Pak J Med Sci
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To determine the success rate and complications of primary endoscopic third ventri-culostomy (ETV) in infants with obstructive hydrocephalous. ⋯ ETV is successful in 57.1% of infants with obstructive type of hydrocephalous. The post op complications in case of ETV are lower than Ventriculo-peritoneal shunts. Therefore, ETV can be offered to infants having obstructive hydrocephalous.
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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 determine the stability of respiratory samples for SARS-CoV-2 PCR at standard laboratory ultra-freezer temperatures (-80°C). ⋯ SARS-CoV-2 positive respiratory specimens for PCR can be stored for up to six months at -70°C or below without loss of sample integrity, though there is some loss of PCR-detected viral targets as evidenced by an immediate increased in the PCR-generated Ct values. In addition, samples with initial Ct values above 30 are more likely to give non-reproducible results.
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There is a cross-link of insulin and insulin-like growth factor-1 (IGF-1) with each other's receptors. The present study was carried out to explore the relationship of Type-2 diabetes mellitus (T2DM) with the occurrence and development of breast cancer by analyzing the expression of IGF-1R and Ki-67, as well as the biological characteristics in breast cancer patients with and without diabetes mellitus. ⋯ T2DM may be one of the risk factors affecting the occurrence, development and prognosis of breast cancer, which may decrease the 5-year survival of breast cancer patients. Besides, high expressions of IGF-1R and Ki-67 may be the key factors for poor prognosis of breast cancer patients with diabetes mellitus.
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To determine the frequency of place of delivery and person detecting the anomaly among newborn babies presenting with delayed diagnosis of anorectal malformation (ARM). ⋯ It is concluded that Non-medical person detected ARM mainly despite the babies being delivered mostly at the hospital, indicating the need for meticulous neonatal examination.