Results 191 to 200 of about 441,593 (257)

Real‐world characteristics and treatment of cardiac transthyretin amyloidosis: A multicentre, observational study

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1203-1216, April 2025.
The 366 patients diagnosed with transthyretin amyloidosis cardiomyopathy (ATTR‐CM) were analyzed regarding their clinical characteristics in the first year after approval of tafamidis 61 mg for ATTR‐CM in Germany. Nearly two‐thirds of the patients were in an advanced disease stage and 64% met the key criteria of the “Transthyretin Amyloidosis ...
Richard J. Nies   +23 more
wiley   +1 more source

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger   +8 more
wiley   +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx   +192 more
wiley   +1 more source

Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza   +1 more
wiley   +1 more source

Quantitative Assessment of Postoperative Lumbar Morphology Using Geometric Morphometrics: Within-Subject Changes Following TLIF and Decompression. [PDF]

open access: yesDiagnostics (Basel)
Benady A   +9 more
europepmc   +1 more source

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