Results 71 to 80 of about 43,046 (342)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study

open access: yesBalkan Medical Journal, 2019
Aims: Fabry disease is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Cardiac involvement is present in over 60% of adult cases of Fabry disease.
Hasan Ali Barman   +7 more
doaj   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

Hypertrophic obstructive cardiomyopathy complicated with acute myocardial infarction and diffuse fibrosis: surgery or not?

open access: yesBMC Cardiovascular Disorders, 2022
Background Hypertrophic cardiomyopathy with extreme hypertrophy, biventricular obstruction and diffuse myocardial fibrosis complicated by myocardial infarction in the absence of obstructive coronary artery disease (MINOCA) is a rare phenotype.
Yunhong Wang   +7 more
doaj   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Isolated non-obstructive accessory mitral valve tissue in an adult mimicking ruptured chordae

open access: yesIndian Heart Journal, 2013
Accessory mitral valve tissue is commonly associated with other congenital heart diseases and is usually detected in children causing left ventricular outflow tract obstruction.
Prashanth Panduranga   +1 more
doaj   +1 more source

Modified Nikaidoh procedure for the correction of complex forms of transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: mid-term results [PDF]

open access: yes, 2017
OBJECTIVES Different surgical techniques for the treatment of complex transposition of the great arteries (TGA) with ventricular septal defect and left ventricular outflow tract obstruction (LVOTO) have been developed, in particular the Rastelli ...
Berger, Felix   +4 more
core  

Pediatric Cardiac Interventions [PDF]

open access: yes, 2008
The field of pediatric cardiac interventions has witnessed a dramatic increase in the number and type of procedures performed. We review the most common procedures performed in the catheter laboratory. Lesions are divided according to their physiological
Awad, Sawsan M., Hijazi, Ziyad M.
core   +1 more source

Noradrenergic and cholinergic innervation of the normal human heart and changes associated with cardiomyopathy

open access: yesThe Anatomical Record, EarlyView.
Abstract Autonomic nerves are crucial in cardiac function and pathology. However, data on the distribution of cholinergic and noradrenergic nerves in normal and pathologic human hearts is lacking. Nonfailing donor hearts were pressure‐perfusion fixed, imaged, and dissected. Left ventricular cardiomyopathy samples were also obtained.
Peter Hanna   +15 more
wiley   +1 more source

Progressive Hypertension and Severe Left Ventricular Outflow Tract Obstruction [PDF]

open access: yesHypertension, 2019
No abstract available.
Cameron, Alan C.   +10 more
openaire   +3 more sources

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