keyword
https://read.qxmd.com/read/38466333/heavy-menstrual-bleeding-in-adolescents-with-joint-hypermobility-syndrome-hypermobile-type-ehlers-danlos-a-review
#1
REVIEW
Erin Isaacson, Tazim Dowlut-McElroy
Heavy menstrual bleeding has a high prevalence and is well documented in adult patients with hypermobile-type Ehlers-Danlos syndrome, but there is limited research surrounding work-up and treatment for the adolescent population. Excessive menstrual blood loss can significantly interfere with emotional and physical quality of life. A provider should acquire a comprehensive medical and menstrual history and focused physical examination, as well as baseline laboratory studies, to determine the presence of anemia or underlying bleeding disorder...
March 2024: Pediatric Annals
https://read.qxmd.com/read/38415674/treatments-related-to-temporomandibular-disorders-among-patients-with-prevalent-types-of-ehlers-danlos-syndrome-in-sweden
#2
JOURNAL ARTICLE
Negin Yekkalam, Mehmed Novo, Anders Wänman
The aim of this study was to assess the received TMD treatment modalities and the perceived outcome among the frequent types of EDS. A digital questionnaire was sent to the member of the National Swedish EDS Association during January-March 2022. The subsamples of hypermobile and classical EDS were constructed. Almost 90% reported TMD symptoms. Bite splint therapy, counselling, jaw training and occlusal adjustment were reported as the most common treatments with no statistically significant difference in terms of good effect between the two subsamples...
February 28, 2024: Cranio: the Journal of Craniomandibular Practice
https://read.qxmd.com/read/38301384/generation-of-the-human-induced-pluripotent-stem-cell-line-ibkmoli003-a-from-pbmcs-of-a-vascular-ehlers-danlos-syndrome-veds-patient-carrying-the-heterozygous-nonsense-mutation-c-430c%C3%A2-%C3%A2-t-p-q105-in-the-col3a1-gene
#3
JOURNAL ARTICLE
Sabrina Höpperger, Angeliki Spathopoulou, Lukas Mayer-Suess, Marta Suarez-Cubero, Katharina Sillaber, Ana Spreiz, Stefan Kiechl, Frank Edenhofer, Lisa Fellner
Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype...
January 26, 2024: Stem Cell Research
https://read.qxmd.com/read/38275067/cardiovascular-symptoms-dysautonomia-and-quality-of-life-in-adult-and-pediatric-patients-with-hypermobile-ehlers-danlos-syndrome-a-brief-review
#4
JOURNAL ARTICLE
Amanda Hertel, William R Black, Lindsey Malloy Walton, Julie Martin, Jordan Jones
BACKGROUND: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations, such as cardiovascular symptoms, musculoskeletal pain, and joint instability. Cardiovascular symptoms, such as lightheadedness and palpitations, and types of dysautonomia, including postural orthostatic tachycardia syndrome (POTS), are frequently reported in adults with hEDS and have been shown to negatively impact quality of life (QoL)...
January 24, 2024: Current Cardiology Reviews
https://read.qxmd.com/read/38205452/no-increase-in-acute-or-late-radiation-toxicities-in-patients-with-ehlers-danlos-syndrome-receiving-adjuvant-breast-radiation-therapy-a-report-of-four-cases-with-extended-follow-up
#5
Michael T Hsieh, Julan Amalaseelan, Abdul Rahim Mohd Tahir, Tue Le, Thomas P Shakespeare
Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of congenital collagen formation disorders characterised by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. Collagen vascular disorders have been implicated in increased incidence and severity of radiation toxicities; however, there are limited reports on the safety of radiation therapy with EDS. We identified all patients with EDS who received adjuvant conventional and hypofractionated breast radiation therapy at our institution and reviewed patient, treatment, and toxicity characteristics...
December 2023: Curēus
https://read.qxmd.com/read/38160052/ehlers-danlos-syndromes-importance-of-defining-the-type
#6
REVIEW
Fleur S van Dijk, Neeti Ghali, Arvind Chandratheva
Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic criteria for each type. This review aims to highlight the neurological features and other key characteristics of these EDS types...
December 30, 2023: Practical Neurology
https://read.qxmd.com/read/38075167/molecular-characterization-of-the-new-clinical-entity-associated-with-congenital-adrenal-hyperplasia-the-cah-x-syndrome-in-the-spanish-population
#7
JOURNAL ARTICLE
Laura Martínez Figueras, Rafael Muñoz Pacheco, Dolores García González, María Arriba Domènech, Begoña Ezquieta Zubicaray
OBJECTIVES: The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2 - TNXB and their respective pseudogenes ( CYP21A1P - TNXA ). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers-Danlos syndrome (EDS). Since SCAH-X has been recently described, the number of publications available is limited. The objective of this study was to set up a molecular approach and a screening algorithm for detecting CAH-X chimeras, determine their frequency and distribution in the Spanish population, and assess their clinical pattern of occurrence in a group of patients...
September 2023: Adv Lab Med
https://read.qxmd.com/read/37993146/spontaneous-rupture-of-breast-pseudoaneurysm-a-rare-case
#8
JOURNAL ARTICLE
Joana Mafra, Verena Pires, Cláudia Andrade, Ângela Reis Rodrigues
Ehlers-Danlos syndrome (EDS) type IV is a hereditary autosomal dominant disease associated with skin and vascular fragility, hyperextensibility and joint hypermobility. Spontaneous arterial rupture is one of its higher-risk features.The authors describe a case of a woman with EDS type IV who presented with a spontaneous breast haematoma associated with a pseudoaneurysm of a branch of the left internal mammary artery. The patient underwent a minimally invasive endovascular approach that was uneventful. However, 6 months later, she presented in the emergency room with a similar episode on the contralateral breast...
November 22, 2023: BMJ Case Reports
https://read.qxmd.com/read/37955292/-the-ehlers-danlos-syndrome-a-rare-disease-although-commonly-suspected
#9
JOURNAL ARTICLE
Elisa Docampo, Florence Lehane, Clio Ribbens
The Ehlers Danlos syndromes (EDS) are a heterogenous group of inherited connective tissue disorders characterized by generalized joint hypermobility and instability, tissue fragility and multiple functional disorders. The EDS hypermobility type (hEDS) is the most common but the mildest subtype of EDS and is defined by joint involvement. hSED diagnosis is based on clinical criteria because no genetic factors nor molecular basis have yet been identified. Since chronic pain constitutes one of hESD main symptoms, the diagnosis is frequently suspected although the syndrome is rare, with a prevalence estimated to be 1/10...
November 2023: Revue Médicale de Liège
https://read.qxmd.com/read/37800821/case-report-of-a-young-male-with-recurrent-pneumothorax-hemoptysis-and-intrapulmonary-cavitary-lesions
#10
JOURNAL ARTICLE
Sun Junping, Sun Tianyu, Wang Rentao, Li Shengshu, Han Xiaobo, Zhang Xinxin, Zhang Mingyue
RATIONALE: Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS. PATIENT CONCERNS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain...
October 6, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37774134/looking-back-and-beyond-the-2017-diagnostic-criteria-for-hypermobile-ehlers-danlos-syndrome-a-retrospective-cross-sectional-study-from-an-italian-reference-center
#11
JOURNAL ARTICLE
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Marika Vezzoli, Marina Venturini, Marina Colombi
The most common conditions with symptomatic joint hypermobility are hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Diagnosing these overlapping connective tissue disorders remains challenging due to the lack of established causes and reliable diagnostic tests. hEDS is diagnosed applying the 2017 diagnostic criteria, and patients with symptomatic joint hypermobility but not fulfilling these criteria are labeled as HSD, which is not officially recognized by all healthcare systems...
September 29, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37745744/the-analgesic-mismanagement-of-a-patient-with-ehlers-danlos-syndrome-hypermobility-variant-a-case-report
#12
Tharajan Gunendran, Namitha Uma Dwarakanath
Ehlers-Danlos syndrome (EDS) is a rare disorder affecting the connective tissue, resulting in joint hypermobility, elastic skin, and often chronic pain, especially in the hypermobility variant. Although opioids are commonly prescribed for pain, they can lead to opioid use disorder (OUD) and overdose. A 67-year-old female with Ehlers-Danlos syndrome hypermobility type (EDS-HT), osteoarthritis (OA), and anxiety received opioid-based pain management for a decade before changing her primary care physician...
September 2023: Curēus
https://read.qxmd.com/read/37658800/hypermobility-spectrum-disorders-and-irritable-bowel-syndrome-a-nationwide-study-of-1-6-million-adolescents
#13
JOURNAL ARTICLE
Yair Zloof, Lidor Peretz, Maya Braun, Maya Simchoni, Avishai M Tsur, Dorit Tzur, Estela Derazne, Amir Ben-Tov, Orit Pinhas-Hamiel, Gil Amarilyo, Saleh Daher, Amir Shlaifer, Yolanda Braun-Moscovici
BACKGROUND AND AIM: The association between hypermobility spectrum disorders/hypermobile type Ehlers-Danlos syndrome (HDS/hEDS) and irritable bowel syndrome (IBS) is yet to be clarified. We aimed to assess this association in a national sample of adolescents. METHODS: A population-based cross-sectional study included 1 627 345 Israeli adolescents (58% male; mean age 17 years) who were medically assessed before compulsory military service during 1998-2020...
September 2, 2023: Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/37653505/psychological-interventions-for-individuals-with-ehlers-danlos-syndrome-and-hypermobility-spectrum-disorder-a-scoping-review
#14
REVIEW
Jessica Z Song, Dorothy Luong, Estée C H Feldman, Susan Tran, Laure Perrier, Kathleen Eubanks, Mark Bayley, Monika Kastner, Maxwell Slepian, Sarah E P Munce
PURPOSE: To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). MATERIALS AND METHODS: Eligible studies reported on psychological interventions for individuals of all ages with EDS and/or HSD. All studies published in English were included, with no restrictions to publication year or status. MEDLINE, CINAHL, EMBASE, and PsycINFO were searched...
August 31, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37588442/erratum-to-management-of-shoulder-instability-in-hypermobility-type-ehlers-danlos-syndrome-2021-1-155-164-https-doi-org-10-1016-j-xrrt-2021-03-002
#15
(no author information available yet)
[This corrects the article DOI: 10.1016/j.xrrt.2021.03.002.].
May 2023: JSES Rev Rep Tech
https://read.qxmd.com/read/37508973/the-language-of-pain-in-the-hypermobile-ehlers-danlos-syndrome-metaphors-as-a-key-to-understanding-the-experience-of-pain-and-as-a-rehabilitation-tool
#16
JOURNAL ARTICLE
Filippo Camerota, Rachele Mariani, Giulia Cordiano, Michela Di Trani, Valentina Lodato, Alessandro Ferraris, Massimo Pasquini, Claudia Celletti
Ehlers-Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers-Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers-Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail...
July 8, 2023: Brain Sciences
https://read.qxmd.com/read/37491286/perioperative-opioid-minimization-approach-as-a-useful-protocol-in-the-management-of-patients-with-ehlers-danlos-syndrome-hypermobility-type-craniocervical-instability-and-severe-chronic-pain-who-are-to-undergo-occipito-cervical-fixation
#17
REVIEW
Carlos Ramírez-Paesano, Claudia Rodiera Clarens, Allan Sharp Segovia, Alan Coila Bustinza, Josep Rodiera Olive, Albert Juanola Galceran
Patients suffering from connective tissue disorders like Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). These patients experience myalgic encephalomyelitis, chronic fatigue, depression, extreme occipital-cervical pain, and severe widespread pain that is difficult to relieve with opioids. This complex and painful condition can be explained by the development of chronic neuroinflammation, opioid-induced hyperalgesia, and central sensitization...
July 25, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37378685/clinical-characteristics-of-patients-with-hypermobile-type-ehlers-danlos-syndrome-heds-and-generalized-hypermobility-spectrum-disorders-g-hsd-an-online-survey
#18
JOURNAL ARTICLE
Patricia Teran-Wodzinski, Ambuj Kumar
To examine the perspective of individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD), needed to help identify priorities and improve the lives of people living with these conditions. We conducted an online survey between November 2021 and January 2023. Participants were recruited through the Ehlers-Danlos Society's Research Surveys website. We obtained 483 responses and 396 were analyzed. 80% of the survey's respondents were individuals with hEDS, 90% were females, 30% were between 21 and 30, and 76% lived in North America, with 85% of the participants living in North America indicated being White or European American...
June 28, 2023: Rheumatology International
https://read.qxmd.com/read/37371195/child-abuse-misdiagnosed-by-an-expertise-center-part-i-medico-social-aspects
#19
JOURNAL ARTICLE
Marianne Vlaming, Pieter J J Sauer, Emile P F Janssen, Peter J van Koppen, Cornelis M A Bruijninckx, Marga W M Akkerman-Zaalberg van Zelst, H A Martino Neumann, Martin J C van Gemert
Child abuse is a dangerous situation for an infant. Professionals need to weigh the risk of failing to act when children are seriously harmed against the serious harm done by carrying out safeguarding interventions. In severe cases, foster care might be advisable. The negative effects for the child's psychosocial development requires that such placement must be based on very solid evidence. Our aim is to identify why Dutch parents whose child may have a medical condition that could mimic symptoms of child abuse have a significant chance of being erroneously convicted and losing custody of their child...
May 29, 2023: Children
https://read.qxmd.com/read/37323685/non-oral-manifestations-in-adults-with-a-clinical-and-molecularly-confirmed-diagnosis-of-periodontal-ehlers-danlos-syndrome
#20
JOURNAL ARTICLE
C Angwin, J Zschocke, T Kammin, E Björck, J Bowen, A F Brady, H Burns, C Cummings, R Gardner, N Ghali, R Gröbner, J Harris, M Higgins, D Johnson, U Lepperdinger, D Milnes, F M Pope, R Sehra, I Kapferer-Seebacher, G Sobey, F S Van Dijk
Introduction: Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per the 2017 International EDS Classification. In 2016, deleterious pathogenic heterozygous variants were identified in C1R and C1S , which encode components of the complement system. Materials and Methods: Individuals with a clinical suspicion of pEDS were clinically and molecularly assessed through the National EDS Service in London and Sheffield and in genetic services in Austria, Sweden and Australia...
2023: Frontiers in Genetics
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