and L3. However, there was no cortical defect or displacement of the rear wall (). Dual-energy X-ray absorptiometry revealed severe osteoporosis of the spine (mean T-score, -5.8). Because of the intractable back pain and her old age, PV was performed on the day of admission. The procedure was performed under biplane fluoroscopy with use of local anesthesia on an outpatient basis.
Under biplane fluoroscopic guidance, we performed vertebroplasty at the level of L2 and L3, and there was no cement leakage. During injection of PMMA in the T9 vertebral body, however, cement leakage into the disc space and adjacent nonfractured upper vertebral body occurred (). Injection was halted as soon as leakage was noted. Approximately 4.5mL of PMMA was injected. Although the cement had leaked into the disc space and upper vertebral body, the patient's mechanical back pain had remarkably improved. She was discharged with few complaints on the seventh postoperative day wearing a thoracolumbosacral orthosis. During the follow-up of more than 12 months, the patient was almost pain free with only mild back discomfort, and without new fracture of the adjacent vertebral body.


A 40-year-old woman visited the department of psychiatry at our hospital on March 17, 2014 with depressive mood, general weakness, and loss of appetite. Her mother had been diagnosed with liver cirrhosis. She had received treatment for depression at a local clinic for 3 years. Her symptoms worsened over the past year as she refused to talk or eat.
At admission, vital signs were stable and laboratory tests revealed the following results: hemoglobin 9.9 g/dL, hematocrit 30.5%, white blood cells 2,180/mm3, platelets 115,000/µL, total protein 5.4 g/dL, albumin 3.1 g/dL, BUN/creatinine 10.5/0.6 mg/dL, total bilirubin 1.1 mg/dL, direct bilirubin 0.47 mg/dL, AST/ALT 91/29 IU/L, prothrombin time 13.3 seconds (INR 1.22). An abdominal ultrasound was performed for further evaluation of low hemoglobin, thrombocytopenia and abnormal liver function test results, which showed liver cirrhosis and splenomegaly. As the patient had no history of alcohol consumption or recent use of hepatotoxic drugs, additional blood and urine tests were done to distinguish the cause of liver cirrhosis. The hepatitis B surface antigen, antibody, hepatitis C antibody, HIV and VDRL were all negative. Serum antinuclear antibody, Anti-smooth muscle antibody, LKM-1 antibody and anti-mitochondrial antibody were all negative and IgG was 824 mg/dL being in the normal range. Serum copper was decreased to 28.88 µg/dL (normal range: 90-130 µg/dL) and serum ceruloplasmin to less than 8 mg/dL (normal range: 20-40 mg/dL). The 24-hour urinary copper excretion was increased to 78.21 µg/day (normal range: < 40 µg/day). Slit-lamp examination revealed a Kayser-Flesicher ring, a band of golden pigment around the cornea which led to the final diagnosis of Wilson's disease ().
Basal hormone levels were checked in order to exclude other causes of depression, appetite loss, and general weakness. LH, FSH, estradiol, testosterone, IGF-1, and prolactin were all within normal range while thyroid function test results showed TSH 0.28 μIU/mL, fT4 0.72 ng/dL, and T3 50.85 ng/dL, all being below the lower limit. ACTH and cortisol were checked at 8 AM and 4 PM, being decreased to 1.00/1.72 μg/dL and 1.00/2.84 μg/dL, respectively. The thyrotropin releasing hormone (TRH) stimulation test and insulin tolerance test were performed to evaluate the pituitary-adrenal axis function. TSH levels showed only a marginal increase from 0.227 μIU/mL to 2.816 μIU/mL which was an insignificant response to TRH (), indicating central hypothyroidism and not non-thyroidal illness syndrome. ACTH remained as 1.00 pg/mL after provoking hypoglycemia with insulin injection while cortisol merely rose from 1.77 µg/mL to 1.66, and GH from 1.39 mg/dL to 9.78 mg/dL (). This was determined as insufficient response to insulin-induced hypoglycemia. Results were consistent with secondary hypothyroidism and adrenal insufficiency due to hypopituitarism.
After being admitted, the patient showed trouble swallowing food and other neurological symptoms that could not be explained by depression such as rigidity, tremor and bradykinesia. Brain MRI was done as an additional test for these symptoms as well as to determine the presence of any pituitary tumors. T2-weighted images showed high signal intensity in both basal ganglia and in the midbrain, whereas no abnormality was found in the pituitary ().
Oral D-penicillamine (1.0 g/day) was given for copper chelation with pyridoxine (50 mg/day), while thyroid hormone and steroid replacement with levothyroxine (50 μg/day) and prednisolone (7.5 mg/day) were additionally used. Significant improvements were seen in liver function. Increase in 24-hour urinary copper excretion was monitored which reached 922.8 μg/day after initiating treatment and was maintained in the range of 200–500 μg/day after 6 months. Anti-Parkinson agents were used for tremor and gait disturbance. The patient's general weakness, appetite loss and depressive mood improved as well. She is currently receiving treatment with the same regimen and has had no side effects from medication or other newly developed symptoms for the last 7 months.


A three-year-old girl who was previously fit and well was brought to Chris Hani Baragwanath Academic Hospital with a history of difficulty in swallowing. There was a history of ingesting a button battery the day before. The child was not in respiratory distress, and there was no drooling of saliva. An X-ray revealed a button battery lodged in the upper oesophagus with characteristic peripheral lucency []. There was no evidence of pneumo-mediastinum. The child was taken to theatre where a rigid oesophagoscopy was performed and the battery removed. No obvious fistula was documented at the time. However, on the first post-operative day, the child presented with a significant cough and evidence of aspiration after taking liquids by mouth. A water-soluble contrast swallow demonstrated a large tracheo-oesophageal fistula at the level of C7-T1 [], and the patient was admitted to the paediatric intensive care unit where she was intubated and a nasogastric tube passed. Operative repair of the fistula was planned for the following day.
The initial approach was via an incision along the anterior border of the right sternocleidomastoid through which the site of the fistula was identified, approximately at the level of the sternal notch. To improve access, particularly with respect to adequate mobilization of the distal trachea and oesophagus, the incision was extended to a complete median sternotomy. The trachea and oesophagus were controlled above and below the level of the fistula, which was approximately 1.5 centimetres in length. The trachea and oesophagus were mobilized, taking care to identify and preserve the recurrent laryngeal nerves. Resection of the necrotic circumference of both the trachea and oesophagus was done. This amounted to three tracheal rings in the trachea, which left a 3-4 cm gap between the proximal and distal tracheal ends with the endotracheal tube traversing the defect []. The child tolerated this well with no deterioration in oxygenation or ventilation. An end-to-end anastomosis of both trachea and oesophagus was done using 4-0 polydioxanone, which was achieved without tension due to the prior mobilization []. The right sternohyoid muscle was detached superiorly and swung down and placed between the two repairs to minimize the risk of re-fistulization. A nasogastric tube was passed across the oesophageal anastomosis, and a penrose drain was placed next to both repairs and exited via the right neck incision. The child was left intubated and transferred back to ICU. On the 7th post-operative day, a flexible bronchoscopy was performed to confirm the integrity of the tracheal repair prior to extubation. No saliva had drained from the penrose drain, and the child was started on nasogastric and subsequently oral feeds. On the 10th post-operative day, she developed a fever that was investigated with a CT scan with oral contrast. No leak or recurrent tracheo-oesophageal fistula was demonstrated, but a small collection was noted in the region of the anastomosis. On the 12th post-operative day, saliva and milk were noted in the penrose drain. Due to the complexity of a full re-exploration to attempt to repair the leak, it was deemed prudent to divert the child with a cervical oesophagostomy and insert a feeding gastrostomy. Three months later, when her general condition had improved, she was taken back to theatre and oesophageal continuity was re-established.


A 65-year-old Caucasian woman, with a family history of BC, referred to our institution in May 2015 after casual checking of a lump in the left breast. Written informed consent of the patient and approval of Comitato Etico Interaziendale of the Province of Messina were obtained for the present case. The mammography scan revealed a radiopaque solid infiltrative lesion in the upper-inner quadrant of 35 mm diameter, with irregular margins and multiple microcalcification clusters. Two additional deep located lesions of ~17 and 12 mm were also found in the upper-inner quadrant and mid-upper quadrant, respectively (). Ultrasound imaging confirmed the presence of a 30 mm hypoechoic lesion with irregular margins and microcalcifications in the context, with additional two lesions (15 and 10 mm) peripherally and evidence of multiple pathological axillary lymph nodes with a maximum diameter of 22 mm.
Ultrasound-guided breast biopsy revealed an invasive carcinoma of no special type with the following biological characteristics: estrogen receptor negative, progesterone receptor negative, Mib-1>50%, and HER2 immunohistochemistry 3+. A computed tomography scan and a bone scintigraphy excluded the presence of distant metastases: stage IIIB (cT4N2M0). Serum tumor markers were within normal range of local laboratory: carcinoembryonic antigen (CEA) 5.1 ng/mL (0–4 ng/mL), cancer antigen 125 (CA 125) 8 U/mL (1.5–35 U/mL), cancer antigen 15-3 (CA 15-3) 29 U/mL (0–38 U/mL).
According to the disease stage, biomolecular characteristics of the tumor, and comorbidities (insulin-dependent diabetes mellitus type 2), the patient started neoadjuvant treatment with weekly trastuzumab (4 mg/kg loading dose followed by 2 mg/kg maintenance dose) and weekly nab-paclitaxel 125 mg/m2 for 12 weeks, with no relevant hematological and non-hematological toxicities. In September 2015, after the completion of neoadjuvant treatment, the radiological workup with mammography () and breast ultrasound documented a complete response with persistence of only microcalcifications and small reactive axillary lymph nodes. Serum tumor markers were within normal range of local laboratory: CEA 3.8 ng/mL, CA 125 7 U/L, CA 15–3 27 U/L.
Then in October 2015, she underwent conservative surgery plus homolateral axillary lymphadenectomy. The pathology review showed normal mammary gland tissues, without evidence of BC cells, and absence of metastases in lymph nodes, consistent with response to treatment and indicating pCR. After breast-conserving surgery, the patient underwent radiotherapy in the left residual breast and then was started on therapy with only adjuvant trastuzumab. The last serum tumor markers were within normal range of local laboratory: CEA 4.3 ng/mL, CA 125 7 U/L, CA 15–3 25 U/L.


A 60-year-old woman presented with generalized weakness, anorexia, weight loss, and fasting epigastric pain over a 5-month period. The patient had suffered from allergic urticaria for several years, but this had been treated and subsequently controlled with standard medication. She denied any previous alcohol or herbal medication intake and had no significant family history. Esophagogastroduodenoscopy revealed an 8.5 × 7.0-cm-sized ulcerofungating mass in the anterior wall of the lower body. Biopsy of the mass was diagnosed as moderately differentiated adenocarcinoma. Preliminary laboratory test results were within normal limits, whereas a tumor marker level test revealed elevated carbohydrate antigen 19-9 (98.8 U/mL). Computed tomography demonstrated a large hypodense ulcerofungating mass in the gastric anterior wall along with multiple perigastric lymphadenopathies (). The patient underwent D2 subtotal gastrectomy and early postoperative intraperitoneal chemotherapy. Gross examination of the resected stomach showed a smooth serosal surface and a large ulcerofungating mass measuring 8.5 × 7.0 cm, consistent with Borrmann type 2, in the lower anterior wall (). On sectioning, the tumor had a heterogeneous appearance with a mixture of white and yellow lesions with infiltrative boundaries, invading to the serosal layer (). Microscopically, the tumor comprised 55% large cell NEC, 35% moderately differentiated adenocarcinoma, and 10% well differentiated SqCC. The adenocarcinoma component was in the upper portion of the tumor, whereas the NEC component presented in the deep portion, with a small proportion in the upper portion, up to the mucosal layer (). In particular, the collision between the adenocarcinoma and NEC components was found in the ulcerated tumor area (). Additionally, transition from NEC to SqCC was found in some areas (). As expected, immunohistochemical staining for synaptophysin and chromogranin A were positive in the NEC component but negative in the adenocarcinoma and SqCC components (, ). The SqCC component but not the NEC or adenocarcinoma component revealed strong nuclear expression for p63 (). The tumor mitotic count was 95 mitoses per 10 high-power fields, and the Ki-67 labeling index was 96%. The tumor penetrated the serosa, and 14 of the 48 regional lymph nodes showed metastasis, which, interestingly, was composed of only the adenocarcinoma component (), but distant metastasis was not detected. Interestingly, for c-erbB2, the NEC component revealed negativity, whereas the adenocarcinoma component showed complete membranous staining of strong intensity in primary gastric cancer and in its corresponding metastatic regional lymph nodes (). During seven cycles of adjuvant chemotherapy, the patient experienced sudden abdominal pain due to mechanical obstruction by an adhesion at the operation site. Since then, she has stopped receiving chemotherapy and is currently receiving supportive care. The patient has been monitored for 18 months post-surgery and remains alive without evidence of disease recurrence.
The study was performed in accordance with the guidelines of the Institutional Review Board of Kyungpook National University Medical Center and was exempt from written informed consent. The information of this case was retrospectively obtained from medical records in the database of Kyungpook National University Medical Center.


A 6-year-old boy presented with progressively increasing swelling over the body for 3 months, decreased urine output for 2 months; fever, cough, and respiratory distress for 6 days. There was no history of hematuria, dysuria, palpitations, chest pain, or jaundice. He had taken some treatment irregularly for these complaints, details of which were not known. On examination, he had severe respiratory distress due to pulmonary edema. His pulse rates were 155/min with all peripheral pulses well palpable; respiratory rates were 62/min with intercostal and subcostal recessions. He was anemic, hypertensive (blood pressure – 140/86, >99th centile) and had generalized anasarca and abdominal wall cellulitis. There was no jaundice, rash, arthritis, lymphadenopathy, or organomegaly. Systemic examination revealed bilateral basal crepts; there was tachycardia, but no murmur.
Investigations revealed anemia (hemoglobin [Hb] 6.3, microcytic hypochromic type), neutrophilic leukocytosis (total leukocyte count 14,800 with neutrophilia 87%) and renal dysfunction (blood urea 283 mg/dl, serum creatinine 3.9 mg/dl). The serum albumin levels were 1.6 gm/dl, cholesterol levels were 185 mg/dl and triglycerides of 472 mg/dl. The liver function tests were normal with a serum bilirubin of 0.3 mg/dl, alanine aminotransferase 14 IU/L and aspartate aminotransferase of 28 IU/L. The serum sodium levels were 143 mEq/L and potassium 5.9 mEq/L, total calcium 7.9 mg/dl, phosphates 3.6 mg/dl and SAP 181 IU/L. The venous blood gas showed mild acidosis (bicarbonate levels 16.7 mEq/L). The urine examination showed nephrotic range proteinuria with microscopic hematuria and 8–10 WBC/hpf. Radiology revealed pulmonary edema on chest radiograph and minimal pericardial effusion on echocardiography. A diagnosis of rapidly progressive glomerulonephritis with abdominal wall cellulitis was made, and the child started on intravenous antibiotics, furosemide and antihypertensives.
In view of worsening renal functions and hyperkalemia, hemodialysis was initiated. The child received two blood transfusions. Further investigations revealed that antinuclear antibody and anti-streptolysin-O-antibody were negative, complement levels (C3) were low and the serology was positive for hepatitis B (hepatitis B surface antigen, hepatitis B e antigen [HBeAg] and anti-hepatitis B core antibody [IgG anti HBc] positive; and anti-HBeAg negative; DNA titers for viral load could not be done due to nonavailability). The anti-hepatitis C virus and anti-human immunodeficiency virus (HIV) antibodies were negative. The renal biopsy showed features of collapsing glomerulopathy []. The light microscopy showed 18 glomeruli of which 10 showed glomerular capillary tuft collapse, three were segmentally sclerosed and five appeared unremarkable. The interstitium showed edema and a diffuse 30–40% of the tubulointerstitial compartment showed chronic parenchymal changes with blood vessels having mild medial sclerosis. Immunofluorescence showed nonspecific deposition of C3, IgM (2+), IgG, IgA. Hepatitis B antigen deposits were present in the glomerular tufts. Based on these findings and the serology report, a diagnosis of hepatitis B associated collapsing glomerulopathy was made. The child was started on lamivudine; was continued on diuretics and antihypertensives. After 2 weeks of antibiotic therapy the child improved and became dialysis independent. After 1 month of hospital stay the child was discharged on iron, calcium supplements, lamivudine and antihypertensives (amlodepine and furosemide). His blood urea and creatinine levels were 114 mg/dl and 1.9 mg/dl, respectively at discharge. At 6 months follow-up, the child was normotensive, with minimal edema and his kidney function test were urea of 86 mg/dl and creatinine 1.1 mg/dl. The serum albumin was still low (1.6 g/dl) and Hb had improved to 10 g/dl. Subsequently, the child has been lost to follow-up.


A 43-year-old female with a 2-year history of PV was referred to our hospital because of persistent erythema restricted to her left cheek. Widespread blisters and erosions were seen on her face, lips, buccal and nasal mucosa, trunk, and limbs and a diagnosis of PV was made. Her serum antibodies against DsG 1 and 3 were 57 and 810 units/ml, respectively. A skin biopsy from her buccal mucosa and right axilla revealed a suprabasal cleft with acantholytic keratinocytes. Direct immunofluorescence (DIF) study of the same region revealed intercellular deposits of immunoglobulin G (IgG) and C3 in the epidermis. A diagnosis of PV was made and oral prednisolone (PSL, 50 mg/day) was started. The eruptions improved quickly and her autoantibodies became negative. The PSL dose was gradually tapered. However, at a PSL dose of 22.5 mg/day, she suffered recurrent flare-ups of erythema on her left cheek for over a year [Figure and ]. Skin culture was negative for any microbe. Anti-DsG 1 and 3 antibodies were negative for approximately 2 years, and indirect immunofluorescence (IIF) test was also negative 1 year after the relapse. Rebiopsy of the cheek showed suprabasal acantholysis and deposits of C3 and IgG by DIF [Figure and ], whereas DIF from her unaffected skin was negative. We added topical tacrolimus (0.1%) ointment without changing the PSL dose because the PV lesion was localized. The eroded patch on her left cheek improved by day 7 and was almost completely epithelialized after 2 weeks []. Treatment with tacrolimus ointment was continued and PSL was reduced to 15 mg and she suffered no relapse for 6 months.


A 67-year-old female diagnosed with PV 5 years earlier had been successfully treated with oral PSL started at 60 mg daily. When the dose was tapered to 6 mg/day, erosions lasting for over a year appeared on her lower lip []. Although the biopsy specimen showed suprabasal acantholysis [] and intercellular deposits of C3 and IgG by DIF, anti-DsG 1 and 3 antibodies were negative 1 year after the flare-up. The lesion responded to topical corticosteroid without changing the PSL dose.


A 7-year-old male presented to the emergency room complaining of redness, pain tearing, and reduced vision in both eyes after artificial snow clumps hit his face and some entered his left eye 3 h before the presentation. The child was playing with this substance with his friends at home. The patient was otherwise healthy with no significant medical or ophthalmic history.
The eyes were irrigated with balanced salt solution (BSS) for 30 min. Ophthalmic examination in the emergency room indicated that a best-corrected visual acuity was 20/30 in both eyes. Slit lamp examination showed bilateral conjunctival injection, corneal superficial punctate keratitis, right eye, and corneal epithelial defect in the left eye measuring 3 mm × 4 mm with pale redundant sick epithelial flaps with tiny white dots sticking to the undersurface of these epithelial flaps, with mild edema surrounding the defect and hazy stromal base [Figure and ]. The anterior chamber was quiet in the right eye and had occasional cells in the left eye; the rest of the anterior segment examination was unremarkable in the left eye. The posterior segments were within normal limits, bilaterally.
We elected to perform epithelial debridement in the left eye. Topical benoxinate was instilled into the conjunctival sac and the pathologic epithelium, and sticky white matter was scraped with a sterile Weck-cel sponge. The left eye was patched after application of erythromycin eye ointment and cyclopentolate 1% drops; the right eye was prescribed lubricating eye drops.
At follow-up on the next, the eye patch was removed and the left eye was cleansed with BSS and cotton balls. The patient complained of continuing severe eye pain in the left eye. The left eye was injected. On examination, the corneal epithelial defect had increased to 5–6 mm. The epithelium was pale and redundant, and stromal haze remained even after debridement []. There were no frank stromal infiltrates, and occasional cells were present in the anterior chamber of the left eye. The patient underwent epithelial scraping with a sterile Weck-cel sponge. A bandage contact lens was placed on the left eye, and the patient was prescribed moxifloxacin hydrochloride ophthalmic solution 0.5% drops, 4 times a day.
One day and 3 days after treatment, the defect remained in the left eye. The patient underwent debridement of the edges at two additional consecutive visits. At 1-week follow-up, the epithelium healed well, the surrounding edema resolved, the stroma was clear, and the vision was 20/25 in both eyes.
A sample of the white colored substance was examined. The substance was composed of loose granules that converted to a snow-like matter after adding some water [Figure and ]. This substance was sent to the research department for further evaluation.
Electron microscopy [] and energy dispersive X-ray spectrometry [] indicated the polymeric nature of the granules, and the substance was composed mainly of minerals including oxygen, carbon, sodium, magnesium, calcium, and sulfur, and traces of aluminum, silicon, and iron.


A male aged 35-year-old was admitted to a local hospital with alleged history of road traffic accidents. The chief complaints were chest pain and difficulty in breathing. It was initially diagnosed as left hemothorax with bilateral multiple rib fractures and left clavicle fracture. A left intercostal drainage tube (ICD) with trocar was inserted and a gush of blood was seen streaming through the tube. This was assumed to be from the hemothorax and when the bottle filled up, ICD was clamped. Next day, the tube was unclamped with no drainage due to clotted blood. The patient continued to have breathlessness and so he was referred to our hospital for further management.
On admission, his vitals were stable and ICD tube was found to be nonfunctional. A chest X-ray done on admission showed moderate pleural effusion. The ICD was in the direction of the heart and not the apex of chest []. In two-dimensional-echocardiography, no tamponade was seen. On the 2nd day, the ICD was adjusted, but there was no drainage and hence the ICD was removed. On removal, a gush of blood spurted out through the ICD insertion site, the wound was pressed tightly, and elastoplast was applied. His condition deteriorated and had an episode of hypotension. The patient was resuscitated with crystalloids and shifted to Intensive Care Unit. One fresh frozen plasma and two packed red blood cells were also administered since his hemoglobin level prior to the bleed was 9.8 g/dl. He stabilized thereafter.
Emergency contrast-enhanced computerized tomography scan was done. The scan showed an active extravasation of contrast from the left ventricular wall to subcutaneous plane of the left lateral chest wall along the previous ICD tube tract which therefore suggested ventriculo-subcutaneous fistula due to the ICD tube [Figures and ].
A surgical intervention was required as an emergency. Intraoperatively, a 2 cm opening in the left pericardium and a similar opening in the lateral side (4 cm from the atrioventricular groove) of the left ventricle were seen. The pericardium had 250 ml of straw-colored fluid and the left pleural cavity had 500 ml of dark blood. Surprisingly, there was no blood in the pericardial cavity as the pericardium was stuck to the left ventricle at that area. The left lung was collapsed. The perforation was sutured with 40 pledgeted prolene sutures. Postoperative period was uneventful. He was on a small dose of inotrope and fiber-optic bronchoscopy was done twice to clear the secretions. He was discharged on postoperative day 12 with a settled chest X-ray [].


A 42-year-old female who complained of right abdominal pain was admitted to No 307 Hospital, Affiliated Hospital of the Academy of Military Medical Sciences, Beijing, People’s Republic of China in April 2004. Abdominal computed tomography (CT) scan revealed a huge mass in the right kidney (size: 10.8 cm ×7.6 cm). The patient then underwent a radical surgical resection of the right kidney under general anesthesia on May 1, 2004. The postoperative pathology examination confirmed that the mass was renal leiomyosarcoma. The patient received interferon treatment for 3 months after surgery, and she was in a stable, tumor-free state during the follow-up period. In April 2009, the patient felt pain and discomfort on both sides of the chest for no obvious reasons. The chest CT scan on April 15, 2009 showed multiple pulmonary nodular lesions, and the patient was finally diagnosed with multiple lung metastases from renal leiomyosarcoma (). In the subsequent two years, the patient received intensive chemotherapy, including paclitaxel, carboplatin, docetaxel, ifosfamide, epirubicin, and others.
The patient began taking oral sunitinib malate at the dose of 37.5 mg/d after October 28, 2011. A chest CT scan 4 weeks later indicated a stable disease (SD) status with some lung lesions presenting vacuoles, according to the Response Evaluation Criteria in Solid Tumors (RECIST) (). No hematologic changes were found in the patient during the treatment with sunitinib. Toxic adverse effects of sunitinib malate, based on the Common Terminology Criteria for Adverse Events v3.0, were observed in this patient, including fatigue (grade 2), hand-foot syndrome (grade 3) (), and stomatitis (grade 2). For this reason, the dose of sunitinib malate was reduced to 25 mg/d, and the adverse reaction of hand-foot syndrome was alleviated. Unfortunately, this treatment led to a repeated, unstable hand-foot syndrome, which the patient could not tolerate at times. Therefore, the patient had to take oral sunitinib malate intermittently, and the longest withdrawal interval was 1.5 months (from July to August 2012). A chest CT scan on August 21, 2012 revealed progressive disease due to the withdrawal of sunitinib malate (). However, the patient was restored to a SD status just 1 month after she resumed sunitinib treatment (), indicating that sunitinib malate was still effective for the control of multiple lung metastases. The patient then continued oral sunitinib malate treatment at a dose of 25 mg/d on a 3-week on/1-week off regimen. The main adverse effects were hand-foot syndrome (grades 1–2), hypothyroidism (grade 1), and fatigue (grade 1). As of March 15, 2014, the patient has continually taken oral sunitinib malate for 26 months, and chest CT scans have indicated no progression of disease (). Written informed consent was obtained from the patient for this study.


A previously healthy 15-year-old boy presented to our hospital on February 21, 2011 with persistent fever for 5 days, abdominal pain, diarrhea, headache, dual flank pain, dysuria, and oliguria. The patient noted that a high fever (39.0-41.5℃) and severe headache began approximately 17 days after his return from Africa (South Africa, Kenya, and Nigeria on January 3-25, 2011). He had experienced diarrhea in Africa and also upon his return. He did not take antimalarial prophylaxis in Africa. He reported no consumption of special food and no history of medication.
Vital signs were as follows: temperature of 38.7℃, heart rate of 96 beats/min, blood pressure of 100/60 mmHg, and respiration rate of 30 breaths/min. The patient appeared acutely ill with anemic conjunctiva and icteric sclera. His abdomen was soft and distended with palpable hepatosplenomegaly and dual flank tenderness. The neurological examination was normal except for the reported headache. Laboratory results were as follows: complete blood count revealed a white blood cell (WBC) count of 2.50 × 103/μL with segmented neutrophils (63%), hemoglobin of 11.2 g/dL, and a platelet count of 2.7 × 104/μL. Urinalysis showed microscopic hematuria (blood 3+), pyuria (WBC > 30/high power field), and protein (+) in the urine. Hepatorenal impairment was present with an aspartate aminotransferase level of 152 IU/L, alanine aminotransferase level of 53 IU/L, total bilirubin (T-bili) of 9.23 mg/dL, direct bilirubin (D-bili) of 5.22 mg/dL, blood urea nitrogen (BUN) of 40 mg/dL, and creatinine of 2.96 mg/dL. Additional laboratory tests revealed a decreased complement C3 of 45.7 mg/dL (normal range: 90-180 mg/dL) and C4 of 8.7 mg/dL (normal range: 10-40 mg/dL). A peripheral blood smear examination was negative for Plasmodium parasites. Tests for hepatitis markers (types A, B, and C) were negative.
Although we suspected malarial infection, tests were negative for malaria. We considered a diagnosis of hemolytic uremic syndrome (HUS) due to thrombocytopenia, hematuria, diarrhea, and kidney failure. We admitted the patient to the intensive care unit, but after 3 days his fever persisted and his headache had worsened. Oliguria and symptoms of acute kidney injury (pulmonary edema and serum potassium elevation) were increased. Laboratory examination revealed increased hyperbilirubinemia (T-bili of 15.49 mg/dL and D-bili of 9.54 mg/dL), BUN of 77 mg/dL, creatinine of 6.17 mg/dL, and a decreased GFR of 20 mL/min/1.73 m2. Blood and urine cultures, a Shiga-toxin/enterohemorrhagic Escherichia coli test, and Widal and Coombs tests were negative. We could not exclude thrombotic thrombocytopenic purpura. The indicated treatment was simultaneous hemodialysis and plasmapheresis. One daily cycle of plasmapheresis was the main therapy and intermittent hemodialysis was an adjuvant therapy after an initial 4 consecutive days of hemodialysis. Once hemodialysis was started, kidney function slowly improved. On day 17, after 10 hemodialysis sessions, the GFR returned to the level noted on admission day. Peripheral blood smears performed on the day of admission () and after 10 days () were reported to be negative for malaria. However, the blood smear was found to be positive on 10 days by retrospective review, resulting in late diagnosis by wrong interpretation of the blood smear. On day 19 (), a peripheral blood smear yielded a diagnosis of malaria. Polymerase chain reaction (PCR) confirmed P. falciparum infection. Treatment with the antimalarial drug mefloquine was initiated. The patient’s fever subsided and the GFR increased faster without plasmapheresis and hemodialysis (). The GFR normalized within 4 days of initiating the antimalarial drug. He was discharged on day 31, and the laboratory results were in normal range as follows: T-bilirubin of 0.39, D-bilirubin of 0.19, BUN of 15 mg/dL, and creatinine of 0.81 mg/dL. A complete blood count on day 31 revealed a hemoglobin of 13.1 g/dL and a platelet count of 1.77 × 105/μL. Vital signs were stable and the patient did not report any symptoms. He was discharged with no medication and followed for 3 years in our outpatient clinic with no subsequent health problems.


A 35-year-old Hispanic female with no past medical history and no home medication, presented to the emergency room complaining of severe bilateral lower extremity pain and tightness. Three days prior to her emergency department (ED) visit, she fell from a cycling machine at the gym due to handle malfunction, twisted her ankle, and landed on her knees. However, she sustained no external injury and continued to ride the stationary bike lightly for another 45 min. After returning home, patient was able to ambulate and conduct her daily activities despite mild pain and soreness in her knees. After 2 days, on the night prior to coming to the ED, patient began to experience severe pain in both legs, which kept her up all night. She took over-the-counter ibuprofen which provided minimal relief. Next morning, she drove herself to the emergency room. In the ED, she reported an 8/10 burning pain and tightness in her lower extremities, especially in her anterior thighs and in her left posterior thigh. She also complained of tingling sensation in her calves bilaterally.
Patient denied having sustained any open or external injury, but complained of moderate lower legs swelling with severe pain with ambulation or weight-bearing. She had decreased sensation in her lower extremities and tingling sensation in the left leg. Patient also reported lower back pain since the incident, but denied direct injury or trauma to the area. She also denied having any neck pain, headache, fever, chills, shortness of breath, nausea, or vomiting.
Past surgical history: C-section; allergy: no known drug allergy; social Hx: occasional alcohol use, non-smoker, no recreational drug use; family Hx: non-contributory.
Vitals: BP, 125/81; HR, 86/min; RR, 19/min; temperature, 97.7 °F. General: moderate distress from pain, alert, A&O × 3, cooperative. HEENT: pupils equal round reactive to light with accommodation, extraocular muscles intact bilaterally. Cardiac: S1S2, regular rate and rhythm, no murmur. Lung: clear to auscultation bilaterally, no wheezes/rales/rhonchi. Abdomen: LLQ tender, normal bowel sound, no rebound/guarding. Back: non-tender, non-traumatic. Skin: intact with no discoloration, rash, or erythema in the lower extremities and lower back. Extremity: bilateral feet - no swelling, non-tender, pedal pulse strong and equal bilaterally; lower legs - mild swelling, paresthesia in calves, non-erythematous; bilateral knees - tender, swelling, limited range of motion due to pain, stable joint, intact skin, no erythema; thighs and hips - bilateral tenderness with limited hip ROM due to pain, patient was unable to lift leg due to pain, non-erythematous, no swelling. Normal gait but ambulation was limited by pain.
Pertinent labs on admission are shown in .
X-ray, CT, MRI, and Doppler ultrasound showed no fracture or dislocation in her extremities, no deep vein thrombosis (DVT) and/or spine/disc abnormality.
CT of lumbar spine: no significant finding; MRI of lumbosacral spine: no significant finding; lower extremity venous Doppler: no evidence of DVT in bilateral lower extremities; ultrasound of abdomen: echogenic hepatic parenchyma, commonly due to diffuse fatty infiltration of liver; X-ray bilateral femurs and knees: no acute fracture or dislocation.
Patient was admitted to inpatient medicine service for rhabdomyolysis management. In her initial evaluation in the emergency room, her laboratory tests were significant for anemia with hemoglobin of 11.8 g/dL (), CK level of 6,812 U/L and elevated AST and ALT (), and a concurrent urinary tract infection (UTI) (). She was given several liters of normal saline IV fluid boluses, and continued to receive IV fluid on the inpatient medicine floor. Surgery and neurosurgery services ruled out compartment syndrome and cord compression. Her CK level trended up to a maximum of 72,358 U/L on day 3 of admission. Her pain was controlled by opioids. Renal function remained normal during her hospitalization, although lactate level increased to 2.3 mmol/L for 1 day and returned to normal range. As for her UTI, she was treated with nitrofurantoin. The patient’s transaminitis rose to AST 1,225 U/L and ALT 460 U/L; GI consult service attributed these elevations to rhabdomyolysis. On day 6 of admission, she was free of pain. By day 7, her serum CK decreased to 3,695 U/L and was subsequently discharged home. Patient failed to follow-up at the outpatient clinic and no further information is available after hospital discharge.


We report a case of a 36-year-old man, white, who was a cleaning assistant, born in Aracajú (SE) and lived in São Paulo (SP) for 15 years. He complained of mass appearance on his right shoulder, at least 2 years ago, with slow-growing, painless and without sings of inflammation or secretion exit. The patient denied previous trauma where the mass was located, appearance of other masses, comorbidities, personal or family previous history of diseases, alcohol abuse, smoking and use of illegal drugs.
At physical examination, he had nodular injury in suprascapular region, well-delimited, pink measuring 1.5cm in diameter, fibrotic consistency and non-painful on palpation ().
The patient underwent skin fuse exeresis containing an injury under local anesthesia with lidocaine, followed by primary simple suture using black Nylon 4.0mm and bandage with sterile gauze and microporous tape. Histopathological study of injury was done. The patient was advised to clean the surgical wound daily using aqueous chlorhexidine and change bandage every day. After 14 days, stitches were removed and the scar evolved satisfactory after the surgery ().
Histopathological exam of injury revealed a well-defined nodule formation characterized by hypocellular collagen proliferation with irregularly arranged collagen fibrous. Presence of cells with poor-defined cytoplasm and both oval and elongated nuclei. Nodule was surrounded by preserved dermis and epidermis without significant histological changes. The injury was totally removed and no histological signs of malignancy were found. Microscopy findings indicated the diagnosis of storiform collagenoma.


A male patient aged 17 years was admitted to the child and adolescent psychiatry clinic with the complaints of attention difficulties on schoolwork and forgetfullness. Patient’s medical history revealed that he had a car accident 3 months ago which included a TBI. Upon admission to emergency room, his Glasgow Coma Scale score was 6/15. At the time of the accident, his neurologic assessment was marked with upper and lower muscular weakness, memory deficits and frank mutism. This clinic picture resolved in 2 months; however, he has been speaking slowly since then. Before the accident, he was reported to have a succesfull academic life in both elementary and secondary school. He never had attention problems, hyperactivity or impulsivity. Prior psychiatric history of the patient did not reveal any psychiatric disorder diagnosis. There was no known history of psychiatric disorders in both parents and extended family members. After the accident, he had difficulty on sustaining attention on school work and forgetfulness on daily duties. He described himself as “I study hard and try to do my best but I am far from my previous academic performance. I can’t focus, can’t sustain my attention and I do simple mistakes”. Deficits in cerebellar tests, slow speech and difficulty at walking on hills were evident in his neuorologic examination. His magnetic resonance imaging (MRI), which was performed 10 days after the injury, revealed postinjury findings on the right frontal lob, lef temporal lobe and corpus callosum (). Sleep and awake electroencephalography (EEG) of the patient was also obtained on the 7th day after injury. Sleep EEG showed 4–6 Hz theta waves mixed with V waves and sleep spindles. Awake EEG showed 8–9 Hz alpha waves in posterior regions. There were no cerebral assymetry, focal slowing or epileptiform discharges.
A diagnosis of major neurocognitive disorder due to TBI was made and osmotic release oral system (OROS) MPH was administered with the dose of 18 mg/day for attention problems. After one week, patient was admitted to the clinic with the complaints of talking to himself, delusional thoughts, irritability and sleeplessness. He was reported to speak everyone that he and his father were prophets. He was reported to be more talkative than usual especially in social situations. His psychiatric interview revealed elevated mood, incongruent affect and delusional thoughts about his mission to save the world. The patient’s Young Mania Rating Scale (YMRS) score was 29. His general pediatric and neurologic evaluation did not reveal any additional findings. The Naranjo adverse drug reaction probability scale score was 8. With the suspect of a medication induced adverse reaction, MPH was discontinued and all of the symptoms resolved in 3 days. Three days after the discontinuation of MPH, YMRS score decreased to 4.


A 42-year-old female with no vascular risk factors presented with sudden onset of Wernicke's aphasia and right facial paresis. Her neuroimaging showed multiple acute and subacute infarcts involving cortical and subcortical regions of both the hemispheres [].
Cardiac evaluation, systemic vasculitis workup, and cerebrospinal fluid analysis did not reveal any abnormality. Digital subtraction angiography showed mild luminal irregularities in bilateral internal carotid artery (ICA) origins and bilateral cavernous ICA. In view of cortical and subcortical infarcts in a patient with no risk factors, the possibility of PACNS was considered and she underwent meningocortical biopsy that was suggestive of small vessel vasculitis. Accordingly she was initiated on steroids and monthly cyclophosphamide. At 6 months follow-up, she had partial improvement in comprehension of speech with no fresh neurological events.
Nine months later, she presented with acute onset severe headache followed by alteration of sensorium. Computed tomography (CT) brain showed intraventricular hemorrhage. Conventional angiography showed multiple aneurysms in the left posterior inferior cerebellar artery (PICA) with luminal irregularities in multiple intracranial arteries [involving bilateral PCA, left middle cerebral artery (MCA) M2, and bilateral cavernous ICA], features consistent with a diagnosis of vasculitis []. She underwent clipping and wrapping of the PICA aneurysms. She was discharged on steroids and azathioprine.


A 66-year-old male patient—an ex-smoker—who was previously diagnosed with hypertension, dyslipidemia, non-dialytic chronic renal failure, and benign prostate hyperplasia was admitted to the emergency facility with the diagnosis of a juxtarenal abdominal aortic aneurysm rupture. He was submitted to a thoraco-phreno-laparotomy followed by aneurysmectomy and aorto-aortic Dacron prosthesis insertion. Within the first 24 hours of the postoperative period, mesenteric ischemia and abdominal compartment syndrome ensued, which required an extensive enterectomy involving the small bowel until 1.7 m of the Treitz angle, accompanied by proximal enterostomy, distal stump burial, and Bogotá bag peritoneostomy. The abdominal cavity was closed after two revisions. On the twentieth postoperative day, after the last surgical procedure, right lower limb ischemia, caused by decompensated chronic arterial occlusion, required transtibial amputation. The patient was discharged after 55 days of hospitalization. Nearly 1 year after these procedures, he was hospitalized for reconstruction of the intestinal transit and incisional hernioplasty with preperitoneal Marlex® mesh.
A pseudoaneurysm of the distal aorto-aortic anastomosis was diagnosed by a Doppler ultrasound performed during the 1-year follow-up, which was confirmed by a non-contrasted abdominal computed tomography (CT). The latter detected an infrarenal fusiform aneurysm emerging 8 cm below the renal arteries and extending until the emergence of the iliac arteries (7.3 cm in length and 6.1 cm in diameter). An eccentric thrombus and parietal calcifications were present, and a saccular component (3.7 cm in length and 3.7 cm in diameter) extended until the right common iliac artery, as shown in ().
In light of the imaging findings and clinical data, some therapeutic options were considered, namely: (i) inner tubing or sandwich; (ii) multilayer flow modulator; (iii) aortomonoiliac endografting plus femorofemoral crossover bypass graft; and (iv) open surgery. However, taking into account the multiple previous surgical interventions, the vascular surgeons chose the inner tubing technique, which was performed as follows: (i) a bilateral inguinotomy with isolation of the common, the internal, and the external femoral arteries; (ii) systemic heparinization; (iii) an arteriography identifying the distal prosthesis, and the common internal and external iliac arteries; (iii) the insertion of bilateral rigid guidewire; (iv) a Viabahn® endoprostesis kissing placement (13 × 100 left; 10 × 150 right); (v) a control arteriography (a small endoleak on the left side was detected but blood flow was satisfactorily obtained on both sides); (vi) arterial suture with 5-0 prolene; and (vii) suture of the inguinotomies. The procedure was uneventful, without the need for hemoderivatives transfusion. The patient was fed orally on the first postoperative day and was discharged on the second day. Perfusion was promptly fully re-established, which was assured on the ambulatory follow-up by clinical examination. A control CT was done 1 month after the procedure ().


A 15-year-old male child diagnosed as a case of Hurler's syndrome with bilateral corneal haze was scheduled for keratoplasty of the right eye. He exhibited characteristic features of a severe form of MPS type I including short stature, facial dysmorphism, protruded abdomen and multiple joint deformity of limbs and complaint of obstructive sleep apnoea for which he was using nasal bilevel positive airway pressure (BiPAP) device for the last 5 years. There was no history of any other significant illness or anaesthetic exposure.
On examination, the child was found to be of normal intelligence, cooperative and with stable vital parameters. His airway examination revealed reduced mouth opening of 2.5 cm, large tongue, receding chin, thyromental distance of 4.5 cm, modified Mallampati class 4 and adequate range of neck movements [Figures and ]. On systemic examination, significant findings were systolic murmur in aortic area on auscultation and hepatosplenomegaly on abdominal palpation. Routine laboratory haematological examinations were unremarkable. Chest X-ray showed cardiomegaly and on echocardiogram, thick calcified aortic valve with mild mitral regurgitation was found. The X-ray of cervical spines ruled out atlantoaxial instability.
During pre-anaesthetic visit, the patient was explained about the necessity to perform awake supraglottic device insertion or awake fibreoptic bronchoscopy (FOB) guided intubation to which he agreed. He was also asked to bring nasal BiPAP machine to the hospital on the day of surgery.
In the morning of surgery after appropriate duration of fasting, the patient was administered 0.1 mg of intramuscular glycopyrrolate injection 45 min before surgery, and topical preparation of airway was accomplished using lignocaine preparations. In operation theatre, standard anaesthetic monitors were attached, and baseline vitals were noted. Appropriate difficult airway cart was kept prepared. Intravenous (IV) midazolam 0.5 mg, ranitidine 25 mg and metoclopramide 5 mg were administered as pre-medication.
The patient was asked to insert the PLMA number 2½ on his own in the manner of swallowing a lollipop. The patient complied and thereafter the cuff of the PLMA was inflated with 10 ml air and connected to Bains circuit. Appropriate placement of PLMA was confirmed by bag movement with respiration, capnogram and easy passage of the gastric tube through drain channel. For analgesia, fentanyl 25 μg IV was administered, and anaesthesia was induced with thiopentone sodium 75 mg given slow IV. After confirming the ease of ventilation with a gentle, positive pressure by bag, injection vecuronium bromide 2 mg was given. Anaesthesia was maintained with sevoflurane (<2%) in oxygen-nitrous mixture (33:66). Surgery was completed uneventfully in 2 h. Anaesthetic gases were discontinued before reversal of neuromuscular blockade with injection glycopyrrolate 0.2 mg and neostigmine 1.25 mg. After 10 min, the patient was fully awake and obeying commands. PLMA was then taken out by the patient himself, and he was then shifted to PACU with stable vitals.


We present a 64-yr-old male patient with arterial hypertension and four previously recurrent VTE episodes with onset at the age of 48. The patient has no children, and no familial history of VTE, thrombocytopenia, or bleeding was found. Repeated thrombophilia investigations were negative, and there were no clinical indications of an underlying malignancy. Although the patient was treated with anticoagulants, he developed recurrent VTEs; therefore, the level of international normalized ratio was kept between 3.0 and 3.5. The patient also had a history of chronic thrombocytopenia with an element of pseudothrombocytopenia, as the platelet count was consistently higher when measured in citrated whole blood with added paraformaldehyde (PFA). Consequently, all platelet counts were measured in triplicats (EDTA, citrate, and citrate with PFA) and agglutination occurred in EDTA and citrate tubes. Therefore, in the following paragraphs, all mentioned platelet counts are counted in citrate tubes with added PFA. The patient developed a subdural hematoma during an episode with a very low platelet count of 30 × 109/L and therefore warfarin treatment was discontinued. Successive treatments with prednisone, dexamethasone, intravenous immunoglobulins, romiplostim, and rituximab were initiated on suspicion of immune thrombocytopenic purpura; however, a substantial increase in the platelet count was not achieved. Consecutive bone marrow examinations performed in 2002, 2009, and 2015 showed no dysplastic features. During a period with headache and severe thrombocytopenia (9 × 109/L), a cerebral computed tomography (CT) scan revealed progression of the persistent subdural hematoma and a new subdural hematoma in the opposite hemisphere (A). The patient did not present any neurological deficits at the time and the Glasgow coma score was 15. Treatment with platelet transfusions and tranexamic acid was initiated. During the next 24 h, he developed epistaxis, increasing headache, dyspnea, and swelling of the left crus. A CT scan showed progression of the right subdural hematoma with centerline displacement (B). At the same time, a thoracic CT scan verified multiple pulmonary emboli (C). Furthermore, another deep venous thrombosis was diagnosed in the left femoral vein by ultrasound. To guide the hemostatic and anticoagulant treatment in this complex situation, thromboelastography (TEG) was used. D-dimer was increased (23 mg fibrinogen-equivalent units (FEU)/L, reference: <0.5 mg FEU/L), whereas activated partial thromboplastin time and international normalized ratio were in the normal range. Treatment with fibrinogen concentrate (RiaSTAP) and platelet concentrates was initiated, leading to a rise in platelet counts, improvement in the strength of the clot evaluated by TEG, and allowing the initiation of low-molecular-weight heparin treatment in prophylactic doses. A peripheral blood smear was performed because of transfusion-requiring anemia, demonstrating 4% schistocytes (A). The morphology of the platelets was variable, showing both microthrombocytes and giant platelets but no platelet aggregates. Plasma concentration of ADAMTS13 was normal. Repeated plasmapheresis prompted normalization of platelet count, peripheral blood smear, and all TEG parameters. As hemoglobin was normalized and the frequency of plasmapheresis was reduced, the platelet count decreased again and the patient developed renewed symptoms of pulmonary emboli despite therapeutic anticoagulation treatment. A pulmonary CT scan showed a saddle embolus of the pulmonary arteries, and there were clinical signs of progression of deep venous thrombosis in the left leg. Platelet counts fell to 50 × 109/L and schistocytes were again present in the peripheral blood smear. Additional antithrombotic treatment with aspirin was initiated combined with daily plasmapheresis. A repeated cerebral CT scan demonstrated progression of the subdural hematoma. At this stage, WES was performed to test for inherited dysfibrinogenemia, thrombocytopathia, and thrombotic microangiopathy (TAM). Congenital dysfibrinogenemia was suspected because of low fibrinogen activity and prolonged thrombin time. Thrombotic microangiopathia was suspected because of schistocytes, nonimmune hemolysis, and slightly decreased kidney function (P-creatinine 132 mmol/L; ref. 60–105 mmol/L). A renal biopsy was not performed because of the patient's severe bleeding tendency.


This patient was a 29-year old male with a diagnosis of bipolar 1 disorder, most recent episode manic, severe with psychotic features. His recent manic symptoms included agitation, paranoia, irritable mood, and decreased sleep. He presented to the outpatient community mental health center in January 2014 for follow-up. While he was psychiatrically stable, he presented with severe akathisia. There was no known family history of psychiatric illness. Substance use history included current occasional alcohol use and past cannabis use. He was a nonsmoker. Past medical history was unremarkable, except for a history of vitamin D deficiency. The patient’s current medication regimen was risperidone long acting injectable 100 mg every 2 weeks. This dose was achieved cautiously over a period of many months because he had been only partially responsive to 50 mg every 2 weeks. The patient did have some mild akathisia at the 50 mg dose, but it was not bothersome at that time. He was also receiving lithium extended-release (ER) 1,200 mg at bedtime, but was chronically non-adherent to the medication and blood level determinations. Previous medication trials included olanzapine, aripiprazole, quetiapine, asenapine, haloperidol, divalproex, and bupropion, all with little efficacy or significant adverse effects.
In order to address his complaints of restlessness, propranolol immediate release was initiated at 20 mg twice daily and titrated to 40 mg twice daily. While receiving propranolol at this dose, his pulse ranged from 46–64 beats per minute, so further increases were deemed unwise despite partial resolution of akathisia. A trial of benztropine was also attempted, but did not help. As part of routine practice at the clinic, pharmacogenomic testing was available to patients based on their clinical presentation, provider preference, and patient willingness. Due to the significant history of failed medications and the severity of his previous manic symptoms, GeneSight Psychotropic pharmacogenomic testing was ordered. GeneSight Psychotropic (Assurex Health, Mason, OH, USA) uses CPGx to classify 38 commonly prescribed antidepressant and antipsychotic medications into three advisory categories based on the level of adverse gene-drug interaction. The three categories are “use as directed” (green), “use with caution” (yellow), and “use with increased caution and more frequent monitoring” (red). At the time of the testing of the patient, six genes were included yielding a report that provides combinatorial, integrated genetic information. These genes include pharmacokinetic genes (CYP2D6, CYP2C19, CYP2C9, CYP1A2) and pharmacodynamic genes (SLC6A4, HTR2A). The following alleles may be detected CYP1A2 -3860G>A, -2467T>delT, -739T>G, -729C>T, -163C>A, 125C>G, 558C>A, 2116G>A, 2473G>A, 2499A>T, 3497G>A, 3533G>A, 5090C>T, 5166G>A, 5347C>T; CYP2B6 *1, *4, *6, *9; CYP2C19 *1, *2, *3, *4, *5, *6, *7, *8, *17; CYP2C9 *1, *2, *3, *4, *5, *6; CYP2D6 *1, *2, *2A, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17, *41, gene duplication; CYP3A4 *1, *13, *15A, *2; HTR2A -1438G>A; SLC6A4 L, S.
reports the patient’s specific genotype for each of the six genes tested. Interestingly, the patient’s GeneSight Psychotropic profile (see ) showed that many of the medications that had been tried were classified in the yellow or red categories. Based on these results, risperidone long acting injectable (yellow category) was discontinued and paliperidone long acting injectable (green category) was initiated. Lithium was continued. Paliperidone was titrated to 156 mg every 3 weeks and his akathisia reduced significantly over the next few months while his symptoms remained managed.


This patient was a 59-year old woman who presented to the community mental health center in April 2014 with a complaint of severe depression. Her symptoms included depressive ruminations, passive death wish, low energy, poor sleep, and suicidal ideations. The patient had a family history significant for a completed suicide and she had a child with depression and a history of self-injurious behavior. Her past medical history was significant for a total hysterectomy with oophorectomy, obstructive sleep apnea, type 2 diabetes, urinary incontinence, hyperlipidemia, allergic rhinitis, and a cerebrovascular accident (CVA) over 10 years ago with residual left hemiparesis. Her current medications included trazodone 100 mg po (orally) qhs (every night), gabapentin 300 mg po qhs, glimepiride 2 mg po qday, ranitidine 150 mg po bid (twice daily), and atorvastatin 40 mg po qhs. Her previous psychiatric medication trials included sertraline, duloxetine, desvenlafaxine, and aripiprazole all with minimal efficacy. The patient was diagnosed with major depressive disorder and treatment with citalopram was initiated.
Initially, the patient responded to citalopram, but after 2 months, efficacy decreased and lithium was added as an augmenting agent. The addition was moderately effective, but the patient continued to have passive death wish and depressive ruminations. Citalopram was discontinued and nortriptyline was initiated at 10 mg at bedtime. This lower dose was chosen due to the patient’s history of CVA. After 1 month, lithium and nortriptyline blood concentrations were ordered and were 0.6 mEq/L and 0 ng/mL respectively. Patient endorsed current adherence with her medications evidenced by her lithium concentration, but did have a history of non-adherence. Pharmacogenomic testing was ordered to determine if the patient’s genetic profile could be contributing to the lack of efficacy of her medications. Additionally, the genetic results had the potential to explain the discrepancy between the patient’s nortriptyline serum levels and her claim that she was adherent with the medication.
reports the patient’s specific genetic genotype for each of the six genes tested. Many of the patient’s previous medications were in the yellow or red category, including the nortriptyline she was currently receiving (). Nortriptyline was initially increased to 25 mg at bedtime, but was stopped after 2 months when there was no evidence of efficacy. Further titration of nortriptyline was not performed due to her fragile medical state post-CVA and concerns about potential risk for falls. Despite probable adherence, the increased dose was not supplying adequate blood levels (nortriptyline level was still undetectable). The lithium was continued, the patient’s psychotherapy was intensified, and additional psychosocial interventions such as home visits were used. Due to pharmacogenomic testing, the patient’s medication regimen was able to be simplified and adverse outcomes such as falls were avoided.


A 63-year-old man who experienced sudden onset of excruciating right leg pain, tingling, and numbness a week prior to admission was presented to our hospital. He had a history of LDH of L4–5 and had undergone conservative treatment at another hospital 5 years prior.
Neurological examination revealed sensory disturbances involving the L5 dermatome on the right side, and muscle weakness of the right tibialis anterior, extensor hallucis longus and peroneus longus muscle along with attenuated deep tendon reflexes. Straight leg raise test was positive at 20° on the right side. Bladder and bowel functions were normal.
MRI revealed extrusion of disc material and abrupt loss of continuity of the dural sac at the L4-5 disc level as well as a small ovoid-shaped intradural lesion at the level of the right L5 pedicle (). Both T1- and T2-weighted MRI demonstrated an isointense lesion. A plain CT scan revealed the presence of gas in the L4–5 disc and in the spinal canal (). Discography and disco-CT demonstrated leakage of the contrast medium into the intradural space similar to potential findings on a myelographic study (). Based on these findings, the right L5 nerve root disturbance caused by ILDH was diagnosed and surgery was performed.
A right L5 hemi-laminectomy was performed with the patient in the prone position. No significant extradural lesion remained after the hemi-laminectomy. However, a hard mass could be palpated along the dural sac at the L4–5 disc level. The dural sac was swollen and immobile. A dorsal 30-mm durotomy was performed in the midline. After the cauda equina nerve rootlets were carefully retracted, the herniated disc fragment was observed. Based on these findings, we made a definitive diagnosis of ILDH. However, the surface of the intradural herniated disc fragment was totally smooth, and the sharp cartilaginous endplate was partially observed to be protruding from the herniated disc. The herniated disc fragment was carefully dissected and then completely removed under the surgical microscope (). The ventral dura and arachnoid membrane were adherent. After the intradural herniated disc fragment was removed, the ventral dural rent had ragged edges and was adherent to the L4–5 disc space. The ventral and dorsal dural rents were repaired with 6-0 nylon. Histological examination revealed that the lesion was disc material. The patient reported improvement in his radicular symptoms immediately after surgery, and the postoperative period was uneventful. Postoperative MRI showed complete removal of the intradural herniated disc (). The patient recovered fully after 3 months.


A 52-year-old woman was hospitalized for evaluation of a 2-day-history of chest discomfort. She had rheumatoid arthritis for 13 years and had been treated with hydroxychloroquine for >12 years (total dose, 1,898 grams). In the emergency department, she had a generalized tonic-clonic seizure caused by sinus arrest (). The initial vital signs were as follows: blood pressure, 130/80 mmHg; heart rate, 38 beats/minute; body temperature, 36.4℃; and respiratory rate, 20/minute. The physical examination revealed a mild degree of jugular venous distention, a regular, slow cardiac beat without murmurs, clear lung sounds, and no pitting edema in the extremities. The 12-lead ECG showed a junctional rhythm with sinus arrest (). The laboratory findings included a hemoglobin level of 13.1 g/dL and a normal white blood cell count with a normal differential cell count. The blood urea nitrogen was 27 mmol/L, the serum creatinine was 2.02 mg/dL and the C-reactive protein was 0.94 mg/L. The antinuclear and anti-double stranded deoxyribonucleic acid (DNA) antibodies were negative, while the rheumatoid factor was positive. The creatine kinase was 294 UI/L with a normal myocardial band fraction. The aspartate aminotransferase level was 57 U/L, the alanine aminotransferase level was 48 U/L, and the alkaline phosphatase level was 49 UI/L. Chest radiography demonstrated marked cardiomegaly without pulmonary congestion (). Transthoracic echocardiography (TTE) revealed a markedly thickened left ventricular (LV) septum and posterior wall thickness, measuring 17.7 mm and 18.8 mm, respectively, with mild LV systolic dysfunction (ejection fraction, 44%). A slightly thickened RV free wall with mild RV systolic dysfunction was also noted. Both atria were enlarged and a mild degree of mitral regurgitation was present. The mitral inflow pattern was consistent with restrictive physiology. The early mitral inflow (E) velocity was 90.28 cm/s, the late mitral inflow (A) velocity was 36.77 cm/s, and the deceleration time was 216.64 milliseconds. The E/E' was 33.4, suggesting a high left ventricular end diastolic pressure (). Magnetic resonance imaging (MRI) showed diffuse wall thickening of the LV (septal wall thickness at the end-diastolic phase, 19 mm) and the RV free wall, suggesting hypertrophic cardiomyopathy. There was a small pericardial effusion. On delayed enhancement, multifocal patchy myocardial enhancement was noted in the lateral and septal walls (). The patient underwent myocardial biopsy to determine the underlying cause of the cardiomyopathy. Light microscopy showed vacuolated myocytes (). Electron microscopy revealed abundant intra-myocyte lysosomes with numerous large, dense myelin figures occupying large portions of the myocyte sarcoplasm. Lysosomal inclusions with curvilinear substructures were also noted (). There was no evidence of amyloid deposition, myocarditis, or an acute vasculitic process. Chloroquine toxicity was diagnosed based on the pathologic findings and the hydroxychloroquine was promptly discontinued. A permanent pacemaker was inserted for management of sick sinus syndrome. Four months later, the follow-up TTE demonstrated no significant interval change in LV systolic function or the LV wall thickness compared with the previous examination. However, LV diastolic function improved from restrictive physiology to pseudonormal relaxation. The patient's rheumatoid arthritis was subsequently controlled with low-dose prednisolone and analgesics.


A 72-year-old man was transferred to our emergency department due to the left side weakness. On arrival, he also presented with dyspnea and cough productive of purulent sputum. Three months prior to the current admission, he was hospitalized in a local clinic due to right hemiparesis and was diagnosed with acute left anterior cerebral artery infarction by brain magnetic resonanace imaging (MRI). Chest computed tomography (CT) revealed the mass suspicious of lung cancer in the right lower lobe. The mass was originated from right lower lung field and invaded right pulmonary artery, vein and LA. Biopsy of the lung lesion was recommended for additional diagnostic confirmation but his family rejected the performance of further evaluation.
When he visited our hospital, he had a blood pressure of 100/60 mmHg, a pulse rate of 76/min, a temperature of 36.3℃, and a respiratory rate of 25/min. His general appearance was chronically ill-looking and he was in a drowsy status. His white blood count (12,400/µL) and high sensitive C-reactive protein (6.79 mg/dL) were elevated and chest X-ray showed multifocal pneumonic infiltration in both lung fields as well as a huge mass in the lower zone of the right lung. His brain CT showed the old cerebral infarction in the left medial-frontal area and the acute cerebral infarction in the right fronto-temporal area (). Transthoracic echocardiographic (TTE) examination was performed to investigate the cause of his recurrent cerebroembolic episodes, revealing a very huge, mobile mass in the LA which originated from the right main pulmonary venous trunk accompanied by a small amount of pericardial effusion (). The mass moved in a to-and-fro fashion through the mitral valve with neither significant obstruction of the mitral inflow nor pressure gradient between the LA and left ventricle (LV). LV ejection fraction and LA size were within normal range. In order to figure out the relation of the mass to the surrounding structures, chest CT was subsequently performed, showing multi-focal consolidation in both lung fields and a huge mass of 6.0 cm by 4.5 cm size in the right lower lobe encroaching the right main pulmonary artery, right pulmonary venous trunk and LA (). Intracardiac mass as well as lung mass were increased and multifocal metastasis and pneumonia in both lungs were aggravated compared to previous chest CT. Metastatic lymphadenopathy at both paratracheal, lobar and interlobar station and malignant pleural effusion were also noted. Due to strong rejection of further work-up and treatment by his family members, it was inevitable to select supportive treatment. A short-time later, he passed away.