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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To evaluate the concentration of N terminal proBNP (NT-proBNP) and partially the serum uric acid in the severe condition of aortic valve dysfunction for assessment of left ventricle hypertrophy. ⋯ Increased secretion of NT-proBNP during cardiac remodeling can be related to the severity of left ventricle hypertrophy due to aortic valve abnormality in all the disease groups of severe stenosis, severe regurgitation, and combine disease condition of severe stenosis and severe regurgitation. However, non-significant increase in uric acid concentration is also identified which may be due to one of the factors involved in left ventricle hypertrophy in all the three disease groups of aortic valve. The interaction of uric acid with NT-proBNP during cardiac remolding due to aortic valve dysfunction is still not clear.
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To investigate the factors which might influence the sonographic fetal weight estimation (SFWE) accuracy. ⋯ SFWE has a high correlation with NBW, however it's accuracy is still unsatisfactory, and depend on many unpredictable and inconsistent factors.
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To document the presentation of tibial infected non-union and analyze the management outcome with Ilizarov technique in terms of bone results, functional outcome, bone transport time, external fixation time, external fixation index and any complications. ⋯ Ilizarov method beautifully addresses the formidable issue of infected non union of tibia with good outcome in terms of bone healing and infection eradication. The treatment period is relatively lengthy and hence patience on part of patient as well as the surgical team is imperative for achieving favourable outcomes.
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We aimed to investigate the oxidative stress status in children with β-thalassemia major (β-TM) by measuring native thiol (SH), disulfide (SS) and total thiol (SH + SS) plasma levels. ⋯ We found that the SS/SH ratio was high in patients with β-TM, which shows increased oxidative stress. This ratio may be considered as a tool for the determination of oxidative status in such patients due to easily calculate, suitable for routine use and economical.