Results 81 to 90 of about 15,795 (219)

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

open access: yesPrenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau   +10 more
wiley   +1 more source

Mitochondrial Ca2+ overload is a pivotal risk factor for lethal ventricular arrhythmias due to the oxidation of mitochondrial respirasome and energetic failure

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 7, Page 1404-1426, April 2026.
The data that support the findings of this study are available from the corresponding author upon reasonable request. Some data may not be made available because of privacy or ethical restrictions. Background and Purpose Ventricular arrhythmias are a leading cause of death among patients with cardiovascular diseases and are associated with elevated ...
Felipe de Jesús Salazar‐Ramírez   +13 more
wiley   +1 more source

EPIDEMIOLOGIA, CLINICA Y EVOLUCION TERAPEUTICA USANDO VERAPAMILO EN PACIENTES CON TAQUIARRITMIAS SUPRAVENTICULARES AGUDAS Epidemiology, clinic and therapeutic evolution using verapamilo in patients with acute supraventriular tachyarrhythmia

open access: yesRevista Habanera de Ciencias Médicas, 2009
Se realizó una investigación definiendo: epidemiología, clínica y evolución final en pacientes con Taquiarritmia Supraventriculares (TSV) usando verapamilo en la Unidad Cuidados Emergentes del Hospital Iván Portuondo, San Antonio de los Baños, Habana ...
Ernesto Canciano Chirino   +2 more
doaj  

Sudden cardiac death among general population and sport related population in forensic experience. [PDF]

open access: yes, 2015
PURPOSE: The goal of the study was to assess the causes and analyze the cases of sudden cardiac death (SCD) victims referred to the department of forensic medicine in Lausanne, with a particular focus on sports-related fatalities including also leisure ...
Bhuiyan, Z.A.   +5 more
core   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

open access: yesClinical Genetics, Volume 109, Issue 4, Page 679-696, April 2026.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart   +17 more
wiley   +1 more source

Cardiopatía valvular en un paciente con granulomatosis de Wegener Valvular cardiopathy in a patient with Wegener's granulomatosis

open access: yesRevista Colombiana de Cardiología, 2012
La granulomatosis de Wegener es una vasculitis necrotizante autoinmune cuya prevalencia reportada es de 3/100.000 habitantes. Tiene compromiso multisistémico, principalmente el tracto respiratorio superior e inferior, y el sistema nervioso central y ...
Luis E Silva   +3 more
doaj  

Incidence of viral respiratory infections in a prospective cohort of outpatient and hospitalized children aged ≤5 years and its associated cost in Buenos Aires, Argentina [PDF]

open access: yes, 2015
Background: Although information about the incidence of viral respiratory illnesses and their associated cost can help health officials explore the value of interventions, data are limited from middle-income countries.
Azziz Baumgartner, Eduardo   +6 more
core   +1 more source

Effectiveness and tolerability of galcanezumab for migraine prevention in patients ≥65 years: A real‐life multicenter study

open access: yesHeadache: The Journal of Head and Face Pain, Volume 66, Issue 4, Page 939-949, April 2026.
Plain Language Summary This study shows that galcanezumab is equally effective and well‐tolerated in patients aged 65 and older as in younger patients, with a higher proportion of excellent responders in older patients. Despite having more baseline headache days, older patients responded well to the treatment, with age being linked to better outcomes ...
Julia Peris‐Subiza   +27 more
wiley   +1 more source

Targeting C/EBPβ to Suppress Myocardial Fibrosis in Hypertensive Heart Disease: Role of the ACE2/Ang‐(1–7) Pathway

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Hypertensive heart disease is characterised by ventricular remodelling and interstitial fibrosis, in which dysregulation of the renin–angiotensin system (RAS) plays a pivotal role. This study investigated whether the transcription factor CCAAT/enhancer‐binding protein β (C/EBPβ) attenuates hypertensive myocardial fibrosis and remodelling by ...
Yuanyuan Tie   +7 more
wiley   +1 more source

Liver transplantation for type IV glycogen storage disease [PDF]

open access: yes, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis   +17 more
core   +1 more source

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