Assessing sex assignment concordance with genotype and phenotype

Assessing sex assignment concordance with genotype and phenotype

OBJECTIVES To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. DESIGN After obtaining IRB approval, a retrospective chart revi...

Genotype and phenotype of COVID-19: Their roles in pathogenesis

COVID-19 is a novel coronavirus with an outbreak of unusual viral pneumonia in Wuhan, China, and then pandemic. Based on its phylogenetic relationships and genomic structures the COVID-19 belongs to genera Betacoronavirus. Human Betacoronaviruses (SARS-CoV-2, SARS-CoV, and MERS-CoV) have many similarities, but also have differences in their genomic and phenotypic structure that can influence th...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Thiopurine S-methyltransferase and Pemphigus Vulgaris: A Phenotype-Genotype Study

Background & Objective:  Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased activity lead...

Genotype-phenotype association of TGF-β1 and GST with chemo-radiotherapy induced toxicity

Background: Normal tissue toxicity continues to remain as a major challenge for radiation oncologists for delivering the total dose to the tumour cells in cancer patients. Cellular, molecular and plasma based early biomarkers to predict the overreactions and non-overreactions of normal tissue toxicity before the initiation of radiotherapy can be valuable for personalised treatment. The aim of t...