keyword
https://read.qxmd.com/read/38545882/patient-experiences-of-receiving-a-diagnosis-of-hypermobile-ehlers-danlos-syndrome
#1
JOURNAL ARTICLE
Yun-Ting Wang, Shiva Jahani, Dayna Morel-Swols, Angelica Kapely, Ami Rosen, Irman Forghani
Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare...
March 28, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38545281/do-people-with-me-cfs-and-joint-hypermobility-represent-a-disease-subgroup-an-analysis-using-registry-data
#2
JOURNAL ARTICLE
Kathleen Mudie, Allison Ramiller, Sadie Whittaker, Leslie E Phillips
BACKGROUND: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a chronic, multifaceted disease that affects millions globally. Despite its significant impact, the disease's etiology remains poorly understood, and symptom heterogeneity poses challenges for diagnosis and treatment. Joint hypermobility, commonly seen in hypermobile Ehlers-Danlos Syndrome (hEDS), has been observed in ME/CFS patients but its prevalence and clinical significance within this population are not well-characterized...
2024: Frontiers in Neurology
https://read.qxmd.com/read/38539379/generalized-joint-hypermobility-a-statistical-analysis-identifies-non-axial-involvement-in-most-cases
#3
JOURNAL ARTICLE
Mateus Marino Lamari, Neuseli Marino Lamari, Michael Peres de Medeiros, Matheus Gomes Giacomini, Adriana Barbosa Santos, Gerardo Maria de Araújo Filho, Eny Maria Goloni-Bertollo, Érika Cristina Pavarino
CONTEXT: Joint hypermobility (JH) represents the extreme of the normal range of motion or a condition for a group of genetically determined connective tissue disorders. Generalized joint hypermobility (GJH) is suspected when present in all four limbs and the axial skeleton, scored in prepubescent children and adolescents by a Beighton Score (BS) ≥ 6. Parameters are also used to identify GJH in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSDs)...
March 14, 2024: Children
https://read.qxmd.com/read/38534782/clinical-genomic-analysis-of-1261-patients-with-ehlers-danlos-syndrome-outlines-an-articulo-autonomic-gene-network-entome
#4
JOURNAL ARTICLE
Golder N Wilson, Vijay S Tonk
Systematic evaluation of 80 history and 40 history findings diagnosed 1261 patients with Ehlers-Danlos syndrome (EDS) by direct or online interaction, and 60 key findings were selected for their relation to clinical mechanisms and/or management. Genomic testing results in 566 of these patients supported EDS relevance by their differences from those in 82 developmental disability patients and by their association with general rather than type-specific EDS findings. The 437 nuclear and 79 mitochondrial DNA changes included 71 impacting joint matrix (49 COL5 ), 39 bone (30 COL1/2/9/11 ), 22 vessel (12 COL3/8VWF) , 43 vessel-heart (17 FBN1 /11 TGFB / BR) , 59 muscle (28 COL6/12 ), 56 neural (16 SCN9A / 10A / 11A ), and 74 autonomic (13 POLG /25porphyria related)...
March 19, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38532991/effective-doses-of-low-dose-naltrexone-for-chronic-pain-an-observational-study
#5
JOURNAL ARTICLE
Norman J Marcus, Lexi Robbins, Aya Araki, Edward J Gracely, Theoharis C Theoharides
PURPOSE: Despite the availability of a wide variety of analgesics, many patients with chronic pain often experience suboptimal pain relief in part related to the absence of any medication to address the nociplastic component of common pain syndromes. Low-dose naltrexone has been used for the treatment of chronic pain, typically at 4.5 mg per day, even though it is also noted that effective doses of naltrexone for chronic pain presentations range from 0.1 to 4.5 mg per day. We performed an observational analysis to determine the range of effective naltrexone daily dosing in 41 patients with chronic musculoskeletal pain...
2024: Journal of Pain Research
https://read.qxmd.com/read/38523329/prevalence-of-mthfr-polymorphisms-in-patients-with-hypermobile-ehlers-danlos-syndrome-and-hypermobile-spectrum-disorders-in-a-us-hypermobility-clinic
#6
JOURNAL ARTICLE
Jacques Courseault, Meenakshi Umar, Patrick Bordnick, Jocelyn Simons, Milla Volic, Allison Stock, Gregory Bix
OBJECTIVE: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are characterized by joint hypermobility, joint subluxations and dislocations, hyperextensible skin, and chronic and progressive multiorgan comorbidities. Diagnosing hEDS and HSD is difficult because of variable phenotypes and unknown genetic etiology. In our clinic, we observed many patients with hEDS and HSD with a high serum level of unmetabolized folate, which suggests that hypermobility may be linked to methylenetetrahydrofolate reductase (MTHFR)-mediated folate metabolism...
March 24, 2024: ACR open rheumatology
https://read.qxmd.com/read/38512841/web-based-survey-investigating-cardiovascular-complications-in-hypermobile-ehlers-danlos-syndrome-after-covid-19-infection-and-vaccination
#7
JOURNAL ARTICLE
Anthony L Guerrerio, Allyson Mateja, Gretchen MacCarrick, Jonathan Fintzi, Erica Brittain, Pamela A Frischmeyer-Guerrerio, Harry C Dietz
BACKGROUND: Hypermobile Ehlers-Danlos syndrome is a heritable connective tissue disorder associated with generalized joint hypermobility but also other multisystem comorbidities, many of which may be exacerbated during a viral illness or after a vaccination. We sought to determine whether individuals with hypermobile Ehlers Danlos syndrome report an increase in adverse events, including cardiovascular events, after COVID-19 illness or vaccination. METHODS: A cross-sectional web-based survey was made available from November 22, 2021, through March 15, 2022...
2024: PloS One
https://read.qxmd.com/read/38499084/beyond-confirmed-mast-cell-activation-syndrome-approaching-patients-with-dysautonomia-and-related-conditions
#8
REVIEW
Alexandra E Conway, Marylee Verdi, Marcus S Shaker, Jonathan A Bernstein, Claire C Beamish, Richard Morse, Juliette Madan, Michael W Lee, Gordon Sussman, Amer Al-Nimr, Matthew Hand, Daniel A Albert
Allergist-immunologists face significant challenges as experts in an ever-evolving field of neuroimmunology. Among these challenges is the increasingly frequent need to counsel patients with suspected mast cell-activation disorders about perceived comorbidities, which may include hypermobile Ehlers Danlos syndrome, amplified pain syndrome, fibromyalgia, burning sensation syndromes, migraines, irritable bowel syndrome, and postural orthostatic tachycardia syndrome. Patients may experience comorbid anxiety, panic disorder and depression associated with disturbed sleep, fatigue, and cognitive impairment that often worsen when their physical symptoms increase in severity...
March 16, 2024: Journal of Allergy and Clinical Immunology in Practice
https://read.qxmd.com/read/38495666/the-impact-of-pregnancy-in-patients-with-thoracic-aortic-disease-epidemiology-risk-assessment-and-management-considerations
#9
REVIEW
Valeria E Duarte, Jessica N Richardson, Michael N Singh
Thoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-blockade and strict blood pressure control, is essential throughout pregnancy...
2024: Methodist DeBakey Cardiovascular Journal
https://read.qxmd.com/read/38486236/patient-interest-in-the-development-of-a-center-for-ehlers-danlos-syndrome-hypermobility-spectrum-disorder-in-the-%C3%AF-chicagoland-region
#10
JOURNAL ARTICLE
Wendy Wagner, Tom A Doyle, Clair A Francomano, Dacre R T Knight, Colin M E Halverson
BACKGROUND: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients...
March 14, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38485809/successful-management-of-splenic-artery-dissection-after-sigmoid-colon-perforation-in-vascular-ehlers-danlos-syndrome
#11
JOURNAL ARTICLE
Moegi Yoshizaki, Yasuko Matsuo, Satoshi Yasuda, Shunsuke Doi, Takeshi Sakata, Minako Nagai, Kota Nakamura, Yuichiro Kohara, Shohei Toyoda, Toshihiro Tanaka, Masayuki Sho
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a genetic disorder that causes fragility of the systemic connective tissues. Of the 13 subtypes, vascular EDS (vEDS) is associated with abnormalities in collagen production, resulting in arterial rupture and intestinal perforation. Herein, we report the case of a man with confirmed vEDS who survived a ruptured dissected splenic artery aneurysm triggered by perforation of the sigmoid colon. CASE PRESENTATION: A 48-year-old man presented to our hospital with sudden severe lower abdominal pain...
March 15, 2024: Surgical Case Reports
https://read.qxmd.com/read/38476521/management-of-2-stage-breast-reconstruction-in-ehlers-danlos-syndrome-a-case-report
#12
Nehila Timothy, Madison Patrick, Deniz Dayicioglu
BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...
2024: Eplasty
https://read.qxmd.com/read/38466333/heavy-menstrual-bleeding-in-adolescents-with-joint-hypermobility-syndrome-hypermobile-type-ehlers-danlos-a-review
#13
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/38458387/diameter-and-dissection-of-the-abdominal-aorta-and-the-risk-of-distal-aortic-reoperation-after-surgery-for-type-a-aortic-dissection
#14
JOURNAL ARTICLE
Fausto Biancari, Andrea Perrotti, Tatu Juvonen, Giovanni Mariscalco, Matteo Pettinari, Javier Rodriguez Lega, Dario Di Perna, Timo Mäkikallio, Francesco Onorati, Konrad Wisniewki, Till Demal, Marek Pol, Giuseppe Gatti, Igor Vendramin, Mauro Rinaldi, Eduard Quintana, Sven Peterss, Mark Field, Antonio Fiore
BACKGROUND: Surgery for Stanford type A aortic dissection (TAAD) is associated with an increased risk of late aortic reoperations due to degeneration of the dissected aorta. METHODS: The subjects of this analysis were 990 TAAD patients who survived surgery for acute TAAD and had complete data on the diameter and dissection status of all aortic segments. RESULTS: After a mean follow-up of 4.2 ± 3.6 years, 60 patients underwent 85 distal aortic reoperations...
March 7, 2024: International Journal of Cardiology
https://read.qxmd.com/read/38450462/-features-of-genetic-mutations-in-children-with-high-myopia-combined-with-peripheral-retinal-degenerations
#15
JOURNAL ARTICLE
M E Weener, S A Obrubov, D Barh, A A Gubanov, V S Yushina
UNLABELLED: Degenerative changes in the peripheral regions of the ocular fundus allow a closer look at both the role of collagen genes and their mutations in children with high myopia. PURPOSE: The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations. MATERIAL AND METHODS: Study group was formed from the database of genetic studies of the Scientific and Clinical Center OOO Oftalmic, which consists of 4362 patients referred for medical genetic counseling and molecular genetic testing from 2016 to 2021...
2024: Vestnik Oftalmologii
https://read.qxmd.com/read/38449705/a-possible-newly-defined-and-treatable-secondary-cause-of-early-morning-wake-up-headaches-in-an-older-hypermobile-woman-nutcracker-physiology-with-spinal-epidural-venous-congestion
#16
Todd D Rozen, Zlatko Devcic, Beau B Toskich, DeLisa Fairweather, Katelyn A Bruno
INTRODUCTION: Left renal vein compression (nutcracker physiology) with secondary spinal epidural venous congestion is a newly recognized cause of daily persistent headache. Presently, only women with underlying symptomatic hypermobility issues appear to develop headache from this anatomic issue. The hypothesized etiology is an abnormal reset of the patient's cerebrospinal fluid (CSF) pressure to an elevated state. Headaches that occur during sleep can have a varied differential diagnosis, one of which is elevated CSF pressure...
2024: Case Reports in Neurology
https://read.qxmd.com/read/38433767/endovascular-intervention-to-treat-spontaneous-carotid-cavernous-fistula-in-a-patient-with-ehlers-danlos-syndrome-with-an-access-site-anatomical-variant
#17
Austin Jin Xian See, Abhishekh Hulegar Ashok, Yogish Joshi, Mathew Guilfoyle, Teik Choon See
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and potentially life-threatening inherited connective tissue disorder. Patients with vEDS can present with spontaneous arterial dissections and ruptured aneurysms. There are previous reports of large artery dissections and vessel rupture following conventional catheter diagnostic angiography. We present the case of a patient with vEDS who had a spontaneous carotid-cavernous fistula (CCF) and visceral aneurysms, associated with a normal variant of corona mortis...
March 2024: BJR Case Reports
https://read.qxmd.com/read/38433265/heterozygous-thbs2-pathogenic-variant-causes-ehlers-danlos-syndrome-with-prominent-vascular-features-in-humans-and-mice
#18
JOURNAL ARTICLE
Noam Hadar, Omri Porgador, Idan Cohen, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate a novel form of EDS with vascular features through clinical and histopathological phenotyping and genetic studies of a three-generation pedigree, displaying an apparently autosomal dominant phenotype of joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time and age-related aortic dilatation and rupture. Coagulation tests as well as platelet counts and function were normal...
March 4, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38415674/treatments-related-to-temporomandibular-disorders-among-patients-with-prevalent-types-of-ehlers-danlos-syndrome-in-sweden
#19
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/38412743/assessment-of-gait-mechanics-and-muscle-strength-in-hypermobile-ehlers-danlos-syndrome
#20
JOURNAL ARTICLE
Lindsey N Ball, Mariana V Jacobs, Christopher J McLouth, Jody Clasey, Clair Francomano, Mary B Sheppard, Michael A Samaan
BACKGROUND: Hypermobile Ehlers Danlos Syndrome, a heritable connective tissue disorder, is associated with muscle dysfunction, joint subluxations and pain. The impact of hypermobile Ehlers Danlos Syndrome on musculoskeletal mechanics is understudied. Therefore, the aim of this study was to assess the effects of hypermobile Ehlers Danlos Syndrome on lower extremity gait mechanics and muscle strength. METHODS: Eleven people with hypermobile Ehlers Danlos Syndrome and 11 asymptomatic controls underwent a 3D gait analysis and isometric hip and knee muscle strength assessment...
February 18, 2024: Clinical Biomechanics
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