Κυριακή 23 Σεπτεμβρίου 2018

Goblet cell carcinoid of the appendix – diagnostic challenges and treatment updates: a case report and review of the literature

Goblet cell carcinoid is a rare but distinct entity of appendiceal tumors which is a hybrid or mixed tumor consisting of both epithelial (glandular) and neuroendocrine elements containing goblet cells. This en...

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Varicella causing remission of Cushings disease

An 18-year-old male with Cushing's disease presented with generalised skin eruptions and backache. He was diagnosed with varicella infection. During the course of the illness, he developed persistent vomiting. Hormonal evaluation suggested adrenal insufficiency. MRI of brain showed features of pituitary apoplexy. Initially, he required hydrocortisone replacement. Later on his hypothalamic–pituitary–adrenal axis recovered and he is currently asymptomatic without any treatment.



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Extreme scoliosis from CKD-MBD resulting in respiratory failure and death

Description 

A 64-year-old man presented to our hospital because of dyspnoea. Twenty years ago, he had started peritoneal dialysis (PD) for chronic kidney disease. He had been diagnosed with secondary hyperparathyroidism 7 years before his presentation to our hospital, with an intact parathyroid hormone (PTH) 1227 pg/mL (normal range 10–60 pg/mL), calcium level of 10.1 mg/dL (normal range 8.8–10.5 mg/dL), phosphorus level of 5.5 mg/dL (normal range 2.4–4.1 mg/dL) and alkaline phosphatase level of 377 IU/L (normal range 140–338 IU/L). His medications included cinacalcet. Ultrasonography showed a 5-milimetre nodule at the lower pole of the parathyroid, but  99mTc-hexakis2- methoxyisobutylisonitrile (MIBI)scintigraphy revealed no abnormal accumulation.

The patient's intact PTH increased to 2606 pg/mL 6 years prior to presentation. At that time, the patient deferred parathyroidectomy. A year later, he switched from PD to haemodialysis. Intact PTH remained elevated to more than 4000 pg/mL. His thorax became scoliotic curving to the left. He had experienced dyspnoea on...



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Barriers to healthcare for female patients in Papua New Guinea

A 25-year-old woman presented to hospital in the remote highlands of Papua New Guinea (PNG) with a 3-year history of increasing abdominal distension, amenorrhoea and syncope. Ultrasound showed a large unilocular ovarian cyst. During her work-up, she was found to be HIV positive. She was treated with antiretroviral therapy, and once her CD4 count improved, she underwent a laparotomy and removal of the ovarian cyst with immediate improvement in symptoms. PNG has high levels of HIV particularly in young women and children.1 This is partly due to a lack of screening and treatment facilities and partly due to significant gender discrimination. PNG is considered one of the most dangerous places in the world for females; women are treated as second-class citizens with few human rights or access to services such as healthcare.2 Rape, sexual assault and domestic violence are common, and their lives are dictated to them by their husbands or male relatives.2 3 The lack of healthcare resources and significant levels of gender discrimination meant that this patient had a delayed presentation resulting in potentially grave complications.



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Uncommon cause of pelvic inflammatory disease leading to toxic shock syndrome

A 44-year-old Caucasian female with a history of endometriosis is admitted to the intensive care unit due to severe left lower quadrant abdominal pain, nausea and vomiting. With patients' positive chandelier sign on pelvic examination, leucocytosis, elevated erythrocyte sedimentation rate and elevated C-reactive protein indicated that she had pelvic inflammatory disease (PID). PCR tests were negative for Neisseria gonorrhoeae and Chlamydia trachomatis; however, her blood and urine cultures grew Group A streptococci (GAS) with a negative rapid Streptococcus throat swab and no known exposure to Streptococcus. On further review, patient met criteria for GAS toxic shock syndrome based on diagnostic guidelines. The patient was promptly treated with intravenous antibiotics and supportive care, and she acutely recovered. This case demonstrates a rare cause of PID and an atypical aetiology of severe sepsis. It illuminates the importance of considering PID as a source of infection for undifferentiated bacteraemia.



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On a knife-edge: clinical uncertainty with an extensive knife blade in situ in the craniofacial region

A 25-year-old man presented to the trauma department following a penetrating stab wound to his left infraorbital margin with retained knife blade causing superoposterior displacement of the globe. Plain skull X-ray revealed an extensive retained blade with subsequent CT imaging revealing the tip of the blade had reached the right styloid process with no neurovascular compromise. Initial concern was primarily for the left eye leading to ophthalmology being the first specialty requested to review the patient. However, once the extent of the injury was established, ophthalmology requested further review from maxillofacial, ENT and neurosurgery. This resulted in an 84 hours wait between the initial injury and the removal of the knife blade. Incredibly, the patient had no initial sequelae from such an extensive injury and had an unremarkable recovery with no further complications aside from a laceration to the left inferior rectus muscle that was conservatively managed.



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Mast cell deposition and activation may be a new explanation for epiploic appendagitis

Epiploic appendagitis is as an acute painful condition of the fat on the outside of the intestine. Thus far, there have been no publications to our knowledge that appendagitis can be caused by mast cells or can be associated with chronic pain. A patient with multisystemic disorders suffered with both chronic and acute attacks of abdominal pain for a year. The worst attack led to surgical resection of an enlarged sigmoid colon epiploic appendage. Careful review of her complex medical history and mast cell stains of gastrointestinal biopsies led to the diagnosis of mast cell activation syndrome. Re-examination of the resected appendage using an immunohistochemical stain demonstrated a high mast cell density which is a new histopathological finding. Treatment of mast cell activation syndrome and other related syndromes led to marked improvement in her health, including all types of chronic abdominal pain.



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Spontaneous resolution of a 'ping-pong fracture at birth

'Ping-pong' fractures are depressed skull fractures in newborn infants that occur as inward buckling of the calvarial bones, forming a cup shape. These fractures are often associated with maintenance of bone continuity. These fractures may occur spontaneously during the intrauterine period or secondary to birth trauma. Currently, there is no standard protocol for the management of depressed skull fractures. Neurosurgical or non-surgical approaches may be administered depends on the severity of the fracture. Most untreated ping-pong fractures resolve spontaneously within 6 months. Therefore, it is recommended to reserve surgical elevation or non-surgical techniques for infants not demonstrating spontaneous resolution during this period. In addition, neurosurgical interventions are usually considered for cases with intracranial pathology or neurological deficits or for infants who do not respond to conservative treatment. Herein, we report a case of a newborn infant with a spontaneous intrauterine ping-pong fracture, which spontaneously resolved, without surgical or non-surgical intervention.



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External auditory canal lesion: colorectal metastatic adenocarcinoma

The patient presented to the ear, nose and throat clinic with failed conservative treatment of persistent right otitis externa. On examination, the roof of the right ear canal was polypoid and the tympanic membrane could not be visualised. There was a fragile mass noted in the external auditory canal (EAC) which on microsuction started to bleed. CT internal auditory meatus and MRI internal auditory meatus identified soft tissue mass in the EAC. The patient underwent urgent examination under anaesthetic of the ear and biopsies were taken. He had a background of ascending colon cancer; Duke's C1, pT4, N1 M0, R0 resection and had undergone laparoscopic right hemicolectomy with adjuvant chemotherapy, in the previous year. The biopsy results proved that the mass in the EAC was due to metastatic deposit of colorectal primary tumour. The patient also had a full body CT which revealed other new metastases. The patient is being treated with palliative chemotherapy.



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Delusional infestation in the treatment of ADHD with atomoxetine

The case describes an adult diagnosed with attention deficit hyperactivity disorder and treated with atomoxetine who quickly developed a florid case of delusional infestation. The patient described very distressing experiences that were significantly impacting her daily life. The symptoms improved with the withdrawal of atomoxetine and resolved completely with antipsychotic medications. Atomoxetine is proposed as the putative causative agent in this case.



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Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.



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Expand the differential...think beyond rheumatoid arthritis

A 31-year-old male patient with severe, migratory arthralgias presented to our academic medical centre after being erroneously diagnosed and treated for rheumatoid arthritis for over 1 year. Multiple immunomodulatory therapies for rheumatoid arthritis were attempted with no relief of symptoms. Eventually, the pain was so bothersome that the patient became bedridden for 1 month prior to presenting to our facility. Our assessment revealed that the patient met the diagnostic criteria, known as the Yamaguchi criteria, needed to diagnose adult-onset Still's disease. Yamaguchi criteria include migratory inflammatory arthritis, quotidian fevers, leucocytosis and a salmon-coloured maculopapular rash. These signs and symptoms may go unnoticed or overlooked if adult-onset Still's disease is not considered. The patient was treated with anakinra (a recombinant human IL-1 receptor antagonist) and had rapid improvement in his symptoms, with the restoration of mobility.



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Posterior urethral valve associated with a foreign body in posterior urethra: a first of its kind report

Posterior urethral valve and foreign body are among the important causes of male urethral obstruction. Although one is congenital and the other is acquired, both entities are rare in children with only a few reported cases. Because of myriad of symptoms associated with both conditions, a conclusive diagnosis requires both physical examination and radiological imaging. We report a first of its kind association of posterior urethral valve with foreign body in the posterior urethra in a 6-year-old male child which was eventually managed by endoscopic intervention.



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Management of C-shaped root canal configuration in mandibular second molar

Description 

The C-shaped root canal configuration is an anatomical variation of root fusion and a type of taurodontism commonly seen in the mandibular second molar with prevalence ranging from 2.7% to 45.5% in different populations.1 In this configuration, the root canals are connected by slit or web with varying anatomy along the root length which makes thorough debridement obstacle for the clinician.2 Cone-beam CT (CBCT) is a three-dimensional imaging technique that facilitates and improves understanding the complex morphology. This article presents a case of C-shaped root canal configuration of mandibular second molar managed by using CBCT and modification in obturation techniques.

A 40-year-old female patient reported with pain in the lower left back teeth region. Medical history of the patient was unremarkable. Intraoral examination revealed deep class I carious lesion on tooth 37 with tenderness on percussion. Thermal test was performed to check the vitality...



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Over-the-counter drug-induced lung injuries with both diffuse alveolar haemorrhage and diffuse alveolar damage

Description 

A 41-year-old Japanese man with no underlying disease was admitted to our hospital with haemoptysis and dyspnoea. Two weeks prior to admission, he had caught a cold and took an over-the-counter drug (topikku GX), subsequently general fatigue and cough were worsening progressively. Hence, he presented to another hospital, owing to acute onset of dyspnoea on effort and haemoptysis, where chest X-ray was taken and revealed bilateral abnormal shadow in the middle lung fields, after that he was referred to our hospital.

On examination, his general appearance was moderately ill; blood pressure was 126/72 mm Hg, heart rate was 90 beats/min, oxygen saturation was 90% under ambient air, respiratory rate was 20 breath/min and body temperature was 38.2°. Chest auscultation revealed bilateral inspiratory mid to late crackles. Laboratory blood test showed mild elevation of liver function tests (Aspartate aminotransferase 42 IU/L, Alanine aminotransferase 34 IU/L), Lactate dehydrogenase 379 IU/L, C-reactive protein 28.2 mg/L, the rest of...



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Skin metastasis: a rare presentation in testicular germ cell tumour

A 35-year-old man presented with a history of cough, haemoptysis, weight loss for 2 months along with ulceroproliferative lesions on the chin and the scalp. On evaluation he was found to have non-seminomatous germ cell tumour, stage 3 c, poor risk with Eastern Cooperative Oncology Group Performance Status of 4. The skin lesions were proven to be metastasis by fine-needle aspiration cytology. He showed significant improvement with a 3-day protocol of abbreviated etoposide and cisplatin chemotherapy and is planned for 4 cycles of VIP. This case describes an uncommon presentation of germ cell tumour in the form of skin metastasis with excellent response to chemotherapy.



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Chronic cutaneous lupus erythematosus and topical clindamycin

Description 

A 64-year-old Caucasian woman was seen in our office for several years for management of her chronic cutaneous lupus erythematosus (CCLE). Her condition consisted of violaceous papules and plaques with some focal atrophy distributed over the upper arms, face and scalp. Histopathology from two 4 mm punch biopsies performed on separate occasions demonstrated features on H&E stain consistent with CCLE: epidermal atrophy and interface dermatitis with superficial perivascular, deep dermal and periadnexal lymphohistiocytic infiltrates containing some plasma cells. Her rash had frustrated her for over 5 years, worsening with increased sun exposure. Her collagen vascular serologies were negative. She had been managed with potent topical corticosteroids with improvement, however, the patient preferred to reserve this for flares of her condition. Interestingly, the patient had correlated dramatic clearing of her CCLE inadvertently after 3 months of applying topical clindamycin gel 1% twice daily (figures 1 and 2),...



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Primary tonsillar tuberculosis

Upper aerodigestive tract involvement with tuberculosis is relatively rare and may be seen in up to 2% of patients with pulmonary tuberculosis. Isolated tonsil involvement with tuberculosis is not commonly seen in clinical practice. We report a case of a 22-year-old postpartum mother who presented with odynophagia, fever, loss of weight and submandibular swelling of 3 months' duration. Clinical examination revealed a submandibular node, and oropharyngeal examination revealed necrotic slough overlying an enlarged left tonsil. Fine-needle aspiration cytology of the node and histopathological examination of the left tonsillectomy specimen revealed necrotising epithelioid cell granulomas, and stain for acid-fast bacilli was positive in the latter. She was diagnosed with tonsillar tuberculosis and was started on antituberculous treatment following which she improved clinically. This case serves to demonstrate an uncommon presentation of primary tuberculosis and reminds us to consider tuberculosis also as a microbiological aetiology for tonsillitis.



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Neuropsychiatric Disorder Associated with Group G Streptococcus Infection

Immune-mediated central nervous system manifestations of group A β-hemolytic Streptococcus (GABHS) infection include Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)—which includes tic and obsessive compulsive disorders—and a variety of neurobehavioral disorders. We report a case of Streptococcus dysgalactiae subspecies equisimilis (group G Streptococcus) (GGS) infection associated with involuntary movements, complex tics, and emotional lability in an 11-year-old Japanese girl. Serum IgM and IgG antibodies to lysoganglioside were positive, and she responded rapidly to intravenous immunoglobulin treatment. Neuropsychiatric disorder associated with GGS infection was ultimately diagnosed. The present findings suggest that neuropsychiatric disorders can result from GGS infection and that the pathogenic mechanism is similar to that of GABHS infection. Future large-scale studies should examine the relation between GGS infection and onset of neuropsychiatric disorder.

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