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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Altered Pattern of the Global Muscle system is presented in literature among individuals with sacroiliac Joint Dysfunctions. However, the pattern of changes in the Latissimus dorsi (LD) and gluteal maximus (GM) among sacroiliac joint dysfunctions (SIJD) is not reported. This study aimed to investigate the changes in the resting muscle thickness of the Latissimusdorsi and gluteal maximus in SIJD. ⋯ The reduced resting muscle thickness showed an altered motor pattern of Deep Muscles of local system and Gross muscles of global system among patients with sacroiliac joint dysfunction.
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White blood cell (WBC) count to mean platelet volume (MPV) ratio (WMR) is associated with major adverse cardiovascular events in patients with non-ST elevation acute coronary syndrome (NSTEMI). We aimed to compare WMR between NSTEMI patients and matched-controls and to evaluate its predictive value on SYNTAX score. ⋯ WMR value was significantly elevated in NSTEMI patients, compared to controls. Higher WMR was associated with greater SYNTAX score in patients with NSTEMI. WMR may be used to predict severity of the CAD and to implement risk stratification in patients with NSTEMI.
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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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This study was conducted to explore the relationship between 1,25-dihydroxy vitamin D (1,25(OH)2D) and Vitamin-D binding protein (DBP) in patients with periodontitis and healthy controls. ⋯ Within the limits of the study, we conclude that low 1,25(OH)2D levels and high DBP levels are associated with periodontitis.