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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
Huma Tariq,Rashid Imran,Sadaf Naz 대한신경과학회 2018 Journal of Clinical Neurology Vol.14 No.4
Background and Purpose Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. Methods Detailed clinical investigations were carried out on probands in two consanguineous families. Magnetic resonance imaging was performed. Exome sequencing data were examined for likely pathogenic variants. Candidate variants were checked for cosegregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP, and the 1,000 Genome Project as well as ethnically matched controls were checked to determine the frequencies of the alleles. Conservation of missense variants was ensured by aligning orthologous protein sequences from diverse vertebrate species. Results Reverse phenotyping identified spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families. A novel homozygous missense mutation c.202 C>T (p. Arg68Cys) was identified within senataxin, SETX in the DNA of both patients in one of the families with AOA2. The patients in the second family were homozygous for a known variant in ataxia-telangiectasia mutated (ATM) gene: c.7327 C>T (p.Arg2443Ter). Both variants were absent from 100 ethnically matched control chromosomes and were either absent or present at very low frequencies in the public databases. Conclusions This report extends the allelic heterogeneity of SETX mutations causing AOA2 and also presents an asymptomatic patient with a pathogenic ATM variant.
Migration in propinquity with development: a spatial analysis of Kashmir Valley, India
Peer Jeelani,Farzana Ahad,Shamim Ahmad Shah,Huma Rashid,Nazia Bano 대한공간정보학회 2023 Spatial Information Research Vol.31 No.4
Migration is the primary demographic process that shapes where people live and plays an essential role in how humans have changed over time. People migrate for various reasons, but the predicted economic disparity between industrialized and developing regions is a powerful motivator for people to relocate. As a result, migration has an impact on development, and development also affects migration. Because of the vast differences in development among India's regions, the future of population dynamics will rely more on migration than fertility and mortality processes. The present paper analyzes the spatial patterns of internal migration, variations in the level of development, and the propinquity between the two. Secondary data were used from the census of India, government reports, and research publications. Data were analysed using Karl Pearson's correlation coefficient and a t-test to test the observed correlation's significance. The results revealed a high positive correlation between internal migration and levels of development (r = 0.791). Out of thirty-three development variables, only sixteen have a higher significant relationship with internal migration, which mainly determines population characteristics, education facilities, employment opportunities, and infrastructural facilities.