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Ehler Danlos Type 3

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https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#1
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/28596275/skeletal-muscle-morphology-protein-synthesis-and-gene-expression-in-ehlers-danlos-syndrome
#2
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/28559755/multimodal-chiropractic-care-for-pain-and-disability-in-a-patient-diagnosed-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#3
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/28488622/family-with-ehlers-danlos-syndrome-combined-classic-and-vascular-type-with-rare-presentation-of-progressive-myopathy-and-unusual-association-of-severe-facial-and-trigeminal-motor-weakness
#4
A Nalini, N Devaraddi, N Gayathri, Chandrajit Prasad, V Preethish-Kumar, K Polavarapu, S Shantanu
We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers-Danlos syndrome (EDS) [classic and vascular type] and progressive myopathy as the primary manifestation. A 35-year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. She had a history of recurrent jaw dislocation, easy bruising with hyperpigmentation, hyperextensibility of joints, translucent skin, and papyraceous scars...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#5
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#6
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28387435/collagen-v-haploinsufficiency-in-a-murine-model-of-classic-ehlers-danlos-syndrome-is-associated-with-deficient-structural-and-mechanical-healing-in-tendons
#7
Jessica M Johnston, Brianne K Connizzo, Snehal S Shetye, Kelsey A Robinson, Julianne Huegel, Ashley B Rodriguez, Mei Sun, Sheila M Adams, David E Birk, Louis J Soslowsky
Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls...
April 7, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28115524/p3h3-null-and-sc65-null-mice-phenocopy-the-collagen-lysine-under-hydroxylation-and-cross-linking-abnormality-of-ehlers-danlos-syndrome-type-via
#8
David M Hudson, MaryAnn Weis, Jyoti Rai, Kyu Sang Joeng, Milena Dimori, Brendan H Lee, Roy Morello, David R Eyre
Tandem mass spectrometry was applied to tissues from targeted mutant mouse models to explore the collagen substrate specificities of individual members of the prolyl 3-hydroxylase (P3H) gene family. Previous studies revealed that P3h1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3h2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV, and V. In screening for collagen substrate sites for the remaining members of the vertebrate P3H family, P3h3 and Sc65 knock-out mice revealed a common lysine under-hydroxylation effect at helical domain cross-linking sites in skin, bone, tendon, aorta, and cornea...
March 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28073822/obstructive-sleep-apnoea-and-quality-of-life-in-ehlers-danlos-syndrome-a-parallel-cohort-study
#9
Thomas Gaisl, Cecilia Giunta, Daniel J Bratton, Kate Sutherland, Christian Schlatzer, Noriane Sievi, Daniel Franzen, Peter A Cistulli, Marianne Rohrbach, Malcolm Kohler
BACKGROUND: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear. METHODS: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height...
August 2017: Thorax
https://www.readbyqxmd.com/read/27931013/the-influence-of-ehlers-danlos-syndrome-hypermobility-type-on-motherhood-a-phenomenological-hermeneutical-study
#10
Stijn De Baets, Marieke Vanhalst, Marieke Coussens, Lies Rombaut, Fransiska Malfait, Geert Van Hove, Patrick Calders, Guy Vanderstraeten, Dominique van de Velde
BACKGROUND: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. METHOD: A phenomenological-hermeneutical study, using in-depth interviews...
January 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27793082/dwarfism-with-joint-laxity-in-friesian-horses-is-associated-with-a-splice-site-mutation-in-b4galt7
#11
Peter A Leegwater, Manon Vos-Loohuis, Bart J Ducro, Iris J Boegheim, Frank G van Steenbeek, Isaac J Nijman, Glen R Monroe, John W M Bastiaansen, Bert W Dibbits, Leanne H van de Goor, Ids Hellinga, Willem Back, Anouk Schurink
BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level...
October 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27555128/peripheral-nerve-block-in-patients-with-ehlers-danlos-syndrome-hypermobility-type-a-case-series
#12
Andrew E Neice, Eryn E Stubblefield, Glenn E Woodworth, Michael F Aziz
STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy...
September 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27306637/small-fiber-neuropathy-is-a-common-feature-of-ehlers-danlos-syndromes
#13
Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria
OBJECTIVE: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). METHODS: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded...
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27297501/ehlers-danlos-syndrome-caused-by-biallelic-tnxb-variants-in-patients-with-congenital-adrenal-hyperplasia
#14
Wuyan Chen, Ashley F Perritt, Rachel Morissette, Jennifer L Dreiling, Markus-Frederik Bohn, Ashwini Mallappa, Zhi Xu, Martha Quezado, Deborah P Merke
Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27094596/orthostatic-intolerance-and-fatigue-in-the-hypermobility-type-of-ehlers-danlos-syndrome
#15
Inge De Wandele, Lies Rombaut, Tine De Backer, Wim Peersman, Hellen Da Silva, Sophie De Mits, Anne De Paepe, Patrick Calders, Fransiska Malfait
OBJECTIVE: To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT). METHODS: Eighty patients with EDS-HT and 52 controls participated in the first part of the study, which consisted of questionnaires. Fatigue was evaluated using the Checklist Individual Strength (CIS). As possible fatigue determinants OI [Autonomic Symptom Profile (ASP)], habitual physical activity (Baecke), affective distress [Hospital Anxiety and Depression Scale (HADS)], pain (SF36), medication use and generalized hypermobility (5-point score of Grahame and Hakim regarding generalized joint hypermobility) were studied...
August 2016: Rheumatology
https://www.readbyqxmd.com/read/27057491/elastosis-perforans-serpiginosa-in-a-case-of-pseudoxanthoma-elasticum-a-rare-association
#16
Konakanchi Venkatachalam, Kavya Chennamsetty
Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers-Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature...
March 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/26910848/type-v-collagen-in-health-disease-and-fibrosis
#17
REVIEW
Ki M Mak, Chien Yi M Png, Danielle J Lee
Type V collagen (COLV) is a regulatory fibril-forming collagen. It has at least three different molecular isoforms-α1(V)2 α2(V), α1(V)3, and α1(V)α2(V)α3(V)-formed by combinations of three different polypeptide α chains-α1(V), α2(V), and α3(V). COL V is a relatively minor collagen of the extracellular matrix (ECM). Morphologically, COLV occurs as heterotypic fibrils with type I collagen (COLI), microfilaments, or 12-nm-thick fibrils. COLV is synthesized in various mesenchymal cells and its gene expression is modulated by TGF-β and growth factors...
May 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/26824670/shoulder-function-pain-and-health-related-quality-of-life-in-adults-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#18
Elise Christine Johannessen, Helle Sundnes Reiten, Helene Løvaas, Silje Maeland, Birgit Juul-Kristensen
Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey, 110 patients diagnosed with JHS/EDS-HT and 140 gender- and age-matched healthy controls from Statistics Norway participated. Shoulder function, pain and HRQol were registered by Western Ontario Shoulder Instability Index (WOSI), Numerical Rating Scale (NRS), pain drawings, 36-item Short Form (SF-36)...
July 2016: Disability and Rehabilitation
https://www.readbyqxmd.com/read/26804218/pediatric-nonaortic-arterial-aneurysms
#19
Frank M Davis, Jonathan L Eliason, Santhi K Ganesh, Neal B Blatt, James C Stanley, Dawn M Coleman
OBJECTIVE: Pediatric arterial aneurysms are extremely uncommon. Indications for intervention remain poorly defined and treatments vary. The impetus for this study was to better define the contemporary surgical management of pediatric nonaortic arterial aneurysms. METHODS: A retrospective analysis was conducted of 41 children with 61 aneurysms who underwent surgical treatment from 1983 to 2015 at the University of Michigan. Arteries affected included: renal (n = 26), femoral (n = 7), iliac (n = 7), superior mesenteric (n = 4), brachial (n = 3), carotid (n = 3), popliteal (n = 3), axillary (n = 2), celiac (n = 2), ulnar (n = 2), common hepatic (n = 1), and temporal (n = 1)...
February 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/26545624/beyond-the-aortic-root-staged-open-and-endovascular-repair-of-arch-and-descending-aorta-in-patients-with-connective-tissue-disorders
#20
COMPARATIVE STUDY
Eric E Roselli, Jay J Idrees, Ashley M Lowry, Khalil Masabni, Edward G Soltesz, Douglas R Johnston, Vidyasagar Kalahasti, Eugene H Blackstone, Joseph F Sabik, Bruce W Lytle, Lars G Svensson
BACKGROUND: Improvements in care have prolonged survival of patients with connective tissue disorders (CTDs), but their entire native aorta remains at risk. Little data are available to guide treatment. Objectives were to characterize patients, describe repair methods, and assess outcomes. METHODS: From 1996 to 2012, 527 patients with CTDs underwent cardiovascular operations. Beyond the root, arch and descending repair was performed in 121 patients (23%) for aneurysm (n = 17), acute complicated dissection (n= 5), or chronic dissection with aneurysmal degeneration (n = 99)...
March 2016: Annals of Thoracic Surgery
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