Results 51 to 60 of about 30,022 (221)

Neonatal Marfan Syndrome [PDF]

American Journal of Perinatology, 2019
Abstract Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement. Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of ...
Tognato E., Perona A., Aronica A., Bertola A., Cimminelli L., De Vecchi S., Eshraghy M. R., Loperfido B., Vivenza C., Manzoni P.   +9 more
openaire   +3 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

A large French family with TGFBR2 pathogenic variant: illustration of variability

Orphanet Journal of Rare Diseases
Aims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou, Olivier Milleron, Skerdi Haviari, Florence Arnoult, Nadine Hanna, Pauline Arnaud, Fadima Toure, Sabrine Jadoui, Arienne Mirmiran, Catherine Boileau, Guillaume Jondeau   +10 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life

Orphanet Journal of Rare Diseases
Background Children and adolescents with Marfan (MFS) and Loeys-Dietz (LDS) syndromes report chronic fatigue and reduced physical endurance, which significantly impact their health-related quality of life (HRQoL). We hypothesized that a tailored physical
Thomas Edouard, Fernanda Bajanca, Clara Flumian, Fabrice Marion-Latard, Clément Pradayrol, Aitor Guitarte, Maud Langeois, Philippe Khau Van Kien, Armelle Yart, Françoise Auriol, Eric Garrigue, Yves Dulac   +11 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, Juan M. Bowen, Heidi M. Connolly   +2 more
doaj   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

Single‐Cell Profiling Identifies CLEC5A+ Macrophages as Key Drivers of Thoracic Aortic Aneurysm Via CCL5‐Mediated M1 Polarization

Journal of Clinical Laboratory Analysis, EarlyView.
Thoracic aortic aneurysm (TAA) is a life‐threatening cardiovascular disease with limited therapeutic options. Through single‐cell RNA sequencing of aortic tissues from healthy individuals and TAA patients (105,541 cells), we identified CLEC5A+macrophages as the predominant pathogenic cell population exhibiting the highest M1 polarization score. Machine
Xiangyu Li, Chunguang Guo, Mingyao Luo, Chang Shu   +3 more
wiley   +1 more source

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Orphanet Journal of Rare Diseases
Background 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, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro   +10 more
doaj   +1 more source

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source