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| http://dx.doi.org/10.1136/gutjnl-2022-326958 | DOI Listing |
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Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
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December 2024
Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Background: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease.
View Article and Find Full Text PDFGenetic predisposition of metabolic dysfunction-associated steatotic liver disease: a population-based genome-wide association study.
Hepatol Int
January 2025
Division of Gastroenterology and Hepatology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Background/purpose: Although metabolic dysfunction-associated steatotic liver disease (MASLD) has been proposed to replace the diagnosis of non-alcoholic fatty liver disease (NAFLD) with new diagnostic criteria since 2023, the genetic predisposition of MASLD remains to be explored.
Methods: Participants with data of genome-wide association studies (GWAS) in the Taiwan Biobank database were collected. Patients with missing data, positive for HBsAg, anti-HCV, and alcohol drinking history were excluded.
The Relationship of HbA1c Serum Levels with the Severity of Periodontal Disease in Patients with Type 1 Diabetes Mellitus: A Cross-Sectional Study.
Eur J Dent
December 2024
Department of Medicine and Oral Surgery, University Institute of Health Sciences (IUCS-CESPU), Gandra, Portugal.
Objective: According to the evidence, the level of glycemic control is of key importance in determining the increased risk of periodontal disease (PD). The aim of the study was to evaluate the role of metabolic control as a key factor leading to the development and severity of periodontitis and compare the periodontal and oral hygiene status with the glycated hemoglobin levels.
Materials And Methods: The evaluation was undertaken with diabetic patients (59 uncontrolled diabetics and 36 controlled diabetics) from a patient cohort of the Hospitalar Center of Tâmega e Sousa and subjects without diabetes ( = 95).
Rotator Cuff Tear and Associated Risk Factors. The Mutual Role of Medical Conditions.
Sports Med Arthrosc Rev
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Department of Anatomical, Histological, Forensic Medicine and Orthopaedics Sciences, Sapienza University of Rome, Rome, Italy; Istituto Clinico Ortopedico Traumatologico (ICOT), Latina, Italy.
Unlabelled: Several medical conditions (diabetes, cardio-vascular diseases, hypercholesterolemia etc.) or modifiable behavioral habits (smoking habit and alcohol assumption) capable of causing a damage to the peripheral microcirculation are considered potential risk factors for degeneration/tear of the rotator cuff. The aim of the study was to analyse and quantify how the association of multiple known risk factors is more effective than the predisposing action of a single factor.
View Article and Find Full Text PDFThe role of personality traits and life stress in alcohol use disorder: Insights from NGF gene polymorphisms of Han Chinese population in Taiwan.
Prog Neuropsychopharmacol Biol Psychiatry
December 2024
Department of Psychiatry, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC; Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan, ROC. Electronic address:
Objective: Alcohol use disorder (AUD) is a complex neuropsychiatric condition influenced by genetic and environmental factors. Nerve growth factor (NGF) plays a crucial role in neuronal neuroplasticity and chronic alcohol consumption may alter NGF levels in specific brain regions. The study investigates the associations between NGF gene polymorphisms, susceptibility to AUD, and specific stress and personality characteristics.
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