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Frontiers | Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa

Frontiers | Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
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Frontiers | Insights Into Excess Mortality During the First Months of the COVID-19 Pandemic From a Rural, Demographic Surveillance Site in Bangladesh

Health Systems and Population Studies Division, icddr, b, Dhaka, Bangladesh Background: Coronavirus disease 2019 (COVID-19) has spread globally, and the government of each affected country is publishing the number of deaths every day. This official figure is an underestimate as it excludes anybody who did not die in a hospital, who did not test positive, who had a false result, or those who recovered on their own without a test. Objective: This study aimed to measure the community level excess mortality using health and demographic surveillance in a rural area of Bangladesh. Method: The study was conducted in Matlab, in a rural area of Bangladesh, with a Health and Demographic Surveillance System (HDSS) covering a population of 239,030 individuals living in 54,823 households in 142 villages. We examined the mortality in January-April from 2015 to 2020 and compared the mortality in 2020 with the historical trend of 2015–2019. Between 2015 and 2020, we followed 276,868 people unti

Pregnancy Following Diagnosis of Adrenoleukodystrophy

Background: Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. ABCD1 is a gene related to ALD, with more than 850 unique mutations have been reported. Early diagnosis of the disease would help to consult families with ALD to plan for interventions to prevent passing along the pathogenic mutations to their children. Material and Methods: A heterozygous ABCD1 gene mutation related to ALD found in a Vietnamese woman was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation. Then, combining sequencing methods for the PCR products, especially Sanger sequencing and next-generation sequencing (NGS), a protocol was developed to detect mutations on the

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