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 discuss the influence of coronary artery lesion of elderly patients with coronary heart disease (CHD) on left ventricular remodeling. ⋯ The number of coronary artery lesions is significantly correlated with left ventricular remodeling, and can increase the proportion of calcified plaque and mixed plaque, thus leading to left ventricular remodeling abnormity.
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In the present study, we investigated the efficacy of bladder hydrodistension combined with pentosan polysulfate (PPS) treatment in interstitial cystitis (IC)/bladder pain syndrome (BPS). ⋯ The study results indicate that PPS treatment started just after hydrodistension yields significantly better results in terms of both symptom improvement and treatment compliance in patients with IC/BPS.
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To determine 3rd generation cephalosporin resistance in patients with community-acquired spontaneous bacterial peritonitis (SBP) using early response assessment. ⋯ Cephalosporin resistance was present in 16.2% of study patients with community-acquired SBP. Mortality in SBP patients is associated with advanced stage of liver disease.
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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.