Pak J Med Sci
-
The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia. ⋯ BCL11A and Xmn-l polymorphisms are important secondary modifiers in patients with thalassaemia intermedia in Northern Punjab.
-
To compare and analyze the clinical effects of microscopic surgery and conventional surgery in children with penile hypospadias and the differences in postoperative urodynamic indexes. ⋯ Microscopic surgery is a method with significant clinical value in the treatment of penile hypospadias.
-
To investigate the causes of death in patients with chronic renal failure (CRF) on maintenance hemodialysis and its influencing factors. ⋯ Cardiovascular and cerebrovascular diseases are the leading cause of death in patients with chronic renal failure on maintenance hemodialysis. Adequate dialysis and normal hemoglobin levels are favorable protective factors.
-
Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 is one of the most common and a water-soluble protein of lens's that code for the βB2-crystallin. This study aimed to investigate the novel silent mutation in CRYBB2 of exon six in the Pakistani families of Autosomal Dominant Congenital Cataracts (ADCC). ⋯ This study investigated a novel important sequence variant in the beta-crystalline protein that causes autosomal dominant congenital cataract (ADCC) in Pakistani families. Thus, our study enlarges the CRYBB2 mutation spectrum and associated phenotypes to help clinical diagnosis of human genetic diseases.
-
Molecular detection and co-presence of carbapenem-resistant genes in the isolates of Pseudomonas aeruginosa are less commonly reported from Quetta. In the present study, we determined to highlight the antibiotic sensitivity profile and genetic mechanism of carbapenem resistance. ⋯ The emergence of MBL and ESBL producers is an alarming threat in the region. It is of great importance to determine the resistance mechanism of bacterial bugs. The lack of new antimicrobials particularly against gram-negative bacteria is quite alarming worldwide.