Results 211 to 220 of about 58,343 (309)

Causal Association Between Lifestyle Behavior and Potential Risk Factors With Blepharoptosis

Eye &ENT Research, EarlyView.
ABSTRACT Background Blepharoptosis is among the most common disorders of eyelid malposition that may influence appearance and damage visual function, and both of these can have negative effects on the quality of life. Various types of blepharoptosis have been reported, including neurogenic, traumatic, congenital, mechanical, psychogenic, and myogenic ...
Shiqi Hui, Zhijia Hou, Dong‐mei Li
wiley   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Prevalence of chromosomal abnormalities and polymorphisms in 4,672 infertile patients undergoing assisted reproductive techniques in the United Arab Emirates population. [PDF]

Front Reprod Health
Upadhyay D, Varghese MM, Anandt S, Albuz F, Almekosh R, Peramo B.   +5 more
europepmc   +1 more source

Biomarkers of lung congestion and injury in acute heart failure

ESC Heart Failure, Volume 12, Issue 2, Page 781-789, April 2025.
Abstract Acute heart failure (AHF) classification and management are primarily based on lung congestion and/or hypoperfusion. The quantification of the vascular and tissue lung damage is not standard practice though biomarkers of lung injury may play a relevant role in this context.
Marco Guazzi, Gabriele Novello, Francesca Bursi, Anna Caretti, Noemi Furlotti, Ross Arena, Paola Argiento, Julio Núñez, Antoni Bayes‐Genis, Marco Metra   +9 more
wiley   +1 more source

Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction. [PDF]

Front Med (Lausanne)
Chen Y, Wang M, Cai X, Wu X, Zeng J, Zhou L.   +5 more
europepmc   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq. [PDF]

BMC Pregnancy Childbirth
Huang S, Huang T, Liu D, Yuan H, Zhou Y, Zeng B, Bai G.   +6 more
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

High-risk HPV E6 induces an aneuploidy-prone chromosome congression defect through destabilization of CENP-E. [PDF]

J Virol
Seshimo N, Hori K, Furuta R, Hirota T, Nozawa R-S.   +4 more
europepmc   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source