Pak J Med Sci
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Genetic polymorphisms in genes involved in growth process and Vitamin-D metabolism form a significant etiology behind growth hormone deficiency and short stature. The aim of this study was to explore for known and unknown genes and variants related to growth hormone and short stature in a family based study using whole exome sequencing (WES). ⋯ Our findings suggest a potential association of these variants with growth hormone deficiency and short stature. In this study, novel pathogenic variants in RNPC3 were revealed as well as other variants in ACAN and in genes related to Vitamin-D metabolism (GC, VDR and LRP2) that some or all might be associated with growth hormone deficiency. Further large-scale studies are required to address the association of these variants with growth hormone deficiency and its subsequent short stature.
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To assess prognostic nutritional index (PNI) and controlling nutritional status (CONUT) score could predict overall survival (OS) and disease-free survival (DFS) in patients with breast cancer. ⋯ Our results indicate that PNI is an important prognostic factor for patients with breast cancer. Pre-treatment low PNI is associated with worse OS and DFS. Scarce data also indicates that a high CONUT score is predictive of poor OS in breast cancer.
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Pediatric high-grade glioma (pHGG) is highly malignant central nervous system tumor and constitute 10% of the pediatric gliomas. Effective treatment needs a functioning multi-disciplinary team including pediatric neuro oncologist, neurosurgeon, neuroradiologist, neuropathologist and radiation oncologist. Despite surgical resection, radiotherapy and chemotherapy, most HGG will recur resulting in early death. ⋯ The use of TMZ is now avoided in CMMRD related HGG due to its limited response and known ability to increase the accumulation of somatic mutations in these patients, increasing the risk of secondary tumors. HGG should be managed under the care of multidisciplinary team to receive optimum treatment. This is particularly important for low middle-income countries (LMIC) with limited resources like Pakistan.
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To compare the efficacy and safety of left lateral decubitus versus prone position during endoscopic retrograde cholangio-pancreaticography (ERCP). ⋯ The study concludes that LL is non-inferior to PP and both positions have comparable outcomes with non-significant differences in terms of technical success rate, complications (specifically PEP), total procedure time, time required for deep cannulation and attainment of goal, ERCP complexity level and inadvertent PD cannulation.
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To evaluate the role of paracetamol in reducing pain and discomfort during the mammography procedure. ⋯ The use of paracetamol prior to the mammography procedure was found to be an effective intervention to reduce the pain among women.Clinical Trials: Identifier: NCT04381104.