نتایج جستجو برای: eds

تعداد نتایج: 26810  

2012
Daniela Melis Gerarda Cappuccio Virginia Maria Ginocchio Giorgia Minopoli Maurizia Valli Massimiliano Corradi Generoso Andria

Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen α2(I) and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. We describe a seven-year old f...

2017
Nadia Micali Maria G. Martini Jennifer J. Thomas Kamryn T. Eddy Radha Kothari Ellie Russell Cynthia M. Bulik Janet Treasure

BACKGROUND Eating disorders (EDs) are common amongst women; however, no research has specifically investigated the lifetime/12-month prevalence of eating disorders amongst women in mid-life (i.e., fourth and fifth decade of life) and the relevant longitudinal risk factors. We aimed to investigate the lifetime and 12-month prevalence of EDs and lifetime health service use and to identify childho...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2017
Fraser C Henderson Claudiu Austin Edward Benzel Paolo Bolognese Richard Ellenbogen Clair A Francomano Candace Ireton Petra Klinge Myles Koby Donlin Long Sunil Patel Eric L Singman Nicol C Voermans

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the ep...

Journal: :British journal of haematology 2004
Anne De Paepe Fransiska Malfait

Easy bruising and bleeding are not only characteristic manifestations of clotting and platelet disorders, they are also prominent features in some heritable collagen disorders, such as the Ehlers-Danlos syndromes (EDS). The EDS comprise a heterogeneous group of connective tissue diseases sharing clinical manifestations in skin, ligaments and joints, blood vessels and internal organs. Most EDS s...

2014
Lois A. Jackson Susan McWilliam Fiona Martin Julie Dingwell Margaret Dykeman Jacqueline Gahagan Jeff Karabanow

AIMS Many people who use drugs (PWUD) have multiple health and social needs, and research suggests that this population is increasingly accessing emergency departments (EDs) and shelters for health care and housing. This qualitative study explored the practices of those working in EDs and shelters when providing services to PWUD, with a particular focus on key challenges in service provision. ...

Journal: :Journal of medical genetics 2001
M Priolo C Laganà

The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some co...

2016
Marco Castori

Introduction: Ehlers-Danlos syndrome (EDS) groups together an increasing number of hereditary soft connective tissue disorders. Among the most common variants, the hypermobility type emerges as the most problematic, due to clinical similarities with the joint hypermobility syndrome, strong association with pain and lack of molecular confirmatory tests. To date, chronic pain and the related phys...

Journal: :journal of sleep sciences 0
demeke g. debebe department of immunology, school of medicine, tehran university of medical sciences international campus, tehran, iran khosro sadeghniat-haghighi occupational sleep research center, baharloo hospital, tehran university of medical sciences, tehran, iran yadollah shakiba department of immunology, school of medicine, kermanshah university of medical science, kermanshah, iran ania rahimi golkhandan occupational sleep research center, baharloo hospital, tehran university of medical sciences, tehran, iran maryam izad department of immunology, school of medicine, international campus, tehran university of medical sciences, tehran, iran

background and objective : narcolepsy is a chronic neurological disorder caused by loss of hypocretin (hcrt) neurons. both genetic and environmental factors play an important role for the development of narcolepsy. the mechanism of hcrt loss in narcolepsy is elusive; however, an autoimmune mediated destruction of hcrt neurons is suspected. the purpose of this study was to assess th17 related cy...

Journal: :Behavior genetics 2013
Margarita C T Slof-Op't Landt Meike Bartels Christel M Middeldorp Catherina E M van Beijsterveldt P Eline Slagboom Dorret I Boomsma Eric F van Furth Ingrid Meulenbelt

Genes are involved in eating disorders (EDs) and self-induced vomiting (SV), a key symptom of different types of EDs. Perfectionism and impulsivity are potential risk factors for EDs. TPH2 (tryptophan hydroxylase 2) SNP rs1473473 was previously associated with anorexia nervosa and EDs characterized by SV. Could perfectionism or impulsivity be underlying the association between rs1473473 and EDs...

Journal: :Arquivos de neuro-psiquiatria 2002
José Carlos Souza Luiz Alberto Magna Rubens Reimao

The prevalence of excessive daytime sleepiness (EDS) in general population was determined by means of 408 home interviews of adults, in a representative sample of Campo Grande city, Brazil. The random sample was stratified by sex, age and economic social status. EDS was considered in those with indexes 11 or more in the Epworth Sleepiness Scale. Statistics used chi-square, Fisher and Pearson te...

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