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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFAdditive Value of Polygenic Risk Score to Family History for Type 2 Diabetes Prediction: Results From the All of Us Research Database.
Diabetes Care
February 2025
Division of Blood Disorders and Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.
Objective: The goal of this study was to assess the additive value of considering type 2 diabetes (T2D) polygenic risk score (PRS) in addition to family history for T2D prediction.
Research Design And Methods: Data were obtained from the All of Us (AoU) research database. First-degree T2D family history was self-reported on the personal family history health questionnaire.
Clinical Characteristics of Hospitalized Children With Coronavirus Disease 2019 After the Spread of the BA.5 Omicron Variants in Japan.
Pediatr Infect Dis J
January 2025
From the Department of Pediatrics, Niigata University, Graduate School of Medical and Dental Sciences, Niigata, Japan.
Background: The spread of the BA.5 Omicron variant of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has increased the number of hospitalized children. However, the impact of the spread of new omicron subvariants in children remains poorly described.
View Article and Find Full Text PDFCHROMOPHOBE HEPATOCELLULAR CARCINOMA: DIAGNOSTIC CHALLENGES.
Arq Bras Cir Dig
January 2025
Mongi Slim Hospital, Department of Pathology - Marsa, Tuni, Tunísia.
Background: Hepatocellular carcinoma (HCC) encompasses rare variants like chromophobe hepatocellular carcinoma (CHCC) characterized by distinct histological features and molecular profiles.
Case Report: A 56-year-old male with chronic hepatitis C, presenting pain in the right hypochondrium. Imaging revealed a solitary liver lesion, subsequently resected and histologically diagnosed as HCC.
Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.
Mol Biol Rep
January 2025
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.
Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.
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