Results 81 to 90 of about 12,609 (254)
Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?
Prenatal Diagnosis, Volume 46, Issue 1, Page 30-38, January 2026.ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries +7 more
wiley +1 more source
Cost-Based Price Calculation of Mexiletine for Nondystrophic Myotonia.
Value in Health, 2021 Sibren van den Berg +7 more
semanticscholar +1 more source
The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World
Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley +1 more source
Basic &Clinical Pharmacology &Toxicology, Volume 138, Issue 1, January 2026.ABSTRACT Modafinil is approved for excessive daytime sleepiness in narcolepsy, obstructive sleep apnoea (OSA), and shift work sleep disorder (SWSD), but its widespread off‐label use raises safety concerns. We evaluated the risk of adverse events (AEs) associated with both labelled and off‐label use of modafinil.
Jaehee Jung +5 more
wiley +1 more source
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 more
wiley +1 more source
Management of isolated abnormal amniotic fluid volume in pregnancy
The Obstetrician &Gynaecologist, Volume 28, Issue 1, Page 41-50, January 2026.Key content Amniotic fluid volume (AFV) is a vital measurement in the determination of fetal well‐being by means of ultrasound. There are many factors that determine AFV and, in many cases, complications affecting the fetus may manifest through change in its value.
Abigail O. Falola +3 more
wiley +1 more source
Multisystem Features in Adult-Onset Myotonic Dystrophy Type 1: An Integrative Case Analysis [PDF]
Balneo and PRM Research JournalMyotonic dystrophy type 1 (DM1), or Steinert disease, is the most common adult-onset muscu-lar dystrophy, characterized by multisystem involvement affecting neuromuscular, cardiac, endocrine, respiratory, and cognitive domains.
Lilia Böckels +9 more
doaj +1 more source
EBioMedicine, 2015 Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1ΔE3/ΔE3/Mbnl3ΔE2 mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the number of muscle fibers with very ...
Jongkyu Choi +10 more
doaj +1 more source
Myotonia congenita: novel mutations in CLCN1 gene
Channels, 2015 Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1.
Xiao-li Liu +9 more
semanticscholar +1 more source