Results 31 to 40 of about 20,352 (198)
Artery Research, 2015 Introduction: Patients with Marfan syndrome may suffer from a variety of symptoms, including changes of the cardiovascular system. The aim of this study was to perform ambulatory 24 hour blood pressure and pulse wave measurements in a group of Marfan ...
Bernhard Hametner* +8 more
doaj +1 more source
Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome?
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022 Background Stiffer aortas are associated with a faster rate of aortic root (AoR) dilation and higher risk of aortic dissection in patients with Marfan syndrome.
Elif Seda Selamet Tierney +9 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini +4 more
doaj +1 more source
Case Reports in GeneticsNonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo +7 more
doaj +1 more source
Facial and Ocular Features of Marfan Syndrome
Diseases, 2014 Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and ...
Juan C. Leoni +2 more
doaj +1 more source
Robust Syndrome Extraction via BCH Encoding [PDF]
arXiv, 2023 Quantum data-syndrome (QDS) codes are a class of quantum error-correcting codes that protect against errors both on the data qubits and on the syndrome itself via redundant measurement of stabilizer group elements. One way to define a QDS code is to choose a syndrome measurement code, a classical block code that encodes the syndrome of the underlying ...
arxiv
Orphanet Journal of Rare DiseasesBackground This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL ...
Thomas Edouard +10 more
doaj +1 more source
American 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
Growth Charts for Children With Beckwith–Wiedemann Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt +4 more
wiley +1 more source