Pak J Med Sci
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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.
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To investigate the clinical effects of HBV infection on patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). ⋯ Patients in the RA and SLE groups after HBV infection have an increased degree of inflammatory response in their organism, an altered normal state of immunoglobulin and T-lymphocyte subsets, and a loss of organism immune function, leading to an increase in disease activity.
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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.
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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.
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To explore the effect of different chemotherapy schemes on the prognosis, immune function and adverse reactions of breast cancer patients with low HER-2 expression after surgery. ⋯ The chemotherapy combination of liposome-encapsulated doxorubicin+cyclophosphamide can significantly improve immune function and greatly reduce the occurrence of adverse reactions in early-stage breast cancer patients with low HER-2 expression after surgery. It has the same effect as docetaxel+cyclophosphamide in improving the prognosis of patients.