Results 191 to 200 of about 1,128,531 (391)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

Evaluation of factors associated with selection for coronary angiography and in‐hospital mortality among patients presenting with out‐of‐hospital cardiac arrest without ST‐segment elevation

open access: yesCatheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1159-1170, December 1, 2022., 2022
Abstract Background Clinical factors favouring coronary angiography (CA) selection and variables associated with in‐hospital mortality among patients presenting with out‐of‐hospital cardiac arrest (OHCA) without ST‐segment elevation (STE) remain unclear.
Wayne C. Zheng   +15 more
wiley   +1 more source

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis   +16 more
wiley   +1 more source

Cognitive function in late‐stage HFpEF patients with tricuspid regurgitation undergoing transcatheter tricuspid valve intervention

open access: yesCatheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1323-1330, December 1, 2022., 2022
Abstract Objectives This study evaluates the impact of transcatheter tricuspid valve interventions (TTVI) on cognitive function (CF), quality of life (QOL), and exercise capacity in late‐stage heart failure with preserved ejection fraction (HFpEF) and relevant tricuspid regurgitation (TR).
Muhammed Gerçek   +7 more
wiley   +1 more source

Novel Approaches in Chronic Renal Failure without Renal Replacement Therapy: A Review. [PDF]

open access: yesBiomedicines, 2023
Martínez-Hernández SL   +4 more
europepmc   +1 more source

Decreased sebum excretion in chronic renal failure. [PDF]

open access: bronze, 1976
Sam Shuster   +5 more
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Transcatheter valve repair of tricuspid regurgitation with the PASCAL system: TriCLASP study 30‐day results

open access: yesCatheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1291-1299, December 1, 2022., 2022
Abstract Background Severe tricuspid regurgitation (TR) is independently associated with increased morbidity and mortality. Percutaneous transcatheter approaches may offer an alternative for patients not amenable to surgery. Methods TriCLASP is a prospective, single‐arm, multicenter European post‐market clinical follow‐up study (NCT04614402) to ...
Stephan Baldus   +18 more
wiley   +1 more source

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