Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jul 2021
Observational StudyTargeted Next-generation Sequencing for Reliable Detection of Genetic Status in Breast Cancer.
To test the germline oncogenic mutations in BRCA1 and BRCA2 genes, associated with triple-negative breast cancer (TNBC) patients under study, by targeted sequencing of their DNA with next-generation sequencing (NGS) platform. ⋯ Germline variants in BRCA were detected in the known cases of TNBC, which will not only identify the most prevalent mutations in this region; but will also make them a candidate to receive targeted therapies, which was previously not possible without genetic testing. Moreover, this study further validates the importance of early BRCA genetic screening in young patients, who have positive family history of breast carcinoma. Key Words: Breast cancer, Triple negative, Next-generation sequencing, BRCA1, BRCA2.
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J Coll Physicians Surg Pak · Jul 2021
Association of Alpha 1-antitrypsin Deficiency and Genetic Predisposition in Primary Spontaneous Pneumothorax.
To determine the association of alpha-1 antitrypsin deficiency (AATD) in patients diagnosed with primary spontaneous pneumothorax (PSP), the presence of the SERPINA 1 gene, and the phenotype in patients with low enzyme values. ⋯ AAT level was found to be lower in the patient group compared to the control group. In addition, the effect of SERPINA 1 gene on PSP development was found to be benign. AATD is an effective factor in the development of PSP. Key Words: Primary spontaneous pneumothorax, Alpha 1 antitrypsin deficiency, Genotype variants, SERPINA 1 gene.
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J Coll Physicians Surg Pak · Jul 2021
Platelet-to-Lymphocyte and Neutrophil-to-Lymphocyte Ratio as Predictive Biomarkers for Early-onset Neonatal Sepsis.
To determine the predictive significance of platelet-to-lymphocyte ratio (PLR) and neutrophil-to-lymphocyte ratio (NLR) in early-onset neonatal sepsis (EONS). ⋯ Peripheral blood NLR and PLR have high predictive value for EONS. The predictive value of NLR as a biomarker for EONS evaluation was greater than that of PLR. Key Words: Neonatal sepsis, Logistic models, ROC curve, Blood cell count.
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Kawasaki disease (KD) is a systemic vasculitis of unknown cause affecting children under 5 years of age. It is thought to be triggered by several viruses. Recently, Kawasaki-like disease has been reported worldwide in patients with COVID-19, giving rise to a new term of multi-system inflammatory syndrome in children (MIS-C). ⋯ Patient was followed one week later with repeat echocardiography, which showed improvement. In conclusion, early recognition and timely treatment can prevent adverse outcomes in MIS-C. Key Words: COVID-19, Kawasaki disease, MIS-C.
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J Coll Physicians Surg Pak · Jul 2021
Case ReportsNerve-preserving Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy for Advanced Primary Caecal Cancer Invading Pelvic Side-wall: Report of a Case With Right Leg Limping.
Radical surgery to achieve optimal cytoreduction in locally advanced caecal cancer may dictate femoral or sciatic nerve resection, especially in cases with pelvic side-wall involvement. In such a situation, gait disturbance is inevitable. A 61-year male with a new-onset right leg limping due to locally advanced right colon carcinoma underwent cytoreductive surgery (CRS) with partial resection of right pelvic side- wall, and hyperthermic intraperitoneal chemotherapy (HIPEC). ⋯ Completeness of cytoreduction score was zero (CC0). The resection of all macroscopic disease is the main goal of CRS, but as seen in our case with tumor-related walking difficulty, nerve-sparing CRS and HIPEC may prevent further deterioration of the situation. Key Words: Cytoreductive surgery, Hyperthermic intraperitoneal chemotherapy, Sciatic nerve, Femoral nerve, Caecal cancer.