Results 121 to 130 of about 81,293 (260)
International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet +47 more
wiley +1 more source
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
How Can We Move Clinical Genomics Beyond the Hype? [PDF]
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core
Reusing organic waste materials, such as animal manure, as soil amendments reduces water and fertiliser demand, contributing to achieving the Sustainable Development Goals. However, organic wastes may contain contaminants of emerging concern (CECs), posing potential ecosystem and human health risks. Despite the importance of this issue, there is a lack
Felicity C. T. Elder +7 more
wiley +1 more source
Contaminants of emerging concern (CECs) in agriculture represent a growing global challenge for food safety and public health. In this review, we synthesized evidence on how substances such as pharmaceuticals, microplastics, and per‐ and polyfluoroalkyl substances (PFAS) enter soils, accumulate in crops, and affect ecological and human health. We found
Laura J. Carter +8 more
wiley +1 more source
Side effects of phenobarbital and carbamazepine in childhood epilepsy: randomised controlled trial [PDF]
Objective: To compare the behavioural side effects associated with two commonly used antiepilepsy drugs--phenobarbital and carbamazepine--in children in Bangladesh. Design: Prospective randomised controlled single centre trial.
Banu, S.H. +5 more
core
Abstract Topiramate (TPM) is a broad‐spectrum antiepileptic drug (AED) commonly prescribed for approved and off‐label uses. Routine monitoring is suggested for clinical usage of TPM in special population due to its broad side effect profile. Therefore, it is crucial to further explore its pharmacokinetic characteristics.
Shuqing Chen +6 more
wiley +1 more source
Schematic overview of the proposed neuromodulatory actions of linalool in Alzheimer's disease. Through multi‐target effects on oxidative stress, amyloid aggregation, GABAergic and glutamatergic signaling, linalool may restore excitatory/inhibitory balance.
Ilaria Piccialli +4 more
wiley +1 more source
NEW METHODS OF OPTIMIZATION OF EPILEPSY PHARMACOTHERAPY: USE OF BAYESIAN PHARMACOKINETIC MODELING
There was carried out the therapeutic drug monitoring of antiepileptic drug carbamazepine by use of a bayesian mathematical modeling method in 47 patients with a focal epilepsy.
Z. А. Suslina +8 more
doaj
Abstract Purpose To identify associations between systemic drugs and cataract surgery in Finland. Methods A historic cohort study based on administrative data. Endpoint event was cataract surgery. Use of drugs in question was based on redeemed prescriptions and consisted of 156 drugs.
Antti Riikonen +3 more
wiley +1 more source

