Skin fragility and wound management in Ehlers- Danlos Syndrome: a report by the Ehlers Danlos Syndrome society skin working group.

The Ehlers-Danlos Syndromes (EDS) are a heterogenous group of heritable connective tissue disorders, characterised by joint hypermobility, skin hyperextensibility and generalised tissue fragility. In all types of EDS skin wound healing is impaired to a variable degree. Additional support through wound management plans may help to improve these outcomes, however, there is paucity of evidence regarding clinical management of skin fragility and wounds in EDS. This paper aims to review current evidence and provide recommendations for management of skin wounds in EDS types. Preventative measures to avoid skin injury are strongly recommended, including avoidance of high impact sport and use of appropriate protection such as shin guards. Bruising is common and some types of EDS are associated with haematoma formation with management including compression bandages and consideration of pharmacological therapy. Skin fragility and tears should be managed with a focus on protection of remaining tissue, avoidance of wound tension and low adherence dressings to avoid further injury. This paper provides clear recommendations to address skin management for this group of patients. It highlights the lack of good quality published data to support treatment decisions.

Focus areas and methodological characteristics of North American-based health disparity research in sports medicine: a scoping review.

OBJECTIVE: Health disparities are widely prevalent; however, little has been done to examine and address their causes and effects in sports and exercise medicine (SEM). We aimed to summarise the focus areas and methodology used for existing North American health disparity research in SEM and to identify gaps in the evidence base. DESIGN: Scoping review. DATA SOURCES: Systematic literature search of PubMed, Scopus, SPORTDiscus, CINAHL Plus with Full Text, Web of Science Core Collection and Cochrane Central Register of Controlled Trials. ELIGIBILITY CRITERIA: Full-text, peer-reviewed manuscripts of primary research, conducted in North America; published in the year 2000 or after, in English; and focusing on organised sports were included. RESULTS: 103 articles met inclusion criteria. Articles were classified into five focus areas: access to and participation in sports (n=45), access to SEM care (n=28), health-related outcomes in SEM (n=24), provider representation in SEM (n=5) and methodology (n=1). Race/ethnicity (n=39), socioeconomic status (n=28) and sex (n=27) were the most studied potential causes of health disparities, whereas sexual orientation (n=5), location (rural/urban/suburban, n=5), education level (n=5), body composition (n=5), gender identity (n=4) and language (n=2) were the least studied. Most articles (n=74) were cross-sectional, conducted on youth (n=55) and originated in the USA (n=90). CONCLUSION: Health disparity research relevant to SEM in North America is limited. The overall volume and breadth of research required to identify patterns in a heterogeneous sports landscape, which can then be used to inform positive change, need expansion. Intentional research focused on assessing the intersectionality, causes and consequences of health disparities in SEM is necessary.

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

BACKGROUND: The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy. OBJECTIVES: To systematically review the cutaneous features and adjunct investigations of EDS. METHODS: A search of PubMed and Web of Science for EDS-related cutaneous features and additional investigations was undertaken from publication of the 2017 International Classification of EDS until January 15, 2022. RESULTS: One-hundred-and-forty studies involved 839 patients with EDS. The EDS female-to-male ratio was 1.36:1 (P < .001). A high prevalence of skin hyperextensibility, bruising, and soft skin were noted. Most patients with vascular Ehlers-Danlos syndrome showed venous visibility, skin fragility, and acrogeria. Classical EDS showed subcutaneous spheroids and molluscoid pseudotumours. In patients that underwent skin biopsies, only 30.3% and 71.4% showed features suggestive of EDS using light microscopy and transmission electron microscopy, respectively. LIMITATIONS: Retrospective study and small cases numbers for some EDS-subtypes. CONCLUSIONS: An accurate clinical diagnosis increases the chances of a molecular diagnosis, particularly for rarer EDS subtypes, whilst decreasing the need for genetic testing where there is a low clinical suspicion for a monogenic EDS-subtype.

Arthralgia in female Masters weightlifters.

BACKGROUND: Arthralgia or joint pain is a heterogeneous condition including organic and nonorganic joint pain. It is common in older populations, particularly in females. There is evidence that menopausal changes are associated with increased prevalence of arthralgia. While physical activities have been recommended to mitigate osteoarthritis (OA) and arthralgia, sport participation also carries risk factors due to excessive loading of some joints and possible injuries. The aim was to evaluate the association of training patterns, prior injuries, and severity of menopausal symptoms with arthralgia in female Masters weightlifters. METHODS: Competitive female Masters weightlifters (n=868, 30-78 years) from 30 countries completed an online survey including joint pain for different anatomical sites, weightlifting training and performance, sport history, and menopausal symptoms. Logistic regression models were used to estimate the association of training patterns, prior sport participation, and menopausal symptom severity with arthralgia separately for shoulders, spine, hips, knees, ankles, elbows, and hands. RESULTS: Arthralgia was most reported in knees (38.8%), shoulders (29.8%), hands/wrists (28.8%), and hips (24.9%). The prevalence of arthralgia was 51.5% in pre-menopausal women, 62.4% in women post natural menopause and 73.3% in women post medical or surgical menopause. Lifting heavier weights was associated with arthralgia in hips (OR=1.05, p=0.03), knees (OR=1.06, p=0.01), and hands/wrists (OR=1.05, p=0.04), but prior strength training was protective for arthralgia in the shoulders (OR=0.66, p=0.02). Prior injuries and psychological menopausal symptom severity were associated with an increased risk for arthralgia (p<0.01). CONCLUSIONS: Arthralgia was common in competitive female weightlifters. Training frequency was not associated with arthralgia, but lifting heavier weights relative to age and body mass was. Prior injuries and menopausal symptoms were associated with arthralgia, but prior strength training was protective of arthralgia in the shoulders. Athletes, coaches and sports medicine professionals should be aware that prevalence of polyarthralgia increases in post-menopausal athletes.

Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.

Early Sport Specialization in Elite Weightlifters: Weightlifting Injury Occurrence and Relevant Opinions.

ABSTRACT: Bush, CM, Wilhelm, AJ, Lavallee, ME, and Deitch, JR. Early sport specialization in elite weightlifters: weightlifting injury occurrence and relevant opinions. J Strength Cond Res 35(11): 3260-3264, 2021-Sports specialization has been associated with increased injury and burnout. This study sought to determine the age, rate of injury, influence to specialize, and opinions surrounding the impact of sports specialization in attainment of elite-level weightlifting status. A link to an anonymous survey was distributed to the top 20 weightlifters in each weight class (8 male and 7 female weight classes). The survey questioned athletes about both age and motivation to specialize, previous injuries and/or surgeries, and level of competition. Injuries and surgeries were compared between those who specialized at the Youth level (≤age 16), Junior level (ages 17-20), and nonspecialized weightlifters. One hundred forty-one athletes (47.0%) completed the survey. Sixteen subjects (11.3%) specialized at the Youth level, 18 (12.8%) specialized at the Junior level, and the remaining 107 (75.9%) did not specialize before age 21. There was a statistically significant difference in the occurrence of injury before age 21 between weightlifters specializing at the Youth level and those who did not specialize (Χ2(1) = 22.4, p < 0.0001). There were no statistically significant differences in serious injury after age 21 between groups. Weightlifters cited primarily themselves (45.4%) or coach (43.1%) as a driving influence to specialize. The majority of athletes (68.8%) felt that specializing during the Youth age group was not necessary to achieve elite status. Despite a relatively small sample size, injuries occurred more frequently in weightlifters specializing at younger ages, suggesting that risks associated with early sport specialization also apply to weightlifters. These risks should be considered before implementing an early specialization training regimen.

Ehlers-Danlos syndrome, classical type.

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research. The authors recognized that the criteria would need updating, but viewed the Villefranche nosology as a good starting point. Since 1997, there have been major advances in the molecular understanding of classical EDS. Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are the cause. Advances in molecular testing have made it possible to identify the causative mutation in the majority of patients. This has aided the further clarification of this diagnosis. The aim of this literature review is to summarize the current knowledge and highlight areas for future research. © 2017 Wiley Periodicals, Inc.

The 2017 international classification of the Ehlers-Danlos syndromes.

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.

American Medical Society for Sports Medicine recommended sports ultrasound curriculum for sports medicine fellowships.

The American Medical Society for Sports Medicine (AMSSM) developed a musculoskeletal ultrasound curriculum for sports medicine fellowships in 2010. As the use of diagnostic and interventional ultrasound in sports medicine has evolved, it became clear that the curriculum needed to be updated. Furthermore, the name 'musculoskeletal ultrasound' was changed to 'sports ultrasound' (SPORTS US) to reflect the broad range of diagnostic and interventional applications of ultrasound in sports medicine. This document was created to outline the core competencies of SPORTS US and to provide sports medicine fellowship directors and others interested in SPORTS US education with a guide to create a SPORTS US curriculum. By completing this SPORTS US curriculum, sports medicine fellows and physicians can attain proficiency in the core competencies of SPORTS US required for the practice of sports medicine.

American Medical Society for Sports Medicine recommended sports ultrasound curriculum for sports medicine fellowships.

The following sports ultrasound (SPORTS US) curriculum is a revision of the curriculum developed by the American Medical Society for Sports Medicine (AMSSM) in 2010. Several changes have been made to the curriculum with the primary aim of providing a pathway by which a sports medicine fellow can obtain sufficient SPORTS US training to become proficient in the core competencies of SPORTS US. The core competencies of SPORTS US are outlined in the learning objectives section of this document. The term "SPORTS US" was purposefully chosen rather than "musculoskeletal ultrasound" (MSK US) because it was recognized by the panel that the evolving field of SPORTS US encompasses non-MSK applications of ultrasound such as the FAST examination (focused assessment with sonography for trauma). Although the SPORTS US core competencies in this curriculum are all MSK in nature, they represent the minimum SPORTS US knowledge a sports medicine fellow should acquire during fellowship. However, additional training in more advanced MSK and non-MSK applications of ultrasound can be provided at the fellowship director's discretion. Completion of this SPORTS US curriculum fulfills the American Institute of Ultrasound in Medicine's (AIUM) requirements to perform an MSK US examination and the prerequisites for the American Registry for Diagnostic Medical Sonography's (ARDMS) MSK sonography certification examination.

Syndromic scoliosis in a patient with arthrochalasia Ehlers-Danlos syndrome corrected with a Wood-Rigo-Cheneau derotational brace.

We present a boy in middle childhood with a medical history of arthrochalasiaEhlers-Danlos syndrome who was diagnosed with scoliosis as a toddler. His treatment began at a regional children's hospital, where initial spine radiographs demonstrated a 43.6° dextroscoliosis curve with the apex at L3. He was initially treated with a Boston brace, and the family was informed that MAGEC (Magnetic Expansion Control) growing rods were likely the definitive treatment due to the high likelihood of progression given the patient's large Cobb angle. However, the decision was made by the family and the Ehlers-Danlos syndrome specialist to proceed with the Wood-Rigo-Cheneau derotational brace.

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in Kallikrein-15 (KLK15 p. Gly226Asp), segregated with disease in two families and genetic burden analyses of 197 sporadic hEDS patients revealed enrichment of variants within the Kallikrein gene family. To validate pathogenicity, the variant identified in familial studies was used to generate knock-in mice. Consistent with our clinical cohort, Klk15 G224D/+ mice displayed structural and functional connective tissue defects within multiple organ systems. These findings support Kallikrein gene variants in the pathogenesis of hEDS and represent an important step towards earlier diagnosis and better clinical outcomes.

The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition. Furthermore, cutaneous features can be the first and/or only presenting feature in some cases of EDS and thus understanding these signs is vital for diagnosis. This review focuses on particular cutaneous features of each EDS subtype and their clinical importance. Provision of a specific diagnosis is important for management, prognosis and genetic counselling, often for family members beyond the individual.

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Introduction: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable fragility to skin, soft tissue, and certain internal organs, which can cause significant complications, particularly arterial rupture, bowel perforation and joint difficulties. Currently, there are 14 proposed subtypes of EDS, with all except one subtype (hypermobile EDS) having an identified genetic etiology. An understanding of the extracutaneous features and complications within each subtype is key to maximizing clinical care and reducing the risk of further complications. Methods: A systematic review of EDS-related extracutaneous features and complications was undertaken. Results: We identified 839 EDS cases that met the inclusion criteria. We noted a high prevalence of joint hypermobility amongst kyphoscoliotic (39/39, 100%), spondylodysplastic (24/25, 96.0%), and hypermobile (153/160, 95.6%) EDS subtypes. The most common musculoskeletal complications were decreased bone density (39/43, 90.7%), joint pain (217/270, 80.4%), and hypotonia/weakness (79/140, 56.4%). Vascular EDS presented with cerebrovascular events (25/153, 16.3%), aneurysm (77/245, 31.4%), arterial dissection/rupture (89/250, 35.5%), and pneumothorax/hemothorax. Chronic pain was the most common miscellaneous complication, disproportionately affecting hypermobile EDS patients (139/157, 88.5%). Hypermobile EDS cases also presented with chronic fatigue (61/63, 96.8%) and gastrointestinal complications (57/63, 90.5%). Neuropsychiatric complications were noted in almost all subtypes. Discussion: Understanding the extracutaneous features and complications of each EDS subtype may help diagnose and treat EDS prior to the development of substantial comorbidities and/or additional complications. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022308151, identifier CRD42022308151.

Ultrasound-Guided Percutaneous Tenotomy and Its Associated Pain Reduction and Functionality Outcomes in Nonelite Active Adults.

OBJECTIVE: The aim of this study was to evaluate changes in pain and functionality after ultrasound-guided percutaneous tenotomy (USGPT) for treatment of tendinopathy. DESIGN: This was a prospective cohort study of patients undergoing USGPT as an alternative to surgery. Nonelite, active adults completed pain and functionality assessments before USGPT. The visual analog scale (VAS) was used to quantify pain. The Lower Extremity Functionality Scale and the Disabilities of the Arm, Shoulder, and Hand were used to evaluate functionality. Repeat VAS scores were obtained at 1 wk, 1 mo, 2 mos, 3 mos, 6 mos, and 1 yr postprocedure, and repeat functionality assessments, at 1 yr postprocedure. Changes in VAS and functionality were analyzed with paired-sample t-tests. RESULTS: A total of 103 subjects (61 women, 42 men) underwent USGPT in the following tendons: Achilles, patellar, plantar fascia, flexor carpi ulnaris, extensor carpi radialis brevis, and supraspinatus. Subjects experienced statistically significant decreases in VAS and functionality scores at all time points. The mean VAS score decreased from 7.3 to 3.8 (P < 0.0001) 1 wk postprocedure, with a 5.8-point mean decrease at 1 yr (P < 0.0001). Lower Extremity Functionality Scale scores improved from 42.5 to 65.8 (P < 0.001) and Disabilities of the Arm, Shoulder, and Hand scores improved from 41.5 to 10.4 (P < 0.001) at 1 yr. CONCLUSION: Recipients of USGPT procedures can expect to benefit from less invasive procedures and improved pain and functionality without invasive surgical procedures.

Musculoskeletal ultrasound education for sports medicine fellows: a suggested/potential curriculum by the American Medical Society for Sports Medicine.

The following musculoskeletal ultrasound (MSK US) curriculum was developed by the American Medical Society for Sports Medicine (AMSSM) to provide a pathway by which a sports medicine fellow can obtain adequate MSK US training during their fellowship to meet the requirements of competency outlined by the American Institute of Ultrasound in Medicine (AIUM) Training Guidelines for the Performance of MSK US Examination. Many fellowship programmes may not be able to follow all of the recommendations outlined by this document owing to their available resources. However, this curriculum can be used as a suggested/potential guideline for MSK US training within a sports medicine fellowship, and may assist programmes in developing or modifying their own internal training methods.

An overview of strength training injuries: acute and chronic.

This article introduces the history of strength training, explains the many different styles of strength training, and discusses common injuries specific to each style. Strength training is broken down into five disciplines: basic strength or resistance training, bodybuilding, power lifting, style-dependant strength sports (e.g., strongman competitions, Highland games, field events such as shot put, discus, hammer throw, and javelin), and Olympic-style weightlifting. Each style has its own principal injuries, both acute and chronic, related to the individual technique. Acute injuries should be further categorized as emergent or nonemergent. Specific age-related populations (i.e., the very young and the aging athlete) carry additional considerations.

Factors Influencing Work-Life Balance in Physicians and Advance Practice Clinicians and the Effect of Heartfulness Meditation Conference on Burnout.

BACKGROUND: Burnout levels have risen in recent years and satisfaction with work-life balance has decreased. Individual and organizational factors may affect burnout in physicians and advance practice clinicians (APCs). Meditation is a tool to mitigate stress and enhance well-being. In this study, we assessed the factors affecting work-life balance in physicians and APCs. We also measured the impact of Heartfulness meditation conference on burnout. METHODS: Physicians and APCs were surveyed through an abbreviated Maslach burnout inventory (aMBI) to assess the burnout levels and a question to assess the factors influencing work-life balance. Wellness initiatives included either attending a Heartfulness meditation conference or reading a book about burnout and wellness (approximated at a 3-h read). A repeat aMBI survey was sent 8 weeks after the conference. Pre- and postburnout scores were assessed. RESULTS: Of the 1393 physicians and APCs, 537 responded to the aMBI, and there were 414 comments (663 factors) for the question on work-life balance. Among the respondents, 60.5% and 32% had symptoms of moderate to severe emotional exhaustion (EE) and depersonalization, respectively. Twenty-eight percent of the respondents had symptoms of moderate to low personal accomplishment. The major factors impacting work-life balance included work load, work flow, and scheduling. A follow-up aMBI survey was completed by 79 from the conference group and 264 from the nonconference group. In the age-group between 30 and 50 for the conference group (n = 40), mean EE decreased from 9.8 to 8.6 with statistical significance (P = .014). There was no statistically significant change in the nonconference group in any age-group. CONCLUSION: Workload, workflow, and scheduling issues were the major factors affecting work-life balance. There is a significant level of burnout in physicians and APCs. Heartfulness meditation conference was associated with a significant decrease in EE in those aged 30 to 50 years. There was no significant change seen in the nonconference/book reading group.

Ehlers-Danlos syndrome in athletes.

Ehlers-Danlos syndrome (EDS) should be considered in the evaluation of the hypermobile athlete. EDS is a group of inheritable connective tissue disorders affecting collagen and is characterized by articular hypermobility, skin extensibility, and tissue fragility. The most common findings in the active athlete are joint pain or instability, tissue fragility, or joint dislocations. Other common findings include "cigarette paper" scarring over bony prominences, pes planus, mitral valve prolapse, hyperelastic thin skin, and internal organ involvement. The vascular type has an increased risk of sudden death secondary to catastrophic events such as aortic or visceral rupture. Although there are some genetic laboratory tests currently available, a careful history and physical examination are most helpful in diagnosing athletes with this disorder. Previous classification systems were confusing, but the 1997 revised nosology simplified the classification of EDS into six types (three major, three minor). Preparticipation cardiothoracic and orthopedic screening is highly recommended for athletes with EDS, and appropriate cardiovascular, orthopedic, gastrointestinal, neurologic, and dermatologic management can often allow patients with EDS to remain active.