نتایج جستجو برای: سندرم ehlers

تعداد نتایج: 8884  

ژورنال: مجله دندانپزشکی 1994
جمالی, فریدون , کاظم زاده, افسر ,

This syndrome is a genetical disorder with symptoms result from deficit in the formation of connective tissue, especially collagen fiber biosynthesis. In these patients, there is hyperelasticity and fragility of the skin and mucosa. Injuries sever bleeding, internal bleeding and hemartrosis may be seen in these patients. Wounds leave scars after healing. There is recurrent dislocation of the jo...

Journal: :Neuron 2016
Michael Ehlers

Michael Ehlers Biogen Michael Ehlers is Executive Vice President for Research & Development at Biogen, a leading biotechnology company. Dr. Ehlers grew up rural Nebraska and earned his bachelor’s degree in chemistry from Caltech. He holds MD and PhD degrees from the Johns Hopkins University School of Medicine, where he trained with Rick Huganir. Prior to joining Biogen in 2016, Dr. Ehlers was S...

Journal: :British journal of haematology 2008
Liakat A Parapia Carolyn Jackson

Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, ...

ژورنال: :مجله دانشکده پزشکی اصفهان 0
منصور مقیمی استادیار، گروه پاتولوژی، دانشگاه علوم پزشکی شهید صدوقی، یزد، ایران. حمید رضا سلطانی گردفرامرزی دانشجوی پزشکی، عضو انجمن علمی پزشکی، دانشگاه آزاد اسلامی، واحد یزد، یزد، ایران. امید امینی راد دانشجوی پزشکی، عضو کمیته ی تحقیقات دانشجویی، دانشگاه علوم پزشکی شهید صدوقی، یزد، ایران

normal 0 false false false en-us x-none ar-sa normal 0 false false false en-us x-none ar-sa مقدمه: سندرم اهلرز- دانلس ( ehlers-danlos یا eds ) شامل گروهی از اختلالات ارثی نادر و ناهمگون بافت همبند است که با افزایش محدوده ی حرکات مفصل، شکنندگی و افزایش قابلیت ارتجاعی پوست مشخص می شود. تشخیص این سندرم اغلب دشوار می باشد و بیشتر بر معیارهای بالینی و سابقه ی فامیلی استوار است. تاکنون ضایعات پوستی م...

2010
Pinakin Gunvant Robert D Newcomb Elliot M Kirstein Victor E Malinovsky Richard J Madonna Richard E Meetz

PURPOSE To evaluate if using the Ehlers correction factor on the intraocular pressure (IOP) measured using the Goldmann applanation tonometer (GAT) improves its agreement with the PASCAL dynamic contour tonometer (DCT). PATIENTS AND METHODS A total of 120 eyes of 120 individuals were examined. Participants underwent IOP measurement with both the DCT and the GAT and central corneal thickness m...

Journal: :Chest 1989
T Kitazono T Imaizumi S Imayama H Shinkai A Takeshita M Nakamura

Ehlers-Danlos syndrome is an inherited connective tissue disorder. Clinical manifestations of this syndrome are due to fragile connective tissue. Though many cardiovascular disorders in association with it have been reported, myocardial infarction is quite rare. In this report, two cases with type 4 Ehlers-Danlos syndrome and myocardial infarction are described. Patient 1 was a 30-year-old woma...

Journal: :Journal of radiology case reports 2014
Aly Abayazeed Emily Hayman Mana Moghadamfalahi Darren Cain

Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation). The vascular type accounts for less than 4% of all Ehlers-Danlos cases and usually has a poor prognosis due to life threateni...

Journal: :Pediatric dentistry 1993
P J Bond G W Friend M W Meridith

The Ehlers-Danlos syndrome comprises a group of generalized connective tissue disorders characterized by fragile skin, skin hyperextensibility, and joint hypermobility. More than 10 types of Ehlers-Danlos syndrome have been identified based on genetic and biochemical studies. What is now known as Ehlers-Danlos syndrome (EDS) Type VIII was first described in 1972. We report a case of EDS Type VI...

Journal: :British medical journal 1968
P Beighton

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...

Journal: :British heart journal 1995
L C Adès R D Waltham A A Chiodo J F Bateman

Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual pr...

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