[Temporomandibular disorders and Ehlers-Danlos syndrome, hypermobility type: A case-control study].

PubMed

Diep, D; Fau, V; Wdowik, S; Bienvenu, B; Bénateau, H; Veyssière, A

2016-09-01

The Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is a rare genetic disease. Diagnosis is based on a combination of clinical criteria described in the classification of Villefranche. Diagnosis is difficult to make because of the lack of specific clinical signs and the absence of genetic testing. The EDS-TH manifests itself manly by musculoskeletal pain and joint hypermobility. Temporomandibular disorders (TMD) are also reported. Our aim was to objectify the presence and to qualify the type of TMD associated with the EDS-HT in order to propose an additional diagnostic argument. A prospective, monocenter case-control study, comparing a cohort of patients suffering from EDS-HT to a paired control group of healthy volunteers has been conducted. Clinical examination was standardized, including a general questioning, an oral examination and a temporomandibular joint examination following the TMD/RDC (temporomandibular disorders/research diagnostic criteria). Fourteen EDS-HT patients and 58 control patients were examined. The prevalence of TMDs (n=13; 92.9% vs. n=4; 6.9%; P=10(-11)) was significantly higher in the EDS-HT group. TMDs occurring in the EDS-HT group were complex, combining several mechanisms in contrast to the control group, where only one mechanism was found in all the patients (n=13; 92.9% vs. n=0; 0.0%). TMDs are strongly associated with RDS-HT. TMDs could therefore be used in the diagnosis of this disease. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

PubMed

Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

2017-11-10

To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38-5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication - knowledge, experience and safety. Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

PubMed

Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

2018-03-05

To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

PubMed

Baeza-Velasco, Carolina; Sinibaldi, Lorenzo; Castori, Marco

2018-02-14

Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome. A comprehensive search of scientific databases and references lists was conducted, encompassing publications based on qualitative and quantitative research. Impaired coordination and proprioception, fatigue, chronic pain, and dysautonomia are identified as potential bridges between ADHD and JH. Based on these findings, a map of the pathophysiological and psychopathological pathways connecting both conditions is proposed. Although ADHD and JH are traditionally separated human attributes, their association may testify for the dyadic nature of mind-body connections during critical periods of post-natal development. Such a mixed picture has potentially important consequences in terms of disability and deserves more clinical and research attention.

Effects of neoprene wrist/hand splints on handwriting for students with joint hypermobility syndrome: a single system design study.

PubMed

Frohlich, Lauren; Wesley, Alison; Wallen, Margaret; Bundy, Anita

2012-08-01

Pain associated with hypermobility of wrist and hand joints can contribute to decreased handwriting output. This study examined the effectiveness of a neoprene wrist/hand splint in reducing pain and increasing handwriting speed and endurance for students with joint hypermobility syndrome. Multiple baseline, single system design (SSD) methodology was used. Four ninth grade students with handwriting difficulties because of joint hypermobility syndrome participated in this study. Visual and statistical (two standard deviation band method) analyses indicated a significant decrease in handwriting speed when using the splint for three out of four participants. No significant change in pain or endurance was noted during intervention. There was a significant decrease in pain following withdrawal of the splint for three participants. Evidence from this study does not support use of this particular splint for decreasing pain and increasing handwriting speed and endurance for ninth grade students with joint hypermobility syndrome.

Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type: A Kinematic and Kinetic Evaluation Using 3D Gait Analysis

ERIC Educational Resources Information Center

Galli, Manuela; Cimolin, Veronica; Rigoldi, Chiara; Castori, Marco; Celletti, Claudia; Albertini, Giorgio; Camerota, Filippo

2011-01-01

The aim of this study was to quantify the gait patterns of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome (JHS/EDS-HT) hypermobility type, using Gait Analysis. We quantified the gait strategy in 12 JHS/EDS-HT adults individuals (age: 43.08 + 6.78 years) compared to 20 healthy controls (age: 37.23 plus or minus 8.91 years), in…

Effects of Neoprene Wrist/Hand Splints on Handwriting for Students with Joint Hypermobility Syndrome: A Single System Design Study

ERIC Educational Resources Information Center

Frohlich, Lauren; Wesley, Alison; Wallen, Margaret; Bundy, Anita

2012-01-01

Purpose: Pain associated with hypermobility of wrist and hand joints can contribute to decreased handwriting output. This study examined the effectiveness of a neoprene wrist/hand splint in reducing pain and increasing handwriting speed and endurance for students with joint hypermobility syndrome. Methods: Multiple baseline, single system design…

The neuromuscular differential diagnosis of joint hypermobility.

PubMed

Donkervoort, S; Bonnemann, C G; Loeys, B; Jungbluth, H; Voermans, N C

2015-03-01

Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. © 2015 Wiley Periodicals, Inc.

Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties.

PubMed

Celletti, Claudia; Mari, Giorgia; Ghibellini, Giulia; Celli, Mauro; Castori, Marco; Camerota, Filippo

2015-03-01

Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS-HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM. All patients were screened for Beighton score and a set of neuropsychological tests for motor competences (Movement Assessment Battery for Children and Visual-Motor Integration tests), and language and learning difficulties (Linguistic Comprehension Test, Peabody Picture Vocabulary Test, Boston Naming Test, Bus Story Test, and Memoria-Training tests). All patients were also screening for selected JHS/EDS-HT-associated features and swallowing problems. Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%). This study confirms the non-causal association between DCD and gJHM, which, in turn, seems to increase the risk for non-random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system. © 2015 Wiley Periodicals, Inc.

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

PubMed

Rombaut, Lies; Deane, Janet; Simmonds, Jane; De Wandele, Inge; De Paepe, Anne; Malfait, Fransiska; Calders, Patrick

2015-03-01

Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed. © 2015 Wiley Periodicals, Inc.

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

PubMed

Celletti, Claudia; Camerota, Filippo; Castori, Marco; Censi, Federica; Gioffrè, Laura; Calcagnini, Giovanni; Strano, Stefano

2017-01-01

Background . Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods . The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group. Results . Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls. Conclusions. This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings.

PubMed

Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Almqvist, Catarina; Serlachius, Eva; Ludvigsson, Jonas F

2016-07-04

To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2-10.7; bipolar disorder: RR 2.7, CI 1.5-4.7; ADHD: RR 5.6, CI 4.2-7.4; depression: RR 3.4, 95 % CI 2.9-4.1; and attempted suicide: RR 2.1, 95 % CI 1.7-2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4-3.3; depression: RR 1.5, 95 % CI 1.1-1.8; and suicide attempt: RR 1.8, 95 % CI 1.4-2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders.

Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

ERIC Educational Resources Information Center

Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

2012-01-01

People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

PubMed

Sinibaldi, Lorenzo; Ursini, Gianluca; Castori, Marco

2015-03-01

Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice. © 2015 Wiley Periodicals, Inc.

Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.

PubMed

Baeza-Velasco, Carolina; Bulbena, Antonio; Polanco-Carrasco, Roberto; Jaussaud, Roland

2018-01-22

Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology. Review of the literature on joint hypermobility and EDS hypermobility-type concerning psychological factors linked to pain chronicity and disability. A comprehensive search was performed using scientific online databases and references lists, encompassing publications reporting quantitative and qualitative research as well as unpublished literature. Despite scarce research, psychological factors associated with EDS hypermobility-type that potentially affect pain chronicity and disability were identified. These are cognitive problems and attention to body sensations, negative emotions, and unhealthy patterns of activity (hypo/hyperactivity). As in other chronic pain conditions, these aspects should be more explored in EDS hypermobility-type, and integrated into chronic pain prevention and management programs. Implications for Rehabilitation Clinicians should be aware that joint hypermobility may be associated with other health problems, and in its presence suspect a heritable disorder of connective tissue such as the Ehlers-Danlos syndrome (EDS) hypermobility-type, in which chronic pain is one of the most frequent and invalidating symptoms. It is necessary to explore the psychosocial functioning of patients as part of the overall chronic pain management in the EDS hypermobility-type, especially when they do not respond to biomedical approaches as psychological factors may be operating against rehabilitation. Further research on the psychological factors linked to pain chronicity and disability in the EDS hypermobility-type is needed.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

PubMed

Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes. © 2015 Wiley Periodicals, Inc.

The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type

PubMed Central

Camerota, Filippo; Galli, Manuela; Celletti, Claudia; Ancillao, Andrea; Blow, David; Albertini, Giorgio

2015-01-01

Objective: In this case study, biomechanical alterations induced by neuromuscular taping (NMT) were quantified, during walking, in a patient with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS-HT). Methods: A female JHS/EDS-HT patient underwent NMT applications over the low back spine and bilaterally to the knee. Quantitative gait analyses were collected before the NMT application and at the end of the treatment (2 weeks after the first application of NMT). Results: At the end of treatment following the NMT application, left step length showed improvements in cadence and velocity, the left knee showed a reduction in its flexed position at initial contact, and the right ankle joint improved its position at initial contact and in the swing phase. Improvements were also found in kinetics, in terms of the ankle moment and power. Conclusions: Results show that NMT seems to be a promising low-cost intervention for improving gait strategy in patients with JHS/EDS-HT. Further investigations are needed to assess the effects of this treatment intervention on pathological symptoms. PMID:25649985

The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

PubMed

Camerota, Filippo; Galli, Manuela; Cimolin, Veronica; Celletti, Claudia; Ancillao, Andrea; Blow, David; Albertini, Giorgio

2015-02-01

In this case study, biomechanical alterations induced by neuromuscular taping (NMT) were quantified, during walking, in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). A female JHS/EDS-HT patient underwent NMT applications over the low back spine and bilaterally to the knee. Quantitative gait analyses were collected before the NMT application and at the end of the treatment (2 weeks after the first application of NMT). At the end of treatment following the NMT application, left step length showed improvements in cadence and velocity, the left knee showed a reduction in its flexed position at initial contact, and the right ankle joint improved its position at initial contact and in the swing phase. Improvements were also found in kinetics, in terms of the ankle moment and power. Results show that NMT seems to be a promising low-cost intervention for improving gait strategy in patients with JHS/EDS-HT. Further investigations are needed to assess the effects of this treatment intervention on pathological symptoms.

Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge

PubMed Central

Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul HH

2015-01-01

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3). PMID:26316810

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

PubMed

Scheper, Mark C; de Vries, Janneke E; Verbunt, Jeanine; Engelbert, Raoul Hh

2015-01-01

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Paleopathological interpretations of hypermobility syndrome in the art from ancient America.

PubMed

Checa, Angel

2012-10-01

Paleopathological representations of hypermobility syndrome were assumed in pre-Columbian artifacts from different ancient civilizations from America. Anthropomorphic sculptures from several museums and galleries visited on site or thru Internet show the human figure in contorted positions. These positions are only possible within well-trained individuals or persons with hyperextensibility of the joints.

Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis.

PubMed

Scheper, M C; Pacey, V; Rombaut, L; Adams, R D; Tofts, L; Calders, P; Nicholson, L L; Engelbert, R H H

2017-03-01

Lowered pressure-pain thresholds have been demonstrated in adults with Ehlers-Danlos syndrome hypermobility type (EDS-HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS-HT, explore potential differences in pressure-pain thresholds between children and adults with HMS/EDS-HT, and determine the discriminative value of generalized hyperalgesia. Patients were classified in 1 of 3 groups: HMS/EDS-HT, hypermobile (Beighton score ≥4 of 9), and healthy controls. Descriptive data of age, sex, body mass index, Beighton score, skin laxity, and medication usage were collected. Generalized hyperalgesia was quantified by the average pressure-pain thresholds collected from 12 locations. Confounders collected were pain locations/intensity, fatigue, and psychological distress. Comparisons between children with HMS/EDS-HT and normative values, between children and adults with HMS/EDS-HT, and corrected confounders were analyzed with multivariate analysis of covariance. The discriminative value of generalized hyperalgesia employed to differentiate between HMS/EDS-HT, hypermobility, and controls was quantified with logistic regression. Significantly lower pressure-pain thresholds were found in children with HMS/EDS-HT compared to normative values (range -22.0% to -59.0%; P ≤ 0.05). When applying a threshold of 30.8 N/cm 2 for males and 29.0 N/cm 2 for females, the presence of generalized hyperalgesia discriminated between individuals with HMS/EDS-HT, hypermobility, and healthy controls (odds ratio 6.0). Children and adults with HMS/EDS-HT are characterized by hypermobility, chronic pain, and generalized hyperalgesia. The presence of generalized hyperalgesia may indicate involvement of the central nervous system in the development of chronic pain. © 2016, American College of Rheumatology.

Emotion processing in joint hypermobility: A potential link to the neural bases of anxiety and related somatic symptoms in collagen anomalies.

PubMed

Mallorquí-Bagué, N; Bulbena, A; Roé-Vellvé, N; Hoekzema, E; Carmona, S; Barba-Müller, E; Fauquet, J; Pailhez, G; Vilarroya, O

2015-06-01

Joint hypermobility syndrome (JHS) has repeatedly been associated with anxiety and anxiety disorders, fibromyalgia, irritable bowel syndrome and temporomandibular joint disorder. However, the neural underpinnings of these associations still remain unclear. This study explored brain responses to facial visual stimuli with emotional cues using fMRI techniques in general population with different ranges of hypermobility. Fifty-one non-clinical volunteers (33 women) completed state and trait anxiety questionnaire measures, were assessed with a clinical examination for hypermobility (Beighton system) and performed an emotional face processing paradigm during functional neuroimaging. Trait anxiety scores did significantly correlate with both state anxiety and hypermobility scores. BOLD signals of the hippocampus did positively correlate with hypermobility scores for the crying faces versus neutral faces contrast in ROI analyses. No results were found for any of the other studied ROIs. Additionally, hypermobility scores were also associated with other key affective processing areas (i.e. the middle and anterior cingulate gyrus, fusiform gyrus, parahippocampal region, orbitofrontal cortex and cerebellum) in the whole brain analysis. Hypermobility scores are associated with trait anxiety and higher brain responses to emotional faces in emotion processing brain areas (including hippocampus) described to be linked to anxiety and somatic symptoms. These findings increase our understanding of emotion processing in people bearing this heritable variant of collagen and the mechanisms through which vulnerability to anxiety and somatic symptoms arises in this population. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

PubMed Central

Castori, Marco

2012-01-01

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists. PMID:23227356

A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report.

PubMed

Pennetti, Adelina

2018-07-01

The purpose of this case report is to present a multimodal approach for patient management using the Maitland concept framework for cervical and lumbar radiculitis with an underlying diagnosis of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT). This case presents care guided by evidence, patient values, and rationale for the selected course of physical therapy treatment provided by therapist experience. A 35-year-old female with a 2-year history of worsening lumbar and cervical pain was referred to physical therapy to address these musculoskeletal issues concurrent with diagnostic testing for EDS. A multimodal approach including manual therapy, therapeutic exercise, postural and body mechanics education, and a home exercise program was used. The patient specific functional scale (PSFS) was used to gauge patient's perceived improvements which were demonstrated by increased scores at reevaluation and at discharge. Following the Maitland concept framework, the physical therapist was able to make sound clinical decisions by tracking the logical flow of constant patient assessment. A 10-month course of treatment designed to maximize recovery of function was successful with a chronic history of pain and the EDS-HT diagnosis. The role of education and empowering the patient is shown to be of utmost importance. Optimizing therapeutic outcomes long-term for this patient population requires maintaining a home exercise program, adaptation and modifications of work and lifestyle activities.

Measuring Regularity of Human Postural Sway Using Approximate Entropy and Sample Entropy in Patients with Ehlers-Danlos Syndrome Hypermobility Type

ERIC Educational Resources Information Center

Rigoldi, Chiara; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Mainardi, Luca; Galli, Manuela

2013-01-01

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the…

Hypermobility and injuries in a professional ballet company.

PubMed Central

Klemp, P.; Learmonth, I. D.

1984-01-01

A study was conducted on members of the Cape Performing Arts Board (CAPAB) professional ballet company to determine the prevalence of hypermobility and to document the injuries sustained over a ten year period. If forward flexion, which is acquired through training, is excluded as a parameter the difference in hypermobility between dancers and controls is not statistically significant. Considering the stresses imposed on the musculoskeletal system, the number of injuries was surprisingly low. Ligamentous injuries about the ankle and knee were both common and accounted for the major morbidity. There were minor differences in the nature and severity of injuries in the male and female dancers. Back injuries, fractures and osteoarthrosis were uncommon and shin splints was not recorded in any of the dancers. Images p143-a p143-b Figure 1 Figure 2 Figure 3 PMID:6435713

[Two cases of rehabilitation in Ehler-Danlos syndrome].

PubMed

Le Tallec, H; Lassalle, A; Khenioui, H; Durufle, A; Plassat, R; Gallien, P

2006-03-01

Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome.

PubMed

Bovet, Claire; Carlson, Matthew; Taylor, Matthew

2016-08-01

Ehlers-Danlos Syndrome, hypermobility type (EDS-HT) and the joint hypermobility syndrome (JHS) are connective tissue disorders that form an overlapping clinical syndrome and are associated with frequent medical visits and substantial morbidity. EDS-HT/JHS-associated pain correlates with poor quality of life. While physical therapy is the recommended treatment for EDS-HT/JHS, little is known about therapy-related patient experiences and iatrogenic injuries. We studied 38 adult EDS-HT/JHS patients, eliciting health-related quality of life (HRQoL) from 28 patients through the RAND SF-36 questionnaire. We also explored physical therapy experiences through focus groups with 13 patients. Our patients displayed poor HRQoL, with 71% reporting worse health over the past year. SF-36 scores were significantly lower than the scores of the average American population (P < 0.001 for 8 of 10 categories assessed), but were comparable to EDS-HT/JHS populations in Belgium, the Netherlands, Sweden, and Italy. Focus groups identified factors associated with: negative past physical therapy experiences, iatrogenic joint injuries, positive treatment experiences, and unmet rehabilitation needs. This group of EDS-HT/JHS patients has significant decrements in HRQoL and many unmet treatment needs, as well as a risk for iatrogenic injuries. We identify several approaches to help meet patients' needs and improve joint rehabilitation in patients with EDS-HT/JHS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

PubMed

Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco; Venturini, Marina; Castori, Marco; Colombi, Marina

2016-01-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci. In order to help in deciphering such a complex molecular background, we carried out a comprehensive immunofluorescence analysis and gene expression profiling in cultured skin fibroblasts from five women affected with JHS/EDS-HT. Protein study revealed disarray of several matrix structural components such as fibrillins, tenascins, elastin, collagens, fibronectin, and their integrin receptors. Transcriptome analysis indicated perturbation of different signaling cascades that are required for homeostatic regulation either during development or in adult tissues as well as altered expression of several genes involved in maintenance of extracellular matrix architecture and homeostasis (e.g., SPON2, TGM2, MMP16, GPC4, SULF1), cell-cell adhesion (e.g., CDH2, CHD10, PCDH9, CLDN11, FLG, DSP), immune/inflammatory/pain responses (e.g., CFD, AQP9, COLEC12, KCNQ5, PRLR), and essential for redox balance (e.g., ADH1C, AKR1C2, AKR1C3, MAOB, GSTM5). Our findings provide a picture of the gene expression profile and dysregulated pathways in JHS/EDS-HT skin fibroblasts that correlate well with the systemic phenotype of the patients.

Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms.

PubMed

Lee, Michelle; Strand, Mattias

2018-03-01

The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa. Because of the large clinical heterogeneity, correctly identifying symptoms of EDS presents a challenge for clinicians, who should be aware of this group of underdiagnosed and potentially serious syndromes. The Beighton Hypermobility Score is an easily applicable screening instrument in assessing potential EDS in patients with joint hypermobility. © 2017 Wiley Periodicals, Inc.

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

PubMed

Castori, Marco

2015-12-01

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

Alterations in neuromuscular function in girls with generalized joint hypermobility.

PubMed

Jensen, Bente Rona; Sandfeld, Jesper; Melcher, Pia Sandfeld; Johansen, Katrine Lyders; Hendriksen, Peter; Juul-Kristensen, Birgit

2016-10-03

Generalized Joint Hypermobility (GJH) is associated with increased risk of musculoskeletal joint pain. We investigated neuromuscular performance and muscle activation strategy. Girls with GJH and non-GJH (NGJH) performed isometric knee flexions (90°,110°,130°), and extensions (90°) at 20 % Maximum Voluntary Contraction, and explosive isometric knee flexions while sitting. EMG was recorded from knee flexor and extensor muscles. Early rate of torque development was 53 % faster for GJH. Reduced hamstring muscle activation in girls with GJH was found while knee extensor and calf muscle activation did not differ between groups. Flexion-extension and medial-lateral co-activation ratio during flexions were higher for girls with GJH than NGJH girls. Girls with GJH had higher capacity to rapidly generate force than NGJH girls which may reflect motor adaptation to compensate for hypermobility. Higher medial muscle activation indicated higher levels of medial knee joint compression in girls with GJH. Increased flexion-extension co-activation ratios in GJH were explained by decreased agonist drive to the hamstrings.

Evaluation of posture and pain in persons with benign joint hypermobility syndrome.

PubMed

Booshanam, Divya S; Cherian, Binu; Joseph, Charles Premkumar A R; Mathew, John; Thomas, Raji

2011-12-01

The objective of the present study is to compare and quantify the postural differences and joint pain distribution between subjects with benign joint hypermobility syndrome (BJHS) and the normal population. This observational, non-randomized, and controlled study was conducted at Rheumatology and Physical Medicine and Rehabilitation Medicine Departments of a tertiary care teaching hospital. Subjects comprise 35 persons with diagnosis of BJHS, and the control group was matched for age and sex. Reedco's Posture score (RPS) and visual analogue scale (VAS) were the outcome measures. The subjects were assessed for pain in ten major joints and rated on a VAS. A standard posture assessment was conducted using the Reedco's Posture score. The same procedure was executed for an age- and sex-matched control group. Mean RPS for the BJHS group was 55.29 ± 8.15 and for the normal group it was 67 ± 11.94. The most common postural deviances in subjects with BJHS were identified in the following areas of head, hip (Sagittal plane), upper back, trunk, and lower back (Coronal plane). Intensity of pain was found to be more in BJHS persons than that of the normal persons, and the knee joints were the most affected. The present study compared and quantified the postural abnormalities and the pain in BJHS persons. The need for postural re-education and specific assessment and training for the most affected joints are discussed. There is a significant difference in posture between subjects with BJHS and the normal population. BJHS persons need special attention to their posture re-education during physiotherapy sessions to reduce long-term detrimental effects on the musculoskeletal system.

Neurovisceral phenotypes in the expression of psychiatric symptoms

PubMed Central

Eccles, Jessica A.; Owens, Andrew P.; Mathias, Christopher J.; Umeda, Satoshi; Critchley, Hugo D.

2015-01-01

This review explores the proposal that vulnerability to psychological symptoms, particularly anxiety, originates in constitutional differences in the control of bodily state, exemplified by a set of conditions that include Joint Hypermobility, Postural Tachycardia Syndrome and Vasovagal Syncope. Research is revealing how brain-body mechanisms underlie individual differences in psychophysiological reactivity that can be important for predicting, stratifying and treating individuals with anxiety disorders and related conditions. One common constitutional difference is Joint Hypermobility, in which there is an increased range of joint movement as a result of a variant of collagen. Joint hypermobility is over-represented in people with anxiety, mood and neurodevelopmental disorders. It is also linked to stress-sensitive medical conditions such as irritable bowel syndrome, chronic fatigue syndrome and fibromyalgia. Structural differences in “emotional” brain regions are reported in hypermobile individuals, and many people with joint hypermobility manifest autonomic abnormalities, typically Postural Tachycardia Syndrome. Enhanced heart rate reactivity during postural change and as recently recognized factors causing vasodilatation (as noted post-prandially, post-exertion and with heat) is characteristic of Postural Tachycardia Syndrome, and there is a phenomenological overlap with anxiety disorders, which may be partially accounted for by exaggerated neural reactivity within ventromedial prefrontal cortex. People who experience Vasovagal Syncope, a heritable tendency to fainting induced by emotional challenges (and needle/blood phobia), are also more vulnerable to anxiety disorders. Neuroimaging implicates brainstem differences in vulnerability to faints, yet the structural integrity of the caudate nucleus appears important for the control of fainting frequency in relation to parasympathetic tone and anxiety. Together there is clinical and neuroanatomical evidence to show that common constitutional differences affecting autonomic responsivity are linked to psychiatric symptoms, notably anxiety. PMID:25713509

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

PubMed Central

Castori, Marco; C. Voermans, Nicol

2014-01-01

The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PubMed

Knight, Isobel

2015-03-01

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a hereditary connective tissue disorder affecting every bodily system. It is largely underdiagnosed by many practitioners, with the result of a considerable delay in diagnosis and, consequently, in the onset of adequate management schedule and treatment. Patients may also experience to be misbelieved, erroneously considered affected by a psychiatric or psychosomatic disorders, and rejected by the medical profession, which can lead to feelings of anger and resentment. Patient journeys are often long and complicated, but if doctors allowed the patient time to tell the full story, and were more prepared to think holistically, there may be a far more positive outcome. Here, the patients' perspective is presented with a narrative medicine approach, illustrating the tri-dimensional experience of a JHS/EDS-HT patient, who is also a Bowen Practitioner and a medical writer/educator. Narrative medicine would be invaluable in working with JHS/EDS-HT so that the patient can tell the story, and offer the practitioner a whole picture of her/his suffering and, often, the key for understanding the cause(s). Once this has been achieved, it might be possible to build upon a more positive and therapeutic dialogue which would result in better treatment and more effective management. It is also important for doctors to communicate with JHS/EDS-HT experts who will ultimately improve the patient journey and treatment outcomes of such a complex connective tissue disorder. © 2015 Wiley Periodicals, Inc.

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PubMed

Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara-Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina

2015-03-01

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT. © 2015 Wiley Periodicals, Inc.

Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

PubMed

Di Stefano, G; Celletti, C; Baron, R; Castori, M; Di Franco, M; La Cesa, S; Leone, C; Pepe, A; Cruccu, G; Truini, A; Camerota, F

2016-09-01

Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar mechanisms with neuropathic pain and fibromyalgia. In this prospective study seeking information on the mechanisms underlying pain in patients with JHS/EDS-HT, we enrolled 27 consecutive patients with this connective tissue disorder. Patients underwent a detailed clinical examination, including the neuropathic pain questionnaire DN4 and the fibromyalgia rapid screening tool. As quantitative sensory testing methods, we included thermal-pain perceptive thresholds and the wind-up ratio and recorded a standard nerve conduction study to assess non-nociceptive fibres and laser-evoked potentials, assessing nociceptive fibres. Clinical examination and diagnostic tests disclosed no somatosensory nervous system damage. Conversely, most patients suffered from widespread pain, the fibromyalgia rapid screening tool elicited positive findings, and quantitative sensory testing showed lowered cold and heat pain thresholds and an increased wind-up ratio. While the lack of somatosensory nervous system damage is incompatible with neuropathic pain as the mechanism underlying pain in JHS/EDS-HT, the lowered cold and heat pain thresholds and increased wind-up ratio imply that pain in JHS/EDS-HT might arise through central sensitization. Hence, this connective tissue disorder and fibromyalgia share similar pain mechanisms. WHAT DOES THIS STUDY ADD?: In patients with JHS/EDS-HT, the persistent nociceptive input due to joint abnormalities probably triggers central sensitization in the dorsal horn neurons and causes widespread pain. © 2016 European Pain Federation - EFIC®

[The Ehlers-Danlos syndrome: hystory of a clinical hendiadys].

PubMed

Brazzaventre, Cristina; Celletti, Claudia; Gobattoni, Paolo; Santilli, Valter; Camerota, Filippo

2013-01-01

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility, which results in easy bruising and abnormal scarring. The condition shows a phenotypic variance from milder to serious presentations. Complaints related to activity (hypermobility, dislocations, impaired balance), to pain (general pain, headache, jaw and tooth pain) and to skin (bruises, fragility, impaired wound healing) are frequent. It was first noted by Hippocrates in 400 BC in his writing 'Airs Water and Places' that the nomads Scythians had lax joints and multiple scars. Whereas the additional flexibility can give benefits in term of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences. We recognize that it is important that, in those hypermobility patients, who develop potentially debilitating symptoms of chronicfatigue or widespread pain, there should be prompt an appropriate intervention.

Visceroptosis and the Ehlers-Danlos Syndrome.

PubMed

Kucera, Stephen; Sullivan, Stephen N

2017-11-08

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

PubMed

Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-Ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

PubMed Central

Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. PMID:27656288

Hypermobility and joint hypermobility syndrome in Brazilian students and teachers of ballet dance.

PubMed

Sanches, S B; Oliveira, G M; Osório, F L; Crippa, J A S; Martín-Santos, R

2015-04-01

The current literature has been discussing the risks and benefits of joint hypermobility (JHM) for careers in ballet This study aimed to evaluate the prevalence of JHM and joint hypermobility syndrome (JHS) in a group of ballet teachers and students, looking both at aspects related to the flexibility required to dance, as at the risk of injuries when hypermobility is associated with other symptoms, in the case of JHS. We evaluated ballet teachers and ballet students, with age ranging from 18 to 40 years. All participants completed identification and sociodemographic questionnaires and underwent a physical examination. JHM was assessed using the Beighton score with goniometry. Symptoms of JHS were evaluated according to the Brighton criteria. Final sample consisted of 77 participants, being 44 ballet students and 33 ballet teachers. The prevalence of JHM in the sample as a whole was 58 %. Teachers and students had no significant differences regarding the prevalence of JHM (p = 0.74) (OR 1.21; 95 % CI 0.48-3.07). However, the prevalence of JHS was significantly different (p = 0.04) between students (16 %) and teachers (36 %). Teachers were three times more likely than student to have JHS (OR 3.02; 95 % CI 1.03-8.85). Teachers and students also presented differences in the frequency of specific items of Beighton score and Brighton criteria. These data provide elements to discuss the relationship between hypermobility, ballet technique and selection for dance, suggesting that dancers with JHS could find in ballet teaching an alternative to maintain professional activity with dance, while remaining protected from the higher risk of injury that professional dancers may be exposed to.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

PubMed

Syx, Delfien; De Wandele, Inge; Rombaut, Lies; Malfait, Fransiska

2017-01-01

Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes. The genetic basis of hEDS remains however unknown, in contrast to other well-described EDS subtypes. In view of the considerable clinical overlap with JHS, many consider it and hEDS to be a single clinical entity. Clinical experience and a limited number of clinical studies show that chronic pain also is common in EDS patients, especially in hEDS. The specific underlying causes and mechanisms of pain in JHS and EDS remain poorly understood. Factors likely contributing to the generation and chronicity of pain include nociceptive pain, directly based on structural changes in affected joints, muscle and connective tissue; neuropathic pain; impaired proprioception and muscle weakness; and central sensitisation. These mechanisms are not mutually exclusive, and likely more than one mechanism may be present. Furthermore, anxiety, depression, and other variables may influence the phenotype. Chronic pain in JHS and EDS patients often is inadequately controlled by traditional analgesics and physical therapy. In view of the high prevalence of these underrecognised conditions, future studies addressing the nature and mediators of chronic pain are needed in order to potentially identify novel targets for therapeutic intervention and optimise treatment.

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

PubMed

Ritelli, M; Morlino, S; Giacopuzzi, E; Bernardini, L; Torres, B; Santoro, G; Ravasio, V; Chiarelli, N; D'Angelantonio, D; Novelli, A; Grammatico, P; Colombi, M; Castori, M

2018-01-01

Deletions encompassing TAK1-binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. In the first family, whole-exome sequencing (WES) disclosed the novel TAB2 c.1398dup (p.Thr467Tyrfs*6) variant that eliminates the C-terminal zinc finger domain essential for activation of TAK1 (TGFβ-activated kinase 1)-dependent signaling pathways. The sporadic case carryed a ~2 Mb de novo deletion including 28 genes also comprising TAB2. This study reveal an association between TAB2 mutations and a phenotype resembling Ehlers-Danlos syndrome with severe polyvalvular heart disease and subtle facial dysmorphism. Our findings support the existence of a wider spectrum of clinical phenotypes associated with TAB2 perturbations and emphasize the role of TAK1 signaling network in human development. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Alterations in collagen structure in hypermobility and Ehlers-Danlos syndromes detected by Raman spectroscopy in vivo

NASA Astrophysics Data System (ADS)

Johansson, Carina K.; Gniadecka, Monika; Ullman, Susanne; Halberg, Poul; Kobayasi, Takasi; Wulf, Hans Christian

2000-11-01

Patients with hypermobility syndrome (HS) and Ehlers-Danlos syndrome (EDS) were investigated by means of in vivo near- infrared Fourier-transform Raman spectroscopy. HS is a benign and common condition (up to 5 percent of the population of the Western World). EDS is a rare, inherited connective tissue disease characterized by joint hypermobility, skin hyperextensibility, and other, occasionally serious, organ changes. EDS and HS may be related disorders. We investigated 13 patients with HS, 8 patients with EDS, and 24 healthy volunteers by means of in vivo Raman spectroscopy. The patients were classified according to Beighton and Holzberg et al. No difference in age between the three groups was found (HS 41 (33-49), EDS 36 (25-47), controls 37 (31-42); mean, 95% confidence intervals, respectively). Spectral differences were found in the intensity of the amide-III bands around 1245 and 1270 cm-1 in HS and EDS compared with healthy skin (Kruskal-Wallis, p equals 0,02 for intensity ratios (I1245/I1270) between the investigated groups). To elucidate the character of the alterations in the amide-III bands a curve fitting procedure was applied. In conclusion, Raman spectroscopy may aid in the diagnosis of HS and EDS. Moreover the technique may be useful for analyzing the molecular changes occurring in these syndromes.

The Effect of Shoulder Muscle Fatigue on Acromiohumeral Distance and Scapular Dyskinesis in Women With Generalized Joint Hypermobility.

PubMed

Alibazi, Razie J; Moghadam, Afsun Nodehi; Cools, Ann M; Bakhshi, Enayatollah; Ahari, Alireza Aziz

2017-12-01

Muscle fatigue is considered to be one cause of shoulder pain, and subjects with generalized joint hypermobility (GJH) are affected more by shoulder pain. The purpose of this study was to examine the effects of muscle fatigue on acromiohumeral distance (AHD) and scapular dyskinesis in women with GJH. Thirty-six asymptomatic participants were assigned to either a GJH (n = 20) or control group (n = 16) using the Beighton scale. Before and after elevation fatigue trials, AHD was measured with ultrasonography at rest and when the arm was in 90° active elevation. A scapular dyskinesis test was used to visually observe alterations in scapular movement. Our results showed that in both groups, the fatigue reduced AHD in the 90° elevation position and increased the presence of scapular dyskinesis; however, no differences were found between the two groups. Although GJH has been identified as a factor for developing musculoskeletal disorders, generalized joint hypermobility did not result in changes to scapular dyskinesis or AHD, even after an elevation fatigue task. More studies are needed to evaluate the effects of muscle fatigue in subjects with GJH and a history of shoulder instability.

Benign joint hypermobility syndrome in soldiers; what is the effect of military training courses on associated joint instabilities?

PubMed

Azma, Kamran; Mottaghi, Peyman; Hosseini, Alireza; Abadi, Hossein Hassan; Nouraei, Mohammad Hadi

2014-07-01

Hypermobile joints are joints with beyond normal range of motion and may be associated with joint derangements. This study aimed to evaluate the prevalence of benign joint hypermobility syndrome (BJHS) among soldiers and effect of training courses on related joint instabilities. In a prospective cohort study on 721 soldiers of Iran Army in Isfahan in 2013 the prevalence of joint hypermobility was obtained by using Beighton criteria. Soldiers divided in two groups of healthy and suffered based on their scores. The prevalence of ankle sprain, shoulder and temporomandibular joint (TMJ) dislocations identified before beginning service by history-taking and reviewing paraclinical documents. After 3 months of military training, a recent occurrence of mentioned diseases was revaluated in two groups. The collected data were analyzed using SPSS-20 software using Independent-T and Chi-square tests. The frequency of BJHS before military training was 29.4%. After passing military training period, the incidence of ankle sprain was significantly higher in suffered group achieving the minimum Beighton score (BS) of 4 (4.3%, P = 0.03), 5 (5.5%, P = 0.005) and also 6 out of 9 (6.5%, P = 0.01). The incidence of TMJ dislocation was not significantly different based on a minimum score of 4, while it was higher in suffered group when considering the score of 5 (2.1%) and 6 (2.6%) for discrimination of two groups (P = 0.03). There was no significant difference between two groups in case of shoulder dislocation anyway. Military training can increase the incidence of ankle sprains and TMJ dislocations in hypermobility persons with higher BS in comparison with healthy people. Therefore, screening of joint hypermobility may be useful in identifying individuals at increased risk for joint instabilities.

Use of the gait profile score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

PubMed

Celletti, Claudia; Galli, Manuela; Cimolin, Veronica; Castori, Marco; Tenore, Nunzio; Albertini, Giorgio; Camerota, Filippo

2013-11-01

Gait analysis (GA) is widely used for clinical evaluations in various pathological states, both in children and in adults, such as in patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). Otherwise, GA produces a large volume of data and there is the clinical need to provide also a quantitative measure of the patient's overall gait. Starting from this aim some global indexes were proposed by literature as a summary measure of the patient's gait, such as the Gait Profile Score (GPS). While validity of the GPS was demonstrated for the evaluation of the functional limitation of children with Cerebral Palsy, no studies have been conducted in patients JHS/EDS-HT. The aim of our study was therefore to investigate the effectiveness of the GPS in the quantification of functional limitation of patients with JHS/EDS-HT. Twenty-one adult (age: 36.1 ± 12.7 years) individuals with JHS/EDS-HT were evaluated using GA and from GA data the GPS was computed. The results evidenced that the GPS value of patients was 8.9 ± 2.6, statistically different from 4.6 ± 0.9 displayed by the control group. In particular, all values of Gait Variable Scores (GVS) which compose the GPS were higher if compared to controls, with the exception of Pelvic Tilt and Foot Progression. The correlations between GPS/GVS and Lower Extremity Functional Scale (LEFS) showed significant relationship between GPS and the item 11 ("Walking 2 blocks") (ρ=-0.56; p<0.05) and 12 ("Walking a mile") of LEFS (ρ=-0.76; p<0.05). Our results showed that GPS and GVS seem to be appropriate outcome measures for the evaluation of the functional limitation during gait of patients with JHS/EDS-HT. Copyright © 2013 Elsevier Ltd. All rights reserved.

Joint hypermobility and headache: the glue that binds the two together--part 2.

PubMed

Martin, Vincent T; Neilson, Derek

2014-09-01

Past studies have reported that connective tissue disorders (CTDs) are more common in patients with specific types of headache disorders. The objectives of this study are (1) to review and critique the clinical studies reporting an association between joint hypermobility, CTDs and headache and (2) to postulate mechanisms though which CTDs might predispose to headache disorders. PubMed was searched for relevant articles with search terms that included joint hypermobility, Ehlers-Danlos syndrome, Marfan syndrome, and specific headache disorders. A narrative review was performed of these articles as well as those identified from the bibliography of these articles. Case reports and case control studies confirm an association between CTDs and migraine, coat-hanger headaches, carotid arterial dissections, intracranial hypotension, Arnold Chiari malformations-type 1, cervical spine disorders, and temporomandibular joint disorders. Observational cross-sectional studies suggest that the prevalence of CTDs is increased in patients with specific types of headache disorders. It is unknown if the CTDs directly cause these headaches disorders or are associated with them through other mechanisms. © 2014 American Headache Society.

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.

PubMed

Fukuda, Yoshihisa; Higuchi, Yusuke; Shinozaki, Kanae; Tanigawa, Yuji; Abe, Taro; Hanaoka, Nobuyoshi; Matsubayashi, Sunao; Yamaguchi, Tomomi; Kosho, Tomoki; Nakamichi, Koji

2017-10-15

Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum. She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum.

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature

PubMed Central

Fukuda, Yoshihisa; Higuchi, Yusuke; Shinozaki, Kanae; Tanigawa, Yuji; Abe, Taro; Hanaoka, Nobuyoshi; Matsubayashi, Sunao; Yamaguchi, Tomomi; Kosho, Tomoki; Nakamichi, Koji

2017-01-01

Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum. She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum. PMID:28924124

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

PubMed Central

2014-01-01

Ehlers-Danlos syndrome (EDS, ORPHA98249) comprises a group of clinically and genetically heterogeneous heritable connective tissue disorders, chiefly characterized by joint hypermobility and instability, skin texture anomalies, and vascular and soft tissue fragility. As many tissues can be involved, the underlying molecular defect can manifest itself in many organs and with varying degrees of severity, with widespread implications for anesthesia and perioperative management. This review focuses on issues relevant for anesthesia for elective and emergency surgery in EDS. We searched the literature for papers related to all EDS variants; at the moment most of the published data deals with the vascular subtype and, to a lesser extent, classic and hypermobility EDS. Knowledge is fragmented and consists mostly of case reports, small case series and expert opinion. Because EDS patients commonly require surgery, we have summarized some recommendations for general, obstetrical and regional anesthesia, as well as for hemostatic therapy. PMID:25053156

Hypermobility in Adolescent Athletes: Pain, Functional Ability, Quality of Life, and Musculoskeletal Injuries.

PubMed

Schmidt, Heidi; Pedersen, Trine Lykke; Junge, Tina; Engelbert, Raoul; Juul-Kristensen, Birgit

2017-10-01

Study Design Cross-sectional. Background Generalized joint hypermobility (GJH) may increase pain and likelihood of injuries and also decrease function and health-related quality of life (HRQoL) in elite-level adolescent athletes. Objective To assess the prevalence of GJH in elite-level adolescent athletes, and to study the association of GJH with pain, function, HRQoL, and musculoskeletal injuries. Methods A total of 132 elite-level adolescent athletes (36 adolescent boys, 96 adolescent girls; mean ± SD age, 14.0 ± 0.9 years), including ballet dancers (n = 22), TeamGym gymnasts (n = 57), and team handball players (n = 53), participated in the study. Generalized joint hypermobility was classified by Beighton score as GJH4 (4/9 or greater), GJH5 (5/9 or greater), and GJH6 (6/9 or greater). Function of the lower extremity, musculoskeletal injuries, and HRQoL were assessed with self-reported questionnaires, and part of physical performance was assessed by 4 postural-sway tests and 2 single-legged hop-for-distance tests. Results Overall prevalence rates for GJH4, GJH5, and GJH6 were 27.3%, 15.9%, and 6.8%, respectively, with a higher prevalence of GJH4 in ballet dancers (68.2%) and TeamGym gymnasts (24.6%) than in team handball players (13.2%). There was no significant difference in lower extremity function, injury prevalence and related factors (exacerbation, recurrence, and absence from training), HRQoL, or lengths of hop tests for those with and without GJH. However, the GJH group had significantly larger center-of-pressure path length across sway tests. Conclusion For ballet dancers and TeamGym gymnasts, the prevalence of GJH4 was higher than that of team handball players. For ballet dancers, the prevalence of GJH5 and GJH6 was higher than that of team handball players and the general adolescent population. The GJH group demonstrated larger sway in the balance tests, which, in the current cross-sectional study, did not have an association with injuries or HRQoL. However, the risk of having (ankle) injuries due to larger sway for the GJH group must be studied in future longitudinal studies. J Orthop Sports Phys Ther 2017;47(10):792-800. doi:10.2519/jospt.2017.7682.

Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PubMed

Vegunta, Sravanthi; Cotugno, Richard; Williamson, Amber; Grebe, Theresa A

2015-12-01

Noonan syndrome (NS) is a multiple malformation syndrome characterized by pulmonic stenosis, cardiomyopathy, short stature, lymphatic dysplasia, craniofacial anomalies, cryptorchidism, clotting disorders, and learning disabilities. Eight genes in the RAS/MAPK signaling pathway are implicated in NS. Chronic pain is an uncommon feature. To investigate the prevalence of pain in NS, we distributed a two-part questionnaire about pain among NS individuals at the Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway. The first part of the questionnaire queried demographic information among all NS participants. The second part was completed by individuals with chronic pain. Questions included musculoskeletal problems and clinical features of pain. Forty-five questionnaires were analyzed; 53% of subjects were female. Mean age was 17 (2-48) years; 47% had a PTPN11 mutation. Sixty-two percent (28/45) of individuals with NS experienced chronic pain. There was a significant relationship between prevalence of pain and residing in a cold climate (P = 0.004). Pain occurred commonly in extremities/joints and head/trunk, but more commonly in extremities/joints (P = 0.066). Subjects with hypermobile joints were more likely to have pain (P = 0.052). Human growth hormone treatment was not statistically significant among subjects without chronic pain (P = 0.607). We conclude that pain is a frequent and under-recognized clinical feature of NS. Chronic pain may be associated with joint hypermobility and aggravated by colder climate. Our study is a preliminary investigation that should raise awareness about pain as a common symptom in children and adults with NS. © 2015 Wiley Periodicals, Inc.

What to measure when determining orthotic needs in children with Down syndrome: a pilot study.

PubMed

Looper, Julia; Benjamin, Danielle; Nolan, Mindy; Schumm, Laura

2012-01-01

To compare the effects of off-the-shelf foot orthoses and supramalleolar orthoses on the gait of children with Down syndrome (DS), and establish criteria for determining orthoses prescription for a child with DS. We assessed the gait of 6 children (aged 4-7 years) with DS using the GAITRite system, and obtained height, weight, leg length, hypermobility, calcaneal eversion, navicular drop, and tibial torsion measurements. Supramalleolar orthoses lead to a longer cycle time than foot orthoses (P = .05) and barefoot walking (P = .03) and a lower cadence than barefoot walking (P = .04). Significant strong correlations with gait parameters were obtained for height, leg length, and hypermobility. Biomechanical measurements showed no significant correlations with gait parameters. The role of physical examination data, including anthropometric and biomechanical measurements in the prescription of orthoses requires further investigation.

Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.

PubMed

Cheng, Jem L; Au, Jason S; Guzman, Juan C; Morillo, Carlos A; MacDonald, Maureen J

2017-04-01

The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance.

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.

PubMed

Engelbert, Raoul H H; Juul-Kristensen, Birgit; Pacey, Verity; de Wandele, Inge; Smeenk, Sandy; Woinarosky, Nicoleta; Sabo, Stephanie; Scheper, Mark C; Russek, Leslie; Simmonds, Jane V

2017-03-01

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS. Due to the complexity of the symptoms in the profile of JHS/hEDS, the International Classification of Functioning, Disability and Health (ICF) is adopted as a central framework whereby the umbrella term of disability is used to encompass functions, activities and participation, as well as environmental and personal factors. The current evidence-based literature regarding the management of JHS/hEDS is limited in size and quality and there is insufficient research exploring the clinical outcomes of a number of interventions. Multicenter randomized controlled trials are warranted to assess the clinical and cost-effectiveness of interventions for children and adults. Until further multicenter trials are conducted, clinical decision-making should be based on theoretical and the current limited research evidence. For all individuals diagnosed with JHS/hEDS, international consensus and combined efforts to identify risk profiles would create a better understanding of the pathological mechanisms and the potential for optimizing health care for affected individuals. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Test-retest reliability and smallest detectable change of the Bristol Impact of Hypermobility (BIoH) questionnaire.

PubMed

Palmer, S; Manns, S; Cramp, F; Lewis, R; Clark, E M

2017-12-01

The Bristol Impact of Hypermobility (BIoH) questionnaire is a patient-reported outcome measure developed in conjunction with adults with Joint Hypermobility Syndrome (JHS). It has demonstrated strong concurrent validity with the Short Form-36 (SF-36) physical component score but other psychometric properties have yet to be established. This study aimed to determine its test-retest reliability and smallest detectable change (SDC). A test-retest reliability study. Participants were recruited from the Hypermobility Syndromes Association, a patient organisation in the United Kingdom. Recruitment packs were sent to 1080 adults who had given permission to be contacted about research. BIoH and SF-36 questionnaires were administered at baseline and repeated two weeks later. An 11-point global rating of change scale (-5 to +5) was also administered at two weeks. Test-retest analysis and calculation of the SDC was conducted on 'stable' patients (defined as global rating of change -1 to +1). 462 responses were received. 233 patients reported a 'stable' condition and were included in analysis (95% women; mean (SD) age 44.5 (13.9) years; BIoH score 223.6 (54.0)). The BIoH questionnaire demonstrated excellent test-retest reliability (ICC 0.923, 95% CI 0.900-0.940). The SDC was 42 points (equivalent to 19% of the mean baseline score). The SF-36 physical and mental component scores demonstrated poorer test-retest reliability and larger SDCs (as a proportion of the mean baseline scores). The results provide further evidence of the potential of the BIoH questionnaire to underpin research and clinical practice for people with JHS. Copyright © 2017 Elsevier Ltd. All rights reserved.

Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.

PubMed

Hommel, Alyson L; Jewett, Tamison; Mortenson, Megan; Caress, James B

2016-10-01

Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS). The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016. © 2016 Wiley Periodicals, Inc.

Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report.

PubMed

Strunk, Richard G

2017-06-01

The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility. As a result of her significant history and examination findings, which met the Brighton and Villefranche criteria, she was diagnosed with EDS-HT. Treatment primarily consisted of low force joint manipulative therapy and soft tissue therapy intermittently over 21 months concurrently with conventional and complementary medical care. Multiple outcome questionnaires were administered pragmatically at follow-up intervals of 3, 5½, 8½, 19, and 21 months, including but not limited to the Headache and Neck Disability Indices and the Oswestry Low Back Questionnaire. The patient had clinically meaningful improvements on the Neck Disability Index, the Headache Disability Index, and the Revised Oswestry after 3, 5½, 8½, and 21 months from baseline. This patient with EDS-HT had clinically meaningful decreases in disability, headache, and spine pain after a course of multimodal chiropractic care combined with conventional and complementary medical care.

A cross-sectional survey assessing sources of movement-related fear among people with fibromyalgia syndrome.

PubMed

Russek, Leslie; Gardner, Sarah; Maguire, Kelly; Stevens, Caitlin; Brown, Erica Z; Jayawardana, Veroni; Mondal, Sumona

2015-06-01

Fear of movement may contribute to functional limitations and loss of well-being among individuals with fibromyalgia (FM). The objectives of this study were to assess factors contributing to movement-related fear and to explore relationships among these factors, function and wellness, in a widespread population of people with FM. This was an internet survey of individuals with FM. Respondents completed a battery of surveys including the Fibromyalgia Impact Questionnaire--Revised (FIQR), Tampa Scale of Kinesiophobia (TSK), Activities-Specific Balance Confidence Scale (ABC), Primary Care Posttraumatic Stress Disorder screen (PC-PTSD), Vertigo Symptom Scale (VSS-SF), a joint hypermobility syndrome screen (JHS), and screening questions related to obsessive-compulsive personality disorder (OCPD), physical activity, work status, and demographics. Analysis included descriptive statistics, Pearson product-moment correlations, and linear regression. Over a 2-year period, 1,125 people (97.6 % female) completed the survey battery. Kinesiophobia was present in 72.9 % of the respondents, balance confidence was compromised in 74.8 %, PTSD likely in 60.4 %, joint hypermobility syndrome likely in 46.6 %, and OCPD tendencies in 26.8 %. The total FIQR and FIQR perceived function subscores were highly correlated (p < 0.0005, r > 0.4) with pain, kinesiophobia, balance confidence, and vertigo. Reported activity level had poor correlation (r < 0.25) with all measured variables. Pain, ABC, VSS, and TSK predicted FIQR and FIQR-pf, explaining 65 and 48 % of the variance, respectively. Kinesiophobia, balance complaints, vertigo, PTSD, and joint hypermobility were common in this population of people with FM. Sources of movement-related fear correlated to overall wellness and perceived function as measured by the FIQR and FIQR-pf.

Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome.

PubMed

Bravo, Jaime F; Wolff, Carlos

2006-02-01

To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

PubMed

Zoppi, Nicoletta; Chiarelli, Nicola; Binetti, Silvia; Ritelli, Marco; Colombi, Marina

2018-04-01

Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications, and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced. We previously reported that in vitro cultured hEDS and HSD patients' skin fibroblasts show a disarray of several extracellular matrix (ECM) components and dysregulated expression of genes involved in connective tissue homeostasis and inflammatory/pain/immune responses. Herein, we report that hEDS and HSD skin fibroblasts exhibit in vitro a similar myofibroblast-like phenotype characterized by the organization of α-smooth muscle actin cytoskeleton, expression of OB-cadherin/cadherin-11, enhanced migratory capability associated with augmented levels of the ECM-degrading metalloproteinase-9, and altered expression of the inflammation mediators CCN1/CYR61 and CCN2/CTGF. We demonstrate that in hEDS and HSD cells this fibroblast-to-myofibroblast transition is triggered by a signal transduction pathway that involves αvβ3 integrin-ILK complexes, organized in focal adhesions, and the Snail1/Slug transcription factor, thus providing insights into the molecular mechanisms related to the pathophysiology of these protean disorders. The indistinguishable phenotype identified in hEDS and HSD cells resembles an inflammatory-like condition, which correlates well with the systemic phenotype of patients, and suggests that these multisystemic disorders might be part of a phenotypic continuum rather than representing distinct clinical entities. Copyright © 2018 Elsevier B.V. All rights reserved.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

PubMed

De Wandele, Inge; Rombaut, Lies; De Backer, Tine; Peersman, Wim; Da Silva, Hellen; De Mits, Sophie; De Paepe, Anne; Calders, Patrick; Malfait, Fransiska

2016-08-01

To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT). Eighty patients with EDS-HT and 52 controls participated in the first part of the study, which consisted of questionnaires. Fatigue was evaluated using the Checklist Individual Strength (CIS). As possible fatigue determinants OI [Autonomic Symptom Profile (ASP)], habitual physical activity (Baecke), affective distress [Hospital Anxiety and Depression Scale (HADS)], pain (SF36), medication use and generalized hypermobility (5-point score of Grahame and Hakim regarding generalized joint hypermobility) were studied. Next, a 20 min head-up tilt (70°) was performed in a subsample of 39 patients and 35 controls, while beat-to-beat heart rate and blood pressure were monitored (Holter, Finometer Pro). Before and after tilt, fatigue severity was assessed using a numeric rating scale. Patients scored significantly higher on the CIS [total score: EDS: 98.2 (18.63) vs controls: 45.8 (16.62), P < 0.001] and on the OI domain of the ASP [EDS: 22.78 (7.16) vs controls: 6.5 (7.78)]. OI was prevalent in EDS-HT (EDS: 74.4%, controls: 34.3%, P = 0.001), and frequently expressed as postural orthostatic tachycardia (41.0% of the EDS group). Patients responded to tilt with a higher heart rate and lower total peripheral resistance (p < 0.001; p = 0.032). This altered response correlated with fatigue in daily life (CIS). In the EDS-HT group, tilt provoked significantly more fatigue [numeric rating scale increase: EDS: +3.1 (1.90), controls: +0.5 (1.24), P < 0.001]. Furthermore, the factors OI, pain, affective distress, decreased physical activity and sedative use explained 47.7% of the variance in fatigue severity. OI is an important determinant of fatigue in EDS-HT. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Botulinum toxin treatment for slipping rib syndrome: a case report.

PubMed

Pirali, Caterina; Santus, Gianna; Faletti, Sofia; De Grandis, Domenico

2013-10-01

Slipping rib syndrome (SRS) is a musculoskeletal cause of severe and recurrent thoracic or abdominal pain. The etiology of SRS is unknown, it seems to arise from costal hypermobility with a tendency of one of the ribs (usually from 8th to 10th but also 11th and 12th have been described) to slip under the superior adjacent rib. Its prevalence is underestimated because SRS is mainly a clinical diagnosis, frequently missed. The critical aspect of the diagnosis is knowledge of the condition itself, which, when lacking, often results in the patient being referred to many different specialists and exposed to unnecessary and costly investigations. The management of the condition includes conservative techniques such as manipulation, localized anesthetic, and steroid or anesthetic nerve block. However, where conservative therapy fails, surgical treatment, with excision of the rib, may be performed. In this paper we describe the case of a patient with persistent and debilitating flank pain who, after many investigations, was diagnosed with SRS. The usual conservative treatment failed, after which we treated the patient with injections of incobotulinumtoxin A into muscles inserting on the inferior side of the rib cage (quadratus lumborum muscle, muscle transversus abdomini, abdominal external oblique muscle, and recto abdomini) achieving a complete relief from pain. To our knowledge botulinum toxin has never been proposed before for the treatment of SRS. We believe that it should be considered as a therapeutic option, especially where other medical treatments have failed or as an intermediate step before surgical intervention.

United States Physical Therapists' Knowledge About Joint Hypermobility Syndrome Compared with Fibromyalgia and Rheumatoid Arthritis.

PubMed

Russek, Leslie N; LaShomb, Emily A; Ware, Amy M; Wesner, Sarah M; Westcott, Vanessa

2016-03-01

Joint hypermobility syndrome (JHS) is one of the most common inherited connective tissue disorders. It causes significant pain and disability for all age groups, ranging from developmental delay among children to widespread chronic pain in adults. Experts in JHS assert that the condition is under-recognized and poorly managed. The aim of this study was to assess US physical therapists' knowledge about JHS compared with other causes of widespread pain and activity limitations: fibromyalgia, juvenile rheumatoid arthritis and adult rheumatoid arthritis. Cross-sectional, Internet-based survey of randomly selected members of the American Physical Therapy Association and descriptive statistics were used to explore physical therapists' knowledge about JHS, fibromyalgia, juvenile rheumatoid arthritis and adult rheumatoid arthritis, and chi square was used to compare knowledge about the different conditions. The response rate was 15.5% (496). Although 36% recognized the Beighton Scale for assessing joint hypermobility, only 26.8% of respondents were familiar with the Brighton Criteria for diagnosing JHS. Few respondents (11-19%) realized that JHS has extra-articular features such as anxiety disorder, fatigue, headache, delayed motor development, easy bruising and sleep disturbance. Physical therapists working in environments most likely to see patients with JHS underestimated the likely prevalence in their patient population. The results suggest that many physical therapists in the United States are not familiar with the diagnostic criteria, prevalence or common clinical presentation of JHS. Copyright © 2014 John Wiley & Sons, Ltd.

[Locomotive syndrome and frailty. Musculoskeletal ambulation disorder symptom complex and locomotive syndrome].

PubMed

Yamamoto, Noriaki

2012-04-01

Musculoskeletal ambulation disorder symptom complex is the new concept of musculoskeletal disorders with disability in walking and balance, which lead to the high risk of fall and lower activity in elderly. Locomotive syndrome is another concept to aware of healthy locomotive organ for early prevention of orthopedic disease.

Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

PubMed Central

Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

2012-01-01

Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

Clinical Heterogeneity in Patients with the Hypermobility Type of Ehlers-Danlos Syndrome

ERIC Educational Resources Information Center

De Wandele, Inge; Rombaut, Lies; Malfait, Fransiska; De Backer, Tine; De Paepe, Anne; Calders, Patrick

2013-01-01

EDS-HT is a connective tissue disorder characterized by large inter-individual differences in the clinical presentation, complicating diagnosis and treatment. We aim to describe the clinical heterogeneity and to investigate whether differences in the symptom profile are also reflected as disparity in functional impairment and pain experience. In…

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

PubMed Central

Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

2013-01-01

Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal’s syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID:23399831

Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series.

PubMed

Neice, Andrew E; Stubblefield, Eryn E; Woodworth, Glenn E; Aziz, Michael F

2016-09-01

Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy. Case series, chart review. Academic medical center. Patients with a confirmed or probable diagnosis of EDS who had received a peripheral nerve block in the last 3 years were identified by searching our institutions electronic medical record system. The patients were classified by their subtype of EDS. Patients with no diagnosed subtype were given a probable subtype based on a chart review of the patient's symptoms. Patient charts were reviewed for any evidence of complications or reduced block efficacy. A total of 21 regional anesthetics, on 16 unique patients were identified, 10 of which had a EDS subtype diagnosis. The majority of these patients had a diagnosis of hypermobility-type EDS. No block complications were noted in any patients. Two block failures requiring repeat block were noted, and four patients reported uncontrolled pain on postoperative day one despite successful placement of a peripheral nerve catheter. Additionally, blocks were performed without incident in patients with classical-type and vascular-type EDS although the number was so small that no conclusions can be drawn about relative safety of regional anesthesia in these groups. This series fails to show an increased risk of complications of peripheral nerve blockade in patients with hypermobility-type EDS. Copyright © 2016 Elsevier Inc. All rights reserved.

Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis.

PubMed

Scheper, Mark C; Juul-Kristensen, Birgit; Rombaut, Lies; Rameckers, Eugene A; Verbunt, Jeanine; Engelbert, Raoul H

2016-12-01

To (1) establish the association of the most common reported symptoms on disability; and (2) study the effectiveness of treatment on disability in patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT)/hypermobility syndrome (HMS). An electronic search (Medical Subject Headings and free-text terms) was conducted in bibliographic databases CENTRAL/MEDLINE. Comparative, cross-sectional, longitudinal cohort studies and (randomized) controlled trials including patients with HMS/EDS-HT aged ≥17 years were considered for inclusion. A class of symptoms was included when 5 publications were available. In regards to treatment (physical, cognitive interventions), only (randomized) controlled trials were considered. Surgical and medicinal interventions were excluded. Bias was assessed according to the methodological scoring tools of the Cochrane collaboration. Z-score transformations were applied to classify the extent of disability in comparison with healthy controls and to ensure comparability between studies. Initially, the electronic search yielded 714 publications, and 21 articles remained for analysis after selection. The following symptoms were included for meta-analysis: pain (n=12), fatigue (n=6), and psychological distress (n=7). Pain (r=.64, P=.021), fatigue (r=.91, P=.011), and psychological distress (r=.86, P=.018) had a significant impact on disability. Regarding treatment, a significant pain reduction was achieved by a variety of physical and cognitive approaches. Treatment effectiveness on disability was not established. Disability can affect patients with HMS/EDS-HT significantly and is highly correlated with both physical and psychological factors. Although evidence is available that physical and psychological treatment modalities can induce significant pain reduction, the evidence regarding disability reduction is lacking. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Joint Hypermobility Classes in 9-Year-Old Children from the General Population and Anxiety Symptoms.

PubMed

Ezpeleta, Lourdes; Navarro, José Blas; Osa, Núria de la; Penelo, Eva; Bulbena, Antoni

2018-05-25

To obtain joint hypermobility classes in children from the general population and to study their characteristics in relation to anxiety measures. A total of 336 nine-year-old children from the general population were clinically assessed through 9 items of hypermobility, and their parents reported about the severity of anxiety symptoms. Latent class analysis was estimated to group the children according to the presence of hypermobility symptoms, and the obtained classes were related to anxiety. A 2-class solution, labeled as high hypermobility and low hypermobility, best fitted the data. Children in the high hypermobility group scored higher in separation anxiety, social phobia, physical injury fears, and total anxiety than did those in the low group. When applying the threshold reference scores to the total anxiety score, 7.4% of children in the high hypermobility group versus 6% in the low group were reported to experience clinical elevations on total anxiety. High symptoms of hypermobility are associated with higher scores in anxiety symptoms in children from the general population. Children with frequent symptoms of hypermobility may benefit from screening for anxiety symptoms because a subset of them are experiencing clinical elevations and may need comprehensive physical and psychological treatment.

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

PubMed Central

Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina

2016-01-01

Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS). Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex- and age-adjusted normative reference values. Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS ≥4 and <7) in 8 patients and severe (NRS ≥7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type. Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS. PMID:27306637

Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population

PubMed Central

Glans, Martin; Humble, Mats B.

2017-01-01

Background Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations. Aims To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population. Method Hakim-Grahame’s 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population (n=1039). Results In total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD. Conclusions Although GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license. PMID:28959454

Congenital keratoglobus with multiple cardiac anomalies: a case presentation and literature review.

PubMed

Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

2015-07-01

Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients.

Common Soft Tissue Musculoskeletal Pain Disorders.

PubMed

Hubbard, Matthew J; Hildebrand, Bernard A; Battafarano, Monica M; Battafarano, Daniel F

2018-06-01

Soft tissue musculoskeletal pain disorders are common in the primary care setting. Early recognition and diagnosis of these syndromes minimizes patient pain and disability. This article gives a brief overview of the most common soft tissue musculoskeletal pain syndromes. The authors used a regional approach to organize the material, as providers will encounter these syndromes with complaints of pain referring to an anatomic location. The covered disorders include myofascial pain syndrome, rotator cuff tendinopathy, bicipital tendinopathy, subacromial bursitis, olecranon bursitis, epicondylitis, De Quervain disease, trigger finger, trochanteric bursitis, knee bursitis, pes anserine bursitis, Baker cyst, plantar fasciitis, and Achilles tendinopathy. Published by Elsevier Inc.

Severe periodontitis in Marfan's syndrome: a case report.

PubMed

Straub, Antje M; Grahame, Rodney; Scully, Crispian; Tonetti, Maurizio S

2002-07-01

Connective tissue disorders, such as some forms of Ehlers-Danlos syndrome, have been associated with severe periodontitis. This report describes a case of Marfan's syndrome, an inherited disorder of connective tissue caused by mutations in the fibrillin-1 gene, in which the patient presented with severe periodontitis. At examination, an average full-mouth clinical attachment level loss of 5.6+/-2.1 mm, furcation involvement, and severe alveolar bone loss were observed in a 41-year-old Caucasian male. Tooth hypermobility was also present. This case appears to be the first documentation of severe periodontitis in a patient with Marfan's syndrome. It supports the hypothesis that a variety of connective tissue disorders may confer increased susceptibility to periodontal tissue breakdown.

Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome.

PubMed

Laszkowska, Monika; Roy, Abhik; Lebwohl, Benjamin; Green, Peter H R; Sundelin, Heléne E K; Ludvigsson, Jonas F

2016-09-01

Patients with celiac disease (CD) often have articular complaints, and small prior studies suggest an association with Ehlers-Danlos syndrome (EDS)/joint hypermobility syndrome (JHS). This study examines the risks of EDS/JHS in patients with CD. This cohort study compared all individuals in Sweden diagnosed with CD based on small intestinal biopsy between 1969-2008 (n=28,631) to 139,832 matched reference individuals, and to a second reference group undergoing biopsy without having CD (n=16,104). Rates of EDS/JHS were determined based on diagnostic codes in the Swedish Patient Register. Hazard ratios (HRs) for EDS/JHS were estimated through Cox regression. There are 45 and 148 cases of EDS/JHS in patients with CD and reference individuals, respectively. This corresponds to a 49% increased risk of EDS/JHS in CD (95%CI=1.07-2.07). The HR for EDS was 2.43 (95%CI=1.20-4.91) and for JHS 1.34 (95%CI=0.93-1.95). Compared to reference individuals undergoing intestinal biopsy, CD was not a risk factor for EDS/JHS. A stronger association was seen in patients initially diagnosed with EDS/JHS and subsequently diagnosed with CD (odds ratio=2.29; 95%CI=1.21-4.34). Individuals with CD have higher risk of EDS/JHS than the general population, which may be due to surveillance bias or factors intrinsic to celiac development. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Eyes-Closed Single-Limb Balance is Not Related to Hypermobility Status in Dancers.

PubMed

Marulli, Tiffany A; Harmon-Matthews, Lindsay E; Davis-Coen, J Hope; Willigenburg, Nienke W; Hewett, Timothy E

2017-06-15

Hypermobility may be associated with decreased lower extremity proprioception, which in turn may increase injury risk. The prevalence of hypermobility in dancers varies across studies, but joint hypermobility appears to be more common in dancers than in the general population. The purpose of this study was to determine how hypermobility affects eyes-closed single-limb balance as an indirect measure of proprioception in dancers. The secondary aim was to compare hypermobility and balance across dancer affiliation groups. Data were collected from 45 professional dancers, 11 collegiate modern dancers, 227 student dancers, and 15 pre-professional dancers during routine dance screens. Dancer hypermobility status was assessed via an eight-point Beighton-Horan Laxity test. Single-limb balance time, in seconds, was assessed in parallel position with the eyes closed. Hypermobile (HM) and non-hypermobile (NHM) dancers showed very similar balance times (HM median: 36.5 seconds; NHM median: 33.0 seconds; p = 0.982). Hypermobility was not significantly different between dancer affiliation groups (p = 0.154): 47% in ballet academy students, 27% in collegiate modern dancers, 62% in pre-professional dancers, and 36% in professional dancers. The student, pre-professional, and professional ballet dancers all demonstrated longer balance times than the collegiate modern dancers; however, this difference was only significant between the professional ballet dancers and collegiate modern dancers (p = 0.026). Dancers demonstrated a higher prevalence of hypermobility than what has been reported for the general population. Joint hypermobility did not affect eyes-closed single-limb balance time. Future studies are needed to determine if joint hypermobility affects more sensitive measures of proprioception and risk of injury.

LOWER EXTREMITY HYPERMOBILITY, BUT NOT CORE MUSCLE ENDURANCE INFLUENCES BALANCE IN FEMALE COLLEGIATE DANCERS.

PubMed

Ambegaonkar, Jatin P; Cortes, Nelson; Caswell, Shane V; Ambegaonkar, Gautam P; Wyon, Matthew

2016-04-01

Dance is a physically demanding activity, with almost 70% of all injuries in dancers occurring in the lower extremity (LE). Prior researchers report that muscle function (e.g. muscle endurance) and anatomical factors (e.g. hypermobility) affect physical performance (e.g. balance) and can subsequently influence LE injury risk. Specifically, lesser core muscle endurance, balance deficits, and greater hypermobility are related to increased LE injury risk. However, the potentials interrelationships among these factors in dancers remain unclear. The purposes of this study were to examine the relationships among core muscle endurance, balance, and LE hypermobility, and determine the relative contributions of core muscle endurance and LE hypermobility as predictors of balance in female collegiate dancers. Cross-sectional. Core muscle endurance was evaluated using the combined average anterior, left, and right lateral plank test time scores(s). LE hypermobility was measured using the LE-specific Beighton hypermobility measure, defining hypermobility if both legs had greater than 10 ° knee hyperextension. Balance was measured via the composite anterior, posterolateral, and posteromedial Star Excursion Balance Test (SEBT) reach distances (normalized to leg length) in 15 female healthy collegiate dancers (18.3 + 0.5yrs, 165.5 + 6.9cm, 63.7 + 12.1kg). Point-biserial-correlation-coefficients examined relationships and a linear regression examined whether core endurance and hypermobility predicted balance (p<.05). LE hypermobility (Yes; n = 3, No; n = 12) and balance (87.2 + 8.3% leg length) were positively correlated r(14)=.67, (p=.01). However, core endurance (103.9 + 50.6 s) and balance were not correlated r(14)=.32, (p=.26). LE hypermobility status predicted 36.9% of the variance in balance scores (p=.01). LE hypermobility, but not core muscle endurance may be related to balance in female collegiate dancers. While LE hypermobility status influenced balance in the female collegiate dancers, how this LE hypermobility status affects their longitudinal injury risk as their careers progress needs further study. Overall, the current findings suggest that rather than using isolated core endurance-centric training, clinicians may encourage dancers to use training programs that incorporate multiple muscles - in order to improve their balance, and possibly reduce their LE injury risk. 2b.

LOWER EXTREMITY HYPERMOBILITY, BUT NOT CORE MUSCLE ENDURANCE INFLUENCES BALANCE IN FEMALE COLLEGIATE DANCERS

PubMed Central

Cortes, Nelson; Caswell, Shane V.; Ambegaonkar, Gautam P.; Wyon, Matthew

2016-01-01

Background Dance is a physically demanding activity, with almost 70% of all injuries in dancers occurring in the lower extremity (LE). Prior researchers report that muscle function (e.g. muscle endurance) and anatomical factors (e.g. hypermobility) affect physical performance (e.g. balance) and can subsequently influence LE injury risk. Specifically, lesser core muscle endurance, balance deficits, and greater hypermobility are related to increased LE injury risk. However, the potentials interrelationships among these factors in dancers remain unclear. Purpose The purposes of this study were to examine the relationships among core muscle endurance, balance, and LE hypermobility, and determine the relative contributions of core muscle endurance and LE hypermobility as predictors of balance in female collegiate dancers. Study Design Cross-sectional Methods Core muscle endurance was evaluated using the combined average anterior, left, and right lateral plank test time scores(s). LE hypermobility was measured using the LE-specific Beighton hypermobility measure, defining hypermobility if both legs had greater than 10 ° knee hyperextension. Balance was measured via the composite anterior, posterolateral, and posteromedial Star Excursion Balance Test (SEBT) reach distances (normalized to leg length) in 15 female healthy collegiate dancers (18.3 + 0.5yrs, 165.5 + 6.9cm, 63.7 + 12.1kg). Point-biserial-correlation-coefficients examined relationships and a linear regression examined whether core endurance and hypermobility predicted balance (p<.05). Results LE hypermobility (Yes; n = 3, No; n = 12) and balance (87.2 + 8.3% leg length) were positively correlated r(14)=.67, (p=.01). However, core endurance (103.9 + 50.6 s) and balance were not correlated r(14)=.32, (p=.26). LE hypermobility status predicted 36.9% of the variance in balance scores (p=.01). Conclusion LE hypermobility, but not core muscle endurance may be related to balance in female collegiate dancers. While LE hypermobility status influenced balance in the female collegiate dancers, how this LE hypermobility status affects their longitudinal injury risk as their careers progress needs further study. Overall, the current findings suggest that rather than using isolated core endurance-centric training, clinicians may encourage dancers to use training programs that incorporate multiple muscles - in order to improve their balance, and possibly reduce their LE injury risk. Level of Evidence 2b PMID:27104055

Clinical and demographic characteristics and functional status of the patients with fibromyalgia syndrome

PubMed Central

Sahin, Nilay; Atik, Aziz; Dogan, Erdal

2014-01-01

OBJECTIVE: To investigate the clinical and demographic characteristics and functional status of the patients with fibromyalgia syndrome (FMS). METHODS: Ninety-four patients with the diagnosis of FMS were included in the study. All patients were evaluated with short form 36 for quality of life (SF-36), pain, depression, benign joint hypermobility syndrome (BJHS), myofacial pain syndrome (MPS), and demogrophic characteristics. End-point measurements were SF-36 for quality of life, visual analogue scale, Beck Depression Index, anamnesis, and physical examination. RESULTS: The majority of the patients were women who were suffering from generalised pain with a median age of 40.4. Mostly depression and sleep disorders were accompanying the syndrome. Physical examination revealed MPS and BJHS in most of the patients. CONCLUSION: BJHS and MPS must also be investigated in patients with the diagnosis of FMS. PMID:28058309

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

PubMed Central

Reinstein, Eyal; Frentz, Sophia; Morgan, Tim; García-Miñaúr, Sixto; Leventer, Richard J; McGillivray, George; Pariani, Mitchel; van der Steen, Anthony; Pope, Michael; Holder-Espinasse, Muriel; Scott, Richard; Thompson, Elizabeth M; Robertson, Terry; Coppin, Brian; Siegel, Robert; Bret Zurita, Montserrat; Rodríguez, Jose I; Morales, Carmen; Rodrigues, Yuri; Arcas, Joaquín; Saggar, Anand; Horton, Margaret; Zackai, Elaine; Graham, John M; Rimoin, David L; Robertson, Stephen P

2013-01-01

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance. PMID:23032111

Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

PubMed Central

Kariminejad, Ariana; Bozorgmehr, Bita; Khatami, Alireza; Kariminejad, Mohamad-Hasan; Giunta, Cecilia; Steinmann, Beat

2010-01-01

Background The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these patients due to mutations in the PLOD1 gene. Case Presentation We report a 17-year-old boy, born to related parents, with severe kyphoscoliosis, scar formation, joint hypermobility and multiple dislocations, muscular weakness, rupture of an ocular globe, and a history of severe infantile hypotonia. EDS VI was suspected clinically and confirmed by an elevated ratio of urinary total lysyl pyridinoline to hydroxylysyl pyridinoline, abnormal electrophoretic mobility of the α-collagen chains, and mutation analysis. Conclusion Because of the high rate of consanguineous marriages in Iran and, as a consequence thereof, an increased rate of autosomal recessive disorders, we urge physicians to consider EDS VI in the differential diagnosis of severe infantile hypotonia and muscular weakness, a disorder which can easily be confirmed by the analysis of urinary pyridinolines that is highly specific, sensitive, robust, fast, non-invasive, and inexpensive. PMID:23056730

The influence of joint hypermobility on functional movement control in an elite netball population: A preliminary cohort study.

PubMed

Soper, Kessie; Simmonds, Jane V; Kaz Kaz, Hanadi; Ninis, Nelly

2015-05-01

To ascertain the prevalence of General Joint Hypermobility (GJH) and Joint Hypermobility Syndrome (JHS) in elite level netballers. To investigate whether GJH influences functional movement control and explore whether symptoms of dysautonomia are reported in this population. Observational within-subject cross-sectional design. Field based study. 27 elite level netballers (14-26 years). GJH and JHS were assessed using the Beighton scale, 5 point questionnaire and the Brighton Criteria. Functional movement control was measured using posturography on a force platform and the Star Excursion Balance Test (SEBT). The prevalence of GJH was 63% (n = 17) (Beighton score ≥4/9) and JHS was 15% (n = 4). Symptoms of dysautonomia were minimally prevalent. A trend was observed in which participants with GJH demonstrated increased postural instability on the functional tests. Following Bonferroni adjustment, this was statistically significant only when comparing posturographic data between the distinctly hypermobile participants and the rest of the group for path area (p = 0.002) and velocity (p = 0.002) on the left side. A high prevalence of GJH was observed. A trend towards impairment of functional movement control was observed in the netballers with GJH. This observation did not reach statistical significance except for posturographic path area and velocity. Copyright © 2014 Elsevier Ltd. All rights reserved.

Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.

PubMed

Fikree, A; Aziz, Q; Sifrim, D

2017-06-01

The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment. Esophageal physiology parameters were examined in JHS, subdivided by PoTS status. Fifty-three percent of JHS patients with reflux symptoms had pathological acid reflux, 21% had reflux hypersensitivity, and 25% had functional heartburn. Acid exposure was more likely to be increased in the recumbent than upright position (64% vs 43%). The prevalence of hypotensive lower esophageal sphincter (33%) and hiatus hernia (33%) was low. Forty percent of patients with dysphagia had minor disorders of motility, 60% had functional dysphagia. Eighteen (60%) patients had coexistent PoTS-they had significantly higher dysphagia (21 vs 11.5, P=.04) and reflux scores (24.5 vs 16.5, P=.05), and double the prevalence of pathological acid reflux (64% vs 36%, P=.1) and esophageal dysmotility (50% vs 25%, P=.2) though this was not significant. A large proportion of JHS patients with esophageal symptoms have true reflux-related symptoms or mild esophageal hypomotility, and this is more likely if they have PoTS. © 2017 John Wiley & Sons Ltd.

Cervical spine joint hypermobility: a possible predisposing factor for new daily persistent headache.

PubMed

Rozen, T D; Roth, J M; Denenberg, N

2006-10-01

The objective of this study was to suggest that joint hypermobility (specifically of the cervical spine) is a predisposing factor for the development of new daily persistent headache (NDPH). Twelve individuals (10 female, 2 male) with primary NDPH were evaluated by one of two physical therapists. Each patient was tested for active cervical range of motion and for the presence of excessive intersegmental vertebral motion in the cervical spine. All patients were screened utilizing the Beighton score, which determines degree of systemic hypermobility. Eleven of the 12 NDPH patients were found to have cervical spine joint hypermobility. Ten of the 12 NDPH patients had evidence of widespread joint hypermobility with the Beighton score. Based on our findings we suggest that joint hypermobility, specifically of the cervical spine, may be a predisposing factor for the development of NDPH.

Benign Joint Hypermobility Minimally Impacts Autonomic Abnormalities in Pediatric Subjects with Chronic Functional Pain Disorders.

PubMed

Chelimsky, Gisela; Kovacic, Katja; Simpson, Pippa; Nugent, Melodee; Basel, Donald; Banda, Julie; Chelimsky, Thomas

2016-10-01

To determine if children with benign joint hypermobility (BJH) syndrome and chronic functional pain disorders have more autonomic dysfunction. Retrospective chart review study of pediatric patients seen in the pediatric neurogastroenterology and autonomic clinic who underwent autonomic testing and had either a Beighton score of ≥6 and met Brighton criteria for BJH (with BJH) or a score of ≤2 (no BJH). Twenty-one female subjects (10 without BJH) met inclusion criteria; 64% of BJH had diagnosis confirmed by genetics consultation. We evaluated for postural tachycardia syndrome, syncope, orthostatic intolerance, and orthostatic hypotension. None of these diagnoses, as well as baseline heart rate, peak heart rate in first 10 minutes of head up tilt (P = .35 and P = .61, respectively), and sudomotor index (suggestive of autonomic neuropathy) (P = .58), showed differences between the groups. Age of onset of symptoms was also similar (P = .61) (BJH vs without BJH: median [range]:15.6 years [12.9-17.5] vs 15.4 years [11.1-18.2]). There was no difference between groups in complaints of migraine, chronic nausea, chronic fatigue, lightheadedness, dizziness, fainting >3 times/lifetime, delayed onset of sleep, irritable bowel syndrome, dyspepsia, abdominal migraine, functional abdominal pain, constipation, or fibromyalgia. Children with chronic functional pain disorders and BJH have autonomic testing findings and comorbid features compared with a similar cohort of subjects without BJH, suggesting that BJH is not the driver of the autonomic and comorbid disorders. Copyright © 2016. Published by Elsevier Inc.

Haemorrhoids and joint hypermobility: a new extra-articular association.

PubMed

Yousif, Uqba N; Bird, Howard A

2013-04-01

An association has been demonstrated between haemorrhoids and joint hypermobility. Reasons for this are discussed. Many performing artists are hypermobile and the extra-articular features of joint hypermobility should not be forgotten or underestimated as a potential constraint upon performance.

Risk factors for development of non-specific musculoskeletal pain in preteens and early adolescents: a prospective 1-year follow-up study

PubMed Central

El-Metwally, Ashraf; Salminen, Jouko J; Auvinen, Anssi; Macfarlane, Gary; Mikkelsson, Marja

2007-01-01

Background Musculoskeletal pain symptoms are common in children and adolescents. These symptoms have a negative impact on children's physical and emotional well-being, but their underlying aetiology and risk factors are still poorly understood. Most of the previous cohort studies were conducted among mid and/or late adolescents and were mainly focused on a specific pain location (e.g. low back pain or neck pain). The purpose of this study is to estimate occurrence of new-onset pain symptoms, in all musculoskeletal locations, in preteens and early adolescents and investigate risk factors for development of these symptoms. Methods 1756 schoolchildren (mean age 10.8) were recruited from schools in southern Finland. Information was extracted as to whether they experienced musculoskeletal pain and a total of 1192 children were identified as free of musculoskeletal pain symptoms. Information was collected on factors which could potentially predict the development of musculoskeletal pain: headache, abdominal pain, sadness/feeling down, day-time tiredness, difficulty in falling asleep, waking up during nights, level of physical activity and hypermobility. These children were followed-up 1-year later and those with new episodes of non-traumatic and traumatic musculoskeletal pain symptoms were identified. Results A total of 1113 schoolchildren (93% of baseline pain-free children) were found at one-year follow-up. New episodes of musculoskeletal pain were reported by 21.5% of these children. Of them 19.4% reported non-traumatic pain and 4.0% reported traumatic pain. The neck was the most commonly reported site with non-traumatic pain, while the lower limb was the most common site for traumatic pain. The independent risk factors for non-traumatic musculoskeletal pain were headache (OR = 1.68, [95% CI 1.16–2.44]) and day-time tiredness (OR = 1.53, [95% CI 1.03–2.26]). The risk factors for traumatic musculoskeletal pain were vigorous exercise (OR = 3.40 [95% CI 1.39–8.31]) and day-time tiredness (OR = 2.97 [95% CI 1.41–6.26]). Conclusion This study highlights that there may be two types of pain entities with both distinct and common aspects of aetiology. For primary prevention purposes, school healthcare professionals should pay attention to preteens and early adolescents practicing vigorous exercise (predictor of traumatic pain), reporting headache (predictor of non-traumatic pain) and reporting day-time tiredness (predictor of both types of pain). PMID:17521435

Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

PubMed Central

Hermanns-Lê, Trinh; Reginster, Marie-Annick; Piérard-Franchimont, Claudine; Delvenne, Philippe; Piérard, Gérald E.; Manicourt, Daniel

2012-01-01

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH. PMID:23091361

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

PubMed

Demirdas, S; Dulfer, E; Robert, L; Kempers, M; van Beek, D; Micha, D; van Engelen, B G; Hamel, B; Schalkwijk, J; Loeys, B; Maugeri, A; Voermans, N C

2017-03-01

The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Included were 17 patients of 11 families with autosomal recessive inheritance and childhood onset. All patients had hyperextensible skin without atrophic scarring. Hypermobility of the joints was observed in 16 of 17 patients. Deformities of the hands and feet were observed frequently. TNX serum level was tested and absent in 11 patients (seven families). Genetic testing was performed in all families; 12 different mutations were detected, most of which are suspected to lead to non-sense mRNA mediated decay. In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Bayesian analysis of factors associated with fibromyalgia syndrome subjects

NASA Astrophysics Data System (ADS)

Jayawardana, Veroni; Mondal, Sumona; Russek, Leslie

2015-01-01

Factors contributing to movement-related fear were assessed by Russek, et al. 2014 for subjects with Fibromyalgia (FM) based on the collected data by a national internet survey of community-based individuals. The study focused on the variables, Activities-Specific Balance Confidence scale (ABC), Primary Care Post-Traumatic Stress Disorder screen (PC-PTSD), Tampa Scale of Kinesiophobia (TSK), a Joint Hypermobility Syndrome screen (JHS), Vertigo Symptom Scale (VSS-SF), Obsessive-Compulsive Personality Disorder (OCPD), Pain, work status and physical activity dependent from the "Revised Fibromyalgia Impact Questionnaire" (FIQR). The study presented in this paper revisits same data with a Bayesian analysis where appropriate priors were introduced for variables selected in the Russek's paper.

Musculoskeletal and neurological injuries associated with work organization among immigrant Latino women manual workers in North Carolina.

PubMed

Arcury, Thomas A; Cartwright, Michael S; Chen, Haiying; Rosenbaum, Daryl A; Walker, Francis O; Mora, Dana C; Quandt, Sara A

2014-04-01

This analysis examines the associations of work organization attributes among Latino women in manual occupations with musculoskeletal and neurological injuries. Participants included 234 women in western North Carolina. Outcome measures included epicondylitis, rotator cuff syndrome, back pain, and carpal tunnel syndrome. Independent measures included indicators of job demand, job control, and job support, as well as personal characteristics. Latina workers commonly experienced epicondylitis, rotator cuff syndrome, back pain, and CTS. Awkward posture and decision latitude were associated with epicondylitis. Rotator cuff syndrome was associated with awkward posture and psychological demand. Awkward posture and psychological demand, and decreased skill variety and job control were related to CTS. Work organization factors are potentially important for musculoskeletal and neurological injury among vulnerable workers. Research is required to understand the associations of work and health outcomes of these women. Policy initiatives need to consider how work organization affects health. © 2014 Wiley Periodicals, Inc.

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.

PubMed

Nam, Hyo-Kyoung; Nam, Myung-Hyun; Ha, Kee-Soo; Rhie, Young-Jun; Lee, Kee-Hyoung

2017-03-01

Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c.2810G >A variation in the FBN1 gene in the patient, but not in her parents. To our knowledge, this sequence variant has been reported as a polymorphism (rs113602180), but it is the first report identifying it as the genetic cause of Marfan syndrome. We hypothesize that this de novo novel missense FBN1 mutation disrupts fibrillin-1 function and is probably involved in the development of Marfan syndrome in this patient. © 2017 by the Association of Clinical Scientists, Inc.

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study.

PubMed

De Baets, Stijn; Vanhalst, Marieke; Coussens, Marieke; Rombaut, Lies; Malfait, Fransiska; Van Hove, Geert; Calders, Patrick; Vanderstraeten, Guy; van de Velde, Dominique

2017-01-01

The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. A phenomenological-hermeneutical study, using in-depth interviews. Patients were selected by a purposive sampling strategy. This study shows that the EDS-HT syndrome affects daily life. Ten woman between 31 and 65 years were interviewed. They have between 2 and 5 children. The data analysis results in six themes. (1) Getting a diagnosis is a relief and supports the choice to become a mother; (2) EDS-HT causes emotional distress, imposes a physical burden and has a major impact on social behavior; (3) EDS-HT demands a restructuring of everyday activities; (4) Children's and mothers' expectations do not correspond; (5) Having a supportive social and physical environment is of major importance; (6) The presence of the child reduces the feeling of illness of the mother. The diagnosis of EDS-HT is a catalysing factor in the choice of whether or not to become a mother. EDS-HT has a huge impact on bodily functions, which in turn influences activities and participation. This study gives insight in the activities of daily life of persons with EDS-HT. Health care professionals can be of great importance to help patients in (re)organizing their lives according to the available energy and in supporting their choices. They can help defining goals and setting priorities in daily life. Copyright © 2016 Elsevier Ltd. All rights reserved.

Myofascial pain syndrome: a treatment review.

PubMed

Desai, Mehul J; Saini, Vikramjeet; Saini, Shawnjeet

2013-06-01

Myofascial pain syndrome (MPS) is defined as pain that originates from myofascial trigger points in skeletal muscle. It is prevalent in regional musculoskeletal pain syndromes, either alone or in combination with other pain generators. The appropriate evaluation and management of myofascial pain is an important part of musculoskeletal rehabilitation, and regional axial and limb pain syndromes. This article reviews the current hypotheses regarding the treatment modalities for myofascial trigger points and muscle pain. Through a critical evidence-based review of the pharmacologic and nonpharmacologic treatments, the authors aim to provide clinicians with a more comprehensive knowledge of the interventions for myofascial pain.

Development and initial validation of the Bristol Impact of Hypermobility questionnaire.

PubMed

Palmer, S; Cramp, F; Lewis, R; Gould, G; Clark, E M

2017-06-01

Stage 1 - to identify the impact of joint hypermobility syndrome (JHS) on adults; Stage 2 - to develop a questionnaire to assess the impact of JHS; and Stage 3 - to undertake item reduction and establish the questionnaire's concurrent validity. A mixed methods study employing qualitative focus groups and interviews (Stage 1); a working group of patients, clinicians and researchers, and 'think aloud' interviews (Stage 2); and quantitative analysis of questionnaire responses (Stage 3). Stages 1 and 2 took place in one secondary care hospital in the UK. Members of a UK-wide patient organisation were recruited in Stage 3. In total, 15, four and 615 participants took part in Stages 1, 2 and 3, respectively. Inclusion criteria were: age ≥18 years; diagnosis of JHS; no other conditions affecting physical function; able to give informed consent; and able to understand and communicate in English. None. The development of a questionnaire to assess the impact of JHS. Stage 1 identified a wide range of impairments, activity limitations and participation restrictions In Stage 2, a draft questionnaire was developed and refined following 'think aloud' analysis, leaving 94 scored items. In Stage 3, items were removed on the basis of low severity and/or high correlation with other items. The final Bristol Impact of Hypermobility (BIoH) questionnaire had 55 scored items, and correlated well with the physical component score of the Short Form 36 health questionnaire (r=-0.725). The BIoH questionnaire demonstrated good concurrent validity. Further psychometric properties need to be established. Copyright © 2016 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

A prospective cohort study investigating the effect of generalized joint hypermobility on outcomes after arthroscopic anterior shoulder stabilization.

PubMed

Koyonos, Loukas; Kraeutler, Matthew J; O'Brien, Daniel F; Ciccotti, Michael G; Dodson, Christopher C

2016-11-01

Generalized joint laxity has been proposed as a significant risk factor for failure after arthroscopic anterior shoulder stabilization. The purpose of this study was to prospectively measure joint mobility in patients undergoing arthroscopic anterior shoulder stabilization and to determine whether hypermobility is a risk factor for worse outcomes compared with patients having normal joint mobility. Patients with anterior shoulder instability were prospectively enrolled. Generalized joint hypermobility was measured using the Beighton Hypermobility Score and the Rowe, UCLA, SANE, SST, and WOSI scores were administered and reported as patient outcomes preoperatively and following arthroscopic anterior shoulder stabilization at 6 weeks, 6 months, 12 months, and 24 months postoperatively. Patients were stratified into two groups based on their Beighton Hypermobility Score, with scores ≥ 4/9 indicative of joint hypermobility. Sixteen patients with joint hypermobility (JH) and 18 non-hypermobile patients (NJH) were enrolled. At baseline, there were no significant differences in demographic characteristics or baseline patient-reported outcomes. Significantly more patients in the NJH group had SLAP tears (n = 10) compared to the JH group (n = 2) (p = .013). At all follow-up times, there were no significant differences between the NJH and JH groups with regard to patient-reported outcome scores (p > .05). In the JH group, 17% of patients reported recurrent instability at two years postoperatively compared to 25% of patients in the NJH group. There was no significant difference in failure rate (p = .67). There was no significant difference in patient-reported outcomes or recurrent instability in patients with versus without joint hypermobility undergoing arthroscopic anterior shoulder stabilization.

The WISTAH hand study: A prospective cohort study of distal upper extremity musculoskeletal disorders

PubMed Central

2012-01-01

Background Few prospective cohort studies of distal upper extremity musculoskeletal disorders have been performed. Past studies have provided somewhat conflicting evidence for occupational risk factors and have largely reported data without adjustments for many personal and psychosocial factors. Methods/design A multi-center prospective cohort study was incepted to quantify risk factors for distal upper extremity musculoskeletal disorders and potentially develop improved methods for analyzing jobs. Disorders to analyze included carpal tunnel syndrome, lateral epicondylalgia, medial epicondylalgia, trigger digit, deQuervain’s stenosing tenosynovitis and other tendinoses. Workers have thus far been enrolled from 17 different employment settings in 3 diverse US states and performed widely varying work. At baseline, workers undergo laptop administered questionnaires, structured interviews, two standardized physical examinations and nerve conduction studies to ascertain demographic, medical history, psychosocial factors and current musculoskeletal disorders. All workers’ jobs are individually measured for physical factors and are videotaped. Workers are followed monthly for the development of musculoskeletal disorders. Repeat nerve conduction studies are performed for those with symptoms of tingling and numbness in the prior six months. Changes in jobs necessitate re-measure and re-videotaping of job physical factors. Case definitions have been established. Point prevalence of carpal tunnel syndrome is a combination of paraesthesias in at least two median nerve-served digits plus an abnormal nerve conduction study at baseline. The lifetime cumulative incidence of carpal tunnel syndrome will also include those with a past history of carpal tunnel syndrome. Incident cases will exclude those with either a past history or prevalent cases at baseline. Statistical methods planned include survival analyses and logistic regression. Discussion A prospective cohort study of distal upper extremity musculoskeletal disorders is underway and has successfully enrolled over 1,000 workers to date. PMID:22672216

The WISTAH hand study: a prospective cohort study of distal upper extremity musculoskeletal disorders.

PubMed

Garg, Arun; Hegmann, Kurt T; Wertsch, Jacqueline J; Kapellusch, Jay; Thiese, Matthew S; Bloswick, Donald; Merryweather, Andrew; Sesek, Richard; Deckow-Schaefer, Gwen; Foster, James; Wood, Eric; Kendall, Richard; Sheng, Xiaoming; Holubkov, Richard

2012-06-06

Few prospective cohort studies of distal upper extremity musculoskeletal disorders have been performed. Past studies have provided somewhat conflicting evidence for occupational risk factors and have largely reported data without adjustments for many personal and psychosocial factors. A multi-center prospective cohort study was incepted to quantify risk factors for distal upper extremity musculoskeletal disorders and potentially develop improved methods for analyzing jobs. Disorders to analyze included carpal tunnel syndrome, lateral epicondylalgia, medial epicondylalgia, trigger digit, deQuervain's stenosing tenosynovitis and other tendinoses. Workers have thus far been enrolled from 17 different employment settings in 3 diverse US states and performed widely varying work. At baseline, workers undergo laptop administered questionnaires, structured interviews, two standardized physical examinations and nerve conduction studies to ascertain demographic, medical history, psychosocial factors and current musculoskeletal disorders. All workers' jobs are individually measured for physical factors and are videotaped. Workers are followed monthly for the development of musculoskeletal disorders. Repeat nerve conduction studies are performed for those with symptoms of tingling and numbness in the prior six months. Changes in jobs necessitate re-measure and re-videotaping of job physical factors. Case definitions have been established. Point prevalence of carpal tunnel syndrome is a combination of paraesthesias in at least two median nerve-served digits plus an abnormal nerve conduction study at baseline. The lifetime cumulative incidence of carpal tunnel syndrome will also include those with a past history of carpal tunnel syndrome. Incident cases will exclude those with either a past history or prevalent cases at baseline. Statistical methods planned include survival analyses and logistic regression. A prospective cohort study of distal upper extremity musculoskeletal disorders is underway and has successfully enrolled over 1,000 workers to date.

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.

PubMed

Rowe, P C; Barron, D F; Calkins, H; Maumenee, I H; Tong, P Y; Geraghty, M T

1999-10-01

To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. Case series of adolescents referred to a tertiary clinic for the evaluation of CFS. All subjects had 2-dimensional echocardiography, tests of orthostatic tolerance, and examinations by both a geneticist and an ophthalmologist. Twelve patients (11 female), median age 15.5 years, met diagnostic criteria for CFS and EDS, and all had either postural tachycardia or neurally mediated hypotension in response to orthostatic stress. Six had classical-type EDS and 6 had hypermobile-type EDS. Among patients with CFS and orthostatic intolerance, a subset also has EDS. We propose that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences. These observations suggest that a careful search for hypermobility and connective tissue abnormalities should be part of the evaluation of patients with CFS and orthostatic intolerance syndromes.

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

PubMed

Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun-Ichi; Kurosawa, Kenji

2018-03-09

Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12-67 of COL5A1. © 2018 Japanese Teratology Society.

Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome?

PubMed

Yilmaz, Ugur; Bird, Thomas T; Carter, Gregory T; Wang, Leo H; Weiss, Michael D

2015-03-01

This study characterizes the nature of pain in hereditary neuropathy with liability to pressure palsy (HNPP). This retrospective study was performed to assess duration, nature, location, and intensity of pain on initial presentation of subjects with HNPP, including the degree and type of analgesic medication use and electrodiagnostic characteristics. Subjects who met the American College of Rheumatology criteria for fibromyalgia syndrome (FMS) were also identified. Of 32 HNPP subjects, 24 (75%) had symptoms of pain, and 4 (12%) had pain as an initial symptom. Of subjects who described pain, 9 (28%) reported only musculoskeletal pain, 10 (31%) only neuropathic pain, and 5 (16%) both musculoskeletal and neuropathic pain. All 9 subjects with only musculoskeletal pain met criteria for FMS. Neuropathic and musculoskeletal pain occur commonly in HNPP and may be a presenting symptom. Additionally, HNPP with predominantly musculoskeletal pain may meet criteria for FMS and potentially delay the diagnosis. © 2014 Wiley Periodicals, Inc.

Patients with Ehlers Danlos syndrome and CRPS: a possible association?

PubMed

Stoler, Joan M; Oaklander, Anne Louise

2006-07-01

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disorders of connective tissue. These patients had been diagnosed using standard diagnostic criteria for CRPS and for EDS. All had sustained joint injury; in three this had been surgically treated. The association of these two diagnoses leads us to hypothesize that EDS might contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, increased fragility of nerve connective tissue, or nerve trauma from more frequent surgery. We review the clinical presentation of the different Ehlers Danlos syndromes and provide clinical criteria that can be used to screen CRPS patients for EDS for clinical or research purposes.

Correlation between hypermobility score and injury rate in artistic gymnastics.

PubMed

Bukva, Bojan; Vrgoč, Goran; Madić, Dejan; Sporiš, Goran; Trajković, Nebojša

2018-01-10

Generalized Joint Hypermobility (GJH) is suggested as a contributing factor for injuries in young athletes and adults. It is presumed that GJH causes decreased joint stability, thereby increasing the risk of joint and soft tissue injuries during sports activities. The aim of this study was to determine the correlation between the hypermobility rate (using the Beighton`s modification of the Carter-Wilkinson criteria of hypermobility) in gymnasts and injury rate, during the period of one year. This study observed 24 artistic gymnasts (11-26 years old), members of Qatar National Team in artistic gymnastics. We examined the Beighton joint hypermobility screen and a seasonal injury survey. The gymnasts characteristics (age, gender) and gymnastics characteristics (training per day and number of years in training artistic gymnastics) and its' relations to injury rate were also included. The most common injury was the lower back pain injury, followed by knee, shoulder, hip and ankle injuries. We found strong correlation of number of years gymnastics training and injury rate (p<0.001). There is no significant correlation in the numbers of hours training during one week and hypermobility score to numbers of injuries (p>0.05). According to this study there is no correlation between GJH rate and injury rate in artistic gymnasts in Qatar. Total training period in gymnastics have greater contribution in injury rate.

Physiotherapy management of joint hypermobility syndrome--a focus group study of patient and health professional perspectives.

PubMed

Palmer, S; Terry, R; Rimes, K A; Clark, C; Simmonds, J; Horwood, J

2016-03-01

To develop an understanding of patient and health professional views and experiences of physiotherapy to manage joint hypermobility syndrome (JHS). An explorative qualitative design. Seven focus groups were convened, audio recorded, fully transcribed and analysed using a constant comparative method to inductively derive a thematic account of the data. Four geographical areas of the U.K. 25 people with JHS and 16 health professionals (14 physiotherapists and two podiatrists). Both patients and health professionals recognised the chronic heterogeneous nature of JHS and reported a lack of awareness of the condition amongst health professionals, patients and wider society. Diagnosis and subsequent referral to physiotherapy services for JHS was often difficult and convoluted. Referral was often for acute single joint injury, failing to recognise the long-term multi-joint nature of the condition. Health professionals and patients felt that if left undiagnosed, JHS was more difficult to treat because of its chronic nature. When JHS was treated by health professionals with knowledge of the condition patients reported satisfactory outcomes. There was considerable agreement between health professionals and patients regarding an 'ideal' physiotherapy service. Education was reported as an overarching requirement for patients and health care professionals. Physiotherapy should be applied holistically to manage JHS as a long-term condition and should address injury prevention and symptom amelioration rather than cure. Education for health professionals and patients is needed to optimise physiotherapy provision. Further research is required to explore the specific therapeutic actions of physiotherapy for managing JHS. Copyright © 2015 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

Position Statement of the Israeli Society for Musculoskeletal Medicine on Intramuscular Stimulation for Myofascial Pain Syndrome-A Delphi Process.

PubMed

Ratmansky, Motti; Minerbi, Amir; Kalichman, Leonid; Kent, John; Wende, Osnat; Finestone, Aharon S; Vulfsons, Simon

2017-04-01

To develop consensus on a position paper on the use of intramuscular stimulation (IMS) for the treatment of myofascial pain syndrome (MPS) by physicians in Israel. The Israeli Society of Musculoskeletal Medicine ran a modified Delphi process to gather opinions from a multidisciplinary expert panel. Eight experts in the treatment of MPS were chosen and asked to participate, and six participated. The position paper was iterated three times. After three iterations, general consensus was reached by all six experts. The general statement that was agreed on was: "IMS is one of the preferred treatments for myofascial pain syndrome. The treatment is evidence-based, effective, safe, and inexpensive. The position of the Israeli Society of Musculoskeletal Medicine is that the treatment should be taught and used by all primary care physicians and those physicians in other areas of medicine who deal with pain in their work." The position paper is a basis for clinical work and education programs for physicians interested in a better understanding and ability to treat patients with a musculoskeletal complaint or manifestation of disease. © 2016 World Institute of Pain.

Nocturnal motor activity in fibromyalgia patients with poor sleep quality.

PubMed

Hyyppä, M T; Kronholm, E

1995-01-01

Nocturnal motor activity was examined in long-term rehabilitation patients complaining of poor sleep and having fibromyalgia syndrome (N = 24) or other musculoskeletal disorders (N = 60) and compared with that in 91 healthy controls drawn from a random community sample. Self-reports on sleep complaints and habits were collected. The frequency of nocturnal body movements, the "apnoea" index and ratio of "quiet sleep" to total time in bed were measured using the Static Charge Sensitive Bed (SCSB) (BioMatt). As a group, patients with fibromyalgia syndrome did not differ from patients with other musculoskeletal disorders or from healthy controls in their nocturnal motor activity. The "apnoea" index was a little higher in the fibromyalgia group than in the healthy control group but did not differ from that of the group of other musculoskeletal patients. Further multivariate analyses adjusted for age, BMI, medication and "apnoea" index did not support the assumption that an increased nocturnal motor activity characterizes patients with fibromyalgia syndrome.

MRI of lower extremity impingement and friction syndromes in children

PubMed Central

Aydıngöz, Üstün; Özdemir, Zeynep Maraş; Güneş, Altan; Ergen, Fatma Bilge

2016-01-01

Although generally more common in adults, lower extremity impingement and friction syndromes are also observed in the pediatric age group. Encompassing femoroacetabular impingement, iliopsoas impingement, subspine impingement, and ischiofemoral impingement around the hip; patellar tendon–lateral femoral condyle friction syndrome; iliotibial band friction syndrome; and medial synovial plica syndrome in the knee as well as talocalcaneal impingement on the hindfoot, these syndromes frequently cause pain and may mimic other, and occasionally more ominous, conditions in children. Magnetic resonance imaging (MRI) plays a key role in the diagnosis of musculoskeletal impingement and friction syndromes. Iliopsoas, subspine, and ischiofemoral impingements have been recently described, while some features of femoroacetabular and talocalcaneal impingements have recently gained increased relevance in the pediatric population. Fellowship-trained pediatric radiologists and radiologists with imaging workloads of exclusively or overwhelmingly pediatric patients (particularly those without a structured musculoskeletal imaging program as part of their imaging training) specifically need to be aware of these rare syndromes that mostly have quite characteristic imaging findings. This review highlights MRI features of lower extremity impingement and friction syndromes in children and provides updated pertinent pathophysiologic and clinical data. PMID:27538047

Musculoskeletal pain in obese adolescents.

PubMed

Jannini, Suely Nóbrega; Dória-Filho, Ulysses; Damiani, Durval; Silva, Clovis Artur Almeida

2011-01-01

To determine the prevalence of pain, musculoskeletal syndromes, orthopedic disorders and using computers and playing videogames among obese adolescents. This was a cross-sectional study that investigated 100 consecutive obese adolescents and 100 healthy-weight controls using a confidential, self-report questionnaire covering demographic data, sports participation, painful musculoskeletal system symptoms and using computers and playing videogames. The questionnaire's test-retest reliability was tested. Physical examination covered six musculoskeletal syndromes and seven orthopedic disorders. The kappa index for test-retest was 0.724. Pain and musculoskeletal syndromes were equally prevalent in both groups (44 vs. 56%, p = 0.09; 12 vs. 16%, p = 0.541; respectively). Notwithstanding, orthopedic disorders (98 vs. 76%, p = 0.0001), tight quadriceps (89 vs. 44%, p = 0.0001) and genu valgum (87 vs. 24%, p = 0.0001) were significantly more prevalent in obese adolescents than in controls. Median time spent using a computer the day before, on Saturdays and on Sundays were all lower among the obese subjects (30 vs. 60 minutes, p = 0.0001; 1 vs. 60 minutes, p = 0.001; and 0 vs. 30 minutes, p = 0.02; respectively). Obese adolescents were less likely to play handheld videogames (2 vs. 11%, p = 0.003) and there was no difference in the two groups' use of full-sized videogames (p > 0.05). Comparing obese adolescents with pain to those free from pain revealed that pain was more frequent among females (59 vs. 39%, p = 0.048) and was associated with greater median time spent playing on Sundays [0 (0-720) vs. 0 (0-240) minutes, p = 0.028]. Obesity can cause osteoarticular system damage at the start of adolescence, particularly to the lower limbs. Programs developed specifically for obese female adolescents with musculoskeletal pain are needed.

Behcet's Syndrome

MedlinePlus

Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

PubMed

Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina

2016-08-01

FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506-binding family of peptidyl-prolyl cis-trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature. This evaluation confirms that kyphoscoliosis (either progressive or non-progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. Since the patient showed a severe cardiovascular event in childhood and atlantoaxial instability, this report expands the phenotype of the disorder and the allelic repertoire of FKBP14. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

PubMed

Houx, Laetitia; Hachulla, Eric; Kone-Paut, Isabelle; Quartier, Pierre; Touitou, Isabelle; Guennoc, Xavier; Grateau, Gilles; Hamidou, Mohamed; Neven, Bénédicte; Berthelot, Jean-Marie; Lequerré, Thierry; Pillet, Pascal; Lemelle, Irène; Fischbach, Michel; Duquesne, Agnès; Le Blay, Pierre; Le Jeunne, Claire; Stirnemann, Jérome; Bonnet, Christine; Gaillard, Dominique; Alix, Lilian; Touraine, Renaud; Garcier, François; Bedane, Christophe; Jurquet, Anne-Laure; Duffau, Pierre; Smail, Amar; Frances, Camille; Grall-Lerosey, Martine; Cathebras, Pascal; Tran, Tu Anh; Morell-Dubois, Sandrine; Pagnier, Anne; Richez, Christophe; Cuisset, Laurence; Devauchelle-Pensec, Valérie

2015-11-01

To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS). We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test. The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes. Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time. © 2015, American College of Rheumatology.

[Myofascial pain syndrome--frequent occurrence and often misdiagnosed].

PubMed

Pongratz, D E; Späth, M

1998-09-30

Myofascial pain syndrome (MPS) is a very common localized--sometimes also polytopic--painful musculoskeletal condition associated with trigger points, for which, however, diagnostic criteria established in well-designed studies are still lacking. These two facts form the basis for differentiating between MPS and the fibromyalgia syndrome. The difference between trigger points (MPS) and tender points (fibromyalgia) is of central importance--not merely in a linguistic sense. A knowledge of the signs and symptoms typically associated with a trigger point often obviates the need for time-consuming and expensive technical diagnostic measures. The assumption that many cases of unspecific complaints affecting the musculoskeletal system may be ascribed to MPS makes clear the scope for the saving of costs.

A prospective evaluation of undiagnosed joint hypermobility syndrome in patients with gastrointestinal symptoms.

PubMed

Fikree, Asma; Grahame, Rodney; Aktar, Rubina; Farmer, Adam D; Hakim, Alan J; Morris, Joan K; Knowles, Charles H; Aziz, Qasim

2014-10-01

The Joint Hypermobility Syndrome (JHS) is a common connective tissue disorder characterized by joint hyperflexibility, dysautonomia, and chronic pain. Gastrointestinal (GI) symptoms are reported in JHS patients attending rheumatology clinics, but the prevalence and symptom pattern of previously undiagnosed JHS in GI clinics are unknown. By using validated questionnaires, a prospective cross-sectional study in secondary care GI clinics estimated the prevalence of JHS in new consecutively referred patients, compared GI symptoms in patients with and without JHS, and by using multiple regression determined whether the burden of GI symptoms in JHS patients was dependent on chronic pain, autonomic, psychological, and medication related factors. A positive control group consisted of JHS patients referred from rheumatology clinics with GI symptoms (JHS-Rh). From 552 patients recruited, 180 (33%) had JHS (JHS-G) and 372 did not (non-JHS-G). Forty-four JHS-Rh patients were included. JHS-G patients were more likely to be younger, female with poorer quality of life (P = .02) than non-JHS-G patients. After age and sex matching, heartburn (odds ratio [OR], 1.66; confidence interval [CI], 1.1-2.5; P = .01), water brash (OR, 2.02; CI, 1.3-3.1; P = .001), and postprandial fullness (OR, 1.74; CI, 1.2-2.6; P = .006) were more common in JHS-G vs non-JHS-G. Many upper and lower GI symptoms increased with increasing severity of JHS phenotype. Upper GI symptoms were dependent on autonomic and chronic pain factors. JHS is common in GI clinics, with increased burden of upper GI and extraintestinal symptoms and poorer quality of life. Recognition of JHS will facilitate multidisciplinary management of GI and extra-GI manifestations. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

PubMed

Grau, Christina; Starkovich, Molly; Azamian, Mahshid S; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R; Scott, Daryl A

2017-01-01

By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1). Deletions of this ~430 kb region have not been previously implicated in human disease. Duplications of GSPT2 have been documented in individuals with intellectual disability, but the phenotypic consequences of a loss of GSPT2 function have not been elucidated in humans or mouse models. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice. In all cases, the Xp11.22 deletion was inherited from an unaffected mother. Studies performed on DNA from one of these mothers did not show evidence of skewed X-inactivation. These results suggest that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 cause a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions.

Perspectives in ultrasound-guided musculoskeletal interventions

PubMed Central

Daftary, Aditya Ravindra; Karnik, Alpana Sudhir

2015-01-01

Ultrasonography (USG) is a safe, easily available, and cost-effective modality, which has the additional advantage of being real time for imaging and image-guided interventions of the musculoskeletal system. Musculoskeletal interventions are gaining popularity in sports and rehabilitation for rapid healing of muscle and tendon injuries in professional athletes, healing of chronic tendinopathies, aspiration of joint effusions, periarticular bursae and ganglia, and perineural injections in acute and chronic pain syndromes. This article aims to provide an overview of the spectrum of musculoskeletal interventions that can be done under USG guidance both for diagnostic and therapeutic purposes. PMID:26288519

Poland syndrome

PubMed Central

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

2014-01-01

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

Poland syndrome.

PubMed

Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K; Agrawal, Ravi P

2014-01-01

Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

Juvenile Fibromyalgia: Different from the Adult Chronic Pain Syndrome?

PubMed

Kashikar-Zuck, Susmita; King, Christopher; Ting, Tracy V; Arnold, Lesley M

2016-04-01

While a majority of research has focused on adult fibromyalgia (FM), recent evidence has provided insights into the presence and impact of FM in children and adolescents. Commonly referred as juvenile fibromyalgia (JFM), youths, particularly adolescent girls, present with persistent widespread pain and cardinal symptoms observed in adult FM. A majority of youth with JFM continue to experience symptoms into adulthood, which highlights the importance of early recognition and intervention. Some differences are observed between adult and juvenile-onset FM syndrome with regard to comorbidities (e.g., joint hypermobility is common in JFM). Psychological comorbidities are common but less severe in JFM. Compared to adult FM, approved pharmacological treatments for JFM are lacking, but non-pharmacologic approaches (e.g., cognitive-behavioral therapy and exercise) show promise. A number of conceptual issues still remain including (1) directly comparing similarities and differences in symptoms and (2) identifying shared and unique mechanisms underlying FM in adults and youths.

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).

PubMed

Loughlin, J; Irven, C; Hardwick, L J; Butcher, S; Walsh, S; Wordsworth, P; Sykes, B

1995-09-01

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree.

Joint hypermobility and headache: understanding the glue that binds the two together--part 1.

PubMed

Neilson, Derek; Martin, Vincent T

2014-09-01

Heritable connective tissue disorders (HCTD) present with a wide array of findings, including headache. Because of their unusual substrate, headaches in HCTD can derive from both common and uncommon circumstances. Literature review. Ehlers-Danlos hypermobile type can be recognized by multiple joint findings and its tendency to progress to a multisystem chronic pain syndrome. Ehlers-Danlos classic type also manifests joint laxity and similar pain complaints, but is differentiated by its skin laxity and fragility. Ehlers-Danlos vascular type presents the most severe risk due to blood vessel and hollow organ rupture. Marfan syndrome demonstrates skeletal abnormalities, lens dislocations, and aortic root dilation that can result in dissection. In a headache patient, recognizing the presence of an HCTD improves the strategy for diagnosis and management. A brief review of findings related to joints, skin, and arteries may prompt further investigation into the HCTDs. © 2014 American Headache Society.

Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.

PubMed

Sachdeva, Rohit; Donkers, Sarah J; Kim, Soo Y

2016-07-01

Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965-2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561-567, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

Heart failure: not a single organ disease but a multisystem syndrome.

PubMed

Warriner, David; Sheridan, Paul; Lawford, Patricia

2015-06-01

Heart failure is not simply a single organ disease; rather it is a complex multi-system clinical syndrome, with impairment of endocrine, haematological, musculoskeletal, renal, respiratory and vascular systems, which influence morbidity and mortality.

An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

PubMed

Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

2014-01-01

Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition.

Cardiovascular risk and metabolic syndrome in obese youth enrolled in a multidisciplinary medical weight management program: implications of musculoskeletal pain, cardiorespiratory fitness, and health-related quality of life.

PubMed

Briggs, Matthew S; Spees, Colleen; Bout-Tabaku, Sharon; Taylor, Christopher A; Eneli, Ihuoma; Schmitt, Laura C

2015-04-01

Obese youth demonstrate the same obesity-associated morbidities observed in obese adults, including poor cardiorespiratory fitness, poor quality of life, and reports of musculoskeletal pain. The purposes of this study were to compare the prevalence of cardiovascular risk factors and evaluate the odds of metabolic syndrome in obese youth based on measures of cardiorespiratory fitness, quality of life, and pain. A medical chart review of 183 obese youth in a medical weight management program was conducted. Measures of cardiovascular risk and metabolic syndrome were recorded. Groups were categorized based on Progressive Aerobic Cardiovascular Endurance Run (PACER) score, Pediatric Quality of Life (PedsQL)-Physical Function score, PedsQL-Psychosocial Health score, and reports of musculoskeletal pain. Statistical analysis included independent t-tests, Mann-Whitney U-test, chi-squared test, and logistic regression. Thirty-three percent of the entire sample had C-reactive protein (CRP) levels >3.0 mg/dL and 30% were categorized as having metabolic syndrome. Patients with lower PACER scores demonstrated a greater prevalence of CRP levels >3.0 mg/dL versus those with higher PACER scores (45% vs. 12%; P=0.01). There were no other differences in the prevalence of cardiovascular risk factors or metabolic syndrome when categorized by PACER, PedsQL, or pain. Those with CRP levels >3.0 mg/dL demonstrated increased odds of metabolic syndrome-[odds (95% confidence interval, CI): 4.93 (1.24-19.61); P=0.02]. Overall, results do not show differences in cardiovascular risk in obese youth when categorized by PACER, PedsQL, or reports of MSK pain. Elevated CRP may be a useful predictor of metabolic syndrome in obese youth and warrants further investigation.

Dermatological and musculoskeletal assessment of diabetic foot: A narrative review.

PubMed

Arsanjani Shirazi, Azam; Nasiri, Morteza; Yazdanpanah, Leila

2016-01-01

Diabetic Foot Syndrome (DFS) is the most costly and devastating complication of diabetes mellitus (DM), which early effective assessment can reduce the severity of complications including ulceration and amputations. This study aimed to review dermatological and musculoskeletal assessment of diabetic foot. In this review article, we searched for articles published between March 1, 1980 and July 28, 2015 in PubMed, Science Direct, Embase, Web of Science, and Scopus, for both English and non-English language articles with the following keywords: "Diabetic foot syndrome", "Ulceration", "Amputation", "Foot assessment", "Skin disorders" and "Musculoskeletal deformities". In dermatological dimension, most studies focused on elucidated changes in skin temperature, color, hardiness and turgor as well as common skin disorders such as Diabetic Dermopathy (DD), Necrobiosis Lipoidica Diabeticorum (NLD) and Diabetic Bullae (DB), which are common in diabetic patients and have high potential for leading to limb-threatening problems such as ulceration and infection. In musculoskeletal dimension, most studies focused on range of motion and muscle strength, gait patterns and as well as foot deformities especially Charcot osteoarthropathy (COA), which is the most destructive musculoskeletal complication of diabetes. DFS as a common condition in DM patients lead to ulceration and lower limb amputation frequently unless a prompt and comprehensive assessment was taken. So that dermatological and musculoskeletal assessments are usually neglected in primary health care, these assessments should be done frequently to reduce the high risk of serious complications. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

PubMed

Zaidi, Syed H E; Meyer, Sascha; Peltekova, Vanya D; Lindinger, Angelika; Teebi, Ahmad S; Faiyaz-Ul-Haque, Muhammad

2009-07-01

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue features, displays stomach displacement within the thorax and bilateral hip dislocation. Clinical details of this patient have been reported previously. Sequencing of the SLC2A10 gene identified a novel homozygous non-sense c.756C>A mutation in this patient's DNA. This mutation in the SLC2A10 gene replaces a cysteine encoding codon with a stop signal. This is believed to cause a premature truncation of GLUT10 protein in this patient. We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene.

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

PubMed

Jukkola, A; Kauppila, S; Risteli, L; Vuopala, K; Risteli, J; Leisti, J; Pajunen, L

1998-06-01

We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.

Seven genomic subtypes of chronic fatigue syndrome/myalgic encephalomyelitis: a detailed analysis of gene networks and clinical phenotypes.

PubMed

Kerr, J R; Burke, B; Petty, R; Gough, J; Fear, D; Mattey, D L; Axford, J S; Dalgleish, A G; Nutt, D J

2008-06-01

Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a multisystem disease, the pathogenesis of which remains undetermined. The authors have recently reported a study of gene expression that identified differential expression of 88 human genes in patients with CFS/ME. Clustering of quantitative PCR (qPCR) data from patients with CFS/ME revealed seven distinct subtypes with distinct differences in Medical Outcomes Survey Short Form-36 scores, clinical phenotypes and severity. In this study, for each CFS/ME subtype, those genes whose expression differed significantly from that of normal blood donors were identified, and then gene interactions, disease associations and molecular and cellular functions of those gene sets were determined. Genomic analysis was then related to clinical data for each CFS/ME subtype. Genomic analysis revealed some common (neurological, haematological, cancer) and some distinct (metabolic, endocrine, cardiovascular, immunological, inflammatory) disease associations among the subtypes. Subtypes 1, 2 and 7 were the most severe, and subtype 3 was the mildest. Clinical features of each subtype were as follows: subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression); subtype 2 (musculoskeletal, pain, anxiety/depression); subtype 3 (mild); subtype 4 (cognitive); subtype 5 (musculoskeletal, gastrointestinal); subtype 6 (postexertional); subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression). It was particularly interesting that in the seven genomically derived subtypes there were distinct clinical syndromes, and that those which were most severe were also those with anxiety/depression, as would be expected in a disease with a biological basis.

The role of burnout syndrome as a mediator for the effect of psychosocial risk factors on the intensity of musculoskeletal disorders: a structural equation modeling approach.

PubMed

Gholami, Tahereh; Pahlavian, Ahmad Heidari; Akbarzadeh, Mahdi; Motamedzade, Majid; Moghaddam, Rashid Heidari

2016-01-01

This study examined the hypothesis that burnout syndrome mediates effects of psychosocial risk factors and intensity of musculoskeletal disorders (MSDs) among hospital nurses. The sample was composed of 415 nurses from various wards across five hospitals of Iran's Hamedan University of Medical Sciences. Data were collected through three questionnaires: job content questionnaire, Maslach burnout inventory and visual analogue scale. Results of structural equation modeling with a mediating effect showed that psychosocial risk factors were significantly related to changes in burnout, which in turn affects intensity of MSDs.

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition.

PubMed

Stheneur, Chantal; Tubach, Florence; Jouneaux, Marlène; Roy, Carine; Benoist, Gregoire; Chevallier, Bertrand; Boileau, Catherine; Jondeau, Guillaume

2014-03-01

Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children. Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving β-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating. Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a β-blocker.

Fibromyalgia and Myofascial Pain Syndrome-A Dilemma

PubMed Central

Chandola, H C; Chakraborty, Arunangshu

2009-01-01

Summary Pain and fatigue associated to the musculoskeletal system are among the leading causes of patients to visit their physicians and nearly one-third of such patients suffer from fibromyalgia. Fibromyalgia syndrome (FMS) is a chronic debilitating disorder characterized by widespread pain with tenderness in specific areas, leading to fatigue, headache and sleep disorder. Myofascial Pain Syndrome (MPS), is also a localized musculoskeletal pain producing condition whose diagnostic and management criteria differ from FMS but still considered by many only a subtype of FMS. Till date no exact cause has been held responsible for these painful conditions, therefore treatment of these disorders is always a challenge. The therapies are not precise but multimodal including pharmacological and alternative approaches. This article describes the existing knowledge pertaining to these conditions in regard of causative factors diagnosis and management. PMID:20640108

[Peroral and transdermal application of non-steroidal anti-inflammatory drugs (NSAIDs) for the treatment of regional musculoskeletal pain syndromes].

PubMed

Hodinka, László; Bálint, Géza; Budai, Erika; Géher, Pál; Papp, Renáta; Somogyi, Péter; Szántó, Sándor; Vereckei, Edit

2017-12-01

In this review the available evidences regarding the most frequently applied medication (peroral and transdermal non-steroidal anti-inflammatory agents) for the most frequent musculoskeletal complaints (regional pain syndromes) have been collected for the appropriate medical professionals who are most frequently faced with these conditions (general practitioners, rheumatologists, orthopedics, occupational and sports medicine experts). The special population at risk (with repeated and high energy overuse because of occupational or sport activities) and the pathology of their syndromes are identified. Mode of action, pharmacological properties of the non-steroidal anti-inflammatory drugs and the unwanted effects of their application especially in infants and elderly are highlighted. Recommendations of the general and specific pain management guidelines have been selected and listed in the review. Orv Hetil. 2017; 158(Suppl. 3): 3-30.

The value of decision tree analysis in planning anaesthetic care in obstetrics.

PubMed

Bamber, J H; Evans, S A

2016-08-01

The use of decision tree analysis is discussed in the context of the anaesthetic and obstetric management of a young pregnant woman with joint hypermobility syndrome with a history of insensitivity to local anaesthesia and a previous difficult intubation due to a tongue tumour. The multidisciplinary clinical decision process resulted in the woman being delivered without complication by elective caesarean section under general anaesthesia after an awake fibreoptic intubation. The decision process used is reviewed and compared retrospectively to a decision tree analytical approach. The benefits and limitations of using decision tree analysis are reviewed and its application in obstetric anaesthesia is discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Musculoskeletal and rheumatic diseases induced by immune checkpoint inhibitors: a review of the literature.

PubMed

Benfaremo, Devis; Manfredi, Lucia; Luchetti, Michele Maria; Gabrielli, Armando

2018-05-08

Immune checkpoint inhibitors are a new promising class of antitumor drugs that have been associated to a number of immune-related adverse events (AEs), including musculoskeletal and rheumatic disease. We searched Medline reviewing reports of musculoskeletal and rheumatic AEs induced by immune checkpoint inhibitors. Several musculoskeletal and rheumatic AEs associated with immune checkpoint inhibitors treatment are reported in literature. In particular, arthralgia and myalgia were the most common reported AEs, whereas the prevalence of arthritis, myositis and vasculitis is less characterized and mainly reported in case series and case reports. Other occasionally described AEs are sicca syndrome, polymyalgia rheumatica, systemic lupus erythematosus and sarcoidosis. Newly induced musculoskeletal and rheumatic diseases are a frequent adverse event associated with immune checkpoint inhibitors treatment. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

The Disuse Syndrome

PubMed Central

Bortz II, Walter M.

1984-01-01

Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

38 CFR Appendix B to Part 4 - Numerical Index of Disabilities

Code of Federal Regulations, 2011 CFR

2011-07-01

... Diagnostic Code No. THE MUSCULOSKELETAL SYSTEM Acute, Subacute, or Chronic Diseases 5000 Osteomyelitis, acute... Intervertebral disc syndrome. Hip and Thigh 5250 Hip, ankylosis. 5251 Thigh, limitation of extension. 5252 Thigh.... 6204 Peripheral vestibular disorders. 6205 Meniere's syndrome. 6207 Loss of auricle. 6208 Malignant...

38 CFR Appendix B to Part 4 - Numerical Index of Disabilities

Code of Federal Regulations, 2010 CFR

2010-07-01

... Diagnostic Code No. THE MUSCULOSKELETAL SYSTEM Acute, Subacute, or Chronic Diseases 5000 Osteomyelitis, acute... Intervertebral disc syndrome. Hip and Thigh 5250 Hip, ankylosis. 5251 Thigh, limitation of extension. 5252 Thigh.... 6204 Peripheral vestibular disorders. 6205 Meniere's syndrome. 6207 Loss of auricle. 6208 Malignant...

38 CFR Appendix B to Part 4 - Numerical Index of Disabilities

Code of Federal Regulations, 2012 CFR

2012-07-01

... Diagnostic Code No. THE MUSCULOSKELETAL SYSTEM Acute, Subacute, or Chronic Diseases 5000 Osteomyelitis, acute... Intervertebral disc syndrome. Hip and Thigh 5250 Hip, ankylosis. 5251 Thigh, limitation of extension. 5252 Thigh.... 6204 Peripheral vestibular disorders. 6205 Meniere's syndrome. 6207 Loss of auricle. 6208 Malignant...

38 CFR Appendix B to Part 4 - Numerical Index of Disabilities

Code of Federal Regulations, 2014 CFR

2014-07-01

... Diagnostic Code No. THE MUSCULOSKELETAL SYSTEM Acute, Subacute, or Chronic Diseases 5000 Osteomyelitis, acute... Intervertebral disc syndrome. Hip and Thigh 5250 Hip, ankylosis. 5251 Thigh, limitation of extension. 5252 Thigh.... 6204 Peripheral vestibular disorders. 6205 Meniere's syndrome. 6207 Loss of auricle. 6208 Malignant...

38 CFR Appendix B to Part 4 - Numerical Index of Disabilities

Code of Federal Regulations, 2013 CFR

2013-07-01

... Diagnostic Code No. THE MUSCULOSKELETAL SYSTEM Acute, Subacute, or Chronic Diseases 5000 Osteomyelitis, acute... Intervertebral disc syndrome. Hip and Thigh 5250 Hip, ankylosis. 5251 Thigh, limitation of extension. 5252 Thigh.... 6204 Peripheral vestibular disorders. 6205 Meniere's syndrome. 6207 Loss of auricle. 6208 Malignant...

Ultrasound Imaging and Guided Injection for the Lateral and Posterior Hip.

PubMed

Chang, Ke-Vin; Wu, Wei-Ting; Lew, Henry L; Özçakar, Levent

2018-04-01

Ultrasound has emerged as one of the most utilized tools to diagnose musculoskeletal disorders and to assist in interventions. Traditionally, sonographic examination of the hip joint has been challenging because most of the major structures are deeply situated, thus requiring the use of curvilinear transducer for better penetrance. The posterior lateral hip is a frequent area for musculoskeletal pain and nerve entrapments. Common disorders include greater trochanteric pain syndrome, gluteus medius tendinopathy, piriformis syndrome, pudendal neuralgia, and proximal hamstring tendinopathy. The present review article aims to delineate sonoanatomy of the posterior lateral hip and to exemplify several common ultrasound guided procedures at the greater trochanteric, gluteal, and ischial tuberosity regions.

Physiotherapy and occupational therapy interventions for people with benign joint hypermobility syndrome: a systematic review of clinical trials.

PubMed

Smith, Toby O; Bacon, Holly; Jerman, Emma; Easton, Vicky; Armon, Kate; Poland, Fiona; Macgregor, Alex J

2014-01-01

This study assessed the literature to determine the efficacy and effectiveness of physiotherapy and occupational therapy interventions in the treatment of people with benign joint hypermobility syndrome (BJHS). Published literature databases including: AMED, CINAHL, MEDLINE, EMBASE, PubMed and the Cochrane Library, in addition to unpublished databases and trial registries were searched to October 2012. All clinical trials comparing the clinical outcomes of Occupational Therapy and Physiotherapy interventions compared to non-treatment or control intervention for people with BJHS were included. Of the 126 search results, 3 clinical studies satisfied the eligibility criteria. The data provides limited support for the use of wrist/hand splints for school children. While there is some support for exercise-based intervention, there is insufficient research to determine the optimal mode, frequency, dosage or type of exercise which should be delivered. The current evidence-base surrounding Occupational Therapy and Physiotherapy in the management of BJHS is limited in size and quality. There is insufficient research exploring the clinical outcomes of a number of interventions including sensory integration, positioning and posture management and education. Longer term, rigorous multi-centre randomised controlled trials are warranted to begin to assess the clinical and cost-effectiveness of interventions for children and adults with BJHS. Implications for Rehabilitation There is an evidence-base to support clinician's use of proprioceptive-based exercises in adults, and either tailored or generalised physiotherapy regimes for children with BJHS. Clinicians should be cautious when considering the prescription of hand/wrist splints for school age children with BJHS, based on the current research. Until further multi-centre trials are conducted assessing the clinical and cost-effectiveness of interventions for children and adult with BJHS, clinical decision-making should be based on theoretical rather than evidence-based grounds for this population.

Role of Occupational Stress and Burnout in Prevalence of Musculoskeletal Disorders Among Embassy Personnel of Foreign Countries in Iran

PubMed Central

Aghilinejad, Mashaallah; Sadeghi, Zargham; Abdullah, Amer; Sarebanha, Shima; Bahrami-Ahmadi, Amir

2014-01-01

Background: Occupation is one of the major parts of our daily lives that might cause a great amount of stress. Stress and job burnout are linked together. The association between musculoskeletal disorders (MSD) and burnout syndrome as a psychosocial factor was investigated previously. Objectives: The aim of this study was to identify the role of occupational stress and burnout in musculoskeletal complaint among diplomatic employees of different embassies in Iran. Materials and Methods: In a cross-sectional study, we assessed 200 employees of the foreign countries embassies in Iran. The participants were selected randomly from all the embassy personnel. Study questionnaires were delivered to the participants and finally 161 questionnaires were returned to the researchers (response rate: 80.5%). An assessment of burnout and MSD were made using the Maslach Burnout Inventory (MBI) and Nordic questionnaires. The work place stress was measured by the work place stress questionnaire. Results: Mean occupational stress was significantly higher among embassy personnel with MSD than among the personnel without this syndrome during the preceding week (17.18 ± 3.42 and 16.06 ± 2.19, respectively; P = 0.02) and the preceding year (17.17 ± 3.11 and 16.74 ± 3.03, respectively; P < 0.01) to the study. Only smoking and occupational stress were identified as independent predictors of MSD among embassy personnel. Conclusions: It seems that association between musculoskeletal complaints and burnout syndrome was more complex than being attributed to only occupation stress. Further studies are recommended to determine other related factors to this association. PMID:25031868

Role of occupational stress and burnout in prevalence of musculoskeletal disorders among embassy personnel of foreign countries in iran.

PubMed

Aghilinejad, Mashaallah; Sadeghi, Zargham; Abdullah, Amer; Sarebanha, Shima; Bahrami-Ahmadi, Amir

2014-05-01

Occupation is one of the major parts of our daily lives that might cause a great amount of stress. Stress and job burnout are linked together. The association between musculoskeletal disorders (MSD) and burnout syndrome as a psychosocial factor was investigated previously. The aim of this study was to identify the role of occupational stress and burnout in musculoskeletal complaint among diplomatic employees of different embassies in Iran. In a cross-sectional study, we assessed 200 employees of the foreign countries embassies in Iran. The participants were selected randomly from all the embassy personnel. Study questionnaires were delivered to the participants and finally 161 questionnaires were returned to the researchers (response rate: 80.5%). An assessment of burnout and MSD were made using the Maslach Burnout Inventory (MBI) and Nordic questionnaires. The work place stress was measured by the work place stress questionnaire. Mean occupational stress was significantly higher among embassy personnel with MSD than among the personnel without this syndrome during the preceding week (17.18 ± 3.42 and 16.06 ± 2.19, respectively; P = 0.02) and the preceding year (17.17 ± 3.11 and 16.74 ± 3.03, respectively; P < 0.01) to the study. Only smoking and occupational stress were identified as independent predictors of MSD among embassy personnel. It seems that association between musculoskeletal complaints and burnout syndrome was more complex than being attributed to only occupation stress. Further studies are recommended to determine other related factors to this association.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

PubMed

Copes, L E; Pober, B R; Terilli, C A

2016-07-01

Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Employer differences in upper-body musculoskeletal disorders and pain among immigrant Latino poultry processing workers.

PubMed

Rosenbaum, Daryl A; Mora, Dana C; Arcury, Thomas A; Chen, Haiying; Quandt, Sara A

2014-01-01

Between-employer differences in working conditions may lead to variable injury rates. The objective of this paper is to assess the difference in the prevalence of epicondylitis, rotator cuff syndrome, and low back pain among immigrant Latino poultry workers at plants of three different employers. Data were collected from a cross-sectional study among 286 poultry processing workers. Community-based sampling was used to recruit participants in western North Carolina. Rotator cuff syndrome (26.7%) and low back pain (27.9%) were more prevalent among employees of one specific employer. Multivariate analysis showed significant associations of low back pain and rotator cuff syndrome with age, task performed in the processing line, and employer. Employer is a major predictor of musculoskeletal disorders and pain. Line speed and work pace may account for these differences and provide an opportunity for regulation and intervention to protect the health of workers.

Risk factors, clinical features and outcome of treatment of work related musculoskeletal disorders in on-site clinics among IT companies in India.

PubMed

Sharan, Deepak; Ajeesh, P S; Rameshkumar, R; Jose, Jeena

2012-01-01

Workrelated musculoskeletal disorders among the IT professional is a common area of concern worldwide. This study was taken up to analyze the prevalence of risk factors, clinical features and outcome of treatment in onsite clinics in vaious information technology companies in India. Result revealed poor office ergonomics (54%), lack of keyboard tray (25%), lack of mouse tray (35%), lack of foot rest (60%), improper monitor height (80%) were the major self reported risk factors. Major identified MSD were Myofascial Pain Syndrome (49.20%), Thoracic outlet syndrome (25.02%), Fibromyalgia syndrome (8.5%). Majorly affected body regions were neck (64.9%), shoulder (42.1%), lower back (56.5%) and thigh (34.2%). The results were comparable with the literature. Feedback of the participants also revealed most of the participants were well satisfied with SHARAN's protocol.

Thermal capsulorraphy of bilateral glenohumeral joints in a pediatric patient with Ehlers-Danlos syndrome.

PubMed

Aldridge, Julian M; Perry, John J; Osbahr, Daryl C; Speer, Kevin P

2003-01-01

Ehlers-Danlos syndrome (EDS) is a heterogeneous collection of inherited connective tissue disorders characterized by hypermobility of the joints and hyperextensibility and fragility of the skin. For many patients, the hypermobile joints become problematic. To date, the mainstay of surgical treatment for EDS-related joint laxity has been open surgical capsulorraphy, which, although usually effective, confers significant morbidity to the patient. We present the case of a 9-year-old girl diagnosed with a variant of EDS and severely disabled from multidirectional instability of her shoulders and recurrent dislocations of her hips. After 1 year of nonoperative treatment (physical therapy, bracing, and activity restriction) failed, we performed a sequential arthroscopic thermal capsulorraphy of both shoulders. At a 2-year follow-up, the patient has no instability in the left shoulder and only occasional subluxations of the contralateral shoulder. We believe that thermal capsulorraphy is a viable addition to the shoulder surgeon's armamentarium in treating multidirectional instability in children with EDS.

An Overview of the Identification and Management of the Metabolic Syndrome in Chiropractic Practice

PubMed Central

Seaman, David R.; Palombo, Adam D.

2014-01-01

Objective This article presents an overview of metabolic syndrome (MetS), which is a collection of risk factors that can lead to diabetes, stroke, and heart disease. The purposes of this article are to describe the current literature on the etiology and pathophysiology of insulin resistance as it relates to MetS and to suggest strategies for dietary and supplemental management in chiropractic practice. Methods The literature was searched in PubMed, Google Scholar, and the Web site of the American Heart Association, from the earliest date possible to May 2014. Review articles were identified that outlined pathophysiology of MetS and type 2 diabetes mellitus (T2DM) and relationships among diet, supplements, and glycemic regulation, MetS, T2DM, and musculoskeletal pain. Results Metabolic syndrome has been linked to increased risk of developing T2DM and cardiovascular disease and increased risk of stroke and myocardial infarction. Insulin resistance is linked to musculoskeletal complaints both through chronic inflammation and the effects of advanced glycosylation end products. Although diabetes and cardiovascular disease are the most well-known diseases that can result from MetS, an emerging body of evidence demonstrates that common musculoskeletal pain syndromes can be caused by MetS. Conclusions This article provides an overview of lifestyle management of MetS that can be undertaken by doctors of chiropractic by means of dietary modification and nutritional support to promote blood sugar regulation. PMID:25225471

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

PubMed

Teraishi, Mika; Takaishi, Mikiro; Nakajima, Kimiko; Ikeda, Mitsunori; Higashi, Yujiro; Shimoda, Shinji; Asada, Yoshinobu; Hijikata, Atsushi; Ohara, Osamu; Hiraki, Yoko; Mizuno, Seiji; Fukada, Toshiyuki; Furukawa, Takahisa; Wakamatsu, Nobuaki; Sano, Shigetoshi

2017-04-19

Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility. MOWS patients showed a thinner dermal thickness and electron microscopy revealed miniaturized collagen fibrils. Notably, mice with a mesoderm-specific deletion of the Zeb2 gene (Zeb2-cKO) demonstrated redundant skin, dermal hypoplasia and miniaturized collagen fibrils similar to those of MOWS patients. Dermal fibroblasts derived from Zeb2-cKO mice showed a decreased expression of extracellular matrix (ECM) molecules, such as collagens, whereas molecules involved in degradation of the ECM, such as matrix metalloproteinases (MMPs), were up-regulated. Furthermore, bleomycin-induced skin fibrosis was attenuated in Zeb2-cKO mice. We conclude that MOWS patients exhibit an EDS-like skin phenotype through alterations of collagen fibrillogenesis due to ZEB2 mutations or deletions.

The frequency and characteristics of chronic widespread pain in general practice: a case-control study.

PubMed

Rohrbeck, Jens; Jordan, Kelvin; Croft, Peter

2007-02-01

Chronic widespread pain is common in the community but is not often diagnosed in primary care. One explanation may be that widespread pain is presented and treated in primary care as multiple episodes of regional pain. To determine whether patients who consult with multiple regional pain syndromes have characteristics consistent with chronic widespread pain. Case-control study. One general practice in North Staffordshire, UK. Participants were 148 cases who consulted regularly with different musculoskeletal pains over 5 years, and 524 controls who had not consulted for musculoskeletal pain during the same period. A postal questionnaire survey and medical record review were undertaken. Cases with musculoskeletal pain reported more health problems and higher levels of fatigue than controls, and significantly worse general health and greater sleep disturbance (odds ratios 3.3. and 3.1, respectively). They generally reported more severe symptoms and consulted more frequently for a range of problems, but this was not explained by a general propensity to consult. Patients who consult in primary care with multiple regional pain syndromes have similar characteristics to those associated with chronic widespread pain and fibromyalgia. Recognising the need for general approaches to pain management, rather than treating each syndrome as a regional problem of pain, may improve the outcome in such patients.

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

PubMed

Ackerman, Jaeger P; Smestad, John A; Tester, David J; Qureshi, Muhammad Y; Crabb, Beau A; Mendelsohn, Nancy J; Ackerman, Michael J

2016-09-01

To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defect, and patent ductus arteriosus that were closed surgically. Subsequently, the phenotype of polyvalvular syndrome with involvement of both semilunar and both atrioventricular valves emerged. His family history was negative for congenital heart disease. Because of hypotonia, myopia, soft pale skin, joint hypermobility, and mild facial dysmorphism, either Noonan syndrome- or William syndrome-spectrum disorders were suspected clinically. However, chromosomal analysis was normal and commercially available Noonan syndrome and William syndrome genetic tests were negative. Whole exome sequencing of the patient and both parents was performed. Variants were analyzed by sporadic and autosomal recessive inheritance models. A sporadic mutation, annotated as c.1491 T > A, in TAB2, resulting in a nonsense mutation, p.Y497X, in the TAB2-encoded TGF-beta activated kinase 1 (TAK1) was identified as the most likely disease-susceptibility gene. This mutation results in elimination of the terminal 197 amino acids, including the C-terminal binding motif critical for interactions with TRAF6 and TAK1. The combination of WES, genomic triangulation, and systems biology has uncovered perturbations in TGF-beta activated kinase 1 signaling as a novel pathogenic substrate for polyvalvular syndrome. © 2016 Wiley Periodicals, Inc.

Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers-Danlos syndrome: a case report.

PubMed

Lo, Tony Chung Tung; Yeung, Stephen Tung; Lee, Sujin; Skavinski, Kira; Liao, Solomon

2016-01-01

Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7-8 out of 10 to 0-3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of physiological balance between pain inhibition and facilitation. The present report shows that this treatment option can be used in patients with refractory central pain syndrome in the setting of spinal cord myelopathy secondary to Ehlers-Danlos syndrome. In addition, as seen in this case, this protocol can potentially decrease the chronic use of pain medication, such as opioids.

Psychological factors at work and musculoskeletal disorders: a one year prospective study.

PubMed

Bugajska, Joanna; Zołnierczyk-Zreda, Dorota; Jędryka-Góral, Anna; Gasik, Robert; Hildt-Ciupińska, Katarzyna; Malińska, Marzena; Bedyńska, Sylwia

2013-12-01

The etiology of musculoskeletal disorders is complex, with physical and psychosocial working conditions playing an important role. This study aimed to determine the relationship between psychosocial work conditions, such as psychological job demands, decision latitude, social support and job insecurity and musculoskeletal complains (MSCs) and (repetitive strain injuries (RSIs) in a 1-year prospective study. The job content questionnaire, the Nordic musculoskeletal questionnaire and provocation tests were used to study 725 employees aged 20-70 years. Pain in the lower back (58 % of subjects), neck (57 %), wrists/hands (47 %) and upper back (44 %) was most frequent. The carpal tunnel syndrome (CTS) (33.6 %), rotator cuff tendinitis (15.4 %), Guyon's canal syndrome (13.4 %), lateral epicondylitis (7.6 %), medial epicondylitis (5.3 %), tendinitis of forearm-wrist extensors (7.8 %) and tendinitis of forearm-wrist flexors (7.3 %) were the most frequent RSIs. Logistic analysis showed that increased psychological job demands statistically significantly increased the probability of lateral and medial epicondylitis, and increased control (decision latitude) statistically significantly decreased the risk of CTS. There was no relationship between job insecurity, social support and the studied RSIs. Psychosocial factors at work predict prevalence of MSCs and RSIs, irrespectively of demographic factors, e.g., age or gender, and organizational and physical factors.

Musculoskeletal injuries in British Army recruits: a prospective study of diagnosis-specific incidence and rehabilitation times.

PubMed

Sharma, Jagannath; Greeves, Julie P; Byers, Mark; Bennett, Alexander N; Spears, Iain R

2015-05-04

Musculoskeletal injuries during initial military training are a significant medical problem facing military organisations globally. In order to develop an injury management programme, this study aims to quantify the incidence and rehabilitation times for injury specific diagnoses. This was a prospective follow-up study of musculoskeletal injuries in 6608 British Army recruits during a 26-week initial military training programme over a 2-year period. Incidence and rehabilitation times for injury specific diagnoses were recorded and analysed. During the study period the overall incidence of musculoskeletal injuries was 48.6%, and the most common diagnosis was iliotibial band syndrome (6.2%). A significant proportion of the injuries occurred during the first 11 weeks of the programme. The longest rehabilitation times were for stress fractures of the femur, calcaneus and tibia (116 ± 17 days, 92 ± 12 days, and 85 ± 11 days, respectively). The combination of high incidence and lengthy rehabilitation indicates that medial tibial stress syndrome had the greatest impact on training, accounting for almost 20% of all days spent in rehabilitation. When setting prevention priorities consideration should be given to both the incidence of specific injury diagnoses and their associated time to recovery.

Standardized radiologic protocol for the study of common coccygodynia and characteristics of the lesions observed in the sitting position. Clinical elements differentiating luxation, hypermobility, and normal mobility.

PubMed

Maigne, J Y; Tamalet, B

1996-11-15

Ninety-one patients with common coccygodynia and 47 control subjects prospectively underwent dynamic radiographic imagery. To standardize the radiologic protocol to better define normal and abnormal mobility of the coccyx, and to study clinical parameters useful in classifying and differentiating the lesions. In a previous study, comparison of films taken in the sitting and standing positions allowed to individualize two distinct coccygeal lesions: luxation and hypermobility. Measurement technique was precise and reproducible, but the control group was not pain-free. No specific clinical features were described. Standing films were made first. Control subjects were healthy volunteers. The following items were recorded: presence of an initial traumatic event, elapsed time before investigation, body mass index, presence of an acute pain when passing from sitting to standing, effect of intradiscal steroid injection, and angle of the coccyx with respect to the seat. Hypermobility was defined as a flexion of more than 25 degrees, luxation by displacement of more than 25% of the coccyx. The base angle is a good predictor of the direction in which the coccyx moves when sitting. In the "luxation" group, a history of initial trauma, a shorter clinical course, pain when standing up, increased body mass index, and satisfactory results with intradiscal injection were found more frequently than in the "normal" group. The "hypermobility" group had characteristics between these two groups. Common coccygodynia is associated in 48.4% of patients with a luxation or hypermobility of the coccyx. A distinct clinical presentation was found in individuals with luxation of the coccyx.

[Differential diagnosis of polyarthritis pain syndrome of the locomotor apparatus].

PubMed

Menninger, H

1998-02-28

Widespread pain syndromes of the musculoskeletal system present to general practitioners, internists, neurologists and orthopedic surgeons every day. The syndromes may result both from organic diseases (inflammatory joint diseases, rheumatic manifestations of organ diseases) as well as dysfunctional syndromes, the latter including mainly biomechanically induced syndromes and fibromyalgia. The approach is predominantly clinically oriented and requires laboratory means or technical procedures only in a limited extend. The duration of history, the recognition of synovitis and of myofascial trigger points or of integumental tender points allow in most patients to achieve appropriate diagnostic criteria.

Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis.

PubMed

Chase, Charles J; Holak, Elena J; Pagel, Paul S

2013-08-01

Noonan syndrome is a relatively common genetically transmitted disorder characterized by facial, cardiac, and musculoskeletal abnormalities. The management of a 27 year old woman with Noonan syndrome at 23 weeks' gestation, presenting with premature labor, who required an emergent Cesarean section for placental abruption, is discussed. In addition to Noonan syndrome, this patient had bacterial endocarditis involving the mitral and aortic valves. The anesthetic implications of Noonan syndrome and endocarditis during pregnancy are presented. © 2013 Elsevier Inc. All rights reserved.

Focal hypermobility observed in cervical arthroplasty with Mobi-C.

PubMed

Kerferd, Jack William; Abi-Hanna, David; Phan, Kevin; Rao, Prashanth; Mobbs, Ralph J

2017-12-01

In recent decades cervical arthroplasty, or cervical disc replacement, has been steadily increasing in popularity as a procedure for the treatment of degenerative pathologies of the cervical spine. This is based on an evolving body of literature that documents superior outcomes in cervical disc replacement over fusion, for both single and double level pathologies, in well selected patients. One of the more recent and popular implants currently on the market is the Mobi-C cervical artificial disc (LDR Medical; Troyes, France). In this paper we report on two cases where focal hypermobility was observed following total disc replacement using the Mobi-C cervical artificial disc. This is followed by a discussion as to potential contributing factors to this hypermobility in relation to both implant design, and operative technique, suggesting potential changes that might prevent this in future patients.

Gorlin-Goltz syndrome: A rare case report.

PubMed

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

The Educational and Psychological Interventions for Children and Adolescents with Marfan Syndrome.

ERIC Educational Resources Information Center

Stebbins, Molly S.; McIntosh, David E.

Marfan's syndrome is an autosomal dominant chromosomal disorder of connective tissue which may cause major abnormalities in the musculoskeletal, ocular (pertaining to the eye), and cardiovascular systems of the body. A description of this disorder is presented in this paper. It affects approximately .03 to .05% of the population; approximately…

Change in Musculoskeletal Pain in Patients With Work-Related Musculoskeletal Disorder After Tailored Rehabilitation Education: A One-Year Follow-Up Survey.

PubMed

Lee, Dong Hun; Kang, Boram; Choi, Seungyoung; Kim, Taikon; Jang, Seong Ho; Lee, Kyu Hoon; Kim, Mi Jung; Park, Si-Bog; Han, Seung Hoon

2015-10-01

To apply tailored rehabilitation education to video display terminal (VDT) workers with musculoskeletal pain and to assess changes in musculoskeletal pain after rehabilitation education. A total of 8,828 VDT workers were screened for musculoskeletal disorders using a self-report questionnaire. Six hundred twenty-six VDT workers selected based on their questionnaires were enrolled in musculoskeletal rehabilitation education, which consisted of education on VDT syndrome and confirmed diseases, exercise therapy including self-stretching and strengthening, and posture correction. One year later, a follow-up screening survey was performed on 316 VDT workers, and the results were compared with the previous data. Compared with the initial survey, pain intensity was significantly decreased in the neck area; pain duration and frequency were significantly decreased in the low back area; and pain duration, intensity, and frequency were significantly decreased in the shoulder and wrist after tailored rehabilitation education. In addition, pain duration, intensity, and frequency showed a greater significant decrease after tailored rehabilitation education in the mild pain group than in the severe pain group. This study found that work-related musculoskeletal pain was reduced after tailored rehabilitation education, especially in the shoulder, wrist, and low back.

Tarsometatarsal arthrodesis for management of unstable first ray and failed bunion surgery.

PubMed

Espinosa, Norman; Wirth, Stephan H

2011-03-01

This article focuses on arthrodesis of the first tarsometatarsal joint as the primary intervention to treat hypermobility of the first ray or as a salvage procedure to treat prior failed bunion surgery and provides a concise review including historical perspective, definitions, pathomechanics, and treatment of specific forefoot disorders (ie, hypermobility of the first ray and failed bunion surgery). Copyright © 2011 Elsevier Inc. All rights reserved.

Gorlin-Goltz syndrome: A rare case report

PubMed Central

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Anaesthetic management of a parturient with Laron syndrome.

PubMed

Bhatia, K; Cockerham, R

2011-10-01

We report a case of a parturient with Laron syndrome, a rare form of dwarfism which results from an inability to generate insulin-like growth factor 1. In addition to dwarfism these patients may have craniofacial abnormalities, atlantoaxial instability, spinal stenosis and metabolic, musculoskeletal and genitourinary abnormalities. The patient underwent an urgent caesarean section using combined spinal-epidural anaesthesia. Laron syndrome is reviewed and its anaesthetic implications discussed. Copyright © 2011 Elsevier Ltd. All rights reserved.

Musculoskeletal and Medical Morbidity Associated with Rigorous Physical Training

DTIC Science & Technology

1992-08-01

0.2 volved the lower limb (Table 3). Iliotibial band syn- Chest x-ray reading V7250 I 0.2Skin test for tuberculosis V7410 I 0.2 drome, patellofemoral ...strikes per mile each at 1.5 to 3 times bodyweight, Patellofemoral syndrome 71770 16 3.3 Contusion, knee 92411 5 1.0 putting tremendous cumulative...14.7 cases/100 trainee-months) of the medical conditions, while overuse injuries (primarily iliotibial band syndrome, patellofemoral syndrome, and

Rheumatic diseases presenting as sports-related injuries.

PubMed

Jennings, Fabio; Lambert, Elaine; Fredericson, Michael

2008-01-01

Most individuals seeking consultation at sports medicine clinics are young, healthy athletes with injuries related to a specific activity. However, these athletes may have other systemic pathologies, such as rheumatic diseases, that may initially mimic sports-related injuries. As rheumatic diseases often affect the musculoskeletal system, they may masquerade as traumatic or mechanical conditions. A systematic review of the literature found numerous case reports of athletes who presented with apparent mechanical low back pain, sciatica pain, hip pain, meniscal tear, ankle sprain, rotator cuff syndrome and stress fractures and who, on further investigation, were found to have manifestations of rheumatic diseases. Common systemic, inflammatory causes of these musculoskeletal complaints include ankylosing spondylitis (AS), gout, chondrocalcinosis, psoriatic enthesopathy and early rheumatoid arthritis (RA). Low back pain is often mechanical among athletes, but cases have been described where spondyloarthritis, especially AS, has been diagnosed. Neck pain, another common mechanical symptom in athletes, can be an atypical presentation of AS or early RA. Hip or groin pain is frequently related to injuries in the hip joint and its surrounding structures. However, differential diagnosis should be made with AS, RA, gout, psudeogout, and less often with haemochromatosis and synovial chondochromatosis. In athletes presenting with peripheral arthropathy, it is mandatory to investigate autoimmune arthritis (AS, RA, juvenile idiopathic arthritis and systemic lupus erythematosus), crystal-induced arthritis, Lyme disease and pigmented villonodular synovitis. Musculoskeletal soft tissue disorders (bursitis, tendinopathies, enthesitis and carpal tunnel syndrome) are a frequent cause of pain and disability in both competitive and recreational athletes, and are related to acute injuries or overuse. However, these disorders may occasionally be a manifestation of RA, spondyloarthritis, gout and pseudogout. Effective management of athletes presenting with musculoskeletal complaints requires a structured history, physical examination, and definitive diagnosis to distinguish soft tissue problems from joint problems and an inflammatory syndrome from a non-inflammatory syndrome. Clues to a systemic inflammatory aetiology may include constitutional symptoms, morning stiffness, elevated acute-phase reactants and progressive symptoms despite modification of physical activity. The mechanism of injury or lack thereof is also a clue to any underlying disease. In these circumstances, more complete workup is reasonable, including radiographs, magnetic resonance imaging and laboratory testing for autoantibodies.

Presence of enthesopathy in patients with primary Sjogren's syndrome: ultrasonographic study of a local cohort.

PubMed

Sag, Sinem; Sag, Mustafa Serdar; Tekeoglu, Ibrahim; Kamanlı, Ayhan; Nas, Kemal

2018-01-01

Musculoskeletal findings in Sjögren's syndrome are arthralgia, arthritis, myalgia, myositis, fibromyalgia, and chronic fatigue. Enthesis zones are important in the formation of pain in the musculoskeletal system. Musculoskeletal ultrasound (US) may show subclinical enthesitis in the synovial joints and in the axial skeleton before joint swelling in inflammatory diseases characterized by arthritis. In this study, we aimed to determine the presence of enthesopathy using the Madrid sonographic enthesitis index (MASEI) in patients with primary Sjögren's syndrome (PSS). Consecutive patients with PSS and age-matched healthy controls were included in this study. All the patients met the 2002 American College of Rheumatology/European League against Rheumatism classification criteria for PSS. The demographic characteristics of the patients were recorded. Six enthesis sites were evaluated using gray-scale and Doppler US with a linear transducer, and they were scored using the MASEI. They were assessed by the EULAR Sjögren's syndrome disease activity index (ESSDAI). We evaluated 40 patients with PSS (average age 48.67 ± 11.23 years) and 30 healthy controls (average age 45.40 ± 8.24 years). Patients with PSS had significantly higher MASEI scores than the healthy controls. Plantar fascia, Achilles tendon, and distal patellar tendons were significantly thicker in the PSS group than in the healthy controls. The MASEI total score had a positive correlation with age. There was no correlation between MASEI total score and BMI and ESSDAI. In this study, it was shown that the MASEI scores assessed by US were significantly higher in patients with PSS than in healthy controls. Plantar fascia, Achilles tendon, and distal patellar tendon were significantly thicker in the PSS group than in the healthy controls. This result suggests that PSS may be one of the causes of musculoskeletal pain that can be seen in patients with PSS. Our study was the first study to use an enthesis index ultrasonographically in patients with PSS. In addition, it is the first study to investigate the relationship between the presence of enthesopathy and disease activity by means of US.

Review of Van earthquakes form an orthopaedic perspective: a multicentre retrospective study.

PubMed

Guner, Savas; Guner, Sukriye Ilkay; Isik, Yasemin; Gormeli, Gokay; Kalender, Ali Murat; Turktas, Ugur; Gokalp, Mehmet Ata; Gozen, Abdurrahim; Isik, Mustafa; Ozkan, Sezai; Turkozu, Tulin; Karadas, Sevdegul; Ceylan, Mehmet Fethi; Ediz, Levent; Bulut, Mehmet; Gunes, Yusuf; Gormeli, Ayse; Erturk, Cemil; Eseoglu, Metehan; Dursun, Recep

2013-01-01

This is a descriptive analysis, of victims of Turkey's October 23, 2011 and November 21, 2011 Van earthquakes. The goal of this study is investigated the injury profile of the both earthquakes in relation to musculoskeletal trauma. We retrospectively reviewed medical records of 3,965 patients admitted to in seven hospitals. A large share of these injuries were soft tissue injuries, followed by fractures, crush injuries, crush syndromes, nerve injuries, vascular injuries, compartment syndrome and joint dislocations. A total of 73 crush injuries were diagnosed and 31 of them were developed compartment syndrome. The patients with closed undisplaced fractures were treated with casting braces. For closed unstable fractures with good skin and soft-tissue conditions, open reduction and internal fixation was performed. All patients with open fracture had an external fixator applied after adequate debridement. Thirty one of 40 patients with compartment syndrome were treated by fasciotomy. For twelve of them, amputation was necessary. The most common procedure performed was debridement, followed by open reduction and internal fixation and closed reduction-casting, respectively. The results of this study may provide the basis for future development of strategy to optimise attempts at rescue and plan treatment of survivors with musculoskeletal injuries after earthquakes.

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

PubMed

Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

2016-09-01

Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. © 2016 WILEY PERIODICALS, INC.

Carpal tunnel syndrome

MedlinePlus

... Silver JK, Rizzo TD Jr, eds. Essentials of Physical Medicine and Rehabilitation: Musculoskeletal Disorders, Pain, and Rehabilitation . 3rd ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 36. Review Date 4/18/2017 Updated by: C. Benjamin ...

A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility

PubMed Central

Sharp, Julia L.; Edelson, Stephen M.; Kelly, Desmond P.; Casanova, Manuel F.

2018-01-01

Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001–0.020), as did endocrine-mediated symptoms (p < 0.001–0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation. PMID:29562607

Pediatric fibromyalgia.

PubMed

Buskila, Dan

2009-05-01

Fibromyalgia is an idiopathic chronic pain syndrome defined by widespread nonarticular musculoskeletal pain and generalized tender points. The syndrome is associated with a constellation of symptoms, including fatigue, nonrefreshing sleep, irritable bowel, and more. Central nervous system sensitization is a major pathophysiologic aspect of fibromyalgia; in addition, various external stimuli such as trauma and stress may contribute to development of the syndrome. Fibromyalgia is most common in midlife, but may be seen at any age. This article reviews the epidemiology, clinical characteristics, etiology, management, and outcome of pediatric fibromyalgia.

Computer work and musculoskeletal disorders of the neck and upper extremity: A systematic review

PubMed Central

2010-01-01

Background This review examines the evidence for an association between computer work and neck and upper extremity disorders (except carpal tunnel syndrome). Methods A systematic critical review of studies of computer work and musculoskeletal disorders verified by a physical examination was performed. Results A total of 22 studies (26 articles) fulfilled the inclusion criteria. Results show limited evidence for a causal relationship between computer work per se, computer mouse and keyboard time related to a diagnosis of wrist tendonitis, and for an association between computer mouse time and forearm disorders. Limited evidence was also found for a causal relationship between computer work per se and computer mouse time related to tension neck syndrome, but the evidence for keyboard time was insufficient. Insufficient evidence was found for an association between other musculoskeletal diagnoses of the neck and upper extremities, including shoulder tendonitis and epicondylitis, and any aspect of computer work. Conclusions There is limited epidemiological evidence for an association between aspects of computer work and some of the clinical diagnoses studied. None of the evidence was considered as moderate or strong and there is a need for more and better documentation. PMID:20429925

Joint hypermobility leading to osteoarthrosis and chondrocalcinosis.

PubMed

Bird, H A; Tribe, C R; Bacon, P A

1978-06-01

We have reviewed 21 adults referred to rheumatology clinic and considered to have generalised joint hypermobility by the criteria of Carter and Wilkinson (1964), modified by Beighton et al. (1973). They fell into two categories. 5 patients had a raised plasma viscosity (PV) and in each case a definite pathology was found to account for this, superimposed on hypermobile joints. The remaining 16 had a normal PV and this group was thought to represent the late natural history of hypermobility. 5 of these (aged 32 to 54 years) had no evidence of osteoarthrosis but the remaining 11 (aged 34 to 80 years) had widespread radiological osteoarthrosis. Synovial histology was obtained at arthroscopy in 6 of these patients and 4 (aged 60 to 75) had chondrocalcinosis. This previously undescribed finding may be the end result of hypermobile joints. Hypermobile patients with joint deformity (lax connective tissue), widespread synovial thickening (traumatic), and hot joint effusions (chondrocalcinosis) may mimic rheumatoid arthritis. They must be distinguished from patients who develop rheumatoid arthritis in hypermobile joints.

Joint hypermobility leading to osteoarthrosis and chondrocalcinosis.

PubMed Central

Bird, H A; Tribe, C R; Bacon, P A

1978-01-01

We have reviewed 21 adults referred to rheumatology clinic and considered to have generalised joint hypermobility by the criteria of Carter and Wilkinson (1964), modified by Beighton et al. (1973). They fell into two categories. 5 patients had a raised plasma viscosity (PV) and in each case a definite pathology was found to account for this, superimposed on hypermobile joints. The remaining 16 had a normal PV and this group was thought to represent the late natural history of hypermobility. 5 of these (aged 32 to 54 years) had no evidence of osteoarthrosis but the remaining 11 (aged 34 to 80 years) had widespread radiological osteoarthrosis. Synovial histology was obtained at arthroscopy in 6 of these patients and 4 (aged 60 to 75) had chondrocalcinosis. This previously undescribed finding may be the end result of hypermobile joints. Hypermobile patients with joint deformity (lax connective tissue), widespread synovial thickening (traumatic), and hot joint effusions (chondrocalcinosis) may mimic rheumatoid arthritis. They must be distinguished from patients who develop rheumatoid arthritis in hypermobile joints. Images PMID:686857

Prevalence of upper extremity symptoms and disorders among dental and dental hygiene students.

PubMed

Werner, Robert A; Franzblau, Alfred; Gell, Nancy; Hamann, Curt; Rodgers, Pamela A; Caruso, Timothy J; Perry, Frank; Lamb, Courtney; Beaver, Shirley; Hinkamp, David; Eklund, Kathy; Klausner, Christine P

2005-02-01

Upper extremity musculoskeletal disorders are common among dental professionals. The natural history of these disorders is not well-understood. These disorders are more common in older workers, but the prevalence among younger workers has not been well-studied. The objective of this study was to determine if dental/dental hygiene students had a similar prevalence of upper extremity musculoskeletal disorders compared to age-matched clerical workers. We hypothesize students will have a lower prevalence of upper extremity musculoskeletal disorders compared to clerical workers. This was a cross-sectional design. Dental and dental hygiene students from three schools were compared to clerical workers from three locations (an insurance company and two data processing plants). There were 343 dental and dental hygiene students and 164 age-matched clerical workers. Regional discomfort was the primary outcome. The secondary health outcomes were diagnoses of carpal tunnel syndrome and upper extremity tendinitis. Clerical workers had a higher prevalence of hand symptoms (62 percent vs. 20 percent), elbow symptoms (34 percent vs. 6 percent) and shoulder/neck symptoms (48 percent vs. 16 percent) and a higher prevalence of carpal tunnel syndrome (2.5 percent vs. .6 percent) and upper extremity tendinitis (12 percent vs. 5 percent). The clerical workers were more obese, smoked more, exercised less frequently, and had lower educational levels and less control of their work environment. Dental and dental hygiene students have a very low prevalence of upper extremity musculoskeletal disorders. A longitudinal study is necessary to evaluate ergonomic and personal risk factors.

Current thinking about acute compartment syndrome of the lower extremity

PubMed Central

Shadgan, Babak; Menon, Matthew; Sanders, David; Berry, Gregg; Martin, Claude; Duffy, Paul; Stephen, David; O’Brien, Peter J.

2010-01-01

Acute compartment syndrome of the lower extremity is a clinical condition that, although uncommon, is seen fairly regularly in modern orthopedic practice. The pathophysiology of the disorder has been extensively described and is well known to physicians who care for patients with musculoskeletal injuries. The diagnosis, however, is often difficult to make. In this article, we review the clinical risk factors of acute compartment syndrome of the lower extremity, identify the current concepts of diagnosis and discuss appropriate treatment plans. We also describe the Canadian medicolegal environment in regard to compartment syndrome of the lower extremity. PMID:20858378

Dynamic MRI evaluation of urethral hypermobility post-radical prostatectomy.

PubMed

Suskind, Anne M; DeLancey, John O L; Hussain, Hero K; Montgomery, Jeffrey S; Latini, Jerilyn M; Cameron, Anne P

2014-03-01

One postulated cause of post-prostatectomy incontinence is urethral and bladder neck hypermobility. The objective of this study was to determine the magnitude of anatomical differences of urethral and bladder neck position at rest and with valsalva in continent and incontinent men post-prostatectomy based on dynamic MRI. All subjects underwent a dynamic MRI protocol with valsalva and non-valsalva images and a standard urodynamic evaluation. MRI measurements were taken at rest and with valsalva, including (1) bladder neck to sacrococcygeal inferior pubic point line (SCIPP), (2) urethra to pubis, and (3) bulbar urethra to SCIPP. Data were analyzed in SAS using two-tailed t tests. A total of 21 subjects (13 incontinent and 8 continent) had complete data and were included in the final analysis. The two groups had similar demographic characteristics. On MRI, there were no statistically significant differences in anatomic position of the bladder neck or urethra either at rest or with valsalva. The amount of hypermobility ranged from 0.8 to 2 mm in all measures. There were also no differences in the amount of hypermobility (position at rest minus position at valsalva) between groups. We found no statistically significant differences in bladder neck and urethral position or mobility on dynamic MRI evaluation between continent and incontinent men status post-radical prostatectomy. A more complex mechanism for post-prostatectomy incontinence needs to be modeled in order to better understand the continence mechanism in this select group of men. © 2013 Wiley Periodicals, Inc.

Psychosocial Work Environment and Musculoskeletal Symptoms among 21-Year-Old Workers: A Population-Based Investigation (2011-2013)

PubMed Central

Lourenço, Sara; Carnide, Filomena; Benavides, Fernando G.; Lucas, Raquel

2015-01-01

Background The current labour market is becoming more flexible and informal, with job insecurity selectively affecting young workers. However, the role of these increasing adverse psychosocial working conditions on health outcomes remains little known among newly employed workers. Objective To estimate the associations between psychosocial work environment and musculoskeletal outcomes (widespread pain syndrome features and regional pain) in a population-based sample of young workers. Methods Cross-sectional data from workers aged 21 years were collected during the third wave of the EPITeen cohort study (2011-2013; n=650). The Job Content Questionnaire was used to characterize the psychosocial work environment according to the demand-control-support model. Data on pain and non-pain dimensions of the widespread pain syndrome (Fibromyalgia Survey Questionnaire) as well as on regional musculoskeletal pain (Nordic Musculoskeletal Questionnaire) were also collected. Crude and adjusted odds ratios (OR) with 95% confidence intervals (95% CI) were computed using logistic regression and all estimates were adjusted for sex, education and occupational biomechanical demands. Results Job insecurity was significantly associated to the non-pain dimension of the widespread pain syndrome (adjusted OR [95% CI]=1.51 [1.08, 2.12]). Young workers with strain jobs were significantly more likely to report high levels of non-pain symptoms when compared with those with no-strain jobs and this effect was even stronger when social support was added to the main exposure: workers with strain jobs and low social support had twice the odds of reporting high levels of non-pain features than those with high strain but high social support jobs (adjusted OR=1.86, 95% CI: 1.04, 3.31). These significant associations were not observed when widespread pain or multisite regional pain were the outcomes. Conclusion In the beginning of professional life, high strain jobs were associated to non-pain complaints, especially when the work environment provided also low social support. PMID:26076365

Psychosocial Work Environment and Musculoskeletal Symptoms among 21-Year-Old Workers: A Population-Based Investigation (2011-2013).

PubMed

Lourenço, Sara; Carnide, Filomena; Benavides, Fernando G; Lucas, Raquel

2015-01-01

The current labour market is becoming more flexible and informal, with job insecurity selectively affecting young workers. However, the role of these increasing adverse psychosocial working conditions on health outcomes remains little known among newly employed workers. To estimate the associations between psychosocial work environment and musculoskeletal outcomes (widespread pain syndrome features and regional pain) in a population-based sample of young workers. Cross-sectional data from workers aged 21 years were collected during the third wave of the EPITeen cohort study (2011-2013; n=650). The Job Content Questionnaire was used to characterize the psychosocial work environment according to the demand-control-support model. Data on pain and non-pain dimensions of the widespread pain syndrome (Fibromyalgia Survey Questionnaire) as well as on regional musculoskeletal pain (Nordic Musculoskeletal Questionnaire) were also collected. Crude and adjusted odds ratios (OR) with 95% confidence intervals (95% CI) were computed using logistic regression and all estimates were adjusted for sex, education and occupational biomechanical demands. Job insecurity was significantly associated to the non-pain dimension of the widespread pain syndrome (adjusted OR [95% CI]=1.51 [1.08, 2.12]). Young workers with strain jobs were significantly more likely to report high levels of non-pain symptoms when compared with those with no-strain jobs and this effect was even stronger when social support was added to the main exposure: workers with strain jobs and low social support had twice the odds of reporting high levels of non-pain features than those with high strain but high social support jobs (adjusted OR=1.86, 95% CI: 1.04, 3.31). These significant associations were not observed when widespread pain or multisite regional pain were the outcomes. In the beginning of professional life, high strain jobs were associated to non-pain complaints, especially when the work environment provided also low social support.

What Is Marfan Syndrome?

MedlinePlus

... proper medical care and correct information. Find strong social support. Eat a balanced diet and maintain a healthy ... Arthritis and Musculoskeletal and Skin Diseases is to support research into the causes, treatment, and prevention of ... Statement Accessibility Disclaimer ...

Connective Tissue Disorders

MedlinePlus

... syndrome, and osteogenesis imperfecta Autoimmune disorders, such as lupus and scleroderma Cancers, like some types of soft tissue sarcoma Each disorder has its own symptoms and needs different treatment. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Update on the efficacy of extracorporeal shockwave treatment for myofascial pain syndrome and fibromyalgia.

PubMed

Ramon, Silvia; Gleitz, Markus; Hernandez, Leonor; Romero, Luis David

2015-12-01

Chronic muscle pain syndrome is one of the main causes of musculoskeletal pathologies requiring treatment. Many terms have been used in the past to describe painful muscular syndromes in the absence of evident local nociception such as myogelosis, muscle hardening, myalgia, muscular rheumatism, fibrositis or myofascial trigger point with or without referred pain. If it persists over six months or more, it often becomes therapy resistant and frequently results in chronic generalized pain, characterized by a high degree of subjective suffering. Myofascial pain syndrome (MPS) is defined as a series of sensory, motor, and autonomic symptoms caused by a stiffness of the muscle, caused by hyperirritable nodules in musculoskeletal fibers, known as myofascial trigger points (MTP), and fascial constrictions. Fibromyalgia (FM) is a chronic condition that involves both central and peripheral sensitization and for which no curative treatment is available at the present time. Fibromyalgia shares some of the features of MPS, such as hyperirritability. Many treatments options have been described for muscle pain syndrome, with differing evidence of efficacy. Extracorporeal Shockwave Treatment (ESWT) offers a new and promising treatment for muscular disorders. We will review the existing bibliography on the evidence of the efficacy of ESWT for MPS, paying particular attention to MTP (Myofascial Trigger Point) and Fibromyalgia (FM). Copyright © 2015 IJS Publishing Group Limited. Published by Elsevier Ltd. All rights reserved.

Motor performance in children with Noonan syndrome.

PubMed

Croonen, Ellen A; Essink, Marlou; van der Burgt, Ineke; Draaisma, Jos M; Noordam, Cees; Nijhuis-van der Sanden, Maria W G

2017-09-01

Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen using valid norm-referenced tests. The study assessed motor performance in 19 children with Noonan syndrome (12 females, mean age 9 years 4 months, range 6 years 1 month to 11 years and 11 months, SDS 1 year and 11 months). More than 60% of the parents of the children reported pain, decreased muscle strength, reduced endurance, and/or clumsiness in daily functioning. The mean standard scores on the Visual Motor Integration (VMI) test and Movement Assessment Battery for Children 2, Dutch version (MABC-2-NL) items differed significantly from the reference scores. Grip strength, muscle force, and 6 min Walking Test (6 MWT) walking distance were significantly lower, and the presence of generalized hypermobility was significantly higher. All MABC-2-NL scores (except manual dexterity) correlated significantly with almost all muscle strength tests, VMI total score, and VMI visual perception score. The 6 MWT was only significantly correlated to grip strength. This is the first study that confirms that motor performance, strength, and endurance are significantly impaired in children with Noonan syndrome. Decreased functional motor performance seems to be related to decreased visual perception and reduced muscle strength. Research on causal relationships and the effectiveness of interventions is needed. Physical and/or occupational therapy guidance should be considered to enhance participation in daily life. © 2017 Wiley Periodicals, Inc.

Prevalence of musculoskeletal disorders among immigrant Latino farmworkers and non-farmworkers in North Carolina.

PubMed

Mora, Dana C; Miles, Christopher M; Chen, Haiying; Quandt, Sara A; Summers, Phillip; Arcury, Thomas A

2016-05-03

This paper evaluates the variability in the prevalence of epicondylitis, rotator cuff syndrome, low back pain, and lower extremity pathology among immigrant Latino farmworkers and non-farmworkers. Data were collected from a study among 272 farmworkers and non-farmworkers. Participants were recruited in eastern and central North Carolina. A physical examination was conducted by trained physicians. Prevalence of musculoskeletal disorders (MSDs) among Latino manual workers is high compared with other workers in similar occupations. Non-farmworkers (49%) had a higher prevalence of MSDs than farmworkers (35%). Epicondylitis (20.2%) and rotator cuff syndrome (19.1%) were most prevalent. Age was found to be significant among those who had epicondylitis (adjusted odds ratio [AOR] = 1.04) and lower extremity pathology (AOR = 1.07). Latino immigrant manual workers have high prevalence of MSDs. Further studies are needed to identify possible factors that make these populations more vulnerable to MSDs.

Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect

PubMed Central

Hossein-Nezhad, A.; Tabatabaei, F.

2017-01-01

ABSTRACT Objective: To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN). Patients and Methods: We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010–2015) period. We also present 6 index cases in which the court concluded that there was no convincing evidence of child abuse and the infants were returned to their parents. Institutional Review Board (IRB) approval was obtained. Results: We present 72 cases of infants with multiple fractures diagnosed to be caused by non-accidental trauma. All infants were younger than one year of age. Among them, 93%(67) had clinical evidence of EDS and/or a family history with a confirmed clinical diagnosis of at least one parent having EDS and the other 7%(5) without evidence of EDS had vitamin D deficiency/infantile rickets. Three of the EDS infants were diagnosed as osteogenesis imperfecta (OI)/EDS overlap syndrome. The most common fractures noted at diagnosis were ribs and extremity fractures (including classic metaphyseal lesions). Serum levels of 25-hydroxyvitamin D [25(OH)D] were reported in 48 infants (18.0 ± 8.5 ng/ml) and in 30 mothers (21.3 ± 11.7 ng/ml). Sixty-three percent (27) of the EDS infants who had their serum 25(OH)D measured were vitamin D deficient 25(OH)D<20 ng/ml and 5 were vitamin D sufficient 25(OH)D>30 ng/ml. The mean serum level for infants with vitamin D deficiency/rickets was (10.2 ± 3.0 ng/ml) Conclusion: EDS, OI/EDS and vitamin D deficiency/infantile rickets are associated with fragility fractures in infants that can be misinterpreted as caused by non-accidental trauma due to child abuse. PMID:29511428

[Musculoskeletal system as a target organ of a frailty processes].

PubMed

Zlobina, I A; Krivtsunov, A N; Bogat, S V; Prashchayeu, K I

Pathology of the musculoskeletal system is widespread in the population and is one of the most common diseases of patients in older age groups. The most significant of them are osteoporosis, osteoarthritis and sarcopenia. All three components separately, of course, lead to lower quality of life. In our work we show the mechanisms of interference of these states at each other, and their combined impact on the musculoskeletal system as a target organ processes senile asthenia. Osteoarthritis, osteoporosis, and sarcopenia, and especially their combination lead to hypomobility. Hypomobility under the influence of external factors is one of the leading syndromes potentiating aggravation processes senile asthenia. Thus, the mechanism of re-entry is triggered, and a vicious circle leading to fatal medical-social and social consequences. It is shown that changes in the musculoskeletal system should be considered as a single aging within senile asthenia, and all used and newly created medical and social rehabilitation and prevention programs should be integrated in nature.

Marfan Syndrome: A Clinical Update.

PubMed

Bitterman, Adam D; Sponseller, Paul D

2017-09-01

Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

PubMed Central

Fichera, Alessandro; De Luna, Vincenzo; Mancini, Federico; Caterini, Roberto

2016-01-01

Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications. PMID:28050285

Basal cell carcinoma arising in association with a maxillary keratocyst in a patient with Gorlin-Goltz syndrome. Report of a case.

PubMed

Lazaridou, Maria Nikolaou; Dimitrakopoulos, Ioannis; Tilaveridis, Ioannis; Iliopoulos, Christos; Heva, Antigoni

2012-03-01

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder which is characterized by the presence of multiple basal cell carcinomas, maxillary keratocysts, and musculoskeletal anomalies. We present a case of a patient suffering from Gorlin-Goltz syndrome who developed an intraosseous basal cell carcinoma associated with a recurrent maxillary keratocyst. To our knowledge, this is the first case of malignant transformation of a keratocyst into a basal cell carcinoma described in the literature. This case highlights the importance of careful histologic examination of keratocysts excised in patients suffering from Gorlin-Goltz syndrome.

Sensorimotor control and neuromuscular activity of the shoulder in adolescent competitive swimmers with generalized joint hypermobility.

PubMed

Frydendal, Thomas; Eshøj, Henrik; Liaghat, Behnam; Edouard, Pascal; Søgaard, Karen; Juul-Kristensen, Birgit

2018-05-05

Shoulder pain is highly prevalent in competitive swimmers, and generalized joint hypermobility (GJH) is considered a risk factor. Sensorimotor control deficiencies and altered neuromuscular activation of the shoulder may represent underlying factors. To investigate whether competitive swimmers with GJH including shoulder hypermobility (GJHS) differ in shoulder sensorimotor control and muscle activity from those without GJH and no shoulder hypermobility (NGJH). Competitive swimmers (aged 13-17) were recruited. GJHS or NGJH status was determined using the Beighton score (0-9) and Rotès-Quérol test (positive/negative). Inclusion criteria for GJHS were a Beighton score ≥5 and minimum one hypermobile shoulder, while NGJH was defined as a Beighton score ≤3 and no shoulder hypermobility. Three prone lying, upper-extremity weight-bearing shoulder stabilometric tests were performed on a force platform: Bilateral upper-extremity support eyes open (BL-EO) and eyes closed (BL-EC) and unilateral upper-extremity support eyes open (UL-EO). Surface electromyography (SEMG) was measured from the upper trapezius, lower trapezius, serratus anterior, infraspinatus and pectoralis major muscles. SEMG was normalized using maximal voluntary isometric contractions and presented relative to maximal voluntary SEMG (%MVE). Co-contraction index (CCI) was calculated for the following muscle pairs: upper trapezius-lower trapezius, upper trapezius-serratus anterior, and infraspinatus-pectoralis major. Between-group differences in stabilometric parameters, %MVE, and CCI were analyzed with a mixed effects model. Thirty-eight swimmers were enrolled as GJHS (n = 19) or NGJH (n = 19). There were no group differences in stabilometric parameters or CCI. GJHS displayed significantly decreased (29%) pectoralis major activity during BL-EO compared to NGJH (5.35 ± 1.77%MVE vs. 7.51 ± 1.96%MVE; p = 0.043). Adolescent competitive swimmers with GJHS displayed no shoulder sensorimotor control deficiencies and no generally altered shoulder muscle activity pattern, except for decreased pectoralis major activity in BL-EO. Longitudinal studies are needed to investigate whether decreased pectoralis major activation contributes to the development of shoulder pain in swimmers with GJHS. Copyright © 2018 Elsevier B.V. All rights reserved.

Emotional Wellness of Current Musculoskeletal Radiology Fellows.

PubMed

Porrino, Jack; Mulcahy, Michael J; Mulcahy, Hyojeong; Relyea-Chew, Annemarie; Chew, Felix S

2017-06-01

Burnout is a psychological syndrome composed of emotional exhaustion, depersonalization, and sense of lack of personal accomplishment, as a result of prolonged occupational stress. The purpose of our study was to determine the prevalence of burnout among current musculoskeletal radiology fellows and to explore causes of emotional stress. A 24-item survey was constructed on SurveyMonkey using the Maslach Burnout Inventory. We identified 82 musculoskeletal radiology fellowship programs. We recruited subjects indirectly through the program director or equivalent. Fifty-eight respondents (48 male, 10 female) identified themselves as current musculoskeletal radiology fellows and completed the survey. Comparison of the weighted subscale means in our data to the Maslach normative subscale thresholds for medical occupations indicates that musculoskeletal radiology fellows report relatively high levels of burnout with regard to lack of personal accomplishment and depersonalization, whereas emotional exhaustion levels in our sample are within the average range reported by Maslach. Although male musculoskeletal radiology fellows experience relatively high levels in two of the three dimensions of burnout (depersonalization and personal accomplishment), female musculoskeletal radiology fellows experience relatively high burnout across all three dimensions. Job market-related stress and the effort required providing care for dependents significantly affect personal accomplishment. Conversely, imbalances in the work-life relationship and feelings of powerlessness are significantly associated with depersonalization and emotional exhaustion. Musculoskeletal radiology fellows report relatively high levels of burnout. Because the consequences of burnout can be severe, early identification and appropriate intervention should be a priority. Copyright © 2017 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

Obesity, Metabolic Syndrome, and Musculoskeletal Disease: Common Inflammatory Pathways Suggest a Central Role for Loss of Muscle Integrity.

PubMed

Collins, Kelsey H; Herzog, Walter; MacDonald, Graham Z; Reimer, Raylene A; Rios, Jaqueline L; Smith, Ian C; Zernicke, Ronald F; Hart, David A

2018-01-01

Inflammation can arise in response to a variety of stimuli, including infectious agents, tissue injury, autoimmune diseases, and obesity. Some of these responses are acute and resolve, while others become chronic and exert a sustained impact on the host, systemically, or locally. Obesity is now recognized as a chronic low-grade, systemic inflammatory state that predisposes to other chronic conditions including metabolic syndrome (MetS). Although obesity has received considerable attention regarding its pathophysiological link to chronic cardiovascular conditions and type 2 diabetes, the musculoskeletal (MSK) complications (i.e., muscle, bone, tendon, and joints) that result from obesity-associated metabolic disturbances are less frequently interrogated. As musculoskeletal diseases can lead to the worsening of MetS, this underscores the imminent need to understand the cause and effect relations between the two, and the convergence between inflammatory pathways that contribute to MSK damage. Muscle mass is a key predictor of longevity in older adults, and obesity-induced sarcopenia is a significant risk factor for adverse health outcomes. Muscle is highly plastic, undergoes regular remodeling, and is responsible for the majority of total body glucose utilization, which when impaired leads to insulin resistance. Furthermore, impaired muscle integrity, defined as persistent muscle loss, intramuscular lipid accumulation, or connective tissue deposition, is a hallmark of metabolic dysfunction. In fact, many common inflammatory pathways have been implicated in the pathogenesis of the interrelated tissues of the musculoskeletal system (e.g., tendinopathy, osteoporosis, and osteoarthritis). Despite these similarities, these diseases are rarely evaluated in a comprehensive manner. The aim of this review is to summarize the common pathways that lead to musculoskeletal damage and disease that result from and contribute to MetS. We propose the overarching hypothesis that there is a central role for muscle damage with chronic exposure to an obesity-inducing diet. The inflammatory consequence of diet and muscle dysregulation can result in dysregulated tissue repair and an imbalance toward negative adaptation, resulting in regulatory failure and other musculoskeletal tissue damage. The commonalities support the conclusion that musculoskeletal pathology with MetS should be evaluated in a comprehensive and integrated manner to understand risk for other MSK-related conditions. Implications for conservative management strategies to regulate MetS are discussed, as are future research opportunities.

Obesity, Metabolic Syndrome, and Musculoskeletal Disease: Common Inflammatory Pathways Suggest a Central Role for Loss of Muscle Integrity

PubMed Central

Collins, Kelsey H.; Herzog, Walter; MacDonald, Graham Z.; Reimer, Raylene A.; Rios, Jaqueline L.; Smith, Ian C.; Zernicke, Ronald F.; Hart, David A.

2018-01-01

Inflammation can arise in response to a variety of stimuli, including infectious agents, tissue injury, autoimmune diseases, and obesity. Some of these responses are acute and resolve, while others become chronic and exert a sustained impact on the host, systemically, or locally. Obesity is now recognized as a chronic low-grade, systemic inflammatory state that predisposes to other chronic conditions including metabolic syndrome (MetS). Although obesity has received considerable attention regarding its pathophysiological link to chronic cardiovascular conditions and type 2 diabetes, the musculoskeletal (MSK) complications (i.e., muscle, bone, tendon, and joints) that result from obesity-associated metabolic disturbances are less frequently interrogated. As musculoskeletal diseases can lead to the worsening of MetS, this underscores the imminent need to understand the cause and effect relations between the two, and the convergence between inflammatory pathways that contribute to MSK damage. Muscle mass is a key predictor of longevity in older adults, and obesity-induced sarcopenia is a significant risk factor for adverse health outcomes. Muscle is highly plastic, undergoes regular remodeling, and is responsible for the majority of total body glucose utilization, which when impaired leads to insulin resistance. Furthermore, impaired muscle integrity, defined as persistent muscle loss, intramuscular lipid accumulation, or connective tissue deposition, is a hallmark of metabolic dysfunction. In fact, many common inflammatory pathways have been implicated in the pathogenesis of the interrelated tissues of the musculoskeletal system (e.g., tendinopathy, osteoporosis, and osteoarthritis). Despite these similarities, these diseases are rarely evaluated in a comprehensive manner. The aim of this review is to summarize the common pathways that lead to musculoskeletal damage and disease that result from and contribute to MetS. We propose the overarching hypothesis that there is a central role for muscle damage with chronic exposure to an obesity-inducing diet. The inflammatory consequence of diet and muscle dysregulation can result in dysregulated tissue repair and an imbalance toward negative adaptation, resulting in regulatory failure and other musculoskeletal tissue damage. The commonalities support the conclusion that musculoskeletal pathology with MetS should be evaluated in a comprehensive and integrated manner to understand risk for other MSK-related conditions. Implications for conservative management strategies to regulate MetS are discussed, as are future research opportunities. PMID:29527173

Ectomorphic somatotype and joint hypermobility are linked in panic and agoraphobic patients: a case-control study.

PubMed

Pailhez, Guillem; Rosado, Silvia; Baeza-Velasco, Carolina; Bulbena, Antonio

2014-06-01

To test whether there is an association between somatotype measures, joint hypermobility (JH), and panic and/or agoraphobia (PA). Sociodemographic characteristics, somatotype, and JH status were assessed in 60 patients (30 men and 30 women) with PA and 60 non-clinical controls, matched by age and gender. Patients and controls categorized by gender did not differ in terms of age, educational degree, marital status, or labour situation. There were significant differences between mean somatotype groups both in men and women. Men and women somatotype patients were significantly less endomorphic and more ectomorphic than controls. Hypermobility was significantly more frequent in both male and female patients. In the entire sample, 38.3% of patients and 13.3% of controls were categorized as ectomorphic (χ(2) = 8.5, p = 0.004). After adjusting for age and sex, ectomorphic somatotype was independently related to JH status [OR = 3.25, 95% CI 1.35-7.8, p = 0.008]. Since PA may be associated with JH, it is suggested that the relationship found between panic and ectomorphic somatotype might be mediated through JH.

Oral Supplementation of Melatonin Protects against Fibromyalgia-Related Skeletal Muscle Alterations in Reserpine-Induced Myalgia Rats.

PubMed

Favero, Gaia; Trapletti, Valentina; Bonomini, Francesca; Stacchiotti, Alessandra; Lavazza, Antonio; Rodella, Luigi Fabrizio; Rezzani, Rita

2017-06-29

Fibromyalgia is a chronic syndrome characterized by widespread musculoskeletal pain and an extensive array of other symptoms including disordered sleep, fatigue, depression and anxiety. Important factors involved in the pathogenic process of fibromyalgia are inflammation and oxidative stress, suggesting that ant-inflammatory and/or antioxidant supplementation might be effective in the management and modulation of this syndrome. Recent evidence suggests that melatonin may be suitable for this purpose due to its well known ant-inflammatory, antioxidant and analgesic effects. Thus, in the current study, the effects of the oral supplementation of melatonin against fibromyalgia-related skeletal muscle alterations were evaluated. In detail, 90 Sprague Dawley rats were randomly treated with reserpine, to reproduce the pathogenic process of fibromyalgia and thereafter they received melatonin. The animals treated with reserpine showed moderate alterations at hind limb skeletal muscles level and had difficulty in moving, together with significant morphological and ultrastructural alterations and expression of inflammatory and oxidative stress markers in the gastrocnemius muscle. Interestingly, melatonin, dose and/or time dependently, reduced the difficulties in spontaneous motor activity and the musculoskeletal morphostructural, inflammatory, and oxidative stress alterations. This study suggests that melatonin in vivo may be an effective tool in the management of fibromyalgia-related musculoskeletal morphofunctional damage.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

PubMed

Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

PubMed Central

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation. PMID:29270370

Chronic pelvic pain syndrome: role of a thorough clinical assessment.

PubMed

Quaghebeur, Jörgen; Wyndaele, Jean-Jacques

2015-04-01

Chronic pelvic pain syndrome (CPPS) presents with a variety of symptoms affecting multiple systems. There is no universal treatment that can be given to all patients with CPPS. The results of treatment depend greatly on an accurate diagnosis. A thorough clinical assessment, including a "four-step plan", should include paying special attention to the musculoskeletal system. This assessment is not difficult to perform and provides valuable information on possible muscular problems and neuropathy.

Prevalence of musculoskeletal disorders and rheumatic diseases in the indigenous Qom population of Rosario, Argentina.

PubMed

Quintana, Rosana; Silvestre, Adriana M R; Goñi, Mario; García, Vanina; Mathern, Nora; Jorfen, Marisa; Miljevic, Julio; Dhair, Daniel; Laithe, Matias; Conti, Silvana; Midauar, Fadua; Martin, Maria Celeste; Barrios, Maria Cecilia; Nieto, Romina; Prigione, Cristina; Sanabria, Alvaro; Gervasoni, Viviana; Grabbe, Emilio; Gontero, Romina; Peláez-Ballestas, Ingris; Pons-Estel, Bernardo A

2016-07-01

This study aimed to estimate the prevalence of musculoskeletal disorders and rheumatic diseases among the indigenous Qom (Toba) population in the city of Rosario, Santa Fe, Argentina. An analytical cross-sectional study using methodology of the Community Oriented Program for the Control of Rheumatic Diseases (COPCORD) was performed. Subjects ≥18 years of age were interviewed by advanced students of medicine and nursing, bilingual translator-facilitators, and coordinators. Individuals with musculoskeletal pain (positive cases) were evaluated sequentially for 7 days by internists and rheumatologists for diagnosis and treatment. The study included 1656 individuals (77 % of the census population). Of these, 1020 (61.5 %) were female, with mean age of 35.3 (SD 13.9) years, and 1028 (62.0 %) were bilingual. The public health care system covers 87.1 % of the population. Musculoskeletal pain in the previous 7 days and/or at some time during their life was present in 890 subjects (53.7 %). Of those with pain in the last 7 days, 302 (64.1 %) subjects had an Health Assessment Questionnaire Disability Index (HAQ-DI) score ≥0.8. The most frequent pain sites were lumbar spine (19.3 %), knees (13.0 %), and hands (12.0 %). The prevalence of rheumatic diseases was as follows: mechanical back pain (20.1 %), rheumatic regional pain syndrome (2.9 %), osteoarthritis (4.0 %) rheumatoid arthritis (2.4 %), inflammatory back pain (0.2 %), systemic sclerosis (0.1 %), Sjögren syndrome (0.1 %), fibromyalgia (0.1 %), mixed connective tissue disease (0.06 %), and systemic lupus erythematosus (0.06 %). The prevalence of musculoskeletal disorders was 53.7 % and rheumatic diseases 29.6 %. Rheumatoid arthritis prevalence was 2.4 % using COPCORD methodology, one of the highest reported at present.

Psychological and physical correlates of musculoskeletal symptoms in male professional divers and offshore workers

PubMed Central

2013-01-01

Background Underwater divers are more likely to complain of musculoskeletal symptoms than a control population. Accordingly, we conducted a study to determine whether musculoskeletal symptoms reflected observable physical disorder, to ascertain the relationship between symptoms and measures of mood, memory and executive function and to assess any need for future screening. Methods A 10% random sample of responders to a prior postal health questionnaire was examined (151 divers, 120 non-diving offshore workers). Participants underwent physical examination and a neuropsychological test battery for memory and executive function. Participants also completed the Hospital Anxiety and Depression Scale for anxiety (HADSa) and depression (HADSd), and questionnaires for physical health-related quality of life (SF36 PCS), mental health-related quality of life (SF36 MCS), memory (Cognitive Failures Questionnaire (CFQ), Prospective and Retrospective Memory Questionnaire (PRMQ)), executive function (dysexecutive syndrome questionnaire (DEX)), musculoskeletal symptoms (MSS) and general unrelated symptom reporting. Results Of participants with moderate/severe musculoskeletal symptoms, 52% had physical signs, and of participants with no symptoms, 73% had no physical signs. There was no difference in the prevalence of signs or symptoms between groups. Musculoskeletal symptoms were associated with lower SF36 PCS for both groups. In divers, musculoskeletal symptoms were associated with higher general unrelated symptom reporting and poorer scoring for HADSa, PRMQ, CFQ and DEX with scores remaining within the normative range. A positive physical examination was associated with general unrelated symptom reporting in divers. There were no differences in neuropsychological test scores attributable to either group or musculoskeletal symptoms. Conclusions Musculoskeletal symptoms were associated with physical signs, but this was not a strong effect. Reporting of musculoskeletal symptoms by the divers studied was also associated with a tendency to report symptoms generally or somatisation, and caution should be exercised regarding their interpretation as an indication of physical disease or their use for health screening. PMID:23849557

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

PubMed

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

2018-01-01

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

Musculoskeletal manifestations in diabetic versus prediabetic patients.

PubMed

Fatemi, Alimohammad; Iraj, Bijan; Barzanian, Jafar; Maracy, Mohammadreza; Smiley, Abbas

2015-09-01

This study was carried out to evaluate the prevalence of musculoskeletal manifestations in a sample of patients with diabetes mellitus (DM) and those with prediabetes and compare the findings between the two groups. One hundred and eighty-eight patients with DM and 125 prediabetic subjects were randomly enrolled in this cross-sectional study. Demographic data and past history were recorded. Musculoskeletal physical examinations were done by a single rheumatologist. Regression analyses were employed to assess the crude and adjusted effects of determinants on DM musculoskeletal manifestations (DMMMs). Female/male ratio was not significantly different between diabetic and prediabetic patients (4.4 vs. 4.7, respectively, P = 0.9). However, diabetic patients were significantly older than the prediabetic ones (56.6 vs. 52 years, respectively, P = 0.0001); 83.5% of diabetic patients and 52.8% of prediabetic ones had at least one musculoskeletal manifestation (P = 0.0001). The prevalence of knee osteoarthritis and shoulder involvement were almost two times more common (P = 0.0001 and P = 0.015) in diabetic patients than in prediabetic ones (73.4% vs. 38% and 21.2% vs. 9.5%, respectively). Prevalence of carpal tunnel syndrome (CTS) was 48% and 36.5% in patients with diabetes and prediabetes, respectively (P = 0.053). Multivariate backward regression analysis showed age, sex, BMI (body mass index) and DM as the significant determinants in development of musculoskeletal manifestations in all subjects. Age and BMI were the only significant factors associated with musculoskeletal manifestations in both diabetic and prediabetic patients. Diabetic and prediabetic patients may show high prevalence of musculoskeletal manifestations. In non-diabetic patients diagnosed with CTS, prediabetes might be ruled out. © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

Risk Factors for Musculoskeletal Symptoms Among Korean Broadcast Actors.

PubMed

Park, Moon-Hee; Kim, Ham-Gyum; Cho, Jae-Hwan

2015-01-01

Musculoskeletal diseases (MSDs) are functional disabilities in the musculoskeletal area that occur when continuous damage to the muscles or tissues is caused by performing a repetitive task. These diseases are usually found in the waist, shoulder, neck, arm, and wrist. MSD is also referred to as cumulative trauma disorder, repetitive strain injury, occupational overuse syndrome, and visual display terminal, depending on the country. The condition is now commonly referred to as work-related musculoskeletal disorder. The aim of this study was to develop a prevention plan against musculoskeletal disease and to provide better health care to broadcast actors by understanding the association between musculoskeletal symptoms and working conditions. The results of the study can be utilized to maintain effective systematic resources to treat such diseases. A survey was conducted in Seoul between January 1 and May 10, 2014 with broadcast actors working in the South Korean entertainment industry. Tests with respect to musculoskeletal symptoms indicated that the study participants were likely to experience having musculoskeletal symptoms in the shoulders, waist, neck, leg/foot, hand/wrist/finger, and arm/elbow. Most of the participants reported pain on both sides of their shoulders and in their legs/feet or on the right side of the arm/elbow and in hand/wrist/finger. Pain lasted between 1 and 7 days, with an incidence of 33.8% in the neck, 36% in the shoulders, 33.3% in the arm/elbow, 47.4% in the hand/wrist/finger, 34.7% in the waist, and 39.3% in the leg/foot. This study should prove useful in determining systematic and effective resources to prevent broadcast actors from developing MSD in the future. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

The comparison of frequency of the upper limb musculoskeletal disorders among patients with diabetes type II with normal cases.

PubMed

Kermani, Zahra Haeri; Bazzaz, Seyed Mojtaba Mousavi; Farahmand, Seyed Kazem; Raoof, Ali Akbar

2017-11-01

Musculoskeletal disease, that is recognized in diabetes and diabetes mellitus (DM) has shown a higher prevalence of chronic musculoskeletal complications. This study aimed at assessing the frequency of upper limb musculoskeletal disorders among patients with diabetes type II with normal cases in Mashhad, Iran. A cross-section of 100 patients with upper limb musculoskeletal disorders were enrolled in this study. The patients were examined by a unique physician considering carpal tunnel syndrome disorder, trigger finger, adhesive capsulitis, and Dupuytren's contracture at Ghaem hospital, Mashhad, Iran in 2015. All collected data were recorded by using SPSS version 21 and were analyzed through independent-samples t-test for comparing changes, and Chi-square. In this study, the mean age was 51.7±8.7 years old. Gender frequency was 114 (57%) male, and 86 (43%) female. There was no significant difference between groups in cases of gender frequency and mean of age (p>0.05). In evaluation of association between the two groups, there was significant difference for adhesive capsulitis, (p=0.04). Chi-square test showed significant association for age and adhesive capsulitis between the two groups, (p=0.040); but no other diabetes-related disorders, (p<0.05). The results of this study showed that in patients with diabetes mellitus and musculoskeletal complications such as upper limb musculoskeletal abnormalities, it will lead to an increase in skeletal muscle effects in DM patients. It is recommended that musculoskeletal examination is done periodically in DM patients for identification of these disorders and necessary actions are carried out for prevention of the disorders as soon as possible.

Mind-Body Interactions in Anxiety and Somatic Symptoms.

PubMed

Mallorquí-Bagué, Núria; Bulbena, Antonio; Pailhez, Guillem; Garfinkel, Sarah N; Critchley, Hugo D

2016-01-01

Anxiety and somatic symptoms have a high prevalence in the general population. A mechanistic understanding of how different factors contribute to the development and maintenance of these symptoms, which are highly associated with anxiety disorders, is crucial to optimize treatments. In this article, we review recent literature on this topic and present a redefined model of mind-body interaction in anxiety and somatic symptoms, with an emphasis on both bottom-up and top-down processes. Consideration is given to the role played in this interaction by predisposing physiological and psychological traits (e.g., interoception, anxiety sensitivity, and trait anxiety) and to the levels at which mindfulness approaches may exert a therapeutic benefit. The proposed model of mind-body interaction in anxiety and somatic symptoms is appraised in the context of joint hypermobility syndrome, a constitutional variant associated with autonomic abnormalities and vulnerability to anxiety disorders.

Presentation and management of trapped neutrophil syndrome (TNS) in UK Border collies.

PubMed

Mason, S L; Jepson, R; Maltman, M; Batchelor, D J

2014-01-01

Three UK bred Border collie puppies were presented for investigation of pyrexia and severe lameness with associated joint swelling. Investigations revealed neutropenia, radiographic findings suggesting metaphyseal osteopathy, and polyarthritis and all dogs were subsequently confirmed with trapped neutrophil syndrome. Clinical improvement was seen after treatment with prednisolone and antibiotics and the dogs all survived to adulthood with a good short- to medium-term outcome. Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs. © 2013 British Small Animal Veterinary Association.

Generalised joint hypermobility and knee joint hypermobility: prevalence, knee joint symptoms and health-related quality of life in a Danish adult population.

PubMed

Junge, Tina; Henriksen, Peter; Hansen, Sebrina; Østengaard, Lasse; Golightly, Yvonne M; Juul-Kristensen, Birgit

2017-10-27

Several biomechanical factors, such as knee joint hypermobility (KJH), are suggested to play a role in the etiology of knee joint symptoms and knee osteoarthritis. Nevertheless, the prevalence or consequences of KJH solely or included in the classification of generalized joint hypermobility (GJHk) is unknown for a general population. Therefore, the objectives were to report the prevalence of self-reported GJHk and KJH, as well as the association of these conditions to knee joint symptoms, severity and duration of symptoms, and health-related quality of life (HRQoL) in a Danish adult population. This study is a cross-sectional population-based survey of 2056 Danish adults. Respondents received online questionnaires of GJHk and KJH, knee joint symptoms, the severity and duration of these, as well as HRQoL. Total response rate was 49% (n = 1006). The prevalence of self-reported GJHk and KJH was 13% and 23%, mostly representing women. More than half of the respondents with GJHk and KJH had knee joint symptoms. The odds for reporting knee joint symptoms, severity of knee joint symptoms and duration of knee joint symptoms were twice as high for respondents with GJHk and KJH. Respondents with GJHk and KJH reported lower HRQoL. GJHk and KJH were frequently reported in the Danish adult population, mostly in women. Respondents with GJHk and KJH were two times more likely to report knee joint-related symptoms such as pain, reduced performance of usual activity and lower HRQoL. The impact of these conditions on HRQoL is comparable with knee osteoarthritis. © 2017 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

Prevalence and predictors of adolescent idiopathic scoliosis in adolescent ballet dancers.

PubMed

Longworth, Brooke; Fary, Robyn; Hopper, Diana

2014-09-01

To determine any differences between the prevalence of adolescent idiopathic scoliosis in ballet dancers who are girls compared with age-matched nondancers, and to establish if any relations exist between the presence of scoliosis and generalized joint hypermobility, age of menarche, body mass index (BMI), and the number of hours of dance training per week. Cross-sectional, matched pair study. Dance school. Dancers (n=30) between the ages of 9 and 16 years were recruited from a certified dance school in Western Australia; each dancer provided a consenting age-matched nondancer (n=30). Not applicable. Measurements were taken for angle of trunk rotation using a scoliometer (presence of scoliosis) and for height and weight to produce generalized joint hypermobility using Beighton criteria and an age-adjusted BMI, respectively. A subjective questionnaire regarding age of menarche and participation in dance and other sports was completed. Thirty percent of dancers tested positive for scoliosis compared with 3% of nondancers. Odds ratio calculations suggest that dancers were 12.4 times more likely to have scoliosis than nondancers of the same age. There was a higher rate of hypermobility in the dancer group (70%) compared with the nondancers (3%); however, there were no statistically significant relations between scoliosis and hypermobility, age of menarche, BMI, or hours of dance per week. Adolescent dancers, similar to adult dancers, are at significantly higher risk of developing scoliosis than nondancers of the same age. Vigilant screening and improved education of dance teachers and parents of dance students may be beneficial in earlier detection and, consequently, reducing the risk of requiring surgical intervention. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Effectiveness of manual therapies: the UK evidence report

PubMed Central

2010-01-01

Background The purpose of this report is to provide a succinct but comprehensive summary of the scientific evidence regarding the effectiveness of manual treatment for the management of a variety of musculoskeletal and non-musculoskeletal conditions. Methods The conclusions are based on the results of systematic reviews of randomized clinical trials (RCTs), widely accepted and primarily UK and United States evidence-based clinical guidelines, plus the results of all RCTs not yet included in the first three categories. The strength/quality of the evidence regarding effectiveness was based on an adapted version of the grading system developed by the US Preventive Services Task Force and a study risk of bias assessment tool for the recent RCTs. Results By September 2009, 26 categories of conditions were located containing RCT evidence for the use of manual therapy: 13 musculoskeletal conditions, four types of chronic headache and nine non-musculoskeletal conditions. We identified 49 recent relevant systematic reviews and 16 evidence-based clinical guidelines plus an additional 46 RCTs not yet included in systematic reviews and guidelines. Additionally, brief references are made to other effective non-pharmacological, non-invasive physical treatments. Conclusions Spinal manipulation/mobilization is effective in adults for: acute, subacute, and chronic low back pain; migraine and cervicogenic headache; cervicogenic dizziness; manipulation/mobilization is effective for several extremity joint conditions; and thoracic manipulation/mobilization is effective for acute/subacute neck pain. The evidence is inconclusive for cervical manipulation/mobilization alone for neck pain of any duration, and for manipulation/mobilization for mid back pain, sciatica, tension-type headache, coccydynia, temporomandibular joint disorders, fibromyalgia, premenstrual syndrome, and pneumonia in older adults. Spinal manipulation is not effective for asthma and dysmenorrhea when compared to sham manipulation, or for Stage 1 hypertension when added to an antihypertensive diet. In children, the evidence is inconclusive regarding the effectiveness for otitis media and enuresis, and it is not effective for infantile colic and asthma when compared to sham manipulation. Massage is effective in adults for chronic low back pain and chronic neck pain. The evidence is inconclusive for knee osteoarthritis, fibromyalgia, myofascial pain syndrome, migraine headache, and premenstrual syndrome. In children, the evidence is inconclusive for asthma and infantile colic. PMID:20184717

Clinical presentation and manual therapy for lower quadrant musculoskeletal conditions.

PubMed

Courtney, Carol A; Clark, Jeffrey D; Duncombe, Alison M; O'Hearn, Michael A

2011-11-01

Chronic lower quadrant injuries constitute a significant percentage of the musculoskeletal cases seen by clinicians. While impairments may vary, pain is often the factor that compels the patient to seek medical attention. Traumatic injury from sport is one cause of progressive chronic joint pain, particularly in the lower quarter. Recent studies have demonstrated the presence of peripheral and central sensitization mechanisms in different lower quadrant pain syndromes, such as lumbar spine related leg pain, osteoarthritis of the knee, and following acute injuries such as lateral ankle sprain and anterior cruciate ligament rupture. Proper management of lower quarter conditions should include assessment of balance and gait as increasing pain and chronicity may lead to altered gait patterns and falls. In addition, quantitative sensory testing may provide insight into pain mechanisms which affect management and prognosis of musculoskeletal conditions. Studies have demonstrated analgesic effects and modulation of spinal excitability with use of manual therapy techniques, with clinical outcomes of improved gait and functional ability. This paper will discuss the evidence which supports the use of manual therapy for lower quarter musculoskeletal dysfunction.

Musculoskeletal disorders among construction apprentices in Hungary.

PubMed

Rosecrance, J; Pórszász, J; Cook, T; Fekecs, E; Karácsony, T; Merlino, L; Anton, D

2001-11-01

The purpose of this study was to determine the prevalence of occupationally related musculoskeletal disorder (MSD) symptoms and carpal tunnel syndrome (CTS) among construction apprentices in Hungary. Symptoms of occupational MSDs and the job factors contributing to the symptoms were determined through an administered symptom and job factors survey. The prevalence of CTS was based on a case definition that included hand symptoms and nerve conduction studies of the median nerve across the carpal tunnel. The participation rate was 96% among the 201 eligible construction apprentices. More than 50% of the apprentices reported occupationally related musculoskeletal symptoms in the previous 12 months. Job tasks that required awkward postures and working in a static position were the two factors that contributed most to MSD symptoms. No cases of CTS were found in this sample of apprentices. Although disorders of the musculoskeletal system are more prevalent among experienced construction workers, this study indicated that symptoms of MSDs are present among young construction workers. Assessing the magnitude and nature of occupational related MSDs is the first step in promoting a healthier, safer, and more efficient workforce.

MUSCULOSKELETAL SCREENING AND FUNCTIONAL TESTING: CONSIDERATIONS FOR BASKETBALL ATHLETES

PubMed Central

Markwick, William J.

2016-01-01

Background and Purpose Youth participation in basketball is on the rise, with basketball one of the top five participation sports in Australia. With increased participation there is a need for greater awareness of the importance of the pre-participation examination, including musculoskeletal screening and functional performance testing as part of a multidisciplinary approach to reducing the risk for future injuries. As majority of all basketball injuries affect the lower extremities, pre-participation musculoskeletal screening and functional performance testing should assess fundamental movement qualities throughout the kinetic chain with an emphasis on lower extremity force characteristics, specifically eccentric loading tasks. Thus, the purpose of this clinical commentary is to review the existing literature elucidating pre-participation musculoskeletal screening and functional performance tests that can be used as a framework for rehabilitation professionals in assessing basketball athletes’ readiness to safely perform the movement demands of their sport. Methods Relevant articles published between 2000 and 2016 using the search terms ‘musculoskeletal screening’, ‘functional testing’, ‘youth athletes’, and ‘basketball’ were identified using MEDLINE. From a basketball-specific perspective, several relevant musculoskeletal assessments were identified, including: the Functional Hop Test Combination, the Landing Error Scoring System, the Tuck Jump Assessment, the Weight-Bearing Lunge Test, and the Star Excursion Balance Test. Each of these assessments creates movement demands that allow for easy identification of inefficient and/or compensatory movement tendencies. A basic understanding of musculoskeletal deficits including bilateral strength and flexibility imbalances, lower crossed syndrome, and dominance-related factors are key components in determination of injury risk. Discussion Assessment of sport-specific movement demands through musculoskeletal screening and functional performance testing is essential for rehabilitation professionals to determine movement competency during performance of fundamental movements related to basketball performance. Youth athletes represent a unique population due to their developing musculoskeletal and neuromuscular systems and should undergo pre-participation musculoskeletal screening for identification of movement limitations. Such an approach to musculoskeletal screening and functional performance may assist in identifying injury risk and also be useful at the end of rehabilitation in determining readiness to return to sport models. Level of Evidence Level 5 PMID:27757291

MUSCULOSKELETAL SCREENING AND FUNCTIONAL TESTING: CONSIDERATIONS FOR BASKETBALL ATHLETES.

PubMed

Bird, Stephen P; Markwick, William J

2016-10-01

Youth participation in basketball is on the rise, with basketball one of the top five participation sports in Australia. With increased participation there is a need for greater awareness of the importance of the pre-participation examination, including musculoskeletal screening and functional performance testing as part of a multidisciplinary approach to reducing the risk for future injuries. As majority of all basketball injuries affect the lower extremities, pre-participation musculoskeletal screening and functional performance testing should assess fundamental movement qualities throughout the kinetic chain with an emphasis on lower extremity force characteristics, specifically eccentric loading tasks. Thus, the purpose of this clinical commentary is to review the existing literature elucidating pre-participation musculoskeletal screening and functional performance tests that can be used as a framework for rehabilitation professionals in assessing basketball athletes' readiness to safely perform the movement demands of their sport. Relevant articles published between 2000 and 2016 using the search terms 'musculoskeletal screening', 'functional testing', 'youth athletes', and 'basketball' were identified using MEDLINE. From a basketball-specific perspective, several relevant musculoskeletal assessments were identified, including: the Functional Hop Test Combination, the Landing Error Scoring System, the Tuck Jump Assessment, the Weight-Bearing Lunge Test, and the Star Excursion Balance Test. Each of these assessments creates movement demands that allow for easy identification of inefficient and/or compensatory movement tendencies. A basic understanding of musculoskeletal deficits including bilateral strength and flexibility imbalances, lower crossed syndrome, and dominance-related factors are key components in determination of injury risk. Assessment of sport-specific movement demands through musculoskeletal screening and functional performance testing is essential for rehabilitation professionals to determine movement competency during performance of fundamental movements related to basketball performance. Youth athletes represent a unique population due to their developing musculoskeletal and neuromuscular systems and should undergo pre-participation musculoskeletal screening for identification of movement limitations. Such an approach to musculoskeletal screening and functional performance may assist in identifying injury risk and also be useful at the end of rehabilitation in determining readiness to return to sport models. Level 5.

The Economic Burden of Musculoskeletal Disease in Children and Adolescents in the United States.

PubMed

Rosenfeld, Scott B; Schroeder, Katherine; Watkins-Castillo, Sylvia I

2018-04-01

Musculoskeletal conditions are among the most common and costly conditions suffered by Americans. In 2011, there was an estimated $213 billion in annual cost of direct treatment for and lost wages due to musculoskeletal disease in the United States. Data on economic burden, however, comes mostly from the adult population, with significantly less information regarding the burden of these conditions in young patients available. The purpose of this report is to provide data on the economic burden of musculoskeletal diseases in children and adolescents in the United States. Eleven diagnosis categories were identified, with health care visits and hospitalization data derived from ICD-9-CM codes for each of the conditions searched. The largest database utilized was the Healthcare Cost and Utilization Project (HCUP) Kids' Inpatient Database (KID). Total visits came from the KID, HCUP NEDS (emergency department), NCHS NHAMCS OP (outpatient), and NCHS NAMCS (physician office) databases. The National Health Interview Survey (NHIS) child sample was additionally searched to obtain patient/parent-reported data. In 2012, more than 19 million children and adolescents received treatment in medical centers, physicians' offices, and hospitals for a musculoskeletal-related condition. The most common reason for treatment (68%) was traumatic injury, followed by a pain syndrome (13%) and deformity (9%). Total hospital charges in 2012 for children and adolescents with a primary musculoskeletal-related diagnosis totaled $7.6 billion. Trauma (43%) and deformity (38%) were the major contributors to total hospital charges. Although we found that hospital-related charges for musculoskeletal diseases for children and adolescents in 2012 totaled $7.6 billion, this number underestimates the total cost for all pediatric musculoskeletal conditions. Musculoskeletal conditions accounted for 5.4% of hospital charges in the pediatric population. However, only 1.4% of pediatric research funding is designated to musculoskeletal research. Going forward, the data in this report may be used to further research and to stimulate development of better methods with which to measure the direct and indirect costs of musculoskeletal conditions in children. Level IV-economic and decision analysis.

Locomotive syndrome: clinical perspectives

PubMed Central

Ikemoto, Tatsunori; Arai, Young-Chang

2018-01-01

The deterioration of locomotive components, which comprise bones, joints, and intervertebral discs, and muscles and nerves, can lead to symptoms such as pain, limitations in the range of joint mobility, malalignment, impaired balance, and difficulty walking. Locomotive syndrome (LoS) was proposed by the Japanese Orthopedic Association in 2007 as a concept for people who are at a high risk of developing a musculoskeletal ambulation disability attributed to locomotor organs. Although many international articles related to LoS have been published, an international consensus of this concept seems to be lacking. This review article on LoS introduces the concept, the related assessment methods, and the condition’s prevalence based on the most up-to-date literature, and discusses discrimination from frailty and sarcopenia, relevance to musculoskeletal problems, management plan, and future directions. Familiarity with recent evidence would be useful for the health care providers in an aging society to educate individuals with LoS or pre-LoS and to maintain their well-being and prevent them from requiring long-term care. PMID:29750024

MR imaging of the pelvis: a guide to incidental musculoskeletal findings for abdominal radiologists.

PubMed

Gaetke-Udager, Kara; Girish, Gandikota; Kaza, Ravi K; Jacobson, Jon; Fessell, David; Morag, Yoav; Jamadar, David

2014-08-01

Occasionally patients who undergo magnetic resonance imaging for presumed pelvic disease demonstrate unexpected musculoskeletal imaging findings in the imaged field. Such incidental findings can be challenging to the abdominal radiologist, who may not be familiar with their appearance or know the appropriate diagnostic considerations. Findings can include both normal and abnormal bone marrow, osseous abnormalities such as Paget's disease, avascular necrosis, osteomyelitis, stress and insufficiency fractures, and athletic pubalgia, benign neoplasms such as enchondroma and bone island, malignant processes such as metastasis and chondrosarcoma, soft tissue processes such as abscess, nerve-related tumors, and chordoma, joint- and bursal-related processes such as sacroiliitis, iliopsoas bursitis, greater trochanteric pain syndrome, and labral tears, and iatrogenic processes such as bone graft or bone biopsy. Though not all-encompassing, this essay will help abdominal radiologists to identify and describe this variety of pelvic musculoskeletal conditions, understand key radiologic findings, and synthesize a differential diagnosis when appropriate.

Lysosomal storage disorders: A review of the musculoskeletal features.

PubMed

James, Rebecca A; Singh-Grewal, Davinder; Lee, Senq-J; McGill, Jim; Adib, Navid

2016-03-01

The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur early in the disease course, hence are useful as diagnostics clues. Non-inflammatory joint stiffness or pain, carpal tunnel syndrome, trigger fingers, unexplained pain crises and short stature should all prompt consideration of a lysosomal storage disorder. Recurrent ENT infections, hepatosplenomegaly, recurrent hernias and visual/hearing impairment - especially when clustered together - are important extra-skeletal features. As diagnostic and therapeutic options continue to evolve, children with lysosomal storage disorders and their families are facing more sophisticated options for screening and treatment. The aim of this article is to highlight the paediatric presentations of lysosomal storage disorders, with an emphasis on the musculoskeletal features. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.

PubMed

Ozen, Seza; Demir, Selcan

2017-08-01

Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.

Chronic widespread musculoskeletal pain, fatigue, depression and disordered sleep in chronic post-SARS syndrome; a case-controlled study.

PubMed

Moldofsky, Harvey; Patcai, John

2011-03-24

The long term adverse effects of Severe Acute Respiratory Syndrome (SARS), a viral disease, are poorly understood. Sleep physiology, somatic and mood symptoms of 22 Toronto subjects, 21 of whom were healthcare workers, (19 females, 3 males, mean age 46.29 yrs.+/- 11.02) who remained unable to return to their former occupation (mean 19.8 months, range: 13 to 36 months following SARS) were compared to 7 healthy female subjects. Because of their clinical similarities to patients with fibromyalgia syndrome (FMS) these post-SARS subjects were similarly compared to 21 drug free female patients, (mean age 42.4 +/- 11.8 yrs.) who fulfilled criteria for fibromyalgia. Chronic post-SARS is characterized by persistent fatigue, diffuse myalgia, weakness, depression, and nonrestorative sleep with associated REM-related apneas/hypopneas, an elevated sleep EEG cyclical alternating pattern, and alpha EEG sleep anomaly. Post- SARS patients had symptoms of pre and post-sleep fatigue and post sleep sleepiness that were similar to the symptoms of patients with FMS, and similar to symptoms of patients with chronic fatigue syndrome. Both post-SARS and FMS groups had sleep instability as indicated by the high sleep EEG cyclical alternating pattern rate. The post-SARS group had a lower rating of the alpha EEG sleep anomaly as compared to the FMS patients. The post-SARS group also reported less pre-sleep and post-sleep musculoskeletal pain symptoms. The clinical and sleep features of chronic post-SARS form a syndrome of chronic fatigue, pain, weakness, depression and sleep disturbance, which overlaps with the clinical and sleep features of FMS and chronic fatigue syndrome.

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception.

PubMed

Scheper, Mark; Rombaut, Lies; de Vries, Janneke; De Wandele, Inge; van der Esch, Martin; Visser, Bart; Malfait, Franciska; Calders, Patrick; Engelbert, Raoul

2017-07-01

The patients diagnosed with Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT) are characterized by pain, proprioceptive inacuity, muscle weakness, potentially leading to activity limitations. In EDS-HT, a direct relationship between muscle strength, proprioception and activity limitations has never been studied. The objective of the study was to establish the association between muscle strength and activity limitations and the impact of proprioception on this association in EDS-HT patients. Twenty-four EDS-HT patients were compared with 24 controls. Activity limitations were quantified by Health Assessment Questionnaire (HAQ), Six-Minute Walk test (6MWT) and 30-s chair-rise test (30CRT). Muscle strength was quantified by handheld dynamometry. Proprioception was quantified by movement detection paradigm. In analyses, the association between muscle strength and activity limitations was controlled for proprioception and confounders. Muscle strength was associated with 30CRT (r = 0.67, p = <0.001), 6MWT (r = 0.58, p = <0.001) and HAQ (r = 0.63, p= <0.001). Proprioception was associated with 30CRT (r = 0.55, p < 0.001), 6MWT (r = 0.40, p = <0.05) and HAQ (r = 0.46, p < 0.05). Muscle strength was found to be associated with activity limitations, however, proprioceptive inacuity confounded this association. Muscle strength is associated with activity limitations in EDS-HT patients. Joint proprioception is of influence on this association and should be considered in the development of new treatment strategies for patients with EDS-HT. Implications for rehabilitation Reducing activity limitations by enhancing muscle strength is frequently applied in the treatment of EDS-HT patients. Although evidence regarding treatment efficacy is scarce, the current paper confirms the rationality that muscle strength is an important factor in the occurrence of activity limitations in EDS-HT patients. Although muscle strength is the most dominant factor that is associated with activity limitations, this association is confounded by proprioception. In contrast to common belief proprioception was not directly associated with activity limitations but confounded this association. Controlling muscle strength on the bases of proprioceptive input may be more important for reducing activity limitations than just enhancing sheer muscle strength.

Searching for a Gulf War syndrome using cluster analysis.

PubMed

Everitt, B; Ismail, K; David, A S; Wessely, S

2002-11-01

Gulf veterans report medically unexplained symptoms more frequently than non-Gulf veterans did. We examined whether Gulf and non-Gulf veterans could be distinguished by their patterns of symptom reporting. A k-means cluster analysis was applied to 500 randomly sampled veterans from each of three United Kingdom military cohorts of veterans; those deployed to the Gulf conflict between 1990 and 1991; to the Bosnia peacekeeping mission between 1992 and 1997; and military personnel who were in active service but not deployed to the Gulf (Era). Sociodemographic, health variables and scores for ten symptom groups were calculated. The gap statistic indicated the five-group solution as one that provided a particularly informative description of the structure in the data. Cluster 1 consisted of low scores for all symptom groups. Cluster 2 had veterans with highest symptom scores for musculoskeletal symptoms and high scores for psychiatric symptoms. Cluster 3 had high scores for psychiatric symptoms and marginally elevated scores for the remaining nine groups symptom groups. Cluster 4 had elevated scores for musculoskeletal symptoms only and cluster 5 was distinguishable from the other clusters in having high scores in all symptom groups, especially psychiatric and musculoskeletal. The findings do not support the existence of a unique syndrome affecting a subgroup of Gulf veterans but emphasize the excess of non-specific self-reported ill health in this group.

Risks of musculoskeletal disorders among betel quid preparers in Taiwan.

PubMed

Chang, Jer-Hao; Wu, Jyun-De; Chen, Chih-Yong; Sumd, Shih-Bin; Yin, Hsin-I; Hsu, Der-Jen

2014-04-01

Betel quid chewing is common in Taiwan. The work of betel quid preparers is characterized by long hours of static work, awkward working posture and highly repetitive hand/wrist motion. However, the musculoskeletal health of betel quid preparers receives very little attention. The Chinese version of the Standardized Nordic Musculoskeletal Questionnaire (NMQ) was administered, and electrogoniometers and electromyography were used in this cross-sectional study to characterize the hand/wrist motion of the subjects. Physical examinations on the thumbs and wrists of the subjects were conducted by means of Phalen's test and Finkelstein's test, respectively. Among the 225 participants, more than 95% attributed their musculoskeletal complaints to their work, and shoulder, neck, hand/wrist, and lower back discomfort were most frequently reported. More than 70% of the preparers did not seek medical treatment for their musculoskeletal problems. Based on the physical examination, 24% of the participants had suspected symptom of either carpal tunnel syndrome (CTS) or DeQuervain's tenosynovitis. The instrumental measurements indicated that betel quid preparation is characterized by extreme angle ranges and moderate repetition of wrist motion as well as low forceful exertion. This study concludes that betel quid preparers are a high risk group of developing musculoskeletal disorders (MSDs). Future studies by electrogoniometers and detailed physical examination on betel quid preparers are needed to determine the predisposing factors for CTS. Some intervention measures to prevent MSDs and to lessen psychological stress for this group of workers are strongly suggested. © 2014 Wiley Periodicals, Inc.

Sporotrichal Tenosynovitis Diagnosed Helpfully by Musculoskeletal Ultrasonography

PubMed Central

Shimizu, Takashi; Akita, Shosuke; Harada, Yoshinori; Oguro, Eri; Okita, Yasutaka; Shigesaka, Minoru; Matsuoka, Hidetoshi; Nii, Takuro; Teshigawara, Satoru; Kudo-Tanaka, Eriko; Tsuji, Soichiro; Matsushita, Masato; Ohshima, Shiro; Hoshida, Yoshihiko; Hashimoto, Jun; Saeki, Yukihiko

2017-01-01

A 72-year-old man presented with persistent oligoarthritis and positive results for rheumatoid factor and was suspected of having rheumatoid arthritis (RA). However, the musculoskeletal ultrasonography (MSUS) findings were not consistent with those of typical RA. He had undergone surgery for carpal tunnel syndrome, which allowed both histopathological and microbiological examinations to be performed. A synovial tissue culture was positive for Sporothrix schenckii, and he was diagnosed with sporotrichal tenosynovitis. He received anti-fungal therapy, and the sporotrichal tenosynovitis resolved. This case suggests that MSUS is a useful modality, and sporotrichal tenosynovitis, though rare, should be considered in the differential diagnosis of RA. PMID:28502945

Cogan's syndrome mimicking acute Lyme arthritis.

PubMed

Schwegmann, J P; Enzenauer, R J

1995-05-01

A pediatric case of Cogan's syndrome mimicking acute Lyme arthritis is described. A 12-year-old black boy was admitted to the pediatric service for presumed right knee septic arthritis. Symptoms included acute pain and swelling with decreased range-of-motion. Although the patient's right knee symptoms and positive Lyme serology were consistent with a diagnosis of Lyme arthritis, the presence of sensorineural hearing loss and interstitial keratitis with inflammatory arthritis suggested a diagnosis of Cogan's syndrome. Subsequent Western blot analysis was negative for Borrelia burgdorferi antigens. The patient had dramatic clinical improvement of musculoskeletal and ophthalmologic complaints shortly after receiving high-dose corticosteroids, although residual sensorineural hearing loss persisted.

Ergonomics: A Commonsense Activity That Can Save Schools Money.

ERIC Educational Resources Information Center

Fleer, Paul; Gauthier-Green, Erin

2002-01-01

Describes the use of ergonomics to reduce work-related musculoskeletal disorders such as back pain, tendonitis, and carpal tunnel syndrome. Describes ergonomics and how to identify ergonomic problems, conduct a job hazard analysis, and develop solutions. Also lists common ergonomic errors in schools. Provides an ergonomic checklist for employees…

Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

PubMed

Ramachandran, Rajoo; Babu, Sellappan Rajamanickam; Ilanchezhian, Subramanian; Radhakrishnan, Prabhu Radhan

2015-01-01

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Dental management of patient with Williams Syndrome - A case report.

PubMed

Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

2015-01-01

Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

Bertolotti's syndrome revisited. Transitional vertebrae of the lumbar spine.

PubMed

Elster, A D

1989-12-01

Bertolotti's syndrome refers to the association of back pain with lumbosacral transitional vertebrae. Such vertebrae were observed in 140 of 2,000 adults with back pain over a 4-year period of study. Each patient had radiographic evaluation of the lumbar spine by plain films as well as a sectional imaging modality (magnetic resonance [MR] or computed tomography [CT]). The overall incidence of structural pathology (eg, spinal stenosis and disc protrusion) detected by CT or MR was not apparently higher in patients with transitional vertebrae, but the distribution of these lesions was significantly different. Disc bulge or herniation, when it occurred, was nearly nine times more common at the interspace immediately above the transitional vertebra than at any other level. Spinal stenosis and nerve root canal stenosis were more common at or near the interspace above the transitional vertebra than at any other level. Degenerative change at the articulation between the transverse process of the transitional vertebra and the pelvis was an uncommon occurrence; when seen there was no significant correlation with the reported side of pain. It is postulated that hypermobility and altered stresses become concentrated in the spine at the level immediately above a lumbar transitional vertebra. Accelerated disc and facet joint degeneration at this level may then result.

Predicting fibromyalgia, a narrative review: are we better than fools and children?

PubMed

Ablin, J N; Buskila, D

2014-09-01

Fibromyalgia syndrome (FMS) is a common and intriguing condition, manifest by chronic pain and fatigue. Although the pathogenesis of FMS is not yet completely understood, predicting the future development of FMS and chronic pain is a major challenge with great potential advantages, both from an individual as well as an epidemiological standpoint. Current knowledge indicates a genetic underpinning for FMS, and as increasing data are accumulated regarding the genetics involved, the prospect of utilizing these data for prediction becomes ever more attractive. The co-existence of FMS with multiple other functional disorders indicates that the clinical identification of such symptom constellations in a patient can alert the physician to the future development of FMS. Hypermobility syndrome is another clinical (as well as genetic) phenotype that has emerged as a risk factor for the development of FMS. Stressful events, including early life trauma, are also harbingers of the future development of FMS. Functional neuroimaging may help to elucidate the neural processes involved in central sensitization, and may ultimately also evolve into markers of predictive value. Last but not least, obesity and disturbed sleep are clinical (inter-related) features relevant for this spectrum. Future efforts will aim at integrating genetic, clinical and physiological data in the prediction of FMS and chronic pain. © 2014 European Pain Federation - EFIC®

Comparison of TVT and TVT-O in patients with stress urinary incontinence: short-term cure rates and factors influencing the outcome. A prospective randomised study.

PubMed

Karateke, Ates; Haliloglu, Berna; Cam, Cetin; Sakalli, Mustafa

2009-02-01

Recently, mid-urethral slings have been commonly used in treatment of patients with stress urinary incontinence (SUI). To investigate tension-free vaginal tape (TVT) and tension-free obturator tape (TVT-O) for surgical treatment of SUI for cure rates (primary endpoint), complications and factors influencing cure rate (secondary endpoints). One-hundred and sixty-four patients were included in the study (n = 81 for TVT, n = 83 for TVT-O). The cure rates, complications, preoperative and postoperative urodynamic evaluation, Q-tip test, the Turkish version of Incontinence Impact Questionnaire (IIQ-7) and Urogenital Distress Inventory (UDI-6) scores were recorded. At three and 12 months, the patients were evaluated regarding outcome measures. The cure rates were similar in TVT and TVT-O groups, 88.9% versus 86.7% respectively. Mean operative time was significantly shorter in TVT-O group (P = 0.001). The cure rate was significantly higher in both groups in patients with urethral hypermobility when compared with those with no hypermobility (P = 0.001). The TVT and TVT-O procedures appear to be equally effective for the treatment of SUI. Also, urethral hypermobility seems to be a factor influencing cure rate of mid-urethral slings.

The Influence of the “Straighten Your Back” Command on the Sagittal Spinal Curvatures in Children with Generalized Joint Hypermobility

PubMed Central

Pawłowska, Paulina; Kolwicz-Gańko, Aleksandra; Sitarski, Dominik

2017-01-01

Objectives. The aim of the study was to assess the change of sagittal spinal curvatures in children with generalized joint hypermobility (GJH) instructed with “straighten your back” command (SYB). Methods. The study included 56 children with GJH. The control group consisted of 193 children. Sacral slope (SS), lumbar lordosis (LL), global thoracic kyphosis (TK), lower thoracic kyphosis (LK), and upper thoracic kyphosis (UK) were assessed with Saunders inclinometer both in spontaneous positions (standing and sitting) and after the SYB. Results. Children with GJH after SYB presented the following: in standing, increase in SS and decrease in TK, LK, and UK (P < 0.01), with LL not significantly changed; in sitting: decrease in global thoracic kyphosis (35.5° (SD 20.5) versus 21.0° (SD 15.5), P < 0.001) below the standards proposed in the literature (30–40°) and flattening of its lower part (P < 0.001). The same changes were observed in the control group. Conclusions. In children with generalized joint hypermobility, the “straighten your back” command leads to excessive reduction of the global thoracic kyphosis and flattening of its lower part. Therefore, the “straighten your back” command should not be used to achieve the optimal standing and sitting positions. PMID:28116313

The Influence of the "Straighten Your Back" Command on the Sagittal Spinal Curvatures in Children with Generalized Joint Hypermobility.

PubMed

Czaprowski, Dariusz; Pawłowska, Paulina; Kolwicz-Gańko, Aleksandra; Sitarski, Dominik; Kędra, Agnieszka

2017-01-01

Objectives . The aim of the study was to assess the change of sagittal spinal curvatures in children with generalized joint hypermobility (GJH) instructed with "straighten your back" command (SYB). Methods . The study included 56 children with GJH. The control group consisted of 193 children. Sacral slope (SS), lumbar lordosis (LL), global thoracic kyphosis (TK), lower thoracic kyphosis (LK), and upper thoracic kyphosis (UK) were assessed with Saunders inclinometer both in spontaneous positions (standing and sitting) and after the SYB. Results . Children with GJH after SYB presented the following: in standing, increase in SS and decrease in TK, LK, and UK ( P < 0.01), with LL not significantly changed; in sitting: decrease in global thoracic kyphosis (35.5° (SD 20.5) versus 21.0° (SD 15.5), P < 0.001) below the standards proposed in the literature (30-40°) and flattening of its lower part ( P < 0.001). The same changes were observed in the control group. Conclusions . In children with generalized joint hypermobility, the "straighten your back" command leads to excessive reduction of the global thoracic kyphosis and flattening of its lower part. Therefore, the "straighten your back" command should not be used to achieve the optimal standing and sitting positions.

Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back

PubMed Central

Rauen, Katherine A.; Schoyer, Lisa; McCormick, Frank; Lin, Angela E.; Allanson, Judith E.; Stevenson, David A.; Gripp, Karen W.; Neri, Giovanni; Carey, John C.; Legius, Eric; Tartaglia, Marco; Schubbert, Suzanne; Roberts, Amy E.; Gelb, Bruce D.; Shannon, Kevin; Gutmann, David H.; McMahon, Martin; Guerra, Carmen; Fagin, James A.; Yu, Benjamin; Aoki, Yoko; Neel, Ben G.; Balmain, Allan; Drake, Richard R.; Nolan, Garry P.; Zenker, Martin; Bollag, Gideon; Sebolt-Leopold, Judith; Gibbs, Jackson B.; Silva, Alcino J.; Patton, E. Elizabeth; Viskochil, David H.; Kieran, Mark W.; Korf, Bruce R.; Hagerman, Randi J.; Packer, Roger J.; Melese, Teri

2012-01-01

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials. PMID:20014119

Development and validation of self-reported line drawings of the modified Beighton score for the assessment of generalised joint hypermobility.

PubMed

Cooper, Dale J; Scammell, Brigitte E; Batt, Mark E; Palmer, Debbie

2018-01-17

The impracticalities and comparative expense of carrying out a clinical assessment is an obstacle in many large epidemiological studies. The purpose of this study was to develop and validate a series of electronic self-reported line drawing instruments based on the modified Beighton scoring system for the assessment of self-reported generalised joint hypermobility. Five sets of line drawings were created to depict the 9-point Beighton score criteria. Each instrument consisted of an explanatory question whereby participants were asked to select the line drawing which best represented their joints. Fifty participants completed the self-report online instrument on two occasions, before attending a clinical assessment. A blinded expert clinical observer then assessed participants' on two occasions, using a standardised goniometry measurement protocol. Validity of the instrument was assessed by participant-observer agreement and reliability by participant repeatability and observer repeatability using unweighted Cohen's kappa (k). Validity and reliability were assessed for each item in the self-reported instrument separately, and for the sum of the total scores. An aggregate score for generalised joint hypermobility was determined based on a Beighton score of 4 or more out of 9. Observer-repeatability between the two clinical assessments demonstrated perfect agreement (k 1.00; 95% CI 1.00, 1.00). Self-reported participant-repeatability was lower but it was still excellent (k 0.91; 95% CI 0.74, 1.00). The participant-observer agreement was excellent (k 0.96; 95% CI 0.87, 1.00). Validity was excellent for the self-report instrument, with a good sensitivity of 0.87 (95% CI 0.81, 0.91) and excellent specificity of 0.99 (95% CI 0.98, 1.00). The self-reported instrument provides a valid and reliable assessment of the presence of generalised joint hypermobility and may have practical use in epidemiological studies.

Musculoskeletal manifestations of Fabry disease: A retrospective study.

PubMed

Lidove, Olivier; Zeller, Valérie; Chicheportiche, Valérie; Meyssonnier, Vanina; Sené, Thomas; Godot, Sophie; Ziza, Jean-Marc

2016-07-01

Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20-76 years) and 15 males with a mean age of 40.1 years (range, 16-61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7-71 years) in the females and 26.9 years (range, 9-51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and 8 males); acute gout (3 males with severe chronic kidney failure); and carpal tunnel syndrome (1 female and 1 male, both younger than 40 years). Mistaken diagnoses that were made at an early stage, contributing to delay the identification of Fabry disease, included rheumatic fever (2 females and 2 males), growing pains (2 males), pain with paralysis (1 female), chilblains of the lower limbs (1 female), and erythermalgia (1 female). In adulthood, the following mistaken diagnoses were made: Sjögren's syndrome and/or sicca syndrome (6 females), systemic sclerosis (1 male), dysautonomia (1 female), and familial Mediterranean fever (1 female). The diagnosis of Fabry disease is usually delayed, due to confusion with more common disorders. Musculoskeletal manifestations may constitute the presenting symptoms. Past or present pain in the extremities is typical. Osteoporosis may develop early and become severe. Together with the family history, the presence of musculoskeletal manifestations can lead to the correct diagnosis by prompting alpha-galactosidase assays in males and genetic testing in females. Fabry disease is often responsible for musculoskeletal manifestations, of which the most common are pain in the extremities and osteoporosis. These manifestations can be inaugural and lead to diagnostic wanderings. They require specific treatment strategies. Copyright © 2015 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

Mechanisms Mediating Vibration-induced Chronic Musculoskeletal Pain Analyzed in the Rat

PubMed Central

Dina, Olayinka A.; Joseph, Elizabeth K.; Levine, Jon D.; Green, Paul G.

2009-01-01

While occupational exposure to vibration is a common cause of acute and chronic musculoskeletal pain, eliminating exposure produces limited symptomatic improvement, and re-exposure precipitates rapid recurrence or exacerbation. To evaluate mechanisms underlying these pain syndromes, we have developed a model in the rat, in which exposure to vibration (60–80 Hz) induces, in skeletal muscle, both acute mechanical hyperalgesia as well as long-term changes characterized by enhanced hyperalgesia to a pro-inflammatory cytokine or re-exposure to vibration. Exposure of a hind limb to vibration produced mechanical hyperalgesia measured in the gastrocnemius muscle of the exposed hind limb, which persisted for ~2 weeks. When nociceptive thresholds had returned to baseline, exposure to a pro-inflammatory cytokine or re-exposure to vibration produced markedly prolonged hyperalgesia. The chronic prolongation of vibration- and cytokine-hyperalgesia induced by vibration was prevented by spinal intrathecal injection of oligodeoxynucleotide (ODN) antisense to protein kinase Cε, a second messenger in nociceptors implicated in the induction and maintenance of chronic pain. Vibration-induced hyperalgesia was inhibited by spinal intrathecal administration of ODN antisense to receptors for the type-1 tumor necrosis factor-α (TNFα) receptor. Finally, in TNFα-pretreated muscle, subsequent vibration-induced hyperalgesia was markedly prolonged. Perspective These studies establish a model of vibration-induced acute and chronic musculoskeletal pain, and identify the proinflammatory cytokine TNFα and the second messenger PKCε as targets against which therapies might be directed to prevent and/or treat this common and very debilitating chronic pain syndrome. PMID:19962353

Mechanisms mediating vibration-induced chronic musculoskeletal pain analyzed in the rat.

PubMed

Dina, Olayinka A; Joseph, Elizabeth K; Levine, Jon D; Green, Paul G

2010-04-01

While occupational exposure to vibration is a common cause of acute and chronic musculoskeletal pain, eliminating exposure produces limited symptomatic improvement, and reexposure precipitates rapid recurrence or exacerbation. To evaluate mechanisms underlying these pain syndromes, we have developed a model in the rat, in which exposure to vibration (60-80Hz) induces, in skeletal muscle, both acute mechanical hyperalgesia as well as long-term changes characterized by enhanced hyperalgesia to a proinflammatory cytokine or reexposure to vibration. Exposure of a hind limb to vibration-produced mechanical hyperalgesia measured in the gastrocnemius muscle of the exposed hind limb, which persisted for approximately 2 weeks. When nociceptive thresholds had returned to baseline, exposure to a proinflammatory cytokine or reexposure to vibration produced markedly prolonged hyperalgesia. The chronic prolongation of vibration- and cytokine-hyperalgesia was prevented by spinal intrathecal injection of oligodeoxynucleotide (ODN) antisense to protein kinase Cepsilon, a second messenger in nociceptors implicated in the induction and maintenance of chronic pain. Vibration-induced hyperalgesia was inhibited by spinal intrathecal administration of ODN antisense to receptors for the type-1 tumor necrosis factor-alpha (TNFalpha) receptor. Finally, in TNFalpha-pretreated muscle, subsequent vibration-induced hyperalgesia was markedly prolonged. These studies establish a model of vibration-induced acute and chronic musculoskeletal pain, and identify the proinflammatory cytokine TNFalpha and the second messenger protein kinase Cepsilon as targets against which therapies might be directed to prevent and/or treat this common and very debilitating chronic pain syndrome. Copyright 2010 American Pain Society. All rights reserved.

Gender differences in musculoskeletal injury rates: a function of symptom reporting?

PubMed

Almeida, S A; Trone, D W; Leone, D M; Shaffer, R A; Patheal, S L; Long, K

1999-12-01

This study determined gender differences in voluntary reporting of lower extremity musculoskeletal injuries among U.S, Marine Corps (USMC) recruits, and it examined the association between these differences and the higher injury rates typically found among women trainees. Subjects were 176 male and 241 female enlisted USMC recruits who were followed prospectively through 11 wk (men) and 12 wk (women) of boot camp training. Reported injuries were measured by medical record reviews. Unreported injuries were determined by a questionnaire and a medical examination administered at the completion of training. Among female recruits the most commonly reported injuries were patellofemoral syndrome (10.0% of subjects), ankle sprain (9.1%), and iliotibial band syndrome (5.8%); the most common unreported injuries were patellofemoral syndrome (2.1%), metatarsalgia (1.7%), and unspecified knee pain (1.7%). Among male recruits iliotibial band syndrome (4.0% of subjects), ankle sprain (2.8%), and Achilles tendinitis/bursitis (2.8%) were the most frequently reported injuries; shin splints (4.6%), iliotibial band syndrome (4.0%), and ankle sprain (2.8%) were the most common unreported diagnoses. Female recruits were more likely to have a reported injury than male recruits (44.0% vs 25.6%, relative risk (RR) = 1.72, 95% confidence interval (CI) 1.29-2.30), but they were less likely to have an unreported injury (11.6% vs 23.9%, RR = 0.49, 95% CI 0.31-0.75). When both reported and unreported injuries were measured, total injury rates were high for both sexes (53.5% women, 45.5% men, RR = 1.18, 95% CI 0.96-1.44), but the difference between the rates was not statistically significant. Our results indicate that the higher injury rates often found in female military trainees may be explained by gender differences in symptom reporting.

Occupational hand injuries: a current review of the prevalence and proposed prevention strategies for physical therapists and similar healthcare professionals.

PubMed

Gyer, Giles; Michael, Jimmy; Inklebarger, James

2018-03-01

Hand injury is the second most common work-related musculoskeletal injury among physical therapists (PTs) and other manual therapy professionals such as osteopaths, physiotherapists, chiropractors, acupuncturists and massage therapists. However, the nature and extent of this problem have not been fully explored yet. Therefore, the objective of this study was to review the existing literature published on the prevalence, risk factors, consequences, and prevention of hand injuries among PTs and similar healthcare professionals. The lifetime prevalence of hand injuries was about 15%-46%, and the annual prevalence was reported as 5%-30%. Thumb injuries were found to be the most prevalent of all injuries, accounting more than 50% of all hand-related problems. The most significant risk factors for job-related hand injuries were performing manual therapy techniques, repetitive workloads, treating many patients per day, continued work while injured or hurt, weakness of the thumb muscles, thumb hypermobility, and instability at the thumb joints. PTs reported modifying treatment technique, taking time off on sick leave, seeking intervention, shifting the specialty area, and decreasing patient contact hours as the major consequences of these injuries. The authors recommend that PTs should develop specific preventive strategies and put more emphasis on the use of aids and equipment to reduce the risk of an unnecessary injury. Copyright © 2018 Shanghai Changhai Hospital. Published by Elsevier B.V. All rights reserved.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

PubMed

Kaasinen, Eevi; Rahikkala, Elisa; Koivunen, Peppi; Miettinen, Sirpa; Wamelink, Mirjam M C; Aavikko, Mervi; Palin, Kimmo; Myllyharju, Johanna; Moilanen, Jukka S; Pajunen, Leila; Karhu, Auli; Aaltonen, Lauri A

2014-10-01

We identified six patients presenting with a strikingly similar clinical phenotype of profound syndromic intellectual disability of unknown etiology. All patients lived in the same village. Extensive genealogical work revealed that the healthy parents of the patients were all distantly related to a common ancestor from the 17th century, suggesting autosomal recessive inheritance. In addition to intellectual disability, the clinical features included hypotonia, strabismus, difficulty to fix the eyes to an object, planovalgus in the feet, mild contractures in elbow joints, interphalangeal joint hypermobility and coarse facial features that develop gradually during childhood. The clinical phenotype did not fit any known syndrome. Genome-wide SNP genotyping of the patients and genetic mapping revealed the longest shared homozygosity at 3p22.1-3p21.1 encompassing 11.5 Mb, with no other credible candidate loci emerging. Single point parametric linkage analysis showed logarithm of the odds score of 11 for the homozygous region, thus identifying a novel intellectual disability predisposition locus. Whole-genome sequencing of one affected individual pinpointed three genes with potentially protein damaging homozygous sequence changes within the predisposition locus: transketolase (TKT), prolyl 4-hydroxylase transmembrane (P4HTM), and ubiquitin specific peptidase 4 (USP4). The changes were found in heterozygous form with 0.3-0.7% allele frequencies in 402 whole-genome sequenced controls from the north-east of Finland. No homozygotes were found in this nor additional control data sets. Our study facilitates clinical and molecular diagnosis of patients with this novel autosomal recessive intellectual disability syndrome. However, further studies are needed to unambiguously identify the underlying genetic defect. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Musculoskeletal and overgrowth syndromes associated with cutaneous abnormalities

PubMed Central

Morris, Michael A; Ring, Christina M; Mehregan, Darius; Mulligan, Michael E

2016-01-01

There are cutaneous abnormalities that are characteristic to certain peculiar musculoskeletal conditions. The understanding of associated imaging and clinical skin findings together in this context can play an important role for the dermatologist and radiologist in establishing the correct diagnoses. The scope of dermatological manifestations of many acquired diseases of the soft tissues, muscles or bone is broad. Therefore, the intent of this article is to review those entities that are genetic and/or inherited. The goal of this review is to develop a better understanding of the cases presented. In these cases, collaboration between dermatologists and radiologists may be paramount to generating a diagnosis and monitoring at-risk patients. PMID:27537080

Nonpharmacologic and pharmacologic management of CPP crystal arthritis and BCP arthropathy and periarticular syndromes.

PubMed

Rosenthal, Ann K; Ryan, Lawrence M

2014-05-01

Calcium crystal arthritis is often unrecognized, poorly managed, and few effective therapies are available. The most common types of calcium crystals causing musculoskeletal syndromes are calcium pyrophosphate (CPP) and basic calcium phosphate (BCP). Associated syndromes have different clinical presentations and divergent management strategies. Acute CPP arthritis is treated similarly to acute gouty arthritis, whereas chronic CPP and BCP arthropathy may respond to strategies used for osteoarthritis. Calcific tendonitis is treated with a variety of interventions designed to dissolve BCP crystals. A better understanding of the causes and larger well-planned trials of current therapies will lead to improved care. Copyright © 2014 Elsevier Inc. All rights reserved.

[CLINICAL ENTITIES AND CHARACTERISTICS OF PAIN IN PATIENTS WITH RHEUMATIC DISEASES].

PubMed

Prus, Višnja; Kardum, Željka

Musculoskeletal pain is the most common symptom present in almost all rheumatic diseases. Rheumatic diseases include more than 150 clinical entities. There is no uniform classification of rheumatic diseases. In general, we distinguish inflammatory rheumatic diseases, non-inflammatory degenerative articular diseases, systemic connective tissue diseases, metabolic disorders with articular manifestations, and regional and extended pain syndromes. According to the International Association for the Study of Pain (IASP), pain is defined as an unpleasant sensation associated with tissue damage or reported simultaneously with such damage. Pain has a physical, mental, and social component. In rheumatic diseases the pain is mostly chronic and may severely impair the patient’s general condition. The defining criteria involve a period of more than 3 or 6 months, and according to some definitions more than 6 weeks. In most cases the pain is nociceptive rather than neuropathic. Musculoskeletal pain, especially chronic pain, is a global public health problem because of its prevalence, as well as the frequently associated muslculoskeletal function impairment and development of chronic pain syndrome, which can be considered as a separate clinical entity and requires a biopsychosocial treatment approach.

A review of the musculoskeletal manifestations of sarcoidosis.

PubMed

Bechman, Katie; Christidis, Dimitrios; Walsh, Sarah; Birring, Surinder S; Galloway, James

2018-05-01

Sarcoidosis is a systemic disease of unknown aetiology that is characterized by granulomatous inflammation that can develop in almost any organ system. Musculoskeletal manifestations are seen in up to one-third of patients, ranging from arthralgia through to widespread destructive bone lesions. Inflammatory tendon lesions and periarticular swelling are more common than true joint synovitis. Despite advances in our understanding of the pathophysiology of the disease, diagnosis remains challenging. Definitive diagnosis, irrespective of organ site involvement, hinges on histological confirmation of non-caseating granuloma combined with an appropriate clinical syndrome. Musculoskeletal involvement usually develops early in the disease course. Imaging modalities, particularly fluorodeoxyglucose PET, are helpful in delineating the extent of involvement and measuring disease activity. Bone involvement may only become apparent following isotope imaging. Corticosteroids remain the cornerstone of treatment. MTX is the steroid-sparing agent of choice unless there is renal involvement. Biologic therapies are sometimes used in severe disease, although the evidence base for efficacy is inconsistent.

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

PubMed

Tsukahara, M; Opitz, J M

1996-05-03

We review clinical information on 141 individuals with Dubowitz syndrome, 105 reported since 1965, and 36 previously unreported. We define the Dubowitz syndrome phenotype on the basis of clinical descriptions. The facial appearance is characteristic and present in most patients with Dubowitz syndrome. The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe growth retardation, mental retardation, microcephaly, and eczema. Overall, the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, hematological, and immune systems. Characteristic behavior patterns which have not been cited previously are present in our cases; most patients are hyperactive, shy, hate crowds, and like music, rhythm, and vibrations from music speakers, tape recorders, or transmitted through floors. Dubowitz syndrome is an autosomal recessive disorder with possibly increased frequency of parental consanguinity. Heterogeneity cannot be excluded at this time.

A comprehensive musculoskeletal and peripheral nervous system assessment of war-related bilateral upper extremity amputees.

PubMed

Allami, Mostafa; Mousavi, Batool; Masoumi, Mehdi; Modirian, Ehsan; Shojaei, Hadi; Mirsalimi, Fatemeh; Hosseini, Maryam; Pirouzi, Pirouz

2016-01-01

Upper limb amputations are one of the unpleasant war injuries that armed forces are exposed to frequently. The present study aimed to assess the musculoskeletal and peripheral nervous systems in Iraq-Iran war veterans with bilateral upper extremity amputation. The study consisted of taking a history and clinical examinations including demographic data, presence and location of pain, level of amputation, passive and active ranges of movement of the joints across the upper and lower extremities and spine, manual palpation, neurological examination, blood circulation pulses and issues related to a prosthetic limb. In this study, 103 Iranian bilateral upper extremity amputees (206 amputations) from the Iran-Iraq war were evaluated, and a detailed questionnaire was also administered. The most common level of amputation was the finger or wrist level (108, 52.4 %). Based on clinical examination, we found high frequencies of limited active and passive joint range of movement across the scapula, shoulder, elbow, wrist and metacarpophalangeal, interphalangeal and thumb joints. Based on muscle strength testing, we found varying degrees of weakness across the upper limbs. Musculoskeletal disorders included epicondylitis (65, 31.6 %), rotator cuff injury (24, 11.7 %), bicipital tendonitis (69, 33.5 %), shoulder drop (42, 20.4 %) and muscle atrophy (19, 9.2 %). Peripheral nerve disorders included carpal tunnel syndrome in 13 (6.3 %) and unilateral brachial plexus injury in 1 (1 %). Fifty-three (51.5 %) were diagnosed with facet joint syndrome at the level of the cervical spine (the most frequent site). Using a prosthesis was reported by 65 (63.1 %), both left and right sides. The back was the most common site of pain (71.8 %). The high prevalence of neuro-musculoskeletal disorders among bilateral upper extremity amputees indicates that they need regular rehabilitation care.

[Somatotype and schizophrenia. A case-control study].

PubMed

Pailhez, G; Rodríguez, A; Ariza, J; Palomo, A L; Bulbena, A

2009-01-01

To compare somatotypes of schizophrenic patients and healthy controls and to examine some associations between somatic (joint mobility, somatotype) and psychopathological (anxiety, clinical seriousness and schizophrenic types) features. Thirty four in-patients with DSM-IV diagnosis of schizophrenia assessed by SCID-I, aged 18 to 50 years, were recruited as cases. Thirty two subjects of a general non-clinical population were recruited as controls. Heath-Carter method and 5 questions to detect joint hypermobility were used to assess both somatotype and joint hypermobility. Trait anxiety (STAI) and BPRS were assessed at medical discharge. There were no statistically significant differences between mean somatotype groups (cases: 4(1/2) 5(1/2) 1(1/2); controls: 5 - 5 - 1(1/2)). Schizophrenic patients showed significantly more divergence among themselves in relationship to their own common mean [t = 1.98; gl = 64; p = 0.05] and accounted for more ectomorphic categories than the control group. Somatotype means of paranoid and disorganized types were significantly more homogeneous (with greater values of ectomorphism) than undifferentiated type [X2 = 6.61; gl = 2; p = 0.037]. There was a tendency towards positive association between anxiety - joint hypermobility and anxiety- ectomorphism, but it did not reach a statistically significant level. In spite of their limitations, the results provide suggestive data for identification of subtypes in mental illnesses that can be used as a nosologic knowledge or as potential risk markers.

Auricular Therapy for Treatment of Musculoskeletal Pain in the Setting of Military Personnel: A Randomized Trial

DTIC Science & Technology

2015-10-01

2015 with 12 subjects enrolled to date 5  Efforts for additional recruitment from Camp Pendleton Acupuncture Clinic and NMCSD Physical Therapy are...Niemtzow R, Burns SM, Fritts MJ, Crawford CC, Jonas WB. Auricular acupuncture in the treatment of acute pain syndromes: A pilot study. Mil Med. 2006 Oct

Recommendations from NASA's Operational and Research Musculoskeletal Summit

NASA Technical Reports Server (NTRS)

Jones, J. A.; Johnson-Throop, K. A.; Scheuring, R. A.; Walton, M. E.; Davis-Street, J. E.; Smaka, T.; McCulley, P. A.; Jones, J. A.; Stokes, C. R.; Parker, K. K.;

Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?

PubMed

Miglis, Mitchell G; Schultz, Brittany; Muppidi, Srikanth

2017-12-01

It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year. Patients with hEDS had twice as many outpatient visits (21 v. 10, p=0.012), were taking more prescription medications (8 vs. 5.5, p=0.030), and were more likely to see a pain physician (70% vs 25%, p=0.005). Autonomic testing demonstrated a slight reduction in heart rate variability and slightly lower blood pressures on tilt table testing in hEDS patients, however for most patients these variables remained within the range of normal. Orthostatic tachycardia on tilt table testing was greater in POTS controls (46bpm vs 39bpm, p=0.018). Abnormal QSweat responses were common in both groups (38% of POTS+hEDS and 36% of POTS controls). While autonomic testing results were not significantly different between groups, patients with POTS+hEDS took more medications and had greater markers of healthcare utilization, with chronic pain likely playing a prominent role. Copyright © 2017 Elsevier B.V. All rights reserved.

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

PubMed Central

2013-01-01

Background Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. Methods This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. Results We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. Conclusions Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS. PMID:23587214

Exercise in children with joint hypermobility syndrome and knee pain: a randomised controlled trial comparing exercise into hypermobile versus neutral knee extension

PubMed Central

2013-01-01

Background Knee pain in children with Joint Hypermobility Syndrome (JHS) is traditionally managed with exercise, however the supporting evidence for this is scarce. No trial has previously examined whether exercising to neutral or into the hypermobile range affects outcomes. This study aimed to (i) determine if a physiotherapist-prescribed exercise programme focused on knee joint strength and control is effective in reducing knee pain in children with JHS compared to no treatment, and (ii) whether the range in which these exercises are performed affects outcomes. Methods A prospective, parallel-group, randomised controlled trial conducted in a tertiary hospital in Sydney, Australia compared an 8 week exercise programme performed into either the full hypermobile range or only to neutral knee extension, following a minimum 2 week baseline period without treatment. Randomisation was computer-generated, with allocation concealed by sequentially numbered opaque sealed envelopes. Knee pain was the primary outcome. Quality of life, thigh muscle strength, and function were also measured at (i) initial assessment, (ii) following the baseline period and (iii) post treatment. Assessors were blinded to the participants’ treatment allocation and participants blinded to the difference in the treatments. Results Children with JHS and knee pain (n=26) aged 7-16 years were randomly assigned to the hypermobile (n=12) or neutral (n=14) treatment group. Significant improvements in child-reported maximal knee pain were found following treatment, regardless of group allocation with a mean 14.5 mm reduction on the visual analogue scale (95% CI 5.2 – 23.8 mm, p=0.003). Significant differences between treatment groups were noted for parent-reported overall psychosocial health (p=0.009), specifically self-esteem (p=0.034), mental health (p=0.001) and behaviour (p=0.019), in favour of exercising into the hypermobile range (n=11) compared to neutral only (n=14). Conversely, parent-reported overall physical health significantly favoured exercising only to neutral (p=0.037). No other differences were found between groups and no adverse events occurred. Conclusions Parents perceive improved child psychosocial health when children exercise into the hypermobile range, while exercising to neutral only is perceived to favour the child’s physical health. A physiotherapist prescribed, supervised, individualised and progressed exercise programme effectively reduces knee pain in children with JHS. Trial registration Australia & New Zealand Clinical Trials Registry; ACTRN12606000109505. PMID:23941143

Supplementation with Guanidinoacetic Acid in Women with Chronic Fatigue Syndrome.

PubMed

Ostojic, Sergej M; Stojanovic, Marko; Drid, Patrik; Hoffman, Jay R; Sekulic, Damir; Zenic, Natasa

2016-01-29

A variety of dietary interventions has been used in the management of chronic fatigue syndrome (CFS), yet no therapeutic modality has demonstrated conclusive positive results in terms of effectiveness. The main aim of this study was to evaluate the effects of orally administered guanidinoacetic acid (GAA) on multidimensional fatigue inventory (MFI), musculoskeletal soreness, health-related quality of life, exercise performance, screening laboratory studies, and the occurrence of adverse events in women with CFS. Twenty-one women (age 39.3 ± 8.8 years, weight 62.8 ± 8.5 kg, height 169.5 ± 5.8 cm) who fulfilled the 1994 Centers for Disease Control and Prevention criteria for CFS were randomized in a double-blind, cross-over design, from 1 September 2014 through 31 May 2015, to receive either GAA (2.4 grams per day) or placebo (cellulose) by oral administration for three months, with a two-month wash-out period. No effects of intervention were found for the primary efficacy outcome (MFI score for general fatigue), and musculoskeletal pain at rest and during activity. After three months of intervention, participants receiving GAA significantly increased muscular creatine levels compared with the placebo group (36.3% vs. 2.4%; p < 0.01). Furthermore, changes from baseline in muscular strength and aerobic power were significantly greater in the GAA group compared with placebo (p < 0.05). Results from this study indicated that supplemental GAA can positively affect creatine metabolism and work capacity in women with CFS, yet GAA had no effect on main clinical outcomes, such as general fatigue and musculoskeletal soreness.

Clinical and laboratory characteristics of 19 patients with Churg-Strauss syndrome from a single South Australian centre.

PubMed

Whyte, A F; Smith, W B; Sinkar, S N; Kette, F E; Hissaria, P

2013-07-01

Churg-Strauss syndrome (CSS) is a rare, idiopathic systemic vasculitis. There is emerging evidence of an association between the presence or absence of antineutrophil cytoplasmic antibodies (ANCA) and clinical phenotype. Thromboembolism is an increasingly recognised complication of the disease. Given the paucity of Australian data, the aim of this study was to examine the clinical and laboratory features of CSS in a single Australian centre. We performed a retrospective review of all patients who fulfilled the American College of Rheumatology classification criteria for CSS managed at the Department of Immunology, Royal Adelaide Hospital between 2002 and 2008. Nineteen patients were included. All patients had asthma and most had upper airway involvement. Peripheral nerve, musculoskeletal, gastrointestinal and cutaneous involvement was common. Renal and cardiac involvement was uncommon in this series. Histological confirmation was obtained in 15 patients (78.9%). Ten patients (52.6%) were ANCA+, and these were more likely to have musculoskeletal involvement, such as arthralgia or myalgia (odds ratio 57, P = 0.005). Thrombosis was a feature at diagnosis in six patients (31.6%); two of these recurred with relapse. Sixteen patients (84.2%) were followed up; five died, and mean survival was 8.9 years. This is the first Australian study to focus on CSS. Our results demonstrate similar presentation and prognosis of CSS to previous descriptions; however, we noted that musculoskeletal involvement was more common in ANCA+ patients. In our series, thrombosis was a significant complication and we suggest that thromboprophylaxis may be warranted. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

Functional incapacity related to rotator cuff syndrome in workers. Is it influenced by social characteristics and medical management?

PubMed

Champagne, Romain; Bodin, Julie; Fouquet, Natacha; Roquelaure, Yves; Petit, Audrey

2017-12-04

Survey. Rotator cuff syndrome (RCS) is one of the most common musculoskeletal disorders reported in workers. The functional incapacity related to RCS may vary according to the sociodemographic context and to the medical management. The purpose of this is to analyze the RCS-related functional incapacity assessed by the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaires in workers according to their sociodemographic characteristics and the use of care. A cross-sectional study was carried out on a French sample of workers diagnosed with RCS. The DASH and DASH-work scores were studied according to the sociodemographic factors, musculoskeletal symptoms, and RCS medical management during the preceding 12 months. Two hundred seven workers who suffered from RCS filled out the questionnaire of which 80% were still working. The DASH score was significantly higher in women (24.0 vs 17.4; P < .01; effect size (d) = 0.39), in patients over the age of 50 years (23.6 vs 11.3; P < .005) and in case of another upper limb musculoskeletal disorder (P < .0001; d ≥ 0.4). The DASH and DASH-work scores were significantly higher in case of use of care for RCS (P < .005; d > 0.6). The demographic factors and the RCS medical management influenced the overall incapacity assessed by the DASH questionnaire. Work incapacity was more especially related to the use of care for RCS. The sociodemographic and medical parameters added to other established predictors could help guide clinicians in managing their patients. Copyright © 2017 Hanley & Belfus. Published by Elsevier Inc. All rights reserved.

The value of musculoskeletal ultrasound in geriatric care and rehabilitation.

PubMed

Can, Büşra; Kara, Murat; Kara, Özgür; Ülger, Zekeriya; Frontera, Walter R; Özçakar, Levent

2017-12-01

The WHO reports that one of the major chronic conditions affecting the elderly worldwide is musculoskeletal disorders that are associated with long-term pain and disability. Considering the healthcare needs of the elderly (i.e. comprehensive, accessible, efficient) and the advantages of ultrasound (US) use (patient-friendly, convenient, cost-effective, and does not require exposure to radiation or magnetic fields), there seems to be a 'gap' in the actual clinical practice. In this paper, we aimed to highlight the potential value of US imaging in the management of the elderly with a wide spectrum of musculoskeletal conditions (degenerative/rheumatic joint diseases, falls/trauma, nursing care, peripheral nerve problems, sarcopenia, and interventions). In this respect, electronic databases (ISI Web of Science, PubMed, Elsevier Science Direct) and reference lists of relevant articles/reviews were screened by two blinded investigators for each topic. The main medical subject heading terms selected to capture the most relevant papers on the topics in accordance with the literature were knee/hip/hand osteoarthritis, prevalence, rotator cuff injury, lateral epicondylitis, tendinopathy, rheumatoid arthritis, Sjogren's syndrome, polymyalgia rheumatica, crystal arthropathies, gout, pseudogout, carpal tunnel syndrome, fall, fractures, hematoma, pressure ulcer, ultrasonography, interventional, sarcopenia, body composition, rehabilitation, frail elderly, and aged. The search was limited to peer-reviewed full-text English journals starting from the earliest papers to May 2017. A study population (or part of the study population) of adults older than 65 years (if possible) was included. We especially underscore the use of US by clinicians as an extension of their physical examination or as a practical guide for an immediate intervention.

Fibromyalgia syndrome: considerations for dental hygienists.

PubMed

Walters, Amber; Tolle, Susan L; McCombs, Gayle M

2015-04-01

Fibromyalgia syndrome (FMS) is a neurosensory disorder characterized by widespread musculoskeletal pain. Typically persistent fatigue, depression, limb stiffness, non-refreshing sleep and cognitive deficiencies are also experienced. Oral symptoms and pain are common, requiring adaptations in patient management strategies and treatment interventions. Appropriate dental hygiene care of patients suffering with this disorder is contingent upon an understanding of disease epidemiology, pathophysiology, clinical characteristics, oral signs and symptoms, as well as treatment approaches. With this information dental hygienists will be better prepared to provide appropriate and effective treatment to patients with FMS. Copyright © 2015 The American Dental Hygienists’ Association.

The feasibility of a randomised controlled trial of physiotherapy for adults with joint hypermobility syndrome.

PubMed

Palmer, Shea; Cramp, Fiona; Clark, Emma; Lewis, Rachel; Brookes, Sara; Hollingworth, William; Welton, Nicky; Thom, Howard; Terry, Rohini; Rimes, Katharine A; Horwood, Jeremy

2016-06-01

Joint hypermobility syndrome (JHS) is a heritable disorder associated with laxity and pain in multiple joints. Physiotherapy is the mainstay of treatment, but there is little research investigating its clinical effectiveness. To develop a comprehensive physiotherapy intervention for adults with JHS; to pilot the intervention; and to conduct a pilot randomised controlled trial (RCT) to determine the feasibility of conducting a future definitive RCT. Patients' and health professionals' perspectives on physiotherapy for JHS were explored in focus groups (stage 1). A working group of patient research partners, clinicians and researchers used this information to develop the physiotherapy intervention. This was piloted and refined on the basis of patients' and physiotherapists' feedback (stage 2). A parallel two-arm pilot RCT compared 'advice' with 'advice and physiotherapy' (stage 3). Random allocation was via an automated randomisation service, devised specifically for the study. Owing to the nature of the interventions, it was not possible to blind clinicians or patients to treatment allocation. Stage 1 - focus groups were conducted in four UK locations. Stages 2 and 3 - piloting of the intervention and the pilot RCT were conducted in two UK secondary care NHS trusts. Stage 1 - patient focus group participants (n = 25, three men) were aged > 18 years, had a JHS diagnosis and had received physiotherapy within the preceding 12 months. The health professional focus group participants (n = 16, three men; 14 physiotherapists, two podiatrists) had experience of managing JHS. Stage 2 - patient participants (n = 8) were aged > 18 years, had a JHS diagnosis and no other musculoskeletal conditions causing pain. Stage 3 - patient participants for the pilot RCT (n = 29) were as for stage 2 but the lower age limit was 16 years. For the pilot RCT (stage 3) the advice intervention was a one-off session, supplemented by advice booklets. All participants could ask questions specific to their circumstances and receive tailored advice. Participants were randomly allocated to 'advice' (no further advice or physiotherapy) or 'advice and physiotherapy' (an additional six 30-minute sessions over 4 months). The physiotherapy intervention was supported by a patient handbook and was delivered on a one-to-one patient-therapist basis. It aimed to increase patients' physical activity through developing knowledge, understanding and skills to better manage their condition. Data from patient and health professional focus groups formed the main outcome from stage 1. Patient and physiotherapist interview data also formed a major component of stages 2 and 3. The primary outcome in stage 3 related to the feasibility of a future definitive RCT [number of referrals, recruitment and retention rates, and an estimate of the value of information (VOI) of a future RCT]. Secondary outcomes included clinical measures (physical function, pain, global status, self-reported joint count, quality of life, exercise self-efficacy and adverse events) and resource use (to estimate cost-effectiveness). Outcomes were recorded at baseline, 4 months and 7 months. Stage 1 - JHS is complex and unpredictable. Physiotherapists should take a long-term holistic approach rather than treating acutely painful joints in isolation. Stage 2 - a user-informed physiotherapy intervention was developed and evaluated positively. Stage 3 - recruitment to the pilot RCT was challenging, primarily because of a perceived lack of equipoise between advice and physiotherapy. The qualitative evaluation provided very clear guidance to inform a future RCT, including enhancement of the advice intervention. Some patients reported that the advice intervention was useful and the physiotherapy intervention was again evaluated very positively. The rate of return of questionnaires was low in the advice group but reasonable in the physiotherapy group. The physiotherapy intervention showed evidence of promise in terms of primary and secondary clinical outcomes. The advice arm experienced more adverse events. The VOI analysis indicated the potential for high value from a future RCT. Such a trial should form the basis of future research efforts. A future definitive RCT of physiotherapy for JHS seems feasible, although the advice intervention should be made more robust to address perceived equipoise and subsequent attrition. Current Controlled Trials ISRCTN29874209. This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 20, No. 47. See the NIHR Journals Library website for further project information.

Outcome of Hip Impingement Surgery: Does Generalized Joint Hypermobility Matter?

PubMed

Naal, Florian D; Müller, Aileen; Varghese, Viju D; Wellauer, Vanessa; Impellizzeri, Franco M; Leunig, Michael

2017-05-01

Generalized joint hypermobility (JH) might negatively influence the results of surgical femoroacetabular impingement (FAI) treatment, as JH has been linked to musculoskeletal pain and injury incidence in athletes. JH may also be associated with worse outcomes of FAI surgery in thin females. To (1) determine the results of FAI surgery at a minimum 2-year follow-up by means of patient-reported outcome measures (PROMs) and failure rates, (2) assess the prevalence of JH in FAI patients and its effect on outcomes, and (3) identify other risk factors associated with treatment failure. Cohort study; Level of evidence, 3. We included 232 consecutive patients (118 females; mean age, 36 years) with 244 hips surgically treated for symptomatic FAI between 2010 and 2012. All patients completed different PROMs preoperatively and at a mean follow-up of 3.7 years. Satisfaction questions were used to define subjective failure (answering any of the 2 subjective questions with dissatisfied/ very dissatisfied and/or didn't help/ made things worse). Conversion to total hip replacement (THR) was defined as objective failure. JH was assessed using the Beighton score. All PROM values significantly ( P < .001) improved from preoperative measurement to follow-up (Oxford Hip Score: 33.8 to 42.4; University of California at Los Angeles Activity Scale: 6.3 to 7.3; EuroQol-5 Dimension Index: 0.58 to 0.80). Overall, 34% of patients scored ≥4 on the Beighton score, and 18% scored ≥6, indicating generalized JH. Eleven hips (4.7%) objectively failed and were converted to THR. Twenty-four patients (10.3%) were considered as subjective failures. No predictive risk factors were identified for subjective failure. Tönnis grade significantly ( P < .001) predicted objective failure (odds ratio, 13; 95% CI, 4-45). There was a weak inverse association ( r = -0.16 to -0.30) between Beighton scores and preoperative PROM values. There were no significant associations between Beighton scores and postoperative PROM values or subjective failure rates, but patients who objectively failed had lower Beighton scores than did nonfailures (1.6 vs 2.6; P = .049). FAI surgery yielded favorable outcomes at short- to midterm follow-up. JH as assessed by the Beighton score was not consistently associated with subjective and objective results. Joint degeneration was the most important risk factor for conversion to THR. Although statistical significance was not reached, female patients with no joint degeneration, only mild FAI deformity, and higher Oxford scores at the time of surgery seemed to be at increased risk for subjective dissatisfaction.

Klippel-Feil syndrome associated with atrial septal defect.

PubMed

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

2013-01-01

Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

What are the main running-related musculoskeletal injuries? A Systematic Review.

PubMed

Lopes, Alexandre Dias; Hespanhol Júnior, Luiz Carlos; Yeung, Simon S; Costa, Leonardo Oliveira Pena

2012-10-01

Musculoskeletal injuries occur frequently in runners and despite many studies about running injuries conducted over the past decades it is not clear in the literature what are the main running-related musculoskeletal injuries (RRMIs). The aim of this study is to systematically review studies on the incidence and prevalence of the main specific RRMIs. An electronic database search was conducted using EMBASE (1947 to October 2011), MEDLINE (1966 to October 2011), SPORTDiscus(1975 to October 2011), the Latin American and Caribbean Center on Health Sciences Information (LILACS) [1982 to October 2011] and the Scientific Electronic Library Online (SciELO) [1998 to October 2011] with no limits of date or language of publication. Articles that described the incidence or prevalence rates of RRMIs were considered eligible. Studies that reported only the type of injury, anatomical region or incomplete data that precluded interpretation of the incidence or prevalence rates of RRMIs were excluded. We extracted data regarding bibliometric characteristics, study design, description of the population of runners, RRMI definition, how the data of RRMIs were collected and the name of each RRMI with their rates of incidence or prevalence. Separate analysis for ultra-marathoners was performed. Among 2924 potentially eligible titles, eight studies (pooled n = 3500 runners) were considered eligible for the review. In general, the articles had moderate risk of bias and only one fulfilled less than half of the quality criteria established. A total of 28 RRMIs were found and the main general RRMIs were medial tibial stress syndrome (incidence ranging from 13.6% to 20.0%; prevalence of 9.5%), Achilles tendinopathy (incidence ranging from 9.1% to 10.9%; prevalence ranging from 6.2% to 9.5%) and plantar fasciitis (incidence ranging from 4.5% to 10.0%; prevalence ranging from 5.2% to 17.5%). The main ultra-marathon RRMIs were Achilles tendinopathy (prevalence ranging from 2.0% to 18.5%) and patellofemoral syndrome (prevalence ranging from 7.4% to 15.6%). This systematic review provides evidence that medial tibia stress syndrome, Achilles tendinopathy and plantar fasciitis were the main general RRMIs, while Achilles tendinopathy and patellofemoral syndrome were the most common RRMIs for runners who participated in ultra-marathon races.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

PubMed

Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

2017-12-01

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Musculoskeletal involvement in sarcoidosis*, **

PubMed Central

Nessrine, Akasbi; Zahra, Abourazzak Fatima; Taoufik, Harzy

2014-01-01

Sarcoidosis is a multisystem inflammatory disorder of unknown cause. It most commonly affects the pulmonary system but can also affect the musculoskeletal system, albeit less frequently. In patients with sarcoidosis, rheumatic involvement is polymorphic. It can be the presenting symptom of the disease or can appear during its progression. Articular involvement is dominated by nonspecific arthralgia, polyarthritis, and Löfgren's syndrome, which is defined as the presence of lung adenopathy, arthralgia (or arthritis), and erythema nodosum. Skeletal manifestations, especially dactylitis, appear mainly as complications of chronic, multiorgan sarcoidosis. Muscle involvement in sarcoidosis is rare and usually asymptomatic. The diagnosis of rheumatic sarcoidosis is based on X-ray findings and magnetic resonance imaging findings, although the definitive diagnosis is made by anatomopathological study of biopsy samples. Musculoskeletal involvement in sarcoidosis is generally relieved with nonsteroidal anti-inflammatory drugs or corticosteroids. In corticosteroid-resistant or -dependent forms of the disease, immunosuppressive therapy, such as treatment with methotrexate or anti-TNF-α, is employed. The aim of this review was to present an overview of the various types of osteoarticular and muscle involvement in sarcoidosis, focusing on their diagnosis and management. PMID:24831403

[Guillain-Barré syndrome as differential diagnosis of intervertebral disk-induced nerve root compression].

PubMed

Perlick, L; Möller, G; Wallny, T; Schmitt, O

1999-01-01

Diagnosis of Guillian-Barré Syndrome usually is not difficult, but diagnostic failure occurs for the variable initial presentation. Diagnosis is based on physical examination showing loss of motor strength in more than one limb and loss of deep tendon reflexes. Ventilatory assistance, pharmacologic maintenance of cardiovascular homeostasis, corticosteroids, IgG and plasma exchange are the dominant therapeutic measures. This article reports on a case of a 59-year old surgeon suffering from degenerative disc disease in the lumbar spine. The patient developed a severe course of the Guillian-Barré Syndrome with persisting motor weakness of the legs. If the primary problem at presentation is limb and back pain the pathology appears to be in the musculoskeletal rather than in neurological system. The awareness of this presentation of Guillian-Barré-Syndrome will eliminate delay in diagnosis.

Hospital contacts for injuries and musculoskeletal diseases among seamen and fishermen: a population-based cohort study.

PubMed

Kaerlev, Linda; Jensen, Anker; Nielsen, Per Sabro; Olsen, Jørn; Hannerz, Harald; Tüchsen, Finn

2008-01-23

We studied musculoskeletal diseases (MSD) and injuries among fishermen and seamen with focus on low back disorders, carpal tunnel syndrome (CTS), rotator cuff syndrome and arthrosis. Cohorts of all male Danish seamen (officers and non-officers) and fishermen employed 1994 and 1999 with at least six months employment history were linked to the Occupational Hospitalisation Register. We calculated standardised incidence ratios (SIR) for the two time periods, using rates for the entire Danish workforce as a reference. Among fishermen, we found high SIRs for knee arthrosis, thoraco-lumbar disc disorders, injuries and statistically significant SIRs above 200 were seen for both rotator cuff syndrome and CTS. The SIR was augmented for injuries and reduced for hip arthrosis between the two time periods. The SIRs for injuries and CTS were high for non-officers. A sub-analysis revealed that the highest risk for CTS was found among male non-officers working as deck crew, SIR 233 (95% CI: 166-317) based on 40 cases. Among officers, the SIRs for injuries and MSDs were low. The number of employed Danish fishermen declined with 25% 1994-1999 to 3470. Short-term employments were common. None of the SIRs increased with increasing length of employment. Both fishermen and non-officers have high SIRs for injuries and fishermen also for MSD. Only the SIR for injuries among fishermen was augmented between 1994 and 1999. Our findings suggest an association between the incidence of rotator cuff syndrome and CTS and work within fishery. Long-term cumulative effects of employment were not shown for any of the disease outcomes. Other conditions may play a role.

Operational and Research Musculoskeletal Summit: Summit Recommendations

NASA Technical Reports Server (NTRS)

Scheuring, Richard A.; Walton, Marlei; Davis-Street, Janis; Smaka, Todd J.; Griffin, DeVon

2006-01-01

The Medical Informatics and Health Care Systems group in the Office of Space Medicine at NASA Johnson Space Center (JSC) has been tasked by NASA with improving overall medical care on the International Space Station (ISS) and providing insights for medical care for future exploration missions. To accomplish this task, a three day Operational and Research Musculoskeletal Summit was held on August 23-25th, 2005 at Space Center Houston. The purpose of the summit was to review NASA#s a) current strategy for preflight health maintenance and injury screening, b) current treatment methods in-flight, and c) risk mitigation strategy for musculoskeletal injuries or syndromes that could occur or impact the mission. Additionally, summit participants provided a list of research topics NASA should consider to mitigate risks to astronaut health. Prior to the summit, participants participated in a web-based pre-summit forum to review the NASA Space Medical Conditions List (SMCL) of musculoskeletal conditions that may occur on ISS as well as the resources currently available to treat them. Data from the participants were compiled and integrated with the summit proceedings. Summit participants included experts from the extramural physician and researcher communities, and representatives from NASA Headquarters, the astronaut corps, JSC Medical Operations and Human Adaptations and Countermeasures Offices, Glenn Research Center Human Research Office, and the Astronaut Strength, Conditioning, and Reconditioning (ASCR) group. The recommendations in this document are based on a summary of summit discussions and the best possible evidence-based recommendations for musculoskeletal care for astronauts while on the ISS, and include recommendati ons for exploration class missions.

Computer and visual display terminals (VDT) vision syndrome (CVDTS).

PubMed

Parihar, J K S; Jain, Vaibhav Kumar; Chaturvedi, Piyush; Kaushik, Jaya; Jain, Gunjan; Parihar, Ashwini K S

2016-07-01

Computer and visual display terminals have become an essential part of modern lifestyle. The use of these devices has made our life simple in household work as well as in offices. However the prolonged use of these devices is not without any complication. Computer and visual display terminals syndrome is a constellation of symptoms ocular as well as extraocular associated with prolonged use of visual display terminals. This syndrome is gaining importance in this modern era because of the widespread use of technologies in day-to-day life. It is associated with asthenopic symptoms, visual blurring, dry eyes, musculoskeletal symptoms such as neck pain, back pain, shoulder pain, carpal tunnel syndrome, psychosocial factors, venous thromboembolism, shoulder tendonitis, and elbow epicondylitis. Proper identification of symptoms and causative factors are necessary for the accurate diagnosis and management. This article focuses on the various aspects of the computer vision display terminals syndrome described in the previous literature. Further research is needed for the better understanding of the complex pathophysiology and management.

Ulnar nerve entrapment in a French horn player.

PubMed

Hoppmann, R A

1997-10-01

Nerve entrapment syndromes are frequent among musicians. Because of the demands on the musculoskeletal system and the great agility needed to per-form, musicians often present with vague complaints early in the course of entrapment, which makes the diagnosis a challenge for the clinician. Presented here is such a case of ulnar nerve entrapment at the left elbow of a French horn player. This case points out some of the difficulties in establishing a diagnosis of nerve entrapment in musicians. It also supports the theory that prolonged elbow flexion and repetitive finger movement contribute to the development of ulnar entrapment at the elbow. Although surgery is not required for most of the musculoskeletal problems of musicians, release of an entrapped nerve refractory to conservative therapy may be career-saving for the musician.

Risk factors for musculoskeletal injury in elite pre-professional modern dancers: A prospective cohort prognostic study.

PubMed

Bronner, Shaw; Bauer, Naomi G

2018-05-01

To examine risk factors for injury in pre-professional modern dancers. With prospectively designed screening and injury surveillance, we evaluated four risk factors as categorical predictors of injury: i) hypermobility; ii) dance technique motor-control; iii) muscle tightness; iv) previous injury. Screening and injury data of 180 students enrolled in a university modern dance program were reviewed over 4-yrs of training. Dancers were divided into 3-groups based on predictor scores. Dance exposure was based on hours of technique classes/wk. Negative binomial log-linear analyses were conducted with the four predictors, p < 0.05. Dancers with low and high Beighton scores were 1.43 and 1.22 times more likely to sustain injury than dancers with mid-range scores (p ≤ 0.03). Dancers with better technique (low or medium scores) were 0.86 and 0.63 times less likely to sustain injury (p = 0.013 and p < 0.001) compared to those with poor technique. Dancers with one or 2-4 tight muscles were 2.7 and 4.0 times more likely to sustain injury (p ≤ 0.046). Dancers who sustained 2-4 injuries in the previous year were 1.38 times more likely to sustain subsequent injury (p < 0.001). This contributes new information on the value of preseason screening. Dancers with these risk factors may benefit from prevention programs. Copyright © 2018 Elsevier Ltd. All rights reserved.

Altered knee joint neuromuscular control during landing from a jump in 10-15 year old children with Generalised Joint Hypermobility. A substudy of the CHAMPS-study Denmark.

PubMed

Junge, Tina; Wedderkopp, Niels; Thorlund, Jonas Bloch; Søgaard, Karen; Juul-Kristensen, Birgit

2015-06-01

Generalised Joint Hypermobility (GJH) is considered an intrinsic risk factor for knee injuries. Knee neuromuscular control during landing may be altered in GJH due to reduced passive stability. The aim was to identify differences in knee neuromuscular control during landing of the Single-Leg-Hop-for-Distance test (SLHD) in 25 children with GJH compared to 29 children without GJH (controls), all 10-15years. Inclusion criteria for GJH: Beighton score⩾5/9 and minimum one hypermobile knee. EMG was recorded from the quadriceps, the hamstring and the calf muscles, presented relative to Maximum Voluntary Electrical activity (MVE). There was no difference in jump length between groups. Before landing, GJH had 33% lower Semitendinosus, but 32% higher Gastrocnemius Medialis activity and 39% higher co contraction of the lateral knee muscles, than controls. After landing, GJH had 36% lower Semitendinosus activity than controls, all significant findings. Although the groups performed equally in SLHD, GJH had a Gastrocnemius Medialis dominated neuromuscular strategy before landing, plausibly caused by reduced Semitendinosus activity. Reduced Semitendinosus activity was seen in GJH after landing, but with no compensatory Gastrocnemius Medialis activity. Reduced pre and post-activation of the Semitendinosus may present a risk factor for traumatic knee injuries as ACL ruptures in GJH with knee hypermobility. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Treatment of neck and shoulder pain in whip-lash syndrome patients with intracutaneous sterile water injections.

PubMed

Byrn, C; Borenstein, P; Linder, L E

1991-01-01

Ten whip-lash syndrome patients treated with intracutaneous triggerpoint injections with sterile water for pain relief were followed for 2 months. Pain intensity was evaluated with the Visual Analogue Scale (VAS). Eight patients became free from pain (VAS 0) and two patients improved to VAS 2 immediately after the treatment. Nine patients remained free from pain, three of them after one treatment, while six patients needed 2-4 treatments. One patient responded only a few hours after each of three treatments. Remarkably, with the relief of pain mobility was normalised in all patients. The method is suggested to be a first choice in the treatment of not only whip-lash patients but also for most acute and chronic musculo-skeletal triggerpoint pain syndromes.

[Locomotive syndrome and frailty. Lumbar canal stenosis as an underlying disorder in the locomotive syndrome].

PubMed

Sakai, Yoshihito

2012-04-01

Lumbar canal stenosis most commonly affects the elderly population by entrapment of the cauda equine roots surrounding the spinal canal often associated with pain in the back and lower extremities, difficulty ambulating. The locomotive syndrome refers to high-risk conditions under requiring care services, and lumbar canal stenosis is an important underlying disease. As one of the key capacities of frailty identified muscluloskeletal function, the locomotive syndrome is considered to musculoskeletal frail syndrome. Surgical treatment should be recommended to take the pressure off the nerves in the lumbar spine when the conservative treatments failed, and several studies revealed that the surgery generally resulted in a preferable outcome in the lumbar canal stenosis patients. Among lumbar canal stenosis patients treated with surgery, locomotive syndrome was contained 44% and many of which were seen in thin females. The patients with locomotive syndrome had lower muscle volume both in the extremities and the trunk than those without locomotive syndrome, and surgical results were poorer in the activity of daily life whereas the pain relief was adequately obtained. Treatment of the lumbar canal stenosis should be attended to locomotive frailty, and muscle strengthening training should be incorporated into pre and postoperative therapy.

Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.

PubMed

Sprouse, Courtney; Tosi, Laura; Stapleton, Emily; Gropman, Andrea L; Mitchell, Francie L; Peret, Rick; Sadeghin, Teresa; Haskell, Kathryn; Samango-Sprouse, Carole A

2013-02-15

49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000-100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family support group meeting. Children were examined in a multidisciplinary clinic by a pediatric neurologist and geneticist, a pediatric orthopedist, a neurodevelopmentalist, and two physical therapists. The patient data were collected from this clinic from 2004 to 2012. All patients were required to have karyotypes that confirmed the presence of XXXXY. There was a high prevalence of musculoskeletal disorders, particularly hypotonia (34 patients [85%]), radioulnar synostosis (30 [75%]), pes planus (26 [65%]), asymmetric hip rotation (27 [67.5%]), and clinodactyly (24 [60%]). Other, less common lower-extremity disorders, included, 5 patients (12.5%) with unilateral club foot, 5 boys (12.5%) with pes cavus, 10 patients (25%) genu valgum and 2 children with genu varus (5%). To our knowledge, this is the first large cohort of boys with 49, XXXXY that focuses on musculoskeletal disorders. There was an increased incidence of hypotonia, clubfoot, avascular necrosis of the femoral head, radioulnar synostosis, and pes planus compared to the normative population. Boys with 49, XXXXY would benefit from multidisciplinary evaluations, particularly from pediatric orthopedists, physical therapists, neurologists, and geneticists for appropriate medical care. Copyright © 2013 Wiley Periodicals, Inc.

Differential diagnosis and management of Behçet syndrome.

PubMed

Ambrose, Nicola L; Haskard, Dorian O

2013-02-01

Behçet syndrome (also known as Behçet disease) is a rare condition that is associated with considerable morbidity. Cases of Behçet syndrome have been reported worldwide, but the highest prevalence occurs in countries that border the ancient Silk Route, such as Turkey and Iran. Although oral ulceration, genital ulceration and eye disease are the classic triad of manifestations, the cardiovascular, gastrointestinal, musculoskeletal and central nervous systems can also be affected. The syndrome is chronic and relapsing with some patients having benign episodes whereas others have more serious complications, including blindness or the rupture of a pulmonary arterial aneurysm. Diagnosing Behçet syndrome, particularly outside of endemic regions, often incurs a considerable delay owing to the rarity of this condition. Furthermore, a paucity exists of data from randomized controlled trials on the optimal therapeutic approaches to use in patients, as well as a lack of informative laboratory surrogate markers to monitor disease progression. This Review discusses the issues surrounding the diagnosis and differential diagnosis of Behçet syndrome and presents the current approaches to managing patients with this complex group of disorders.

Prevention, clinical, and pathophysiological research on vibration syndrome.

PubMed

Yamada, S; Sakakibara, H; Harada, N; Matsumoto, T

1993-11-01

In the 1950s, introduction of portable power tools into the production process of many industries began on a large scale around the world and resulted in many cases of occupational vibration syndrome after the 1960s. There was an urgent need to undertake preventive steps, medical assessment and therapy throughout the world. At the end of 1964, our investigation began in Japanese national forests, and then in mining and stone quarries. Our research and efforts resulted in a comprehensive system for prevention of vibration syndrome in the Japanese national forest industry. It has presented a good model of prevention for other industries in Japan. Clinical and pathophysiological research on vibration syndrome in the 1960s and 1970s clarified disturbances of the peripheral circulatory, nervous, and musculoskeletal systems. From the mid-1970s, neurophysiological, neurochemical, and clinical research on vibration syndrome in relation to the autonomic nervous system developed. Our studies contributed to the advancement of research in this field. More in-depth study is needed to determine the role of the autonomic nervous system in vibration syndrome.

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

PubMed

Ozcan, Gozde; Balta, Burhan; Sekerci, Ahmet Ercan; Etoz, Osman A; Martinuzzi, Claudia; Kara, Ozlem; Pastorino, Lorenza; Kocoglu, Fatma; Ulker, Omer; Erdogan, Murat

2016-01-01

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

Cryopyrin-associated periodic syndrome.

PubMed

Posch, Christian; Kaulfersch, Wilhelm; Rappersberger, Klemens

2014-01-01

Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, we present the case of a 9-month-old boy with recurrent nonpruritic rashes and episodes of fever. The difficulties of early diagnosis due to initially mild clinical symptoms and the dramatic response to anti-IL-1 therapy after diagnosis emphasize the practical relevance of considering CAPS as a differential diagnosis in these patients. © 2012 Wiley Periodicals, Inc.

Hand-arm vibration syndrome: A rarely seen diagnosis.

PubMed

Campbell, Rebecca A; Janko, Matthew R; Hacker, Robert I

2017-06-01

Hand-arm vibration syndrome (HAVS) is a collection of sensory, vascular, and musculoskeletal symptoms caused by repetitive trauma from vibration. This case report demonstrates how to diagnose HAVS on the basis of history, physical examination, and vascular imaging and its treatment options. A 41-year-old man who regularly used vibrating tools presented with nonhealing wounds on his right thumb and third digit. Arteriography revealed occlusions of multiple arteries in his hand with formation of collaterals. We diagnosed HAVS, and his wounds healed after several weeks with appropriate treatment. HAVS is a debilitating condition with often irreversible vascular damage, requiring early diagnosis and treatment.

Trends in incidence of occupational asthma, contact dermatitis, noise-induced hearing loss, carpal tunnel syndrome and upper limb musculoskeletal disorders in European countries from 2000 to 2012.

PubMed

Stocks, S Jill; McNamee, Roseanne; van der Molen, Henk F; Paris, Christophe; Urban, Pavel; Campo, Giuseppe; Sauni, Riitta; Martínez Jarreta, Begoña; Valenty, Madeleine; Godderis, Lode; Miedinger, David; Jacquetin, Pascal; Gravseth, Hans M; Bonneterre, Vincent; Telle-Lamberton, Maylis; Bensefa-Colas, Lynda; Faye, Serge; Mylle, Godewina; Wannag, Axel; Samant, Yogindra; Pal, Teake; Scholz-Odermatt, Stefan; Papale, Adriano; Schouteden, Martijn; Colosio, Claudio; Mattioli, Stefano; Agius, Raymond

2015-04-01

The European Union (EU) strategy for health and safety at work underlines the need to reduce the incidence of occupational diseases (OD), but European statistics to evaluate this common goal are scarce. We aim to estimate and compare changes in incidence over time for occupational asthma, contact dermatitis, noise-induced hearing loss (NIHL), carpal tunnel syndrome (CTS) and upper limb musculoskeletal disorders across 10 European countries. OD surveillance systems that potentially reflected nationally representative trends in incidence within Belgium, the Czech Republic, Finland, France, Italy, the Netherlands, Norway, Spain, Switzerland and the UK provided data. Case counts were analysed using a negative binomial regression model with year as the main covariate. Many systems collected data from networks of 'centres', requiring the use of a multilevel negative binomial model. Some models made allowance for changes in compensation or reporting rules. Reports of contact dermatitis and asthma, conditions with shorter time between exposure to causal substances and OD, were consistently declining with only a few exceptions. For OD with physical causal exposures there was more variation between countries. Reported NIHL was increasing in Belgium, Spain, Switzerland and the Netherlands and decreasing elsewhere. Trends in CTS and upper limb musculoskeletal disorders varied widely within and between countries. This is the first direct comparison of trends in OD within Europe and is consistent with a positive impact of European initiatives addressing exposures relevant to asthma and contact dermatitis. Taking a more flexible approach allowed comparisons of surveillance data between and within countries without harmonisation of data collection methods. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Planning for a Change in Recruit Patient Mix

DTIC Science & Technology

1986-08-01

back pain , shoulder syndromes, muscle weakness and arthritic conditions. Trauma-related conditions are not included in musculoskeletal disorders. Trauma...specimens. As for pharmacy, there will be a one-time impact of stocking the RTC clinic pharmacy with vaginal creams , birth control pills, etc...implications for the clinic. These implications range from use of more pain /muscle relaxing medications, loss of training time for Injured recruits

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

PubMed Central

2011-01-01

Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal. Methods We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome. Results Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial), independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients. Conclusion In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity. PMID:21699693

Diagnosis and treatment of movement system impairment syndromes.

PubMed

Sahrmann, Shirley; Azevedo, Daniel C; Dillen, Linda Van

Diagnoses and treatments based on movement system impairment syndromes were developed to guide physical therapy treatment. This masterclass aims to describe the concepts on that are the basis of the syndromes and treatment and to provide the current research on movement system impairment syndromes. The conceptual basis of the movement system impairment syndromes is that sustained alignment in a non-ideal position and repeated movements in a specific direction are thought to be associated with several musculoskeletal conditions. Classification into movement system impairment syndromes and treatment has been described for all body regions. The classification involves interpreting data from standardized tests of alignments and movements. Treatment is based on correcting the impaired alignment and movement patterns as well as correcting the tissue adaptations associated with the impaired alignment and movement patterns. The reliability and validity of movement system impairment syndromes have been partially tested. Although several case reports involving treatment using the movement system impairment syndromes concept have been published, efficacy of treatment based on movement system impairment syndromes has not been tested in randomized controlled trials, except in people with chronic low back pain. Copyright © 2017 Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia. Publicado por Elsevier Editora Ltda. All rights reserved.

New daily persistent headache.

PubMed

Rozen, Todd D

2010-01-01

New daily persistent headache (NDPH) is a unique form of chronic daily headache (CDH) which is marked by a daily headache from onset, typically occurring in individuals without a significant prior history of headaches. There are two subforms of NDPH: one which is self-limited and normally goes away without therapy, and a more chronic refractory form which is unresponsive to typical headache treatment strategies. The pathogenesis of NDPH is unknown but recent observations suggest a connection with cervical spine hypermobility and elevation of proinflammatory cytokines in the cerebrospinal fluid (CSF). Recognized triggers for NDPH include infection, stressful life events, and surgical procedures. Clinically, NDPH is characterized by continuous head pain of mild to severe intensity. Migrainous symptoms are common. The syndrome appears to affect women in their teens and 20s, while males develop NDPH later in life in their 50s or 60s. There are no recognized treatments for this condition, although treatment options will be discussed. Secondary mimics of NDPH will also be touched upon in this chapter. Copyright © 2011 Elsevier B.V. All rights reserved.

Central Mechanisms in the Maintenance of Chronic Widespread Noninflammatory Muscle Pain

PubMed Central

DeSantana, Josimari M.; Sluka, Kathleen A.

2009-01-01

Chronic widespread pain (CWP) conditions such as fibromyalgia and myofascial syndromes are characterized by generalized pain, tenderness, morning stiffness, disturbed sleep, and pronounced fatigue. However, CWP pathophysiology is still unclear. A number of hypotheses have been proposed as the underlying pathophysiology of CWP: muscular dysfunction/ischemia, central sensitization, and a deficit in endogenous pain-modulating systems. This article reviews the current and emerging literature about the pathophysiology and neurobiology of chronic widespread musculoskeletal pain. Widespread musculoskeletal pain results in changes in the central nervous system in human subjects and animal models. These changes likely reflect alterations in supraspinal modulation of nociception, and include increases in excitatory and decreases in inhibitory modulation pathways. These alterations in excitation and inhibition likely drive changes observed in the spinal cord to result in central sensitization, and the consequent pain and hyperalgesia. PMID:18765138

Cryopyrin-associated periodic syndrome.

PubMed

Giat, Eitan; Lidar, Merav

2014-10-01

CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Genetic testing has allowed for grouping of the three, previously distinct clinical syndromes of FCAS, MWS and NOMID, into a single syndrome termed CAPS. The clinical features include urticarial rash and fever, CNS and musculoskeletal involvement, ocular disorders and progressive deafness. Onset, severity and complications (mainly retardation, seizures, destructive arthropathy and amyloidosis) depend on the specific mutation. Diagnosis is determined by genetic tests but is often delayed due to lack of awareness. In Israel, the relative abundance of other autoinflammatory disorders (FMF, Behçet's disease) may result in misdiagnosis. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis.

Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

PubMed

Salinas-Torres, Victor M; Salinas-Torres, Rafael A

2016-06-01

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Review of musculoskeletal injuries and prevention in the endoscopy practitioner.

PubMed

Harvin, Glenn

2014-08-01

Practitioners of endoscopy often experience musculoskeletal pain and injury (most often in the back, neck, shoulders, hands, wrists, and thumbs) that are associated with the minute and repetitive strain that is placed on these areas during endoscopic procedures. This review of the current documentation of endoscopy-related pain and injuries among practitioners finds that such problems are widespread and specific in kind as well as strongly correlated with high procedure volume and procedure duration. Research on the nature and impact of cumulative trauma and overuse syndromes in other professions such as dentistry, pianists, production labor, and athletics is brought to bear on the work of the endoscopist. A more thorough understanding of the nature and prevalence of work-related pain and injury sustained by endoscopists should inform further development of ergonomic practices and equipment design. This article reviews current recommendations for ergonomic design in the endoscopy procedure space and finds that reported compliance with those recommendations is quite low. Strategies for the management of the risk of musculoskeletal injuries related to the practice of endoscopy include compliance with currently recommended ergonomic practices, education of trainees in ergonomic technique when practicing endoscopy, and research toward the modification and development of more ergonomic endoscopes and procedure spaces.

Chronic widespread musculoskeletal pain in patients with obstructive sleep apnea syndrome and the relationship between sleep disorder and pain level, quality of life, and disability.

PubMed

Aytekin, Ebru; Demir, Saliha Eroglu; Komut, Ece Akyol; Okur, Sibel Caglar; Burnaz, Ozer; Caglar, Nil Sayiner; Demiryontar, Dilay Yilmaz

2015-09-01

[Purpose] The aim of this study was to ascertain the prevalence of chronic widespread musculoskeletal pain in patients with obstructive sleep apnea syndrome and to assess the relationship between sleep disorder and pain, quality of life, and disability. [Subjects and Methods] Seventy-four patients were included in the study and classified as having mild, moderate, or severe obstructive sleep apnea. Chronic widespread pain, quality of life, and disability were evaluated. [Results] Forty-one patients (55.4%) had chronic widespread pain. Female patients had a higher incidence of chronic pain, and female patients with chronic pain had higher body mass indexes, pain levels, and disability scores than did male patients. Physical component scores of female patients with chronic pain were lower than those of male patients. No correlation was observed between the degree of sleep disorder and severity of pain, pain duration, disability, or quality of life in obstructive sleep apnea patients with pain. [Conclusion] This study showed a 55.4% prevalence of chronic widespread pain in patients with obstructive sleep apnea and a greater risk of chronic pain in female than in male patients. Female patients with obstructive sleep apnea and chronic pain have higher pain and disability levels and a lower quality of life.

Clinical signs associated with ingestion of black walnut tree (Juglans nigra) wood, nuts, and hulls in dogs: 93 cases (2001-2012).

PubMed

Coleman, Adrienne E; Merola, Valentina

2016-01-15

To identify clinical signs associated with oral exposure to black walnut tree (Juglans nigra) wood, nuts, or nut hulls in dogs and to compare clinical syndromes between dogs that ingested wood and dogs that ingested the walnuts or nut hulls. Retrospective case series. 93 dogs. Records of dogs with oral exposure to black walnut wood, nuts, or nut hulls between November 2001 and December 2012 were retrieved from the Animal Poison Control Center database. Records were reviewed, and data regarding signalment; exposure; time of onset, type, and duration of clinical signs; serum biochemical abnormalities; treatment; and response to treatment were collected. Results were compared statistically between dogs that ingested wood and those that ingested nut components. 28 cases involved exposure to wood, and 65 involved exposure to nuts or hulls. Spontaneous vomiting was commonly observed (13/28 [46%] and 31/65 [48%] dogs that ingested wood and nut components, respectively). Neurologic or musculoskeletal signs were significantly more common in dogs that ingested wood (26/28 [93%]) than in those that ingested nuts or hulls (15/65 [23%]). Relative risk of developing neurologic signs after ingestion of wood was approximately 4 times that after ingestion of nuts or hulls. Ingestion of black walnut wood by dogs resulted in a clinical syndrome in which neurologic or musculoskeletal signs were most frequently reported, whereas ingestion of black walnuts or their hulls was most commonly associated with vomiting. To our knowledge, this is the first report describing 2 different clinical syndromes associated with exposure to black walnut tree components in dogs.

Use of a prevention index to identify industries at high risk for work-related musculoskeletal disorders of the neck, back, and upper extremity in Washington state, 1990-1998.

PubMed

Silverstein, Barbara; Viikari-Juntura, Eira; Kalat, John

2002-03-01

The prevention of work-related musculoskeletal disorders such as carpal tunnel syndrome and low back disorders has been a focus of international prevention efforts including regulation. This study examines workers compensation claims in Washington State to provide baseline data from which to assess the need and the effects of prevention activities. Washington State Fund workers compensation claims for general and selected specific hand/wrist, elbow, shoulder, and back disorders in 1990-1998 as well as general self-insured compensable (four or more lost workdays) claims data were examined. Payroll hours were used to calculate claims incidence rates per 10,000 full-time equivalent employees (FTEs). We created a prevention index (PI) to rank industries by averaging the ranks of their number of claims and their claims incidence rate. The focus was on non-traumatic soft tissue musculoskeletal disorders (NTST-MSDs). Between 1990-1998, there were 392,925 State Fund accepted claims for NTST-MSDs of the neck, back, and upper extremity resulting in $2.6 billion in direct costs and 20.5 million lost workdays. The average claims incidence rate (CIR) was 355 NTST-MSDs per 10,000 FTEs. The NTST-MSD CIR decreased significantly less than that for all other claims (P = 0.05) but the CIR for upper extremity NTST-MSDs did not significantly decrease over the study period. There were no significant changes in the CIRs for sciatica (4.9 per 10,000 FTEs) and rotator cuff syndrome (15.3 per 10,000 FTEs), whereas the CIR for epicondylitis (10.6 per 10,000 FTEs) increased and for carpal tunnel syndrome (24.5 per 10,000 FTEs) decreased significantly over the study period. Based on the prevention index, the top five industries for combined State Fund and Self-Insured Compensable NTST-MSDs were Trucking and Courier Services (SIC 421), Nursing Homes (SIC 805), Masonry (SIC 174), Air Transportation (SIC 451), and Residential Construction (SIC 152). Using Washington Industrial Classes (WIC), temporary workers in assembly and administrative services were also high on the prevention index. NTST-MSDs continue to be a large and costly problem in Washington State. While the incidence rates for some NTST-MSDs are decreasing, the overall rate is not decreasing as fast as the rate for all other claims. In some cases, the rate is stable (sciatica, rotator cuff syndrome) or increasing (epicondylitis). Heavy manual handling and repetitive work characterize the industries with the highest risk. Copyright 2002 Wiley-Liss, Inc.

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ottenheijm, Coen A.C.; Voermans, Nicol C.; Hudson, Bryan D.

Tenascin-X (TNX) is an extracellular matrix glycoprotein whose absence leads to Ehlers-Danlos Syndrome (EDS). TNX-deficient EDS patients present with joint hypermobility and muscle weakness attributable to increased compliance of the extracellular matrix. We hypothesized that in response to the increased compliance of the extracellular matrix in TNX-deficient EDS patients, intracellular adaptations take place in the elastic properties of the giant muscle protein titin. We performed extensive single muscle fiber mechanical studies to determine active and passive properties in TNX-deficient EDS patients. Gel-electrophoresis, Western blotting, and microarray studies were used to evaluate titin expression and phosphorylation. X-ray diffraction was used tomore » measure myofilament lattice spacing. Passive tension of muscle fibers from TNX-deficient EDS patients was markedly increased. Myofilament extraction experiments indicated that the increased passive tension is attributable to changes in the properties of the sarcomeric protein titin. Transcript and protein data indicated no changes in titin isoform expression. Instead, differences in posttranslational modifications within titin's elastic region were found. In patients, active tension was not different at maximal activation level, but at submaximal activation level it was augmented attributable to increased calcium sensitivity. This increased calcium sensitivity might be attributable to stiffer titin molecules. In response to the increased compliance of the extracellular matrix in muscle of TNX-deficient EDS patients, a marked intracellular stiffening occurs of the giant protein titin. The stiffening of titin partly compensates for the muscle weakness in these patients by augmenting submaximal active tension generation.« less

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

PubMed Central

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne

2018-01-01

Purpose In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Methods We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. Results Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. Conclusion Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. PMID:28617417

Posture and Loading in the Pathomechanics of Carpal Tunnel Syndrome: A Review.

PubMed

Vignais, Nicolas; Weresch, Justin; Keir, Peter J

2016-01-01

Carpal tunnel syndrome is a neuropathy of the median nerve at the wrist, and represents the most common peripheral neuropathy. It has long been an issue in the workplace because of healthcare costs and loss of productivity. The two main pathomechanisms of carpal tunnel syndrome include increased hydrostatic pressure within the carpal tunnel (carpal tunnel pressure) and contact stress (or impingement). As most cases of carpal tunnel syndrome in the workplace are labelled "idiopathic", a clear understanding of the physical parameters that may act as pathomechanisms is critical for its prevention. The aim of this review is to examine and quantify the influence of posture and loading factors on the increase of carpal tunnel pressure and median nerve contact stress. Forearm, wrist, and finger postures, as well as fingertip force have significant effects on carpal tunnel pressure. Contact stress on the median nerve is mainly a product of wrist posture and musculotendinous loading. Anatomical and musculoskeletal sources have been proposed to explain these effects. This critical review provides an improved understanding of pathomechanisms and etiology underlying carpal tunnel syndrome.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PubMed

Min Ko, Jung; Cho, Jae So; Yoo, Yongjin; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; Lee, Hye-Ran; Cho, Tae-Joon

2017-02-01

Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.

Posttreatment Lyme disease syndrome.

PubMed

Aucott, John N

2015-06-01

The prognosis following appropriate antibiotic treatment of early or late Lyme disease is favorable but can be complicated by persistent symptoms of unknown cause termed posttreatment Lyme disease syndrome (PTLDS), characterized by fatigue, musculoskeletal pain, and cognitive complaints that persist for 6 months or longer after completion of antibiotic therapy. Risk factors include delayed diagnosis, increased severity of symptoms, and presence of neurologic symptoms at time of initial treatment. Two-tier serologic testing is neither sensitive nor specific for diagnosis of PTLDS because of variability in convalescent serologic responses after treatment of early Lyme disease. Optimal treatment of PTLDS awaits more precise understanding of the pathophysiologic mechanisms involved in this illness and future treatment trials. Copyright © 2015 Elsevier Inc. All rights reserved.

Obesity, genetics and the skin.

PubMed

Millington, G W M

2013-01-01

The increasing problem of obesity in childhood is recognized as both a short-term and long-term serious public-health concern. Excess body weight may contribute to psychological morbidity; cancers; metabolic, cardiovascular and musculoskeletal disorders; and dermatological conditions. There is increasing recognition of the role of genetic factors in the aetiology of obesity. Although in the vast majority of cases these influences are polygenic, some obese children suffer from monogenic disorders, which may present with obesity alone. However, more often than not, they generally display other syndromic features. Some of these syndromes have a clear cutaneous phenotype, and these conditions will be the focus of this review. © The Author(s) CED © 2012 British Association of Dermatologists.

Pain Amplification Syndrome: A Biopsychosocial Approach.

PubMed

Namerow, Lisa B; Kutner, Emily C; Wakefield, Emily C; Rzepski, Barbara R; Sahl, Robert A

2016-08-01

Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception. Pediatric neurologists are imperative in the identification of patients with PAS, providing the family assurance in diagnosis and validation of pain, and directing patients to the appropriate multidisciplinary treatment pathway. Copyright © 2016 Elsevier Inc. All rights reserved.

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

PubMed

Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

2001-10-01

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Complications of Cushing's syndrome: state of the art.

PubMed

Pivonello, Rosario; Isidori, Andrea M; De Martino, Maria Cristina; Newell-Price, John; Biller, Beverly M K; Colao, Annamaria

2016-07-01

Cushing's syndrome is a serious endocrine disease caused by chronic, autonomous, and excessive secretion of cortisol. The syndrome is associated with increased mortality and impaired quality of life because of the occurrence of comorbidities. These clinical complications include metabolic syndrome, consisting of systemic arterial hypertension, visceral obesity, impairment of glucose metabolism, and dyslipidaemia; musculoskeletal disorders, such as myopathy, osteoporosis, and skeletal fractures; neuropsychiatric disorders, such as impairment of cognitive function, depression, or mania; impairment of reproductive and sexual function; and dermatological manifestations, mainly represented by acne, hirsutism, and alopecia. Hypertension in patients with Cushing's syndrome has a multifactorial pathogenesis and contributes to the increased risk for myocardial infarction, cardiac failure, or stroke, which are the most common causes of death; risks of these outcomes are exacerbated by a prothrombotic diathesis and hypokalaemia. Neuropsychiatric disorders can be responsible for suicide. Immune disorders are common; immunosuppression during active disease causes susceptibility to infections, possibly complicated by sepsis, an important cause of death, whereas immune rebound after disease remission can exacerbate underlying autoimmune diseases. Prompt treatment of cortisol excess and specific treatments of comorbidities are crucial to prevent serious clinical complications and reduce the mortality associated with Cushing's syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

Mind body therapies in rehabilitation of patients with rheumatic diseases.

PubMed

Del Rosso, Angela; Maddali-Bongi, Susanna

2016-02-01

Mind body therapies (MBT) share a global approach involving both mental and physical dimensions, and focus on relationship between brain, mind, body and behavior and their effects on health and disease. MBT include concentration based therapies and movement based therapies, comprising traditional Oriental practices and somatic techniques. The greatest part of rheumatic diseases have a chronic course, leading to progressive damages at musculoskeletal system and causing physical problems, psychological and social concerns. Thus, rheumatic patients need to be treated with a multidisciplinary approach integrating pharmacological therapies and rehabilitation techniques, that not should only aim to reduce the progression of damages at musculoskeletal system. Thus, MBT, using an overall approach, could be useful in taking care of the overall health of the patients with chronic rheumatic diseases. This review will deal with different MBT and with their effects in the most common chronic rheumatic diseases (Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia Syndrome). Copyright © 2015. Published by Elsevier Ltd.

Musculoskeletal disorder costs and medical claim filing in the US retail trade sector.

PubMed

Bhattacharya, Anasua; Leigh, J Paul

2011-01-01

The average costs of Musculoskeletal Disorder (MSD) and odds ratios for filing medical claims related to MSD were examined. The medical claims were identified by ICD 9 codes for four US Census regions within retail trade. Large private firms' medical claims data from Thomson Reuters Inc. MarketScan databases for the years 2003 through 2006 were used. Average costs were highest for claims related to lumbar region (ICD 9 Code: 724.02) and number of claims were largest for low back syndrome (ICD 9 Code: 724.2). Whereas the odds of filing an MSD claim did not vary greatly over time, average costs declined over time. The odds of filing claims rose with age and were higher for females and southerners than men and non-southerners. Total estimated national medical costs for MSDs within retail trade were $389 million (2007 USD).

Underreporting of musculoskeletal disorders in 10 regions in France in 2009.

PubMed

Rivière, Stéphanie; Penven, Emmanuelle; Cadéac-Birman, Hélène; Roquelaure, Yves; Valenty, Madeleine

2014-10-01

Underreporting of occupational diseases (OD) has been quantified, in particular in the United States, but little information is available in other countries. The aim of this study was to evaluate underreporting of musculoskeletal disorders (MSD) in France in 2009. We calculated an indicator that approximated the underreporting rate of MSD in 10 regions of France. Two databases were used: data on OD compensated by insurance funding and data from the surveillance program for uncompensated work-related diseases. Analyses were performed for carpal tunnel syndrome (CTS) and elbow, shoulder, and lumbar spine MSD. The underreporting rate was estimated at 59% (range 52-64%) for CTS, 73% (range 67-79%) for elbow MSD, 69% (range 63-74%) for shoulder MSD, and 63% (range 50-76%) for lumbar spine MSD. This study revealed that MSD are substantially underreported in France, as in the United States, despite the differences in workers' compensation systems. © 2014 Wiley Periodicals, Inc.

Gender differences in public office workers' satisfaction, subjective symptoms and musculoskeletal complaints in workplace and office environments.

PubMed

Lee, Sangbok; Park, Myoung Hwan; Jeong, Byung Yong

2018-06-01

This study investigates differences between male and female public office workers' satisfaction levels, sick building syndrome (SBS) symptoms and musculoskeletal disorder (MSD) complaints in workplace and office environments. Questionnaire surveys were performed in 30 offices from 15 public institutions. Male and female workers of the same age were coupled and selected from each office, gathering a total of 120 male and 120 female subjects. The results show that differences exist between genders in noise and lighting satisfaction levels, SBS-related symptoms (eye, nose, skin) and MSD complaints of hand/wrist/finger, while there is no difference in overall satisfaction level of office environments. The study also suggests that office design for public office workers should take into account gender differences in preventing MSDs and also SBS. The findings of this study are expected to serve as basic data for designing effective public office environments.

[Occupational diseases in an airline company].

PubMed

Lie, A

1998-06-30

617 cases of occupational health disorders in an average population of approximately 4,400 were reported by the Occupational Health Services of the Norwegian section of SAS during the period 1985 to 1996. Musculoskeletal disorders accounted for approximately 75% of all registered disorders. Wherever possible, occupational disorders should be registered and preventive measures initiated by the company. It is therefore of great importance that a registration system should include all occupational disorders. If we compare our figures with the official Norwegian figures from the Labour Inspectorate, we may conclude that only 3-4% of occupational disorders are reported to the Authorities. In particular it seems that many disorders which do not yield economic compensation (musculoskeletal disorders, and mental stress and burnout syndromes) are not reported at all, making it less likely that preventive measures are implemented. The Nordic figures indicate that inadequate reporting occurs more frequently in Norway than in Sweden, Denmark and Finland.

Autonomic Symptoms at Baseline and Following Infectious Mononucleosis in a Prospective Cohort of Adolescents

PubMed Central

Katz, Ben Z.; Stewart, Julian M.; Shiraishi, Yukiko; Mears, Cynthia J.; Taylor, Renee

2014-01-01

Chronic fatigue syndrome (CFS) is a complex condition involving fatigue and musculoskeletal and cognitive symptoms. Six, 12, and 24 months following monospot-positive acute infectious mononucleosis (IM), 13%, 7%, and 4%, respectively, of adolescents met criteria for CFS.1 As part of their evaluation at baseline and 6, 12, and 24 months following IM, adolescents diagnosed with CFS and recovered controls completed questionnaires regarding autonomic symptoms. PMID:21810640

Occupational health hazards to the ultrasonographer and their possible prevention.

PubMed

Mercer, R B; Marcella, C P; Carney, D K; McDonald, R W

1997-05-01

Occupational health hazards in ultrasonography are becoming more prevalent as the field continues to grow. Eye strain, musculoskeletal pain or injury, carpal tunnel syndrome, repetitive strain injuries, stress, burnout, and other hazards have been addressed as concerns in other studies and surveys. These topics are discussed, as well as the possible preventive measures that may be used to maximize and maintain the ultrasonographer's well-being throughout his or her career.

Ultrasonography of the hand, wrist, and elbow.

PubMed

Bodor, Marko; Fullerton, Brad

2010-08-01

High-frequency diagnostic ultrasonography of the hand, wrist and elbow has significant potential to improve the quality of diagnosis and care provided by neuromuscular and musculoskeletal specialists. In patients referred for weakness, pain and numbness of the hand, wrist or elbow, diagnostic ultrasonography can be an adjunct to electrodiagnosis and help in identifying ruptured tendons and treating conditions such as carpal tunnel syndrome or trigger finger. Use of a small high-frequency (>10-15 MHz) transducer, an instrument with a blunt pointed tip to enhance sonopalpation and a model of the hand, wrist and elbow is advised to enhance visualization of small anatomical structures and complex bony contours. A range of conditions, including tendon and ligament ruptures, trigger finger, de Quervain tenosynovitis, intersection syndrome, lateral epicondylitis, and osteoarthritis, is described along with detailed ultrasonography-guided injection techniques for carpal tunnel syndrome and trigger finger. Copyright 2010 Elsevier Inc. All rights reserved.

Pregnancy-related pelvic girdle pain: an update

PubMed Central

2011-01-01

A large number of scientists from a wide range of medical and surgical disciplines have reported on the existence and characteristics of the clinical syndrome of pelvic girdle pain during or after pregnancy. This syndrome refers to a musculoskeletal type of persistent pain localised at the anterior and/or posterior aspect of the pelvic ring. The pain may radiate across the hip joint and the thigh bones. The symptoms may begin either during the first trimester of pregnancy, at labour or even during the postpartum period. The physiological processes characterising this clinical entity remain obscure. In this review, the definition and epidemiology, as well as a proposed diagnostic algorithm and treatment options, are presented. Ongoing research is desirable to establish clear management strategies that are based on the pathophysiologic mechanisms responsible for the escalation of the syndrome's symptoms to a fraction of the population of pregnant women. PMID:21324134

Review and update of mutations causing Waardenburg syndrome.

PubMed

Pingault, Véronique; Ente, Dorothée; Dastot-Le Moal, Florence; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège

2010-04-01

Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling. (c) 2010 Wiley-Liss, Inc.

Onset, prognosis and risk factors for widespread pain in schoolchildren: a prospective 4-year follow-up study.

PubMed

Mikkelsson, Marja; El-Metwally, Ashraf; Kautiainen, Hannu; Auvinen, Anssi; Macfarlane, Gary J; Salminen, Jouko J

2008-09-15

Little is known about the epidemiology of widespread pain (WSP) in children and adolescents. This study aims to estimate the new-onset and prognosis of WSP in schoolchildren and investigate factors predicting its development. A prospective study was conducted among 1756 schoolchildren (age 10-12 years) in Southern Finland. At baseline, information was collected on WSP, regional musculoskeletal pain symptoms, depressiveness, fatigue, sleep problems, physical activity and joint hypermobility. These children were contacted again 1 year and 4 years later to determine the outcome and the new-onset of WSP. A total of 1282 children (73%) of the baseline study population were found at both follow-ups. Of the children who had WSP at baseline, 31% and 30% reported persistence/recurrence of symptoms at 1- and 4-year follow-up, respectively. However, only 10% of these children reported WSP at both 1 and 4 years. Of the children who were free of WSP at baseline, 18% reported new-onset WSP at 1-year follow-up and 3% reported these symptoms at both follow-up times. The independent baseline risk factors of WSP were older age (OR 1.3 95% CI 1.0-1.8), female gender (OR 1.4, 1.1-1.9), depressiveness (OR 1.5, 1.1-2.2) and regional back pain symptoms (Neck pain: OR 1.7, 1.1-2.4; Upper back pain: OR 2.1, 1.1-4.1; Lower back pain: OR 3.0, 1.6-5.7). Both psychological factors and somatic pain symptoms predict future development of WSP in adolescents.

Improving musculoskeletal health: global issues.

PubMed

Mody, Girish M; Brooks, Peter M

2012-04-01

Musculoskeletal (MSK) disorders are among the leading reasons why patients consult a family or primary health practitioner, take time off work and become disabled. Many of the MSK disorders are more common in the elderly. Thus, as the proportion of the elderly increases all over the world, MSK disorders will make a greater contribution to the global burden of disease. Epidemiological studies have shown that the spectrum of MSK disorders in developing countries is similar to that seen in industrialised countries, but the burden of disease tends to be higher due to a delay in diagnosis or lack of access to adequate health-care facilities for effective treatment. Musculoskeletal pain is very common in the community while fibromyalgia is being recognised as part of a continuum of chronic widespread pain rather than a narrowly defined entity. This will allow research to improve our understanding of pain in a variety of diffuse pain syndromes. The availability of newer more effective therapies has resulted in efforts to initiate therapy at an earlier stage of diseases. The new criteria for rheumatoid arthritis, and the diagnosis of axial and peripheral involvement in spondyloarthritis, permit an earlier diagnosis without having to wait for radiological changes. One of the major health challenges is the global shortage of health workers, and based on current training of health workers and traditional models of care for service delivery, the global situation is unlikely to change in the near future. Thus, new models of care and strategies to train community health-care workers and primary health-care practitioners to detect and initiate the management of patients with MSK disorders at an earlier stage are required. There is also a need for prevention strategies with campaigns to educate and raise awareness among the entire population. Lifestyle interventions such as maintaining an ideal body weight to prevent obesity, regular exercises, avoidance of smoking and alcohol abuse, intake of a balanced diet and nutrients to include adequate calcium and vitamin D, modification of the work environment and avoidance of certain repetitive activities will prevent or ameliorate disorders such as osteoarthritis, osteoporosis, rheumatoid arthritis, gout and MSK pain syndromes including low back pain and work-related pain syndromes. These prevention strategies also contribute to reducing the prevalence and outcome of diseases such as hypertension, cardiovascular diseases, diabetes and respiratory diseases. Thus, prevention strategies require urgent attention globally. Copyright © 2012 Elsevier Ltd. All rights reserved.

Joint hypermobility in patients with chondromalacia patellae.

PubMed

al-Rawi, Z; Nessan, A H

1997-12-01

The relationship between joint mobility and chondromalacia patellae was reported in a prospective study. A total of 115 patients with chondromalacia patellae were compared with 110 healthy individuals without chondromalacia patellae, matched for age and sex, who served as a control group. The degree of joint mobility was scored on a scale of 0-9. The number of individuals with hypermobile joints and the total mobility scores were significantly higher in patients with chondromalacia patellae when compared to the control group (P < 0.001). There were more hypermobile knees among knee joints with chondromalacia patellae when compared with the knees of the control group (P < 0.01). Chondromalacia patellae were bilateral in 57% of our patients. It occurred more frequently in the longer leg and was associated with quadriceps muscle wasting in 50% of patients. Flat feet and backache were reported significantly more often in patients compared with the control group (P < 0.05). It is concluded that hypermobility of the knee joint may be a contributing factor in the pathogenesis of chondromalacia patellae.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

PubMed Central

Gistelinck, Charlotte; Witten, Paul Eckhard; Huysseune, Ann; Symoens, Sofie; Malfait, Fransiska; Larionova, Daria; Simoens, Pascal; Dierick, Manuel; Van Hoorebeke, Luc; De Paepe, Anne; Kwon, Ronald Y; Weis, MaryAnn; Eyre, David R; Willaert, Andy; Coucke, Paul J

2017-01-01

Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta (OI). BS is caused by bi-allelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in fibrillar collagen telopeptides. This hydroxylation directs cross-linking of collagen fibrils in the extracellular matrix, which is necessary to provide stability and tensile integrity to the collagen fibrils. To further elucidate the function of LH2 in vertebrate skeletal development, we created a zebrafish model harboring a homozygous plod2 nonsense mutation resulting in reduced telopeptide hydroxylation and cross-linking of bone type I collagen. Adult plod2 mutants present with a shortened body axis and severe skeletal abnormalities with evidence of bone fragility and fractures. The vertebral column of plod2 mutants is short and scoliotic with compressed vertebrae that show excessive bone formation at the vertebral end plates, and increased tissue mineral density in the vertebral centra. The muscle fibers of mutant zebrafish have a reduced diameter near the horizontal myoseptum. The endomysium, a layer of connective tissue ensheathing the individual muscle fibers, is enlarged. Transmission electron microscopy of mutant vertebral bone shows type I collagen fibrils that are less organized with loss of the typical plywood-like structure. In conclusion, plod2 mutant zebrafish show molecular and tissue abnormalities in the musculoskeletal system that are concordant with clinical findings in BS patients. Therefore, the plod2 zebrafish mutant is a promising model for the elucidation of the underlying pathogenetic mechanisms leading to BS and the development of novel therapeutic avenues in this syndrome. PMID:27541483

Active epidemiological surveillance of musculoskeletal disorders in a shoe factory

PubMed Central

Roquelaure, Y; Mariel, J; Fanello, S; Boissiere, J; Chiron, H; Dano, C; Bureau, D; Penneau-Fontbonne, D

2002-01-01

Aims: (1) To evaluate an active method of surveillance of musculoskeletal disorders (MSDs). (2) To compare different criteria for deciding whether or not a work situation could be considered at high risk of MSDs in a large, modern shoe factory. Methods: A total of 253 blue collar workers were interviewed and examined by the same physician in 1996; 191 of them were re-examined in 1997. Risk factors of MSDs were assessed for each worker by standardised job site work analysis. Prevalence and incidence rates of carpal tunnel syndrome, rotator cuff syndrome, and tension neck syndrome were calculated for each of the nine main types of work situation. Different criteria used to assess situations with high risk of MSDs were compared. Results: On the basis of prevalence data, three types of work situation were detected to be at high risk of MSDs: cutting, sewing, and assembly preparation. The three types of work situations identified on the basis of incidence data (sewing preparation, mechanised assembling, and finishing) were different from those identified by prevalence data. At least one recognised risk factor for MSDs was identified for all groups of work situations. The ergonomic risk could be considered as serious for the four types of work situation having the highest ergonomic scores (sewing, assembly preparation, pasting, and cutting). Conclusion: The results of the health surveillance method depend largely on the definition of the criteria used to define the risk of MSDs. The criteria based on incidence data are more valid than those based on prevalence data. Health and risk factor surveillance must be combined to predict the risk of MSDs in the company. However, exposure assessment plays a greater role in determining the priorities for ergonomic intervention. PMID:12107293

[The diabetic hand].

PubMed

Schiavon, F; Circhetta, C; Dani, L

2004-01-01

Diabetes mellitus is a chronic metabolic condition characterized by persistent hyperglycaemia with resultant morbidity and mortality related to its microvascular and macrovascular complications. In addition diabetes is also associated with several musculoskeletal disorders of the hand, that can be debilitating. There is increased incidence of these abnormalities in patients with type 1 and type 2 diabetes compared with the general population, related to disease duration but not to the age or sex. Typical diabetes associated hand condition include the palmar flexor tenosynovitis, Dupuytren's contracture, syndrome of limited joint mobility, carpal tunnel syndrome, Charcot arthropathy and reflex sympathetic dystrophy. Maintaining good glycaemic control by exercise, diet and drugs improves or prevents the development of these hand rheumatic condition. In this brief report we review the rational therapeutic approach to these disorders.

Fibromyalgia Syndrome in Need of Effective Treatments

PubMed Central

Tsilioni, Irene; Arbetman, Lauren; Panagiotidou, Smaro; Stewart, Julia M.; Gleason, Rae M.; Russell, Irwin J.

2015-01-01

Fibromyalgia syndrome (FMS) is a chronic, idiopathic condition of widespread musculoskeletal pain, affecting primarily women. It is clinically characterized by chronic, nonarticular pain and a heightened response to pressure along with sleep disturbances, fatigue, bowel and bladder abnormalities, and cognitive dysfunction. The diagnostic criteria have changed repeatedly, and there is neither a definitive pathogenesis nor reliable diagnostic or prognostic biomarkers. Clinical and laboratory studies have provided evidence of altered central pain pathways. Recent evidence suggests the involvement of neuroinflammation with stress peptides triggering the release of neurosenzitizing mediators. The management of FMS requires a multidimensional approach including patient education, behavioral therapy, exercise, and pain management. Here we review recent data on the pathogenesis and propose new directions for research and treatment. PMID:26306765

Influence of side-effects on early therapy persistence with letrozole in post-menopausal patients with early breast cancer: Results of the prospective EvAluate-TM study.

PubMed

Nabieva, N; Fehm, T; Häberle, L; de Waal, J; Rezai, M; Baier, B; Baake, G; Kolberg, H-C; Guggenberger, M; Warm, M; Harbeck, N; Wuerstlein, R; Deuker, J-U; Dall, P; Richter, B; Wachsmann, G; Brucker, C; Siebers, J W; Popovic, M; Kuhn, T; Wolf, C; Vollert, H-W; Breitbach, G-P; Janni, W; Landthaler, R; Kohls, A; Rezek, D; Noesselt, T; Fischer, G; Henschen, S; Praetz, T; Heyl, V; Kühn, T; Krauss, T; Thomssen, C; Hohn, A; Tesch, H; Mundhenke, C; Hein, A; Hack, C C; Schmidt, K; Belleville, E; Brucker, S Y; Kümmel, S; Beckmann, M W; Wallwiener, D; Hadji, P; Fasching, P A

2018-06-01

Endocrine treatment (ET) with an aromatase inhibitor (AI) is the treatment of choice in post-menopausal patients with hormone receptor-positive early breast cancer (EBC). However, adverse events (AEs) often lead to treatment discontinuation. This analysis aimed to identify side-effects that lead to patients failing to persist with letrozole treatment. Post-menopausal hormone receptor-positive EBC patients starting ET with letrozole were enroled in EvAluate-TM, a non-interventional study. Information regarding treatment compliance and persistence was gathered in months 6 and 12. Persistence was defined as the time from 30 d after the start to the end of treatment. The influence on persistence of musculoskeletal syndrome, menopausal disorder, sleep disorder and other AEs within the first 30 d was analysed using Cox regression analyses. Among 3887 patients analysed, the persistence rate after 12 months was >85%. In all, 568 patients (14.6%) discontinued the treatment, 358 of whom (63.0%) did so only because of side-effects. The main AEs influencing persistence were musculoskeletal symptoms (hazard ratio [HR] 2.55; 95% confidence interval [CI], 1.90-3.42), sleep disorders (HR 1.95; 95% CI, 1.41-2.70) and other AEs (HR 2.03; 95% CI, 1.51-2.73). Menopausal disorder was not associated with non-persistence (HR 1.17; 95% CI, 0.74-1.84). These results suggest that side-effects of AIs such as musculoskeletal syndrome and sleep disorder lead to ET discontinuation within the first treatment year in significant numbers of EBC patients. Compliance programmes adapted for subgroups that are at risk for early non-persistence might help to ensure the recommended therapy duration. CFEM345DDE19. Copyright © 2018 Elsevier Ltd. All rights reserved.

Occupational back disability in U.S. Army personnel.

PubMed

Berkowitz, S M; Feuerstein, M; Lopez, M S; Peck, C A

1999-06-01

Musculoskeletal disorders represent a prevalent source of outpatient visits, lost work time, hospitalization, and disability in the military. Recent research has identified patterns among military occupations, gender, and musculoskeletal disability. Although back disorders accounted for a high percentage of all cases, little is known about the relationship between job type and disability in soldiers. The present study analyzed 41,750 disability cases to determine (1) prevalence of work-related back disability diagnoses, (2) specific jobs associated with greater risk of back disability, and (3) association among gender, job type, and disability. The results indicate that (1) lumbosacral strain and intervertebral disc syndrome represent the most prevalent diagnoses for back disability, (2) certain occupations were associated with higher back disability risk, and (3) specific jobs were identified in which females experienced higher rates of back disability than males. The nature of these high-risk jobs, and recent research on work disability factors in U.S. Army soldiers, suggest that a combination of ergonomic and individual/organizational psychosocial factors may play a role in the development, exacerbation, and maintenance of work disability. Future research that identifies specific job factors contributing to increased back disability risk should assist in the development of empirically based work site prevention programs to improve musculoskeletal health and readiness.

Review of Musculoskeletal Injuries and Prevention in the Endoscopy Practitioner

PubMed Central

2014-01-01

Practitioners of endoscopy often experience musculoskeletal pain and injury (most often in the back, neck, shoulders, hands, wrists, and thumbs) that are associated with the minute and repetitive strain that is placed on these areas during endoscopic procedures. This review of the current documentation of endoscopy-related pain and injuries among practitioners finds that such problems are widespread and specific in kind as well as strongly correlated with high procedure volume and procedure duration. Research on the nature and impact of cumulative trauma and overuse syndromes in other professions such as dentistry, pianists, production labor, and athletics is brought to bear on the work of the endoscopist. A more thorough understanding of the nature and prevalence of work-related pain and injury sustained by endoscopists should inform further development of ergonomic practices and equipment design. This article reviews current recommendations for ergonomic design in the endoscopy procedure space and finds that reported compliance with those recommendations is quite low. Strategies for the management of the risk of musculoskeletal injuries related to the practice of endoscopy include compliance with currently recommended ergonomic practices, education of trainees in ergonomic technique when practicing endoscopy, and research toward the modification and development of more ergonomic endoscopes and procedure spaces. PMID:24798940

Wrist postures and forces in tree planters during three tree unloading conditions.

PubMed

Denbeigh, Kathleen; Slot, Tegan R; Dumas, Geneviève A

2013-01-01

The aims of this study were to investigate wrist postures and forces while operating the shovel during tree planting and to determine if different tree unloading techniques result in variations in wrist postures and forces. Experienced tree planters performed the planting task in a laboratory environment for three conditions: (1) symmetric tree unloading, and asymmetric unloading resulting in (2) right-loaded planting bags and (3) left-loaded planting bags. An optoelectric system and a shovel instrumented with strain gauges captured wrist posture and forces at the wrist, respectively. Wrist extension of up to 45° was observed, and this posture, in combination with varying degrees of wrist deviation, may be a primary risk factor for musculoskeletal pain. Average resultant forces at the wrist were moderately high (>30 N) for each unloading condition, indicating increased risk for the development of repetitive strain injuries such as carpal tunnel syndrome. No significant differences in wrist posture or forces existed between unloading conditions. Wrist pain is a major musculoskeletal complaint among tree planters. This study measured wrist postures and forces at the wrist while operating the shovel during tree planting. The wrist extension observed, in combination with deviation, may be a key risk factor for musculoskeletal pain. Forces at the wrist indicate increased risk for repetitive strain injuries.

Associated malformations among infants with anophthalmia and microphthalmia.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

PubMed

Ohta, Ryuichi; Shimabukuro, Akira

2017-11-01

Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

RAS signalling in energy metabolism and rare human diseases.

PubMed

Dard, L; Bellance, N; Lacombe, D; Rossignol, R

2018-05-08

The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies. Individuals with RASopathies, which are estimated to affect approximately 1/1000 human birth, share many overlapping characteristics, including cardiac malformations, short stature, neurocognitive impairment, craniofacial dysmorphy, cutaneous, musculoskeletal, and ocular abnormalities, hypotonia and a predisposition to developing cancer. Since the identification of the first RASopathy, type 1 neurofibromatosis (NF1), which is caused by the inactivation of neurofibromin 1, several other syndromes have been associated with mutations in the core components of the RAS-MAPK pathway. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), which was formerly called LEOPARD syndrome, Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). Here, we review current knowledge about the bioenergetics of the RASopathies and discuss the molecular control of energy homeostasis and mitochondrial physiology by the RAS pathway. Copyright © 2018 Elsevier B.V. All rights reserved.

Scoliosis in Steinert syndrome: a case report.

PubMed

Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

2005-01-01

Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

DOE Office of Scientific and Technical Information (OSTI.GOV)

Li, M.; Zackai, E.H.; Kaplan, P.

1996-10-16

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2more » patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (1132) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. 16 refs.« less

[Post-Lyme disease syndrome].

PubMed

Błaut-Jurkowska, Justyna; Jurkowski, Marcin

2016-02-01

Lyme disease is a chronic infectious disease caused by the bacteria, spirochete of the Borrelia type. Skin, nervous system, musculoskeletal system and heart may be involved in the course of the disease. The prognosis for properly treated Lyme disease is usually good. However, in about 5% of patients so called Post-Lyme disease syndrome (PLSD) develops. It is defined as a syndrome of subjective symptoms persisting despite proper treatment of Borrelia burgdorferi infection. The most common symptoms include: fatigue, muscle and joint pain, and problems with memory and concentration. Pathogenesis of PLDS remains unknown. The differential diagnosis should include neurological, rheumatic and mental diseases. Till now there is no causative treatment of PLDS. In relieving symptom rehabilitation, painkillers, anti-inflammatory and antidepressants medicines are recommended. Emotional and psychological supports are also necessary. Non-specific symptoms reported by patients with post- Lyme disease syndrome raise the suspicion of other pathologies. This can lead to misdiagnosis and implementation of unnecessary, potentially harmful to the patient's therapy. An increase in tick-borne diseases needs to increase physicians awareness of these issues. © 2016 MEDPRESS.

Clinical presentation and manual therapy for upper quadrant musculoskeletal conditions

PubMed Central

Isabel de-la-Llave-Rincón, Ana; Puentedura, Emilio J; Fernández-de-las-Peñas, César

2011-01-01

In recent years, increased knowledge of the pathogenesis of upper quadrant pain syndromes has translated to better management strategies. Recent studies have demonstrated evidence of peripheral and central sensitization mechanisms in different local pain syndromes of the upper quadrant such as idiopathic neck pain, lateral epicondylalgia, whiplash-associated disorders, shoulder impingement, and carpal tunnel syndrome. Therefore, a treatment-based classification approach where subjects receive matched interventions has been developed and, it has been found that these patients experience better outcomes than those receiving non-matched interventions. There is evidence suggesting that the cervical and thoracic spine is involved in upper quadrant pain. Spinal manipulation has been found to be effective for patients with elbow pain, neck pain, or cervicobrachial pain. Additionally, it is known that spinal manipulative therapy exerts neurophysiological effects that can activate pain modulation mechanisms. This paper exposes some manual therapies for upper quadrant pain syndromes, based on a nociceptive pain rationale for modulating central nervous system including trigger point therapy, dry needling, mobilization or manipulation, and cognitive pain approaches. PMID:23115473

Luteinized unruptured follicle syndrome increased by inactive disease and selective cyclooxygenase 2 inhibitors in women with inflammatory arthropathies.

PubMed

Micu, Mihaela C; Micu, Romeo; Ostensen, Monika

2011-09-01

Administration of nonsteroidal antiinflammatory drugs (NSAIDs) may impair fertility. The occurrence of the luteinized unruptured follicle (LUF) syndrome was assessed in women with inflammatory arthropathies exposed to NSAIDs and compared to that in nonexposed women. Fourteen patients with inflammatory rheumatic disease, 29 women with noninflammatory musculoskeletal conditions, and 449 women not exposed to NSAIDs were studied by intravaginal ultrasound monitoring for follicular development and ovulation in 1 or more menstrual cycles. Disease activity was assessed in inflammatory rheumatic disease. In 59 monitored cycles of patients with continuous NSAID exposure, 35.6% of LUF syndromes occurred compared to 3.4% of LUF syndromes in untreated women (P < 0.001). Etoricoxib was responsible for 75% of LUF syndromes in patients exposed continuously, whereas diclofenac generated 15% of LUF syndromes. An ibuprofen dosage of 1,600 mg/day did not induce LUF syndrome either at continuous periovulatory or discontinuous exposure. Interestingly, the frequency of LUF syndrome was 46.2% in patients with inactive inflammatory disease compared to 15% in patients with active disease (P = 0.023). Etoricoxib generated LUF syndrome in 94.2% of the cases with inactive disease versus 28.6% in patients with active disease (P = 0.003). NSAIDs increased the risk of the LUF syndrome, particularly in patients with inactive disease. The selective cyclooxygenase 2 (COX-2) inhibitor etoricoxib was a more potent inductor of LUF syndrome than nonselective COX inhibitors. Continuous periovulatory exposure to NSAIDs should be avoided when planning a pregnancy in patients with rheumatic diseases. Copyright © 2011 by the American College of Rheumatology.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

PubMed

Lyons, Jonathan J; Yu, Xiaomin; Hughes, Jason D; Le, Quang T; Jamil, Ali; Bai, Yun; Ho, Nancy; Zhao, Ming; Liu, Yihui; O'Connell, Michael P; Trivedi, Neil N; Nelson, Celeste; DiMaggio, Thomas; Jones, Nina; Matthews, Helen; Lewis, Katie L; Oler, Andrew J; Carlson, Ryan J; Arkwright, Peter D; Hong, Celine; Agama, Sherene; Wilson, Todd M; Tucker, Sofie; Zhang, Yu; McElwee, Joshua J; Pao, Maryland; Glover, Sarah C; Rothenberg, Marc E; Hohman, Robert J; Stone, Kelly D; Caughey, George H; Heller, Theo; Metcalfe, Dean D; Biesecker, Leslie G; Schwartz, Lawrence B; Milner, Joshua D

2016-12-01

Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of α-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort. Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.

Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice

PubMed Central

Egging, David F.; van Vlijmen-Willems, Ivonne; Choi, Jiwon; Peeters, Anita C. T. M.; van Rens, Desiree; Veit, Guido; Koch, Manuel; Davis, Elaine C.

2008-01-01

Tenascin-X (TNX) is a large, multi-domain, extracellular matrix glycoprotein. Complete deficiency of TNX in humans leads to a recessive form of Ehlers-Danlos syndrome (EDS), and TNX haploinsufficiency is a cause of hypermobility type EDS. EDS patients appear to have a higher risk of several complications during pregnancy, such as pelvic instability, premature rupture of membranes, and postpartum hemorrhage. Here, we present a study of genitourinary and obstetric complications in TNX-deficient women of reproductive age. We have found complications, such as uterus prolapses, that are in agreement with previous findings in other EDS types. In TNX knockout (KO) mice, we have observed mild pregnancy-related abnormalities. Morphological and immunohistological analysis of uterine tissues has not revealed obvious quantitative or spatial differences between TNX KO and wildtype mice with respect to collagen types I, III, V, and XII or elastic fibers. We conclude that TNX-deficient women are at risk of obstetric complications, but that TNX KO mice show only a mild phenotype. Furthermore, we show that TNX is involved in the stability of elastic fibers rather than in their initial deposition. PMID:18335242

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study.

PubMed

Hugon-Rodin, Justine; Lebègue, Géraldine; Becourt, Stéphanie; Hamonet, Claude; Gompel, Anne

2016-09-13

Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associated with chronic pain, skin fragility and abnormal bleeding. These characteristics may hamper reproductive life. We conducted a study to evaluate the gynecologic and obstetric outcomes in women with hEDS. We also explored a possible hormonal modulation of the hEDS symptoms. The gynecologic and obstetric history of 386 consecutive women diagnosed with hEDS was collected by a standardized questionnaire and a medical consultation performed by a senior gynecologist in an expert centre for hEDS between May 2012 and December 2014. We observed a high frequency of gynecologic complaints, specifically: menorrhagia (76 %), dysmenorrhea (72 %) and dyspareunia (43 %). Endometriosis was not highly prevalent in this population. The obstetric outcomes were similar to those of the general French population for deliveries by cesarean section (14.6 %) and premature births (6.2 %) but the incidence of multiple spontaneous abortion (13 %) and spontaneous abortion (28 %) were significantly higher. A subset of women were sensitive to hormonal fluctuations with more severe symptoms occurring during puberty, prior to menstruation, during the postpartum period as well as on oral contraception. Increased awareness of the gynecological symptomatology in women with hEDS can help discriminate between endometriosis and thus prevent useless, and potentially dangerous, surgery. This study also suggests that hormonal modulation may be an appropriate treatment for a subset of women with hEDS.

Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study.

PubMed

Voermans, N C; Knoop, H; Bleijenberg, G; van Engelen, B G

2011-06-01

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The aim of this study was to investigate the relationship between fatigue severity and subjective and objective measures of muscle weakness. Furthermore, the predictive value of muscle weakness for fatigue severity was determined, together with that of pain and physical activity. An explorative, cross-sectional, observational study. Thirty EDS patients, recruited from the Dutch patient association, were investigated at the neuromuscular outpatient department of a tertiary referral centre in The Netherlands. Muscle strength measured with manual muscle strength testing and hand-held dynamometry. Self-reported muscle weakness, pain, physical activity levels and fatigue were assessed with standardised questionnaires. Fatigue severity in EDS was significantly correlated with measured and self-reported muscle weakness (r=-0.408 for manual muscle strength, r=0.461 for hand-held dynamometry and r=0.603 for self-reported muscle weakness). Both muscle weakness and pain severity were significant predictors of fatigue severity in a multiple regression analysis. The results suggest a positive and direct relationship between fatigue severity and muscle weakness in EDS. Future research should focus on the relationship between fatigue, muscle weakness and objectively measured physical activity, preferably in a larger cohort of EDS patients. Copyright © 2010 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

Disseminated Prototheca wickerhamii infection with arthritis and tenosynovitis.

PubMed

Pascual, Joan S; Balos, Lucia L; Baer, Alan N

2004-09-01

Achloric algae of the Prototheca species are a rare cause of infection in humans. These infections are usually localized to the skin, olecranon bursae, and tendon sheaths of the hands and wrists. Our patient with acquired immunodeficiency syndrome and a chronic Prototheca wickerhamii skin infection of the hand developed tenosynovitis and arthritis of his ankle in the setting of a documented algemia. This is the first reported case of protothecal arthritis and tenosynovitis resulting from hematogenous dissemination. The reported musculoskeletal manifestations of protothecal infections are reviewed.

Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

PubMed

Eller-Vainicher, C; Bassotti, A; Imeraj, A; Cairoli, E; Ulivieri, F M; Cortini, F; Dubini, M; Marinelli, B; Spada, A; Chiodini, I

2016-08-01

The Ehlers-Danlos syndrome is characterized by abnormal connective tissue but bone involvement is debated. We found a reduced BMD and bone quality and increased prevalence of asymptomatic vertebral fractures in eugonadal patients with Ehlers-Danlos syndrome. These findings suggest the need of a bone health evaluation in these patients. The Ehlers-Danlos (EDS) syndrome is characterized by abnormalities of the connective tissue leading to ligamentous laxity and skin and tissue fragility. We evaluated the bone metabolism, bone mineral density (BMD) and bone quality (measured by trabecular bone score, TBS), and the prevalence of vertebral fractures (VFx) in a group of eugonadal adult EDS patients. Fifty consecutive Caucasian patients, aged 30-50 years (36 females, 14 males) with classical or hypermobility EDS and 50 age-, gender-, and body mass index (BMI)-matched control subjects were enrolled. In all subjects' calcium-phosphorous metabolism, bone turnover, BMD at the lumbar spine (LS) and femur (femoral neck, FN and total femur, FT) and TBS by dual-energy X-ray absorptiometry, and the VFx presence by spine radiograph were assessed. Patients showed reduced BMD (Z-scores LS -0.45 ± 1.00, FN -0.56 ± 1.01, FT -0.58 ± 0.92) and TBS (1.299 ± 0.111) and increased prevalence of morphometric VFx (32 %) than controls (Z-scores LS 0.09 ± 1.22, FN 0.01 ± 0.97, FT 0.08 ± 0.89; TBS 1.382 ± 0.176; VFx 8 %, p <0.05 for all comparisons), while vitamin D levels, calcium-phosphorous metabolism, and bone turnover were comparable. Fractured EDS patients showed lower TBS values than non-fractured ones (1.245 ± 0.138 vs 1.325 ± 0.086, p < 0.05), despite comparable BMD. In EDS patients, the VFx presence was significantly associated with TBS even after adjusting for sex, age, BMD, EDS type, and falls frequency. EDS patients have reduced BMD and bone quality (as measured by TBS) and increased prevalence of VFx.

[Nonspecific symptoms of pain syndromes of cervicobrachial localization and their dynamics under the influence of non - pharmacological treatment].

PubMed

Ярошевський, Олександр Анатолійович

2016-01-01

The relevance of this study is caused by the wide spread of musculoskeletal pain, particularly among young people of working age and lack of effectiveness of drug treatment. To study the capability of non-pharmacological treatment in patients with myofascial pain syndrome of cervicobrachial localization considering the influence to nonspecific symptoms of myofascial pain syndrome (autonomic dysfunctions and emotional disorders). We studied 115 patients aged from 18 to 44 years with myofascial pain syndrome of cervicobrachial localization. We used neurological, vertebral- neurological, neuropsychological examination. The severity of pain was assessed by the Visual analog scale for pain (VAS pain). Patients were divided into two groups. The first group of patients (59 individuals) received the complex of manual therapy. The second group of patients (56 individuals) received the complex of manual therapy combined with acupuncture. Non-pharmacological treatment was effective in patients with myofascial pain syndrome of cervicobrachial localization. Application of manual therapy methods in the treatment of myofascial pain syndrome of cervicobrachial localization leading to the reduction of severity of pain, emotional disorders and autonomic dysfunctions. The combination of manual therapy with acupuncture increases the effectiveness of treatment of myofascial pain syndrome of cervicobrachial localization by reducing the emotional disorders and autonomic dysfunctions. Patients with myofascial pain syndrome of cervicobrachial localization need the complex of manual therapy combined with acupuncture. The manual therapy corrects abnormal biomechanical pattern while acupuncture corrects autonomic dysfunctions and emotional disorders.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

PubMed

de Carvalho, Luciana Martins; Ngoumou, Gonza; Park, Ji Woo; Ehmke, Nadja; Deigendesch, Nikolaus; Kitabayashi, Naoki; Melki, Isabelle; Souza, Flávio Falcäo L; Tzschach, Andreas; Nogueira-Barbosa, Marcello H; Ferriani, Virgínia; Louzada-Junior, Paulo; Marques, Wilson; Lourenço, Charles M; Horn, Denise; Kallinich, Tilmann; Stenzel, Werner; Hur, Sun; Rice, Gillian I; Crow, Yanick J

2017-10-01

To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)-stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA (dsRNA) sensor melanoma differentiation-associated protein 5 (MDA-5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells. We recorded an up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and identified a heterozygous gain-of-function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA-5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA-5. These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA-5, and emphasize the value of testing for up-regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy. © 2017, American College of Rheumatology.

Physical Exam Risk Factors for Lower Extremity Injury in High School Athletes: A Systematic Review

PubMed Central

Onate, James A.; Everhart, Joshua S.; Clifton, Daniel R.; Best, Thomas M.; Borchers, James R.; Chaudhari, Ajit M.W.

2016-01-01

Objective A stated goal of the preparticipation physical evaluation (PPE) is to reduce musculoskeletal injury, yet the musculoskeletal portion of the PPE is reportedly of questionable use in assessing lower extremity injury risk in high school-aged athletes. The objectives of this study are: (1) identify clinical assessment tools demonstrated to effectively determine lower extremity injury risk in a prospective setting, and (2) critically assess the methodological quality of prospective lower extremity risk assessment studies that use these tools. Data Sources A systematic search was performed in PubMed, CINAHL, UptoDate, Google Scholar, Cochrane Reviews, and SportDiscus. Inclusion criteria were prospective injury risk assessment studies involving athletes primarily ages 13 to 19 that used screening methods that did not require highly specialized equipment. Methodological quality was evaluated with a modified physiotherapy evidence database (PEDro) scale. Main Results Nine studies were included. The mean modified PEDro score was 6.0/10 (SD, 1.5). Multidirectional balance (odds ratio [OR], 3.0; CI, 1.5–6.1; P < 0.05) and physical maturation status (P < 0.05) were predictive of overall injury risk, knee hyperextension was predictive of anterior cruciate ligament injury (OR, 5.0; CI, 1.2–18.4; P < 0.05), hip external: internal rotator strength ratio of patellofemoral pain syndrome (P = 0.02), and foot posture index of ankle sprain (r = −0.339, P = 0.008). Conclusions Minimal prospective evidence supports or refutes the use of the functional musculoskeletal exam portion of the current PPE to assess lower extremity injury risk in high school athletes. Limited evidence does support inclusion of multidirectional balance assessment and physical maturation status in a musculoskeletal exam as both are generalizable risk factors for lower extremity injury. PMID:26978166

SAPHO Syndrome – A Pictorial Assay

PubMed Central

Khanna, Lokesh; El-khoury, Georges Y.

2012-01-01

SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropathies. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding which can point to its diagnosis. A patient may undergo different diagnostic tests and invasive procedures such as biopsies before a diagnosis is made. Imaging can be helpful by offering a detailed evaluation of the abnormalities. More importantly it helps in revealing subclinical foci of involvement due to the polyostotic nature of the disease. The treatment is mostly nonsurgical. NSAIDS are the first line agents. However multiple new agents are being used for refractory cases. Surgery is reserved to treat complications. PMID:23576940

Role of central sensitization in symptoms beyond muscle pain, and the evaluation of a patient with widespread pain.

PubMed

Yunus, Muhammad B

2007-06-01

Patients with widespread pain or fibromyalgia syndrome have many symptoms besides musculoskeletal pain: e.g. fatigue, sleep difficulties, a swollen feeling in tissues, paresthesia, cognitive dysfunction, dizziness, and symptoms of overlapping conditions such as irritable bowel syndrome, headaches and restless legs syndrome. There is evidence for central sensitization in these conditions, but further studies are needed. Anxiety, stress and depression are also present in 30-45% of patients. Other factors that may contribute to symptoms include endocrine dysfunction, psychosocial distress, trauma, and disrupted sleep. Evaluation of a patient presenting with widespread pain includes history and physical examination to diagnose both fibromyalgia and associated or concomitant conditions. Fibromyalgia should be diagnosed by its own characteristic features. Some patients with otherwise typical symptoms of fibromyalgia may have as few as four to six tender points in clinical practice. Patients with rheumatoid arthritis and systemic lupus erythematosus should be evaluated for fibromyalgia, since 20-30% of them have associated fibromyalgia, requiring a different treatment approach.

The Preparticipation Sports Evaluation.

PubMed

Mirabelli, Mark H; Devine, Mathew J; Singh, Jaskaran; Mendoza, Michael

2015-09-01

The preparticipation physical evaluation is a commonly requested medical visit for amateur and professional athletes of all ages. The overarching goal is to maximize the health of athletes and their safe participation in sports. Although studies have not found that the preparticipation physical evaluation prevents morbidity and mortality associated with sports, it may detect conditions that predispose the athlete to injury or illness and can provide strategies to prevent injuries. Clearance depends on the outcome of the evaluation and the type of sport (and sometimes position or event) in which the athlete participates. All persons undergoing a preparticipation physical evaluation should be questioned about exertional symptoms, presence of a heart murmur, symptoms of Marfan syndrome, and family history of premature serious cardiac conditions or sudden death. The physical examination should focus on the cardiovascular and musculoskeletal systems. U.S. medical and athletic organizations discourage screening electrocardiography and blood and urine testing in asymptomatic patients. Further evaluation should be considered for persons with heart or lung disease, bleeding disorders, musculoskeletal problems, history of concussion, or other neurologic disorders.

Understanding Adolescent Low Back Pain From a Multidimensional Perspective: Implications for Management.

PubMed

O'Sullivan, Peter; Smith, Anne; Beales, Darren; Straker, Leon

2017-10-01

Synopsis Low back pain (LBP) is the leading cause of disability worldwide. It often begins in adolescence, setting a course for later in life. We have tracked the course of LBP in the Raine Study cohort from the age of 14 years into early adulthood. Our work has found that LBP is already prevalent in individuals at 14 years of age and increases throughout adolescence and into early adulthood. It is often comorbid with other musculoskeletal pain. For some adolescents, LBP has little impact; for others, its impact includes care seeking, taking medication, taking time off from school and work, as well as modifying physical and functional activity. Of concern is the increasing prevalence of LBP with impact across adolescence, reaching adult rates by 22 years of age. The predictors of disabling LBP in adolescence are multidimensional. They include female sex, negative back pain beliefs, poor mental health status, somatic complaints, involvement in sports, and altered stress responses. Genetics also plays a role. Ironically, the factors that we have historically thought to be important predictors of LBP, such as "poor" spinal posture, scoliosis, carrying school bags, joint hypermobility, and poor back muscle endurance, are not strong predictors. This challenges our clinical beliefs and highlights that adolescent LBP needs a flexible and targeted multidimensional approach to assessment and management. In most cases, we recommend a cognitive functional approach that challenges negative LBP beliefs, educates adolescents regarding factors associated with their LBP, restores functional capacity where it is impaired, and encourages healthy lifestyle habits. J Orthop Sports Phys Ther 2017;47(10):741-751. Epub 12 Sep 2017. doi:10.2519/jospt.2017.7376.

Motor Cortex Excitability and BDNF Levels in Chronic Musculoskeletal Pain According to Structural Pathology

PubMed Central

Caumo, Wolnei; Deitos, Alícia; Carvalho, Sandra; Leite, Jorge; Carvalho, Fabiana; Dussán-Sarria, Jairo Alberto; Lopes Tarragó, Maria da Graça; Souza, Andressa; Torres, Iraci Lucena da Silva; Fregni, Felipe

2016-01-01

The central sensitization syndrome (CSS) encompasses disorders with overlapping symptoms in a structural pathology spectrum ranging from persistent nociception [e.g., osteoarthritis (OA)] to an absence of tissue injuries such as the one presented in fibromyalgia (FM) and myofascial pain syndrome (MPS). First, we hypothesized that these syndromes present differences in their cortical excitability parameters assessed by transcranial magnetic stimulation (TMS), namely motor evoked potential (MEP), cortical silent period (CSP), short intracortical inhibition (SICI) and short intracortical facilitation (SICF). Second, considering that the presence of tissue injury could be detected by serum neurotrophins, we hypothesized that the spectrum of structural pathology (i.e., from persistent nociception like in OA, to the absence of tissue injury like in FM and MPS), could be detected by differential efficiency of their descending pain inhibitory system, as assessed by the conditioned pain modulation (CPM) paradigm. Third, we explored whether brain-derived neurotrophic factor (BDNF) had an influence on the relationship between motor cortex excitability and structural pathology. This cross-sectional study pooled baseline data from three randomized clinical trials. We included females (n = 114), aged 19–65 years old with disability by chronic pain syndromes (CPS): FM (n = 19), MPS (n = 54), OA (n = 27) and healthy subjects (n = 14). We assessed the serum BDNF, the motor cortex excitability by parameters the TMS measures and the change on numerical pain scale [NPS (0–10)] during CPM-task. The adjusted mean (SD) on the SICI observed in the absence of tissue injury was 56.36% lower than with persistent nociceptive input [0.31(0.18) vs. 0.55 (0.32)], respectively. The BDNF was inversely correlated with the SICI and with the change on NPS (0–10)during CPM-task. These findings suggest greater disinhibition in the motor cortex and the descending pain inhibitory system in FM and MPS than in OA and healthy subjects. Likewise, the inter-hemispheric disinhibition as well as the dysfunction in the descending pain modulatory system is higher in chronic pain without tissue injury compared to a structural lesion. In addition, they suggest that a greater level of serum BDNF may be involved in the processes that mediate the disinhibition of motor cortex excitability, as well as the function of descending inhibitory pain modulation system, independently of the physiopathology mechanism of musculoskeletal pain syndromes. PMID:27471458

Assessing outcome after a modified vaginal wall sling for stress incontinence with intrinsic sphincter deficiency.

PubMed

Costantini, Elisabetta; Mearini, Luigi; Mearini, Ettore; Pajoncini, Cinzia; Guercini, Federico; Bini, Vittorio; Porena, Massimo

2005-01-01

Forty women with stress incontinence, intrinsic sphincter deficiency (ISD), associated or not with urethral hypermobility, a Valsalva leak point pressure (VLLP)<60 cmH(2)0 and a maximum urethral closure pressure<30 cmH(2)0 underwent in situ vaginal wall sling. The main modification to the technique was the use of two small Marlex meshes placed at the lateral edges of the sling. Outcome was assessed by pad use, surgical results and patients' satisfaction. Data of 39/40 patients were analyzed after a minimum follow-up of 1 year. After surgery 30/39 patients were completely dry (no pads), stress incontinence disappeared in 22/39, and 30/39 patients were satisfied with outcome. Reasons for dissatisfaction included recurrence of stress incontinence in three, infections in one and urge incontinence in five. Overall results are good given this category of patients. The vaginal wall sling can be recommended for patients with ISD because the results are promising, it corrects urethral hypermobility and, in our experience, it does not cause obstruction if correctly performed.

Supportive care of women with breast cancer: key concerns and practical solutions.

PubMed

Zdenkowski, Nicholas; Tesson, Stephanie; Lombard, Janine; Lovell, Melanie; Hayes, Sandra; Francis, Prudence A; Dhillon, Haryana M; Boyle, Frances M

2016-11-21

Patients diagnosed with breast cancer may have supportive care needs for many years after diagnosis. High quality multidisciplinary care can help address these needs and reduce the physical and psychological effects of breast cancer and its treatment. Ovarian suppression and extended endocrine therapy benefits are associated with vasomotor, musculoskeletal, sexual and bone density-related side effects. Aromatase inhibitor musculoskeletal syndrome is a common reason for treatment discontinuation. Treatment strategies include education, exercise, simple analgesia and a change to tamoxifen or another aromatase inhibitor. Chemotherapy-induced alopecia may be a constant reminder of breast cancer to the patient, family, friends, acquaintances and even strangers. Alopecia can be prevented in some patients using scalp-cooling technology applied at the time of chemotherapy infusion. The adverse impact of breast cancer diagnosis and treatment on sexual wellbeing is under-reported. Identification of physical and psychological impacts is needed for implementation of treatment strategies. Fear of cancer recurrence reduces quality of life and increases distress, with subsequent impact on role functioning. Identification and multidisciplinary management are key, with referral to psychosocial services recommended where indicated. The benefits of exercise include reduced fatigue, better mental health and reduced musculoskeletal symptoms, and may also include reduced incidence of breast cancer recurrence. Identification and management of unmet supportive care needs are key aspects of breast cancer care, to maximise quality of life and minimise breast cancer recurrence.

Functional resonance magnetic imaging (fMRI) in adolescents with idiopathic musculoskeletal pain: a paradigm of experimental pain.

PubMed

Molina, Juliana; Amaro, Edson; da Rocha, Liana Guerra Sanches; Jorge, Liliana; Santos, Flavia Heloisa; Len, Claudio A

2017-11-14

Studies on functional magnetic resonance imaging (fMRI) have shown that adults with musculoskeletal pain syndromes tolerate smaller amount of pressure (pain) as well as differences in brain activation patterns in areas related to pain.The objective of this study was to evaluate, through fMRI, the brain activation in adolescents with idiopathic musculoskeletal pain (IMP) while performing an experimental paradigm of pain. The study included 10 consecutive adolescents with idiopathic musculoskeletal pain (average age 16.3±1.0) and 10 healthy adolescents age-matched. fMRI exams were performed in a 3 T scanner (Magnetom Trio, Siemens) using an event-related design paradigm. Pressure stimuli were performed in the nondominant hand thumb, divided into two stages, fixed pain and variable pain. The two local Research Ethics Committees (Ethics Committee from Universidade Federal de São Paulo- Brazil, process number 0688/11, on July 1st, 2011 and Ethics Committee from Hospital Israelita Albert Einsten - Brazil, process number 1673, on October 19th, 2011) approved the study. The idiopathic musculoskeletal pain (IMP) group showed a reduced threshold for pain (3.7 kg/cm 2 versus 4.45 kg/cm 2 , p = 0.005). Control group presented increased bain activation when compared to IMP group in the following areas: thalamus (p = 0.00001), precentral gyrus (p = 0.0004) and middle frontal gyrus (p = 0.03). In intragroup analysis, IMP group showed greater brain activation during the unpredictable stimuli of the variable pain stage, especially in the lingual gyrus (p = 0.0001), frontal lobe (p = 0.0001), temporal gyrus (p = 0.0001) and precentral gyrus (p = 0.03), when compared to predictable stimulus of fixed pain. The same intragroup analysis with the control group showed greater activation during the unpredictable stimuli in regions of the precentral gyrus (p = 0.0001), subcallosal area (p = 0.0001), right and left occipital fusiform gyrus (p = 0.0001; (p = 0.0007), middle gyrus (p = 0.01) and precuneus p = (0.02). Adolescents with idiopathic musculoskeletal pain (IMP) tend to request higher brain function in cognitive-emotional areas when interpreting unpredictable sensory-perceptual situations. Therefore, it is assumed that this difference in pain processing in adolescents with IMP make the subjective experience of pain something more intense and unpleasant.

Risk factors and clinical features of text message injuries.

PubMed

Sharan, Deepak; Ajeesh, P S

2012-01-01

Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis.

Three Faces of Fragile X.

PubMed

Lieb-Lundell, Cornelia C E

2016-11-01

Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other 2 syndromes are fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which together are referred to as fragile X-associated disorders (FXDs). Collectively, this group comprises the 3 faces of fragile X. Even though the 3 conditions share a common genetic defect, each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains, and, for FXTAS, a late-onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXDs is lacking. This perspective article will discuss the genetic basis of FMR1 gene dysfunction and describe health conditions related to this mutation, which have a range of expressions within a family. Physical therapy concerns and possible assessment and intervention strategies will be introduced. Understanding the intergenerational effect of the FMR1 mutation with potential life-span expression is a key component to identifying and treating the health conditions related to this specific genetic condition. © 2016 American Physical Therapy Association.

Biomechanical Effects of a Dynamic Topping off Instrumentation in a Long Rigid Pedicle Screw Construct.

PubMed

Reichl, Michael; Kueny, Rebecca A; Danyali, Reza; Obid, Peter; Übeyli, Hüseyin; Püschel, Klaus; Morlock, Michael M; Huber, Gerd; Niemeyer, Thomas; Richter, Alexander

2017-05-01

Biomechanical ex vivo study. To determine if topping off instrumentation can reduce the hypermobility in the adjacent segments when compared with the classic rigid spinal instrumentation. Long rigid instrumentation might increase the mechanical load in the adjacent segments, the resulting hypermobility, and the risk for adjacent segment disease. Topping off instrumentation intends to reduce the hypermobility at the adjacent level by more evenly distributing segmental motion and, thereby, potentially mitigating adjacent level disease. Eight human spines (Th12-L5) were divided into 2 groups. In the rigid group, a 3-segment metal rod instrumentation (L2-L5) was performed. The hybrid group included a 2-segment metal rod instrumentation (L3-L5) with a dynamic topping off instrumentation (L2-L3). Each specimen was tested consecutively in 3 different configurations: native (N=8), 2-segment rod instrumentation (L3-L5, N=8), 3-segment instrumentation (rigid: N=4, hybrid: N=4). For each configuration the range of motion (ROM) of the whole spine and each level was measured by a motion capture system during 5 cycles of extension-flexion (angle controlled to ±5 degrees, 0.1 Hz frequency, no preload). In comparison with the intact spine, both the rigid 3-segment instrumentation and the hybrid instrumentation significantly reduced the ROM in the instrumented segments (L2-L5) while increasing the movement in the adjacent segment L1-L2 (P=0.002, η=0.82) and in Th12-L1 (P<0.001, η=0.90). There were no ROM differences between the rigid and hybrid instrumentation in all segments. Introducing the dynamic topping off did not impart any significant difference in the segmental motion when compared with the rigid instrumentation. Therefore, the current biomechanical study could not show a benefit of using this specific topping off instrumentation to solve the problem of adjacent segment disease.

Differentiating lipedema and Dercum's disease.

PubMed

Beltran, K; Herbst, K L

2017-02-01

People with lipedema or Dercum's disease (DD) can have a similar distribution of excess painful nodular subcutaneous adipose tissue (SAT), making them difficult to differentiate. Case series of 94 patients with DD, 160 with lipedema and 18 with both diagnoses (Lip+DD) from a single clinic in an academic medical center to improve identification and differentiation of these disorders by comparison of clinical findings, prevalence of type 2 diabetes (DM2), hypermobility by the Beighton score and assessment of a marker of inflammation, Total complement activity (CH50). Differences between groups were by Student's t-test with α of 0.05. The Lipedema Group had significantly greater weight, body mass index (BMI), gynoid distributed nodular SAT and fibrotic and heavy tissue than the DD Group. Hypermobility was significantly higher in the Lipedema (58±0.5%) than DD Group (23±0.4%; P<0.0001). DM2 was significantly greater in the DD (16±0.2%; P=0.0007) than the Lipedema Group (6±0.2%). Average pain by an analog scale was significantly higher in the DD (6±2.5%) than the Lipedema Group (4±2.1%; P<0.0001). Fatigue and swelling were common in both groups. Easy bruising was more common in the Lipedema Group, whereas abdominal pain, shortness of breath, fibromyalgia, migraines and lipomas were more prevalent in the DD Group. The percentage of patients with elevated CH50 was significantly positive in both groups. The significantly lower prevalence of DM2 in people with lipedema compared with DD may be due to the greater amount of gynoid fat known to be protective against metabolic disorders. The high percentage of hypermobility in lipedema patients indicates that it may be a comorbid condition. The location of fat, high average daily pain, presence of lipomas and comorbid painful disorders in DD patients may help differentiate from lipedema.

Churg Strauss syndrome associated with montelukast--case report.

PubMed

Man, Milena Adina; Alexandrescu, Dana; Pop, Monica; Trofor, Antigona

2012-01-01

Churg-Strauss Syndrome (allergic granulomatous angiitis) is a rare systemic and pulmonary vasculitis. We report the case of a 62 years old female, non-smoker, with a 20 years history of moderate persistent asthma treated with Salmeterol/Fluticasone 50/500 microg bid for 5 years and supplemental Montelukast in the past 5 months. The patient was admitted in our hospital with fever, malaise, sensory deficits in the lower extremities, diffuse musculoskeletal and thoracic pain. Blood eosinophil was 38% of her total WBC, thoracic computed tomography evidenced ill-defined groundglass attenuation predominantly involving the lateral segment of the middle lobe. Pulmonary infiltrates with eosinophilia can be used to define eosinophilic lung diseases. We made the differential diagnosis of eosinophilic lung disease: acute or chronic eosinophilic pneumonias, allergic bronchopulmonary aspergillosis, Loffler syndrome, Churg-Strauss syndrome, bronchocentric granulomatousis, idiopathic hypereosinophilic syndromes. Bronchoalveolar lavage showed 14.6% eosinophils. Few days after hospital admission patient experienced nausea, vomiting and diarrhea. She underwent a digestive endoscopy, which showed eosinophilic enteritis according to colon biopsy. Nasal mucosa biopsy found granulomas. Anti-neutrophil cytoplasmatic antibody (ANCA) was positive at 1:20. She displayed more than four American College of Rheumatology (ACR) criteria for Churg-Strauss Syndrome (developed while she was receiving montelukast therapy). Discontinuation of Montelukast and association of oral prednisone (1 mg/kgc) induced rapid improvement of symptoms and rapid decrease of peripheric eosinophils (72 hours). This case report illustrates the importance of early diagnosis of Churg-Strauss syndrome and the possible pathogenic link between leukotriene receptor antagonist use and CSS development.

Anatomical variations within the deep posterior compartment of the leg and important clinical consequences.

PubMed

Hislop, M; Tierney, P

2004-09-01

The management of musculoskeletal conditions makes up a large part of a sports medicine practitioner's practice. A thorough knowledge of anatomy is an essential component of the armament necessary to decipher the large number of potential conditions that may confront these practitioners. To cloud the issue further, anatomical variations may be present, such as supernumerary muscles, thickened fascial bands or variant courses of nerves and blood vessels, which can themselves manifest as acute or chronic conditions that lead to significant morbidity or limitation of activity. There are a number of contentious areas within the literature surrounding the anatomy of the leg, particularly involving the deep posterior compartment. Conditions such as chronic exertional compartment syndrome, tibial periostitis (shin splints), peripheral nerve entrapment and tarsal tunnel syndrome may all be affected by subtle anatomical variations. This paper primarily focuses on the deep posterior compartment of the leg and uses the gross dissection of cadaveric specimens to describe definitively the anatomy of the deep posterior compartment. Variant fascial attachments of flexor digitorum longus are documented and potential clinical sequelae such as chronic exertional compartment syndrome and tarsal tunnel syndrome are discussed.

Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

PubMed Central

Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

2015-01-01

Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

Injectable Nanocomposite Analgesic Delivery System for Musculoskeletal Pain Management.

PubMed

Khanal, Manakamana; Gohil, Shalini V; Kuyinu, Emmanuel; Kan, Ho-Man; Knight, Brittany E; Baumbauer, Kyle M; Lo, Kevin W-H; Walker, Joseph; Laurencin, Cato T; Nair, Lakshmi S

2018-05-24

Musculoskeletal pain is a major health issue which results from surgical procedures (i.e. total knee and/ or hip replacements and rotator cuff repairs), as well as from non-surgical conditions (i.e. sympathetically-mediated pain syndrome and occipital neuralgia). Local anesthetics, opioids or corticosteroids are currently used for the pain management of musculoskeletal conditions. Even though local anesthetics are highly preferred, the need for multiple administration presents significant disadvantages. Development of unique delivery systems that can deliver local anesthetics at the injection site for prolonged time could significantly enhance the therapeutic efficacy and patient comfort. The goal of the present study is to evaluate the efficacy of an injectable local anesthetic nanocomposite carrier to provide sustained analgesic effect. The nanocomposite carrier was developed by encapsulating ropivacaine, a local anesthetic, in lipid nanocapsules (LNC-Rop), and incorporating the nanocapsules in enzymatically crosslinked glycol chitosan (0.3GC) hydrogels. Cryo Scanning Electron Microscopic (Cryo SEM) images showed the ability to distribute the LNCs within the hydrogel without adversely affecting their morphology. The study demonstrated the feasibility to achieve sustained release of lipophilic molecules from the nanocomposite carrier in vitro and in vivo. A rat chronic constriction injury (CCI) pain model was used to evaluate the efficacy of the nanocomposite carrier using thermal paw withdrawal latency (TWL). The nanocomposite carriers loaded with ropivacaine and dexamethasone showed significant improvement in pain response compared to the control groups for at least 7 days. The study demonstrated the clinical potential of these nanocomposite carriers for post-operative and neuropathic pain. Acute or chronic pain associated with musculoskeletal conditions is considered a major health issue, with healthcare costs totaling several billion dollars. The opioid crisis presents a pressing clinical need to develop alternative and effective approaches to treat musculoskeletal pain. The goal of this study was to develop a long-acting injectable anesthetic formulation which can sustain a local anesthetic effect for a prolonged time. This in turn could increase the quality of life and rehabilitation outcome of patients, and decrease opioid consumption. The developed injectable nanocomposite demonstrated the feasibility to achieve prolonged pain relief in a rat chronic constriction injury (CCI) model. Copyright © 2018. Published by Elsevier Ltd.

Amputations in natural disasters and mass casualties: staged approach.

PubMed

Wolfson, Nikolaj

2012-10-01

Amputation is a commonly performed procedure during natural disasters and mass casualties related to industrial accidents and military conflicts where large civilian populations are subjected to severe musculoskeletal trauma. Crush injuries and crush syndrome, an often-overwhelming number of casualties, delayed presentations, regional cultural and other factors, all can mandate a surgical approach to amputation that is different than that typically used under non-disaster conditions. The following article will review the subject of amputation during natural disasters and mass casualties with emphasis on a staged approach to minimise post-surgical complications, especially infection.

[Young musicians: do they need prevention ?].

PubMed

Schlumpf, U

2013-02-13

Recent cross-sectional studies in children of most music schools show that there is a continuously increasing development of musculoskeletal symptoms and disorders due to an asymmetry of posture which is given by the kind of the musical instrument played by the pupils. An ergonomic adaptation of music instruments according to body size, but also specific muscular training, a consequent warm up before playing and rigorous time management can help to avoid these overuse or repetitive strain syndromes that often interfere with the ability to play the instrument as usual.

Similarities in Acquired Factors Related to Postmenopausal Osteoporosis and Sarcopenia

PubMed Central

Sirola, Joonas; Kröger, Heikki

2011-01-01

Postmenopausal population is at increased risk of musculoskeletal impairments. Sarcopenia and osteoporosis are associated with significant morbidity and social and health-care costs. These two conditions are uniquely linked with similarities in pathophysiology and diagnostic methods. Uniform diagnostic criteria for sarcopenia are still evolving. Postmenopausal sarcopenia and osteoporosis share many environmental risk- and preventive factors. Moreover, geriatric frailty syndrome may result from interaction of osteoporosis and sarcopenia and may lead to increased mortality. The present paper reviews the factors in evolution of postmenopausal sarcopenia and osteoporosis. PMID:21904688

Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics.

PubMed

Domany, Keren Armoni; Hantragool, Sumalee; Smith, David F; Xu, Yuanfang; Hossain, Monir; Simakajornboon, Narong

2018-04-15

The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics. This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Demographic information and medical history were collected, and polysomnography tests were reviewed. Questionnaires completed during previous clinic visits, including the Pediatrics Sleep Questionnaire (PSQ), Epworth Sleepiness Scale (ESS), and Pediatric Quality of Life Inventory (PedsQL), were also evaluated. Sixty-five patients with EDS-hypermobility type were included. The mean age was 13.15 ± 3.9 years. There were 68% of patients who were female, and 91% of patients were Caucasian. The mean follow-up period was 1.14 ± 1.55 years. Common sleep diagnoses included insomnia (n = 14, 22%), obstructive sleep apnea (OSA) (n = 17, 26%), periodic limb movement disorder (PLMD) (n = 11, 17%), and hypersomnia (n = 10, 15%). In addition, 65% required pharmacologic treatment and 29% were referred to behavioral sleep medicine. For OSA, two patients required continuous positive airway pressure. A significant improvement was observed in the PSQ, ESS, and PedsQL scores during follow-up visits after treatment (n = 34; P = .0004, 0.03, and 0.01, respectively). There is a high prevalence of sleep disorders, including OSA, insomnia, PLMD, and hypersomnia in children with EDS referred to sleep clinics. Specific management can improve quality of life and questionnaire scores of this patient population. Our study emphasizes the importance of screening for sleep disorders in children with EDS. © 2018 American Academy of Sleep Medicine.

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

PubMed

Ritter, Alyssa; Atzinger, Carrie; Hays, Brandon; James, Jeanne; Shikany, Amy; Neilson, Derek; Martin, Lisa; Weaver, Kathryn Nicole

2017-06-01

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented. Aortic root z-scores were calculated using two established formulas based on age (Boston or Devereux). Overall prevalence of AoD and prevalence by age were calculated and longitudinal regression was performed. The prevalence of AoD with a z-score ≥ 2.0 was 14.2% (46/325) and with a z-score of ≥3.0 was 5.5% (18/325). No significant increases in z-score were seen over time for patients with multiple echocardiograms. Participants under the age of 15 years had an average decline of 0.1 standard deviations (SDs)/year. No significant change was found after 15 of age. Between the ages of 15 and 21 years, Boston z-scores were 0.96 higher than Devereux z-scores. The nearly 1 z-score unit difference between formulas indicates caution prior to diagnosing AoD in patients with hEDS. In light of the low prevalence and lack of progression of AoD, routine echocardiograms may not be warranted for pediatric patients with hEDS. © 2017 Wiley Periodicals, Inc.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

PubMed

Gistelinck, Charlotte; Witten, Paul Eckhard; Huysseune, Ann; Symoens, Sofie; Malfait, Fransiska; Larionova, Daria; Simoens, Pascal; Dierick, Manuel; Van Hoorebeke, Luc; De Paepe, Anne; Kwon, Ronald Y; Weis, MaryAnn; Eyre, David R; Willaert, Andy; Coucke, Paul J

2016-11-01

Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI). BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in fibrillar collagen telopeptides. This hydroxylation directs crosslinking of collagen fibrils in the extracellular matrix, which is necessary to provide stability and tensile integrity to the collagen fibrils. To further elucidate the function of LH2 in vertebrate skeletal development, we created a zebrafish model harboring a homozygous plod2 nonsense mutation resulting in reduced telopeptide hydroxylation and crosslinking of bone type I collagen. Adult plod2 mutants present with a shortened body axis and severe skeletal abnormalities with evidence of bone fragility and fractures. The vertebral column of plod2 mutants is short and scoliotic with compressed vertebrae that show excessive bone formation at the vertebral end plates, and increased tissue mineral density in the vertebral centra. The muscle fibers of mutant zebrafish have a reduced diameter near the horizontal myoseptum. The endomysium, a layer of connective tissue ensheathing the individual muscle fibers, is enlarged. Transmission electron microscopy of mutant vertebral bone shows type I collagen fibrils that are less organized with loss of the typical plywood-like structure. In conclusion, plod2 mutant zebrafish show molecular and tissue abnormalities in the musculoskeletal system that are concordant with clinical findings in BS patients. Therefore, the plod2 zebrafish mutant is a promising model for the elucidation of the underlying pathogenetic mechanisms leading to BS and the development of novel therapeutic avenues in this syndrome. © 2016 American Society for Bone and Mineral Research. © 2016 American Society for Bone and Mineral Research.

Hormonal modulation of connective tissue homeostasis and sex differences in risk for osteoarthritis of the knee

PubMed Central

2013-01-01

Young female athletes experience a higher incidence of ligament injuries than their male counterparts, females experience a higher incidence of joint hypermobility syndrome (a risk factor for osteoarthritis development), and post-menopausal females experience a higher prevalence of osteoarthritis than age-matched males. These observations indicate that fluctuating sex hormone levels in young females and loss of ovarian sex hormone production due to menopause likely contribute to observed sex differences in knee joint function and risk for loss of function. In studies of osteoarthritis, however, there is a general lack of appreciation for the heterogeneity of hormonal control in both women and men. Progress in this field is limited by the relatively few preclinical osteoarthritis models, and that most of the work with established models uses only male animals. To elucidate sex differences in osteoarthritis, it is important to examine sex hormone mechanisms in cells from knee tissues and the sexual dimorphism in the role of inflammation at the cell, tissue, and organ levels. There is a need to determine if the risk for loss of knee function and integrity in females is restricted to only the knee or if sex-specific changes in other tissues play a role. This paper discusses these gaps in knowledge and suggests remedies. PMID:23374322

Ehlers-Danlos syndrome, classical type.

PubMed

Bowen, Jessica M; Sobey, Glenda J; Burrows, Nigel P; Colombi, Marina; Lavallee, Mark E; Malfait, Fransiska; Francomano, Clair A

2017-03-01

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. © 2017 Wiley Periodicals, Inc.

Association between hyperflexibility of the thumb and an unexplained bleeding tendency: is it a rule of thumb?

PubMed

Kaplinsky, C; Kenet, G; Seligsohn, U; Rechavi, G

1998-05-01

A bleeding tendency manifested by petechiae and ecchymoses is one of the most common causes for referral of patients to haematology clinics. Vessel wall pathology is not usually considered to be a cause for deranged haemostasis, although coexistence of increased capillary fragility and joint hypermobility have been reported. We determined the frequency of thumb hyperextensibility and scored the findings in a series of 44 patients referred because of ecchymoses and petechiae, as well as 261 control children and their mothers. All 44 patients had normal coagulation studies. Thumb flexibility score was +4 in 30 patients, +3 in eight patients, +2 in five patients and +1 in one of the index patients. In the control group, only one of 261 had a +4, and three had a +3 score, and two of 260 mothers had a +4 score. Ecchymoses were not observed in any of these subjects, nor in the +1 patients. Based on clinical presentation and normal coagulation studies, we suggest that our patients had an underlying subtype of Ehlers-Danlos syndrome. In view of the dramatically high occurrence of thumb hyperextensibility in patients with unexplained mild bleeding tendency, costly haemostatic and coagulation studies on such patients may not be necessary.

Virtual rehabilitation--benefits and challenges.

PubMed

Burdea, G C

2003-01-01

To discuss the advantages and disadvantages of rehabilitation applications of virtual reality. VR can be used as an enhancement to conventional therapy for patients with conditions ranging from musculoskeletal problems, to stroke-induced paralysis, to cognitive deficits. This approach is called "VR-augmented rehabilitation." Alternately, VR can replace conventional interventions altogether, in which case the rehabilitation is "VR-based." If the intervention is done at a distance, then it is called "telerehabilitation." Simulation exercises for post-stroke patients have been developed using a "teacher object" approach or a video game approach. Simulations for musculo-skeletal patients use virtual replicas of rehabilitation devices (such as rubber ball, power putty, peg board). Phobia-inducing virtual environments are prescribed for patients with cognitive deficits. VR-augmented rehabilitation has been shown effective for stroke patients in the chronic phase of the disease. VR-based rehabilitation has been improving patients with fear of flying, Vietnam syndrome, fear of heights, and chronic stroke patients. Telerehabilitation interventions using VR have improved musculo-skeletal and post-stroke patients, however less data is available at this time. Virtual reality presents significant advantages when applied to rehabilitation of patients with varied conditions. These advantages include patient motivation, adaptability and variability based on patient baseline, transparent data storage, online remote data access, economy of scale, reduced medical costs. Challenges in VR use for rehabilitation relate to lack of computer skills on the part of therapists, lack of support infrastructure, expensive equipment (initially), inadequate communication infrastructure (for telerehabilitation in rural areas), and patient safety concerns.

Fear of movement modulates the feedforward motor control of the affected limb in complex regional pain syndrome (CRPS): A single-case study.

PubMed

Osumi, Michihiro; Sumitani, Masahiko; Otake, Yuko; Morioka, Shu

2018-01-01

Pain-related fear can exacerbate physical disability and pathological pain in complex regional pain syndrome (CRPS) patients. We conducted a kinematic analysis of grasping movements with a pediatric patient suffering from CRPS in an upper limb to investigate how pain-related fear affects motor control. Using a three-dimensional measurement system, we recorded the patient's movement while grasping three vertical bars of different diameters (thin, middle, thick) with the affected and intact hands. We analyzed the maximum grasp distance between the thumb and the index finger (MGD), the peak velocity of the grasp movement (PV), and the time required for the finger opening phase (TOP) and closing phase (TCP). Consequently, the MGD and PV of grasp movements in the affected hand were significantly smaller than those of the intact hand when grasping the middle and thick bars. This might reflect pain-related fear against visual information of the target size which evokes sensation of difficulty in opening fingers widely to grasp the middle and thick bars. Although MGD and PV increased with target size, the TOP was longer in the affected hand when grasping the thick bar. These findings indicate that pain-related fear impairs motor commands that are sent to the musculoskeletal system, subsequently disrupting executed movements and their sensory feedback. Using kinematic analysis, we objectively demonstrated that pain-related fear affects the process of sending motor commands towards the musculoskeletal system in the CRPS-affected hand, providing a possible explanatory model of pathological pain. Copyright © 2017 Elsevier Ltd. All rights reserved.

Childhood-onset eosinophilic granulomatosis with polyangiitis (formerly Churg-Strauss syndrome): a contemporary single-center cohort.

PubMed

Gendelman, Samantha; Zeft, Andrew; Spalding, Steven J

2013-06-01

To date only 38 cases of childhood-onset eosinophilic granulomatosis with polyangiitis (cEGPA; formerly Churg-Strauss syndrome) have been reported. Additional patients with cEGPA could enhance the understanding of this rare and life-threatening condition. Our objectives were (1) to determine the frequency of specific organ system involvement; (2) to examine initial therapeutic regimen; and (3) to document disease and therapy-related morbidity in a contemporary cohort of patients with cEGPA. Retrospective review of patients evaluated at the Cleveland Clinic between 2003 and 2011 who met either American College of Rheumatology or Lanham criteria for EGPA and whose age was < 18 years at symptom onset. Nine patients (8 female; 7 white) were identified. Median age at onset of rhinitis/asthma symptom was 13 years and median age at diagnosis of cEGPA was 15 years. All patients demonstrated eosinophilia, upper airway disease (allergic rhinitis, chronic sinusitis, and/or nasal polyps), and pulmonary involvement. Other frequently involved organ systems included musculoskeletal (67%), gastrointestinal (67%), cutaneous (67%), neurologic (56%), and cardiac (44%). Antineutrophil cytoplasmic antibody (ANCA) serologies were negative in all patients. The medications used most frequently for initial therapy included oral (44%) or intravenous corticosteroids (56%) and azathioprine (67%). Disease or therapeutic complications occurred in half of the cohort and included heart failure, stroke, and sequela from longterm, high-dose steroids. Eosinophilia, in combination with upper airway, pulmonary, musculoskeletal, neurologic, and cardiac manifestations, is frequently observed in cEGPA. ANCA titers are often negative. Steroids are the mainstay of initial therapy but steroid-related side effects occur regularly.

[Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review].

PubMed

Guerra-Jasso, J J; Valcarce-León, J A; Quíntela-Núñez-Del Prado, H M

2017-01-01

Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome. Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B). The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals economic possibilities.

Common Occupational Disorders: Asthma, COPD, Dermatitis, and Musculoskeletal Disorders.

PubMed

Bepko, Jennifer; Mansalis, Katherine

2016-06-15

An occupational illness is an event or exposure that occurs in the workplace that causes or contributes to a condition or worsens a preexisting condition. If an occupational disorder is suspected, a directed history should be taken with particular attention to establishing a temporal relationship of symptoms and exposure at work. Occupational asthma is the most prevalent occupational lung disorder in industrialized countries and presents with classic asthma symptoms (cough, difficulty breathing, chest tightness, wheezing). Occupational chronic obstructive pulmonary disease has been linked with exposure to nonspecific vapors, gases, dusts, fumes, and cigarette smoke. Occupational contact dermatitis is the most common dermal exposure. It can be caused by exposure to a variety of agents, including primary irritants or sensitizers, physical agents, mechanical trauma, and biologic agents. Occupational musculoskeletal disorders include many common repetitive injuries such as carpal tunnel syndrome and medial or lateral epicondylitis. Treatment of occupational disorders is generally the same as for nonoccupational disorders. Ideally, the exposure should be controlled to protect the worker. The impact of an occupational injury reaches beyond lost wages and can have a negative impact on quality of life.

NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

PubMed

Sobolewska, Bianka; Angermair, Eva; Deuter, Christoph; Doycheva, Deshka; Kuemmerle-Deschner, Jasmin; Zierhut, Manfred

2016-06-01

Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms. In a retrospective observational cohort study, consecutive family members were screened for the presence of the NLRP3 mutation. Patients underwent standardized clinical, laboratory, and ophthalmological assessments. The genotype-specific risk of ophthalmological findings and other organ symptoms was determined. Twenty-nine patients were clinically affected. The A439V mutation encoded by exon 3 of the NLRP3 gene was found in 15 of 37 family members (41%). The most common clinical features were musculoskeletal symptoms, headaches, and ophthalmological symptoms. The mutation-positive patients were characterized by more frequent skin rashes, ocular symptoms, arthralgia, arthritis, and severe Muckle-Wells syndrome (MWS) Disease Activity Score. Rosacea was diagnosed in 8 patients. The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. Skin rash and eye diseases, such as conjunctivitis and uveitis, were positively correlated with this mutation.

Diurnal and twenty-four hour patterning of human diseases: acute and chronic common and uncommon medical conditions.

PubMed

Smolensky, Michael H; Portaluppi, Francesco; Manfredini, Roberto; Hermida, Ramon C; Tiseo, Ruana; Sackett-Lundeen, Linda L; Haus, Erhard L

2015-06-01

The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24 h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; neural: frontal, parietal, temporal, and occipital lobe seizures, Parkinson's and Alzheimer's disease, hereditary progressive dystonia, and pain (cancer, post-surgical, diabetic neuropathic and foot ulcer, tooth caries, burning mouth and temporomandibular syndromes, fibromyalgia, sciatica, intervertebral vacuum phenomenon, multiple sclerosis muscle spasm, and migraine, tension, cluster, hypnic, and paroxysmal hemicranial headache); renal: colic and nocturnal enuresis and polyuria; ocular: bulbar conjunctival redness, keratoconjunctivitis sicca, intraocular pressure and anterior ischemic optic neuropathy, and recurrent corneal erosion syndrome; psychiatric/behavioral: major and seasonal affective depressive disorders, bipolar disorder, parasuicide and suicide, dementia-associated agitation, and addictive alcohol, tobacco, and heroin cravings and withdrawal phenomena; plus autoimmune and musculoskeletal: rheumatoid arthritis, osteoarthritis, axial spondylarthritis, gout, Sjögren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 h patterns of human pathophysiology informs research of their underlying circadian and other endogenous mechanisms, external temporal triggers, and more effective patient care entailing clinical chronopreventive and chronotherapeutic strategies. Copyright © 2014 Elsevier Ltd. All rights reserved.

Carpal Tunnel Syndrome Associated with Oral Bisphosphonates. A Population-Based Cohort Study

PubMed Central

Carvajal, Alfonso; Martín Arias, Luis H.; Sáinz, María; Escudero, Antonio; Fierro, Inmaculada; Sauzet, Odile; Cornelius, Victoria R.; Molokhia, Mariam

2016-01-01

Background Bisphosphonates are widely used to prevent osteoporotic fractures. Some severe musculoskeletal reactions have been described with this medication; among them, some cases of carpal tunnel syndrome. Thus, the aim of this study was to explore whether bisphosphonates may be associated with this syndrome. Methods A cohort study was conducted to compare exposed to unexposed women; the exposed group was that composed of women having received at least one prescription of an oral bisphosphonate. For the purpose, we used information from The Health Improvement Network (THIN) database. The outcome of interest was defined as those women diagnosed with carpal tunnel syndrome. A survival analysis was performed; the Cox proportional hazard model was used to calculate hazard ratios and 95% confidence intervals, and to adjust for identified confounding variables. Results Out of a sample of 59,475 women older than 51 years, 19,825 were treated with bisphosphonates during the period studied. No differences in age distribution or mean follow-up time were observed between the two groups in comparison. Overall, there were 572 women diagnosed with carpal tunnel syndrome, 242 (1.2%) in the group exposed to bisphosphonates, and 330 (0.8%) in the unexposed. An adjusted hazard ratio of developing carpal tunnel syndrome of 1.38 (95%CI, 1.15–1.64) was found for women exposed to bisphosphonates; no significant changes in the hazard ratios were found when considering different levels of bisphosphonate exposure. Conclusions An increased risk of carpal tunnel syndrome is associated with the use of bisphosphonates in postmenopausal women. PMID:26765346

The Relationship between Shoe Fitting and Foot Health of Persons with Down Syndrome: A Case Control Study.

PubMed

Calvo-Lobo, César; Ramos García, Ana; Losa Iglesias, Marta Elena; López-López, Daniel; Rodríguez-Sanz, David; Romero-Morales, Carlos; Becerro-de-Bengoa-Vallejo, Ricardo

2018-05-14

Background : Down syndrome is the most common chromosomal abnormality and a cause of intellectual disability. It is also associated with orthopaedic and musculoskeletal problems of the locomotive apparatus, especially of the feet. These problems are believed to have a harmful effect on health, social functioning, and mobility. In addition, these persons generally don't have access to podiatric health services, even when their foot problems are well known, because of limited access to healthcare facilities. The goal of our research was to evaluate and compare the foot health status of study participants with and without Down syndrome and to determine whether inadequate footwear is being used with normalized reference values. Methods : A total of 105 participants with and without Down syndrome, with a mean age of 35.71 (SD = 12.93) years, were enrolled in the study. They self-reported demographic data and their clinical characteristic data were recorded. Measurements of their foot and shoe fitting were taken at all stages of the research process. Ninety-two percent of the participants with Down syndrome had foot problems. Results: Only 12 (24%) participants with Down syndrome used bilateral shoes that met the requirements of their feet compared to their controls (50 participants, 90.9% for the right foot; 46 participants, 83.6% for the left foot). Participants with Down syndrome presented statistically significant differences with respect to controls and wore incorrectly sized shoe. Conclusions : Evaluation of foot length and width may prevent development of foot deformities, as well as to improve general health.

Prevalence of musculoskeletal disorders among immigrant Latino farmworkers and non-farmworkers in North Carolina

PubMed Central

Mora, Dana C.; Miles, Christopher M.; Chen, Haiying; Quandt, Sara A.; Summers, Phillip; Arcury, Thomas A.

2015-01-01

Background This manuscript evaluates the variability in the prevalence of epicondylitis, rotator cuff syndrome, low back pain, and lower extremity pathology among immigrant Latino farmworkers and non-farmworkers. Methods Data were collected from a study among 272 farmworkers and non-farmworkers. Participants were recruited in eastern and central North Carolina. A physical exam was conducted by trained physicians. Results Prevalence of MSDs among Latino manual workers is high compared other workers in similar occupations. Non-farmworkers (49%) had a higher prevalence of MSDs than farmworkers (35%). Epicondylitis (20.2%) and rotator cuff syndrome (19.1%) were most prevalent. Age was found to be significant among those who had epicondylitis (AOR = 1.04) and lower extremity pathology (AOR = 1.07). Conclusions Latino immigrant manual workers have high prevalence of MSDs. Further studies are needed to identify possible factors that make these populations more vulnerable to MSDs. PMID:25454715

A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome

PubMed Central

Lee, Kang Won; Kim, Kyoung Jin; Kim, Sang Hyun; Kim, Hee Young; Kim, Byung-Jo; Kim, Sin Gon; Choi, Dong Seop

2015-01-01

Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy), proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea. PMID:26394732

Post-Ebola Syndrome, Sierra Leone.

PubMed

Scott, Janet T; Sesay, Foday R; Massaquoi, Thomas A; Idriss, Baimba R; Sahr, Foday; Semple, Malcolm G

2016-04-01

Thousands of persons have survived Ebola virus disease. Almost all survivors describe symptoms that persist or develop after hospital discharge. A cross-sectional survey of the symptoms of all survivors from the Ebola treatment unit (ETU) at 34th Regimental Military Hospital, Freetown, Sierra Leone (MH34), was conducted after discharge at their initial follow-up appointment within 3 weeks after their second negative PCR result. From its opening on December 1, 2014, through March 31, 2015, the MH34 ETU treated 84 persons (8-70 years of age) with PCR-confirmed Ebola virus disease, of whom 44 survived. Survivors reported musculoskeletal pain (70%), headache (48%), and ocular problems (14%). Those who reported headache had had lower admission cycle threshold Ebola PCR than did those who did not (p<0.03). This complete survivor cohort from 1 ETU enables analysis of the proportion of symptoms of post-Ebola syndrome. The Ebola epidemic is waning, but the effects of the disease will remain.

Juvenile Fibromyalgia: A Multidisciplinary Approach to Treatment.

PubMed

Tesher, Melissa S

2015-06-01

A 14-year-old boy presented with months of severe widespread musculoskeletal pain. He was profoundly fatigued and unable to attend school. Laboratory evaluation, including complete blood count, comprehensive metabolic panel, inflammatory markers, and thyroid function, was unrevealing. Physical examination was also normal except for multiple tender points. The patient was diagnosed with juvenile primary fibromyalgia syndrome and referred for multidisciplinary treatment including physical therapy, exercise, and counseling, and his daily functioning gradually improves. Juvenile fibromyalgia is a complex syndrome that often severely limits patients' activities and can impede normal adolescent development. Effective treatment requires an understanding of the biologic, psychologic, and social factors contributing to the perpetuation of chronic pain. The author reviews the diagnostic criteria, pathophysiology, and treatment of juvenile fibromyalgia. Medications, particularly antidepressants and anticonvulsants, can be useful adjuncts to therapy. However, multimodal pain management including intensive physical therapy, exercise, counseling, and sleep hygiene is most effective in treating fibromyalgia. Copyright 2015, SLACK Incorporated.

Paleoneurology: neurodegenerative diseases are age-related diseases of specific brain regions recently developed by Homo sapiens.

PubMed

Ghika, J

2008-11-01

Bipedal locomotion and fine motility of hand and larynx of humans introduced musculoskeletal adaptations, new pyramidal, corticostriatal, corticobulbar, nigrostriatal, and cerebellar pathways and expansions of prefrontal, cingular, parieto-temporal and occipital cortices with derived new brain capabilities. All selectively degenerate in aged homo sapiens following 16 syndromic presentations: (1) Parkinsonism: nigrostriatal control for fast automatic movements of hand, larynx, bipedal posture and gait ("simian gait and hand"). (2) Frontal (highest level) gait disorders (lower body parkinsonism, gait apraxia, retropulsion): prefrontostriatal executive control of bipedal locomotion. (3) ataxia: new synergistic coordination of bipedal gait and fine motility. (4) Dyskinesias (chorea, dystonia, tremor...): intrusions of simian basal ganglia motor subroutines. (5) motoneuron diseases: new proximo-distal and bulbar motoneurones, preserving older ones (oculomotor, abdominal...). (6) Archaic reflexes: prefrontal disinhibition of old mother/tree-climbing-oriented reflexes (sucking, grasping, Babinski/triple retraction, gegenhalten), group alarms (laughter, crying, yawning, grunting...) or grooming (tremor=scratching). (7) Dysautonomia: contextual regulation (orthostatism...). (8) REM sleep disorders of new cortical functions. (9) Corticobasal syndrome: melokinetic control of hand prehension-manipulation and language (retrocession to simian patterns). (10) Frontal/temporal lobe degeneration: medial-orbitofrontal behavioural variant: self monitoring of internal needs and social context: apathy, loss of personal hygiene, stereotypia, disinhibition, loss of concern for consequences of acts, social rules, danger and empathy; dorsolateral executive variant: inadequacy to the context of action (goal, environmental changes...); progressive non-fluent aphasia: executive and praxic processing of speech; temporal variant: abstract concepts for speech, gestures and vision (semantic dementia, progressive nonfluent aphasia) (11) Temporomesial-limbic-paralimbic-associative cortical dementias (Alzheimer's disease, Lewy body, progressive amnesia): processing of explicit cognition: amnesic syndrome, processing of hand, larynx and eye: disorientation, ideomotor apraxia, agnosia, visuospatial processing, transcortical aphasia. (12) Focal posterior atrophy (Benson, progressive apraxia): visuomotor processing of what and where. (13) Macular degeneration: retinal "spot" for explicit symbols. (14) "Psychiatric syndromes": metacognition, self monitoring and regulation of hierarchical processing of metacognition: hallucinations, delusions, magic and mystic logic, delusions, confabulations; drive: impulsivity, obsessive-compulsive disorders, mental automatisms; social interactions: theory of mind, autism, Asperger. (15) Mood disorders: control on emotions: anxio-depressive and bipolar disorders, moria, emotional lability. (16) Musculoskeletal: inclusion body myositis: muscles for bipedal gait and fine motility. Paget's disease: bones for bipedal gait and cranium. Understanding of the genetic mechanisms underlying the evolution of these recent human brain regions and paleoneurology my be the key to the focal, asymmetrical or systemic character of neurodegeneration, the pathologic heterogeneity/overlap of syndromic presentations associating gait, hand, language, cognition, mood and behaviour disorders.

Associated congenital anomalies among cases with Down syndrome.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2015-12-01

Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Prevalence of musculoskeletal disorders and rheumatic diseases in an urban community in Monagas State, Venezuela: a COPCORD study.

PubMed

Granados, Ysabel; Cedeño, Ligia; Rosillo, Celenia; Berbin, Sol; Azocar, Miriam; Molina, María Elena; Lara, Onelia; Sanchez, Gloris; Peláez-Ballestas, Ingris

2015-05-01

The aim of the study was to determine the prevalence of musculoskeletal disorders and rheumatic diseases in an urban community in Venezuela. We conducted a cross-sectional, community-based study using the COPCORD (Community Oriented Program for Control of Rheumatic Diseases) methodology in subjects older than 18 years. Positive cases were evaluated by rheumatologists. We surveyed 3,973 individuals (1,606 males and 2,367 females), with a mean age of 43.7 years (standard deviation (SD) 17.6). Mean duration of education was 8.9 years (SD 3.7), 79.2 % had a monthly income of < US$569, and 46.4 % were working. Excluding trauma, the prevalence of pain in the 7 days prior to interview was 19.9 % (95 % confidence interval (CI) 18.7-21.2 %). Mean pain intensity on a visual analog scale was 6.3 (SD 2.2), and 30.1 % (95 % CI 28.7-31.6 %) had a history of pain. Respondents reported pain in the knees, back, hands, shoulders, and ankles in the last 7 days; 4.7 % described current functional limitation, with 16.5 % reporting limitations in the past. Regarding treatment, 23.9 % received medication, 6.4 % received physical therapy, and 2.6 % received alternative treatment. The main diagnoses were osteoarthritis in 15.0 % (95 % CI 13.9-16.1 %), rheumatic regional pain syndromes in 6.3 % (95 % CI 5.5-7.1 %), back pain in 2.8 % (95 % CI 2.3-3.4 %), rheumatoid arthritis in 0.4 % (95 % CI 0.2-0.6 %), crystal arthropathy in 0.3 % (95 % CI 0.1-0.5 %), fibromyalgia in 0.2 % (95 % CI 0.1-0.4 %), and systemic lupus erythematosus in 0.07 % (95 % CI 0.01-0.2 %). The prevalence of musculoskeletal disorders was 22.4 %, and the most prevalent disease was osteoarthritis. Pain, in which a patient is receiving treatment for musculoskeletal disorders, and physical disability were associated with the presence of a rheumatic disease.

Use of botulinum toxin in musculoskeletal pain

PubMed Central

Singh, Jasvinder A

2013-01-01

Chronic musculoskeletal pain is a common cause of chronic pain, which is associated with a total cost of $635 billion per year in the U.S. Emerging evidence suggests an anti-nociceptive action of botulinum toxin, independent of its muscle paralyzing action. This review provides a summary of data from both non-randomized and randomized clinical studies of botulinum toxin in back pain and various osteoarticular conditions, including osteoarthritis, tennis elbow, low back pain and hand pain. Three randomized controlled trials (RCTs) of small sizes provide evidence of short-term efficacy of a single intra-articular injection of 100 units of botulinum toxin A (BoNT/A) for the relief of pain and the improvement of both function and quality of life in patients with chronic joint pain due to arthritis. Three RCTs studied intramuscular BoNT/A for tennis elbow with one showing a significant improvement in pain relief compared with placebo, another one showing no difference from placebo, and the third finding that pain and function improvement with BoNT/A injection were similar to those obtained with surgical release. One RCT of intramuscular BoNT/A for low back pain found improvement in pain and function compared to placebo. Single RCTs using local injections of BoNT in patients with either temporomandibular joint (TMJ) pain or plantar fasciitis found superior efficacy compared to placebo. One RCT of intramuscular BoNT/B in patients with hand pain and carpal tunnel syndrome found improvement in pain in both BoNT/B and placebo groups, but no significant difference between groups. Most evidence is based on small studies, but the use of BoNT is supported by a single, and sometimes up to three, RCTs for several chronic musculoskeletal pain conditions. This indicates that botulinum toxin may be a promising potential new treatment for chronic refractory musculoskeletal pain. Well-designed large clinical trials are needed. PMID:24715952

Epidemiology of musculoskeletal injuries among Norwegian conscripts undergoing basic military training.

PubMed

Heir, T; Glomsaker, P

1996-06-01

Compulsory military service entails a change in the patterns of physical activity of many conscripts, and an accompanying risk of musculoskeletal injury. The present study was carried out to determine the incidence and types of musculoskeletal injury among Norwegian conscripts, and their consequences in the form of sick leave and discharge from the service. The study population consisted of 6488 conscripts in all, drawn from the Army, the Air Force and the Navy. They were monitored through an initial 6-10-week period of basic military and physical training. Every injury for which a conscript had to consult a doctor was registered. Slightly more than every fourth Army, every fifth Air Force and every eighth Navy conscript suffered one or more injuries during basic training. Incidence rates for the Army, Air Force and Navy respectively were 15.3, 13.4 and 9.3 injuries per 100 conscripts-months. The sites of the majority of the injuries were in the lower limbs (63%). The most common types of injury were low back pain; overuse knee injuries; Achilles tendinitis; sprains of joint capsules or ligaments; and periostitis or compartment syndromes of lower leg. In the doctors' opinions, contributory or triggering causes of the injuries could be attributed to organized service activities in 67% of the cases. The number of days of partial or total sick leave as a result of injury amounted to 3.4% and 0.2% respectively of the total basic training period. Of Army, Air Force and Navy conscripts, 23%, 16% and 11% respectively had sick leave. Injury was also the direct cause of the discharge of 2.1% of the Army conscripts and 0.1% of the Air Force and Navy conscripts. The results of the study show that musculoskeletal injuries occur frequently during basic training and that injuries contribute to lost training time.

Review of somatic symptoms in post-traumatic stress disorder.

PubMed

Gupta, Madhulika A

2013-02-01

Post-traumatic stress disorder (PTSD) is associated with both (1) 'ill-defined' or 'medically unexplained' somatic syndromes, e.g. unexplained dizziness, tinnitus and blurry vision, and syndromes that can be classified as somatoform disorders (DSM-IV-TR); and (2) a range of medical conditions, with a preponderance of cardiovascular, respiratory, musculoskeletal, neurological, and gastrointestinal disorders, diabetes, chronic pain, sleep disorders and other immune-mediated disorders in various studies. Frequently reported medical co-morbidities with PTSD across various studies include cardiovascular disease, especially hypertension, and immune-mediated disorders. PTSD is associated with limbic instability and alterations in both the hypothalamic- pituitary-adrenal and sympatho-adrenal medullary axes, which affect neuroendocrine and immune functions, have central nervous system effects resulting in pseudo-neurological symptoms and disorders of sleep-wake regulation, and result in autonomic nervous system dysregulation. Hypervigilance, a central feature of PTSD, can lead to 'local sleep' or regional arousal states, when the patient is partially asleep and partially awake, and manifests as complex motor and/or verbal behaviours in a partially conscious state. The few studies of the effects of standard PTSD treatments (medications, CBT) on PTSD-associated somatic syndromes report a reduction in the severity of ill-defined and autonomically mediated somatic symptoms, self-reported physical health problems, and some chronic pain syndromes.

Craniofacial and Dental Development in Costello Syndrome

PubMed Central

Goodwin, Alice F.; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C.; Fairley, Cecilia; Rauen, Katherine A.; Klein, Ophir D.

2014-01-01

Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n=41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development. PMID:24668879

Craniofacial and dental development in Costello syndrome.

PubMed

Goodwin, Alice F; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C; Fairley, Cecilia; Rauen, Katherine A; Klein, Ophir D

2014-06-01

Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n = 41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development. © 2014 Wiley Periodicals, Inc.

Hand-arm vibration syndrome: What family physicians should know.

PubMed

Shen, Shixin Cindy; House, Ronald A

2017-03-01

To provide family physicians with an understanding of the epidemiology, pathogenesis, symptoms, diagnosis, and management of hand-arm vibration syndrome (HAVS), an important and common occupational disease in Canada. A MEDLINE search was conducted for research and review articles on HAVS. A Google search was conducted to obtain gray literature relevant to the Canadian context. Additional references were obtained from the articles identified. Hand-arm vibration syndrome is a prevalent occupational disease affecting workers in multiple industries in which vibrating tools are used. However, it is underdiagnosed in Canada. It has 3 components-vascular, in the form of secondary Raynaud phenomenon; sensorineural; and musculoskeletal. Hand-arm vibration syndrome in its more advanced stages contributes to substantial disability and poor quality of life. Its diagnosis requires careful history taking, in particular occupational history, physical examination, laboratory tests to rule out alternative diagnoses, and referral to an occupational medicine specialist for additional investigations. Management involves reduction of vibration exposure, avoidance of cold conditions, smoking cessation, and medication. To ensure timely diagnosis of HAVS and improve prognosis and quality of life, family physicians should be aware of this common occupational disease and be able to elicit the relevant occupational history, refer patients to occupational medicine clinics, and appropriately initiate compensation claims. Copyright© the College of Family Physicians of Canada.

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

PubMed

Phatarakijnirund, Voraluck; Mumm, Steven; McAlister, William H; Novack, Deborah V; Wenkert, Deborah; Clements, Karen L; Whyte, Michael P

2016-03-01

Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain. Fracturing and joint destruction are common complications, but lack detailed studies of mineral and skeletal homeostasis and bone histology. In 2013, discovery of a heterozygous gain-of-function mutation in SCN11A encoding voltage-gated sodium channel 1.9 (Nav1.9) established a distinctive CIP in three unrelated patients who suffered multiple painless fractures, self-inflicted mutilation, chronic diarrhea, and hyperhidrosis. Here, we studied a mother and two children with CIP by physical examination, biochemical testing, radiological imaging including DXA, iliac crest histology, and mutation analysis. She suffered fractures primarily of her lower extremities beginning at age two years, and had Charcot deformity of both ankles and joint hypermobility. Nerve conduction velocity together with electromyography were normal. Her children had recurrent major fractures beginning in early childhood, joint hypermobility, and chronic diarrhea. She had an excoriated external nare, and both children had hypertrophic scars from scratching. Skin collagen studies were normal. Radiographs revealed fractures and deformities. However, lumbar spine and total hip BMD Z-scores, biochemical parameters of mineral and skeletal homeostasis, and iliac crest histology of the mother (after in vivo tetracycline labeling) were normal. Genomic DNA from the children revealed a unique heterozygous missense mutation in exon 23 (c.3904C>T, p.Leu1302Phe) of SCN11A that is absent in SNP databases and alters an evolutionarily conserved amino acid. This autosomal dominant CIP reflects the second gain-of-function mutation of SCN11A. Perhaps joint hypermobility is an unreported feature. How mutation of Nav1.9 causes fracturing remains unexplained. Lack of injury awareness is typically offered as the reason, and was supported by our unremarkable biochemical, radiological, and histological findings indicating no skeletal pathobiology. However, low-trauma fracturing in these patients suggests an uncharacterized defect in bone quality. Copyright © 2016 Elsevier Inc. All rights reserved.

Pediatric primary Sjögren syndrome presenting with bilateral ranulas: A case report and systematic review of the literature.

PubMed

Means, Casey; Aldape, Mark A; King, Ericka

2017-10-01

Primary Sjögren syndrome is uncommon in children, and the standard clinical criteria used in diagnosis of adult Sjögren syndrome will miss many children with the disease. Floor of mouth ranulas have not been described in Sjögren syndrome. This study aims to describe a novel presentation of juvenile primary Sjögren syndrome, and to present a comprehensive systematic review of the literature regarding the presentation and diagnosis of Sjögren syndrome in children. Ovid MEDLINE. A MEDLINE literature search was performed using the following search terms: primary, Sjögren, disease, and children. Results were limited to human subjects and articles written in English between 1981 and 2014. Applicable articles were reviewed and qualitatively summarized. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PRIMA). Initial MEDLINE search yielded 146 articles, 80 of which were excluded as not clinically pertaining to Sjögren syndrome. An additional 25 were excluded due to lack of pediatric-specific data. Systematic review of the literature revealed no reports of ranula in association with Sjögren syndrome. 6 papers were manually included from review of reference lists of included articles. Our review indicated that recurrent parotitis is the most commonly reported presenting symptom in children, followed by ocular and oral symptoms, musculoskeletal, and renal symptoms. Compared to adults, children are less likely to present with dry eyes and mouth. All studies were retrospective chart reviews, case series or case reports. This is the first report of a child presenting with floor of mouth ranulas in association with Sjögren syndrome. While recurrent parotitis is the most common presentation in children, other salivary gland and extra-salivary manifestations may be seen, and the clinician must maintain a high index of suspicion for underlying Sjögren syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

Cardiovascular and Musculoskeletal Assessment of Elite US Volleyball Players.

PubMed

Davis, Christopher K; Dyar, Dan A; Vargas, Lisa A; Grossfeld, Paul D

2015-11-01

The aim of this study was to characterize the cardiovascular and musculoskeletal systems of elite volleyball players, including aortic dimensions. Previous studies have shown that the upper limit of normal aortic sinus diameter for male and female athletes is 4 and 3.4 cm, respectively. Cross-sectional analysis. United States Olympic Volleyball Training Facility and Rady Children's Hospital San Diego. Seventy (37 male) members of the US national volleyball team. Athletes underwent evaluation that included medical and family histories, targeted physical examinations specifically focusing on abnormalities present in Marfan syndrome (MFS), and transthoracic echocardiograms. Cardiac chamber and great artery size, valve function, and coronary artery origins were assessed. Three male athletes (8%) had an aortic sinus diameter ≥4 cm, one of whom also had an ascending aorta >4 cm. Two female athletes (6%) had aortic sinus diameter ≥3.4 cm, and another had an ascending aorta of 3.4 cm. There were no other intracardiac or arterial abnormalities. Individual musculoskeletal characteristics of MFS were common among the athletes but not more frequent or numerous in those with aortic dilation. The prevalence of aortic root dilation in this population of athletes was higher than what has previously been reported in other similar populations. Further study is needed to determine whether these represent pathological changes or normal variations in tall athletes. This study adds to the existing knowledge base of athlete's heart, with specific attention to aortic dimensions in elite volleyball players. The data are relevant to similar athletes' medical care and to preparticipation cardiac screening in general.

Posterior, Lateral, and Anterior Hip Pain Due to Musculoskeletal Origin: A Narrative Literature Review of History, Physical Examination, and Diagnostic Imaging.

PubMed

Battaglia, Patrick J; D'Angelo, Kevin; Kettner, Norman W

2016-12-01

The purpose of this study was to present a narrative review of the literature of musculoskeletal causes of adult hip pain, with special attention to history, physical examination, and diagnostic imaging. A narrative review of the English medical literature was performed by using the search terms "hip pain" AND "anterior," "lateral," and "posterior." Additionally, specific entities of hip pain or pain referral sources to the hip were searched for. We used the PubMed search engine through January 15, 2016. Musculoskeletal sources of adult hip pain can be divided into posterior, lateral, and anterior categories. For posterior hip pain, select considerations include lumbar spine and femoroacetabular joint referral, sacroiliac joint pathology, piriformis syndrome, and proximal hamstring tendinopathy. Gluteal tendinopathy and iliotibial band thickening are the most common causes of lateral hip pain. Anterior hip pain is further divided into causes that are intra-articular (ie, labral tear, osteoarthritis, osteonecrosis) and extra-articular (ie, snapping hip and inguinal disruption [athletic pubalgia]). Entrapment neuropathies and myofascial pain should also be considered in each compartment. A limited number of historical features and physical examination tests for evaluation of adult hip pain are supported by the literature and are discussed in this article. Depending on the clinical differential, the gamut of diagnostic imaging modalities recommended for accurate diagnosis include plain film radiography, computed tomography, magnetic resonance imaging, skeletal scintigraphy, and ultrasonography. The evaluation of adult hip pain is challenging. Clinicians should consider posterior, lateral, and anterior sources of pain while keeping in mind that these may overlap.

Risk factors for neck and upper extremity disorders among computers users and the effect of interventions: an overview of systematic reviews.

PubMed

Andersen, Johan H; Fallentin, Nils; Thomsen, Jane F; Mikkelsen, Sigurd

2011-05-12

To summarize systematic reviews that 1) assessed the evidence for causal relationships between computer work and the occurrence of carpal tunnel syndrome (CTS) or upper extremity musculoskeletal disorders (UEMSDs), or 2) reported on intervention studies among computer users/or office workers. PubMed, Embase, CINAHL and Web of Science were searched for reviews published between 1999 and 2010. Additional publications were provided by content area experts. The primary author extracted all data using a purpose-built form, while two of the authors evaluated the quality of the reviews using recommended standard criteria from AMSTAR; disagreements were resolved by discussion. The quality of evidence syntheses in the included reviews was assessed qualitatively for each outcome and for the interventions. Altogether, 1,349 review titles were identified, 47 reviews were retrieved for full text relevance assessment, and 17 reviews were finally included as being relevant and of sufficient quality. The degrees of focus and rigorousness of these 17 reviews were highly variable. Three reviews on risk factors for carpal tunnel syndrome were rated moderate to high quality, 8 reviews on risk factors for UEMSDs ranged from low to moderate/high quality, and 6 reviews on intervention studies were of moderate to high quality. The quality of the evidence for computer use as a risk factor for CTS was insufficient, while the evidence for computer use and UEMSDs was moderate regarding pain complaints and limited for specific musculoskeletal disorders. From the reviews on intervention studies no strong evidence based recommendations could be given. Computer use is associated with pain complaints, but it is still not very clear if this association is causal. The evidence for specific disorders or diseases is limited. No effective interventions have yet been documented.

Prevalence of musculoskeletal pain and rheumatic diseases in the southeastern region of Mexico. A COPCORD-based community survey.

PubMed

Alvarez-Nemegyei, José; Peláez-Ballestas, Ingris; Sanin, Luz Helena; Cardiel, Mario H; Ramirez-Angulo, Angelica; Goycochea-Robles, Maria-Victoria

2011-01-01

To assess the prevalence of musculoskeletal (MSK) pain and rheumatic diseases in the southeastern Mexican state of Yucatán. Using the Community Oriented Program in the Rheumatic Diseases (COPCORD) methodology, we performed a door-to-door, cross-sectional study generated through a multistage, stratified, randomized method on 3915 adult residents (age 42.7 ± 17.1 yrs; women 61.8%; urban setting 45.7%) of the Mexican state of Yucatán. We used universally accepted criteria for the diagnosis or classification of rheumatoid arthritis (RA), osteoarthritis (OA; knee and hand), fibromyalgia, systemic lupus erythematosus (SLE), gout, ankylosing spondylitis, regional rheumatic pain syndromes, and inflammatory back pain. Nontraumatic MSK pain in the last 7 days was present in 766 (19.6%; 95% CI 18.3-20.8) individuals. MSK pain was more prevalent in women (26.6%) versus men (12.2%; p < 0.01). Self-reported MSK disability occurred in 1.7%. Most MSK pain-related variables were consistently more prevalent in the urban setting. The prevalence of rheumatic disease was: OA 6.8% (95% CI 6.0-7.6); back pain 3.8% (95% CI 3.2-4.4); RA 2.8% (95% CI 2.2-3.3); rheumatic regional pain syndromes 2.3% (95% CI 1.9-2.8); inflammatory back pain 0.7% (95% CI 0.5-1.0); fibromyalgia 0.2% (95% CI 0.1-0.4); gout 0.1% (95% CI 0.07-0.3); and SLE 0.07% (95% CI 0.01-0.2). The prevalence of MSK pain was 19.6%. MSK pain was more prevalent in women and in the urban setting. A remarkably high prevalence of RA was found in this population, which suggests a role for geographic factors.

Bilateral diaphyseal bone cysts of the tibia mimicking shin splints in a young professional athlete--a case report and depiction of a less-invasive surgical technique.

PubMed

Toepfer, Andreas; Harrasser, Norbert; Lenze, Ulrich; Liska, Franz; Mühlhofer, Heinrich; von Eisenhart-Rothe, Rüdiger; Banke, Ingo J

2015-08-23

Medial tibial stress syndrome is one of the most common causes of exertional leg pain in runners whereas musculoskeletal tumors and tumor-like lesions are rare encounters in orthopedic sports medicine practice. Unicameral (simple) bone cyst is a well-known tumor-like lesions of the bone typically affecting children and adolescents. Bilateral occurrence is very rare though and has never been reported before in both tibiae. Failing to accurately diagnose a tumorous lesion can entail far-reaching consequences for both patients and physicians. We report the case of large bilateral unicameral bone cysts of the diaphyseal tibiae mimicking medial tibial stress syndrome in a 17-year old professional athlete. This is the first report of symmetric tibial unicameral bone cysts in the literature. The patient complained about persisting shin splint-like symptoms over 5 months despite comprehensive conservative treatment before MRI revealed extensive osteolytic bone lesions in both diaphyseal tibiae. The patient-tailored, less-invasive surgical procedure, allowing the patient to return to his competitive sports level symptom-free 3 months after surgery and to eventually qualify for this years Biathlon Junior World Championships, is outlined briefly. Pathogenesis and various treatment options for this entity will be discussed. This report will help to raise awareness for musculoskeletal tumors as differential diagnosis for therapy-refractory symptoms in young athletes and encourage medical staff involved in sports medicine and athlete support to perform early high quality imaging and initiate sufficient surgical treatment in similar cases. Moreover, our less-invasive surgical procedure aiming for a fast return to sports might be an optimal compromise between traditional open curettage with low risk of recurrence and a soft tissue-saving and bone-sparing minimal-invasive technique.

Cancer and autoimmunity: autoimmune and rheumatic features in patients with malignancies

PubMed Central

Abu-Shakra, M; Buskila, D; Ehrenfeld, M; Conrad, K; Shoenfeld, Y

2001-01-01

OBJECTIVES—To review the autoimmune and rheumatic manifestations of patients with malignancy.
METHODS—A Medline search of all published papers using keywords related to malignancies, autoimmunity, rheumatic diseases, and paraneoplastic syndromes.
RESULTS—Patients with malignant diseases may develop autoimmune phenomena and rheumatic diseases as a result of (a) generation of autoantibodies against various autoantigens, including oncoproteins (P185, 1-myc, c-myc, c-myb), tumour suppression genes (P53), proliferation associated antigens (cyclin A, B1, D1, E; CENP-F; CDK, U3-RNP), onconeural antigens (Hu, Yo, Ri, Tr), cancer/testis antigens (MAGE, GAGE, BAGE, SSX, ESO, SCP, CT7), and rheumatic disease associated antigens (RNP, Sm). The clinical significance of the various autoantibodies is not clear. Anti-oncoprotein and anti-tumour suppression gene antigens are detected before the diagnosis of the cancer or in the early stages of the malignant disease, suggesting a potential diagnostic or prognostic role. Anti-onconeural antibodies are pathogenic and are associated with specific clinical neurological syndromes (anti-Hu syndrome and others). (b) Paraneoplastic syndromes, a wide range of clinical syndromes, including classic autoimmune rheumatic diseases that develop among patients with cancer. (c) Rheumatism after chemotherapy, a clinical entity characterised by the development of musculoskeletal symptoms after combination chemotherapy for malignancy.
CONCLUSION—Autoimmune and rheumatic features are not rare among patients with malignancies. They are the result of various diverse mechanisms and occasionally they may be associated with serious clinical entities.

 PMID:11302861

Association of smoking and chronic pain syndromes in Kentucky women.

PubMed

Mitchell, Michael D; Mannino, David M; Steinke, Douglas T; Kryscio, Richard J; Bush, Heather M; Crofford, Leslie J

2011-08-01

The objective of this project was to determine the relationship between cigarette smoking and the reporting of chronic pain syndromes among participants in the Kentucky Women's Health Registry. Data was analyzed on 6,092 women over 18 years of age who responded to survey questions on pain and smoking. The chronic pain syndromes included in the analysis were fibromyalgia, sciatica, chronic neck pain, chronic back pain, joint pain, chronic head pain, nerve problems, and pain all over the body. Analyses controlled for age, body mass index, and Appalachian versus non-Appalachian county of residence. Results showed that women who were daily smokers reported more chronic pain (defined as the presence of any reported chronic pain syndromes) than women who were never smokers (adjusted odds ratio [aOR] = 2.04 and 95% confidence interval [CI] 1.67, 2.49). An increased risk was also seen for "some-day" smokers (aOR 1.68, 95% CI 1.24, 2.27), and former smokers (aOR 1.20, 95% CI 1.06, 1.37), though with less of an association in the latter group. This study provides evidence of an association between chronic pain and cigarette smoking that is reduced in former smokers. This paper presents the association between smoking and musculoskeletal pain syndromes among Kentucky women. This finding may provide additional opportunities for intervention in patients with chronic pain. Copyright © 2011 American Pain Society. Published by Elsevier Inc. All rights reserved.

[Apical resorption in pre-surgical orthodontics].

PubMed

Piasente, M; Merlini, C; Amelotti, C; Antonioli, M; Roghi, M

1991-07-15

Apical root resorption is a frequent phenomenon observed in pre-surgical orthodontic; the reason is double: we deal with adult patients and we often move the teeth in the opposite direction compared to the position obtained in previous inefficacious orthodontic treatments. Notwithstanding the amount of apical root resorption we couldn't record an hyper-mobility of the teeth and a long term evaluation of occlusal stability didn't show any significant change.

[Features of autonomic dysfunction in myofascial pain syndromes cervicobrachial localization].

PubMed

Морозова, О Г; Ярошевский, А А; Липинская, Я В

2015-01-01

The relevance of this study is due to the prevalence of autonomic disorders and musculoskeletal pain, especially among the young people of working age. In recent years, many authors in scientific works have been highlighted aspects of mutual development myofascial and autonomic dysfunction, which is caused by neurophysiological preconditions and anatomical and topographical relationships that need to be considered in the diagnostic and therapeutic approaches. To study the characteristics of the formation and flow of autonomic dysfunction syndrome with paroxysmal and permanent types of flow in patients with myofascial pain syndromes cervicobrachial localization. Using clinical neurological, vertebral neurological, neuropsychological methods of studying the severity of pain (visual analogue scale and Pain questionnaire of Mac Gill) examined 84 patients suffering from autonomic dysfunction on the background of myofascial pain syndromes cervicobrachial localization. To identify the features of vegetative regulation of patients were divided into two groups: group 1 (51 people) - with a permanent type of course; group 2 (33 patients) - a type of paroxysmal of course of autonomic dysfunction. It was found more pronounced disturbances in patients with paroxysmal type of course of autonomic dysfunction. The frequency and severity of autonomic paroxysms associated with the severity of musculo-tonic syndrome and location of active trigger points in the muscles of the neck and shoulder girdle, due to anatomic and topographic features of these muscles, namely the proximity of their location to the sympathetic formations neck. The formation and development of emotional and affective disorders in both groups played a significant role of pain and musculo-tonic syndrome. The syndrome of autonomic dysfunction, in particular its paroxysmal type of flow, on the one hand is a response to the development of myofascial pain syndromes cervicobrachial localization, with another - a factor that facilitates the development of pain and muscular-tonic syndromes, burdening the disease. In the diagnosis and treatment of myofascial and autonomic dysfunction should take into account comorbidity data of pathological conditions, which is important for developing individual therapeutic regimens.

Specific and non-specific upper extremity musculoskeletal disorder syndromes in automobile manufacturing workers

PubMed Central

d'Errico, Angelo; Katz, Jeffrey N.; Gore, Rebecca; Punnett, Laura

2009-01-01

Objective A longitudinal cohort of automobile manufacturing workers (n = 1214) was examined for: 1) prevalence and persistence of specific upper extremity musculoskeletal disorders (UEMSDs) such as lateral epicondylitis and de Quervain's disease, and non-specific disorders (NSDs) defined in symptomatic individuals without any specific disorder, and 2) disorder prognoses based on symptom characteristics and other factors. Methods Eight specific disorders were identified through case definitions based on upper extremity physical examinations and symptom surveys administered on three occasions over six years. Results At baseline, 41% of the cohort reported upper extremity symptoms; 18% (n = 214) of these had NSDs. In each survey, tendon-related conditions accounted for over half of the specific morbidity. Twenty-five percent had UEMSDs in multiple anatomical sites, and most with hand/wrist disorders had two or more hand/wrist UEMSDs. Persistence for all specific disorders decreased with length of follow-up. Specific UEMSDs were characterized by greater pain severity and functional impairment, and more lost work days than NSDs. Conclusions Upper extremity symptoms and diagnoses vary over time. NSDs may be the early stages of conditions that will eventually become more specific. NSDs and overlapping specific UEMSDs should be taken into account in UEMSD classification. PMID:19016265

[Occupational risks in grocery stores].

PubMed

Graziosi, Francesca; Bonfiglioli, Roberta; Violante, Francesco S

2014-01-01

This work provides an overview of the spectrum of possible occupational risk factors in the retail grocery store/supermarket workplace. Literature on this theme, obtained consulting PubMed database and Google Scholar, was checked. We also exjlore results from the National bInstitute for Occupational Safety and Health (NIOSH) and the Occupational Safety and Health Administration (OSHA). RESULTs: Contacts with objects, use of dangerous equipment (cutter, food slicer) and falls to the same level (slips, trips and falls) are the mainly described workplace hazards. Exposure to chemical (flour dust, components of detergents or disinfectants, volatile organic compounds and contact with nickel) and physical agents (cold exposure, nonionizing radiation and whole bpdy vibration) are reported by many authors. Relations between biomechanical and ergonomic risk factors and musculoskeletal disorders represent the main subjects of study. Few studies are found about biological agents (particularly among butchers). Data regarding psychosocial risks factors in this setting are still limited. Musculoskeletal disorders continue to be the most recurrent health problem between the grocery store workers (particularly low back pain and carpal tunnel syndrome among cashiers). Many technical documents and international Srecommendations are present to prevent these kinds of disorders. Psychosocial risk factors and risk of workplace violence should deserve further investigation.

Interventional MSK procedures: the hip.

PubMed

Dodré, Emilie; Lefebvre, Guillaume; Cockenpot, Eric; Chastanet, Patrick; Cotten, Anne

2016-01-01

Percutaneous musculoskeletal procedures are widely accepted as low invasive, highly effective, efficient and safe methods in a vast amount of hip pathologies either in diagnostic or in therapeutic management. Hip intra-articular injections are used for the symptomatic treatment of osteoarthritis. Peritendinous or intrabursal corticosteroid injections can be used for the symptomatic treatment of greater trochanteric pain syndrome and anterior iliopsoas impingement. In past decades, the role of interventional radiology has rapidly increased in metastatic disease, thanks to the development of many ablative techniques. Image-guided percutaneous ablation of skeletal metastases provides a minimally invasive treatment option that appears to be a safe and effective palliative treatment for localized painful lytic lesion. Methods of tumour destruction based on temperature, such as radiofrequency ablation (RFA) and cryotherapy, are performed for the management of musculoskeletal metastases. MR-guided focused ultrasound surgery provides a non-invasive alternative to these ablative methods. Cementoplasty is now widely used for pain management and consolidation of acetabular metastases and can be combined with RFA. RFA is also used to treat benign tumours, namely osteoid osteomas. New interventional procedures such as percutaneous screw fixation are also proposed to treat non-displaced or minimally displaced acetabular roof fractures.

Does low bone density influence symptoms and functional status in patients with fibromyalgia? Observations from rural South India.

PubMed

Babu, Abraham Samuel; Ikbal, Faizal M; Noone, Manjula Sukumari; Joseph, Anupama Naomi; Danda, Debashish

2015-11-01

The presence of more than one musculoskeletal disease has been found to impair quality of life (QoL). The influence of low bone mineral density (BMD) on symptoms and function in those with fibromyalgia syndrome (FMS) is unknown. A cross sectional study was carried out on 158 patients attending camps in rural South India. BMD was determined using quantitative ultrasound of the distal radius. Symptoms and function were assessed using a visual analogue scale (VAS) and the Fibromyalgia Impact Questionnaire (FIQ). Low BMD was seen in 81.6% (129/158) of the persons screened. FMS was seen in 37/158 persons, of which 31/37 (83.7%) had low BMD. FMS with low bone density leads to higher levels of pain and a poorer QoL compared to those without FMS. Coexisting musculoskeletal problems could also contribute to this. Therefore, medical practitioners and rehabilitation specialists should consider screening for bone density among those with FMS and should use this information to decide appropriate therapies to reduce pain and improve QoL. © 2015 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

Computational stability of human knee joint at early stance in Gait: Effects of muscle coactivity and anterior cruciate ligament deficiency.

PubMed

Sharifi, M; Shirazi-Adl, A; Marouane, H

2017-10-03

As one of the most complex and vulnerable structures of body, the human knee joint should maintain dynamic equilibrium and stability in occupational and recreational activities. The evaluation of its stability and factors affecting it is vital in performance evaluation/enhancement, injury prevention and treatment managements. Knee stability often manifests itself by pain, hypermobility and giving-way sensations and is usually assessed by the passive joint laxity tests. Mechanical stability of both the human knee joint and the lower extremity at early stance periods of gait (0% and 5%) were quantified here for the first time using a hybrid musculoskeletal model of the lower extremity. The roles of muscle coactivity, simulated by setting minimum muscle activation at 0-10% levels and ACL deficiency, simulated by reducing ACL resistance by up to 85%, on the stability margin as well as joint biomechanics (contact/muscle/ligament forces) were investigated. Dynamic stability was analyzed using both linear buckling and perturbation approaches at the final deformed configurations in gait. The knee joint was much more stable at 0% stance than at 5% due to smaller ground reaction and contact forces. Muscle coactivity, when at lower intensities (<3% of its maximum active force), increased dynamic stability margin. Greater minimum activation levels, however, acted asan ineffective strategy to enhance stability. Coactivation also substantially increased muscle forces, joint loads and ACL force and hence the risk of further injury and degeneration. A deficiency in ACL decreases total ACL force (by 31% at 85% reduced stiffness) and the stability margin of the knee joint at the heel strike. It also markedly diminishes forces in lateral hamstrings (by up to 39%) and contact forces on the lateral plateau (by up to 17%). Current work emphasizes the need for quantification of the lower extremity stability margin in gait. Copyright © 2017 Elsevier Ltd. All rights reserved.

Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication.

PubMed

Giri, Dinesh; Patil, Prashant; Hart, Rachel; Didi, Mohammed; Senniappan, Senthil

2017-01-01

Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8 , KCNJ11 and HNF4A did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13-14 region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the HK1 located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. Congenital hyperinsulinism (CHI) is known to be associated with various syndromes.This is the first reported association of CHI and Poland syndrome (PS) with duplication in 10p13-14.A potential underlying genetic link between 10p13-14 duplication, PS and CHI is a possibility.

A Tale of Two Disability Coding Systems: The Veterans Administration Schedule for Rating Disabilities (VASRD) vs. Diagnostic Coding Using the International Classification of Diseases, 9th Edition, Clinical Modification (ICD-9-CM)

DTIC Science & Technology

2008-01-01

BMI and higher body fat among Army recruits, or it could reflect changes in occupational exposures in the Army. For instance, some occupational...Intervertebral Disc w/o Myelopathy 613 2.45% 733.1 Pathological Fracture 530 2.11% * Percents are given out of the total number of musculoskeletal...Atherosclerosis 228 17.97% 733.1 Pathological Fracture 121 9.54% 443.0 Raynaud’s Syndrome 75 5.91% 729.5 Pain in Limb 74 5.83% 733.9 Other and Unspecified

Acute thoracolumbar pain due to cholecystitis: a case study.

PubMed

Carter, Chris T

2015-01-01

This article describes and discusses the case of an adult female with cholecystitis characterized on initial presentation as acute thoracolumbar pain. A 34-year-old female presented for care with a complaint of acute right sided lower thoracic and upper lumbar pain with associated significant hyperalgesia and muscular hypertonicity. The patient was examined, referred, and later diagnosed by use of ultrasound imaging. Despite many initial physical examination findings of musculoskeletal dysfunction, this case demonstrates the significance of visceral referred pain, viscerosomatic hyperalgesia & hypertonicity, and how these neurological processes can mimic mechanical pain syndromes. A clinical neurological discussion of cholecystitis visceral pain and referred viscerosomatic phenomena is included.

[Caudal regression sequence: clinical-radiological case].

PubMed

Zepeda T, Juan; García M, Mirna; Morales S, Jorge; Pantoja H, Miguel A; Espinoza G, Aníbal

2015-01-01

Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Computer vision syndrome: A review.

PubMed

Gowrisankaran, Sowjanya; Sheedy, James E

2015-01-01

Computer vision syndrome (CVS) is a collection of symptoms related to prolonged work at a computer display. This article reviews the current knowledge about the symptoms, related factors and treatment modalities for CVS. Relevant literature on CVS published during the past 65 years was analyzed. Symptoms reported by computer users are classified into internal ocular symptoms (strain and ache), external ocular symptoms (dryness, irritation, burning), visual symptoms (blur, double vision) and musculoskeletal symptoms (neck and shoulder pain). The major factors associated with CVS are either environmental (improper lighting, display position and viewing distance) and/or dependent on the user's visual abilities (uncorrected refractive error, oculomotor disorders and tear film abnormalities). Although the factors associated with CVS have been identified the physiological mechanisms that underlie CVS are not completely understood. Additionally, advances in technology have led to the increased use of hand-held devices, which might impose somewhat different visual challenges compared to desktop displays. Further research is required to better understand the physiological mechanisms underlying CVS and symptoms associated with the use of hand-held and stereoscopic displays.

Pooling job physical exposure data from multiple independent studies in a consortium study of carpal tunnel syndrome

PubMed Central

Kapellusch, Jay M.; Garg, Arun; Bao, Stephen S.; Silverstein, Barbara A.; Burt, Susan E.; Dale, Ann Marie; Evanoff, Bradley A.; Gerr, Frederic E.; Harris-Adamson, Carisa; Hegmann, Kurt T.; Merlino, Linda A.; Rempel, David M.

2015-01-01

Pooling data from different epidemiological studies of musculoskeletal disorders (MSDs) is necessary to improve statistical power and to more precisely quantify exposure–response relationships for MSDs. The pooling process is difficult and time-consuming, and small methodological differences could lead to different exposure–response relationships. A subcommittee of a six-study research consortium studying carpal tunnel syndrome: (i) visited each study site, (ii) documented methods used to collect physical exposure data and (iii) determined compatibility of exposure variables across studies. Certain measures of force, frequency of exertion and duty cycle were collected by all studies and were largely compatible. A portion of studies had detailed data to investigate simultaneous combinations of force, frequency and duration of exertions. Limited compatibility was found for hand/wrist posture. Only two studies could calculate compatible Strain Index scores, but Threshold Limit Value for Hand Activity Level could be determined for all studies. Challenges of pooling data, resources required and recommendations for future researchers are discussed. PMID:23697792

Aging and Down syndrome: implications for physical therapy.

PubMed

Barnhart, Robert C; Connolly, Barbara

2007-10-01

The number of people over the age of 60 years with lifelong developmental delays is predicted to double by 2030. Down syndrome (DS) is the most frequent chromosomal cause of developmental delays. As the life expectancy of people with DS increases, changes in body function and structure secondary to aging have the potential to lead to activity limitations and participation restrictions for this population. The purpose of this update is to: (1) provide an overview of the common body function and structure changes that occur in adults with DS as they age (thyroid dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer disease, depression) and (2) apply current research on exercise to the prevention of activity limitations and participation restrictions. As individuals with DS age, a shift in emphasis from disability prevention to the prevention of conditions that lead to activity and participation limitations must occur. Exercise programs appear to have potential to positively affect the overall health of adults with DS, thereby increasing the quality of life and years of healthy life for these individuals.

Cerebral magnetic resonance changes associated with fibromyalgia syndrome.

PubMed

Murga, Iñigo; Guillen, Virginia; Lafuente, José-Vicente

2017-06-07

Fibromyalgia syndrome is a chronic disease, of unknown origin, whose diagnostic criteria were established in 1990 by the American College of Rheumatology. New criteria were proposed in 2010 that have not yet been validated. It is characterized by a generalized chronic musculoskeletal pain, accompanied by hyperalgesia and allodynia, as well as other motor, vegetative, cognitive and affective symptoms and signs. We have reviewed a set of studies with cerebral magnetic resonance (morphometry, connectivity and spectroscopy) that refer to changes in areas involved in pain processing. Modifications in gray and white matter volume, as well as in levels of N-acetylaspartate, choline or glutamate, among other metabolites, have been observed in the hippocampus, insula, prefrontal and cingular cortex. Neuroradiological findings are nonspecific and similar to those found in other examples of chronic pain. An increase in the sample size and a standardized methodology would facilitate comparison, allowing the drawing of general conclusions. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

The Effect of Tool Handle Shape on Hand Muscle Load and Pinch Force in a Simulated Dental Scaling Task

PubMed Central

Dong, Hui; Loomer, Peter; Barr, Alan; LaRoche, Charles; Young, Ed; Rempel, David

2007-01-01

Work-related upper extremity musculoskeletal disorders, including carpal tunnel syndrome, are prevalent among dentists and dental hygienists. An important risk factor for developing these disorders is forceful pinching which occurs during periodontal work such as dental scaling. Ergonomically designed dental scaling instruments may help reduce the prevalence of carpal tunnel syndrome among dental practitioners. In this study, 8 custom-designed dental scaling instruments with different handle shapes were used by 24 dentists and dental hygienists to perform a simulated tooth scaling task. The muscle activity of two extensors and two flexors in the forearm was recorded with electromyography while thumb pinch force was measured by pressure sensors. The results demonstrated that the instrument handle with a tapered, round shape and a 10 mm diameter required the least muscle load and pinch force when performing simulated periodontal work. The results from this study can guide dentists and dental hygienists in selection of dental scaling instruments. PMID:17156742

Post-Polio Syndrome and the Late Effects of Poliomyelitis: Part 1. Pathogenesis, Biomechanical Considerations, Diagnosis, and Investigations.

PubMed

Lo, Julian K; Robinson, Lawrence R

2018-05-12

Post-Polio Syndrome (PPS) is characterized by new muscle weakness and/or muscle fatigability that occurs many years following the initial poliomyelitis illness. There are many theories that exist on the pathogenesis of PPS, which remains incompletely understood. In contrast, the Late Effects of Poliomyelitis are often a consequence of biomechanical alterations that occur as a result of polio-related surgeries, musculoskeletal deformities or weakness. Osteoporosis and fractures of the polio-involved limbs are common. A comprehensive clinical evaluation with appropriate investigations is essential to fulfilling the established PPS diagnostic criteria. PPS is a diagnosis of exclusion, in which a key clinical feature required for the diagnosis is new muscle weakness and/or muscle fatigability that is persistent for at least one year. Electromyographic and muscle biopsy findings including evidence of ongoing denervation cannot reliably distinguish between patients with or without PPS. This article is protected by copyright. All rights reserved. © 2018 Wiley Periodicals, Inc.

[Analgesic efficacy of magnetoledotherapy in patients with low back pain syndromes].

PubMed

Krukowska, Jolanta; Woldańska-Okońska, Marta; Jankowska, Katarzyna; Kwiecień-Czerwieniec, Ilona; Czernicki, Jan

2010-01-01

Low back pain syndromes most often occur due to overloading of the musculoskeletal system. The cause is a frequent, improper lifting of heavy objects, most commonly by those working physically, with repetitive movements of bending and straightening of the trunk (turning and bending with load). This problem affects not only adults but also children and adolescents. There is a growing interest in new forms of analgesic therapy nowadays, especially in those that exhibit synergistic therapeutic effects. The aim of this work is to evaluate the analgesic efficacy of magnetoledotherapy in patients with lumbar--sacrum spinal pain syndromes caused by joints degenerative changes. The examination was carried out in 66 patients of both sexes aged 30 to 76 (average 54.7 +/- 13.8) with low back pain syndrome caused by spinal degenerative changes. The patients were divided into three groups according to the applied analgesic therapy (magnetoledotherapy, magnetostimulation, TENS currents). Level of pain has been evaluated four times in all patients--before the start of therapy and after 5, 10 and 15 applications with the use of the modified Laitinen Questionnaire and Visual-Analoque Scale (VAS). Post therapy levels of pain in the studied patients decreased significantly. According to Laitinen questionnaire, the greatest improvement was observed in the group treated with magnetoledotherapy and TENS currents and the smallest improvement was observed in the group treated with magnetostimulation. 1. Magnetoledotherapy shows significant analgesic efficacy in patients with low back pain syndrome and shows no side effects. 2. Concurrent application of both the infrared radiation generated by LED's and magnetostimulation synergistically reinforces analgesic effect in patients with low back pain syndrome, especially in level of pain and frequency of its occurrence, which results in the increase of movement activity and decrease in administration of analgesics.

Gait retraining and incidence of medial tibial stress syndrome in army recruits.

PubMed

Sharma, Jagannath; Weston, Matthew; Batterham, Alan M; Spears, Iain R

2014-09-01

Gait retraining, comprising biofeedback and/or an exercise intervention, might reduce the risk of musculoskeletal conditions. The purpose was to examine the effect of a gait-retraining program on medial tibial stress syndrome incidence during a 26-wk basic military training regimen. A total of 450 British Army recruits volunteered. On the basis of a baseline plantar pressure variable (mean foot balance during the first 10% of stance), participants classified as at risk of developing medial tibial stress syndrome (n = 166) were randomly allocated to an intervention (n = 83) or control (n = 83) group. The intervention involved supervised gait retraining, including exercises to increase neuromuscular control and flexibility (three sessions per week) and biofeedback enabling internalization of the foot balance variable (one session per week). Both groups continued with the usual military training regimen. Diagnoses of medial tibial stress syndrome over the 26-wk regimen were made by physicians blinded to the group assignment. Data were modeled in a survival analysis using Cox regression, adjusting for baseline foot balance and time to peak heel rotation. The intervention was associated with a substantially reduced instantaneous relative risk of medial tibial stress syndrome versus control, with an adjusted HR of 0.25 (95% confidence interval, 0.05-0.53). The number needed to treat to observe one additional injury-free recruit in intervention versus control at 20 wk was 14 (11 to 23) participants. Baseline foot balance was a nonspecific predictor of injury, with an HR per 2 SD increment of 5.2 (1.6 to 53.6). The intervention was effective in reducing incidence of medial tibial stress syndrome in an at-risk military sample.

Ergonomic Microscope: Need of the Hour

PubMed Central

Mhaske, Shubhangi Ashok; Ahmad, Malik Ajaz; Yuwanati, Monal B.; Prabhu, Shweta; Pardhe, Nilesh

2015-01-01

Background Prolonged use of conventional microscope develops musculo-skeletal injuries like chronic pain syndrome, including shoulder, neck, back aches & fatigue. Since the problems go unnoticed, the injuries can lead to some serious permanent damages. This further leads to a compromise in the health and welfare of the person and the institute. Hence, an understanding about the ergonomics is the need of the hour in this postmodern era. Inspite of few studies and surveys about ergonomics, there is still a steep rise in the musculoskeletal disorders. Aim of the Study The aim of our study was to gauge the general awareness of pathologists, microbiologists and oral pathologists towards ergonomics in their profession. Materials and Methods A cross-sectional survey based study was de­signed, which included a questionnaire. The questionnaire included multiple choice questions with four alternatives. Professionals (pathologists, microbiologists and oral pathologists) were included in the survey. Teaching faculty (Professors, Associate Professors and Lecturers) and Post graduate students formed the study group. Results and Observations The response to the questionnaire was 100%. Less than 50% of oral pathologists were aware of the importance of ergonomics in their profession. The most common site affected was neck and back. One of the drastic observations was that, Oral Pathologists suffered from a combination of problems affecting neck, back, eyes, headache, shoulders, arms and wrists. Conclusion Increase in our understanding regarding ergonomic­ally designed microscopes can increase our efficiency and in turn improve our general well-being. With improvements in ergonomics, professionals would be able to modify and optimize their working conditions. Certain guidelines need to be followed by the profes­sionals to reduce chances of musculoskeletal disorders. PMID:26155565

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

PubMed Central

Schwarze, Ulrike; Hata, Ryu-Ichiro; McKusick, Victor A.; Shinkai, Hiroshi; Hoyme, H. Eugene; Pyeritz, Reed E.; Byers, Peter H.

2004-01-01

Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of other exons. We identified three unrelated individuals with a rare recessively inherited form of EDS (characterized by joint hypermobility, skin hyperextensibility, and cardiac valvular defects); in two of them, COL1A2 messenger RNA (mRNA) instability results from compound heterozygosity for splice site mutations in the COL1A2 gene, and, in the third, it results from homozygosity for a nonsense codon. The splice site mutations led to use of cryptic splice donor sites, creation of a downstream premature termination codon, and extremely unstable mRNA. In the wild-type allele, the two introns (IVS11 and IVS24) in which these mutations occurred were usually spliced slowly in relation to their respective immediate upstream introns. In the mutant alleles, the upstream intron was removed, so that exon skipping could not occur. In the context of the mutation in IVS24, computer-generated folding of a short stretch of mRNA surrounding the mutation site demonstrated realignment of the relationships between the donor and acceptor sites that could facilitate use of a cryptic donor site. These findings suggest that the order of intron removal is an important variable in prediction of mutation outcome at splice sites and that folding of the nascent mRNA could be one element that contributes to determination of order of splicing. The complete absence of proα2(I) chains has the surprising effect of producing cardiac valvular disease without bone involvement. PMID:15077201

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PubMed

Schwarze, Ulrike; Hata, Ryu-Ichiro; McKusick, Victor A; Shinkai, Hiroshi; Hoyme, H Eugene; Pyeritz, Reed E; Byers, Peter H

2004-05-01

Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of skipping of other exons. We identified three unrelated individuals with a rare recessively inherited form of EDS (characterized by joint hypermobility, skin hyperextensibility, and cardiac valvular defects); in two of them, COL1A2 messenger RNA (mRNA) instability results from compound heterozygosity for splice site mutations in the COL1A2 gene, and, in the third, it results from homozygosity for a nonsense codon. The splice site mutations led to use of cryptic splice donor sites, creation of a downstream premature termination codon, and extremely unstable mRNA. In the wild-type allele, the two introns (IVS11 and IVS24) in which these mutations occurred were usually spliced slowly in relation to their respective immediate upstream introns. In the mutant alleles, the upstream intron was removed, so that exon skipping could not occur. In the context of the mutation in IVS24, computer-generated folding of a short stretch of mRNA surrounding the mutation site demonstrated realignment of the relationships between the donor and acceptor sites that could facilitate use of a cryptic donor site. These findings suggest that the order of intron removal is an important variable in prediction of mutation outcome at splice sites and that folding of the nascent mRNA could be one element that contributes to determination of order of splicing. The complete absence of pro alpha 2(I) chains has the surprising effect of producing cardiac valvular disease without bone involvement.

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

PubMed Central

Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco; Colombi, Marina

2018-01-01

The αvβ3 integrin, an endothelial cells’ receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal transition. In vitro-grown human control fibroblasts organize a fibrillar network of FN, which is preferentially bound on the entire cell surface to its canonical α5β1 integrin receptor, whereas the αvβ3 integrin is present only in rare patches in focal contacts. We report on the preferential recruitment of the αvβ3 integrin, due to the lack of FN–ECM and its canonical integrin receptor, in dermal fibroblasts from Ehlers–Danlos syndromes (EDS) and arterial tortuosity syndrome (ATS), which are rare multisystem connective tissue disorders. We review our previous findings that unraveled different biological mechanisms elicited by the αvβ3 integrin in fibroblasts derived from patients affected with classical (cEDS), vascular (vEDS), hypermobile EDS (hEDS), hypermobility spectrum disorders (HSD), and ATS. In cEDS and vEDS, respectively, due to defective type V and type III collagens, αvβ3 rescues patients’ fibroblasts from anoikis through a paxillin-p60Src-mediated cross-talk with the EGF receptor. In hEDS and HSD, without a defined molecular basis, the αvβ3 integrin transduces to the ILK-Snail1-axis inducing a fibroblast-to-myofibroblast-transition. In ATS cells, the deficiency of the dehydroascorbic acid transporter GLUT10 leads to redox imbalance, ECM disarray together with the activation of a non-canonical αvβ3 integrin-TGFBRII signaling, involving p125FAK/p60Src/p38MAPK. The characterization of these different biological functions triggered by αvβ3 provides insights into the multifaced nature of this integrin, at least in cultured dermal fibroblasts, offering future perspectives for research in this field. PMID:29587413

Assessment of bone in Ehlers Danlos syndrome by ultrasound and densitometry.

PubMed

Dolan, A L; Arden, N K; Grahame, R; Spector, T D

1998-10-01

Ehlers Danlos syndrome (EDS) is an inherited disorder of connective tissue characterised by hyperextensible skin, joint laxity, and easy bruising. There are phenotypic similarities with osteogenesis imperfecta, but in EDS a tendency to fracture or altered bone mass has not previously been considered to be a cardinal feature. This case-control design study investigates whether 23 patients with EDS had differences in fracture rates, bone mass, and calcaneal ultrasound parameters compared with age and sex matched controls. 23 cases of EDS (mean (SD) age 38.5 (15.5)) were compared with 23 controls (mean age 37.8 (14.5)). A significant reduction in bone density measured by dual energy x ray absorptiometry was found at the neck of femur by 0.9 SD, p = 0.05, and lumbar spine by 0.74 SD, p = 0.02. At the calcaneum, broad band ultrasound attenuation and speed of sound were significantly reduced compared with controls by 0.95 SD (p = 0.004) and 0.49 SD (p = 0.004) for broad band ultrasound attenuation and speed of sound respectively. Broad band ultrasound attenuation and speed of sound remained significantly reduced after adjusting for bone mineral density (BMD). After adjusting for functional status (HAQ), age and sex, hypermobility was inversely correlated with broad band ultrasound attenuation and SOS, but not BMD at hip or spine. Previous fracture was 10 times more common in EDS (p < 0.001), with 86.9% of patients reporting a total of 47 low impact fractures, compared with 8.7% of controls. This study has identified a tendency of EDS patients to fracture, have low bone mass and abnormal bone structure. The aetiology is likely to be multifactorial, with an inherited structural element, accentuated by immobility or reduced exercise. This is one of the first clinical studies to suggest ultrasound can detect structural differences in bone, independent of dual energy x ray absorptiometry.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

PubMed

Davidson, Alice E; Borasio, Edmondo; Liskova, Petra; Khan, Arif O; Hassan, Hala; Cheetham, Michael E; Plagnol, Vincent; Alkuraya, Fowzan S; Tuft, Stephen J; Hardcastle, Alison J

2015-01-06

Brittle cornea syndrome 1 (BCS1) is a rare recessive condition characterized by extreme thinning of the cornea and sclera, caused by mutations in ZNF469. Keratoconus is a relatively common disease characterized by progressive thinning and ectasia of the cornea. The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease. We investigated the phenotype of BCS1 carriers with known pathogenic ZNF469 mutations, and recruited families in which aggregation of keratoconus was observed to establish if rare variants in ZNF469 segregated with disease. Patients and family members were recruited and underwent comprehensive anterior segment examination, including corneal topography. Blood samples were donated and genomic DNA was extracted. The coding sequence and splice sites of ZNF469 were PCR amplified and Sanger sequenced. Four carriers of three BCS1-associated ZNF469 loss-of-function mutations (p.[Glu1392Ter], p.[Gln1930Argfs*6], p.[Gln1930fs*133]) were examined and none had keratoconus. One carrier had partially penetrant features of BCS1, including joint hypermobility. ZNF469 sequencing in 11 keratoconus families identified 9 rare (minor allele frequency [MAF] ≤ 0.025) variants predicted to be potentially damaging. However, in each instance the rare variant(s) identified, including two previously reported as potentially keratoconus-associated, did not segregate with the disease. The presence of heterozygous loss-of-function alleles in the ZNF469 gene did not cause keratoconus in the individuals examined. None of the rare nonsynonymous ZNF469 variants identified in the familial cohort conferred a high risk of keratoconus; therefore, genetic variants contributing to disease pathogenesis in these 11 families remain to be identified. Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

[Characteristics in treatment of the hip in patients with Down syndrome].

PubMed

Peterlein, C-D; Schiel, M; Timmesfeld, N; Schofer, M D; Eberhardt, O; Wirth, T; Fernandez, F F

2013-12-01

The treatment of hip instability in patients with Down syndrome is challenging. We have performed different pelvic osteotomies and corrections at the proximal femur for this indication. This retrospective study was conducted to evaluate the clinical and radiological outcome of each intervention. All in all, 166 patients with Down syndrome were treated at our orthopaedic department in the observation period. Problems related to the hip joint were diagnosed in 63 of those patients. Only patients who underwent surgery were included in this study. The charts and X-rays of these 31 patients were evaluated with respect to the following parameters: incidence of the hip problem, concomitant diseases, temporal progress, kind of operation method and date, duration of stay in the hospital, after-care, follow-on surgery related to complications, AC angle, CE angle, ACM angle, CCD angle, index of migration according to Reimers, classification of Bauer and Kerschbauer and general morphology of the femoral head. The group was compared with an age-matched group of 21 patients with hip dysplasia. Those patients underwent the same sort of operation in the same year. In the Morbus Down group, we performed surgery for preservation of the hip in 49 cases. This included 13 osteotomies according to Chiari, 11 triple osteotomies according to Tönnis, 10 corrections by femoral varus derotation osteotomy, 8 pelvic osteotomies according to Pemberton, 5 pelvic osteotomies according to Salter and 2 open reductions of the hip. With respect to the moment of surgery, we detected three peaks of age. There was no difference in course of disease and quantity of complications between the groups. Satisfactory results concerning clinical and radiological outcome were achieved predominantly by complete redirectional acetabular osteotomies. Half of the patients who were solely treated by femoral varus derotation osteotomy needed follow-on surgery in the form of pelvic osteotomy. Comparison of preoperative and postoperative range of motion of the hip joint between groups detected capsular insufficiency, increased ligamentous laxity and muscular hypotonia in patients with Down syndrome. Comparison of pelvic radiographs demonstrated significant improvement concerning measured angles in both groups. Preoperative values with respect to AC angle and CE angle were demonstrated to be lower in the hip dysplasia group (p < 0.01); whereas values for ACM angle were comparable between groups. Hypermobility and secondary dislocation of the hip joint is a common problem in patients with Down syndrome, which often requires surgical intervention at an early stage. According to our data and clinical results we suggest a complete redirectional acetabular osteotomy in combination with capsular plication for treatment of this challenging condition. Georg Thieme Verlag KG Stuttgart · New York.

Sonography of greater trochanteric pain syndrome and the rarity of primary bursitis.

PubMed

Long, Suzanne S; Surrey, David E; Nazarian, Levon N

2013-11-01

Greater trochanteric pain syndrome is a common condition with clinical features of pain and tenderness at the lateral aspect of the hip. Diagnosing the origin of greater trochanteric pain is important because the treatment varies depending on the cause. We hypothesized that sonographic evaluation of sources for greater trochanteric pain syndrome would show that bursitis was not the most commonly encountered abnormality. We performed a retrospective review of musculoskeletal sonographic examinations performed at our institution over a 6-year period for greater trochanteric pain syndrome; completed a tabulation of the sonographic findings; and assessed the prevalence of trochanteric bursitis, gluteal tendon abnormalities, iliotibial band abnormalities, or a combination of findings. Prevalence of abnormal findings, associations of bursitis, gluteal tendinosis, gluteal tendon tears, and iliotibial band abnormalities were calculated. The final study population consisted of 877 unique patients: 602 women, 275 men; average age, 54 years; and age range, 15-87 years). Of the 877 patients with greater trochanteric pain, 700 (79.8%) did not have bursitis on ultrasound. A minority of patients (177, 20.2%) had trochanteric bursitis. Of the 877 patients with greater trochanteric pain, 438 (49.9%) had gluteal tendinosis, four (0.5%) had gluteal tendon tears, and 250 (28.5%) had a thickened iliotibial band. The cause of greater trochanteric pain syndrome is usually some combination of pathology involving the gluteus medius and gluteus minimus tendons as well as the iliotibial band. Bursitis is present in only the minority of patients. These findings have implications for treatment of this common condition.

[Etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype wrist movements].

PubMed

Lewańska, Magdalena; Walusiak-Skorupa, Jolanta

2014-01-01

Carpal tunnel syndrome (CTS) is the most common neuropathy of upper limbs and a leading cause of upper extremity musculoskeletal disorders, in terms of work exposure, repetitive and forceful exertions of the hand and use of vibrating hand tools. The aim of the study was to evaluate etiological factors of carpal tunnel syndrome in subjects occupationally exposed to monotype movements in wrist. We conducted the retrospective analysis of 300 patients (261 women, 39 men), mean age 52 years (standard deviation: +/-6.93) hospitalized with the suspicion of occupational CTS. The study revealed high percentage (68.7%) of diseases and systemic factors involved in the pathogenesis of CTS in the analyzed population, especially obesity (32%), thyroid diseases (28.7%), hormone replacement therapy and/or oophorectomy (16.3%) and diabetes mellitus (12%). In 111 patients the coexistence of at least a couple of potential etiological factors of the neuropathy was recognized. Clinical analysis and occupational exposure allowed to diagnose occupational carpal tunnel syndrome in 18 (6%) patients only. The undeniable long-term (20(.2+/-9.3 years) occupational exposure to repetitive, forceful movements in the wrist was observed in this group. The results of our study indicated that non-occupational etiological factors of CTS predominated and in 37% of patients at least several factors were found. The analysis showed the high prevalence of CTS in workers employed in various sectors of industry, including so called "blue collar" workers. Our study confirmed the multifactorial etiology of carpal tunnel syndrome, however, occupational agents contributed to only 6% of cases.

Low peak jump power is associated with elevated odds of dysmobility syndrome in community-dwelling elderly individuals: the Korean Urban Rural Elderly (KURE) study.

PubMed

Hong, Namki; Kim, Chang Oh; Youm, Yoosik; Kim, Hyeon Chang; Rhee, Yumie

2018-06-01

In a community-dwelling elderly cohort (Korean Urban Rural Elderly), low peak jump power was associated with elevated odds of dysmobility syndrome and its components, independent of age and comorbidities. Jump power measurement improved discrimination of individuals with dysmobility syndrome when added to conventional risk factors. Dysmobility syndrome was proposed to encompass the risks affecting musculoskeletal outcomes. Jump power measurement is a safe, reproducible high-intensity test for physical function in elderly. However, the relationship between jump power and dysmobility syndrome remains unknown. A total of 1369 subjects (mean 71.6 years; women, 66%) were analyzed from a community-based cohort. Dysmobility syndrome was defined as the presence of ≥ 3 factors among falls in the preceding year, low lean mass, high fat mass, osteoporosis, low grip strength, and low timed get-up-and-go (TUG) performance. Subjects were grouped into tertiles of jump power relative to weight based on sex-stratified cutoffs (32.4 and 27.6 W/kg in men; 23.9 and 19.9 W/kg in women) or into the failed-to-jump group. The prevalence of dysmobility syndrome was 20% overall, increasing from the highest (T1) to lowest (T3) jump power tertile (1, 11, 15% in men; 11, 16, 39% in women) and the failed-to-jump group (39% in men; 48% in women). Low jump power or failed-to-jump was associated with elevated odds of dysmobility syndrome (T3 vs. T1, adjusted odds ratio [aOR] 4.35, p < 0.001; failed-to-jump vs. T1, aOR 7.60, p < 0.001) and its components including falls, low lean mass, high fat mass, and poor TUG performance but not osteoporosis after adjustment for covariates. Jump power modestly discriminated dysmobility syndrome (area under the curve [AUC], 0.71, p < 0.001), which improved discriminatory performance when added to conventional risk factors (AUC, from 0.75 to 0.79, p < 0.001). Low peak jump power was associated with elevated odds of dysmobility syndrome and its components, independent of age and comorbidities.

Development and validation of a musculoskeletal physical examination decision-making test for medical students.

PubMed

Bishop, Julie Y; Awan, Hisham M; Rowley, David M; Nagel, Rollin W

2013-01-01

Despite a renewed emphasis among educators, musculoskeletal education is still lacking in medical school and residency training programs. We created a musculoskeletal multiple-choice physical examination decision-making test to assess competency and physical examination knowledge of our trainees. We developed a 20-question test in musculoskeletal physical examination decision-making test with content that most medical students and orthopedic residents should know. All questions were reviewed by ratings of US orthopedic chairmen. It was administered to postgraduate year 2 to 5 orthopedic residents and 2 groups of medical students: 1 group immediately after their 3-week musculoskeletal course and the other 1 year after the musculoskeletal course completion. We hypothesized that residents would score highest, medical students 1 year post-musculoskeletal training lowest, and students immediately post-musculoskeletal training midrange. We administered an established cognitive knowledge test to compare student knowledge base as we expected the scores to correlate. Academic medical center in the Midwestern United States. Orthopedic residents, chairmen, and medical students. Fifty-four orthopedic chairmen (54 of 110 or 49%) responded to our survey, rating a mean overall question importance of 7.12 (0 = Not Important; 5 = Important; 10 = Very Important). Mean physical examination decision-making scores were 89% for residents, 77% for immediate post-musculoskeletal trained medical students, and 59% 1 year post-musculoskeletal trained medical students (F = 42.07, p<0.001). The physical examination decision-making test was found to be internally consistent (Kuder-Richardson Formula 20 = 0.69). The musculoskeletal cognitive knowledge test was 78% for immediate post-musculoskeletal trained students and 71% for the 1 year post-musculoskeletal trained students. The student physical examination and cognitive knowledge scores were correlated (r = 0.54, p<0.001), but were not significantly different for either class. The physical examination decision-making test was found to be internally consistent in exposing the deficiencies of musculoskeletal education skills of our medical students and differentiated between ability levels in musculoskeletal physical examination decision-making (residents vs recently instructed musculoskeletal students vs 1 year post-musculoskeletal instruction). Copyright © 2013 Association of Program Directors in Surgery. Published by Elsevier Inc. All rights reserved.

Generalised Joint Hypermobility in Caucasian Girls with Idiopathic Scoliosis: Relation with Age, Curve Size, and Curve Pattern

PubMed Central

2014-01-01

The aim of the study was to assess the prevalence of generalised joint hypermobility (GJH) in 155 girls with idiopathic scoliosis (IS) (age 9–18 years, mean 13.8 ± 2.3). The control group included 201 healthy girls. The presence of GJH was assessed with Beighton (B) test. GJH was diagnosed in 23.2% of IS girls and in 13.4% of controls (P = 0.02). The prevalence of GJH was significantly (P = 0.01) lower in IS girls aged 16–18 years in comparison with younger individuals. There was no difference regarding GJH occurrence between girls with mild (11–24°), moderate (25–40°), and severe scoliosis (>40°) (P = 0.78), between girls with single thoracic, single lumbar, and double curve scoliosis (P = 0.59), and between girls with thoracic scoliosis length ≤7 and >7 vertebrae (P = 0.25). No correlation between the number of points in B and the Cobb angle (P = 0.93), as well as between the number of points in B and the number of the vertebrae within thoracic scoliosis (P = 0.63), was noticed. GJH appeared more often in IS girls than in healthy controls. Its prevalence decreased with age. No relation between GJH prevalence and curve size, curve pattern, or scoliosis length was found. PMID:24550704

77 FR 27470 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PubMed

Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T R M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert B A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P A; Stevens, Servi J C; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka E L M; Ahn, Eun-Young Erin

2016-09-01

The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndrome is characterized by ID and/or DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Knockdown of son in zebrafish resulted in severe malformation of the spine, brain, and eyes. Importantly, analyses of RNA from affected individuals revealed that genes critical for neuronal migration and cortex organization (TUBG1, FLNA, PNKP, WDR62, PSMD3, and HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA) are significantly downregulated because of the accumulation of mis-spliced transcripts resulting from erroneous SON-mediated RNA splicing. Our data highlight SON as a master regulator governing neurodevelopment and demonstrate the importance of SON-mediated RNA splicing in human development. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Local treatment of tendinopathies and myofascial pain syndromes with the 5-HT3 receptor antagonist tropisetron.

PubMed

Müller, W; Stratz, T

2004-01-01

The use of local tropisetron injections improved the treatment of tendinopathies considerably, with the effect being comparable to the topical application of local anaesthetics combined with depot corticosteroids. On the other hand, local injection of prilocaine alone exerted a shorter and weaker effect on the condition. After it had been proven that systemic application of the 5-HT3 receptor antagonist tropisetron exerts an analgesic effect on musculoskeletal pain in fibromyalgia, we investigated the efficacy of the substance in tendinopathies and myofascial pain syndromes. Local injections of tropisetron as a treatment for trigger points in myofascial pain syndrome also brought about rapid and prolonged relief in the majority of cases. The analgesic effect was far superior to the action of local anaesthetics. The present findings indicate that the analgesic action of the 5-HT3 receptor antagonist tropisetron sets in rapidly and lasts for a long time. Various mechanisms are under discussion to explain the long duration of the effect. Tropisetron not only has an analgesic but probably also an antiphlogistic effect which can be attributed to the inhibited release of substance P and other neuropeptides from the nociceptors and the blocked release of phlogistic substances from macrophages, monocytes etc.

Advances in diagnostic and treatment options in patients with fibromyalgia syndrome

PubMed Central

Gur, Ali; Oktayoglu, Pelin

2009-01-01

Fibromyalgia (FM) is characterized as a chronic, painful, noninflammatory syndrome affecting the musculoskeletal system. In addition to pain, common co-morbid symptoms associated with FM include sleep disturbances, fatigue, morning stiffness, affective disorders, chronic daily headache, dyscognition, irritable bowel syndrome, and irritable bladder. Fibromyalgia is usually classified by application of the American College of Rheumatology (ACR) criteria. Although these criteria are accepted among investigators who agree with the concept of fibromyalgia, they do so with some reservations. Tender points and widespread pain alone does not describe the esence of fibromyalgia. New diagnostic tools including either clinical or radiological components are studied to diminish these problems. Although various pharmacological solutions have been studied for treating fibromyalgia, no single drug or groups of drugs have proved to be useful in treating fibromyalgia patients. Recently, three drugs, pregabalin, duloxetine and milnacipran, were approved for the treatment of FM by the US Food and Drug Administration (FDA). Novel therapeutic approaches to the management of FM include cannabinoids, sodium channel blockade and new generation antiepileptics. This review evaluates both new diagnostic tools, including clinical or radiological regimes, and tries to highlight the efficacy of medicinal and nonmedicinal treatments with new therapeutic approaches in the management of FM with a wide perspective. PMID:27789991

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

PubMed

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

2008-07-15

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

Computer vision elastography: speckle adaptive motion estimation for elastography using ultrasound sequences.

PubMed

Revell, James; Mirmehdi, Majid; McNally, Donal

2005-06-01

We present the development and validation of an image based speckle tracking methodology, for determining temporal two-dimensional (2-D) axial and lateral displacement and strain fields from ultrasound video streams. We refine a multiple scale region matching approach incorporating novel solutions to known speckle tracking problems. Key contributions include automatic similarity measure selection to adapt to varying speckle density, quantifying trajectory fields, and spatiotemporal elastograms. Results are validated using tissue mimicking phantoms and in vitro data, before applying them to in vivo musculoskeletal ultrasound sequences. The method presented has the potential to improve clinical knowledge of tendon pathology from carpel tunnel syndrome, inflammation from implants, sport injuries, and many others.

[Occupation-specific illnesses in musicians].

PubMed

Schuppert, M; Altenmüller, E

1999-12-01

Performance-related disorders in musicians are most often caused by multiple risk factors. They are based on the chronic complex, rapid and forceful work that requires highest precision, as well as on poor ergonomic conditions and psychological strain. Predominantly, the musculo-skeletal system of the upper extremity and the spine is affected by acute or chronic pain syndromes and neurological disorders. Stage fright and psychological tension frequently generate somatoform disorders and may contribute to the chronification of physical disabilities in musicians. Depending on the individual characteristics, the actual professional activity and the specific instrument, the performance-related risk factors and disorders differ widely. Early and regular prevention clearly contributes to a reduction of medical problems in musicians.

Use of Complementary Health Approaches for Musculoskeletal Pain Disorders Among Adults: United States, 2012.

PubMed

Clarke, Tainya C; Nahin, Richard L; Barnes, Patricia M; Stussman, Barbara J

2016-10-01

This report examines the use of complementary health approaches among U.S. adults aged 18 and over who had a musculoskeletal pain disorder. Prevalence of use among this population subgroup is compared with use by persons without a musculoskeletal disorder. Use for any reason, as well as specifically to treat musculoskeletal pain disorders, is examined. Using the 2012 National Health Interview Survey, estimates of the use of complementary health approaches for any reason, as well as use to treat musculoskeletal pain disorders, are presented. Statistical tests were performed to assess the significance of differences between groups of complementary health approaches used among persons with specific musculoskeletal pain disorders. Musculoskeletal pain disorders included lower back pain, sciatica, neck pain, joint pain or related conditions, arthritic conditions, and other musculoskeletal pain disorders not included in any of the previous categories. Respondents could report having more than one disorder. In 2012, 54.5% of U.S. adults had a musculoskeletal pain disorder. The use of any complementary health approach for any reason among persons with a musculoskeletal pain disorder (41.6%) was significantly higher than use among persons without a musculoskeletal pain disorder (24.1%). Among adults with any musculoskeletal pain disorder, the use of natural products for any reason (24.7%) was significantly higher than the use of mind and body approaches (15.3%), practitioner-based approaches (18.2%), or whole medical system approaches (5.3%). The pattern of use of the above-mentioned groups of complementary health approaches was similar for persons without a musculoskeletal disorder. However, prevalence of use among these persons was significantly lower compared with persons with a musculoskeletal disorder. For treatment, the use of practitioner-based approaches among persons with any musculoskeletal pain disorder (9.7%) was more than three times as high as the use of any other group of approaches (0.7%-3.1%). The patterns of use of specific groups of complementary health approaches also differed among specific musculoskeletal pain disorders. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source, however, is appreciated.

Associations between multimorbidity and additional burden for working-age adults with specific forms of musculoskeletal conditions: a cross-sectional study.

PubMed

Lowe, Dianne B; Taylor, Michael J; Hill, Sophie J

2017-04-04

Multiple health conditions are increasingly a problem for adults with musculoskeletal conditions. However, multimorbidity research has focused primarily on the elderly and those with a limited subset of musculoskeletal disorders. We sought to determine whether associations between multimorbidity and additional burden differ with specific forms of musculoskeletal conditions among working-age adults. Data were sourced from a nationally representative Australian survey. Specific musculoskeletal conditions examined were osteoarthritis; inflammatory arthritis; other forms of arthritis or arthropathies; musculoskeletal conditions not elsewhere specified; gout; back pain; soft tissue disorders; or osteoporosis. Multimorbidity was defined as the additional presence of one or more of the Australian National Health Priority Area conditions. Burden was assessed by self-reported measures of: (i) self-rated health (ii) musculoskeletal-related healthcare and medicines utilisation and, (iii) general healthcare utilisation. Associations between multimorbidity and additional health or healthcare utilisation burden among working-age adults (aged 18 - 64 years of age) with specific musculoskeletal conditions were estimated using logistic regression, adjusting for confounders. Interaction terms were fitted to identify whether there were specific musculoskeletal conditions where multimorbidity was more strongly associated with poorer health or greater healthcare utilisation than in the remaining musculoskeletal group. Among working-age adults, for each of the specified musculoskeletal conditions, multimorbidity was associated with similar, increased likelihood of additional self-rated health burden and certain types of healthcare utilisation. While there were differences in the relationships between multimorbidity and burden for each of the specific musculoskeletal conditions, no one specific musculoskeletal condition appeared to be consistently associated with greater additional health burden in the presence of multimorbidity across the majority of self-rated health burden and healthcare use measures. For working-age people with any musculoskeletal conditions examined here, multimorbidity increases self-reported health and healthcare utilisation burden. As no one musculoskeletal condition appears consistently worse off in the presence of multimorbidity, there is a need to better understand and identify strategies that acknowledge and address the additional burden of concomitant conditions for working-age adults with a range of musculoskeletal conditions.

The salivary proteome profile in patients affected by SAPHO syndrome characterized by a top-down RP-HPLC-ESI-MS platform.

PubMed

Sanna, Monica; Firinu, Davide; Manconi, Paolo Emilio; Pisanu, Maria; Murgia, Giuseppe; Piras, Valentina; Castagnola, Massimo; Messana, Irene; del Giacco, Stefano Renato; Cabras, Tiziana

2015-06-01

SAPHO syndrome is a rare and often unrecognized disease with prominent inflammatory cutaneous and articular symptoms characterized by musculoskeletal manifestations (synovitis, hyperostosis, osteomyelitis) associated with dermatological conditions (severe acne and pustulosis). The acidic soluble fraction of whole saliva from 10 adult women affected by SAPHO syndrome and from a group of 28 healthy women was analysed by RP-HPLC-ESI-MS with the aim of discovering salivary biomarkers of the disorder. The levels of the oral proteins and peptides were correlated with clinical data. The following proteins showed a significant decreased concentration in saliva of SAPHO subjects with respect to controls: cystatin S1 and SN, histatins, the major acidic PRPs, P-C and P-B peptides. The cystatin SN abundance lowered according to the disease duration and histatins showed positive correlations with the C reactive protein. Statistical analysis performed excluding one patient with a different pattern of salivary proteins/peptides highlighted a positive relationship between cystatin S1, histatins 3, histatin 5, and the neutrophil count. Moreover, histatin 3 correlated positively with the total white cell count and negatively with the erythrocyte sedimentation rate. Levels and frequency of S100A12 protein showed a trend to increase in SAPHO patients. The high expression of this pro-inflammatory protein is probably related to the inflammatory response and to the altered neutrophil responses to functional stimuli that characterize SAPHO syndrome suggesting a possible application as a salivary biomarker.

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication

PubMed Central

Giri, Dinesh; Patil, Prashant; Hart, Rachel; Didi, Mohammed

2017-01-01

Summary Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks’ gestation with birth weight of 3.33 kg (−0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8, KCNJ11 and HNF4A did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13–14 region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the HK1 located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. Learning points: Congenital hyperinsulinism (CHI) is known to be associated with various syndromes. This is the first reported association of CHI and Poland syndrome (PS) with duplication in 10p13–14. A potential underlying genetic link between 10p13–14 duplication, PS and CHI is a possibility. PMID:28458900

[A case report on Waardenburg syndrome with cleft lip].

PubMed

Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

2011-01-01

The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

Reliability and validity of the Korean version of the Short Musculoskeletal Function Assessment questionnaire for patients with musculoskeletal disorder.

PubMed

Jung, Kyoung-Sim; Jung, Jin-Hwa; In, Tae-Sung; Cho, Hwi-Young

2016-09-01

[Purpose] The purpose of this study was to establish the reliability and validity of the Short Musculoskeletal Function Assessment questionnaire, which was translated into Korean, for patients with musculoskeletal disorder. [Subjects and Methods] Fifty-five subjects (26 males and 29 females) with musculoskeletal diseases participated in the study. The Short Musculoskeletal Function Assessment questionnaire focuses on a limited range of physical functions and includes a dysfunction index and a bother index. Reliability was determined using the intraclass correlation coefficient, and validity was examined by correlating short musculoskeletal function assessment scores with the 36-item Short-Form Health Survey (SF-36) score. [Results] The reliability was 0.97 for the dysfunction index and 0.94 for the bother index. Validity was established by comparison with Korean version of the SF-36. [Conclusion] This study demonstrated that the Korean version of the Short Musculoskeletal Function Assessment questionnaire is a reliable and valid instrument for the assessment of musculoskeletal disorders.

The Association of Workplace Psychosocial Factors and Musculoskeletal Pain Among Korean Emotional Laborers.

PubMed

Baek, Kiook; Yang, Seonhee; Lee, Miyoung; Chung, Insung

2018-06-01

Many studies have reported negative psychological or physical effects of emotional labor. Relationship between work-related musculoskeletal disorder and psychosocial factors has been reported. To manage organizational and psychosocial factors of musculoskeletal disorder with work place intervention among emotional laborers, the factors contributing to musculoskeletal pain must be identified and clarified. Data from the fourth Korean Working Conditions Survey was analyzed. Based on the questionnaire, we selected emotional laborers and included 3,979 participants, excluding participants whose variables were of interest to the researcher. Weight variable was applied. The association with musculoskeletal pain and psychosocial factors, such as workload, monotonous work, job control, social support, and job satisfaction, was investigated. Univariate analysis demonstrated that there was a statistically significant relationship between social support, job satisfaction, and musculoskeletal pain. In multivariate analysis, job satisfaction showed a strong correlation with musculoskeletal pain at all sites. Social support was significantly associated with backache. Monotonous work seemed to reduce the pain in the neck and/or upper limbs. Job control and work intensity were not significantly associated with musculoskeletal pain. In this study, job satisfaction was significantly associated with musculoskeletal pain, and social support among the social psychological stressors could reduce musculoskeletal pain. However, unlike previously known, the presence of monotonous work resulted in reduced musculoskeletal pain. The results of this study will help to establish the direction of improvement of atmosphere in the workplace to prevent the musculoskeletal pain of emotional laborers.

A Universal Rig for Supporting Large Hammer Drills: Reduced Injury Risk and Improved Productivity

PubMed Central

Rempel, David; Barr, Alan

2015-01-01

Drilling holes into concrete with heavy hammer and rock drills is one of the most physically demanding tasks performed in commercial construction and poses risks for musculoskeletal disorders, noise induced hearing loss, hand arm vibration syndrome and silicosis. The aim of this study was to (1) use a participatory process to develop a rig to support pneumatic rock drills or large electric hammer drills in order to reduce the health risks and (2) evaluate the usability of the rig. Seven prototype rigs for supporting large hammer drills were developed and modified with feedback from commercial contractors and construction workers. The final design was evaluated by laborers and electricians (N=29) who performed their usual concrete drilling with the usual method and the new rig. Subjective regional fatigue was significantly less in the neck, shoulders, hands and arms, and lower back) when using the universal rig compared to the usual manual method. Usability ratings for the rig were significantly better than the usual method on stability, control, drilling, accuracy, and vibration. Drilling time was reduced by approximately 50% with the rig. Commercial construction contractors, laborers and electricians who use large hammer drills for drilling many holes should consider using such a rig to prevent musculoskeletal disorders, fatigue, and silicosis. PMID:26005290

Specific and non-specific upper extremity musculoskeletal disorder syndromes in automobile manufacturing workers.

PubMed

Gold, Judith E; d'Errico, Angelo; Katz, Jeffrey N; Gore, Rebecca; Punnett, Laura

2009-02-01

A longitudinal cohort of automobile manufacturing workers (n = 1,214) was examined for: (1) prevalence and persistence of specific upper extremity musculoskeletal disorders (UEMSDs) such as lateral epicondylitis and de Quervain's disease, and non-specific disorders (NSDs) defined in symptomatic individuals without any specific disorder, and (2) disorder prognoses based on symptom characteristics and other factors. Eight specific disorders were identified through case definitions based on upper extremity physical examinations and symptom surveys administered on three occasions over 6 years. At baseline, 41% of the cohort reported upper extremity symptoms; 18% (n = 214) of these had NSDs. In each survey, tendon-related conditions accounted for over half of the specific morbidity. Twenty-five percent had UEMSDs in multiple anatomical sites, and most with hand/wrist disorders had two or more hand/wrist UEMSDs. Persistence for all specific disorders decreased with length of follow-up. Specific UEMSDs were characterized by greater pain severity and functional impairment, and more lost work days than NSDs. Upper extremity symptoms and diagnoses vary over time. NSDs may be the early stages of conditions that will eventually become more specific. NSDs and overlapping specific UEMSDs should be taken into account in UEMSD classification. Am. J. Ind. Med. 52:124-132, 2009. (c) 2008 Wiley-Liss, Inc.

The reality of the women who make our lives easier: experience in a company that assemblies electric motors in Venezuela.

PubMed

Yanes Escalona, L; Sandia Venot, R; Escalona, E; Yanes, L

2012-01-01

intervene a workline throughout ergonomic approach to diminish incidence of Carpal Tunnel Syndrome (CTS). an ergonomic intervention study was developed in workstations with highest index of musculoskeletal disorder (MED) associated to cumulative trauma. The Deparis method, Reba and Ocra check list methods were used, also morbility reviewes. National and international ethics criteria were carried out. workers identified 3 fundamental issues using the Deparis method: repetitive activities, postures adopted and uncomfortable furniture. The analysis of the workstation with Reba and Ocra methods before the changes, evidenciated that 56% of postures adopted were high risk postures, the 44% remaining were medium and low-risk. Following the active pause program (APP), furniture changes and work rhythm decrease, was noted that the risk of suffering MED decreased. The morbility review, drop in consults of musculoskeletal system (MES) related to CTS observed. The APP was well accepted by women, but not initially men. the research show that when the work rhythm decreases, the symptom of MES related to CTS have a remarkable decrease, also that changes in the furniture, generate great ergonomic differences and changes in the work environment are not possible if workers don't empower the tools to make-it.

Neck-upper extremity musculoskeletal disorders among workers in the telecommunications company at Mansoura City.

PubMed

El-Bestar, Sohair Fouad; El-Mitwalli, Ashraf Abdel-Moniem; Khashaba, Eman Omar

2011-01-01

This study was to determine the prevalence and work-related risk factors of neck-upper extremity musculoskeletal disorders (MSDs) among video display terminal (VDT) users. A comparative cross-sectional study was conducted; there were 60 VDT users and 35 controls. The participants filled in a structured questionnaire, had electrophysiological tests and an X-ray of the neck. The prevalence of MSDs was higher (28.3%) among VDTs users compared to controls (14.3%) with no statistically significant difference. The prevalence of cervical disorders with or without radiculopathy (18.3%) was the most common disorder followed by carpal tunnel syndrome (6.6%). The mean (SD) age of MSD cases (51 ± 7.2 years) was statistically significantly higher than of the controls (42.8 ± 9). Physical exposure to prolonged static posture (OR: 6.9; 95% CI: 0.83-57.9), awkward posture (OR: 5.5; 95% CI: 0.6-46.4) and repetitive movements (OR: 5.5; 95% CI: 0.65-46.4) increased risk of MSDs with a statistically significant difference for static posture only (p < .05). VDT users experienced more job dissatisfaction, work-overload and limited social support from supervisors and colleagues. VDT use did not increase the risk of neck-upper extremity MSDs. The risk increased with older age and static posture.

Relationship between Comorbid Health Problems and Musculoskeletal Disorders Resulting in Musculoskeletal Complaints and Musculoskeletal Sickness Absence among Employees in Korea.

PubMed

Baek, Ji Hye; Kim, Young Sun; Yi, Kwan Hyung

2015-06-01

To investigate the relationship between musculoskeletal disorders and comorbid health problems, including depression/anxiety disorder, insomnia/sleep disorder, fatigue, and injury by accident, and to determine whether certain physical and psychological factors reduce comorbid health problems. In total, 29,711 employees were selected from respondents of the Third Korean Working Conditions Survey and categorized into two groups: Musculoskeletal Complaints or Musculoskeletal Sickness Absence. Four self-reported health indicators (overall fatigue, depression/anxiety, insomnia/sleep disorder, and injury by accident) were selected as outcomes, based on their high prevalence in Korea. We used multiple logistic regression analysis to determine the relationship between comorbid health problems, musculoskeletal complaints, and sickness absence. The prevalence of musculoskeletal complaints and musculoskeletal sickness absence due to muscular pain was 32.26% and 0.59%, respectively. Compared to the reference group, depression/anxiety disorder and overall fatigue were 5.2-6.1 times more prevalent in the Musculoskeletal Complaints Group and insomnia/sleep disorder and injury by accident were 7.6-11.0 times more prevalent in the Sickness Absence Group. When adjusted for individual and work-related physical factors, prevalence of all four comorbid health problems were slightly decreased in both groups. Increases in overall fatigue and depression/anxiety disorder were observed in the Musculoskeletal Complaints Group, while increases in insomnia/sleep disorder and injury by accident were observed in the Sickness Absence Group. For management of musculoskeletal complaints and sickness absence in the workplace, differences in health problems between employees with musculoskeletal complaints and those with sickness absence as well as the physical and psychological risk factors should be considered.

Commentary: the importance of musculoskeletal medicine and anatomy in medical education.

PubMed

Day, Charles S; Ahn, Christine S

2010-03-01

Medical schools in the United States have continued to demonstrate deficiencies in musculoskeletal education. In response to the findings of numerous studies and to the objectives of the U.S. Bone and Joint Decade (an international collaborative movement sanctioned by the United Nations and the World Health Organization for the purpose of promoting awareness of musculoskeletal disease), several institutions, including Harvard Medical School, have reassessed the preclinical musculoskeletal curriculum at their respective medical schools. A cross-sectional survey at Harvard in 2004 found that students lacked clinical confidence in dealing with the musculoskeletal system. In addition, only one quarter of the graduating class of medical students passed a nationally validated exam in basic musculoskeletal competency. In 2005, 33 total hours of musculoskeletal medicine were added to the musculoskeletal blocks of the preclinical anatomy, pathophysiology, and physical examination courses. Alongside this movement toward more musculoskeletal education, there has been continued debate over the relevance and cost-effectiveness of cadaveric and surface anatomy labs. With the advent of advanced imaging technology, some argue that dissection anatomy is outdated and labor-intensive, whereas three-dimensional images are more accessible and time-effective for today's students. However, knowledge of anatomy is a critical foundation to learning musculoskeletal medicine. Thus, making room for more musculoskeletal curriculum time by cutting out cadaveric anatomy labs may ultimately be counterproductive.

Analyzing musculoskeletal system discomforts and risk factors in computer-using office workers.

PubMed

Ardahan, Melek; Simsek, Hatice

2016-01-01

This study analyzed the prevalence of work-related computer-user musculoskeletal discomforts, personal and computer-related risk factors. A cross-sectional survey on 395 office workers was made between July-September 2015. Musculoskeletal symptoms and risk factors were evaluated for participants' demographics and job attributes on the 21-item questionnaire and the Turkish-Cornell Musculoskeletal Discomfort Questionnaire. Participants reported musculoskeletal symptoms in the neck (67.85%), back (66.33%), lower back (59.49%), right shoulder (45.32%) and left shoulder (43.54%) during the past week and work interference was 33.6%, 28.5%, 30.6%, 31.3% and 31.9%, respectively. Musculoskeletal discomfort risks were being male, increasing daily computer usage, feeling computer-usage discomfort, hours working at desk and having knowledge about ergonomic exercises. Musculoskeletal symptoms are common in Turkish office workers and indicated the need for more attention to musculoskeletal disorders and designing effective preventive interventions.

Musculoskeletal modelling in dogs: challenges and future perspectives.

PubMed

Dries, Billy; Jonkers, Ilse; Dingemanse, Walter; Vanwanseele, Benedicte; Vander Sloten, Jos; van Bree, Henri; Gielen, Ingrid

2016-05-18

Musculoskeletal models have proven to be a valuable tool in human orthopaedics research. Recently, veterinary research started taking an interest in the computer modelling approach to understand the forces acting upon the canine musculoskeletal system. While many of the methods employed in human musculoskeletal models can applied to canine musculoskeletal models, not all techniques are applicable. This review summarizes the important parameters necessary for modelling, as well as the techniques employed in human musculoskeletal models and the limitations in transferring techniques to canine modelling research. The major challenges in future canine modelling research are likely to centre around devising alternative techniques for obtaining maximal voluntary contractions, as well as finding scaling factors to adapt a generalized canine musculoskeletal model to represent specific breeds and subjects.

Work-related musculoskeletal injuries in Prosthetists and Orthotists in Australia.

PubMed

Anderson, S; Stuckey, R; Oakman, J

2018-06-12

This study aims to determine the prevalence of work-related musculoskeletal disorders in prosthetists/orthotists working in Australia. Secondary to this, the relationship between work-related hazards and work-related musculoskeletal disorders will be examined. In 2012 a self-report survey was conducted with the prosthetist/orthotist workforce in Australia (N=139, 56% response rate). Data on workplace physical and psychosocial hazards, job satisfaction, work life balance and musculoskeletal discomfort were collected. Predictors of work-related musculoskeletal disorders were assessed using logistic regression analysis. Prevalence of work-related musculoskeletal disorders was 80%. Gender (β= 1.31, p=0.03), total weekly hours (β=0.9, p<0.01), Physical (β=1.91, p<0.01) and Psychosocial (β=1.28, p<0.01) hazards were all associated with reporting of work-related musculoskeletal disorders. Females reported higher levels of work-related musculoskeletal disorder discomfort than males in all body areas. Work-related musculoskeletal disorders prevalence is high in prosthetists/orthotists. This suggests that focus on work place injury prevention is required. Targeted prevention requires systematic identification and then control of all relevant workplace hazards.

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians

PubMed Central

Haug, Iris

2013-01-01

The cryopyrin-associated periodic syndrome (CAPS) is a very rare disease. It is estimated that there are 1–2 cases for every 1 million people in the US and 1 in every 360,000 in France. However, many patients are diagnosed very late or not at all, meaning the real prevalence is likely to be higher. CAPS encompasses the three entities of familial cold auto-inflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. They have in common a causative mutation in the NLRP3 gene. The altered gene product cryopyrin leads to activation of the inflammasome which in turn is responsible for excessive production of interleukin (IL)-1β. IL-1β causes the inflammatory manifestations in CAPS. These appear as systemic inflammation including fever, headache or fatigue, rash, eye disease, progressive sensorineural hearing loss, musculoskeletal manifestations and central nervous system (CNS) symptoms (NOMID/CINCA only). With the advent of IL-1 Inhibitors, safe and effective therapeutic options became available for this devastating disease. To prevent severe and possible life-threatening disease sequelae, early and correct diagnosis and immediate initiation of therapy are mandatory in most patients. Canakinumab is a fully human monoclonal IgG1 anti-IL-1β antibody. It provides selective and prolonged IL-1β blockade and has demonstrated a rapid (within hours), complete and sustained response in most CAPS patients without any consistent pattern of side effects. Long-term follow-up trials have demonstrated sustained efficacy, safety and tolerability. Canakinumab is approved by the US Food and Drug Administration for FCAS and MWS and by European Medicines Agency for treatment of all three phenotypes of CAPS. PMID:24294305

Cycling to School and Body Composition, Physical Fitness, and Metabolic Syndrome in Children and Adolescents.

PubMed

Ramírez-Vélez, Robinson; García-Hermoso, Antonio; Agostinis-Sobrinho, Cesar; Mota, Jorge; Santos, Rute; Correa-Bautista, Jorge Enrique; Amaya-Tambo, Deisy Constanza; Villa-González, Emilio

2017-09-01

To evaluate the association between cycling to/from school and body composition, physical fitness, and metabolic syndrome among a sample of Colombian children and adolescents. During the 2014-2015 school year, we examined a cross-sectional component of the Association for muscular strength with early manifestation of cardiovascular disease risk factors among Colombian children and adolescents (FUPRECOL) study. Participants included 2877 youths (54.5% girls) from Bogota, Colombia. A self-reported questionnaire was used to measure the frequency and mode of commuting to school. Four components of physical fitness were measured: (1) anthropometric (height, weight, body mass index, and waist circumference); (2) musculoskeletal (handgrip and standing long jump test); (3) motor (speed-agility test; 4 × 10-meter shuttle run); and (4) cardiorespiratory (20-m shuttle run test [20mSRT]). The prevalence of metabolic syndrome was determined by the definitions provided by the International Diabetes Federation. Twenty-three percent of the sample reported commuting by cycle. Active commuting boys had a likelihood of having an unhealthy 4 × 10 m value (OR, 0.72; 95% CI, 0.53-0.98; P = .038) compared with the reference group (passive commuters). Active commuting girls showed a lower likelihood of having unhealthy a 20mSRT value (OR, 0.81; 95% CI, 0.56-0.99; P = .047) and metabolic syndrome (OR, 0.61; 95% CI, 0.35-0.99; P = .048) compared with passive commuters. Regular cycling to school may to be associated with better physical fitness and a lower incidence of metabolic syndrome than passive transport, especially in girls. Copyright © 2017 Elsevier Inc. All rights reserved.

Risk Factors for Neck and Upper Extremity Disorders among Computers Users and the Effect of Interventions: An Overview of Systematic Reviews

PubMed Central

Andersen, Johan H.; Fallentin, Nils; Thomsen, Jane F.; Mikkelsen, Sigurd

2011-01-01

Background To summarize systematic reviews that 1) assessed the evidence for causal relationships between computer work and the occurrence of carpal tunnel syndrome (CTS) or upper extremity musculoskeletal disorders (UEMSDs), or 2) reported on intervention studies among computer users/or office workers. Methodology/Principal Findings PubMed, Embase, CINAHL and Web of Science were searched for reviews published between 1999 and 2010. Additional publications were provided by content area experts. The primary author extracted all data using a purpose-built form, while two of the authors evaluated the quality of the reviews using recommended standard criteria from AMSTAR; disagreements were resolved by discussion. The quality of evidence syntheses in the included reviews was assessed qualitatively for each outcome and for the interventions. Altogether, 1,349 review titles were identified, 47 reviews were retrieved for full text relevance assessment, and 17 reviews were finally included as being relevant and of sufficient quality. The degrees of focus and rigorousness of these 17 reviews were highly variable. Three reviews on risk factors for carpal tunnel syndrome were rated moderate to high quality, 8 reviews on risk factors for UEMSDs ranged from low to moderate/high quality, and 6 reviews on intervention studies were of moderate to high quality. The quality of the evidence for computer use as a risk factor for CTS was insufficient, while the evidence for computer use and UEMSDs was moderate regarding pain complaints and limited for specific musculoskeletal disorders. From the reviews on intervention studies no strong evidence based recommendations could be given. Conclusions/Significance Computer use is associated with pain complaints, but it is still not very clear if this association is causal. The evidence for specific disorders or diseases is limited. No effective interventions have yet been documented. PMID:21589875

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

PubMed

Levy, R; Gérard, L; Kuemmerle-Deschner, J; Lachmann, H J; Koné-Paut, I; Cantarini, L; Woo, P; Naselli, A; Bader-Meunier, B; Insalaco, A; Al-Mayouf, S M; Ozen, S; Hofer, M; Frenkel, J; Modesto, C; Nikishina, I; Schwarz, T; Martino, S; Meini, A; Quartier, P; Martini, A; Ruperto, N; Neven, B; Gattorno, M

2015-11-01

To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included. 136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss. Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

[Upper limb work-related musculoskeletal disorders (UL-WMSDs): a retrospective cohort study in three large factories of the upholstered furniture industry].

PubMed

Nicoletti, S; Consonni, D; Carino, M; Di Leone, G; Trani, G; Battevi, N; Colombini, Daniela; Ambrosi, L

2008-01-01

The epidemiological evidence of work-related musculoskeletal disorders (UL-WMSDs) due to repetitive strain and movements in the various industries has been collected in the literature mainly through cross-sectional surveys. In particular there are no contributions so far regarding the upholstered furniture industry with a longitudinal design. The aim of the study was to evaluate the incidence rate of WMSDs such as hand-wrist and shoulder tendonitis, carpal tunnel syndrome, and epicondylitis in exposed workers of three large companies of the upholstered furniture industry in a large geographic area of southern Italy. The OCRA method, recommended by international standard ISO 11228-3 and EN 1005-5, was used for risk assessment. The following work tasks were considered:.filling preparation workers, leather-cutting operators, sewing and upholstery-assembly workers. A total population of 5,278 subjects (exposed n=2927, controls n=2351) was investigated. The person/year at risk parameters were calculated from 1 January 2000, or from the date of engagement if later, until the first diagnosis of WMSD or, in absence of disorders, until the end of the study, i.e. 31 December 2004. Disorders occurring after the first were not considered. A multiple regression analysis was used to evaluate relationships between rates. Incidence rates correlated with risk classes of the OCRA index. An incidence rate of WMSDs higher than 1.2 cases per 100 person/year may be considered as a threshold value to suspect an occupational exposure to repetitive strain and movements warranting further investigation. The analysis of single factors did not show a greater predisposition of the female gender, with the single exception of the carpal tunnel syndrome (RR 2.92; 95% CI 1.57-5.43). Shoulder disorders affected mainly male leather-cutting operators (RR 4.97; 95% CI 2.03-12.16) and among all the factors influencing risk (frequency, force, posture, additional risk factors, pauses) posture seems to play a significant role.

[Factors Influencing Musculoskeletal Symptoms in Military Personnel during Basic Combat Training].

PubMed

Yi, Jeong Min; Kim, Gwang Suk

2016-08-01

This study was done to examine physical, psycho-social, and individual factors influencing musculoskeletal symptoms among Korean military trainees. Using a correlation study design, military trainees who had completed almost of all the basic combat training (BCT) days were recruited from two military training units selected by convenience sampling. Data from 415 participants were analyzed. Prevalence of musculoskeletal symptoms was 29.6% defined as a participant having pain or discomfort in one or more body parts during training hours for more than seven consecutive days. Back/pelvic (10.8%), knees (10.1%), shoulders (7.7%), feet/toes (5.6%), ankles (4.8%) were prone to musculoskeletal symptoms. Musculoskeletal symptoms appeared to be related to physical exertion during BCT, stress during BCT, social support from fellow trainees, or previous musculoskeletal injuries. In the logistic regression model, physical exertion during BCT (OR=2.27, 95% CI: 1.42~3.65), stress during BCT (OR=1.79, 95% CI: 1.15~2.78), and previous musculoskeletal injuries (OR=1.58, 95% CI: 1.01~2.47) were the significant factors affecting prevalence of musculoskeletal symptoms. Findings indicate that physical exertion and psycho-social stress should be managed to prevent musculoskeletal symptoms in military trainees with more attention being given to trainees having a history of musculoskeletal injuries.

Review of MRI technique and imaging findings in athletic pubalgia and the "sports hernia".

PubMed

Mullens, Frank E; Zoga, Adam C; Morrison, William B; Meyers, William C

2012-12-01

The clinical syndrome of athletic pubalgia has prematurely ended many promising athletic careers, has made many active, fitness conscious adults more sedentary, and has served as a diagnostic and therapeutic conundrum for innumerable trainers and physicians worldwide for decades. This diagnosis actually arises from one or more lesions within a spectrum of musculoskeletal and visceral injuries. In recent years, MRI has helped define many of these syndromes, and has proven to be both sensitive and specific for numerous potential causes of athletic pubalgia. This text will provide a comprehensive, up to date review of expected and sometimes unexpected MRI findings in the setting of athletic pubalgia, and will delineate an imaging algorithm and MRI protocol to help guide radiologists and other clinicians dealing with refractory, activity related groin pain in an otherwise young, healthy patient. There is still more to be learned about prevention and treatment plans for athletic pubalgia lesions, but accurate diagnosis should be much less nebulous and difficult with the use of MRI as a primary imaging modality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Fibromyalgia syndrome and chronotype: late chronotypes are more affected.

PubMed

Kantermann, Thomas; Theadom, Alice; Roenneberg, Till; Cropley, Mark

2012-04-01

Sleep has strong links to the symptomology of fibromyalgia syndrome (FMS), a diffuse musculoskeletal pain disorder. Information about the involvement of the circadian clock is, however, sparse. In this study, 1548 individuals with FMS completed an online survey containing questions on demographics, stimulant consumption, sleep quality, well-being and subjective pain, chronotype (assessed by the Munich ChronoType Questionnaire, MCTQ), and FMS impact. Chronotype (expressed as the mid-sleep-point on free days, corrected for sleep deficit on workdays, MSF(sc)) significantly correlated with stress-ratings, so-called "memory failures in everyday life," fatigue, FMS impact, and depression but not with anxiety. When chronotypes were categorized into 3 groups (early, intermediate, late), significant group differences were found for sum scores of perceived stress, memory failures in everyday life, fatigue, FMS impact, and depression but not anxiety, with late chronotypes being more affected than early chronotypes. Sleepiness ratings were highest in early chronotypes. Challenges of sleep quality and subjective pain were significantly increased in both early and late chronotypes. The results show that according to their reports, late chronotypes are more affected by fibromyalgia.

[Analysis of musculoskeletal disorders, work load and working postures among manufacturing workers].

PubMed

Yu, Shan-fa; Gu, Gui-zhen; Sun, Shi-yi; Wang, Hai-sheng; Cui, Shou-ming; Yang, Xiao-fa; Yang, Shu-le; He, Li-hua; Wang, Sheng

2011-03-01

To analyze the distribution of the musculoskeletal disorders, work load and working postures in different factories, gender, education levels, age and working years among manufacturing workers. In a cross-sectional study of 5134 manufacturing workers in 12 factories, the morbidities for musculoskeletal disorders in one year period were measured with questionnaires. The morbidities for musculoskeletal disorders in body sites: waist, neck, shoulder, wrist, ankle/feet, knee, hip/buttocks and elbows were 59.7%, 47.9%, 38.1%, 33.7%, 26.9%, 25.4%, 15.2%, and 14.9%, respectively in one year period. There were significant differences of morbidities for musculoskeletal symptoms in body sites of workers among different factories (P < 0.05 or P < 0.01). The morbidities of musculoskeletal symptoms in elbows, waist, wrists and ankle/feet of the workers in refractory material and chemical fiber factories were higher than those in other factories, the morbidities for musculoskeletal symptoms of workers in garments and diamond factories were lower than those in other factories. The morbidities for musculoskeletal symptoms in neck, shoulders and wrists of female workers were significantly higher than those of male workers (P < 0.01). There were significant differences of the morbidities for musculoskeletal symptoms in body sites among workers with different educational levels (P < 0.05 or P < 0.01). There were significant differences of the morbidities for musculoskeletal symptoms in neck, shoulders, wrists, hip/buttocks and knee among groups with different age or different working years (P < 0.01), and the morbidities for musculoskeletal symptoms increased with age and working years. The proportions of unhealthy working postures and high working load among workers in refractory material and chemical fiber factories were higher; but those in garments and diamond factories were lower. The morbidities for musculoskeletal symptoms in waist, neck, shoulder and wrists of workers in manufacturing workers were higher; the gender, education level, age and working years could influenced the morbidities for musculoskeletal disorders.

Sickness absence due to musculoskeletal diagnoses and risk of diagnosis-specific disability pension: a nationwide Swedish prospective cohort study.

PubMed

Jansson, Catarina; Alexanderson, Kristina

2013-06-01

Musculoskeletal disorders constitute major public health problems. Few studies have, however, examined risk of disability pension among persons sickness absent due to musculoskeletal diagnoses. Thus, we constructed a prospective nationwide population-based cohort study based on Swedish registers, consisting of all 4,687,756 individuals living in Sweden December 31, 2004/2005, aged 20-64 years, who were not on disability or old-age pension. Those individuals who were sickness absent in 2005 due to musculoskeletal diagnoses were compared to those sickness absent due to non-musculoskeletal diagnoses and those with no sickness absence. Musculoskeletal diagnoses were categorized as follows: 1) artropathies/systemic connective tissue disorders, 2) dorsopathies, and 3) soft tissue disorders/osteopathies/chondropathies/other musculoskeletal disorders. All-cause and diagnosis-specific incident disability pension were followed from 2006 to 2009. Incidence rate ratios (IRRs) and 95% confidence intervals (CIs) were estimated by Cox proportional hazards regression. In models adjusted for socio-demographic factors and morbidity, sickness absence due to all categories of musculoskeletal diagnoses was associated with 12- to 18-fold increased risks of all-cause disability pension (adjusted model, category 2 diagnoses, IRR = 18.57, 95% CI = 18.18-18.97). Similar associations were observed among both women and men sickness absent due to all 3 musculoskeletal diagnostic categories. Moreover, increased risks of disability pension because of cancer, mental, circulatory and musculoskeletal diagnoses were observed among individuals sickness absent because of any musculoskeletal diagnostic category (disability pension due to musculoskeletal diagnoses, adjusted model, category 2 diagnoses, IRR = 50.66, 95% CI = 49.06-52.32). In conclusion, this nationwide cohort study reveals strongly increased risks of all-cause and diagnosis-specific disability pension among those sickness absent due to musculoskeletal diagnoses. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

Musculoskeletal Fitness and Risk of Mortality.

ERIC Educational Resources Information Center

Katzmarzyk, Peter T.; Craig, Cora L.

2002-01-01

Quantified the relationship between musculoskeletal fitness and all-cause mortality in Canada, using measures of musculoskeletal fitness (situps, pushups, grip strength, and sit- and-reach trunk flexibility) from adult male and female participants in the Canadian Fitness Survey. Results indicated that some components of musculoskeletal fitness,…

Structural equation model of interactions between risk factors and work-related musculoskeletal complaints among Iranian hospital nurses.

PubMed

Mehralizadeh, Semira; Dehdashti, Alireza; Motalebi Kashani, Masoud

2017-01-01

Statistics indicate a high risk of developing work-related musculoskeletal disorders among hospital nurses. The challenge is to understand the associations between musculoskeletal symptoms and various individual and occupational risk factors. This study examined the direct and indirect interactions of various risk factors with musculoskeletal complaints in hospital nurses. In a cross-sectional design, Iranian hospital nurses from Semnan University of Medical Sciences participated in a questionnaire survey reporting their perceived perceptions of various work-related risk factors and musculoskeletal symptoms. We tested our proposed structural equation model to evaluate the relations between latent and observed concepts and the relative importance and strength of exogenous variables in explaining endogenous musculoskeletal complaints. Measurement model fits the data relatively acceptable. Our findings showed direct effects of psychological, role-related and work posture stressors on musculoskeletal complaints. Fatigue mediated the adverse indirect relations of psychological, role-related, work posture and individual factors with musculoskeletal complaints. Structural equation modeling may provide methodological opportunities in occupational health research with a potential to explain the complexity of interactions among risk factors. Prevention of work-related musculoskeletal disorders among nurses must account for physical and psychosocial conditions.

Radiographic Measurements of the Affected and Unaffected Feet in Patients with Unilateral Hallux Limitus A Case-Control Pilot Study.

PubMed

Knox, Andrew F; Bryant, Alan R

2016-05-01

Controversy exists regarding the structural and functional causes of hallux limitus, including metatarsus primus elevatus, a long first metatarsal, first-ray hypermobility, the shape of the first metatarsal head, and the presence of hallux interphalangeus. Some articles have reported on the radiographic evaluation of these measurements in feet affected by hallux limitus, but no study has directly compared the affected and unaffected feet in patients with unilateral hallux limitus. This case-control pilot study aimed to establish whether any such differences exist. Dorsoplantar and lateral weightbearing radiographs of both feet in 30 patients with unilateral hallux limitus were assessed for grade of disease, lateral intermetatarsal angle, metatarsal protrusion distance, plantar gapping at the first metatarsocuneiform joint, metatarsal head shape, and hallux abductus interphalangeus angle. Data analysis was performed using a statistical software program. Mean radiographic measurements for affected and unaffected feet demonstrated that metatarsus primus elevatus, a short first metatarsal, first-ray hypermobility, a flat metatarsal head shape, and hallux interphalangeus were prevalent in both feet. There was no statistically significant difference between feet for any of the radiographic parameters measured (Mann-Whitney U tests, independent-samples t tests, and Pearson χ(2) tests: P > .05). No significant differences exist in the presence of the structural risk factors examined between affected and unaffected feet in patients with unilateral hallux limitus. The influence of other intrinsic factors, including footedness and family history, should be investigated further.

Autotransplantation of teeth in humans: a systematic review and meta-analysis.

PubMed

Almpani, Konstantinia; Papageorgiou, Spyridon N; Papadopoulos, Moschos A

2015-07-01

The aim of this investigation was to assess the currently available evidence concerning the complications and risk factors influencing the outcome of autotransplantation of teeth in humans. Electronic searches were conducted to identify randomized controlled and prospective clinical trials. Risk of bias within studies was assessed with the Downs and Black tool. Random-effects meta-analyses were conducted to pool the adverse event rates and relative risks with their 95% confidence intervals. Risk of bias across studies was assessed with the GRADE framework followed by sensitivity analyses. Thirty-eight studies were included in the analysis. Reported complications included the need for extraction, failure, hypermobility, pulp necrosis, pulp obliteration, and root resorption. Pooled complication event rates varied considerably, with small studies (<100 teeth) reporting greater complication rates. The analysis of risk factors was associated with both the primary outcome (extraction need) and secondary outcomes (failure, hypermobility, pulp necrosis, pulp obliteration, root resorption). The stage of root development seems to influence both the future survival, as well as the success of the transplanted teeth. Teeth with open apex were less likely to be extracted in comparison to teeth with closed apex (3 studies; 413 teeth; relative risk 0.3; 95% confidence interval 0.2-0.6). Due to the small number of the contributing studies, their methodological limitations, and the heterogeneous results reported, no firm conclusions can be drawn. Root development of the donor teeth has been established as one the most important factor related to the success of tooth autotransplantation.

77 FR 39714 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-05

... Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the... Arthritis and Musculoskeletal and Skin Diseases, Special Emphasis Panel, Clinical Trials Applications. Date... of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, 6701 Democracy Blvd...

78 FR 66021 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2013-11-04

... Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the... Arthritis and Musculoskeletal and Skin Diseases Special Emphasis Panel; Mentored Career Development... Arthritis and Musculoskeletal and Skin Diseases, NIH, 6701 Democracy Boulevard, Suite 800, Bethesda, MD...