Τετάρτη 24 Οκτωβρίου 2018
Cervical Spine Movement in a Cadaveric Model of Severe Spinal Instability: A Study Comparing Tracheal Intubation With 4 Different Laryngoscopes
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Complex congenital cardiac anomalies in the setting of right isomerism in a 31-month-old infant: a case report
Congenital cardiac defects are not rare among neonates. Prompt assessment for life-threatening anomalies is essential for rapid management decisions and positive outcomes. Extracardiac anomalies can occur in c...
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Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report
Hereditary polyglucosan inclusion body myopathy of the internal anal sphincter is a rare cause of proctalgia fugax and constipation. Treatment options are explored.
https://ift.tt/2PTxT4b
Τρίτη 23 Οκτωβρίου 2018
APRT deficiency: the need for early diagnosis
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.
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Congenital hypoplasia of depressor anguli oris muscle (CHDAOM): an uncommon cause of asymmetric crying facies in childhood
Description
A 2-year-old developmentally normal girl presented to us with a history of deviation of angle of mouth to right only during crying, persisting from neonatal period. She was born at term by normal vaginal delivery to a primigravida mother with a birth weight of 2.2 kg and smooth perinatal transition. Parents noticed asymmetry of face from neonatal period visible only during crying, which disappeared when she was consoled, without any drooling, regurgitation of feeds or poor sucking. There is no history suggestive of any other neurological or systemic abnormality in index case or in family.
Local examination revealed thinning of lower lip near left angle of mouth on palpation. There was no facial asymmetry while the child was calm (figure 1A), however, on crying there was deviation of the angle of mouth downwards and towards right side (figure 1B). There was no evidence of hypoplasia...
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Perspectives on Dexmedetomidine Use for Neurosurgical Patients
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Sinking Skin Flap Syndrome: Phenomenon of Neurological Deterioration after Decompressive Craniectomy
Sinking skin flap syndrome is rare phenomenon that occurs in patients with large craniectomies. Alteration in normal anatomy and pathophysiology can result in wide variety of symptoms including altered mental status, hemodynamic instability, and dysautonomias. Management is largely conservative. We here present a case of a patient with large craniectomy who was admitted to our hospital with pneumonia. Later on, he developed worsening mental status and CT head revealed sinking skin flap with significant midline shift. This is a very rare case of neurological deterioration after craniectomies, commonly known as sinking skin flap syndrome. To our knowledge, only few cases have been reported so far.
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