Results 71 to 80 of about 19,820 (226)
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Marfan syndrome – typical musculoskeletal abnormalities, rare occurrence in children
, 2014 Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. It is caused by a mutation in the fibrillin-1 (FBN1) gene located on chromosome 15 as a result of activation of transforming growth factor .
Zbigniew Żuber +3 more
core +1 more source
PM&R, EarlyView.Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager +4 more
wiley +1 more source
, 2008 OBJECTIVE: Marfan syndrome is a systemic connective tissue disorder caused by mutations in the fibrillin-1 gene. It was originally believed that Marfan syndrome results exclusively from the production of abnormal fibrillin-1 that leads to structurally ...
Dietz, Harry C +8 more
core +1 more source
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]
PLoS ONE, 2011 Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients.
Gao Guo +6 more
doaj +1 more source
Short‐Term Complications Are Rare After Cholesteatoma Surgery
Clinical Otolaryngology, EarlyView.ABSTRACT Objective To evaluate the incidence and nature of short‐term complications following cholesteatoma surgery in a heterogeneous cohort. Design A retrospective cohort study including complete coverage of cholesteatoma surgery in a Swedish region between 1 January 2005 and 31 December 2015.
Agnes Modée Borgström +3 more
wiley +1 more source
Marfan syndrome masked by Down syndrome?
, 2009 Contains fulltext : 79872.pdf (Publisher’s version ) (Closed access)Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare.
Engelen, K. van +9 more
core +1 more source
Degradomics for large‐scale mechanistic insights on proteases and proteolysis in human health
The FEBS Journal, EarlyView.Proteolysis has an important role in human disease but remains relatively unexplored. Degradomics, the uncovering of proteolysis in tissues, cells, and proteins, uses mass spectrometry‐based terminomics to identify protein termini occurring therein (forward degradomics) and to define the actions of proteases (reverse degradomics).
Daniel R. Martin +2 more
wiley +1 more source
Pregnancy and Marfan syndrome [PDF]
Annals of Cardiothoracic Surgery, 2017 Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration. The leading cause of morbidity and mortality in MFS is aortic dissection.
Sorel, Goland, Uri, Elkayam
openaire +2 more sources
Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina +5 more
core +1 more source