Pak J Med Sci
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Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have been identified so far. The objective of this study was to find out the novel genes or mutations leading to the genetic defect in a Saudi family with primary microcephaly. ⋯ A compound heterozygous mutations c.797C>T in exon 7 and c.1102G> A in exon 9 of the WDR62 gene was identified. WDR62 gene is very important gene and mutation can lead to neuro developmental defects, brain malformations, reduced brain and head size. These results should be taken into consideration during prognostic discussions and mutation spectrum with affected patients and their families in the Saudi population.
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The sub hepatic drain is often placed after laparoscopic cholecystectomy is considered to affect post operative infection, pain and sub hepatic collections. The objective of this study was to compare the degree of postoperative pain in patients with routine drainage with those without it after elective, uncomplicated laparoscopic cholecystectomy. ⋯ Routine placement of sub hepatic drain in elective uncomplicated laparoscopic cholecystectomy should be avoided to reduce post-operative pain.
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To determine frequency of hepatitis-C in dialysis patients at start of hemodialysis, seroconversion from HCV negative to HCV positive over study duration and factors affecting seroconversion. ⋯ Frequency of HCV seroconversion among chronic hemodialysis patient is found to be 53.37%. Arteriovenous access, number of dialysis, reuse of dialyzer and blood transfusions are important risk factors.
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Patients who undergo Total thyroidectomy are at higher risk for postoperative hypocalcaemia, which can lead to significant short and long term morbidity. The aim of this study was to determine the frequency of postoperative hypocalcaemia undergoing Total thyroidectomy. ⋯ Hypocalcaemia is one of major concern following total- thyroidectomy. Meticulous surgical techniques, identification and preservation of vascularity of parathyroid glands are essential in preventing postoperative hypocalcaemia following total thyroidectomy.
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To measure the frequency of uncorrected ametropia in children with 2 to 8 weeks of persistent headache referred to ophthalmic outpatient department for evaluation. ⋯ A significant proportion of children with ametropia have initial symptoms of headache. Any child with un-explained headache must undergo ophthalmic evaluation to diagnose refractive error, if any.