Pak J Med Sci
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The assessment of histopathological risk factors (HRFs) in retinoblastoma in upfront enucleated eyes is important in deciding treatment protocols. Limited data is available from the developing countries as very few studies were conducted on retinoblastoma. The study aims to report this data from Pakistan. ⋯ The presence of high risk histopathological factors in enucleated eyes diagnosed with retinoblastoma are known to have a profound impact on the risk stratification as well as decision of future treatment plan.
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Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH. ⋯ We report a novel mutation in ASPM and ultra-rare mutation in the CDK5RAP2 gene, both causing primary microcephaly. The study expands the mutational spectrum of the ASPM gene to 212, and also adds to the clinical spectrum of CDK5RAP2 mutations. It also demonstrated the utility of WES in the investigation and genetic diagnosis of genetically heterogeneous disorders like MCPH. These findings would aid in diagnostic and preventive strategies including carrier screening, cascade testing, and genetic counselling.
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To study the effect of a seven-step rehabilitation training program on cardiac function and quality of life in acute myocardial infarction (AMI) patients after percutaneous coronary intervention (PCI). ⋯ The seven-step rehabilitation training program has a significant effect on improving AMI patient quality of life and cardiac function post-PCI, and is worthy of continued study and promotion.
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To investigate the effect and clinical value of the application of vacuum assisted closure (VAC) combined with multiple flaps in the treatment of severe hand trauma. ⋯ VAC combined with multiple flaps boasts significant trauma repair effect and preferable clinical application value in the treatment of patients with severe hand trauma, which is principally reflected in significantly improving the hand function of patients and remarkably alleviating the inflammatory response of patients.
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To assess proliferative diabetic retinopathy (PDR) and to describe the difference in angiographic representation of new vessels (NVs) and Intra retinal microvascular abnormalities (IRMA) on optical coherence tomography angiography (OCTA). ⋯ Widefield OCTA can work as an alternative to fundus fluorescein angiography (FFA) in the diagnosis of diabetic retinopathy (DR). As it is a non-invasive and depth encoded technique so can be used frequently to monitor the retinal changes and their progression.