نتایج جستجو برای: eds analysis

تعداد نتایج: 2845325  

2015
Delfien Syx Sofie Symoens Wouter Steyaert Anne De Paepe Paul J. Coucke Fransiska Malfait

Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT)...

1998
Guo-Fang Xu Tamal Bose

A mathematical analysis is performed on a recently reported gradient-based adaptive algorithm named the Euclidean Direction Set (EDS) method. It has been shown that the EDS algorithm has a computational complexity of O(N) for each system update, and a rate of convergence (based on computer simulations) comparable to the RLS algorithm. In this paper, the stability of the EDS method is studied an...

Journal: :American journal of human genetics 2012
Matthias Baumann Cecilia Giunta Birgit Krabichler Franz Rüschendorf Nicoletta Zoppi Marina Colombi Reginald E Bittner Susana Quijano-Roy Francesco Muntoni Sebahattin Cirak Gudrun Schreiber Yaqun Zou Ying Hu Norma Beatriz Romero Robert Yves Carlier Albert Amberger Andrea Deutschmann Volker Straub Marianne Rohrbach Beat Steinmann Kevin Rostásy Daniela Karall Carsten G Bönnemann Johannes Zschocke Christine Fauth

We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Clinically, the disorder shares many features with the kyphoscoliotic type of EDS (EDS VIA) and Ullrich congenital musc...

2013
Fransiska Malfait Sofie Symoens Nathalie Goemans Yolanda Gyftodimou Eva Holmberg Vanesa López-González Geert Mortier Sheela Nampoothiri Michael Bjorn Petersen Anne De Paepe

BACKGROUND Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. METHODS We performed biochemical and molecular analysis of type I (pro-) collagen in a cohort of seven patients referred ...

2013
Siriyara Jagannatha Prathapa Jeanette Held Sander van Smaalen

Dynamic and static electron densities (EDs) based on the independent spherical atom model (IAM) and multipole (MP) models of crambin were successfully computed, holding no series-termination effects. The densities are compared to EDs of small biological molecules at diverse temperatures. It is outlined that proteins exhibit an intrinsic flexibility, present as frozen disorder at 100 K, in contr...

2012
Paolo Longo Ray D Twesten

Introduction Up to now, researchers performing analytical investigations in the transmission electron microscope typically had to choose between analytical spectroscopy techniques. They might choose energy dispersive X-ray spectroscopy (EDS) analysis when working with thick samples containing high-Z elements or choose electron energy-loss spectroscopy (EELS) when studying low-Z materials in thi...

Journal: :BMC musculoskeletal disorders 2016
Akshatha Desai John J Connolly Michael March Cuiping Hou Rosetta Chiavacci Cecilia Kim Gholson Lyon Dexter Hadley Hakon Hakonarson

BACKGROUND Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family. METHODS Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recen...

2017
Claudia Celletti Filippo Camerota Marco Castori Federica Censi Laura Gioffrè Giovanni Calcagnini Stefano Strano

Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/...

Journal: :Folia histochemica et cytobiologica 2007
Yvetta Koeva Mariana Bakalska Nina Atanassova Katerina Georgieva Michail Davidoff

The enzyme 11beta-hydroxysteroid dehydrogenase (11beta-HSD) catalyzes the reversible conversion of physiologically active corticosterone to the biologically inert 11beta-dehydrocorticosterone in rat testis and protect the Leydig cells (LCs) against the suppressive effect of glucocorticoids. The developmental pathway of the adult LCs population is accompanied with an increase in the 11beta-HDS a...

2017
Makini Chisolm-Straker Logan Jardine Cyril Bennouna Nina Morency-Brassard Lauren Coy Maria Olivia Egemba Peter L. Shearer

Background: Individuals who have a transgender or gender nonconforming (TGGNC) experience belong to a marginalized segment of the U.S. population, and healthcare can be difficult for them to navigate. Although emergency departments (EDs) traditionally serve as healthcare "safety nets" for vulnerable populations, quantitative studies outside the United States have found that TGGNC-experienced pe...

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