keyword
MENU ▼
Read by QxMD icon Read
search

Ehler Danlos

keyword
https://www.readbyqxmd.com/read/28807406/longitudinal-changes-in-segmental-aortic-stiffness-determined-by-cardiac-magnetic-resonance-in-children-and-young-adults-with-connective-tissue-disorders-the-marfan-loeys-dietz-and-ehlers-danlos-syndromes-and-nonspecific-connective-tissue-disorders
#1
Anthony Merlocco, Ronald V Lacro, Kimberlee Gauvreau, Nicole Rabideau, Michael N Singh, Ashwin Prakash
Aortic stiffness measured by cardiac magnetic resonance (CMR) in connective tissue disorder (CTD) patients has been previously shown to be abnormal and to be associated with adverse aortic outcomes. The rate of increase in aortic stiffness with normal aging has been previously described. However, longitudinal changes in aortic stiffness have not been characterized in CTD patients. We examined longitudinal changes in CMR-derived aortic stiffness in children and young adults with CTDs. A retrospective analysis of 50 children and young adults (median age, 20 years; range, 0...
July 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#2
Sarah Cohen, Fred Markham
Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28757364/ehlers-danlos-syndrome-kyphoscoliotic-type-due-to-lysyl-hydroxylase-1-deficiency-in-two-children-without-congenital-or-early-onset-kyphoscoliosis
#3
Fleur S van Dijk, Grazia M S Mancini, Alessandra Maugeri, Jan M Cobben
We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy...
July 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28742547/celiprolol-a-unique-selective-adrenoceptor-modulator
#4
James J Nawarskas, Angela Cheng-Lai, William H Frishman
Celiprolol is a β-blocker with a unique pharmacologic profile: it is a β1-andrenoceptor antagonist with partial β2 agonist activity. Given this combination of effects, celiprolol may be better described as a selective adrenoreceptor modulator. It has antihypertensive and antianginal properties and is indicated for those uses in various countries around the world. In the United States, however, the proposed indication for this drug will be for the treatment of vascular type Ehlers-Danlos syndrome, a rare connective tissue disorder characterized by fragile arterial structure and an increased risk of life-threatening vascular complications...
September 2017: Cardiology in Review
https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#5
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28739362/stroke-in-ehlers-danlos-syndrome-kyphoscoliotic-type-dissection-or-vasculitis
#6
Annegret Quade, Martin Wiesmann, Joachim Weis, Ingo Kurth, Houman Jalaie, Marianne Rohrbach, Martin Häusler
BACKGROUND: Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented. PATIENT DESCRIPTION: This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome had a large right middle cerebral artery distribution infarction. Full intravenous heparinization was started in response to presumed arterial dissection...
May 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28734943/deficits-in-col5a2-expression-result-in-novel-skin-and-adipose-abnormalities-and-predisposition-to-aortic-aneurysms-and-dissections
#7
Arick C Park, Noel Phan, Dawiyat Massoudi, Zhenjie Liu, John F Kernien, Sheila M Adams, Jeffrey M Davidson, David E Birk, Bo Liu, Daniel S Greenspan
Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent...
July 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28730163/brain-strokes-related-to-aortic-aneurysma-the-analysis-of-three-cases
#8
Żanna Pastuszak, Adam Stępień, Joanna Kordowska, Agnieszka Rolewska, Dariusz Galbarczyk
Brain stroke connected with aortic blood flow disturbances is a rare disease and its incidence is difficult to assume. Nevertheless, 10-50% of patients with aortic dissection may not experience any pain. In case of 18-30% patients with aortic dissection neurological signs are first disease presentation and among them ischemic stroke is the most common. The most popular aortic dissection classification is with use of Stanford system. Type A involves the ascending aorta and type B is occurring distal to the subclavian artery...
2017: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/28716513/update-in-the-treatment-of-chronic-pain-within-pediatric-patients
#9
Jeffrey Rabin, Mackenzie Brown, Sean Alexander
Pediatric chronic pain is a challenging entity to evaluate and treat as it encompasses a wide variety of presentations often with overlapping psychosocial implications. Chronic pain may have significant effects upon a child's involvement in academic, athletic, and social participation. If unrecognized, it may have deleterious effects upon family interactions and stability. The treatment of pediatric chronic pain is focused on not only providing analgesia, but also on assisting the child and family with reintegrating into a more functional lifestyle...
July 14, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28715511/endovascular-treatment-of-genetically-linked-aortic-diseases
#10
D Böckler, K Meisenbacher, A S Peters, C Grond-Ginsbach, M S Bischoff
BACKGROUND: The most important structural proteins of the vascular wall are collagen and elastin. Genetically linked connective tissue diseases lead to degeneration, aneurysm formation and spontaneous dissection or rupture of arteries. The most well-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. OBJECTIVE: This review article addresses the current status of endovascular treatment options for important connective tissue diseases...
2017: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
https://www.readbyqxmd.com/read/28705344/-claude-bernard-horner-syndrome-revealing-spontaneous-aneurysm-of-the-vertebral-artery
#11
M Zoulati, T Bakkali, N Aghoutane, B Bensaid, Y Lyazidi, Y Ouharakat, H Chtata, M Taberkant
False aneurysms of the extracranial vertebral artery (FAVA) are rare because of the path of the artery at the level of the transverse holes. They can be secondary to penetrating cervical trauma, spontaneous in the course of an angiopathy such as Ehlers-Danlos syndrome, or iatrogenic. We report the case of a 31-year-old woman who presented a syndrome of Claude Bernard-Horner related to a spontaneous FAVA. The angioscanner confirmed the diagnosis and the patient underwent successful surgical treatment of the false aneurysm with ligature of the vertebral artery...
July 2017: J Med Vasc
https://www.readbyqxmd.com/read/28698416/-second-pneumothorax-in-an-ehlers-danlos-syndrome-patient-initially-treated-by-bullaectomy-twenty-two-years-ago
#12
Yamato Suzuki, Shinsaku Ueda, Satoshi Suzuki
A 2nd pneumothorax developed in a 40-years-old man after his 1st bilateral pneumothoraces were successfully treated by bullaectomies 22 years ago. For the past 10 years, he has suffered major complications such as repeated bleeding into the digestive tract due to vascular-type Ehlers-Danlos syndrome (vEDS). Although preoperative computed tomography demonstrated multiple bullae at the apex of the right lung, any abnormal findings suggesting tissue fragility was not found. At surgery, visceral pleura of the right lung had an almost normal appearance through a thoracoscope...
July 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28686762/ehlers-danlos-syndrome-in-a-patient-with-lynch-syndrome-a-hand-on-the-door-diagnosis
#13
Candrice R Heath, Sheryl Miller
No abstract text is available yet for this article.
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28667723/kyphoscolitic-type-of-ehlers-danlos-syndrome-with-prenatal-stroke
#14
Meriem Zahed-Cheikh, Barthélémy Tosello, Stéphanie Coze, Catherine Gire
BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: Prenatal brain stroke is a rare clinical feature of EDSVIA...
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28657457/the-spectrum-of-spontaneous-coronary-artery-dissection-illustrated-review-of-the-literature
#15
Marian Vandamme, Julie De Backer, Tine De Backer, Benny Drieghe, Daniel Devos, Sofie Gevaert
Spontaneous coronary artery dissection or SCAD is a rare and challenging disease that is increasingly diagnosed. It is characterized by a non-traumatic, non-iatrogenic separation of the coronary artery wall and occurs predominantly in young and middle-aged women without traditional cardiovascular risk factors. SCAD is often associated with predisposing conditions such as the peripartum period, systemic inflammatory disease and heritable connective tissue disease. More recently, independent investigators have demonstrated an important association with fibromuscular dysplasia...
June 28, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28647420/increased-prevalence-of-cerebrovascular-disease-in-hospitalized-patients-with-ehlers-danlos-syndrome
#16
Sarasa T Kim, Harry Cloft, Kelly D Flemming, David F Kallmes, Giuseppe Lanzino, Waleed Brinjikji
BACKGROUND AND PURPOSE: Small studies have suggested that Ehlers-Danlos syndrome (EDS) is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of EDS is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). METHODS: Using the 2000-2012 NIS, we performed a case-control study matching cases of EDS to controls without such a diagnosis...
August 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28642694/ehlers-danlos-syndrome-hypermobility-type-impact-of-somatosensory-orthoses-on-postural-control-a-pilot-study
#17
Emma G Dupuy, Pascale Leconte, Elodie Vlamynck, Audrey Sultan, Christophe Chesneau, Pierre Denise, Stéphane Besnard, Boris Bienvenu, Leslie M Decker
Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#18
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#19
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#20
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
keyword
keyword
52315
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"