7 research outputs found
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
\ua9 2023, The Author(s).Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population. We investigated the rare mutational and phenotypic spectrum of the DMD gene in 36 DMD-suspected Bangladeshi participants using an economically affordable diagnostic strategy involving initial screening for exonic deletions in the DMD gene via multiplex PCR, followed by testing PCR-negative patients for mutations using whole exome sequencing. The deletion mapping identified two critical DMD gene hotspot regions (near proximal and distal ends, spanning exons 8–17 and exons 45–53, respectively) that comprised 95% (21/22) of the deletions for this population cohort. From our exome analysis, we detected two novel pathogenic hemizygous mutations in exons 21 and 42 of the DMD gene, and novel pathogenic recessive and loss of function variants in four additional genes: SGCD, DYSF, COL6A3, and DOK7. Our phenotypic analysis showed that DMD suspected participants presented diverse phenotypes according to the location of the mutation and which gene was impacted. Our study provides ethnicity specific new insights into both clinical and genetic aspects of DMD
Microeconomics Impacts of COVID-19 Pandemic: Media Analysis
COVID-19 known as a novel Coronavirus in entire world when first case of acute pneumonia found in Wuhan, China in 2019 with severe viral infection. Coronavirus have been still able to maintain its fear and panic among in every country and every individual. At a side where macroeconomics is dealing with whole major changes in economy and on other side microeconomy is usually tells the common attitude, behavior and perception of people in particular region for COVID-19. Before invention of vaccine for Coronavirus, communication channels, media, religious societies had shown a major role to make fear in local people’s mind and these all information had been leading the worldwide panic and critical situations. Although a survey revealed that media and all communication channels were responsible for made panic among population and situations had gone wrong. Despite following precautions and administrative orders by all individual but sufferings became worst. From recent studies it has concluded that microeconomics of World’s status in terms of COVID-19 has become negative and from past two years every firm and individual has been going through a major loss