Results 51 to 60 of about 673,439 (269)

TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis

Clinical Epigenetics, 2019
Background Neural tube defects (NTDs) are complex abnormalities associated with gene-environment interactions. The underlying cause has not been determined. Methods Spinal cord tissues from cases with NTDs and healthy controls were collected. Methylation
Henan Zhang, Yi Guo, Hui Gu, Xiaowei Wei, Wei Ma, Dan Liu, Kun Yu, Wenting Luo, Ling Ma, Yusi Liu, Jia Xue, Jieting Huang, Yanfu Wang, Shanshan Jia, Naixuan Dong, Hongyan Wang, Zhengwei Yuan   +16 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns, Samuel D. Searle, Alexandra Legge   +2 more
wiley   +1 more source

Surgical Ventricular Septal Defect Repair

JACC: Case Reports
Ventricular septal defects (VSDs), the most common of congenital heart defects, vary widely in anatomy and size. Surgical treatment of very large VSDs can be challenging because no clear recommendations exist about which defects can undergo biventricular
Emmanuelle Fournier, MD, Bastien Provost, MD, Alice Dirickx, MD, Estibaliz Valdeolmillos, MD, Gregoire Albenque, MD, Clément Batteux, MD, Viktoria Weixler, MD, PhD, Sébastien Hascöet, MD, PhD, Emre Belli, MD, PhD   +8 more
doaj   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Development and Validation of the CHDSI Questionnaire: A New Tool for Measuring Disease-Specific Quality of Life in Children and Adolescents with Congenital Heart Defects

Medicina
Background and Objectives: Congenital heart defects (CHD) affect around 1% of the population, making them the most common congenital disease worldwide. Thanks to advances in treatment, over 90% of affected children are able to reach adulthood, shifting ...
Paul C. Helm, Ulrike M. M. Bauer, Peter Ewert, Julia Remmele   +3 more
doaj   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

Advanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source

Coronavirus disease 2019 in patients with Fontan circulation

International Journal of Cardiology Congenital Heart Disease, 2021
Flavia Fusco, Giancarlo Scognamiglio, Assunta Merola, Michela Palma, Anna Correra, Nunzia Borrelli, Rosaria Barracano, Nicola Grimaldi, Diego Colonna, Emanuele Romeo, Berardo Sarubbi   +10 more
doaj   +1 more source

Off-label use of implantable devices and stents in congenital heart disease patient’s interventional procedures. a single center experience

BMC Cardiovascular Disorders
Background There have been great advances in the field of congenital heart disease (CHD) catheter intervention. Diseases that were previously considered only with surgical treatment options are now treated percutaneously with high success rates. However,
Amira Nour, Maiy El sayed, Azza Elfiky, Hebattallah Attia, Alaa Roshdy, Yasmeen Abdelrazik, Amr Mansour   +6 more
doaj   +1 more source