Results 51 to 60 of about 11,988 (216)

Systematic Multi‐Trait Study of Genetic Correlation and Causality Relationships Between General Medical Conditions and Mental Disorders

Acta Psychiatrica Scandinavica, EarlyView.
ABSTRACT Introduction Increasing evidence has highlighted bidirectional associations between mental disorders and general medical conditions, with underlying causes ranging from lifestyle habits and side effects from medications to genetic contributions. Novel methods now provide a way to estimate the shared genetic underpinnings and the possibility of
Ron Nudel, Maria Da Re, Michael E. Benros   +2 more
wiley   +1 more source

A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics

Annals of Human Genetics, EarlyView.
Abstract The paper explores Lionel Penrose's scientific work. Penrose investigated the causes of mental disorders from clinical and genetic points of view. His investigations on phenylketonuria and Down syndrome helped to demonstrate the heterogenous character of mental disorders, whose causes can range from genetic with high penetrance, to largely ...
Maria Kiladi
wiley   +1 more source

Dried Blood Spot Analysis for Simultaneous Quantification of Antiepileptic Drugs Using Liquid Chromatography–Tandem Mass Spectrometry

Rapid Communications in Mass Spectrometry, Volume 39, Issue 16, 30 August 2025.
ABSTRACT Rationale Dried blood spot (DBS) sampling for the therapeutic drug monitoring of antiepileptic drugs offers practical advantages, including minimal invasiveness and ease of collection. However, for precise therapeutic management, its accuracy and reliability in quantification need to be validated.
Mariam M. Abady, Ji‐Seon Jeong, Ha‐Jeong Kwon   +2 more
wiley   +1 more source

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis

Frontiers in Nutrition
IntroductionPhenylketonuria (PKU) is an autosomal recessive metabolic disorder resulting from phenylalanine hydroxylase deficiency, which impacts neurodevelopment.
Alex S. Aguirre, Edison Haro, Alberto Campodónico, Alissa Mendoza, Bernarda Bahamonde, Vanessa I. Romero   +5 more
doaj   +1 more source

N‐Lactoyl Amino Acids: Emerging Biomarkers in Metabolism and Disease

Diabetes/Metabolism Research and Reviews, Volume 41, Issue 5, July 2025.
ABSTRACT N‐lactoyl amino acids (Lac‐AA) form an emerging class of metabolites that have gained significant attention in recent years due to their ubiquitous presence in different biological systems and potential roles in various biochemical processes. This narrative review aims to provide a comprehensive overview of the current understanding of Lac‐AA,
Khaled Naja, Laila Hedaya, Asma A. Elashi, Manfredi Rizzo, Mohamed A. Elrayess   +4 more
wiley   +1 more source

Developmental Disturbances in Animal Models of Autism Spectrum Disorder

Developmental Neurobiology, Volume 85, Issue 3, July 2025.
ABSTRACT Although the early signs of autism spectrum disorder (ASD) are widely studied, the significant ambiguity and heterogeneity in symptoms require the comparison of available models, approaches, and the search for common denominators and key indicators.
Kristof Laszlo, Zuzana Bacova, Dora Zelena, Jan Bakos   +3 more
wiley   +1 more source

Enhancing Functional Protein Design Using Heuristic Optimization and Deep Learning for Anti‐Inflammatory and Gene Therapy Applications

Proteins: Structure, Function, and Bioinformatics, Volume 93, Issue 7, Page 1238-1256, July 2025.
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat, Özkan Ufuk Nalbantoğlu   +1 more
wiley   +1 more source

Electric therapy is used to reduce pain in a mother giving birth

Jurnal Ners dan Kebidanan Indonesia
Background:Pain during labor is a physiological response but can result in an increase in catecholamines which result in disrupting uterine contractions which can cause uterine inertia, prolonged labor, inadequate oxygenation to the fetus and fetal ...
Nur Hidayah, Ipin Prasodjo, Puji Sri Lestari   +2 more
doaj   +1 more source

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Molecular Genetics and Metabolism Reports, 2016
Background: Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase.
Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz   +7 more
doaj   +1 more source

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source