Results 181 to 190 of about 175,922 (341)
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Clinical Genetics, EarlyView.Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan +6 more
wiley +1 more source
A TEMPERATURE CONTROLLED CABINET OPERATING TABLE FOR SAFE HYPOTHERMIA
, 1957 D M Vermeulen-Cranch, J Spierdijk
openalex +1 more source
The risk of epilepsy after neonatal seizures
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16288 Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 and 2018.
Jeanette Tinggaard +6 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Patients with uncontrolled epilepsy are at high risk for sudden unexpected death in epilepsy (SUDEP), which likely results from a pathological, seizure‐induced disruption of vital physiological systems. The objective of this study was to characterize seizure‐induced physiological dysfunction leading to death in SSKcnj16−/− rats and ...
Melissa Eilbes +5 more
wiley +1 more source
Status epilepticus in older adults: A critical review
Epilepsia, EarlyView.Abstract Older adults (≥60 years of age) have the highest incidence of status epilepticus (SE) among adults and experience the highest morbidity and mortality. SE incidence increases with age in adulthood. A recent study from Austria estimated an incidence of 89.6/100 000 and 67.6/100 000 person‐years adjusted for age and sex in women and men aged >60 ...
Matthew R. Woodward +5 more
wiley +1 more source
Bilateral nontraumatic subcapsular renal haematoma (Wunderlich syndrome) in a Thoroughbred broodmare
Equine Veterinary Education, EarlyView.Summary This case report describes a Thoroughbred broodmare referred for colic and pyrexia. The mare had a history of repeated urinary tract infections, placentitis, abortion and endotoxaemia. A diagnosis of bilateral subcapsular renal haematoma was made by ultrasonography and standing laparoscopy and confirmed on post‐mortem.
M. Hannan +9 more
wiley +1 more source
Inhibition of Ferroptosis Attenuates Neuron Damage and Improves Cognitive Impairment in Mice Surviving Severe Hypothermia. [PDF]
Int J Mol SciLi WX +7 more
europepmc +1 more source