Results 41 to 50 of about 3,097,210 (306)

Sudden Death in Patients With Severe Aortic Stenosis: Observations From the CURRENT AS Registry

open access: yesJournal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2018
Background The annual incidence of sudden death has been reported to be low (
T. Taniguchi   +16 more
semanticscholar   +1 more source

Exploring Preferences for a Digital Single‐Session Intervention for Adolescent Siblings of Youth With Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Adolescent siblings of children with cancer are at elevated risk for psychosocial problems. Unfortunately, various barriers such as limited family time and resources, conflicting schedules, and psychosocial staffing constraints at cancer centers hinder sibling access to support.
Christina M. Amaro   +10 more
wiley   +1 more source

Reappraisal of Reported Genes for Sudden Arrhythmic Death

open access: yesCirculation, 2018
Background: Implicit in the genetic evaluation of patients with suspected genetic diseases is the assumption that the genes evaluated are causative for the disease based on robust scientific and statistical evidence.
S. M. Hosseini   +18 more
semanticscholar   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon   +9 more
wiley   +1 more source

Sudden cardiac death: an update

open access: yesInternal medicine journal (Print), 2019
Sudden cardiac death (SCD) is a devastating and all too common result of both acquired and genetic heart diseases. The profound sadness endured by families is compounded by the risk many of these deaths confer upon surviving relatives.
J. Isbister, C. Semsarian
semanticscholar   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Age at onset and clinical course of RBM20-mediated cardiomyopathy

open access: yesScientific Reports
Disease-causative variants in RBM20-encoded RNA-binding motif protein 20 cause a severe arrhythmogenic dilated cardiomyopathy (DCM). We aimed to characterize the clinical course of RBM20-mediated DCM in comparison to other familial and non-familial forms
Ramin Garmany   +7 more
doaj   +1 more source

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji   +13 more
wiley   +1 more source

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

open access: yesBMC Cardiovascular Disorders
Background Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment.
Sarah Martin   +4 more
doaj   +1 more source

Serotonin and sudden unexpected death in epilepsy.

open access: yesExperimental Neurology, 2019
Epilepsy is a highly prevalent disease characterized by recurrent, spontaneous seizures. Approximately one-third of epilepsy patients will not achieve seizure freedom with medical management and become refractory to conventional treatments.
A. Petrucci   +3 more
semanticscholar   +1 more source

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