Pak J Med Sci
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Case Reports
Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh.
Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythematous tongue with restricted movement and widespread dermatoses. ⋯ Both the parents were unaffected heterozygous carriers. To our knowledge, this is the first case report of lipoid proteinosis with evidence of a novel nonsense genetic mutation from Bangladesh.
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To evaluate the various temporary transvenous pacemaker (TPM) access sites, its indications, procedural complications, and outcomes of patients. ⋯ Atrioventricular block is the commonest indication for temporary pacing in our study. The average time the TPM remained in place was significantly higher in the trans jugular approach group along with a higher complication rate in this group.
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To investigate the clinical effects of NRLP1 expression in patients with ST-segment elevation myocardial infarction (STEMI) combined with arrhythmia. ⋯ The NLRP1 pathway is associated with the presence of arrhythmias after PCI treatments, and the NLRP1 expression level may be useful as a predictor of arrhythmia in patients with STEMI.
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To evaluate the value and compliance rate of voiding vesicoureteral urosonography in pediatric vesicoureteral reflux (VUR). ⋯ Voiding vesicoureteral urosonography has a high coincidence rate in the detection of vesicoureteral reflux in children.
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To assess the effectiveness of GLP-1RAs in managing obese T2DM patients. ⋯ GLP-1RAs showed favorable weight and HbA1c reduction among patients of all three treatment groups.