Results 121 to 130 of about 9,259 (270)

Index cases of intracranial aneurysms in autosomal dominant polycystic kidney disease: longitudinal experience from a single renal transplantation centre

open access: yesANZ Journal of Surgery, EarlyView.
Abstract Background The prevalence of intracranial aneurysms (ICAs) is higher in patients with autosomal dominant polycystic kidney disease (ADPKD) than in the general population. This extrarenal manifestation carries significant mortality and morbidity risks.
Joel Ern Zher Chan   +3 more
wiley   +1 more source

A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development [PDF]

open access: yes, 2015
CHARGE syndrome is caused by spontaneous loss-of-function mutations to the ATP-dependant chromatin remodeller chromodomain-helicase-DNA-binding protein 7 (CHD7).
Anderson, RH   +6 more
core   +1 more source

Alcohol septal ablation for hypertrophic obstructive cardiomyopathy

open access: yesHeart - Lung (Varna), 2013
Хипертрофичната обструктивна кардиомиопатия (ХОКМП) се характеризира с асиметрична септална хипертрофия, систоличното антериорно движение (SAM) при ехокардиография и градиент в изходния тракт на лявата камера (LVOT).
J. Sitar   +4 more
openaire   +3 more sources

Stabilisation of PRCP by deubiquitinase‐targeting chimera (DUBTAC) to replenish autophagy for ameliorating pathological cardiac hypertrophy

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose Autophagy is essential for cellular homeostasis, and its impairment contributes to cardiac hypertrophy. Modulating autophagy has shown potential in treating pathological hypertrophy. Prolylcarboxypeptidase (PRCP), a lysosomal enzyme that hydrolyzes angiotensin II to Ang1‐7, has an unclear role in cardiac autophagy and hypertrophy.
Fangchao Zhou   +16 more
wiley   +1 more source

Fully Percutaneous Treatment of LVOT Obstruction and Mitral Regurgitation in a Patient With History of Acromegaly

open access: yesJACC: Case Reports
Background: We report a 79-year-old woman with congestive heart failure. The patient had a history of acromegaly due to a pituitary macroadenoma. Case Summary: Echocardiography revealed severe mitral regurgitation due to flail of the posterior leaflet ...
Lucca Loretz, MD   +9 more
doaj  

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón   +33 more
wiley   +1 more source

Procedural Volume and Outcomes After Septal Reduction Therapies in Hypertrophic Obstructive Cardiomyopathy

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Septal myectomy and alcohol septal ablation (ASA) are septal reduction therapies for patients with symptomatic obstructive hypertrophic cardiomyopathy.
Nirav Patel   +10 more
doaj   +1 more source

Prospective neuroimaging and neuropsychological evaluation in adults with newly diagnosed focal epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Few prospective studies exist on newly diagnosed focal epilepsy (NDFE), a critical period for understanding epilepsy's biology and identifying biomarkers and potential interventions. We report a prospective cohort study in patients with NDFE and age‐, sex‐, and education‐matched healthy controls.
Christophe E. de Bezenac   +12 more
wiley   +1 more source

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses

open access: yesThe FEBS Journal, EarlyView.
Gle1 knockout mice fail to segregate cell lineages at the blastocyst stage, resulting in very early embryonic lethality. Gle1 knock‐in (KI) mice harboring a pathogenic variant giving rise to lethal congenital contracture syndrome 1 show both known and novel innervation defects, supportive of multiorgan pathology in human fetuses.
Tomáš Zárybnický   +22 more
wiley   +1 more source

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