Results 51 to 60 of about 7,613 (182)

The Epidemiology of Aortic Aneurysms: Global and Regional Trends Between 1990 and 2021

open access: yesMedicine Advances, EarlyView.
This study presents the first comprehensive global analysis of the burden and inequality of aortic aneurysm (AA) using GBD 2021 data across 204 countries and territories. While the overall global burden of AA has declined over the past three decades, our findings reveal a concerning rise in AA‐related mortality and disability‐adjusted life years (DALYs)
Jiarui Zhang   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

open access: yesPediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Ruthenium Complexes in Protein Science: Heading a New Generation of Therapeutic and Analytical Tools

open access: yesAngewandte Chemie, Volume 138, Issue 4, 22 January 2026.
This review presents the latest advances in the development of ruthenium complexes within the field of protein science, highlighting their potential applications in biomedical and bioanalytical fields. Abstract Ruthenium complexes are distinguished by their versatile coordination chemistry, redox behaviors and photochemical properties. In recent years,
Liyan Zhang, Yun Chen, Sylvestre Bonnet
wiley   +2 more sources

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

open access: yesIranian Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi   +3 more
doaj  

Silencing of juvenile hormone‐related genes through RNA interference leads to molt failure and high mortality in the spongy moth

open access: yesInsect Science, EarlyView.
The feasibility of using RNA interference to control the globally important quarantine pest, the spongy moth. Targeting genes related to JHs play an important role in the growth and development of insects. First, the open reading frames (ORFs) of Ldjhamt and Ldjheh were identified and characterized, and the target genes were cloned and double‐stranded ...
Wenzhuai Ji   +3 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg   +9 more
wiley   +1 more source

Evolution of the screening program for congenital hypothyroidism and phenylketonuria in Sergipe State from 1995 to 2003 [PDF]

open access: yes, 2004
Avaliamos o tempo gasto nas diferentes etapas do Programa de Triagem para o Hipotireoidismo Congênito (HC) e Fenilcetonúria (PKU), sua cobertura e a freqüência em Sergipe, de 1998 a 2003, e comparamos com 1995.
Oliveira, Carla Raquel Pereira   +3 more
core   +1 more source

Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates

open access: yesThe FEBS Journal, EarlyView.
In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi   +6 more
wiley   +1 more source

Estimating Correlations Between Clinical Trial Outcomes Using Generalised Estimating Equations

open access: yesOxford Bulletin of Economics and Statistics, EarlyView.
ABSTRACT Accurately estimating the correlations among clinical trial outcomes is crucial for managing the risk of biopharmaceutical investment portfolios. We propose a novel algorithm for estimating correlations in large clinical trial datasets using a generalised estimating equations (GEE) framework.
Yuehao Dai   +4 more
wiley   +1 more source

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