Publications by authors named "R K Puri"

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

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Lumpy skin disease (LSD) has emerged as a threat to cattle production in Asia, and India has been facing LSD epidemics since 2019. Although water buffalo (Bubalus bubalis) is susceptible to natural LSDV infection, there have been no confirmed reports of LSDV infection in water buffalo in India. In this study, we investigated suspected cases of LSD in water buffaloes from 12 Indian states and one union territory during 2020-2023.

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Article Synopsis
  • The disorder discussed leads to autosomal recessive microcephaly and chorioretinopathy, recently identified as a syndrome due to distinct eye-related symptoms and overlapping features like short stature and microcephaly.
  • A case study details the first Indian family displaying this disorder, where an affected child and fetal sibling shown to have microcephaly and brain abnormalities underwent extensive genomic testing confirming their condition.
  • The findings reveal novel genetic variants and underscore the complexity of diagnosis, emphasizing the importance of whole genome sequencing in rare conditions.
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Introduction: People living with human immunodeficiency virus (PLHIV) are known to have an increased prevalence of traditional cardiovascular risk factors and are at a higher risk of cardiovascular disease (CVD). This study was done to assess the CVD risk factors in treatment naïve PLHIV in a center of the national program.

Methods: In this cross-sectional explorative study, traditional CVD risk factors were assessed, and 10-year Framingham and atherosclerotic cardiovascular disease (ASCVD) risk score were calculated in treatment naïve PLHIV attending the antiretroviral therapy (ART) center, IMS, BHU.

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