Αρχειοθήκη ιστολογίου

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Παρασκευή 23 Μαρτίου 2018

Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease

Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome. Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. We encountered a young non-obese individual having insulin-requiring diabetes following secondary oral agent failure with primary male factor infertility secondary to asthenospermia. A suggestive family history, lack of acanthosis, negative pancreatic autoimmunity, hypomagnesaemia, bilateral renal and epididymal cysts, and absence of body and tail of pancreas pointed towards underlying MODY 5.



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Superficial temporal artery pseudoaneurysm following facial trauma

A 68-year-old man presented with rapid swelling of the right forehead 11 days after sustaining a laceration secondary to a fall. Presumed to be an abscess due to retained foreign body, needle aspiration was performed and arterial blood obtained. Doppler ultrasound revealed a 3 cm mixed echogenicity lesion with 'see-sawing' internal Doppler flow arising from the superficial temporal artery (STA), in keeping with a pseudoaneurysm. Treatment options including interventional radiology and open surgery were considered. Open operative intervention with direct surgical ligation provided an excellent outcome. Delayed pseudoaneurysm of the STA is a rare complication of trauma but should be considered in the differential of a traumatic lateral forehead swelling to prevent complications and inappropriate investigations and management.



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Worm in anterior chamber of the eye

We report a case of a 42-year-old female patient who presented to the ophthalmology outpatient department with painful red eye for 1 month. Slit-lamp microscopy showed a live worm in the anterior chamber of left eye. The worm was surgically removed under topical anaesthesia. It was sent to the microbiology department for further identification and was found to be adult female Loaloa.



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Placenta accreta complicated with peripartum cardiomyopathy

A 33-year-old G2P1 was referred to our hospital due to placenta accreta. During perioperative preparations, the patient was diagnosed with having a peripartum cardiomyopathy. The patient underwent caesarean hysterectomy at 36 weeks with an associated 2 L blood loss. Haemodynamic maintenance and stabilisation during the operation were challenging, with the combinations of fluid therapy, blood transfusions as well as vasoactive, antifibrinolytic and haemostatic drug. Postoperatively, the patient was managed in the intensive care unit and was subsequently transferred to intermediate care after less than 24 hours' observation. She was stable enough to be moved to the obstetrics ward the next day.



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Concurrent Sweets syndrome and myopericarditis following mesalamine therapy

Mesalamine, or 5-aminosalicylic acid, is a frequently used medication for the treatment of inflammatory bowel disease (IBD). We report the case of a 40-year-old woman recently diagnosed with IBD and started on mesalamine, who presented with new onset tender skin lesions 3 days following medication administration. One day following the onset of skin lesions, the patient developed acute chest pain, shortness of breath, ECG changes, troponemia, C-reactive protein elevation and pericardial enhancement on cardiac MRI consistent with myopericarditis. Subsequent skin biopsy confirmed the diagnosis of Sweet's syndrome. On cessation of the drug, both the skin lesions and the cardiac symptoms resolved in combination with anti-inflammatory therapy. While mesalamine has been previously associated with myocarditis and pericarditis, to our knowledge this is the first case of coexisting Sweet's syndrome with myopericarditis in the context of mesalamine therapy.



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Rapidly expanding venous intracerebral haemorrhage with spot sign

A 79-year-old woman was brought to the hospital with an acute-onset left haemiparesis. On initial examination, she had a pure sensorimotor syndrome with left-sided weakness and sensory disturbance. Her mental status was normal. She had normal visual fields to confrontation and no neglect. Her initial CT and CT angiogram revealed cerebral venous thrombosis with associated haemorrhage. A 'spot sign' was visible on CT angiogram. Immediately following the CT scan, the patient had a rapidly progressive decline in level of consciousness, requiring endotracheal intubation. A follow-up CT scan 70 min later showed the haemorrhage had expanded dramatically, with mass effect, midline shift and herniation. After a discussion with the family, the patient was extubated and died the following day. This is the first case of a cerebral venous thrombosis with associated spot sign-positive haemorrhage and published clinical details that the authors are aware of.



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Autoimmune pancreatitis with concomitant autoimmune haemolytic anaemia

Autoimmune pancreatitis (AIP) is an infrequent cause of acute pancreatitis, being more commonly associated with chronic pancreatitis. AIP can be associated with other autoimmune manifestations, including Sjögren's, inflammatory bowel disease, primary biliary cirrhosis, rheumatoid arthritis, hypothyroidism and sarcoidosis. Rarely, concurrent autoimmune haemolytic anaemia (AIHA) is observed, as seen in our case report of a 33-year-old postpartum woman.



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