Herrerahaslund7496

Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder, caused by branched-chain alpha-ketoacid dehydrogenase (BCKD) deficiency, leading to toxic accumulation of branched-chain amino acids (BCAAs) including leucine, isoleucine and valine and their corresponding a-ketoacids. The diagnosis of MSUD is based on elevated BCAAs and allo-isoleucine in plasma, and branched-chain hydroxyacids and ketoacids in urine. The identification of alloisoleucine >5 µmol/L is considered pathognomonic. Moreover, brain magnetic resonance imaging (MRI) showing atypical signal intensity and oedema is characteristic of MSUD. Recognition of the classical neuro-radiological findings of MSUD is particularly useful in local settings as many healthcare facilities lack the resources to measure Plasma Amino Acids (PAA). We report three cases of MSUD, in whom the disorder was strongly suspected at presentation, based on classical brain MRI findings, which was urgently confirmed by PAA analysis.

To explore medical students' preferences of career specialisation, and to investigate the factors that influence their choices.

The cross-sectional study was conducted at the University of Kufa, Iraq, from January 27 to February 21, 2019, and comprised medical students from the second to the sixth years. Data was collected using an anonymous, structured, self-administered questionnaire. Data was analysed using SPSS 25.

Of the 601 students approached, 566 (94%) participated; 311(55%) females and 255(45%) males. The largest group was of students in the second year 161 (28.45%), followed by third year 123 (21.73%), sixth 98(17.31%), fifth 93(16.43%) and fourth year 91(16.08%). Cardiology was the most chosen specialty 55(9.7%), followed by Paediatrics 46 (8.1%) and Dermatology 45(8%), while 40(7.1%) students had not decided yet. The reason for choice most cited were "My Passion" by 427(75.4%) students, "income" 67(11.8%), "less on-call duties" 51(9%), "mentor inspiration" 46(8.1%), "family member inspiration" 34(6%), "reputation" 22(3.8%), "less competition" 15(2.6%), and "number of residency years" 8(1.4%).

Being passionate about a speciality was the major influencing factor for students while selecting their future speciality.

Being passionate about a speciality was the major influencing factor for students while selecting their future speciality.

To determine perception of medical students about learning from integrated simulated clinical skill sessions as part of the undergraduate curriculum.

The cross-sectional study was conducted at the Centre for Innovation in Medical Education, Aga Khan University (AKU), Karachi, from July 2018 to February 2019, and comprised first year medical students undertaking the Respiration and Circulation module of the curriculum. Quantitative data was collected using a questionnaire and the responses were assessed on a five-point Likert scale. Data was analysed using SPSS 21. Qualitative data was gathered through focused group discussion with students and an in-depth interview with the facilitator conducting the sessions. The data was subjected to thematic analyses.

Of the 161 subjects, 71(44%) participated in the session I and 90(56%) in the session II. Altogether 68(96%) students in session I and 81(90%) in session II believed integrated sessions to be effective in achieving learning objectives, and 65(92%) in session I and 79(88 %) in session II found them motivating, while 61(86%) in session I and 76(84%) in session II expressed the confidence that they had accomplished learning objectives and felt they had learned practical clinical skills; session I, 59(84%), session II, 73(81%). Qualitative analysis revealed that these sessions enhanced understanding of the subject matter and student engagement.

Integrated clinical skills sessions improved students' interest, engagement and confidence. It should be implemented in undergraduate medical teaching curriculum.

Integrated clinical skills sessions improved students' interest, engagement and confidence. It should be implemented in undergraduate medical teaching curriculum.Spinal subdural haematoma (SSDH) is very rare but potentially life debilitating spinal vascular condition, often developing acutely. Usually managed conservatively but may require immediate evacuation to prevent potential harm to the spinal cord. Predisposing factors can be spontaneous or iatrogenic. MRI remains the modality of choice to diagnose and see the age and extent of haemorrhage. We hereby present the case of a young child who developed iatrogenic spinal subdural haematoma.Intracranial ependymoma are relatively common paediatric brain tumours, but their eloquent location and high recurrence rate pose a significant challenge. Gross total resection or maximum safe resection followed by adjuvant radiotherapy are currently the standard recommended treatment, although there is still nearly 50% recurrence risk at 5 years. Chemotherapy has shown some promising results after recent advances in molecular understanding of ependymomas, but needs further evaluation before it could be added to the treatment regime.The concept of endocrine first aid refers to immediate assistance provided to preserve life, prevent worsening of clinical condition, and promote recovery, using endocrine-tropic interventions, both non-pharmacological and pharmacological in nature, by persons who may or may not be trained in endocrinology, until specialist endocrine care can be sought. The key vital measurements in endocrinology in addition to clinical examination are blood glucose levels, serum cortisol levels, blood pH and measurement of electrolytes including calcium when required. The patient may present with a primary endocrine emergency, or the endocrine dysfunction may accompany another serious illness, or an endocrine dysfunction may precede an unrelated medical emergency, or an endocrine emergency may follow another serious medical illness. The 5S mnemonic includes suspecting endocrine dysfunction, stratifying endocrine risks, sampling blood or urine, supporting endocrine vitals like glucose and cortisol and seeking expert opinion and help from endocrine specialists.Sheehan syndrome is an underestimated cause of hypopituitarism, which can be either partial or complete. It results from ischaemic necrosis of anterior pituitary during peripartum period leading to loss of one or more pituitary cell lines. Hyperplasia of pituitary gland during pregnancy increases demand for blood supply and at the same time compresses the pituitary gland. Severe postpartum haemorrhage leads to hypovolaemia and vasospasm of supplying vessels resulting in infarction of pituitary tissue. Congenital or acquired thrombophilia and autoimmunity exaggerate this phenomenon. Presentation is usually delayed by many years. It presents with symptoms of anterior pituitary hormone loss after a delay of many years. Rarely presentation may be acute or involve posterior pituitary as well. Low basal or stimulated pituitary hormones along with classic clinical setting clinches the diagnosis. Replacement of deficient hormones is the mainstay of treatment, however emphasis on better obstetric care to common masses would help to eradicate the disease in future.Gastric volvulus is a rare surgical emergency which is rare in children and occasionally presents in adults. It results due to pathological malrotation of the stomach along its longitudinal or short axis. The condition, if not treated promptly, can result in increased morbidity and carries a high risk of death. Very few cases have been reported in literature regards this important clinical condition. Early decompression and repair of anatomical defects are the corner stone of its management. There is a dire need to develop guidelines and algorithms for management and treatment of this rare condition to improve patient outcome, prevent recurrence and facilitate early diagnosis by practicing physicians and surgeons. We report three such cases which presented to our setup in emergency along with a brief description of how they were successfully managed.Merkel cell carcinoma (MCC) is a rare cutaneous neuroendocrine cancer that shows aggressive biological behaviour. Although it usually occurs on sun-exposed areas, it can sometimes be seen on non-sun-exposed sites. Here, we present the case of a 66-year-old woman with MCC arising from the right gluteal region that was treated with excision and adjuvant chemoradiotherapy. On follow-up after the 24 months, the patient was disease- and recurrence-free, representing the longest survival among patients with gluteal MCC. Early diagnosis and treatment are important to improve survival rates in patients with non-sun-exposed MCC.Ovarian cancer is the second biggest cause of gynaecological cancer related death in elderly women which is uncommon during reproductive age. We, herein present a thought-provoking case of an infertile woman who was diagnosed with stage IVA ovarian cancer just one year after the In Vitro Fertilisation cycles. A 37-year-old woman with secondary infertility who underwent three cycles of ovarian stimulation, had two grade II cleavage-stage embryos transferred, though they did not result in pregnancy in two years. During the IVF treatment, ovarian cyst puncture was performed and no malignant cells were observed. The following year, she suffered from abdominal pain with extremely elevated tumour markers and stage IVA ovarian carcinoma was confirmed by transabdominal operation. The patient underwent cytoreductive surgery and chemotherapy; however, she was insensitive to postoperative chemotherapy with poor CA 125. WM-8014 chemical structure The case aroused high attention regarding safety of IVF including standardisation and close long-term follow-up.Brown tumour (BT) is the pathological expression of osteitis fibrosa cystica which is caused due to primary and secondary hyperparathyroidism (HPT). It is a rare benign lesion of skeletal system that usually affects the facial bones, clavicles, ribs, pelvis and extremities. The purpose of this case report is to present the clinical, pathological and radiological findings of BT - rarely seen in adults - originating from the giant parathyroid adenoma and emerging as the first clinical sign of HPT. The patient underwent a successful parathyroidectomy and was discharged on the first postoperative day without any complications. Histopathologically, it was confirmed as parathyroid adenoma. With the increased use of biochemical tests, HPT is diagnosed and treated early and so the frequency of symptomatic HPT due to parathyroid adenoma has decreased in developed countries, but we still sometimes encounter cases of primary hyperparathyroidism (PHPT) occurring as BT. With multidisciplinary preoperative evaluation, surgical resection of bones is refrained from in order to prevent unnecessary morbidity and mortality, unless these osteolytic bone lesions cause a pathological fracture.Gastric antral vascular ectasia (GAVE) is a rare but important cause of upper gastrointestinal bleeding that may present with refractory anaemia or overt gastrointestinal bleeding requiring multiple admissions and resuscitation. Although endoscopic therapies are considered first line treatment for the management of refractory gastric antral vascular ectasia, angiographic embolisation of the culprit vessel(s) may emerge as an effective and safe treatment modality in the near future. Here, we present the case of a middle-aged gentleman with refractory gastric antral vascular ectasia, who was not responding to repeated sessions of Argon Plasma Coagulation (APC) and was successfully treated with trans-catheter arterial embolisation of gastro-duodenal artery.