keyword
https://read.qxmd.com/read/37313588/hypermobility-spectrum-disorders-and-active-migraine-in-israeli-adolescents-a-nationwide-study
#21
JOURNAL ARTICLE
Yair Zloof, Maya Simchoni, Estela Derazne, Avishai M Tsur, Dorit Tzur, Maya Braun, Gil Amarilyo, Amir Shlaifer, Asaf Honig, Yolanda Braun-Moscovici
OBJECTIVE: To assess the association between hypermobility spectrum disorders/hypermobile type Ehlers Danlos Syndrome (HSD/hEDS) and migraine in a national sample of adolescents in Israel. BACKGROUND: The association between HSD/hEDS and migraine is unclear, even more so in pediatric populations. METHODS: This population-based, cross-sectional study included 1,627,345 Israeli adolescents (945,519/1,626,407 [58%] males; mean age 17 ± 0...
June 14, 2023: Headache
https://read.qxmd.com/read/37238391/child-abuse-misdiagnosed-by-an-expertise-center-part-ii-misuse-of-bayes-theorem
#22
Martin J C van Gemert, Aeilko H Zwinderman, Peter J van Koppen, H A Martino Neumann, Marianne Vlaming
A newborn girl had, from two weeks on, small bruises on varying body locations, but not on her chest. Her Armenian grandmother easily bruised, too. Her mother was diagnosed with hypermobility-type Ehlers-Danlos-Syndrome (hEDS), an autosomal dominant connective tissue disorder, with a 50% inheritance probability. Referral to a University Medical Center located " Dutch Expertise Center for Child Abuse " resulted (prior to consultation) in physical abuse suspicion. Protocol-based skeletal X-rays showed three healed, asymptomatic rib fractures...
May 6, 2023: Children
https://read.qxmd.com/read/37231592/physical-therapy-interventions-in-generalized-hypermobility-spectrum-disorder-and-hypermobile-ehlers-danlos-syndrome-a-scoping-review
#23
REVIEW
Mackenzie Garreth Brittain, Sarah Flanagan, Lindsey Foreman, Patricia Teran-Wodzinski
PURPOSE: Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS). However, there is limited research describing these individuals' PT management. This review aims to systematically map the evidence on PT interventions to treat this patient population. METHODS: A systematic literature search of PubMed, CINAHL, and Embase from January 2000 to April 2023 was performed...
May 25, 2023: Disability and Rehabilitation
https://read.qxmd.com/read/37214418/case-report-further-delineation-of-aebp1-related-ehlers-danlos-syndrome-classical-like-eds-type-2-in-an-additional-patient-and-comprehensive-clinical-and-molecular-review-of-the-literature
#24
Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho
The Ehlers-Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is caused by biallelic variants in the adipocyte enhancer binding protein 1 ( AEBP1 ) gene, was identified. We describe the 11th patient (9th family) with clEDS2, who was complicated by a critical vascular event (superior mesenteric artery aneurysm and rupture). A next-generation sequencing panel-based analysis revealed compound heterozygous variants in AEBP1 : NM_001129...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37209665/assessment-of-functional-respiratory-complaints-and-related-factors-in-people-with-hypermobile-ehlers-danlos-syndrome-cross-sectional-study
#25
JOURNAL ARTICLE
Sara Reina-Gutiérrez, Gilles Caty, Ana Torres-Costoso, Laurent Pitance, Daniel H Manicourt, Gregory Reychler
BACKGROUND: Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common type of EDS. Apart from joint symptoms, people with hEDS have systemic manifestations as a chronic modification of the breathing pattern (functional respiratory complaints (FRCs)) and mental disorders. However, the prevalence of FRCs, and its relationship with mental disorders, have not yet been estimated for this population. OBJECTIVES: To assess the FRCs, central sensitization, disease perception, depression, and anxiety in people with hEDS from Belgium; and to identify the clustering of FRCs and determine any association with the characteristics assessed for this sample...
June 2023: Respiratory medicine and research
https://read.qxmd.com/read/37181352/high-overlap-in-patients-diagnosed-with-hypermobile-ehlers-danlos-syndrome-or-hypermobile-spectrum-disorders-with-fibromyalgia-and-40-self-reported-symptoms-and-comorbidities
#26
JOURNAL ARTICLE
DeLisa Fairweather, Katelyn A Bruno, Ashley A Darakjian, Barbara K Bruce, Jessica M Gehin, Archana Kotha, Angita Jain, Zhongwei Peng, David O Hodge, Todd D Rozen, Bala Munipalli, Fernando A Rivera, Pedro A Malavet, Dacre R T Knight
BACKGROUND: Joint pain is a common symptom in patients with hypermobile Ehlers-Danlos Syndrome (hEDS), hypermobility spectrum disorders (HSD) and fibromyalgia. The goal of this study was to determine whether symptoms and comorbidities overlap in patients diagnosed with hEDS/HSD and/or fibromyalgia. METHODS: We retrospectively examined self-reported data from an EDS Clinic intake questionnaire in patients diagnosed with hEDS/HSD, fibromyalgia, or both vs. controls with an emphasis on joint issues...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37168646/trust-your-instinct-lower-intestinal-bleeding-caused-by-ehlers-danlos-syndrome
#27
Ralph Melchior, Rudolf Funke, Bernd Wilken, Andreas Jenke
We report a 2.5-year-old boy who was presented with acute lower gastrointestinal bleeding. Emergency endoscopy showed two active mucosal bleeding sites that were successfully clipped. Initially, multiple intestinal angiodysplasias were considered, ruled out by a second control endoscopy. Here, multiple superficial lesions were observed that bled upon contact by the endoscope, suggestive of connective tissue disorder. However, the patient showed no clinical dysmorphias, only hypermobility of the toes but no other symptoms typical for such disorders...
August 2022: JPGN reports
https://read.qxmd.com/read/37144134/case-report-two-individuals-with-aebp1-related-classical-like-eds-further-clinical-characterisation-and-description-of-novel-aebp1-variants
#28
Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk
Introduction: AEBP1 -related classical-like EDS (clEDS type 2) is a rare type of Ehlers-Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB -related classical-like EDS (or clEDS type 1), including skin hyperextensibility, joint hypermobility, and easy bruising. There are currently nine reported individuals with AEBP1 -related clEDS type 2. This report confirms previous findings and provides additional clinical and molecular data on this group of individuals...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37143135/pediatric-joint-hypermobility-a-diagnostic-framework-and-narrative-review
#29
REVIEW
Louise Jane Tofts, Jane Simmonds, Sarah B Schwartz, Roberto M Richheimer, Constance O'Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T Tinkle, Antonie D Kline, Alan J Hakim, Marion A J van Rossum, Verity Pacey
BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults...
May 4, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37007968/tenascin-x-as-a-causal-gene-for-classical-like-ehlers-danlos-syndrome
#30
REVIEW
Emiko Okuda-Ashitaka, Ken-Ichi Matsumoto
Tenascin-X (TNX) is an extracellular matrix glycoprotein for which a deficiency results in a recessive form of classical-like Ehlers-Danlos syndrome (clEDS), a heritable connective tissue disorder with hyperextensible skin without atrophic scarring, joint hypermobility, and easy bruising. Notably, patients with clEDS also suffer from not only chronic joint pain and chronic myalgia but also neurological abnormalities such as peripheral paresthesia and axonal polyneuropathy with high frequency. By using TNX-deficient ( Tnxb -/- ) mice, well-known as a model animal of clEDS, we recently showed that Tnxb -/- mice exhibit hypersensitivity to chemical stimuli and the development of mechanical allodynia due to the hypersensitization of myelinated A-fibers and activation of the spinal dorsal horn...
2023: Frontiers in Genetics
https://read.qxmd.com/read/36970158/aortic-dissection-in-a-patient-with-novel-frameshift-col5a1-variant-of-classical-ehlers-danlos-syndrome
#31
JOURNAL ARTICLE
Lídia Caley, Ana Campar, Teresa Mendonça, Fátima Farinha
UNLABELLED: Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. The occurrence of aortic dissection has been described in some subtypes of Ehlers-Danlos, but it has a rare association with the cEDS subtype. This case report discusses a 39-year-old female with a past medical history of transposition of great arteries with a Senning repair at the age of 18 months and controlled hypertension with medication, who presents a spontaneous distal aortic dissection...
2023: European Journal of Case Reports in Internal Medicine
https://read.qxmd.com/read/36909907/the-role-of-gene-encoding-collagen-secretion-protein-serpinh1-in-the-pathogenesis-of-a-hypermobile-type-of-ehlers-danlos-syndrome
#32
JOURNAL ARTICLE
Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Olga Haus
INTRODUCTION: Hypermobile (hEDS) Ehlers-Danlos syndrome (EDS) is a non-inflammatory, autosomal dominant connective tissue disorder. hEDS, unlike other types of EDS, has no known genetic aetiology, so diagnosis is conducted based on a person's medical history, a physical examination, and exclusion of other types of EDS after genetic tests. AIM: The present study was a sequencing analysis of the SERPINH1 gene and the evaluation of the potential impact of variants of this gene on their role in the aetiology of the hypermobile type of EDS...
February 2023: Postȩpy Dermatologii i Alergologii
https://read.qxmd.com/read/36894757/the-biopsychosocial-impact-of-hypermobility-spectrum-disorders-in-adults-a-scoping-review
#33
REVIEW
Natalie L Clark, Melissa Johnson, Amar Rangan, Lucksy Kottam, Katherine Swainston
Joint hypermobility affects approximately 30% of the United Kingdom (UK) population, characterised by the ability to move joints beyond the physiological limits. Associated conditions include Ehlers-Danlos syndrome and hypermobility spectrum disorders, affecting individuals across physical, psychological and social levels detrimentally impacting their health and wellbeing. The scoping review aims to describe the known biopsychosocial impact of joint hypermobility conditions in adults over the last decade. Additional objectives include to (1) identify the types of studies that address these factors, (2) to understand how the impact of the condition is measured and managed and (3) what healthcare professionals (HCPs) are involved...
June 2023: Rheumatology International
https://read.qxmd.com/read/36833436/histories-of-dermatan-sulfate-epimerase-and-dermatan-4-o-sulfotransferase-from-discovery-of-their-enzymes-and-genes-to-musculocontractural-ehlers-danlos-syndrome
#34
REVIEW
Shuji Mizumoto, Shuhei Yamada
Dermatan sulfate (DS) and its proteoglycans are essential for the assembly of the extracellular matrix and cell signaling. Various transporters and biosynthetic enzymes for nucleotide sugars, glycosyltransferases, epimerase, and sulfotransferases, are involved in the biosynthesis of DS. Among these enzymes, dermatan sulfate epimerase (DSE) and dermatan 4- O -sulfotranserase (D4ST) are rate-limiting factors of DS biosynthesis. Pathogenic variants in human genes encoding DSE and D4ST cause the musculocontractural type of Ehlers-Danlos syndrome, characterized by tissue fragility, joint hypermobility, and skin hyperextensibility...
February 16, 2023: Genes
https://read.qxmd.com/read/36833192/pseudogene-tnxa-variants-may-interfere-with-the-genetic-testing-of-cah-x
#35
JOURNAL ARTICLE
Qizong Lao, Kiet Zhou, Megan Parker, Fabio R Faucz, Deborah P Merke
CAH-X is a hypermobility-type Ehlers-Danlos syndrome connective tissue dysplasia affecting approximately 15% of patients with 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) due to contiguous deletion of CYP21A2 and TNXB genes. The two most common genetic causes of CAH-X are CYP21A1P-TNXA/TNXB chimeras with pseudogene TNXA substitution for TNXB exons 35-44 (CAH-X CH-1) and TNXB exons 40-44 (CAH-X CH-2). A total of 45 subjects (40 families) from a cohort of 278 subjects (135 families of 21-OHD and 11 families of other conditions) were found to have excessive TNXB exon 40 copy number as measured by digital PCR...
January 19, 2023: Genes
https://read.qxmd.com/read/36740495/-respiratory-manifestations-of-ehlers-danlos-syndromes
#36
REVIEW
A Benattia, K Benistan, M Frank, S Boussouar
Ehlers-Danlos syndromes (EDS) represent a heterogeneous group of heritable connective tissue disorders characterized by the clinical "triad" consisting in joint hypermobility, skin hyperextensibility and tissue fragility. Respiratory manifestations associated with EDS are frequent and variable. They vary mainly according to the type of EDS. In hypermobile and classical EDS, the most frequent non-vascular types, dyspnea is a common symptom. Its etiologies are wide-ranging and can coexist in the same patient: asthma, respiratory muscle weakness, chest wall abnormalities, upper and lower airway collapse...
February 3, 2023: Revue des Maladies Respiratoires
https://read.qxmd.com/read/36726531/evaluating-the-effects-of-two-different-kinesiology-taping-techniques-on-shoulder-pain-and-function-in-patients-with-hypermobile-ehlers-danlos-syndrome
#37
JOURNAL ARTICLE
Frank Tudini, David Levine, Michael Healy, Max Jordon, Kevin Chui
BACKGROUND: Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders which predominantly affects women and has a prevalence as high as 1 in 5,000 individuals. Hypermobile EDS (hEDS) is the most common subtype of EDS and is characterized by multi-joint pain, particularly in large joints such as the shoulder. Physical therapy is often utilized to address the pain, physical impairments, and functional loss in patients with EDS. Kinesiology Tape (KT) is an intervention commonly used by physical therapists for treating shoulder pain and dysfunction...
2023: Front Pain Res (Lausanne)
https://read.qxmd.com/read/36686105/deep-venous-thrombosis-and-pulmonary-thromboembolism-associated-with-retroperitoneal-hematoma-in-a-patient-with-ehlers-danlos-syndrome-type-vi
#38
Catarina Pereira, Fernando Nogueira, José Cunha Marques, José Pestana Ferreira, Jorge S Almeida
Ehlers-Danlos Syndrome (EDS) is a group of genetic diseases of the connective tissue, which is rare and is characterized by joint hypermobility, tissue, and vascular fragility. We present the case of a 38-year-old woman with a known diagnosis of EDS type VI who came to the emergency room, complaining of sudden dyspnea in the context of abdominal pain and pain in the left lower limb with one week of evolution. Computed axial tomography showed the presence of bilateral pulmonary thromboembolism, iliofemoral thrombosis, and a retroperitoneal hematoma...
December 2022: Curēus
https://read.qxmd.com/read/36603143/a-novel-mutation-in-collagen-transport-protein-mia3-gene-detected-in-a-patient-with-clinical-symptoms-of-ehlers-danlos-hypermobile-syndrome
#39
JOURNAL ARTICLE
Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Olga Haus
BACKGROUND: Collagen, the most abundant human protein, is a significant component of the extracellular matrix (ECM) in tissues and organs like skin, bone, ligaments, and tendons. Collagen secretion is a complex, multistage process involving many molecules. A protein playing one of the main functions in this process is TANGO1 encoded by MIA3 gene. In the hypermobile type of Ehlers-Danlos syndrome (hEDS), one of the most common collagenopathies with no known genetic background, disrupted secretion of many molecules (including collagen) was observed...
January 5, 2023: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://read.qxmd.com/read/36552803/rna-seq-of-dermal-fibroblasts-from-patients-with-hypermobile-ehlers-danlos-syndrome-and-hypermobility-spectrum-disorders-supports-their-categorization-as-a-single-entity-with-involvement-of-extracellular-matrix-degrading-and-proinflammatory-pathomechanisms
#40
JOURNAL ARTICLE
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping connective tissue disorders of unknown etiology and without any validated diagnostic biomarker and specific therapies. Herein, we in-depth characterized the cellular phenotype and gene expression profile of hEDS and HSD dermal fibroblasts by immunofluorescence, amplicon-based RNA-seq, and qPCR. We demonstrated that both cell types show a common cellular trait, i.e., generalized extracellular matrix (ECM) disarray, myofibroblast differentiation, and dysregulated gene expression...
December 14, 2022: Cells
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