Results 41 to 50 of about 15,755 (254)
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Investigational Management for a Positive NIPT Result - Case Report [PDF]
Modern MedicineNon-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries.
Elena Evelina STOICA +3 more
doaj +1 more source
Multifunctional Flexible Thermoelectric Fabric for Smart Wearables
Carbon Energy, EarlyView.This study designs a multifunctional rGO/PEDOT:PSS fabric integrating thermoelectric generation, signal sensing, and EMI shielding. It enables motion detection, respiratory monitoring, and fetal movement tracking. The fabric emphasizes flexibility, durability, comfort, and safety, making it suitable for wearable healthcare applications and advancing ...
Jia Wu +10 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca +10 more
wiley +1 more source
Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing
Scientific Reports, 2017 Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA,
L. F. Johansson +11 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova +15 more
wiley +1 more source
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods
Prenatal Diagnosis, 2021 AbstractObjectiveNon‐Invasive Prenatal Testing (NIPT) is increasingly being implemented worldwide. In public health programs, equitable access to healthcare is a fundamental principle which also applies to fetal aneuploidy screening. However, the out‐of‐pocket costs of NIPT may lead to sociodemographic disparities in uptake of screening.
Karuna R. M. van der Meij +4 more
openaire +5 more sources
Epilepsia Open, EarlyView.Abstract Objective Focal cortical dysplasia type 1 (FCD1) is a rare and heterogeneous cause of drug‐resistant epilepsy (DRE) in children. Its clinical characteristics remain poorly understood, and surgical outcomes may be less favorable than in FCD2. We conducted a population‐based study to characterize the clinical presentation and long‐term seizure ...
Vincent Zheng +9 more
wiley +1 more source