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[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFBackground: Understanding site-related factors that influence enrolment within multicenter randomized controlled trials (RCT) may help reduce trial delays and cost over-runs and prevent early trial discontinuation. In this analysis of PROSPECT (Probiotics: Prevention of Severe Pneumonia and Endotracheal Colonization Trial), we describe patient enrolment patterns and examine factors influencing site-based monthly enrolment.
Design: Retrospective analysis of a multicenter RCT.
Association of plasma BDNF and MMP-9 levels with mild cognitive impairment: a matched case-control study.
Sci Rep
December 2024
Department of Public Health, School of Medicine, Shihezi University, Shihezi, Xinjiang, China.
The prevalence of Alzheimer's disease (AD) is on the rise globally, and everyone who develops AD eventually experiences mild cognitive impairment (MCI) first. Timely intervention at an early stage of the disease may mitigate disease progression. Recent studies indicate that BDNF and MMP-9 play a significant role in the pathogenesis of AD.
View Article and Find Full Text PDFA machine learning tool for early identification of celiac disease autoimmunity.
Sci Rep
December 2024
Kahn Sagol Maccabi Research & Innovation Center, Maccabi Healthcare Services, Tel Aviv, Israel.
Identifying which patients should undergo serologic screening for celiac disease (CD) may help diagnose patients who otherwise often experience diagnostic delays or remain undiagnosed. Using anonymized outpatient data from the electronic medical records of Maccabi Healthcare Services, we developed and evaluated five machine learning models to classify patients as at-risk for CD autoimmunity prior to first documented diagnosis or positive serum tissue transglutaminase (tTG-IgA). A train set of highly seropositive (tTG-IgA > 10X ULN) cases (n = 677) with likely CD and controls (n = 176,293) with no evidence of CD autoimmunity was used for model development.
View Article and Find Full Text PDFDevelopmental delay and associated factors among HIV-infected under-five children in public health facilities, Southern Ethiopia.
Sci Rep
December 2024
School of Health and Medical Science, Centre for Health Research, University of Southern Queensland, Toowoomba, Australia.
Delays in development that occur during early childhood can have long-lasting consequences, potentially leading to poor academic achievement. Research has shown that the human immunodeficiency virus can have neurotropic effects, which may impact the development of the brain in infected children. However, there is a scarcity of evidence regarding developmental delays among children with human immunodeficiency virus in the study area.
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