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Efficacy of a Mobile Health-Based Behavioral Treatment for Lifestyle Modification in Type 2 Diabetes Self-Management: Greenhabit Randomized Controlled Trial.
J Med Internet Res
January 2025
Department of Internal Medicine, Hospital Clinic, Institut d'Investigacio Biomèdica August Pi i Sunyer, Barcelona, Spain.
Background: Enhancing self-management in health care through digital tools is a promising strategy to empower patients with type 2 diabetes (T2D) to improve self-care.
Objective: This study evaluates whether the Greenhabit (mobile health [mHealth]) behavioral treatment enhances T2D outcomes compared with standard care.
Methods: A 12-week, parallel, single-blind randomized controlled trial was conducted with 123 participants (62/123, 50%, female; mean age 58.
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 PDFCase Report: A Novel Homozygous Variant in the Gene Causes Fanconi Anemia.
Genet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
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.
South Asia has high prevalence rates of type 2 diabetes (T2D). Until the 1990s, the prevalence of T2D within South Asia was low but much higher in the South Asian diaspora living abroad. Today, high prevalence rates of T2D are reported among those living in South Asia.
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