Ehlers-Danlos Research Articles

Heterozygous COL5A1 deletion in a cat with classical Ehlers-Danlos syndrome.

Heterozygous COL5A1 deletion in a cat with classical Ehlers-Danlos syndrome.

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

BackgroundThe Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark features including joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical manifestations and their severity differ among the subtypes, encompassing recurrent joint dislocations, scoliosis, arterial aneurysm and dissection, and organ rupture. Challenges in diagnosis and management arise from the complexity of the disease, which is further complicated by its rarity. The development of clinical guidelines and implementation of coordinated multi-disciplinary team (MDT) approaches have emerged as global priorities.Main bodyChinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes was therefore established. Healthcare professionals were recruited from 25 top hospitals across China. The experts are specialized in 24 fields, including genetics, vascular surgery, dermatology, and orthopedics, as well as nursing care, rehabilitation, psychology, and nutrition. Based on GRADE methodology, the Guidelines were written by the Group supervised by methodologists, following a systemic review of all 4453 articles in PubMed published before August 9, 2023, using the search term “Ehlers Danlos”. A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. In addition to the treatment plan, the Guidelines also emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. This integration not only facilitates recovery in hospital settings, but most importantly, the transition from an illness-defined life to a more “normalized” life.ConclusionThe first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients. This article is a synopsis of the full guidelines.

An online pain management program for people with hypermobile Ehlers-Danlos Syndrome or hypermobility spectrum disorder: a three-staged development process

Purpose Hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD) are painful, chronic and multi-systemic conditions. No online pain management programs for hEDS/HSD currently exist. We aimed to develop one by exploring what people with hEDS/HSD want in such programs. Materials and methods A Delphi was conducted via online surveys of stakeholders: participants with hEDS/HSD and healthcare professionals (HCP). In survey 1, participants were asked if a hEDS/HSD-specific online pain management program was important, listing up to 20 topics important to know about pain. In survey 2, participants rated the importance of those topics. Consensus was set as ≥75% rating of at least “important”. Using topics that reached consensus, the online program was developed. Usability testing was performed using the Systems Usability Scale (SUS). Results 396 hEDS/HSD and 29 HCP completed survey 1; 151 hEDS/HSD and 12 HCP completed survey 2. 81% of hEDS/HSD and 69% of HCP rated a hEDS/HSD-specific program as at least “important”. Thirty-five topics reached consensus to guide content for the HOPE program (Hypermobile Online Pain managemEnt). SUS score was 82.5, corresponding to “high acceptability”. Conclusions A hEDS/HSD-specific online pain management program is important to stakeholders. Utilising a Delphi approach to incorporate stakeholder input, an evidence-informed and user appropriate program was developed.

Postural Orthostatic Tachycardia Syndrome (POTS) as an Adverse Event to the Human Papilloma Virus (HPV) Vaccine and Its Relationship with Ehlers–Danlos Syndrome (EDS)

Gardasil 4, a human papilloma virus vaccine, has been shown to protect against various cancers, including cervical cancer. Common side effects include injection site pain, fever, headaches, and muscle aches. In some individuals, the severe side effect of postural orthostatic tachycardia syndrome (POTS) has been reported. POTS is characterized by the abnormal response of lightheadedness, blurry vision, and dizziness while transitioning to an upright posture. POTS predominately affects women, with more than eighty-five (85) percent of POTS patients being female. POTS, on average, takes five years and eleven months to receive diagnosis. Additionally, a strong association between POTS and Ehlers–Danlos Syndrome Type III (EDS) exists. Eighty (80) percent of patients with EDS have POTS. This severe side effect indicates that providers need to be aware of this strong association of HPV vaccinations and POTS. In this report, we will present a case of a young women with a past medical history significant for EDS type III who was diagnosed with POTS after receiving Gardasil 4 vaccination. This case demonstrates the need for physicians to be aware of the association of POTS with EDS type III and HPV vaccination. Physician awareness of the associations, signs, and symptoms of POTS and earlier testing at the first presentation of signs and symptoms will limit the negative impact on patient’s quality of life.

Traumatic False Passage During Nasogastric Tube Insertion and Spontaneous Small Bowel Perforation in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report

Traumatic False Passage During Nasogastric Tube Insertion and Spontaneous Small Bowel Perforation in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report

FACTORS INFLUENCING POST-CIRCUMCISION WOUND HEALING

Objective: This study aims to determine the effect of the penile gland and smegma smear, the expression of collagen and fibroblasts in the preputium, on post-circumcision wound healing. Material & Methods: A cross-sectional study conducted in Malang with samples obtained by purposive sampling on September 17, 2022. Inclusive criteria were uncircumcised males who agreed to be circumcised and had no contraindications to the procedure. Furthermore, the preputium obtained from the circumcision procedure was stained with Hematoxylin-Eosin (HE) and counted under an optical microscope. Post-circumcision evaluation was carried out seven days after the procedure. The data were analyzed using the regression method; p denotes the probability value or significance level, while the b score denotes the degree of influence. Results: There were total of 31 research samples that had a significant difference in the average age between the samples with post-circumcision complaints (11.25 ± 2.75) and those without complaints (8.5 ± 2.73) (p=0.05). The regression test found that bacterial culture, fibroblasts, and collagen had significant effects of 24%, 25%, and 24%, respectively. Conclusions: Skin elasticity decreases with age, as marked by increased fibroblasts and decreased collagen density. Fibroblast factors, collagen, and bacterial culture are significant in wound healing. Keywords: Circumcision, collagen, fibroblast, wound healing.

Understanding the Interplay Between Skin, Fascia, and Muscles of the Midface in Facial Aging.

Surgical, minimally-invasive, and non-invasive aesthetic procedures try to ameliorate the signs of facial aging, but also focus on enhancing various individual features of beauty in each patient. Herein, the midface plays a central role due to its location but also its importance for the aesthetic perception and facial expression. To date, no study has investigated the interplay between facial muscles and its connecting subdermal architecture during facial aging to provide a more comprehensive understanding of the middle face. A total of 76 subjects, consisting of 30 males (39.5%) and 46 females (60.5%) with a mean age of 42.2 (18.7) years [range 19-80] and a mean BMI of 24.6 (3.7) kg/m2 [range 18-35], were enrolled in this investigation. Cutometry (skin aging), 3D skin displacement analyses (subdermal connective tissue aging), and sEMG (muscle aging) analyses were utilized. The results revealed that overall skin firmness increased, and skin elasticity decreased (p < 0.001), sEMG signal of the investigated muscles decreased (p < 0.001), whereas midfacial mobility remained unaltered (p = 0.722). The results of this study indicate that midfacial aging is a measurable effect when utilizing individual measurement modalities for assessing skin, subdermal fascia, and midfacial muscles. The function of midfacial muscles revealed a potential threshold effect, which is not reached during midfacial aging due to the unchanged soft tissue mobility at older age. However, to understand its clinical presentation all midfacial soft tissues need to be factored in and a holistic picture needs to be created. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes review articles, book reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to authors www.springer.com/00266 .

Does tenascin-X correlate with adrenal dysfunction in patients with Ehlers-Danlos syndrome?

Does tenascin-X correlate with adrenal dysfunction in patients with Ehlers-Danlos syndrome?

The effects of obesity on bone mineral density in women with Ehlers-Danlos syndrome

The effects of obesity on bone mineral density in women with Ehlers-Danlos syndrome

Can tenascin - X be a marker of bone turnover in patients with Ehlers-Danlos syndrome?

Can tenascin - X be a marker of bone turnover in patients with Ehlers-Danlos syndrome?

Vitamin D deficiency in patients with Ehlers-Danlos syndrome

Vitamin D deficiency in patients with Ehlers-Danlos syndrome

Is autoimmune thyroiditis in females with Ehlers-Danlos syndrome associated with lower bone density?

Is autoimmune thyroiditis in females with Ehlers-Danlos syndrome associated with lower bone density?

Is autoimmune thyroiditis in females with ehlers-danlos syndrome associated with lower bone density?

Is autoimmune thyroiditis in females with ehlers-danlos syndrome associated with lower bone density?

Skin assessment in congenital untreated isolated GH deficiency.

The separation between the inside and outside through the skin was fundamental for the evolution of prevertebrates, which grow through extrapituitary circuits, to vertebrates, which grow through the somatotrophic axis, namely pituitary growth hormone (GH). and circulating IGF1.Individuals with untreated isolated growth hormone (GH) deficiency (IGHD) due to a mutation in the GH-releasing hormone receptor (GHRH) gene, residing in Itabaianinha, Brazil, are vulnerable to skin cancer and have reduced sweating. However other aspects of their skin physiology are still unknown. Our objectives were to evaluate the number of skin cancers, skin aging, and functional aspects of the skin in this IGHD cohort. Twenty-six IGHD individuals and 26 controls matched by age, sex, ethnicity, and occupation were submitted to a biochemical, dermatological and a functional skin assessment by the Multi Probe Adapter Cutometer® MPA 580. There was no difference in the number of skin cancers and in the degrees of photodamage between the groups. The melanin content in the forearm was similar between the groups but was lower in the buttocks (p = 0.005), as well as skin resistance (p < 0.0001) and elasticity (p = 0.003), lower in the IGHD. There was no difference in hydration and sebum content between the two groups. IGHD is apparently associated with a neutral profile in terms of skin cancer and photodamage, with similar melanin on the forearm and lower buttocks, lower skin resistance and elasticity, with hydration and sebum similar to controls.

Intra-Individual Paired Mass Spectrometry Dataset for Decoding Solar-Induced Proteomic Changes in Facial Skin

Photoaging is the premature aging of the skin caused by prolonged exposure to solar radiation. The visual alterations manifest as wrinkles, reduced skin elasticity, uneven skin tone, as well as other signs that surpass the expected outcomes of natural aging. Beyond these surface changes, there is a complex interplay of molecular alterations, encompassing shifts in cellular function, DNA damage, and protein composition disruptions. This data descriptor introduces a unique dataset derived from ten individuals, each with a minimum of 18 years of professional experience as a driver, who are asymmetrically and chronically exposed to solar radiation due to their driving orientation. Skin samples were independently collected from each side of the face using a microdermabrasion-like procedure and analyzed on an Exploris 240 mass spectrometer. Our adapted proteomic statistical framework leverages the sample pairing to provide robust insights. This dataset delves into the molecular differences in exposed skin and serves as a foundational resource for interdisciplinary research in photodermatology, targeted skincare treatments, and computational modelling of skin health.

Lack of Diversity in Research on Females with Ehlers-Danlos Syndromes: Recruitment Protocol for a Quantitative Online Survey.

Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by fragile lax collagen. Current EDS research lacks racial and ethnic diversity. The lack of diversity may be associated with the complexities of conducting a large international study on an underdiagnosed condition and a lack of EDS health care providers who diagnose and conduct research outside of the United States and Europe. Social media may be the key to recruiting a large diverse EDS sample. However, studies that have used social media to recruit have not been able to recruit diverse samples. This study aims to discuss challenges, strategies, outcomes, and lessons learned from using social media to recruit a large sample of females with EDS. Recruitment on social media for a cross-sectional survey examining dyspareunia (painful sexual intercourse) in females was examined. Inclusion criteria were (1) older than 18 years of age, (2) assigned female at birth, and (3) diagnosed with EDS. Recruitment took place on Facebook and Twitter (now X), from June 1 to June 25, 2019. A total of 1178 females with EDS were recruited from Facebook (n=1174) and X (n=4). On Facebook, participants were recruited via support groups. A total of 166 EDS support groups were identified, 104 permitted the principal investigator to join, 90 approved posting, and the survey was posted in 54 groups. Among them, 30 of the support groups posted in were globally focused and not tied to any specific country or region, 21 were for people in the United States, and 3 were for people outside of the United States. Recruitment materials were posted on X with the hashtag #EDS. A total of 1599 people accessed the survey and 1178 people were eligible and consented. The average age of participants was 38.6 (SD 11.7) years. Participants were predominantly White (n=1063, 93%) and non-Hispanic (n=1046, 92%). Participants were recruited from 29 countries, with 900 (79%) from the United States and 124 (11%) from Great Britain. Our recruitment method was successful at recruiting a large sample. The sample was predominantly White and from North America and Europe. More research needs to be conducted on how to recruit a diverse sample. Areas to investigate may include connecting with more support groups from outside the United States and Europe, researching which platforms are popular in different countries, and translating study materials into different languages. A larger obstacle to recruiting diverse samples may be the lack of health care providers that diagnose EDS outside the United States and Europe, making the pool of potential participants small. There needs to be more health care providers that diagnose and treat EDS in countries that are predominantly made up of people of color as well as research that specifically focuses on these populations. RR1-10.2196/53646.

Ehlers-Danlos Syndrome with Classical Subtype in a Cat

Ehlers-Danlos Syndrome with Classical Subtype in a Cat

What you need to know about common skin problems in older adults.

Skin ageing is a multifaceted process impacted by both intrinsic and extrinsic factors. Drier and less elastic skin with declining sebum levels in older age makes ageing skin more vulnerable to various skin conditions, including infections, inflammatory dermatoses, and cancers. Skin problems are common among older adults due to the effects of ageing, polypharmacy and multimorbidity impacting not only physical health but wellbeing and quality of life. In the UK, older adults in geriatric medicine wards may present with various skin conditions. Hospitalised older individuals may have undiagnosed skin problems unrelated to their admission, making hospitalisation an opportunity to manage unmet needs. Asteatotic eczema, incontinence associated dermatitis, seborrhoeic dermatitis, chronic venous insufficiency, and cellulitis are common disorders clinicians encounter in the geriatric medicine wards. This article outlines the importance of performing comprehensive skin assessments to help diagnose and commence management for these common conditions.

A Clinical Study of Orally Collagen Intake and Evaluation of the Effects on Human Skin Physiological Properties

Today, food supplements have become an indispensable part of a healthy and balanced life, and one of them, collagen supplements especially support the healthy skin structure and have many positive effects on it. The present study is aimed that evaluating the effects of PROFIN® Collagen on healthy skin conditions such as skin hydration, wrinkles, and elasticity. With this aim, we conducted a prospective, single-center, double-blind, randomized, placebo-controlled, 2-arm, parallel-design study to evaluate the effect of 12-week consumption of PROFIN® Collagen Hydrolysate on skin health. A total of 72 healthy female adults, aged between 40 and 65 with at least moderate eye wrinkles were randomized to receive 10 g of PROFIN® Collagen or placebo, once daily for 12 weeks. The majority (73(%)) of participants who took ‘Profin Collagen Hydrolysate’ had a statistical improvement (decrease) (p&lt;0,05) in mean wrinkle length at Day 42, this improvement continued at the end of the intervention. Furthermore, compared with the placebo group, in placebo group transepidermal water loss results show that there was a significant increase after 6, and 12 weeks of administration, but not in PROFIN® Collagen group. In conclusion, this study demonstrates that PROFIN® Collagen has a positive effect on skin wrinkles and water loss.

DISEASES OF THE AORTA IN PREGNANT WOMEN

Aortopathy in pregnant women is caused by genetically determined connective tissue dysplasia (Marfan, Ehlers–Danlos, Loyes–Dietz syndromes, etc.). The most severe complication is aortic aneurysm and its dissection with a probability of fatal outcome. The key to preventing this complication is frequent repeat imaging (ultrasound is the method of choice) and interdisciplinary collaboration, planning and coordination of antenatal care, labor management and postnatal care.