Results 121 to 130 of about 81,293 (260)

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

open access: yesMovement Disorders, EarlyView.
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

open access: yesMovement Disorders, EarlyView.
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]

open access: yes, 2011
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  

An integrated social and natural sciences case study for the reuse of organic wastes as soil amendments

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
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 in agricultural soils: Current understanding, overlooked issues, and future priorities

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
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]

open access: yes, 2007
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  

Physiologically based pharmacokinetic modeling and simulation of topiramate in populations with renal and hepatic impairment and considerations for drug–drug interactions

open access: yesCPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 3, Page 510-522, March 2025.
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

Exploring Linalool‐Based Phytotherapy for Excitatory/Inhibitory Imbalance in Alzheimer's Disease: A Review of Lavender and Cannabis Therapeutic Effects on Sleep, Seizures, and Cognition

open access: yesPhytotherapy Research, EarlyView.
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

open access: yesЭпилепсия и пароксизмальные состояния, 2016
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  

Systemic medications associate with surgically treated cataract among adults over 50 years in Finland

open access: yesActa Ophthalmologica, EarlyView.
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

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