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https://www.readbyqxmd.com/read/28730163/brain-strokes-related-to-aortic-aneurysma-the-analysis-of-three-cases
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28596275/skeletal-muscle-morphology-protein-synthesis-and-gene-expression-in-ehlers-danlos-syndrome
#14
Rie H Nygaard, Jacob K Jensen, Nicol C Voermans, Katja Maria Heinemeier, Peter Schjerling, Lars Holm, Jakob Agergaard, Abigail Louise Mackey, Jesper Løvind Andersen, Lars Remvig, Michael Kjaer
INTRODUCTION: Patients with Ehlers Danlos Syndrome are known to have genetically impaired connective tissue and skeletal muscle symptoms in form of pain, fatigue and cramps, however earlier studies have not been able to link these symptoms to morphological muscle changes. METHODS: We obtained skeletal muscle biopsies in patients with classic EDS (cEDS, n=5 (Denmark)+ 8 (The Netherlands)) and vascular EDS (vEDS, n=3) and analyzed muscle fiber morphology and content (Western blotting and muscle fiber type/area distributions) and muscle mRNA expression and protein synthesis rate (RT-PCR and stable isotope technique)...
June 8, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28588831/surgical-and-medical-treatment-of-ocular-disease-in-a-dog-with-ehlers-danlos-syndrome
#15
Søren N Rasch
Correctional surgery was performed on a 3-year-old intact male shih tzu presenting with Ehlers-Danlos syndrome, ocular disease, and skin fold dermatitis. A one-year follow-up showed that no further clinical corrections were needed. Therefore, surgery could be considered in some canine patients with Ehlers-Danlos syndrome.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28570239/spontaneous-coronary-artery-dissection-after-pregnancy-as-first-manifestation-of-a-vascular-ehlers-danlos-syndrome
#16
Alberto F Cereda, Paolo A Canova, Francesco S Soriano
We report the case of a myocardial infarction in the post-partum period due to a spontaneous coronary artery dissection. The role of intracoronary imaging was critical: OCT imaging led us to formulate the right diagnosis.OCT imaging revealed a multiple coronary artery dissection in the left main non-detectable on angiography and in the circumflex, with evidence of coronary hematoma in the circumflex and left anterior descending. Beside dissection, OCT showed evidence of a thrombus near the coronary tear in the left main...
June 2017: Journal of Invasive Cardiology
https://www.readbyqxmd.com/read/28568908/a-magnetic-resonance-imaging-study-of-gastric-motor-function-in-patients-with-dyspepsia-associated-with-ehlers-danlos-syndrome-hypermobility-type-a-feasibility-study
#17
A Menys, D Keszthelyi, H Fitzke, A Fikree, D Atkinson, Q Aziz, S A Taylor
BACKGROUND: The clinical use of Magnetic Resonance Imaging (MRI) for investigating gastric motor function in dyspepsia is limited, largely due to protocol complexity, cost and limited availability. In this study, we explore the feasibility of a sub 60-minute protocol using a water challenge to assess gastric emptying, motility and accommodation in a cohort of Ehlers-Danlos Syndrome-Hypermobility type (EDS-HT) patients presenting with dyspepsia. METHODS: Nine EDS-HT patients (mean age 33, range: 26-50 all female) with a history of dyspepsia were recruited together with nine-matched controls...
May 31, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28559755/multimodal-chiropractic-care-for-pain-and-disability-in-a-patient-diagnosed-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#18
Richard G Strunk
OBJECTIVE: The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. CLINICAL FEATURES: A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility...
June 2017: Journal of Chiropractic Medicine
https://www.readbyqxmd.com/read/28555287/genetic-diagnostics-of-inherited-aortic-diseases-medical-strategy-analysis
#19
Y von Kodolitsch, K Kutsche
Genetic aortic syndromes (GAS) include Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. We chose the standpoint of the cardiologist for our analysis. In the first step, the medical goals in the management of GAS are specified. In the second step, the accuracy of genetic diagnostics for GAS is examined...
May 29, 2017: Herz
https://www.readbyqxmd.com/read/28536668/brugada-syndrome-in-a-patient-with-vascular-ehlers-danlos-syndrome-sudden-death-risk-amplified
#20
Jason D'Souza, Divyanshu Malhotra, Aditya Goud, Chanukya Dahagam, George Everett
The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome...
April 19, 2017: Curēus
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