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.

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…

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®

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.

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.

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.

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).

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.

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

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.

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.

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

PubMed

Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

2017-03-01

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

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.

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.

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…

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.

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.

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

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

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

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.

The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.

PubMed

Scheper, Mark C; Nicholson, Lesley L; Adams, Roger D; Tofts, Louise; Pacey, Verity

2017-12-01

The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups, and differences were assessed by multivariate analysis of covariance. Mixed linear regression models were used to determine the subsequent trajectories. Finally, an exploratory factor analysis was used to uncover the underlying constructs of functional impairment. Three clusters of children were identified in terms of functional impairment: mild, moderately and severely affected. Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P ⩽ 0.05) over 3 years. Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multi-systemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P ⩽ 0.046). Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please

Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases.

PubMed

Patzkowski, Michael S

2016-03-01

Ehlers-Danlos syndrome is an inherited disorder of collagen production that results in multiorgan dysfunction. Patients with hypermobility type display skin hyperextensibility and joint laxity, which can result in chronic joint instability, dislocation, peripheral neuropathy, and severe musculoskeletal pain. A bleeding diathesis can be found in all subtypes of varying severity despite a normal coagulation profile. There have also been reports of resistance to local anesthetics in these patients. Several sources advise against the use of regional anesthesia in these patients citing the 2 previous features. There have been reports of successful neuraxial anesthesia, but few concerning peripheral nerve blocks, none of which describe nerves of the lower extremity. This report describes 2 cases of successful peripheral regional anesthesia in the lower extremity. In case 1, a 16-year-old adolescent girl with hypermobility type presented for osteochondral grafting of tibiotalar joint lesions. She underwent a popliteal sciatic (with continuous catheter) and femoral nerve block under ultrasound guidance. She proceeded to surgery and tolerated the procedure under regional block and intravenous sedation. She did not require any analgesics for the following 15 hours. In case 2, an 18-year-old woman with hypermobility type presented for medial patellofemoral ligament reconstruction for chronic patella instability. She underwent a saphenous nerve block above the knee with analgesia in the distribution of the saphenous nerve lasting for approximately 18 hours. There were no complications in either case. Prohibitions against peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type, appear unwarranted. Published by Elsevier Inc.

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.

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.

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.

Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder

PubMed Central

Gazit, Yael; Jacob, Giris; Grahame, Rodney

2016-01-01

Ehlers–Danlos syndrome (EDS)—hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Soft tissue overuse injury may lead to tendonitis and bursitis without joint inflammation in most cases. Ehlers–Danlos syndrome-HT carries a high potential for disability due to recurrent dislocations and subluxations and chronic pain. Throughout the years, extra-articular manifestations have been described, including cardiovascular, autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately, EDS-HT is under-recognized and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known manifestations of the extra-articular systems. PMID:27824552

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.

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.

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.

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.

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.

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…

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.

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.

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.

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.

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.

[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.

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.

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.

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.

[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.

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

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.

Hypermobile joints

MedlinePlus

... Hypermobility syndrome Images Hypermobile joints References Ball JW, Dains JE, Flynn JA, Solomon BS, Stewart RW. Musculoskeletal system. In: Ball JW, Dains JE, Flynn JA, Solomon BS, Stewart RW, eds. ...

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.

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.

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.

Generalised joint hypermobility and shoulder joint hypermobility, - risk of upper body musculoskeletal symptoms and reduced quality of life in the general population.

PubMed

Juul-Kristensen, Birgit; Østengaard, Lasse; Hansen, Sebrina; Boyle, Eleanor; Junge, Tina; Hestbaek, Lise

2017-05-30

Generalised Joint Hypermobility (GJH) is a hereditary condition with an ability to exceed the joints beyond the normal range. The prevalence of GJH in the adult population and its impact on upper body musculoskeletal health and quality of life has mostly been studied in selected populations. The aims of this study were therefore, firstly to study the prevalence of GJH and GJH including shoulder hypermobility (GJHS), in the general Danish adult population; secondly to test the associations between GJH or GJHS and upper body musculoskeletal symptoms and health-related quality of life (HRQoL). The study was cross-sectional where 2072 participants, aged 25-65, randomly extracted from the Danish Civil Registration System), were invited to answer a questionnaire battery (Five-Part Questionnaire for classification of GJH, Standardised Nordic Questionnaire for musculoskeletal symptoms, EuroQoL-5D for HRQoL). Totally 1006 (49%) participants responded. The prevalence of GJH and GJHS were 30% (n = 300) and 5% (n = 51), respectively. Compared with Non GJH (NGJH), participants with GJH and GJHS had Odds Ratio (OR) of 1.5-3.5 for upper body musculoskeletal symptoms within the last 12 months (mostly shoulders and hands/wrists). GJH and GJHS also had OR 1.6-4.4 for being prevented from usual activities, mostly due to shoulder and neck symptoms. Furthermore, GJH and GJHS had OR 2.2-3.1 for upper body musculoskeletal symptoms lasting for more than 90 days (neck, shoulders, hand/wrists), and 1.5-3.5 for reduced HRQoL (all dimensions, but anxiety/depression) compared with NGJH. Generally, most OR for GJHS were about twice as high as for those having GJH alone. GJH and GJHS are frequently self-reported musculoskeletal conditions in the Danish adult population. Compared with NGJH, GJH and especially GJHS, present with higher OR for upper body musculoskeletal symptoms, more severe symptoms and decreased HRQoL.

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.

Ehlers-Danlos Syndrome in Orthopaedics

PubMed Central

Shirley, Eric D.; DeMaio, Marlene; Bodurtha, Joanne

2012-01-01

Ehlers-Danlos syndrome is a heterogeneous connective tissue condition characterized by varying degrees of skin hyperextensibility, joint hypermobility, and vascular fragility. Joint dislocations, musculoskeletal pain, atrophic scars, easy bleeding, vessel/viscera rupture, severe scoliosis, and obstetric complications may occur. These manifestations are secondary to abnormal collagen, with specific molecular defects in types I, III, and V collagen; they may also be related to tenascin-X, which has been identified in some patients. Ehlers-Danlos syndrome has been classified into 6 types, with variable degrees of joint instability, skin hyperextensibility, wound healing difficulty, and vascular fragility. Diagnosis begins with recognition of the signs and symptoms of global hypermobility and referring appropriate patients for genetic consultation. It is important to accurately identify patients with Ehlers-Danlos syndrome to initiate appropriate musculoskeletal treatment, optimize anesthetic and postoperative management, perform appropriate vascular screening, and help families address their concerns with other families and advocacy groups. PMID:23016112

Joint hypermobility, growing pain and obesity are mutually exclusive as causes of musculoskeletal pain in schoolchildren.

PubMed

Sperotto, Francesca; Balzarin, Marta; Parolin, Mattia; Monteforte, Nadia; Vittadello, Fabio; Zulian, Francesco

2014-01-01

Chronic musculoskeletal pain (MSP) is common in children and can be due to several non-inflammatory conditions such as the benign joint hypermobility syndrome (BJHS), and growing pains (GP). We evaluated frequency, risk factors and causes of MSP in a large cohort of healthy schoolchildren. We conducted a cross sectional study in a cohort of healthy schoolchildren, aged 8-13 years, by collecting information and performing a physical examination. The anamnesis was focused on family history for MSP, presence and sites of MSP interfering with the regular daily activities during the previous 6 months and presence of GP. Physical examination included body mass index, pubertal stage and musculoskeletal examination focused on the presence of hypermobility according to the Beighton criteria. Two hundred and eighty-nine schoolchildren, 143 females and 146 males, participated in the study. Chronic MSP occurred in 30.4% of subjects, BJHS occurred in 13.2%. GJH was more frequent in symptomatic subjects than in asymptomatic ones (p=0.054). Symptomatic subjects were more frequently pre-pubertal than pubertal (p=0.006). In general, GP, BJHS and obesity (OB) were mutually exclusive as causes of MSP as, among 88 symptomatic subjects, 52.3% had GP, 40.9% presented BJHS, 4.5% were OB and only two (2.3%) presented both BJHS and OB. After puberty, GP persisted in 66.7%, BJHS in 26.7% and in association with OB in 6.7%. Approximately one third of schoolchildren suffer from MSP. BJHS, GP and OB are mutually exclusive as causes of MSP in schoolchildren. Pubertal stage plays an important role in the physiopathology of this condition.

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.

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.

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.

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

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.

Joint hypermobility in children with idiopathic scoliosis: SOSORT award 2011 winner

PubMed Central

2011-01-01

Background Generalized joint hypermobility (JHM) refers to increased joint mobility with simultaneous absence of any other systemic disease. JHM involves proprioception impairment, increased frequency of pain within joints and tendency to injure soft tissues while performing physical activities. Children with idiopathic scoliosis (IS) often undergo intensive physiotherapy requiring good physical capacities. Further, some physiotherapy methods apply techniques that increase joint mobility and thus may be contraindicated. The aim of this paper was to assess JHM prevalence in children with idiopathic scoliosis and to analyze the relationship between JHM prevalence and the clinical and radiological parameters of scoliosis. The methods of assessment of generalized joint hypermobility were also described. Materials and methods This case-control study included 70 subjects with IS, aged 9-18 years (mean 13.2 ± 2.2), Cobb angle range 10°-53° (mean 24.3 ± 11.7), 34 presenting single curve thoracic scoliosis and 36 double curve thoracic and lumbar scoliosis. The control group included 58 children and adolescents aged 9-18 years (mean 12.6 ± 2.1) selected at random. The presence of JHM was determined using Beighton scale complemented with the questionnaire by Hakim and Grahame. The relationship between JHM and the following variables was evaluated: curve severity, axial rotation of the apical vertebra, number of curvatures (single versus double), number of vertebrae within the curvature (long versus short curves), treatment type (physiotherapy versus bracing) and age. Statistical analysis was performed with Statistica 8.1 (StatSoft, USA). The Kolmogorov-Smirnov test, U Mann-Whitney test, Chi2 test, Pearson and Spermann correlation rank were conducted. The value p = 0.05 was adopted as the level of significance. Results JHM was diagnosed in more than half of the subjects with idiopathic scoliosis (51.4%), whilst in the control group it was diagnosed in only 19% of cases (p

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.

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.

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.

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.

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.

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

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…

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 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.

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

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

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.

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

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

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.

Generalized Joint Hypermobility Is Predictive of Hip Capsular Thickness.

PubMed

Devitt, Brian M; Smith, Bjorn N; Stapf, Robert; Tacey, Mark; O'Donnell, John M

2017-04-01

The pathomechanics of hip microinstability are not clearly defined but are thought to involve anatomical abnormalities, repetitive forces across the hip, and ligamentous laxity. The purpose of this study was to explore the relationship between generalized joint hypermobility (GJH) and hip capsular thickness. The hypothesis was that GJH would be predictive of a thin hip capsule. Cross-sectional study; Level of evidence, 3. A prospective study was performed on 100 consecutive patients undergoing primary hip arthroscopy for the treatment of hip pain. A Beighton test score (BTS) was obtained prior to each procedure. The maximum score was 9, and a score of ≥4 was defined as hypermobile. Capsular thickness at the level of the anterior portal, corresponding to the location of the iliofemoral ligament, was measured arthroscopically using a calibrated probe. The presence of ligamentum teres (LT) pathology was also recorded. Fifty-five women and 45 men were included in the study. The mean age was 32 years (range, 18-45 years). The median hip capsule thickness was statistically greater in men than women (12.5 and 7.5 mm, respectively). The median BTS for men was 1 compared with 4 for women ( P < .001). A statistically significant association was found between BTS and capsular thickness; a BTS of <4 is strongly predictive of having a capsular thickness of ≥10 mm, while a BTS ≥4 correlates with a capsular thickness of <10 mm. There was a statistically greater incidence of LT tears in patients with a capsular thickness of ≤7.5 mm and a BTS of ≥4 ( P < .001). Measurement of the GJH is highly predictive of hip capsular thickness. A BTS of <4 correlates significantly with a capsular thickness of ≥10 mm, while a BTS ≥4 correlates significantly with a thickness of <10 mm.

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.

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.

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.

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

Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.

PubMed

Tewari, Saipriya; Madabushi, Rajashree; Agarwal, Anil; Gautam, Sujeet K; Khuba, Sandeep

2017-01-01

Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week. After 1 week the patient reported 60-80% pain relief. This case highlights that we must keep a high index of suspicion for the more treatable causes of pain like myofascial pain syndrome in patients suffering from EDS, and should address it promptly and appropriately in order to maximise patient comfort. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

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

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.

Generalized Joint Hypermobility Is Predictive of Hip Capsular Thickness

PubMed Central

Devitt, Brian M.; Smith, Bjorn N.; Stapf, Robert; Tacey, Mark; O’Donnell, John M.

2017-01-01

Background: The pathomechanics of hip microinstability are not clearly defined but are thought to involve anatomical abnormalities, repetitive forces across the hip, and ligamentous laxity. Purpose/Hypothesis: The purpose of this study was to explore the relationship between generalized joint hypermobility (GJH) and hip capsular thickness. The hypothesis was that GJH would be predictive of a thin hip capsule. Study Design: Cross-sectional study; Level of evidence, 3. Methods: A prospective study was performed on 100 consecutive patients undergoing primary hip arthroscopy for the treatment of hip pain. A Beighton test score (BTS) was obtained prior to each procedure. The maximum score was 9, and a score of ≥4 was defined as hypermobile. Capsular thickness at the level of the anterior portal, corresponding to the location of the iliofemoral ligament, was measured arthroscopically using a calibrated probe. The presence of ligamentum teres (LT) pathology was also recorded. Results: Fifty-five women and 45 men were included in the study. The mean age was 32 years (range, 18-45 years). The median hip capsule thickness was statistically greater in men than women (12.5 and 7.5 mm, respectively). The median BTS for men was 1 compared with 4 for women (P < .001). A statistically significant association was found between BTS and capsular thickness; a BTS of <4 is strongly predictive of having a capsular thickness of ≥10 mm, while a BTS ≥4 correlates with a capsular thickness of <10 mm. There was a statistically greater incidence of LT tears in patients with a capsular thickness of ≤7.5 mm and a BTS of ≥4 (P < .001). Conclusion: Measurement of the GJH is highly predictive of hip capsular thickness. A BTS of <4 correlates significantly with a capsular thickness of ≥10 mm, while a BTS ≥4 correlates significantly with a thickness of <10 mm. PMID:28451620

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.

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.

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

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

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

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

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.

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

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

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

No Effect of Generalized Joint Hypermobility on Injury Risk in Elite Female Soccer Players: A Prospective Cohort Study.

PubMed

Blokland, Donna; Thijs, Karin M; Backx, Frank J G; Goedhart, Edwin A; Huisstede, Bionka M A

2017-02-01

Although it has been suggested that generalized joint hypermobility (GJH) is a risk factor for injury in soccer players, it remains unclear whether this applies to elite female soccer players. To investigate whether GJH is a risk factor for injury in elite female soccer players. Cohort study; Level of evidence, 2. Elite female soccer players in the Netherlands were screened at the start of the 2014-2015 competitive season. GJH was assessed using the Beighton score. Soccer injuries and soccer exposure were registered throughout the entire season. Poisson regression was performed to calculate incidence risk ratios (IRRs) using different cutoff points of the Beighton score (≥3, ≥4, and ≥5) to indicate GJH. Of the 114 players included in the study, 20 were classified as hypermobile (Beighton score ≥4). The mean (±SD) injury incidence per player was 8.40 ± 9.17 injuries/1000 hours of soccer, with no significant difference between hypermobile and nonhypermobile players. GJH was not a risk factor for injuries when using Beighton score cutoff points of ≥3 (IRR = 1.06 [95% CI, 0.74-1.50]; P = .762), ≥4 (IRR = 1.10 [95% CI, 0.72-1.68]; P = .662), or ≥5 (IRR = 1.15 [95% CI, 0.68-1.95]; P = .602). Similarly, GJH was not a significant risk factor for thigh, knee, or ankle injuries evaluated separately. This study indicates that GJH is not a risk factor for injuries in elite female soccer players, irrespective of Beighton score cutoff point. Hypermobile players at this elite level might have improved their active stability and/or used braces to compensate for joint laxity.

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

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.

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.

Joint attention in Down syndrome: A meta-analysis.

PubMed

Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

2018-07-01

Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

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

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

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.

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.

Protection of the temporomandibular joint during syndromic neonatal mandibular distraction using condylar unloading.

PubMed

Fan, Kenneth; Andrews, Brian T; Liao, Eileen; Allam, Karam; Raposo Amaral, Cesar Augusto; Bradley, James P

2012-05-01

Neonatal distraction in severe micrognathia patients may alleviate the need for tracheostomy. The authors' objectives in evaluating syndromic neonatal distraction cases were to: (1) document preoperative temporomandibular joint pathology, (2) compare the incidence of postoperative temporomandibular joint ankylosis, and (3) determine whether "unloading" the condyle tended to prevent temporomandibular joint pathology. Syndromic versus nonsyndromic micrognathic (and normal) patient temporomandibular joint abnormalities were compared preoperatively based on computed tomography scans and incisor opening (n = 110). Patient temporomandibular joint outcomes after neonatal mandibular distraction were compared with regard to ankylosis (n = 59). Condylar-loaded versus condylar-unloaded (with class II intermaxillary elastics) temporomandibular joint outcomes were compared based on imaging and the need for joint reconstruction (n = 25). Preoperative abnormalities of neonatal temporomandibular joint pathology on computed tomography scans were not significant: syndromic, 15 percent; nonsyndromic, 5.9 percent; and normal joints, 4.2 percent. Syndromic patients had a significantly greater interincisor distance decrease postoperatively (48 percent; p < 0.05) and at 1-year follow-up (28 percent; p < 0.05) compared with nonsyndromic patients. Also, computed tomography scans revealed that 28 percent of syndromic patients developed temporomandibular joint abnormalities, whereas nonsyndromic patients were unchanged. Condylar-loaded patients had worse clinical outcomes compared with condylar-unloaded patients (80 percent versus 7 percent) and required temporomandibular joint reconstruction for bony ankylosis (40 percent versus 0 percent) after distraction. Neonatal syndromic, micrognathia patients have increased temporomandibular joint pathology preoperatively and bony ankylosis after distraction but are protected with partial unloading of the condyle during distraction. Risk, II

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.

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.

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

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.

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.

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.

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.

Subtalar joint arthroscopy for sinus tarsi syndrome: a review of 29 cases.

PubMed

Oloff, L M; Schulhofer, S D; Bocko, A P

2001-01-01

Twenty-nine consecutive patients who underwent diagnostic or therapeutic subtalar joint arthroscopy for sinus tarsi syndrome were retrospectively reviewed. The mean length of follow-up was 18 months. There was a history of trauma in 86% of the patients, with an inversion sprain being the most common predisposing injury (63%). All patients had a primary preoperative diagnosis of sinus tarsi syndrome. Magnetic resonance imaging was useful in identifying subtalar joint chronic synovitis and/or fibrosis in all 26 patients who were imaged. Subtalar joint synovectomy was the most common procedure performed. Twelve patients had 15 additional operative procedures. One patient required an arthrotomy secondary to arthrofibrosis. There were no postoperative complications. The mean return to full activity was 4 months. The mean postoperative AOFAS Ankle-Hindfoot Scale score was 85 points. Subtalar joint arthroscopy has proven to be a relatively safe and effective diagnostic and therapeutic technique in the management of sinus tarsi syndrome.

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.

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 HRQo

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.

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 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

[Arthroscopic therapy of ankle joint impingement syndrome after operation of ankle joint fracture dislocation].

PubMed

Feng, Zhibin; Mi, Kun; Wei, Renzhi; Liu, Wu; Wang, Bin

2011-07-01

To study the operative procedure and the effectiveness of arthroscopic therapy for ankle joint impingement syndrome after operation of ankle joint fracture dislocation. Between March 2008 and April 2010, 38 patients with ankle joint impingement syndrome after operation of ankle joint fracture dislocation were treated. Among them, there were 28 males and 10 females with an average age of 28 years (range, 18 to 42 years). The time from internal fixation to admission was 12-16 months (mean, 13.8 months). There were pressing pain in anterolateral and anterior ankle. The dorsal extension ranged from -20 to -5 degrees (mean, -10.6 degrees), and the palmar flexion was 30-40 degrees (mean, 35.5 degrees). The total score was 48.32 +/- 9.24 and the pain score was 7.26 +/- 1.22 before operation according to American Orthopaedic Foot and Ankle Society (AOFAS) ankle and hindfoot score system. The X-ray films showed osteophyte formation in anterior tibia and talus; MRI showed cartilage injury in 22 cases. Arthroscopic intervention included removing osteophytes, debriding fabric scars and synovial membrane tissues, and removing osteochondral fragments. Arthroscopic microfracture technique was used in 22 patients with cartilage injury. All incisions healed primarily. Thirty-eight cases were followed up 10-26 months (mean, 16 months). At last follow-up, 26 patients had normal range of motion (ROM); the dorsal extension was 15-25 degrees (mean, 19.6 degrees) and the palmar flexion was 35-45 degrees (mean, 40.7 degrees). Eight patients had mild limited ROM; the dorsal extension was 5-15 degrees (mean, 7.2 degrees) and the palmar flexion was 35-45 degrees (mean, 39.5 degrees). Four patients had mild limited ROM and pain in posterior portion of the ankle after a long walking (3-4 hours); the dorsal extension was 0-5 degrees (mean, 2.6 degrees) and the palmar flexion was 35-40 degrees (mean, 37.5 degrees). The total score was 89.45 +/- 9.55 and the pain score was 1.42 +/- 1.26 after

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.

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.

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.

A Rare Case of Morel-Lavallee Syndrome Complicating an Anterior Dislocation of Hip Joint.

PubMed

Nekkanti, Supreeth; Vijay, C; Theja, Sujana; Shankar, R Ravi; Verma, Anubhav

2016-01-01

Hip dislocations are serious injuries as hip joint is an extremely stable joint. It requires a significant amount of force to produce such an injury. Anterior dislocations are uncommon. Potential complications of anterior hip dislocations are a neurovascular injury to femoral vessels or acetabular fractures. We report a rare late complication of Morel-Lavallee syndrome occurring 3 weeks after an anterior dislocation of the hip in a 43-year-old male. The patient presented to us with history. Morel-Lavallee syndrome is a rare complication. However if diagnosed early can be successfully treated with minimal burden to the patient. The authors recommend surgeons to have a high index of suspicion for this syndrome and a stringent follow-up examination of the patient.

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.

[Burning mouth syndrome - a joint biopsychosocial approach].

PubMed

Arpone, Francesca; Combremont, Florian; Weber, Kerstin; Scolozzi, Paolo

2016-02-10

Burning mouth syndrome (BMS) is a medical condition that is often refractory to conventional diagnostic and therapeutic methods. Patients suffering from BMS can benefit from a biopsychosocial approach in a joint, medical-psychological consultation model. Such a consultation exists at Geneva University Hospitals, involving the collaboration of the maxillo-facial and oral surgery division and the division of liaison psychiatry and crisis intervention, in order to take into account the multiple factors involved in BMS onset and persistence. This article will describe BMS clinical presentation, and present an integrate approach to treat these patients.

Functional disorders of the temporomandibular joints: Internal derangement of the temporomandibular joint.

PubMed

Chang, Chih-Ling; Wang, Ding-Han; Yang, Mu-Chen; Hsu, Wun-Eng; Hsu, Ming-Lun

2018-04-01

Temporomandibular joint (TMJ) is one of the most complex joints of the human body. Due to its unique movement, in terms of combination of rotation and translator movement, disc of the joint plays an important role to maintain its normal function. In order to sustain the normal function of the TMJ, disc must be kept in proper position as well as maintain normal shape in all circumstances. Once the disc is not any more in its normal position during function of the joint, disturbance of the joint can be occurred which will lead to subsequent distortion of the disc. Shape of the disc can be influenced by many factors i.e.: abnormal function or composition of the disc itself. Etiology of the internal derangement of the disc remains controversial. Multifactorial theory has been postulated in most of previous manuscripts. Disc is composed of mainly extracellular matrix. Abnormal proportion of collagen type I & III may also leads to joint hypermobility which may be also a predisposing factor of this disorder. Thus it can be recognized as local manifestation of a systemic disorder. Different treatment modalities with from conservative treatment to surgical intervention distinct success rate have been reported. Recently treatment with extracellular matrix injection becomes more and more popular to strengthen the joint itself. Since multifactorial in character, the best solution of the treatment modalities should be aimed to resolve possible etiology from different aspects. Team work may be indication to reach satisfied results. Copyright © 2018. Published by Elsevier Taiwan.

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.

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.

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.

Management of pain secondary to temporomandibular joint syndrome with peripheral nerve stimulation.

PubMed

Rodriguez-Lopez, Manuel J; Fernandez-Baena, Mariano; Aldaya-Valverde, Carlos

2015-01-01

Temporomandibular joint syndrome, or Costen syndrome, is a clinically diagnosed disorder whose most common symptoms include joint pain and clicking, difficulty opening the mouth, and temporomandibular joint discomfort. The temporomandibular joint (TMJ) is supplied by the auriculotemporal nerve, a collateral branch of the mandibular nerve (the V3 branch of the trigeminal nerve). The aim of this study is to assess the effectiveness and safety of permanent peripheral nerve stimulation to relieve TMJ pain. This case series is a prospective study. Pain Unit of a regional universitary hospital. The study included 6 female patients with temporomandibular pain lasting from 2 to 8 years that did not respond to intraarticular local anesthetic and corticoid injections. After a positive diagnostic block test, the patients were implanted with quadripolar or octapolar leads in the affected preauricular region for a 2-week stimulation test phase, after which the leads were connected to a permanent implanted pulse generator. Results of the visual analog scale, SF-12 Health Survey, Brief Pain Inventory, and drug intake were recorded at baseline and at 4, 12, and 24 weeks after the permanent implant. Five out of 6 patients experienced pain relief exceeding 80% (average 72%) and received a permanent implant. The SF-12 Health Survey results were very positive for all specific questions, especially items concerning the physical component. Patients reported returning to normal physical activity and rest at night. Four patients discontinued their analgesic medication and 1 patient reduced their gabapentin dose by 50%. Sample size; impossibility of placebo control. Patients affected with TMJ syndrome who do not respond to conservative treatments may find a solution in peripheral nerve stimulation, a simple technique with a relatively low level of complications.

Joint Attention Behaviours and Vocabulary Development in Children with Down Syndrome

ERIC Educational Resources Information Center

Zampini, L.; Salvi, A.; D'Odorico, L.

2015-01-01

Background: Because of their difficulties in language development, various studies have focussed on the precursors of linguistic skills in children with Down syndrome. However, data on the predictive role of joint attention on language development in this population are inconsistent. The present study aimed to analyse attention behaviours in a…

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.

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.

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.

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

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.

Clinical application of arthroscopy in the diagnosis and treatment of anterior impingement syndrome of the ankle joint in physical workers.

PubMed

Wu, Wen-Te; Chen, Zhi-Wei; Zhou, Yu-Cheng

2012-10-01

To evaluate the clinical application of arthroscopy in the diagnosis and treatment of anterior impingement syndrome of the ankle joint in physical workers. A retrospective study was carried out at the Department of Orthopedics, the First Hospital affiliated to Nanhua University, Hengyang, China from March 2005 to December 2011. Seventeen cases of anterior impingement syndrome of the ankle joint were confirmed, and treated through arthroscopy. All these patients conformed to regular follow-up postoperatively, and clinical details, as well as postoperative prognosis were retrieved and analyzed retrospectively. The efficacy was evaluated by the American Orthopedic Foot and Ankle Society (AOFAS) hindfoot-ankle scoring system, and pain relief was assessed by visual analogue scoring (VAS). Anterolateral impingement syndrome was found in 11 patients, anteromedial impingement syndrome in 4, while anterior impingement syndrome in 2 via arthroscopic examination. The VAS was reduced from 5.2-1.1, and the AOFAS score was elevated from 76.4-95.8 postoperatively; both of which demonstrated statistical differences when compared to preoperative scores. It was also found that concomitant cartilage damage was an indicator of poor prognosis in arthroscopic treatment of impingement syndrome of the ankle joint. Satisfactory results could be achieved for physical workers with anterior impingement syndrome treated by arthroscopy. As the cartilage damage is an indicator of poor prognosis, an early operation is advocated when the prognosis of anterior impingement syndrome is confirmed.

Incidence of tempero-mandibular joint pain dysfunction syndrome in rural population.

PubMed

Rao, M B; Rao, C B

1981-08-01

The incidence and clinical course of the tempero-mandibular joint dysfunction syndrome was studied among 1187 subjects over the age of 16, who attended the rural dental consultations held at various places in the State of Karnataka, India. The study revealed an incidence of 20.3%. Contracy to earlier reports, the incidence was higher in males than in females and more married females were affected than unmarried. Clicking appeared to be the predominant symptom in all age groups. The incidence of pain increased with age. Of all patients 43.75% were not aware of a clicking joint; 53.7% persons with clicking and 14% with pain were not disturbed by their symptoms. The findings of the study failed to establish any relationship between unilateral missing teeth and the occurrence of the pain dysfunction syndrome (PDS). The chewing habits (betel leaf, tobacco, betel nut) which are prevalent in India appeared to have no effect on the incidence of PDS. It is suggested that more epidemiological studies should be carried out in different parts of the world with varying social, political and economic systems to enable better understanding of the global incidence of PDS.

Joint Engagement and Early Language in Young Children with Fragile X Syndrome

ERIC Educational Resources Information Center

Hahn, Laura J.; Brady, Nancy C.; Fleming, Kandace; Warren, Steven F.

2016-01-01

Purpose: In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method: Participants were 28 children with FXS (24 boys, four girls) and their…

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.

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.

Low-level laser therapy of myofascial pain syndromes of patients with osteoarthritis of knee and hip joints

NASA Astrophysics Data System (ADS)

Gasparyan, Levon V.

2001-04-01

The purpose of the given research is the comparison of efficiency of conventional treatment of myofascial pain syndromes of patients with osteoarthritis (OA) of hip and knee joints and therapy with additional application of low level laser therapy (LLLT) under dynamic control of clinical picture, rheovasographic, electromyographic examinations, and parameters of peroxide lipid oxidation. The investigation was made on 143 patients with OA of hip and knee joints. Patients were randomized in 2 groups: basic group included 91 patients, receiving conventional therapy with a course of LLLT, control group included 52 patients, receiving conventional treatment only. Transcutaneous ((lambda) equals 890 nm, output peak power 5 W, frequency 80 - 3000 Hz) and intravenous ((lambda) equals 633 nm, output 2 mW in the vein) laser irradiation were used for LLLT. Studied showed, that clinical efficiency of LLLT in the complex with conventional treatment of myofascial pain syndromes at the patients with OA is connected with attenuation of pain syndrome, normalization of parameters of myofascial syndrome, normalization of the vascular tension and parameters of rheographic curves, as well as with activation of antioxidant protection system.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

PubMed

Hermanns, Pia; Unger, Sheila; Rossi, Antonio; Perez-Aytes, Antonio; Cortina, Hector; Bonafé, Luisa; Boccone, Loredana; Setzu, Valeria; Dutoit, Michel; Sangiorgi, Luca; Pecora, Fabio; Reicherter, Kerstin; Nishimura, Gen; Spranger, Jürgen; Zabel, Bernhard; Superti-Furga, Andrea

2008-06-01

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review.

PubMed

Wu, Cheng Chun; Sakahara, Daisuke; Imai, Keisuke

2017-10-01

Nager syndrome, also known as Nager acrofacial dysostosis, was first described by Nager and de Reynier in 1948. The patients commonly present with micrognathia, and a preventive tracheostomy is necessary when there are symptoms of upper airway obstruction. Mandibular distraction osteogenesis is considered as an effective procedure, which not only improves micrognathia but also minimizes the chances of tracheostomy. However, mandibular distraction osteogenesis has some complications such as relapse, teeth injury, infection, and injury of the temporomandibular joints (TMJs). In this study, the author reported two patients with Nager syndrome who suffered from ankylosis of TMJs after mandibular distraction osteogenesis. In addition, a comprehensive literature review of post-distraction ankylosis of TMJs in patients with Nager syndrome was performed. Few studies demonstrated the condition of TMJs after mandibular distraction osteogenesis, and three studies were identified from the review. One study reported ankylosis of bilateral coronoid processes, in which coronoidectomies were necessary. Another study reported the use of prostheses to replace the ankylosed joints in a patient who had undergone many surgeries of the joints, such as gap arthroplasties, reconstructions with costochondral grafts, etc. One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis. It seems that multiple factors are related to the ankylosis of TMJs after mandibular distraction osteogenesis in patients with Nager syndrome. Prevention of post-distraction ankylosis of the joints is important because the treatment is difficult and not always effective. We should conduct more studies about protection of the joints during mandibular distraction in the future. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

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.

A New Technique for the Treatment of Lumbar Facet Joint Syndrome Using Intra-articular Injection with Autologous Platelet Rich Plasma.

PubMed

Wu, Jiuping; Du, Zhenwu; Lv, Yang; Zhang, Jun; Xiong, Wei; Wang, Ruiqiang; Liu, Rui; Zhang, Guizhen; Liu, Qinyi

2016-01-01

Lumbar facet joint syndrome is currently suggested to be a main source of axial low back pain, and a large portion of axial low back pain is caused by disorders in lumbar facet joints. Intra-articular injection is one of the most common treatment methods in the early clinical application. Therefore, we attempt to seek a new injectable material, autologous platelet rich plasma (PRP), to treat lumbar facet syndrome, as well as to assess its therapeutic effectiveness and safety. A prospective clinic evaluation. The outpatient clinic of a single academic medical center. Total 19 patients with lumbar facet joint syndrome (8 men, 11 women; mean ages: 52.53 ± 6.79 years, range: 38 - 62 years) were enrolled to receive lumbar facet joint injection with autologous PRP under x-ray fluoroscopic control. Patients were followed up immediately, at one week, one month, 2 months, and 3 months following treatment, and the elements of this analysis included low back pain visual analogue scale (VAS) at rest and during flexion, Roland-Morris Disability Questionnaire (RMQ), Oswestry Disability Index (ODI), and modified MacNab criteria for the pain relief. All the 19 patients completed the intra-articular injections with autologous PRP successfully. At one week after treatment, low back pain reduced significantly compared with prior to treatment both at rest and during flexion. The outcomes were assessed as "good" or "excellent" for 9 patients (47.37%) immediately after treatment, 14 patients (73.68%) at one week, 15 patients (78.95%) at one month, 15 patients (78.95%) at 2 months, and 15 patients (78.95%) at 3 months. Statistically significant differences were observed based on RMQ and a more than 10% improvement in lumbar functional capacity was observed based on ODI between pre-treatment and post-treatment. In addition, there were no severe relevant complications during the whole process of injection and follow-up period. A control group and the curative effect observations with

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.

[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

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.

Evaluation of Radiographic Instability of the Trapeziometacarpal Joint in Women With Carpal Tunnel Syndrome.

PubMed

Kim, Jeong Hwan; Gong, Hyun Sik; Kim, Youn Ho; Rhee, Seung Hwan; Kim, Jihyoung; Baek, Goo Hyun

2015-07-01

To determine whether median nerve dysfunction measured by electrophysiologic studies in carpal tunnel syndrome (CTS) is associated with thumb trapeziometacarpal (TMC) joint instability. We evaluated 71 women with CTS and 31 asymptomatic control women. Patients with generalized laxity or TMC joint osteoarthritis were excluded. We classified the electrophysiologic severity of CTS based on nerve conduction time and amplitude and assessed radiographic instability of the TMC joint based on TMC joint stress radiographs. We compared subluxation ratio between patients with CTS and controls and performed correlation analysis of the relationship between the electrophysiologic grade and subluxation ratio. Thirty-one patients were categorized into the mild CTS subgroup and 41 into the severe CTS subgroup. There was no significant difference in subluxation ratio between the control group and CTS patients or between the control group and CTS subgroup patients. Furthermore, there was no significant correlation between electrophysiologic grade and subluxation ratio. This study demonstrated that patients with CTS did not have greater radiographic TMC joint instability compared with controls, and suggests that TMC joint stability is not affected by impaired median nerve function. Further studies could investigate how to better evaluate proprioceptive function of TMC joint and whether other nerves have effects on TMC joint motor/proprioceptive function, to elucidate the relationship between neuromuscular control of the TMC joint, its stability, and its progression to osteoarthritis. Diagnostic II. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Rating parent-child interactions: joint engagement, communication dynamics, and shared topics in autism, Down syndrome, and typical development.

PubMed

Adamson, Lauren B; Bakeman, Roger; Deckner, Deborah F; Nelson, P Brooke

2012-12-01

A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child's joint engagement correlated very strongly with state coding of joint engagement and replicated the finding that coordinated joint engagement was less likely in children with autism. Ratings of other child actions, of parent contributions, and of shared topics and communicative dynamics also documented pervasive variations related to diagnosis, language facility, and communicative context.

[Assessing the treatment for sacroiliac joint dysfunction, piriformis syndrome and tarsal tunnel syndrome associated with lumbar degenerative disease].

PubMed

Morimoto, Daijiro; Isu, Toyohiko; Shimoda, Yuusuke; Hamauchi, Shuuji; Sasamori, Tooru; Sugawara, Atsushi; Kim, Kyongsong; Matsumoto, Ryouji; Isobe, Masanori

2009-09-01

Sacroiliac joint (SIJ) dysfunction, piriformis syndrome (PFS) and tarsal tunnel syndrome (TTS) produce symptoms similar to lumbar degenerative disease (LDD). Patients who have these diseases plus LDD sometimes experience residual symptoms after surgery for LDD. We therefore assessed the results of treatment of SIJ dysfunction, PFS and TTS associated with LDD. We assessed 25 patients who underwent surgery for LDD and were affected with SIJ dysfunction (12 patients), PFS (7 patients) or TTS (6 patients). SIJ dysfunction was treated with rest, drugs, pelvic band and sacroiliac joint block. PFS was treated with rest, drugs, physical exercise, injection of local anesthetic into the piriformis muscle, and surgical resection of the piriformis muscle. TTS was treated with drugs and tarsal tunnel opening. We analyzed the improvement score and recovery rate (JOA score) for both LDD surgery and the treatment of SIJ dysfunction, PFS and TTS. Symptom improvement was observed in all patients with SIJ dysfunction and PFS and in 4 patients with TTS. The improvement score and recovery rate of treatments for SIJ dysfunction, PFS and TTS were lower than those of surgery for LDD. The improvement score and recovery rate of treatment for SIJ dysfunction, PFS and TTS were not as high as those for LDD. To enhance patient satisfaction, it is important to consider these complicating diseases when designing treatments for LDD.

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.

Laron syndrome abnormalities: spinal stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx.

PubMed

Kornreich, Liora; Horev, Gadi; Schwarz, Michael; Karmazyn, Boaz; Laron, Zvi

2002-04-01

Patients with Laron syndrome have an inborn growth hormone resistance. We investigated abnormalities in the upper airways and cervical spine in patients with Laron syndrome. We prospectively examined 11 patients (one child aged 9 years and 10 adults aged 36-68 years), 10 of whom underwent MR imaging of the spine or head; nine, radiography of the cervical spine; and four, CT of C1-C2. The width of the spinal canal was evaluated visually and quantitatively and compared with reference values. The smallest diameter of the oropharynx and the thickness of the palate were measured and compared with reference values. Nine age-matched female patients referred for MR imaging for unrelated reasons served as control subjects. Cervical spinal stenosis was present in seven of the adult patients, within a confidence interval of 95%. Anomaly of the dens compatible with os odontoideum was present in three patients, causing focal myelomalacia in two. The atlanto-odontoid joint showed osteoarthritic changes in six of the adult patients. The mediolateral diameter of the oropharynx was significantly smaller in the patients with Laron syndrome than in the control subjects (P <.005). There was no difference in the thickness of the soft palate. Patients with Laron syndrome develop significant narrowing of the cervical spinal canal and early degenerative changes of the atlanto-odontoid joint. Laron syndrome is associated with os odontoideum causing myelomalacia. The dimensions of the oropharynx are small. Patients may be prone to neurologic morbidity and sleep disturbances. Routine MR imaging of the cervical spine is recommended in these patients.

Lower extremity thrust and non-thrust joint mobilization for patellofemoral pain syndrome: a case report.

PubMed

Simpson, Brad G; Simon, Corey B

2014-05-01

A 40-year old female presented to physical therapy with a one-year history of insidious right anteromedial and anterolateral knee pain. Additionally, the patient had a history of multiple lateral ankle sprains bilaterally, the last sprain occurring on the right ankle 1 year prior to the onset of knee pain. The patient was evaluated and given a physical therapy diagnosis of patellofemoral pain syndrome (PFPS), with associated talocrural and tibiofemoral joint hypomobility limiting ankle dorsiflexion and knee extension, respectively. Treatment included a high-velocity low amplitude thrust manipulation to the talocrural joint, which helped restore normal ankle dorsiflexion range of motion. The patient also received tibiofemoral joint non-thrust manual therapy to regain normal knee extension mobility prior to implementing further functional progression exercises to her home program (HEP). This case report highlights the importance of a detailed evaluation of knee and ankle joint mobility in patients presenting with anterior knee pain. Further, manual physical therapy to the lower extremity was found to be successful in restoring normal movement patterns and pain-free function in a patient with chronic anterior knee pain.

Short-term effects of kinesio tape on joint position sense, isokinetic measurements, and clinical parameters in patellofemoral pain syndrome

PubMed Central

Kurt, Emine Eda; Büyükturan, Öznur; Erdem, Hatice Rana; Tuncay, Figen; Sezgin, Hicabi

2016-01-01

[Purpose] To evaluate the short-term effects of kinesio tape on joint position sense, isokinetic measurements, kinesiophobia, symptoms, and functional limitations in patients with patellofemoral pain syndrome. [Subjects and Methods] A total of 90 patients (112 knees) with patellofemoral pain syndrome were randomized into a kinesio tape group (n=45) or placebo kinesio tape group (n=45). Baseline isokinetic quadriceps muscle tests and measurements of joint position sense were performed in both groups. Pain was measured with a Visual Analog Scale, kinesiophobia with the Tampa kinesiophobia scale, and symptoms and functional limitations with the Kujala pain scale. Measurements were repeated 2 days after kinesio tape application. [Results] No differences were found between baseline isokinetic muscle measurements and those taken 2 days after application. However, significant improvements were observed in the kinesio tape group, with regard to joint position sense, pain, kinesiophobia, symptoms, and functional limitations after treatment. Examination of the differences between pre- and post-treatment values in both groups revealed that the kinesio tape group demonstrated greater improvements compared to the placebo kinesio tape group. [Conclusion] Although short-term kinesio tape application did not increase hamstring muscle strength, it may have improved joint position sense, pain, kinesiophobia, symptoms, and daily limitations. PMID:27512259

[Bilateral chronic dislocation of the temporomandibular joints and Meige syndrome].

PubMed

Arzul, L; Henoux, M; Marion, F; Corre, P

2015-04-01

Chronic dislocation of the temporo-mandibular joint (TMJ) is rare. It occurs when an acute dislocation is left untreated, in certain situations, including severe illness, neurologic or psychiatric diseases or prolonged oral intubation. A 79 years old woman, with Meige syndrome, suffered from bilateral dislocation of the TMJ for over 1 year. Surgical repositioning of the mandibular condyles and temporal bone eminectomy were performed. At the 18 postoperative months control, no recurrence has been noted. Treatment of chronic TMJ dislocations often requires a surgical procedure. Manual reduction, even under general anaesthesia, often fails because of severe muscular spasm and periarticular fibrotic changes. The management of this disorder is still controversial. We review available surgical procedures. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Lower extremity thrust and non-thrust joint mobilization for patellofemoral pain syndrome: a case report

PubMed Central

Simpson, Brad G; Simon, Corey B

2014-01-01

A 40-year old female presented to physical therapy with a one-year history of insidious right anteromedial and anterolateral knee pain. Additionally, the patient had a history of multiple lateral ankle sprains bilaterally, the last sprain occurring on the right ankle 1 year prior to the onset of knee pain. The patient was evaluated and given a physical therapy diagnosis of patellofemoral pain syndrome (PFPS), with associated talocrural and tibiofemoral joint hypomobility limiting ankle dorsiflexion and knee extension, respectively. Treatment included a high-velocity low amplitude thrust manipulation to the talocrural joint, which helped restore normal ankle dorsiflexion range of motion. The patient also received tibiofemoral joint non-thrust manual therapy to regain normal knee extension mobility prior to implementing further functional progression exercises to her home program (HEP). This case report highlights the importance of a detailed evaluation of knee and ankle joint mobility in patients presenting with anterior knee pain. Further, manual physical therapy to the lower extremity was found to be successful in restoring normal movement patterns and pain-free function in a patient with chronic anterior knee pain. PMID:24976753

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.

[Association between joint of heat and noise and metabolic syndrome in steel workers].

PubMed

Li, Xue; Wang, Chaoyang; Fan, Hongmin; Wang, Xiaokai; Zhang, Meihang; Jia, Chongyan; Chai, Feng; Chen, Yinping; Hu, Bo; Yuan, Juxiang; Dong, Ya'nan; Wang, Jianbo

2015-01-01

To analyze the relationship between joint of heat and noise, and metabolic syndrome in a steel rolling factory workers. A total of 590 steel workers were selected as subjects by cluster sampling method from workers of a steel factory. They were investigated by face to face way with the unified questionnaire which contents included personal information, occupational history, personal history, habits and other factors. Furthermore, height, weight, waist circumference and blood pressure were measured. Referring to the 2005 International Diabetes Federation (IDF) issued by the metabolic syndrome (MS) worldwide uniform definition combines waist diagnosis MS. A database was built by Epidata 3.0 software, and data was analyzed by SPSS 17.0. 571 steel workers were from 22 to 60 years, mean age (41.2 -7.9) years old. The prevalence of metabolic syndrome in steel workers was 17.9%. The prevalence of metabolic syndrome of those who exposed to high temperature was 18.8%, higher than that of those who did not expose to high temperature (5.3%), there was a statistically significant difference (P < 0.05). The prevalence of metabolic syndrome of those who exposed to noise was 20.6%, higher than that of those who did not exposed to noise (14.0%) (P < 0.05). After adjusting for the effects of confounding factors, the prevalence of MS those who exposed to high temperatures and noise is 1.118 times as high as that of those who did not exposed to high temperatures and noise. The combined effects of heat and noise is related to the increasing prevalence of MS of steel workers.

What Is Antiphospholipid Antibody Syndrome?

MedlinePlus

... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

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.

Functional assessments of the knee joint biomechanics by using pendulum test in adults with Down syndrome

PubMed Central

Casabona, Antonino; Valle, Maria Stella; Pisasale, Mariangela; Pantò, Maria Rosita

2012-01-01

In this study, we assessed kinematics and viscoelastic features of knee joint in adults with Down syndrome (DS) by means of the Wartenberg pendulum test. This test allows the measuring of the kinematics of the knee joint during passive pendular motion of leg under the influence of gravity. In addition, by a combination of kinematic and anthropometric data, pendulum test provides estimates of joint viscoelastic properties by computing damping and stiffness coefficients. To monitor the occurrences of muscle activation, the surface electromyogram (EMG) of muscle rectus femoris was recorded. The experimental protocol was performed in a group of 10 adults with DS compared with 10 control adults without DS. Joint motion amplitude, velocity, and acceleration of the leg during the first knee flexion significantly decreased in persons with DS with respect to those without DS. This behavior was associated with the activation of rectus femoris in subjects with DS that resulted in increasing of joint resistance shortly after the onset of the first leg flexion. The EMG bursts mostly occurred between 50 and 150 ms from the leg flexion onset. During the remaining cycles of pendular motion, persons with DS exhibited passive leg oscillations with low tonic EMG activity and reduced damping coefficient compared with control subjects. These results suggest that adults with DS might perform preprogrammed contractions to increase joint resistance and compensate for inherent joint instability occurring for quick and unpredictable perturbations. The reduction of damping coefficients observed during passive oscillations could be a predictor of muscle hypotonia. PMID:22995394

Rating Parent-Child Interactions: Joint Engagement, Communication Dynamics, and Shared Topics in Autism, Down Syndrome, and Typical Development

ERIC Educational Resources Information Center

Adamson, Lauren B.; Bakeman, Roger; Deckner, Deborah F.; Nelson, P. Brooke

2012-01-01

A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child's…

Incudomalleal joint formation: the roles of apoptosis, migration and downregulation

PubMed Central

Amin, Susan; Matalova, Eva; Simpson, Carol; Yoshida, Hiroki; Tucker, Abigail S

2007-01-01

Background The middle ear of mammals is composed of three endochondrial ossicles, the stapes, incus and malleus. Joints link the malleus to the incus and the incus to the stapes. In the mouse the first arch derived malleus and incus are formed from a single Sox9 and Type II collagen expressing condensation that later subdivides to give rise to two separate ossicles. In contrast the stapes forms from a separate condensation derived from the second branchial arch. Fusion of the malleus and incus is observed in a number of human syndromes and results in conductive hearing loss. Understanding how this joint forms during normal development is thus an important step in furthering our understanding of such defects. Results We show that the developing incudomalleal joint is characterised by a lack of proliferation and discrete areas of apoptosis. Apoptosis has been suggested to aid in the removal of pre-cartilaginous cells from the joint region, allowing for the physical separation of the cartilaginous elements, however, we show that joint initiation is unaffected by blocking apoptosis. There is also no evidence of cell migration out of the presumptive joint region, as observed by labelling of joint and ossicle cells in culture. Using Type II collagen lacZ reporter mice, however, it is evident that cells in the presumptive joint region remain in place and downregulate cartilage markers. Conclusion The malleus and incus first appear as a single united condensation expressing early cartilage markers. The incudomalleal joint region forms by cells in the presumptive joint region switching off cartilage markers and turning on joint markers. Failure in this process may result in fusion of this joint, as observed in human syndromes such as Branchio-Oto-Renal Syndrome or Treacher Collins Syndrome. PMID:18053235

The Individual, Joint, and Additive Interaction Associations of Aerobic-Based Physical Activity and Muscle Strengthening Activities on Metabolic Syndrome.

PubMed

Dankel, Scott J; Loenneke, Jeremy P; Loprinzi, Paul D

2016-12-01

Previous research has demonstrated that physical activity and muscle strengthening activities are independently and inversely associated with metabolic syndrome. Despite a number of studies examining the individual associations, only a few studies have examined the joint associations, and to our knowledge, no previous studies have examined the potential additive interaction of performing muscle strengthening activities and aerobic-based physical activity and their association with metabolic syndrome. Using data from the 2003 to 2006 National Health and Nutrition Examination Survey (NHANES), we computed three separate multivariable logistic regression models to examine the individual, combined, and additive interaction of meeting guidelines for accelerometer-assessed physical activity and self-reported muscle strengthening activities, and their association with metabolic syndrome. We found that individuals meeting physical activity and muscle strengthening activity guidelines, respectively, were at 61 and 25 % lower odds of having metabolic syndrome. Furthermore, individuals meeting both guidelines had the lowest odds of having metabolic syndrome (70 %), in part due to the additive interaction of performing both modes of exercise. In this national sample, accelerometer-assessed physical activity and muscle strengthening activities were synergistically associated with metabolic syndrome.

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

Nontraumatic subluxation of the atlanto-axial joint as rare form of acquired torticollis: diagnosis and clinical features of the Grisel's syndrome.

PubMed

Pilge, Hakan; Prodinger, Peter M; Bürklein, Dominik; Holzapfel, Boris M; Lauen, Jochen

2011-05-15

Case report and review of the literature. We report a case of Grisel's syndrome with a delayed diagnosis. The patient's first presentation in our pediatric orthopedics department was 2 month after surgery (cochlea implantation) with a persistent torticollis. Radiographs revealed a subluxated atlantoaxial joint. We treated our patient with manual repositioning and calculated antibiotics, which lead to a restitutio ad integrum within a short time. Grisel's syndrome is synonymous with rare nontraumatic, rotational subluxation of the atlantoaxial joint (C1-C2). All formerly reported cases showed a clear association to infection or were related to head and neck surgery. Still, there is a lack of understanding about pathogenetic features and causative agents. In 1977 Fielding proposed a classification of the atlantoaxial subluxation and stage-related therapy was recommended. Our patient was a 11-year-old girl with a torticollis after insertion of a cochlea implant. After surgery, physiotherapy was performed because of her wryneck. As the symptoms did not improve, she was presented in our clinic. Our radiographs revealed a subluxated atlantoaxial joint. In general anesthesia we performed a manual repositioning and she was temporarily immobilized with a cervical collar for 2 weeks. In addition, we administered calculated antibiotics, although CRP and leukocytes were not elevated. The follow up showed a good repositioning within a short time. At least in this case, our treatment led to shorter recovery and avoidance of halo fixation. Our new therapeutic approach to patients with Grisel's syndrome might lead to a shorter recovery.

Unilateral Ankylosis of Temporomandibular Joint (TMJ) with Contralateral Condylar Aplasia and Related Orthopedic Deformity – Syndromic or Nonsyndromic?

PubMed Central

Vijay, Pradkhshana; Sunil, VSB; Bajpai, Manas; Chhibber, Neha

2015-01-01

Condylar aplasia which means “failure of development” is a rare condition and can be unilateral or bilateral. Mandibular condylar Aplasia without any association with syndrome is extremely rare. Temporomandibular joint (TMJ) ankylosis results from trauma, infection and inadequate surgical treatment of the condylar area. Congenital cases are very rare. We report case of congenital unilateral aplasia of left mandibular condyle with ankylosis of right condyle, with an associated orthopedic deformity in a nine-year-old male patient, which may be a part of some unreported syndrome that has not been mentioned so far in literature. As per our best knowledge, no other case including such clinical features has been reported. PMID:25738097

Intra-articular Fibroma of Tendon Sheath in Knee Joint Associated with Iliotibial Band Friction Syndrome: Rare Occurrence in a Teenage Girl

PubMed Central

Rathore, Sameer; Quadri, Vasil; Tapadia, Sanjay; Krishnaiah, K; Krishna, V P Nithin

2017-01-01

Introduction: Iliotibial band (ITB) friction syndrome is a common overuse injury typically seen in active athlete population. A nodular lesion on the inner side of the ITB as an etiology or an accompanying lesion with friction syndrome has rarely been reported. Among such nodular lesions around knee, fibroma of tendon sheath (FTS) is a rare occurrence. All the more intra-articular occurrence is extremely rare. Case Report: A 16-year-old female presented with recurrent pain and movable nodule at the lateral joint area, diagnosed as ITB friction syndrome. The nodule was confirmed as rare intra-articular FTS on the basis of histopathology findings. Conclusion: When nodular lesions around knee are detected on magnetic resonance imaging, a FTS could be included in the differential diagnosis. Etiology and pathogenesis of ITB friction syndrome should be revised in view of such rare presentations. PMID:28630835

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

[Clinical Trial to Test the iFuse Implant System® in Patients with Sacroiliac Joint Syndrome: One Year Results].

PubMed

Bornemann, R; Pflugmacher, R; Webler, M; Koch, E M W; Dengler, J; Wirtz, D C; Frey, S P

2016-12-01

Background: This study reports one year post-operative monitoring of the efficacy and safety of iFuse Implant System® in patients with sacroiliac joint syndrome. Material and Methods: After 6 months of inadequate conservative treatment, patients with properly proven ISG syndrome were selected for surgery. The iFuse implants had a triangular profile and coating of porous titanium plasma spray and were used in the minimally invasive procedures. The procedure was performed under general anaesthesia and fluoroscopic control. In each case, three implants were placed. Results: 24 patients (22 f; 92 %; 54.9 ± 14 years) participated in the study. The operations were performed in 11 patients (46 %) on the left and in 13 patients (54 %) on the right. The mean operative time was 42.4 minutes (95 % CI: 35.6-49.3). The reduction in pain intensity on the VAS scale was 58 ± 11 mm (68 ± 7 %). The Oswestry score showed a median decrease of 44 percentage points (57 %). After 12 months, 15 patients (63 %) reported that they were taking no more painkillers. Conclusion: The minimally invasive treatment of patients with sacroiliac joint syndrome using the iFuse Implant System leads to significant analgesic effects over the period of one year; it also contributes significantly to improving the functioning of the patient. Georg Thieme Verlag KG Stuttgart · New York.

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

Manipulative management of the temporomandibular joint pain-dysfunction syndrome: a report of two cases

PubMed Central

Nykoliation, J. W.; Cassidy, J. D.

1984-01-01

The temporomandibular pain-dysfunction syndrome (TMJ-PDS) is a frequent but often unappreciated cause of head, neck, and facial pain. Information regarding its etiology, pathophysiology, diagnosis, and treatment is fragmentary, and often reflects an approach influenced by the background specialty of the involved practitioner. Current treatment is often multidisciplinary, involving the use of various dental splints in conjunction with physiotherapy, psychotherapy, and analgesic medication. This paper suggests that chiropractic manipulation to the temporomandibular joints (TMJ) may be an effective approach to treatment of TJM-PDS. Illustrative cases are presented. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5Figure 6Figure 6Figure 7Figure 8Figure 9

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.

Sacroiliac joint dysfunction.

PubMed

Ilaslan, Hakan; Arslan, Ahmet; Koç, Omer Nadir; Dalkiliç, Turker; Naderi, Sait

2010-07-01

Sacroiliac joint dysfunction is a disorder presenting with low back and groin pain. It should be taken into consideration during the preoperative differential diagnosis of lumbar disc herniation, lumbar spinal stenosis and facet syndrome. Four cases with sacroiliac dysfunction are presented. The clinical and radiological signs supported the evidence of sacroiliac dysfunction, and exact diagnosis was made after positive response to sacroiliac joint block. A percutaneous sacroiliac fixation provided pain relief in all cases. The mean VAS scores reduced from 8.2 to 2.2. It is concluded that sacroiliac joint dysfunction diagnosis requires a careful physical examination of the sacroiliac joints in all cases with low back and groin pain. The diagnosis is made based on positive response to the sacroiliac block. Sacroiliac fixation was found to be effective in carefully selected cases.

Radiological characteristics of the knee joint in nail patella syndrome.

PubMed

Tigchelaar, S; Rooy, J de; Hannink, G; Koëter, S; van Kampen, A; Bongers, E

2016-04-01

Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification. Patellar aplasia was present in 4/90 (4%), and patellar hypoplasia in 77/90 (86%) of patients. The prevailing patellar shapes were type III, type IV and Hunter's cap. No patellar shape genotype-phenotype association could be found. The malformations of the distal femur comprised shortening of the lateral femoral condyle in 46 out of 84 patients (55%), with a prominent anterior surface of the lateral femoral condyle in 47 out of 84 patients (56%) and a flat anterior surface of the medial femoral condyle in 78 out of 85 patients (92%). The trochlea was type A1 according to the Dejour classification in 79 out of 85 patients (93%). An easily recognisable characteristic quartet of malformations consisting of patellar aplasiaor hypoplasia and the malformations of the distal femur was found in 22 out of 81 patients (27%), with the majority displaying at least three malformations. The distinct malformations of the knee in nail patella syndrome are easily recognisable on conventional radiographs and lead to the correct interpretation of the aberrant morphology which is essential in the treatment of these patellofemoral disorders. ©2016 The British Editorial Society of Bone & Joint Surgery.

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

[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.

Metabolic syndrome-associated osteoarthritis.

PubMed

Courties, Alice; Sellam, Jérémie; Berenbaum, Francis

2017-03-01

Interest in the metabolic syndrome-associated osteoarthritis phenotype is increasing. Here, we summarize recently published significant findings. Meta-analyses confirmed an association between type 2 diabetes and osteoarthritis and between cardiovascular diseases and osteoarthritis. Recent advances in the study of metabolic syndrome-associated osteoarthritis have focused on a better understanding of the role of metabolic diseases in inducing or aggravating joint damage. In-vivo models of obesity, diabetes, or dyslipidemia have helped to better decipher this association. They give emerging evidence that, beyond the role of common pathogenic mechanisms for metabolic diseases and osteoarthritis (i.e., low-grade inflammation and oxidative stress), metabolic diseases have a direct systemic effect on joints. In addition to the impact of weight, obesity-associated inflammation is associated with osteoarthritis severity and may modulate osteoarthritis progression in mouse models. As well, osteoarthritis synovium from type 2 diabetic patients shows insulin-resistant features, which may participate in joint catabolism. Finally, exciting data are emerging on the association of gut microbiota and circadian rhythm and metabolic syndrome-associated osteoarthritis. The systemic role of metabolic syndrome in osteoarthritis pathophysiology is now better understood, but new avenues of research are being pursued to better decipher the metabolic syndrome-associated osteoarthritis phenotype.

CT-Guided Transfacet Pedicle Screw Fixation in Facet Joint Syndrome: A Novel Approach

PubMed Central

Manfré, Luigi

2014-01-01

Summary Axial microinstability secondary to disc degeneration and consequent chronic facet joint syndrome (CFJS) is a well-known pathological entity, usually responsible for low back pain (LBP). Although posterior lumbar fixation (PIF) has been widely used for lumbar spine instability and LBP, complications related to wrong screw introduction, perineural scars and extensive muscle dissection leading to muscle dysfunction have been described. Radiofrequency ablation (RFA) of facet joints zygapophyseal nerves conventionally used for pain treatment fails in approximately 21% of patients. We investigated a “covert-surgery” minimal invasive technique to treat local spinal instability and LBP, using a novel fully CT-guided approach in patients with axial instability complicated by CFJS resistant to radioablation, by introducing direct fully or partially threaded transfacet screws (transfacet fixation - TFF), to acquire solid arthrodesis, reducing instability and LBP. The CT-guided procedure was well tolerated by all patients in simple analogue sedation, and mean operative time was approximately 45 minutes. All eight patients treated underwent clinical and CT study follow-up at two months, revealing LBP disappearance in six patients, and a significant reduction of lumbar pain in two. In conclusion, CT-guided TFF is a fast and safe technique when facet posterior fixation is needed. PMID:25363265

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.

Facet joint laser radiation: tissue effects of a new clinical laser application

NASA Astrophysics Data System (ADS)

Werkmann, Klaus; Thal, Dietmar R.

1996-01-01

Chronic unilateral and bilateral back pain with pseudoradicular symptoms, is a common clinical syndrome, which in many cases can be related to the facet joint syndrome. The pain is caused by mechanical affection of synovial and capsular nerve terminals. Therefore, current therapeutical attempts including physical therapy, intra-articular injection of local anesthetics and steroids and thermocoagulation of the facet joint with a thermocoagulator, are performed. We confirmed laser coagulation of the facet joint. Porcine cadaveric spines were treated immediately after death by intra-articular facet joint laser radiation. With the pulsed Nd:YAG laser (1064 nm) altogether 600 J were applied in three different places 4 mm apart at the top of the facet joint. The results showed that facet joint laser radiation leads to a small (about 1 - 2 mm diameter) lesion restricted to the facet joint cavity and its synovia. Histologically, we found a central carbonization zone and necrosis, including almost the whole cartilage and approximately 0.2 mm of the adjacent bone. These changes are similar to Nd:Yag-laser applications in other skeletal regions. It is suggested that these changes may lead to facet joint denervation by coagulation of the synovial nerve terminals. Cicatration of the laser lesion might cause ankylosis of this joint. In sum, facet joint laser radiation could be an alternative therapeutical tool for lower back pain of the facet joint syndrome type. Therefore, future clinical application of this technique seems to be very promising.

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

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.

Hip Joint Effusion-Synovitis Is Associated With Hip Pain and Sports/Recreation Function in Female Professional Ballet Dancers.

PubMed

Mayes, Susan; Ferris, April-Rose; Smith, Peter; Cook, Jill

2018-03-23

To compare hip joint effusion-synovitis prevalence in professional ballet dancers with nondancing athletes and to evaluate the relationship between effusion-synovitis and clinical measures and cartilage defects. Case-control study. Elite ballet and sport. Forty-nine professional ballet dancers and 49 age-matched and sex-matched athletes. Group (dancers/athletes), sex, age, years of training, Copenhagen Hip and Groin Outcome Scores (HAGOSs), hip rotation range of motion (ROM), generalized joint hypermobility (GJH), and hip cartilage defect scores. Hip joint effusion-synovitis (absent, grade 1 = 2-4 mm, grade 2 = >4 mm) scored with 3-Tesla magnetic resonance imaging. Hip joint effusion-synovitis was found in 22 (45%) dancers and 13 (26.5%) athletes (P = 0.06). Grade 2 effusion-synovitis was only found in dancers (n = 8, r = 0.31, P = 0.009). The prevalence of effusion-synovitis was similar in men (n = 11, 26%) and women (n = 24, 43%, P = 0.09). Female dancers with effusion-synovitis had lower HAGOS pain (r = 0.63, P = 0.001) and sports/recreation scores (r = 0.66, P = 0.001) compared with those without effusion-synovitis. The HAGOS scores were not related to effusion-synovitis in male dancers or female and male athletes (P > 0.01 for all). Effusion-synovitis was not related to hip ROM, GJH, or cartilage defect scores (P > 0.05 for all). Hip joint effusion-synovitis was related to higher levels of pain and lower sports/recreation function in female ballet dancers. Effusion-synovitis was not related to hip rotation ROM, GJH or cartilage defects. Larger sized joint effusion-synovitis was exclusively found in dancers.

Persistent Iliosacral Joint Syndrome following Instrumentation to the Sacropelvis in Patients with Adult Spinal Deformity.

PubMed

Diesing, Daniela; Franke, Joerg; Tschoeke, Sven Kevin; Schultheiß, Rolf; Scheufler, Kai Michael

2018-05-31

 Persistent sacroiliac joint syndrome (PSIJS) may complicate adult spinal deformity surgery (ASDS). This study assesses the relationship between clinical/morphometric parameters and PSIJS following ASDS including pelvic fixation and the therapeutic efficacy of secondary iliosacral fusion (ISF).  Perioperative health-related quality of life (HRQOL) outcomes (Oswestry Disability Index, Short Form 12-item health survey, version 2 scores) at 6, 12, and 24 months, and radiographic studies were analyzed retrospectively in a cohort of 71 consecutive patients undergoing ASDS. PSIJS was confirmed in nine individuals (12.7%) by placebo-controlled dual sacroiliac joint (SIJ) blocks. The relationships between global and regional spinopelvic morphometry, PSIJS, and HRQOL outcomes were assessed by logistic regression and receiver operating characteristic curve (ROC) analysis.  PSIJS, independently causing significantly reduced improvement in HRQOL scores ( p  < 0.001) 6 months postoperatively, warranted secondary ISF in nine patients (12.7%) within 12 months of index surgery, without evidence of progressive SIJ arthrosis, pseudarthrosis, or hardware issues. Eight of nine patients undergoing secondary ISF reported≥ 70% pain reduction at 24 months. Logistic regression/ROC analysis revealed a close association between PSIJS and nonharmonious postoperative L4-S1 fractional lordosis ( p  < 0.0001), pelvic incidence angle > 53 degrees, hip arthrosis, and preexistent advanced SIJ arthrosis ( p  < 0.01).  PSIJS may negatively impact the clinical outcome of ASDS. Recurrent preoperative SIJ syndrome requiring interventional treatment, preexisting hip and SIJ arthrosis, insufficient restoration of L4-S1 fractional lordosis, and high pelvic incidence predispose to PSIJS. PSIJS may potentially be avoided by restoring physiologic lumbosacral geometry and S2 sacral alar-iliac screw fixation during index surgery. Secondary ISF appears to be effective in reducing pain

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.

Evaluation of Postural Asymmetry and Gross Joint Mobility in Elite Female Volleyball Athletes

PubMed Central

Vařeková, Renata; Vařeka, Ivan; Janura, Miroslav; Svoboda, Zdenek; Elfmark, Milan

2011-01-01

The purpose of the study was to evaluate marked postural asymmetry and gross joint mobility in elite female volleyball athletes. Sixty-two Czech and Slovak elite female volleyball athletes (age 20.7±2.03 years, body mass 71.1±6.18 kg, body height 1.804±.0618 m, BMI 21.8±1.78) were examined by an experienced rehabilitation physician. The set of tests included the frontal posture gross examination, the forward bending test from the standing position and the deep squat test. The spiking hand and the presence of any lower extremity injury were estimated by interview. The proportion test, Mann-Whitney test and t-test were used to evaluate statistical significance (p<0.05). Fifty subjects (80.6%) exhibited “typical” frontal plane posture in which the acromion, scapula and the iliac crest were in a higher position on the left side than on the right, significantly more frequently than all the other patterns (proportion test, p<0.0001). Ninety-eight percent of the subjects with the “LLL pattern” preferred the right arm for spiking (proportion test, p<0.0001). Forty-one subjects (66%) exhibited hypermobility in the forward bending test, significantly more frequently than twenty-one subjects (34%) with normal results (proportion test, p=0.0003). Thirty-four subjects (55%) did not succeed in the deep squat test and hypermobility in the forward bending test paradoxically prevailed in them significantly (proportion test, p=0.004). Restriction in the deep squat test was not linked to obesity, age (t-test, p=0.081) nor knee (proportion test, p=0.85) and ankle injury (Mann-Whitney test, p=0.36) in the past. Significant prevalence of hypermobility in the forward bending test was not surprising because of general body composition and the performance of regular stretching exercises in elite female volleyball athletes. On the other hand, surprisingly, more than half of the subjects did not succeed in the deep squat test. The cause of poor results in the deep squat test

A Prospective Study Comparing Platelet-Rich Plasma and Local Anesthetic (LA)/Corticosteroid in Intra-Articular Injection for the Treatment of Lumbar Facet Joint Syndrome.

PubMed

Wu, Jiuping; Zhou, Jingjing; Liu, Chibing; Zhang, Jun; Xiong, Wei; Lv, Yang; Liu, Rui; Wang, Ruiqiang; Du, Zhenwu; Zhang, Guizhen; Liu, Qinyi

2017-09-01

To compare the effectiveness and safety between autologous platelet-rich plasma (PRP) and Local Anesthetic (LA)/corticosteroid in intra-articular injection for the treatment of lumbar facet joint syndrome. Forty-six eligible patients with lumbar facet joint syndrome were randomized into group A (intra-articular injection with PRP) and group B (intra-articular injection with LA/corticosteroid). The following contents were evaluated: pain visual analog scale (VAS) at rest and during flexion, and the Roland-Morris Disability Questionnaire (RMQ), Oswestry Disability Index (ODI), and modified MacNab criteria for pain relief and applications of post-treatment drugs. All outcome assessments were performed immediately after and at 1 week, 1, 2, 3, and 6 months after treatment. No significant difference between groups was observed at baseline. Compared with pretreatment, both group A and group B demonstrated statistical improvements in the pain VAS score at rest or during flexion, the RMQ, and the ODI (P < 0.01). And there were significant differences between the 2 groups on the above-mentioned items (P < 0.05). For group B, subjective satisfaction based on the modified MacNab criteria and objective success rate were highest (80% and 85%) after 1 month, but only 50% and 20% after 6 months. However, for group A, they increased over time. In addition, there were no treatment-related complications in either group during follow-up. Both autologous PRP and LA/corticosteroid for intra-articular injection are effective, easy, and safe enough in the treatment of lumbar facet joint syndrome. However, autologous PRP is a superior treatment option for longer duration efficacy. © 2016 World Institute of Pain.

[Association between limited joint mobility syndrome and risk of accidental falls in diabetic patients].

PubMed

López-Martín, I; Benito Ortiz, L; Rodríguez-Borlado, B; Cano Langreo, M; García-Martínez, F J; Martín Rodríguez, M F

2015-03-01

Limited joint mobility syndrome (LJMS) appears exclusively in both type 1 and type 2 diabetic patients. It is characterized by a limited range of digital motion, with involvement of small joints of the hands. It initially affects the proximal interphalangeal joints, followed by wrists, elbows, shoulders, knees, and axial skeleton. The diagnosis can be made by the simple "prayer sign" test. The objective was to study the prevalence of diabetic patients with LJMS, and to evaluate the association between LJMS and metabolic control, and the risk of accidental falls. A cross-sectional study was conducted in the San Fernando II Health Centre, Madrid (suburbs). The sample consisted of 184 patients with a diagnosis of diabetes of over 5 years from November to March, 2013. The prayer sign was used to define which patients had LJMS. Fall risk was determined using the Timed Up & Go test. A total of 99 patients (53.8%) (95% CI 46.6 to 61) had a positive prayer sign. No statistically significant relationship was found with HbA1c, but there was an association with the Timed Up & Go test (P<.001) (95% CI 1.173 to 1.611). The patients with LJMS had a moderate risk of falls compared with those without LJMS, which was of low risk. The prevalence of LJMS is high. This is the first study that shows a relationship between LJMS and the risk of falls in diabetic patients. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci

PubMed Central

Park, Min A.; Shin, So Youn; Kim, Young Jin; Park, Myung Jae; Lee, Seung Hyeun

2017-01-01

Abstract Rationale: Vascular Ehlers–Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS. Patient concerns: We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax. Diagnoses: Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder. Interventions: The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS. Outcomes: Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications. Lessons: To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the

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.

Temporomandibular joint dysfunction syndrome. A clinical report.

PubMed

Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

1985-08-01

We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

Further delineation of Nevo syndrome.

PubMed Central

al-Gazali, L I; Bakalinova, D; Varady, E; Scorer, J; Nork, M

1997-01-01

Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further children from two unrelated Arab families from two different tribes. Both presented at birth with hypotonia, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Both have delayed motor development at the ages of 2 years 10 months and 3 months respectively. Cognitive development is normal in one, and the other case appears to be developing normally at 3 months of age. One has, in addition, a wide spinal canal on MRI of the spine indicating some degree of dural ectasia. This report brings the total number of children reported with this syndrome to six from four families; three of these families are Arab. This indicates that the gene for this syndrome is probably commoner in Arabs than in other populations. Images PMID:9152832

[Locomotive syndrome and frailty. Locomotive syndrome due to the underlying disease of degenerative arthritis].

PubMed

Chosa, Etsuo

2012-04-01

Japan became a superaging society. We have been putting a new focus on locomotive syndrome and frailty. The prevention and treatment of locomotive syndromes, such as osteoarthritis, degenerative spondylosis, lumbar canal stenosis, osteoporosis, upper extremity diseases, rheumatoid arthritis, and many other disorders of the locomotive organs are important. Because, the locomotive syndrome results in deterioration of the exercise function and loss of mental and physical health. The aim of locomotive syndrome exercises are: to reduce pain, to restore and improve joint function. We need to take a comprehensive approach to locomotive syndrome, including lifestyle modification, muscle exercise, stretching and therapeutic exercise.

Questions & Answers about...Marfan Syndrome.

ERIC Educational Resources Information Center

National Inst. of Arthritis and Musculoskeletal and Skin Diseases (NIH), Bethesda, MD.

This fact sheet answers general questions about Marfan syndrome, a heritable condition that affects the connective tissue. It describes the characteristics of the disorder, the diagnostic process, and ways to manage symptoms. Characteristics include: (1) people with Marfan syndrome are typically very tall, slender, and loose jointed; (2) more than…

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.

TEMPOROMANDIBULAR PAIN DYSFUNCTION SYNDROME IN PATIENTS ATTENDING LAGOS UNIVERSITY TEACHING HOSPITAL, LAGOS, NIGERIA.

PubMed

Eweka, O M; Ogundana, O M; Agbelusi, G A

2016-01-01

Temporomandibular joint pain dysfunction syndrome (TMJPDS) is the most common temporomandibular disorder. This condition presents with symptoms of pain, restricted jaw movement and joint noise. Other symptoms include otalgia, headache, neck pain and trismus. To determine the pattern of Temporomandibular joint pain dysfunction syndrome patients managed at the Lagos University Teaching Hospital, Lagos, Nigeria. A descriptive study of patients with signs and symptoms of Temporomandibular joint pain dysfunction syndrome attending the Oral Medicine Clinic of Lagos University Teaching Hospital. Twenty-one patients with Temporomandibular joint pain dysfunction syndrome were enrolled into the study, out of which 10(48%) were females and 11(52%) were males. The age range was 23-81years with a mean of 45.2 ± 18.9 years. Majority of the patients 20(95.2%) complained of pain around the joint, in the pre-auricular region, in the muscles of mastication and the ear. While 7(35%) complained of clicking sounds, 10(47.6%) complained of pain on mouth opening and during mastication only. In all 5(23.8%) had impaired movement of the jaws, mouth opening was normal in 18(85.7%) but reduced in 3(14.3%) patients. Over half of patients 12(57%) experienced clicking sounds, there was tenderness around the temporomandibular joint in 16(76.2%) cases, pain in the ear of 7(33.3%) patients and 13(61.9%) people presented with tenderness of the muscles of mastication. Conservative management of all the cases resulted in resolution of the symptoms. Temporomandibular joint pain dysfunction syndrome has diverse clinical presentation and though distressing, it responds to prompt and effective conservative management.

[Divorce and joint physical custody].

PubMed

Golse, B

2014-04-01

This work first recalls the definition of joint physical custody, as well as the current legal procedure for obtaining it, its practical implementation, the financial implications for parents, and finally some statistics. Some psychological and psychopathological reflections on the impact of divorce on children are then presented before considering the question of joint physically custody with regard to attachment theory and depending on the age of the child (a great caution seems to be required before three years). The article concludes with a brief discussion of parental alienation syndrome. Copyright © 2014. Published by Elsevier SAS.

Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

PubMed

Park, Min A; Shin, So Youn; Kim, Young Jin; Park, Myung Jae; Lee, Seung Hyeun

2017-11-01

Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS. We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax. Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder. The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS. Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications. To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical

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

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.

Friction Syndromes of the Knee: The Iliotibial Band and Anterior Fat Pads.

PubMed

Wissman, Robert D; Pomeranz, Stephen J

2018-01-01

As participation in sporting activities increases among the general population, the incidence of overuse injuries continues to rise. Friction syndromes of the knee are common and are often clinically diagnosed without the need for imaging. However, clinical symptoms may overlap with other joint abnormalities, and physical examination may be limited in individuals with excessive pain. Magnetic resonance imaging has remained the modality of choice for the evaluation of internal derangements of the joints and is a useful aid in the diagnosis of friction syndrome of the knee. This case report provides clinicians with an understanding of the most common friction syndromes of the knee joint as well as their imaging findings. (Journal of Surgical Orthopaedic Advances 27(1):77-80, 2018).

Effects of medially wedged foot orthoses on knee and hip joint running mechanics in females with and without patellofemoral pain syndrome.

PubMed

Boldt, Andrew R; Willson, John D; Barrios, Joaquin A; Kernozek, Thomas W

2013-02-01

We examined the effects of medially wedged foot orthoses on knee and hip joint mechanics during running in females with and without patellofemoral pain syndrome (PFPS). We also tested if these effects depend on standing calcaneal eversion angle. Twenty female runners with and without PFPS participated. Knee and hip joint transverse and frontal plane peak angle, excursion, and peak internal knee and hip abduction moment were calculated while running with and without a 6° full-length medially wedged foot orthoses. Separate 3-factor mixed ANOVAs (group [PFPS, control] x condition [medial wedge, no medial wedge] x standing calcaneal angle [everted, neutral, inverted]) were used to test the effect of medially wedged orthoses on each dependent variable. Knee abduction moment increased 3% (P = .03) and hip adduction excursion decreased 0.6° (P < .01) using medially wedged foot orthoses. No significant group x condition or calcaneal angle x condition effects were observed. The addition of medially wedged foot orthoses to standardized running shoes had minimal effect on knee and hip joint mechanics during running thought to be associated with the etiology or exacerbation of PFPS symptoms. These effects did not appear to depend on injury status or standing calcaneal posture.

Joint Engagement and Early Language in Young Children With Fragile X Syndrome

PubMed Central

Brady, Nancy C.; Fleming, Kandace K.; Warren, Steven F.

2016-01-01

Purpose In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method Participants were 28 children with FXS (24 boys, four girls) and their mothers. Videotaped home observations were conducted during the toddler period and coded for JE. Language abilities were measured at both ages from a developmental assessment, a functional measure, and from a language sample. The Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) was completed at both ages. Results Children with FXS spent more time in supported JE than in coordinated JE. Using a weighted JE variable, we found that children with FXS who had higher weighted JE scores also had more advanced expressive language skills at both the toddler and child periods. Weighted JE was negatively related to autism symptomatology in the toddler period. Conclusion This study provides evidence that children with FXS who use more JE also have more advanced expressive language skills in early development. Therefore, existing early interventions that target JE behaviors may be effective for promoting language, social communication, and social interaction in this population. PMID:27681878

Joint Moment-Angle Properties of the Hip Extensors in Subjects With and Without Patellofemoral Pain.

PubMed

Kindel, Curtis; Challis, John

2018-04-01

Strength deficits of hip extension in individuals with patellofemoral syndrome are commonly reported in literature. No literature to date has examined these deficits with variable positions of the knee and hip; altering knee angle alters the length and therefore potentially the force produced by the biarticular muscles. Beyond strength, neuromuscular control can also be assessed through the analysis of isometric joint moment steadiness. Subjects consisted of a group of individuals with patellofemoral syndrome (n = 9), and a group of age- and size-matched controls with no symptoms (n = 9). Maximum isometric joint moments for hip extension were measured at 4 points within the joint's range of motion, at 2 different knee positions (0° and 90°) for each group. The joint moment signals were analyzed by computing signal Coefficient of Variation (CV). The results indicate that no significant differences were found between the groups of subjects for the hip extension moments when the knee was extended. However, there was a significant difference between the groups for the joint moments of hip extension with the knee flexed at all 4 hip positions. Results also showed hip extension CV values to be significantly higher in the patellofemoral group compared with the control group, indicating greater signal noise and therefore poorer neuromuscular control of the hip extensor musculature. This study demonstrated that individuals with patellofemoral syndrome have reduced hip extension strength and reduced neuromuscular control with the knee flexed compared with a control group. These results have implications for the etiology of patellofemoral syndrome and its rehabilitation.

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.

Lumbar Facet Joint Motion in Patients with Degenerative Disc Disease at Affected and Adjacent Levels

PubMed Central

Li, Weishi; Wang, Shaobai; Xia, Qun; Passias, Peter; Kozanek, Michal; Wood, Kirkham; Li, Guoan

2013-01-01

healthy participants. Conclusion DDD alters the ROMs of the facet joints. The rotations can increase significantly not only at the DDD levels but also at their adjacent levels when compared to those of the healthy participants. The increase in rotations did not occur around the primary rotation axis of the torso motion but around the coupled axes. This hypermobility in coupled rotations might imply a biomechanical mechanism related to DDD. PMID:21270686

[Diagnostic test scale SI5: Assessment of sacroiliac joint dysfunction].

PubMed

Acevedo González, Juan C; Quintero Oliveros, Silvia

2015-01-01

Sacroiliac joint dysfunction is a known cause of low back pain. We think that a diagnostic score scale (SI5) may be performed to assess diagnostic utility of clinical signs of sacroiliac joint dysfunction. The primary aim of the present study was to conduct the pilot study of our new diagnostic score scale, the SI5, for sacroiliac joint syndrome. We reviewed the literature on clinical characteristics, diagnostic tests and imaging most commonly used in diagnosing sacroiliac joint dysfunction. Our group evaluated the diagnostic utility of these aspects and we used those considered most representative to develop the SI5 diagnostic scale. The SI5 scale was applied to 22 patients with low back pain; afterwards, the standard test for diagnosing this pathology (selective blockage of the SI joint) was also performed on these patients. The sensitivity and specificity for each sign were also assessed and the diagnostic scale called SI5 was then proposed, based on these data. The most sensitive clinical tests for diagnosing SI joint dysfunction were 2 patient-reported clinical characteristics, the Laguerre Test, sacroiliac rocking test and Yeomans test (greater than 80% sensitivity). The tests with greatest diagnostic specificity (>80%) were the Lewitt test, Piedallu test and Gillet test. The proposed SI5 test score scale showed sensitivity of 73% and specificity of 71%. Sacroiliac joint syndrome has been shown to produce low back pain frequently; however, the diagnostic value of examination tests for sacroiliac joint pain has been questioned by other authors. The pilot study on the SI5 diagnostic score scale showed good sensitivity and specificity. However, the process of statistical validation of the SI5 needs to be continued. Copyright © 2014 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Headache in Behçet's syndrome: review of literature and NYU Behçet's syndrome center experience.

PubMed

Vishwanath, Vijay; Wong, Ericka; Crystal, Sara C; Robbins, Matthew S; Filopoulos, Maria; Lipton, Richard B; Yazici, Yusuf; Kister, Ilya

2014-09-01

Headache, a common and disabling symptom in Behçet's syndrome, may be associated with a variety of neurologic syndromes and ocular inflammation, or may present as an isolated feature. Our objective is to describe the various neurologic and ocular syndromes of Behçet's syndrome of which headache is a symptom, and to review the features of isolated headaches in Behçet's. We also report results of a study of headache in Behçet's syndrome patients who are followed at NYU Hospital for Joint Diseases, the first study of its kind in North American patients, and the first to document prevalence of both episodic and chronic daily headache in Behçet's.

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

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.

Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).

PubMed

Boles, R G; Teebi, A S; Schwartz, D; Harper, J F

1994-07-01

Two daughters of phenotypically normal parents are described with severe proportional dwarfism with microcephaly, peculiar craniofacial anomalies, microtia, absent patellae, joint hyperextensibility, and other anomalies. Intrafamilial variability is minimal. This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, Short stature syndrome (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and growth retardation. Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio.

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.

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

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.

Burnout syndrome prevalence in physiotherapists.

PubMed

González-Sánchez, Blanca; López-Arza, María Victoria González; Montanero-Fernández, Jesús; Varela-Donoso, Enrique; Rodríguez-Mansilla, Juan; Mingote-Adán, José Carlos

2017-04-01

To evaluate burnout syndrome in its three aspects, jointly as well as independently, in physiotherapists from the Extremadura region (Spain). Analytic descriptive epidemiological transversal trial in primary care and institutional practice, with physiotherapists practicing in Extremadura who met the inclusion criteria, after having signed an informed consent form. Emotional exhaustion, depersonalization and low professional accomplishment were the outcomes measured. Physiotherapists from Extremadura show a 65.23 point level of burnout syndrome, according to the Maslach Burnout Inventory questionnaire. Therefore, they are positioned in the middle of the rating scale for the syndrome, and very near to the high level at starting score of 66 points. Physiotherapists in Extremadura present moderate scores for the three dimensions of burnout syndrome, namely, emotional exhaustion, depersonalization and low professional accomplishment. For this reason, they are in the moderate level of the syndrome and very near to the high level, which starts at a score of 66 points. No relation between burnout syndrome and age has been found in our study.

[Secondary impingement syndrome in athletes].

PubMed

Jerosch, J; Castro, W H; Sons, H U

1990-12-01

Dysfunction of the shoulder joint is based not only on anatomic conditions. The consideration of the special kinesiology of the shoulder helps to understand the shoulder pathology. This mainly applies to young "overhead athletes" like swimmers, handball-, basketball-, volleyball-, and racketplayers. These disciplines cause stress on the anterior joint structures (capsule, ligaments, labrum, subscapularis tendon) and lead to anterior instability. This includes anterior subluxation or even dislocation. Finally, an impingement syndrome with the typical symptoms can frequently result from these conditions. The impingement-syndrome of the elderly must be considered as a primary disease, whereas the young overhead athlete suffers from the impingement syndrome as a secondary disease and does not take the first place in therapy. The first step in therapy should to be treat the muscular imbalance of the shoulder. To gain a regular pattern of motion the rotator cuff must be strengthened. This regimen is likely to be successful in 80-90% of the cases. If the conservative therapy fails the surgical treatment may come into consideration. Arthroscopic surgery has the advantage not to affect the proprioceptivity. To retain the previous level of performance an adequate rehabilitation programme is essential for the athlete.

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

PubMed

Lah, Melissa; Niranjan, Tejasvi; Srikanth, Sujata; Holloway, Lynda; Schwartz, Charles E; Wang, Tao; Weaver, David D

2016-04-01

We further evaluated a previously reported family with an apparently undescribed X-linked syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones to elucidate the genetic cause. To do this, we obtained medical histories and performed physical examination on 14 individuals in the family, five of whom are affected males and three are obligate carrier females. Linkage analysis was performed on all but one individual and chromosome X-exome sequencing was done on two affected males. The analysis localized the putative gene to Xq27-qter and chromosome X-exome sequencing revealed a mutation in exon 28 (c.4726G>A) of the filamin A (FLNA) gene, predicting that a conserved glycine had been replaced by arginine at amino acid 1576 (p.G1576R). Segregation analysis demonstrated that all known carrier females tested were heterozygous (G/A), all affected males were hemizygous for the mutation (A allele) and all normal males were hemizygous for the normal G allele. The data and the bioinformatic analysis indicate that the G1576R mutation in the FLNA gene is very likely pathogenic in this family. The syndrome affecting the family shares phenotypic overlap with other syndromes caused by FLNA mutations, but appears to be a distinct phenotype, likely representing a unique genetic syndrome. © 2016 Wiley Periodicals, Inc.

Joint Distraction Treatments of Intra-Articular Fracture-Induced Posttraumatic Osteoarthritis in a Large Animal Model

DTIC Science & Technology

2016-10-01

acute joint distraction treatment suffered some complications and did not appear to improve cartilage health when applied at this acute phase. We have...immature animals from their herd as a result of PRRS (porcine respiratory and reproduction syndrome ). This forced purchase of animals from alternative more...joint distraction applied acutely after IAF are the focus of Aim 1, and the effects of joint distraction applied shortly after the bone has healed are

Lemierre's syndrome (necrobacillosis)

PubMed Central

Golpe, R.; Marin, B.; Alonso, M.

1999-01-01

Lemierre's syndrome or postanginal septicaemia (necrobacillosis) is caused by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections. Fusobacterium necrophorum is the most common pathogen isolated from the patients. The interval between the oropharyngeal infection and the onset of the septicaemia is usually short. The most common sites of septic embolisms are the lungs and joints, and other locations can be affected. A high degree of clinical suspicion is needed to diagnose the syndrome. Computed tomography of the neck with contrast is the most useful study to detect internal jugular vein thrombosis. Treatment includes intravenous antibiotic therapy and drainage of septic foci. The role of anticoagulation is controversial. Ligation or excision of the internal jugular vein may be needed in some cases.


Keywords: Lemierre's syndrome; Fusobacterium necrophorum; necrobacillosis; septicaemia; oropharynx PMID:10448489

Preoperative Optimization of Total Joint Arthroplasty Surgical Risk: Obesity.

PubMed

Fournier, Matthew N; Hallock, Justin; Mihalko, William M

2016-08-01

Obesity is a problem that is increasing in prevalence in the United States and in other countries, and it is a common comorbidity in patients seeking total joint arthroplasty for degenerative musculoskeletal diseases. Obesity, as well as commonly associated comorbidities such as diabetes mellitus, cardiovascular disease, and those contributing to the diagnosis of metabolic syndrome, have been shown to have detrimental effects on total joint arthroplasty outcomes. Although there are effective surgical and nonsurgical interventions which can result in weight loss in these patients, concomitant benefit on arthroplasty outcomes is not clear. Preoperative optimization of surgical risk in obese total joint arthroplasty patients is an important point of intervention to improve arthroplasty outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

Dutch Multidisciplinary Guideline for Invasive Treatment of Pain Syndromes of the Lumbosacral Spine.

PubMed

Itz, Coen J; Willems, Paul C; Zeilstra, Dick J; Huygen, Frank J

2016-01-01

When conservative therapies such as pain medication or exercise therapy fail, invasive treatment may be indicated for patients with lumbosacral spinal pain. The Dutch Society of Anesthesiologists, in collaboration with the Dutch Orthopedic Association and the Dutch Neurosurgical Society, has taken the initiative to develop the guideline "Spinal low back pain," which describes the evidence regarding diagnostics and invasive treatment of the most common spinal low back pain syndromes, that is, facet joint pain, sacroiliac joint pain, coccygodynia, pain originating from the intervertebral disk, and failed back surgery syndrome. The aim of the guideline is to determine which invasive treatment intervention is preferred for each included pain syndrome when conservative treatment has failed. Diagnostic studies were evaluated using the EBRO criteria, and studies on therapies were evaluated with the Grading of Recommendations Assessment, Development and Evaluation system. For the evaluation of invasive treatment options, the guideline committee decided that the outcome measures of pain, function, and quality of life were most important. The definition, epidemiology, pathophysiological mechanism, diagnostics, and recommendations for invasive therapy for each of the spinal back pain syndromes are reported. The guideline committee concluded that the categorization of low back pain into merely specific or nonspecific gives insufficient insight into the low back pain problem and does not adequately reflect which therapy is effective for the underlying disorder of a pain syndrome. Based on the guideline "Spinal low back pain," facet joint pain, pain of the sacroiliac joint, and disk pain will be part of a planned nationwide cost-effectiveness study. © 2015 World Institute of Pain.

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.

Ankle impingement syndromes: an imaging review

PubMed Central

Tafur, Monica; Ahmed, Sonya S; Huang, Brady K; Chang, Eric Y

2017-01-01

Ankle impingement syndromes encompass a broad spectrum of post-traumatic and chronic degenerative changes that present with pain on specific movements about the ankle joint. Both amateur and professional athletes are disproportionately affected by these conditions, and while conservative measures can potentially treat an impingement syndrome, definitive therapy is often alleviated surgically. Imaging (including conventional radiography, ultrasound, CT and MRI) plays an invaluable role in the diagnosis and pre-surgical work-up. An anatomically based classification system is useful in these syndromes, as the aetiology, sites of pathology and preferred treatment methods are similarly based on anatomic locations about the ankle. This review focuses on the anatomic locations, pathophysiology, imaging considerations and brief discussion of therapies for each of the major anatomic ankle impingement syndromes. PMID:27885856

Brachygnathia superior and degenerative joint disease: a new lethal syndrome in Angus calves.

PubMed

Jayo, M; Leipold, H W; Dennis, S M; Eldridge, F E

1987-03-01

Brachygnathia superior and generalized diarthrodial degenerative joint disease were seen in 17 related, purebred Angus calves ranging in age from 2 days to 4 months. Craniometrical studies revealed decreased maxillary and palatine bone lengths and increased cranial, skull, and facial indices. Radiological evaluation of major appendicular joints demonstrated lipping of the joint margins with osteophyte formation, sclerosis of subchondral bone, and narrowing of joint spaces. Synovial fluid evaluation indicated joint degeneration but no etiologic agent. Rheumatoid factor analysis of plasma was negative. Grossly, all major appendicular joints were defective including the atlanto-occipital articulation. Lesions ranged from loss of surface luster to erosions and deep ulcers with eburnation of the subchondral bone and secondary proliferative synovitis. Histological changes were degeneration of the articular cartilage matrix, chondrocyte necrosis, flaking and fibrillation, chondrone formation, erosions and ulcers of the articular cartilage with subchondral bone sclerosis, vascular invasion with fibrosis, and chronic, nonsuppurative, proliferative synovitis. Growth plates had defective chondrocyte proliferation and hypertrophy with aberrant ossification of calcified cartilaginous matrix. Histochemical analysis of cartilage and bone failed to incriminate which component was defective, glycosaminoglycan or collagen, but indicated different distribution or absence of one or the other. Genealogic studies revealed a genetic basis for the new defect.

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.

Association of Vogt Koyanagi Harada Syndrome and Seronegative Rheumatoid Arthritis.

PubMed

Aydin, Teoman; Taspinar, Ozgur; Guneser, Meryem; Keskin, Yasar

2016-03-01

Vogt Koyanagi Harada (VKH) Syndrome is a rarely-seen multi-systemic, autoimmune and inflammatory disease. It observed frequently with neurologic, auditory and skin manifestations and characterized with bilateral, chronic and diffused granulomatous panuveitis. It generally affects women in young-adult period. A 57 year-old female patient applied to a special center one year ago with a complaint of decrease in the sight acuity of the right eye. The right eye was operated on with cataract diagnosis. Uveitis was developed firstly in the right eye and then in the left eye after the operation. Having complaints about uveitis, tinnitus and hear loss, the patient was diagnosed with VKH syndrome. The pains started to be felt in small hand joints and both of the two ankles. The pains were increasing especially in the mornings and during rest. The duration of morning stiffness was two hours in hand and foot joints. The patient had had lumbar pain with mechanic characteristic for five years. Being diagnosed with seronegative rheumatoid arthritis (RA), our case is presented because VKH syndrome is rarely seen in Turkey, and the joint findings are at the forefront.

Posterior impingement syndromes of the ankle.

PubMed

Lee, Justin C; Calder, James D F; Healy, Jeremiah C

2008-06-01

Acute, or repetitive, compression of the posterior structures of the ankle may lead to posterior ankle impingement (PAI) syndrome, posteromedial ankle impingement (PoMI) syndrome, or Haglund's syndrome. The etiology of each of these conditions is quite different. Variations in posterior ankle osseous and soft tissue anatomy contribute to the etiology of PAI and Haglund's syndromes. The presence of an os trigonum or Stieda process is classically associated with PAI syndrome, whereas a prominent posterosuperior tubercle of the os calcis or Haglund's deformity is the osseous predisposing factor in Haglund's syndrome. PoMI has no defined predisposing anatomical variants but typically follows an inversion-supination injury of the ankle joint. This article discusses the biomechanics, clinical features, imaging, and management of each of these conditions. Magnetic resonance imaging (MRI) provides the optimal tool in posterior ankle assessment, and this review focuses on the MRI findings of each of the conditions just listed.

Dorsal dimelia in patau syndrome: a case report.

PubMed

Fattah, A; Pickford, M A

2007-10-01

We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges.

[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.

Anterior ankle impingement syndromes.

PubMed

Umans, Hilary R; Cerezal, Luiz

2008-06-01

Ankle impingement syndromes are painful conditions that may complicate ankle trauma and are characterized by chronic, progressive pain, swelling, and limitation of movement. These disorders are subclassified according to anatomical location about the tibiotalar joint. This article reviews the various forms of anterior ankle impingement, detailing the unique clinical features, anatomical considerations, pathoetiology, and imaging findings for each.

Joint Source-Channel Coding by Means of an Oversampled Filter Bank Code

NASA Astrophysics Data System (ADS)

Marinkovic, Slavica; Guillemot, Christine

2006-12-01

Quantized frame expansions based on block transforms and oversampled filter banks (OFBs) have been considered recently as joint source-channel codes (JSCCs) for erasure and error-resilient signal transmission over noisy channels. In this paper, we consider a coding chain involving an OFB-based signal decomposition followed by scalar quantization and a variable-length code (VLC) or a fixed-length code (FLC). This paper first examines the problem of channel error localization and correction in quantized OFB signal expansions. The error localization problem is treated as an[InlineEquation not available: see fulltext.]-ary hypothesis testing problem. The likelihood values are derived from the joint pdf of the syndrome vectors under various hypotheses of impulse noise positions, and in a number of consecutive windows of the received samples. The error amplitudes are then estimated by solving the syndrome equations in the least-square sense. The message signal is reconstructed from the corrected received signal by a pseudoinverse receiver. We then improve the error localization procedure by introducing a per-symbol reliability information in the hypothesis testing procedure of the OFB syndrome decoder. The per-symbol reliability information is produced by the soft-input soft-output (SISO) VLC/FLC decoders. This leads to the design of an iterative algorithm for joint decoding of an FLC and an OFB code. The performance of the algorithms developed is evaluated in a wavelet-based image coding system.

[Hyperimmunoglobulin D syndrome].

PubMed

Drenth, J P; Denecker, N E; Prieur, A M; Van der Meer, J W

1995-09-16

The hyper-IgD syndrome is a rare entity characterized by early onset of attacks of periodic fever. All patients have an elevated serum IgD (> 100 U/ml). Symptoms during attacks include joint involvements (arthralgias/arthritis), abdominal complaints (vomiting, pain, diarrhoea), skin lesions, swollen lymph nodes, and headache. In 1992 an International hyper-IgD study group was established, and to date the diagnosis has been made in 60, mainly European patients; 14 come from France. The disorder occurs in families and is transmitted by autosomal recessive inheritance. Linkage studies indicate that the gene encoding for familial Mediterranean fever is different from the gene for the hyper-IgD syndrome. In children the hyper-IgD syndrome should be distinguished from two other periodic febrile disorders. CINCA (chronic inflammatory, neurological, cutaneous and articular syndrome) and FAPA (periodic fever, adenopathies, pharyngitis, and aphtous stomatitis) share some symptoms with the hyper-IgD syndrome but in these syndromes serum IgD is normal. The pathogenesis remains to be elucidated but during attacks all patients have an acute-phase response with elevated C-reactive protein concentrations. During the febrile episodes, the inflammatory cytokines such as IL-6 TNF alpha, IFN gamma are increased together with natural occurring inhibitors such as IL-1ra and sTNFr. There is no therapy for the syndrome and patients will experience attacks during their entire life although frequency and severity tend to diminish with age.

[3M syndrome: case history].

PubMed

Fehlow, P

2006-01-01

This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome. A striking mentally retarded (I. Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the 3M syndrome (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones. Furthermore there was a dent temporal at the left. But this feature is found on many other syndromes with nanosomia frontotemporal, less frequent the low position of the navel on these patients. The karyotype was normal, the case apparently sporadic. MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible.

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

[Study on the effect of vertebrae semi-dislocation on the stress distribution in facet joint and interuertebral disc of patients with cervical syndrome based on the three dimensional finite element model].

PubMed

Zhang, Ming-cai; Lü, Si-zhe; Cheng, Ying-wu; Gu, Li-xu; Zhan, Hong-sheng; Shi, Yin-yu; Wang, Xiang; Huang, Shi-rong

2011-02-01

To study the effect of vertebrae semi-dislocation on the stress distribution in facet joint and interuertebral disc of patients with cervical syndrome using three dimensional finite element model. A patient with cervical spondylosis was randomly chosen, who was male, 28 years old, and diagnosed as cervical vertebra semidislocation by dynamic and static palpation and X-ray, and scanned from C(1) to C(7) by 0.75 mm slice thickness of CT. Based on the CT data, the software was used to construct the three dimensional finite element model of cervical vertebra semidislocation (C(4)-C(6)). Based on the model,virtual manipulation was used to correct the vertebra semidislocation by the software, and the stress distribution was analyzed. The result of finite element analysis showed that the stress distribution of C(5-6) facet joint and intervertebral disc changed after virtual manipulation. The vertebra semidislocation leads to the abnormal stress distribution of facet joint and intervertebral disc.

Effect of facet joint injection versus systemic steroids in low back pain: a randomized controlled trial.

PubMed

Ribeiro, Luiza Helena; Furtado, Rita Nely Vilar; Konai, Monique Sayuri; Andreo, Ana Beatriz; Rosenfeld, Andre; Natour, Jamil

2013-11-01

Randomized clinical trial. To compare the effectiveness of facet joint injection versus systemic steroid in patients with a diagnosis of facet joint syndrome. The term facet joint syndrome has been used to define back pain originating from the facet joints. Treatment is mainly conservative, although interventions, including intra-articular injections and medial branch nerve blocks are used to manage facet-mediated pain. Several studies have evaluated the effectiveness of these interventions. Results of facet joint injection, however, are conflicting. Sixty subjects with a diagnosis of facet joint syndrome were enrolled in the study. They were randomized into experimental and control groups. The experimental group was administered with intra-articular injection of 6 lumbar facet joints with triamcinolone hexacetonide; the control group was administered with triamcinolone acetonide intramuscular injection of 6 lumbar paravertebral points. Visits were taken at baseline and at 1, 4, 12, and 24 weeks after interventions. Outcome measures were used: pain visual analogue scale, pain visual analogue scale during extension of the spine, Likert scale, improvement percentage scale, Roland-Morris, 36-Item Short Form Health Survey, and accountability of medications taken.Homogeneity was tested using the Student t, Pearson χ, and Mann-Whitney tests. Analysis of variance was used to analyze differences in the groups over time and the Student t test to analyze differences between groups at each time evaluation. The groups were similar at baseline. Comparisons between the groups showed, in analysis of variance analysis, an improvement in the experimental group regarding diclofenac intake and quality of life, in the "role physical" profile, assessed by 36-Item Short Form Health Survey.In the analysis at each time point, an improvement in the experimental group was also found in the Roland-Morris questionnaire, in the improvement percentage scale and in the response to treatment

Anserine syndrome.

PubMed

Helfenstein, Milton; Kuromoto, Jorge

2010-01-01

Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

The SAPHO syndrome: a clinical and imaging study.

PubMed

Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

2011-02-01

The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

Magnetic resonance imaging in assessment of stress urinary incontinence in women: Parameters differentiating urethral hypermobility and intrinsic sphincter deficiency.

PubMed

Macura, Katarzyna Jadwiga; Thompson, Richard Eugene; Bluemke, David Alan; Genadry, Rene

2015-11-28

To define the magnetic resonance imaging (MRI) parameters differentiating urethral hypermobility (UH) and intrinsic sphincter deficiency (ISD) in women with stress urinary incontinence (SUI). The static and dynamic MR images of 21 patients with SUI were correlated to urodynamic (UD) findings and compared to those of 10 continent controls. For the assessment of the urethra and integrity of the urethral support structures, we applied the high-resolution endocavitary MRI, such as intraurethral MRI, endovaginal or endorectal MRI. For the functional imaging of the urethral support, we performed dynamic MRI with the pelvic phased array coil. We assessed the following MRI parameters in both the patient and the volunteer groups: (1) urethral angle; (2) bladder neck descent; (3) status of the periurethral ligaments, (4) vaginal shape; (5) urethral sphincter integrity, length and muscle thickness at mid urethra; (6) bladder neck funneling; (7) status of the puborectalis muscle; (8) pubo-vaginal distance. UDs parameters were assessed in the patient study group as follows: (1) urethral mobility angle on Q-tip test; (2) Valsalva leak point pressure (VLPP) measured at 250 cc bladder volume; and (3) maximum urethral closure pressure (MUCP). The UH type of SUI was defined with the Q-tip test angle over 30 degrees, and VLPP pressure over 60 cm H2O. The ISD incontinence was defined with MUCP pressure below 20 cm H2O, and VLPP pressure less or equal to 60 cm H2O. We considered the associations between the MRI and clinical data and UDs using a variety of statistical tools to include linear regression, multivariate logistic regression and receiver operating characteristic (ROC) analysis. All statistical analyses were performed using STATA version 9.0 (StataCorp LP, College Station, TX). In the incontinent group, 52% have history of vaginal delivery trauma as compared to none in control group (P < 0.001). There was no difference between the continent volunteers and incontinent patients

Magnetic resonance imaging in assessment of stress urinary incontinence in women: Parameters differentiating urethral hypermobility and intrinsic sphincter deficiency

PubMed Central

Macura, Katarzyna Jadwiga; Thompson, Richard Eugene; Bluemke, David Alan; Genadry, Rene

2015-01-01

AIM: To define the magnetic resonance imaging (MRI) parameters differentiating urethral hypermobility (UH) and intrinsic sphincter deficiency (ISD) in women with stress urinary incontinence (SUI). METHODS: The static and dynamic MR images of 21 patients with SUI were correlated to urodynamic (UD) findings and compared to those of 10 continent controls. For the assessment of the urethra and integrity of the urethral support structures, we applied the high-resolution endocavitary MRI, such as intraurethral MRI, endovaginal or endorectal MRI. For the functional imaging of the urethral support, we performed dynamic MRI with the pelvic phased array coil. We assessed the following MRI parameters in both the patient and the volunteer groups: (1) urethral angle; (2) bladder neck descent; (3) status of the periurethral ligaments, (4) vaginal shape; (5) urethral sphincter integrity, length and muscle thickness at mid urethra; (6) bladder neck funneling; (7) status of the puborectalis muscle; (8) pubo-vaginal distance. UDs parameters were assessed in the patient study group as follows: (1) urethral mobility angle on Q-tip test; (2) Valsalva leak point pressure (VLPP) measured at 250 cc bladder volume; and (3) maximum urethral closure pressure (MUCP). The UH type of SUI was defined with the Q-tip test angle over 30 degrees, and VLPP pressure over 60 cm H2O. The ISD incontinence was defined with MUCP pressure below 20 cm H2O, and VLPP pressure less or equal to 60 cm H2O. We considered the associations between the MRI and clinical data and UDs using a variety of statistical tools to include linear regression, multivariate logistic regression and receiver operating characteristic (ROC) analysis. All statistical analyses were performed using STATA version 9.0 (StataCorp LP, College Station, TX). RESULTS: In the incontinent group, 52% have history of vaginal delivery trauma as compared to none in control group (P < 0.001). There was no difference between the continent volunteers

Controlling joint pain in older people.

PubMed

Paisley, Peter; Serpell, Mick

2016-01-01

Jont pain in oldder people The prevalence of chronic pain in older people in the community ranges from 25 to 76% and for those in residential care, it is even higher at 83 to 93%. The most common sites affected are the back, hip, or knee, and other joints. There is increased reporting of pain in women (79%) compared with men (53%). Common conditions include osteoarthritis and, to a lesser extent, the inflammatory arthropathies such as rheumatoid arthritis. The differential diagnosis includes non-articular pain such as vascular limb pain and nocturnal cramp, some neuropathic pain conditions (such as compressive neuropathies and postherpetic neuralgia), soft tissue disorders such as fibromyalgia and myofascial pain syndromes. In addition to an assessment of pain intensity, a biopsychosocial model should be adopted to ascertain the effect of the pain on the patient's degree of background pain at rest. The disease is often localised to the large load-bearing joints, predominantly the hips and knees. In contrast to osteoarthritis, the inflammatory arthritides typically present with symmetrical swollen, stiff, and painful small joints of the hands and feet, usually worse in the morning.

The lumbar facet arthrosis syndrome. Clinical presentation and articular surface changes.

PubMed

Eisenstein, S M; Parry, C R

1987-01-01

We describe a lumbar facet syndrome in which disabling symptoms are associated with normal or near-normal plain radiographs. Local spinal fusion relieved symptoms in 12 patients; the excised facet joint surfaces showed some of the histological changes seen in chondromalacia patellae and in osteoarthritis of other large joints. The most frequent change was focal full-thickness cartilage necrosis or loss of cartilage with exposure of subchondral bone, but osteophyte formation was remarkably absent in all specimens. We suggest that there are both clinical and histological similarities between the facet arthrosis syndrome and chondromalacia patellae. Facet arthrosis may be a relatively important cause of intractable back pain in young and middle-aged adults.

[EFFECTIVENESS OF ARTHROSCOPY FOR ANKLE IMPINGEMENT SYNDROME].

PubMed

Han, Guansheng; Xu, Bin; Geng, Chunhui; Cheng, Xinde

2014-06-01

To explore the effectiveness of arthroscopy for ankle impingement syndrome. Between March 2009 and April 2013, 30 patients with ankle impingement syndrome were treated. Among them, there were 22 males and 8 females with an average age of 28.6 years (range, 16-55 years). Twenty-six patients had a history of obvious ankle sprains. The disease duration was 6-62 months (mean, 21.5 months). All cases had ankle pain, limitation of activity, and positive results of ankle impact test. According to Meislin scoring criteria, 5 cases were rated as good, 8 cases as medium, and 17 cases as poor; the excellent and good rate was 16.7%. American Orthopedic Foot and Ankle Society (AOFAS) score was 43.3 ± 5.1. Visual analogue scale (VAS) score was 6.7 ± 2.3. Preoperative X-ray film showed ankle loose bodies and hyperplasia osteophyte in 6 cases, and lateral malleolus old avulsion fracture in 4 cases. MRI showed soft tissue in the ankle joint in the 17 cases, and articular cartilage injury of tibiotalar joint and bone marrow edema in 7 cases. The location, degree, and organization of the impact were observed under arthroscopy. The joint debridement, removal of loose body and osteophyte, plasty of articular cartilage, and plasma radiofrequency ablation of lateral and medial ligaments were performed. All incisions healed primarily. No infection of skin and joint, or neurological and vascular injury was found. All patients were followed up 6-32 months (mean, 19.5 months). According to Meislin scoring criteria at last follow-up, 16 cases were rated as excellent, 11 cases as good, and 3 cases as medium; the excellent and good rate was 90.0%, showing significant difference when compared with preoperative value (Z = 6.045, P = 0.000). AOFAS score was 89.8 ± 4.3, showing significant difference when compared with preoperative score (t = 38.180, P = 0.000). VAS score was 2.8 ± 1.6, showing significant difference when compared with preoperative score (t = 7.624, P = 0.000). A clear

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.

Cryopyrin-associated periodic syndromes: diagnosis and management.

PubMed

Miyamae, Takako

2012-04-01

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory disorders; many cases of CAPS are caused by mutations in the NLRP3 gene. In these conditions, interleukin (IL)-1 is overproduced, and this overproduction plays a major role in disease onset and progression. CAPS include three variants, ranging in order of increasing severity from familial cold autoinflammatory syndrome, previously termed familial cold urticaria, through Muckle-Wells syndrome, to chronic infantile neurologic cutaneous articular syndrome, also known as neonatal onset multisystemic inflammatory disease. Diagnosis of CAPS is initially based on clinical manifestations and medical history, and later confirmed genetically. CAPS should be suspected when characteristic skin lesions, typical periodic fever episodes, bone/joint manifestations, and CNS involvement are recognized. CAPS are life-long diseases, and early diagnosis and early treatment with IL-1-targeted therapies may improve prognosis.

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome

PubMed Central

Kobak, Şenol; Yalçin, Murat; Karadeniz, Muamer; Oncel, Guray

2013-01-01

Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints. PMID:23762731

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome.

PubMed

Kobak, Senol; Yalçin, Murat; Karadeniz, Muamer; Oncel, Guray

2013-01-01

Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints.

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

PubMed

Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

2006-08-01

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

PubMed Central

Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, S.

2006-01-01

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development. PMID:16826533

Monogenic Auto-inflammatory Syndromes: A Review of the Literature.

PubMed

Azizi, Gholamreza; Khadem Azarian, Shahin; Nazeri, Sepideh; Mosayebian, Ali; Ghiasy, Saleh; Sadri, Ghazal; Mohebi, Ali; Khan Nazer, Nikoo Hossein; Afraei, Sanaz; Mirshafiey, Abbas

2016-12-01

Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T cells, and an inborn error of innate immunity. A narrative literature review was carried out of studies related to auto-inflammatory syndromes to discuss the pathogenesis and clinical manifestation of these syndromes. This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA). The data suggest that correct diagnosis and treatment of monogenic auto-inflammatory diseases relies on the physicians' awareness. Therefore, understanding of the underlying pathogenic mechanisms of auto-inflammatory syndromes, and especially the fact that these disorders are mediated by IL-1 secretion stimulated by monocytes and macrophages, facilitated significant progress in patient management.

Piriformis muscle syndrome.

PubMed

Kuncewicz, Elzbieta; Gajewska, Ewa; Sobieska, Magdalena; Samborski, Włodzimierz

2006-01-01

Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms.

Progressive joint limitations as the first alarming signs in a boy with short - limbed dwarfism: A case report.

PubMed

Al Kaissi, Ali; Klaushofer, Klaus; Grill, Franz

2008-08-19

Contracture is a condition of abnormal shortening or shrinkage of a muscle, and or a tendon often with persistent flexion or distortion at a joint. Careful documentation of the kind of contractures encountered in different paediatric disorders is important in distinguishing a specific subtype. Achondroplasia has been considered as the most common short-limbed dwarfism syndrome, but there are a variety of other syndromes within this category, and other types of limb shortening. We report on a 5-year-old boy of Austrian origin who manifests progressive joint limitations in connection with a dysplastic form of short-limbed dwarfism namely chondrodysplasia punctata-tibial-metacarpal-type. Progressive joint limitations of maximal intensity over the hip, and the ankle joints were the main presenting features. Osteochondrodysplasias involve abnormal bone or cartilage growth leading to skeletal maldevelopment, often short-limbed dwarfism. Diagnosis is by physical examination, radiographic documentation, and, in some cases, genetic testing. In patients with chondrodysplasia punctata, early life radiographic examination is fundamental, since resolution of the punctate calcifications leaving abnormal epiphyses and flared and irregular metaphyses after age one to three years seems to be characteristic.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

PubMed

Sarrabay, Guillaume; Grandemange, Sylvie; Touitou, Isabelle

2015-01-01

Cryopyrin-associated periodic syndrome are rare autosomal dominantly inherited diseases. They include three overlapping phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous articular syndrome/neonatal onset multisystem autoinflammatory syndrome (NOMID/CINCA). Recurrent fevers, joint pain, and urticarial skin rash are the main clinical features of these conditions. Renal amyloidosis and sensorineural complications may occur. Gain-of-function mutations in NLRP3 gene are responsible for the overactivation of the NLRP3 inflammasome, a multimolecular complex involved in the inflammatory process. Missense mutations are almost always encountered, particularly in exon 3, which encodes the nucleotide-binding domain. Mosaicism is not rare, especially in CINCA/NOMID. Next-generation sequencing will grant access to new insights about NLRP3 implication in oligogenic and multifactorial diseases.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

PubMed

Zhou, Yaoyao; Zhang, Junfeng

2014-09-20

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

Carpal tunnel syndrome - an occupational hazard facing dentistry.

PubMed

Abichandani, Sagar; Shaikh, Saquib; Nadiger, Ramesh

2013-10-01

The authors wished to evaluate the comprehensive literature on carpal tunnel syndrome to discover work specific to carpal tunnel syndrome among dentists in order to determine whether there is any correlation with dentists having a higher prevalence of its occurrence. A review of dental literature involving carpal tunnel syndrome was undertaken. Details appearing in the literature before 1995 was reviewed in a comprehensive manner and the literature after 1995 were reviewed electronically. The prevalence of carpal tunnel syndrome is higher in dental professionals involved in various aspects of dental specialties. Abnormal postures, including muscle imbalances, muscle necrosis, trigger points, hypomobile joints, nerve compression and spinal disk herniation or degeneration may result in serious detrimental physiological changes in the body. These changes often result in pain, injury or possible neuroskeletal disorders. Dentists have an increased risk of carpal tunnel syndrome and precautions and care should be exercised to prevent detrimental irreversible changes occurring. © 2013 FDI World Dental Federation.

Functional anatomy of the distal radioulnar joint in health and disease.

PubMed

Lees, V C

2013-04-01

The distal radioulnar joint (DRUJ) is critical to the function of the forearm as a mechanical unit. This paper is concerned with the concepts and observations that have changed understanding of the function of the DRUJ, notably with respect to the biomechanics of this joint. The DRUJ has been shown to be important in acting to distribute load and removal of the ulna head leads to the biomechanical equivalent of a one-bone forearm. The soft tissues with topographical relations to the distal forearm and DRUJ have also been investigated in our experimental series with findings including the description of a clinical disorder termed subluxation-related ulna neuropathy syndrome.

Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.

PubMed

Narayanan, Ramakrishna; Chennareddy, Srinivasa

2015-01-27

Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands. 2015 BMJ Publishing Group Ltd.

Velo-facio-skeletal syndrome in a mother and daughter

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

Teebi, A.S.; Meyn, M.S.; Meyers-Seifer, C.H.

We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality are reminiscent to those in the velo-cardio-facial syndrome. High resolution banding and fluorescent in situ hybridization studiesmore » showed no evidence of 22q11 deletions. Differentiation from Aarskog syndrome and Robinow syndrome is discussed. 9 refs., 5 figs., 3 tabs.« less

The effect of sacroiliac joint mobilization on pelvic deformation and the static balance ability of female university students with si joint dysfunction.

PubMed

Son, Jeong-Hyun; Park, Gi Duck; Park, Hoo Sung

2014-06-01

[Purpose] The present study aimed to determine the effect of an 8-week program of joint mobilization on changes in pelvic obliquity and pain level in seventeen female university students aged in their 20's with sacroiliac joint dysfunction by dividing them into two groups: a joint mobilization group (MWM) and a control group. [Subjects] Seventeen subjects were selected from female university students aged in their 20's attending N University in Cheon-An City, Korea, The subjects had sacroiliac joint syndrome, but experienced no problems with daily living and had no previous experience of joint mobilization exercise. The subjects were randomly assigned to a joint mobilization group of eight and a control group of nine who performed joint mobilization exercise. [Methods] Body fat and lean body mass were measured using InBody 7.0 (Biospace, Korea). The Direct Segmental Multi-frequency Bioelectrical Impedance Analysis Method (DSM-BIA) was used for body composition measurement. A pressure footstool (Pedoscan, DIERS, Germany) and a trunk measurement system (Formetric 4D, DIERS, Germany), a 3D image processing apparatus with high resolution for vertebrae, were used to measure 3D trunk images of the vertebrae and pelvis obliquity, as well as static balance ability. [Result] The MWM group showed a significantly better Balance than the control group. In addition, the results of the left/right and the front/rear balance abilities were significantly better than those of the control group. [Conclusion] This study proved that a combination of mobilization with movement and functional training was effective in reducing pelvis malposition and pain, and improving static stability control.

Do you know this syndrome?

PubMed

Dellatorre, Gerson; Castro, Caio César Silva de

2012-01-01

The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) includes a group of findings characterized by bone lesions usually located on the anterior chest wall, often associated with skin lesions. We report the case of a 47 years old patient, with osteochondritis at costoesternal and manubrium-sternal joints, besides of palmar-plantar pustulosis. The diagnosis is predominantly clinical and there are several treatment options described in the literature.

Progressive joint limitations as the first alarming signs in a boy with short – limbed dwarfism: A case report

PubMed Central

Al Kaissi, Ali; Klaushofer, Klaus; Grill, Franz

2008-01-01

Introduction Contracture is a condition of abnormal shortening or shrinkage of a muscle, and or a tendon often with persistent flexion or distortion at a joint. Careful documentation of the kind of contractures encountered in different paediatric disorders is important in distinguishing a specific subtype. Achondroplasia has been considered as the most common short-limbed dwarfism syndrome, but there are a variety of other syndromes within this category, and other types of limb shortening. Case presentation We report on a 5-year-old boy of Austrian origin who manifests progressive joint limitations in connection with a dysplastic form of short-limbed dwarfism namely chondrodysplasia punctata-tibial-metacarpal-type. Progressive joint limitations of maximal intensity over the hip, and the ankle joints were the main presenting features. Conclusion Osteochondrodysplasias involve abnormal bone or cartilage growth leading to skeletal maldevelopment, often short-limbed dwarfism. Diagnosis is by physical examination, radiographic documentation, and, in some cases, genetic testing. In patients with chondrodysplasia punctata, early life radiographic examination is fundamental, since resolution of the punctate calcifications leaving abnormal epiphyses and flared and irregular metaphyses after age one to three years seems to be characteristic. PMID:18713450

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.

[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.

Williams Syndrome and 15q Duplication: Coincidence versus Association.

PubMed

Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

2017-01-01

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

Serum matrix metalloproteinase 3 in detecting remitting seronegative symmetrical synovitis with pitting edema syndrome: A case report.

PubMed

Kenzaka, Tsuneaki; Goda, Ken

2018-05-16

We report a case of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome in a 71-year-old woman. She referred to our hospital with finger stiffness, edema of both hands and feet, pain of bilateral shoulder, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints. Rheumatoid factor was negative, human leukocyte antigen -B7 antigen was positive. Moreover, matrix metalloproteinase 3 (MMP-3) was high. She was diagnosed with RS3PE syndrome, and treatment with prednisolone (15 mg/d) was started. One week after prednisolone treatment initiation, CRP decreased to negative, and joint pain was almost completely resolved. However, hand stiffness persisted, and MMP-3 level was still high. Thus, prednisolone dose was increased to 20 mg/d, and the stiffness resolved. Twenty days after treatment initiation, MMP-3 was normalized. MMP-3 was more indicative of RS3PE syndrome symptoms than CRP. Thus, MMP-3 seems to be more sensitive to RS3PE syndrome symptoms.

Serum matrix metalloproteinase 3 in detecting remitting seronegative symmetrical synovitis with pitting edema syndrome: A case report

PubMed Central

Kenzaka, Tsuneaki; Goda, Ken

2018-01-01

We report a case of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome in a 71-year-old woman. She referred to our hospital with finger stiffness, edema of both hands and feet, pain of bilateral shoulder, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints. Rheumatoid factor was negative, human leukocyte antigen -B7 antigen was positive. Moreover, matrix metalloproteinase 3 (MMP-3) was high. She was diagnosed with RS3PE syndrome, and treatment with prednisolone (15 mg/d) was started. One week after prednisolone treatment initiation, CRP decreased to negative, and joint pain was almost completely resolved. However, hand stiffness persisted, and MMP-3 level was still high. Thus, prednisolone dose was increased to 20 mg/d, and the stiffness resolved. Twenty days after treatment initiation, MMP-3 was normalized. MMP-3 was more indicative of RS3PE syndrome symptoms than CRP. Thus, MMP-3 seems to be more sensitive to RS3PE syndrome symptoms. PMID:29774220

Prevalence and clinical correlates of metabolic syndrome in Nigerians living with human immunodeficiency virus/acquired immunodeficiency syndrome.

PubMed

Ayodele, Olugbenga Edward; Akinboro, Adeolu Oludayo; Akinyemi, Suliat Omolola; Adepeju, Akinlawon Adetiloye; Akinremi, Oluwaseun Akinsanmi; Alao, Christiana Adeola; Popoola, Adetoun Adedayo

2012-10-01

Sub-Saharan Africa bears an inordinate burden of human immunodeficiency virus (HIV) infection/acquired immune deficiency syndrome (AIDS). Reports have shown increased prevalence of clustering of cardiovascular risk factors referred to as metabolic syndrome in treatment-naïve patients and patients on highly active antiretroviral therapy (HAART). In view of the fact that metabolic syndrome is a heterogeneous disorder with substantial variability in the prevalence and component traits within and across populations and the dearth of publications on the prevalence and clinical correlates of metabolic syndrome in people living with HIV/AIDS (PLWHA) in Nigeria, this study was carried out to determine the prevalence and clinical correlates of metabolic syndrome among an HIV-infected outpatient population using the National Cholesterol Education Adult Treatment Panel III (NCEP ATP III), the International Diabetes Federation (IDF), and the Joint Interim Statement (JIS) definitions. We also sought to determine if HAART use and CD4 count level were associated with metabolic syndrome. This cross-sectional study involved 291 (95 men, 196 women) consecutive PLWHA. Anthropometry, blood pressure, fasting plasma glucose, and lipid profile values were determined. The prevalence rates of metabolic syndrome according to the ATP III, IDF, and JIS criteria were 12.7%, 17.2%, and 21.0%, respectively. Metabolic syndrome was significantly associated with female gender (all definitions), body mass index (all definitions), increasing age, and CD4 count (IDF definition). There was no significant association between metabolic syndrome and HAART. The concordance [kappa coefficient (κ)] between the definitions of metabolic syndrome varied between 0.583 and 0.878. The prevalence of metabolic syndrome varied with the criteria used and metabolic syndrome correlates with traditional cardiovascular risk factors rather than HAART-related factors.

[Acute compartment syndrome of the lower leg after ankle joint sprain. A case report].

PubMed

Angermann, P; Hoser, C; Lutz, M; Fink, C; Seykora, P

1998-03-01

In the field of traumatology, compartment syndromes of the lower extremity are often seen after fractures and direct injuries, or after ischaemia. Other causes include over-exertion and non-traumatic causes such as acute rhabdomyolysis, drug-induced myositis and eosinophilic myositis. This paper describes the clinical and MR course of a compartment syndrome following an ankle sprain.

[The elbow joint - a diagnostic challenge : anatomy, biomechanics, and pathology].

PubMed

Schueller-Weidekamm, C; Kainberger, F

2008-12-01

The elbow is one of the most commonly injured joints in sports activities. In particular, weight lifters, golfers, tennis players, and pitchers are affected. Injuries in sports involving overhead throwing are commonly based on the pathophysiologic model of valgus extension overload syndrome. The injuries are commonly complex and demand a good knowledge of the symptoms, the exact anatomy, and the biomechanics to arrive at a precise radiologic diagnosis. The characteristic patterns of injury that occur in specific sports activities are related to a combination of increased varus or valgus and extension or flexion overload that results in tensile forces and/or compression and shear stress. Acute symptoms are frequently based on chronic degeneration of the tendons and ligamentous structures due to repetitive microtrauma from overuse syndrome.

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.

Introital ultrasonography: a comparison of women with stress incontinence due to urethral hypermobility and continent women.

PubMed

Cassadó, Jordi; Pessarrodona, Antoni; Tulleuda, Raquel; Cabero, Lluís; Valls, Marta; Quintana, Salvador; Rodríguez-Carballeira, Mónica

2006-10-01

To determine if there is a variable on introital ultrasonography (IUS) that can be used to distinguish between women with stress urinary incontinence (SUI) due to urethral hypermobility (UH) and continent women. This single-centre, prospective, blind, cohort, observational study comprised 383 women (245 continent and 138 incontinent) who were all appropriately informed volunteers selected according to the inclusion criteria. IUS with a convex probe was performed on all women; the measurement plane was standardized and coordinates were obtained at rest and on straining. Several distances were measured to determine if any provided an objective distinction between continent and incontinent women. Among all the IUS variables assessed, sliding (calculated as the difference between the distance urethra-bladder neck, U-BN, at rest and under stress) was the best for distinguishing continent and incontinent women. The receiver operating characteristic curves showed that with a threshold of 8 mm, sliding had a sensitivity of 92% and a specificity of 79.6% for detecting SUI due to UH. The distances symphysis-urethra (S-U) and U-BN at rest could also discriminate, but with lower significance. IUS is an important tool for diagnosing SUI; there are three independent variables, one dynamic (sliding) and two static (distances S-U and U-BN), that can be used to distinguish between continent women and those with SUI due to UH. Sliding is the most reliable, as it has the highest sensitivity and specificity. We think that the simplicity, low financial cost and reliability of IUS could allow it to be a routine procedure for physicians working in incontinence units.

Behçet's syndrome: facts and controversies.

PubMed

Mat, Cem; Yurdakul, Sebahattin; Sevim, Ayşegül; Özyazgan, Yılmaz; Tüzün, Yalçın

2013-01-01

Behçet's syndrome is a systemic vasculitis of small and large vessels affecting both veins and arteries. Almost all patients with Behçet's syndrome have recurrent oral aphthae, followed by genital ulcers, variable skin lesions, such as erythema nodosum and papulopustuler lesions, arthritis, uveitis, thrombophlebitis, and gastrointestinal and central nervous system involvement. Recent epidemiologic works suggest that genetic factors are more important than environmental factors in its pathogenesis. European League Against Rheumatism guidelines were recently published for the treatment of Behçet's syndrome. Although these are quite useful for the management of mucocutaneous, eye, and joint involvement, treatment of vascular, neurological, and gastrointestinal involvement are still problematic as there are no controlled studies for these manifestations. This contribution addresses the epidemiology, mucocutaneous manifestations, diagnostic criteria, and evidence-based therapies, including biologic agents. Copyright © 2013 Elsevier Inc. All rights reserved.

Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome

PubMed Central

Huber, C.E; Judex, A.G; Freyschmidt, J; Feuerbach, S; Schölmerich, J; Müller-Ladner, U

2009-01-01

The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a matter of discussion. For example it does not appear to represent reactive arthritis and HLA B27 antigen, with the latter being typically present in patients with spondyloarthopathies. Treatment of SAPHO syndrome is also not well established and consists of various antiinflammatory and antirheumatic drugs. Here, we report a female patient with active SAPHO syndrome suffering from sternal swelling of unknown origin that had been known for 10 years and a 4-year-history of severe lower back pain. Remarkable were also a typical pustulous palmar erythema associated with swelling and decreased motility of both MCP-I joints. Inflammation parameters were high with an ESR 68 mm/1st hour and a CRP of 19.6 mg/l. She was initially treated with rofecoxib and doxycycline, followed by sulfasalazine with only partial clinical response. Thereafter, both articular symptoms as well as cutaneous lesions responded well to a combination therapy with methotrexate and sulfasalazine. Thus, the case illustrates nicely that methotrexate in combination with another DMARD can be successfully applied to patients with long-term active SAPHO syndrome. PMID:19471601

Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome.

PubMed

Huber, C E; Judex, A G; Freyschmidt, J; Feuerbach, S; Schölmerich, J; Müller-Ladner, U

2009-03-27

The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a matter of discussion. For example it does not appear to represent reactive arthritis and HLA B27 antigen, with the latter being typically present in patients with spondyloarthopathies. Treatment of SAPHO syndrome is also not well established and consists of various antiinflammatory and antirheumatic drugs. Here, we report a female patient with active SAPHO syndrome suffering from sternal swelling of unknown origin that had been known for 10 years and a 4-year-history of severe lower back pain. Remarkable were also a typical pustulous palmar erythema associated with swelling and decreased motility of both MCP-I joints. Inflammation parameters were high with an ESR 68 mm/1st hour and a CRP of 19.6 mg/l. She was initially treated with rofecoxib and doxycycline, followed by sulfasalazine with only partial clinical response. Thereafter, both articular symptoms as well as cutaneous lesions responded well to a combination therapy with methotrexate and sulfasalazine. Thus, the case illustrates nicely that methotrexate in combination with another DMARD can be successfully applied to patients with long-term active SAPHO syndrome.

An Exploratory Examination of the Association Between Altered Lumbar Motor Control, Joint Mobility and Low Back Pain in Athletes

PubMed Central

Corkery, Marie B.; O’Rourke, Brittany; Viola, Samantha; Yen, Sheng-Che; Rigby, Joseph; Singer, Kevin; Thomas, Adam

2014-01-01

Background: Low back pain (LBP) is a common cause of lost playing time and can be a challenging clinical condition in competitive athletes. LBP in athletes may be associated with joint and ligamentous hypermobility and impairments in activation and coordination of the trunk musculature, however there is limited research in this area. Objectives: To determine if there is an association between altered lumbar motor control, joint mobility and low back pain (LBP) in a sample of athletes. Materials and Methods: Fifteen athletes with LBP were matched by age, gender and body mass index (BMI) with controls without LBP. Athletes completed a questionnaire with questions pertaining to demographics, activity level, medical history, need to self-manipulate their spine, pain intensity and location. Flexibility and lumbar motor control were assessed using: active and passive straight leg raise, lumbar range of motion (ROM), hip internal rotation ROM (HIR), Beighton ligamentous laxity scale, prone instability test (PIT), observation of lumbar aberrant movements, double leg lowering and Trendelenburg tests. Descriptive statistics were compiled and the chi square test was used to analyze results. Results: Descriptive statistics showed that 40% of athletes with LBP exhibited aberrant movements (AM), compared to 6% without LBP. 66% of athletes with LBP reported frequently self-manipulating their spine compared to 40% without LBP. No significant differences in motor control tests were found between groups. Athletes with LBP tended to have less lumbar flexion (63 ± 11°) compared to those without LBP (66 ± 13°). Chi-Square tests revealed that the AM were more likely to be present in athletes with LBP than those without (X2 = 4.66, P = 0.03). Conclusions: The presence of aberrant movement patterns is a significant clinical finding and associated with LBP in athletes. PMID:25741418

Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.

PubMed

Vandersteen, Anthony Martin; Kenny, Joanna; Khan, Naheed L; Male, Alison

2013-03-15

A 24-year-old Ugandan woman was referred for a neurology opinion after complaining of a year long history of right-sided retro-orbital stabbing pain. Brain imaging revealed a coincidental 3 mm left ophthalmic artery aneurysm. Marfanoid habitus was noted; after further investigations she was diagnosed with mild aortic root dilatation, subtle lens dislocation and Marfan syndrome. Her symptoms were secondary to temporomandibular joint dysfunction, an under-recognised complication of Marfan syndrome. Her ophthalmic artery aneurysm is likely to be a coincidental finding.

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE syndrome).

PubMed

Hung, S C; Kung, Y Y; Lin, H Y

1999-07-01

A 63-year-old man presented with acute symmetrical polysynovitis associated with pitting edema of both the hands and feet. He was seronegative for rheumatoid factor and no radiologically evident erosion was noted in the joints of his hands and feet. Evaluation excluded congestive heart failure, nephrotic syndrome, and hypothyroidism as the cause of edema. Treatment with nonsteroidal anti-inflammatory drugs and low-dose steroids induced complete remission. The clinical manifestations of this patients were consistent with those of a distinctive, although rare, form of arthritis called remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. This syndrome has a good prognosis in elderly patients.

Diabetes mellitus in children and adolescents with genetic syndromes.

PubMed

Schmidt, F; Kapellen, T M; Wiegand, S; Herbst, A; Wolf, J; Fröhlich-Reiterer, E E; Rabl, W; Rohrer, T R; Holl, R W

2012-11-01

Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS). Longitudinal data for 43 521 patients with DM onset at age < 20 years were collected from 309 treatment centres in Germany and Austria using the DPV software. Data included anthropometric parameters, type of diabetes, mean age, age at diabetes onset, daily insulin dose, HbA 1c , micro- and macroalbuminuria, retinopathy and dyslipidaemia. Descriptive statistics and standard statistical tests were used for data analysis. In total, 205 DM patients had one of the following syndromes: DS (141 patients), TS (24), PWS (23), FA (5), AS (5), KS (4), BBS (2) and BSS (1). Diabetes-specific antibodies were positive in the majority of patients with DS, TS and FA. Despite the well-known association between DM and certain syndromic disorders, the number of affected patients in the German and Austrian paediatric diabetic population is very low. Nevertheless, physicians should be aware of syndromic forms of diabetes. Joint multicentre analyses are needed to draw relevant conclusions. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

PubMed Central

Smith, Elisabeth J; Allantaz, Florence; Bennett, Lynda; Zhang, Dongping; Gao, Xiaochong; Wood, Geryl; Kastner, Daniel L; Punaro, Marilynn; Aksentijevich, Ivona; Pascual, Virginia; Wise, Carol A

2010-01-01

PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activation of the “inflammasome” involved in interleukin-1 (IL-1β) production. Overproduction of IL-1β is a clear molecular feature of PAPA syndrome. Ongoing research is implicating other biochemical pathways that may be relevant to the distinct pyogenic inflammation of the skin and joints characteristic of this disease. This review summarizes the recent and rapidly accumulating knowledge on these molecular aspects of PAPA syndrome and related disorders. PMID:21532836

The exploded hand syndrome: a report of five industrial injury cases.

PubMed

Al-Qattan, M M

2013-10-01

The term 'exploded hand syndrome' refers to a specific type of crush injury to the hand in which a high compressive force excessively flattens the hand leading to thenar muscle extrusion through burst lacerations. Out of 89 crushed hands seen over a period of seven years, only five had exploded hand syndrome. They were all male industrial workers ranging in age between 24 and 55 years. All patients had thenar muscle extrusion. Other concurrent injuries included fractures/dislocations, compartment syndrome, and ischaemia. All patients were treated by excision of the extruded intrinsic muscles, as well as primary management of concurrent injuries. All patients had functional assessment including: motor power and sensory testing, range of motion of hand joints, and the quick DASH score. Objective testing showed reduced sensibility in the thumb, reduced grip strength (mean 52% of contralateral hand), reduced pinch strength (mean of 27% of contralateral hand), reduced thumb opposition (the mean Kapandji Score was 5 out of 10), and deficits in the range of motion of the metacarpophalangeal and interphalangeal joints of the thumb. The quick DASH score ranged from 11 to 49 and only two patients were able to go back to regular manual work.

Minimally invasive tubular resection of the anomalous transverse process in patients with Bertolotti's syndrome: presented at the 2013 Joint Spine Section Meeting: clinical article.

PubMed

Li, Yumeng; Lubelski, Daniel; Abdullah, Kalil G; Mroz, Thomas E; Steinmetz, Michael P

2014-03-01

Bertolotti's syndrome consists of low-back pain caused by lumbosacral transitional vertebrae (LSTVs) and LSTV-associated biomechanical spinal changes. There is a lack of consensus regarding the cause, clinical significance, and treatment of this condition. The authors aim to characterize the clinical presentation of patients with Bertolotti's syndrome and describe a minimally invasive surgical treatment for this condition. Seven patients who underwent minimally invasive paramedian tubular-based resection of the LSTV for Bertolotti's syndrome were identified over the course of 5 years. Diagnosis was based on patient history of chronic low-back pain, radiographic findings of LSTV, and pain relief on trigger-site injection with steroid and/or anesthetics. Electronic medical records were reviewed to identify demographics, operative data, and outcomes. All patients presented with severe, chronic low-back pain lasting an average of 8 years that was resistant to nonoperative care. At presentation, 6 (86%) of 7 patients experienced radicular pain that was ipsilateral to the LSTV. Radiographic evidence showed a presence of LSTV in all patients on the left (43%), right (29%), or bilaterally (29%). Degenerative disc changes at the L4-5 level immediately above the anomalous LSTV were observed in 6 of 7 (86%) patients; these changes were not seen at the level below the LSTV. Following pseudo-joint injection, all patients experienced temporary relief of their symptoms. All patients underwent a minimally invasive, paramedian tubular-based approach for resection of the LSTV. Three (43%) of 7 patients reported complete resolution of low-back pain, 2 (29%) of 7 patients had reduced low-back pain, and 2 patients (29%) experienced initial relief but return of low-back pain at 1 and 4 years postoperatively. Three (50%) of the 6 patients with radicular pain had complete relief of this symptom. The median follow-up time was 12 months. No intraoperative complication was reported. Two (29

Multisegment Foot Kinematic and Kinetic Compensations in Level and Uphill Walking Following Tibiotalar Arthrodesis.

PubMed

Bruening, Dustin A; Cooney, Timothy E; Ray, Matthew S; Daut, Gregory A; Cooney, Kevin M; Galey, Stephanie M

2016-10-01

Foot and ankle movement alterations following ankle arthrodesis are still not well understood, particularly those that might contribute to the documented increase in adjacent joint arthritis. Generalized tarsal hypermobility has long been postulated, but not confirmed in gait or functional movements. The purpose of this study was to more thoroughly evaluate compensation mechanisms used by arthrodesis patients during level and uphill gait through a variety of measurement modalities and a detailed breakdown of gait phases. Level ground and uphill gait of 14 unilateral tibiotalar arthrodesis patients and 14 matched controls was analyzed using motion capture, force, and pressure measurements in conjunction with a kinetic multisegment foot model. The affected limb exhibited several marked differences compared to the controls and to the unaffected limb. In loading response, ankle eversion was reduced but without a reduction in tibial rotation. During the second rocker, ankle dorsiflexion was reduced, yet was still considerable, suggesting compensatory talar articulation (subtalar and talonavicular) motion since no differences were seen at the midtarsal joint. Also during the second rocker, subjects abnormally internally rotated the tibia while moving their center of pressure laterally. Third rocker plantarflexion motion, moments, and powers were substantially reduced on the affected side and to a lesser extent on the unaffected side. Sagittal plane hypermobility is probable during the second rocker in the talar articulations following tibiotalar fusion, but is unlikely in other midfoot joints. The normal coupling between frontal plane hindfoot motion and tibial rotation in early and mid stance was also clearly disrupted. These alterations reflect a complex compensatory movement pattern that undoubtedly affects the function of arthrodesis patients, likely alters the arthrokinematics of the talar joints (which may be a mechanism for arthritis development), and should be

Diagnostic values of different definitions of metabolic syndrome to detect poor health status in Iranian adults without diabetes.

PubMed

Amiri, P; Deihim, T; Hosseinpanah, F; Barzin, M; Hasheminia, M; Montazeri, A; Azizi, F

2014-07-01

This study aimed to compare the diagnostic impact of four definitions of the metabolic syndrome for detection of poor health status in adults without diabetes living in Tehran. A representative sample of 950 individuals (64% women), aged ≥ 20 years, participants of the Tehran Lipid and Glucose Study in 2005-2007, were recruited for the study. Health status was assessed using the Iranian version of the 36-item Short Form Health Survey. We assessed the detectability of poor health status by definitions of the National Cholesterol Education Program Adult Treatment Panel III, the International Diabetes Federation, the American Heart Association/National Heart, Lung, and the Blood Institute and the Joint Interim Statement. Compared with other definitions, the Joint Interim Statement identified more participants (46.9%) having the metabolic syndrome. Using the National Cholesterol Education Program Adult Treatment Panel III, the International Diabetes Federation and the Joint Interim Statement, the metabolic syndrome was significantly related to poor physical health status, even after adjustment for confounding variables, in women, but not in men. None of the four definitions of the metabolic syndrome was related to the mental health status in either gender. The receiver operating characteristic curves showed no significant difference in the discriminative power of the metabolic syndrome definitions in detecting poor health status in either gender. However, women showed a higher area under the curve for all definitions, in comparison with men. There was no difference in the four different definitions of the metabolic syndrome in detecting poor health status among Iranian adults. © 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.

Lumbosacral transitional vertebra causing Bertolotti's syndrome: a case report and review of the literature.

PubMed

Paraskevas, Georgios; Tzaveas, Alexandros; Koutras, Georgios; Natsis, Konstantinos

2009-07-06

Lumbosacral transitional vertebra is an anatomical variation of the fifth lumbar vertebra in which an enlarged transverse process can form a joint or fusion with the sacrum or ilium. The association of that variant with low back pain and the change in the biomechanical properties of the lumbar spine is called Bertolotti's syndrome. We report a case of a 40-year-old male patient with chronic low back pain extending to the left buttock, just above the ipsilateral sacroiliac joint. Radiographic investigation revealed an anomalous enlargement of the left transverse process of the fifth lumbar vertebra forming a pseudarthrosis with the infrajacent ala of the sacrum. In young patients with back pain the possibility of Bertolotti's syndrome should always be taken in account.

Hemizygosity at the elastin locus and clinical features of Williams syndrome

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

Morimoto, Y; Kuwano, A.; Kuwajima, K.

1994-09-01

Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient withmore » distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.« less

Bilateral widespread mechanical pain sensitivity in carpal tunnel syndrome: evidence of central processing in unilateral neuropathy.

PubMed

Fernández-de-las-Peñas, César; de la Llave-Rincón, Ana Isabel; Fernández-Carnero, Josué; Cuadrado, María Luz; Arendt-Nielsen, Lars; Pareja, Juan A

2009-06-01

The aim of this study was to investigate whether bilateral widespread pressure hypersensitivity exists in patients with unilateral carpal tunnel syndrome. A total of 20 females with carpal tunnel syndrome (aged 22-60 years), and 20 healthy matched females (aged 21-60 years old) were recruited. Pressure pain thresholds were assessed bilaterally over median, ulnar, and radial nerve trunks, the C5-C6 zygapophyseal joint, the carpal tunnel and the tibialis anterior muscle in a blinded design. The results showed that pressure pain threshold levels were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, the C5-C6 zygapophyseal joint, and the tibialis anterior muscle in patients with unilateral carpal tunnel syndrome as compared to healthy controls (all, P < 0.001). Pressure pain threshold was negatively correlated to both hand pain intensity and duration of symptoms (all, P < 0.001). Our findings revealed bilateral widespread pressure hypersensitivity in subjects with carpal tunnel syndrome, which suggest that widespread central sensitization is involved in patients with unilateral carpal tunnel syndrome. The generalized decrease in pressure pain thresholds associated with pain intensity and duration of symptoms supports a role of the peripheral drive to initiate and maintain central sensitization. Nevertheless, both central and peripheral sensitization mechanisms are probably involved at the same time in carpal tunnel syndrome.

Affinity for music in Wolf-Hirschhorn syndrome: two case reports.

PubMed

Arakawa, Chikako; Fujita, Yukihiko; Fuchigami, Tatsuo; Kawamura, Yuki; Ishii, Wakako; Endo, Ayumi; Kohira, Ryutaro; Takahashi, Shori

2014-10-01

Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, growth retardation, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication. An affinity for music has not previously been reported in these patients. We describe two patients with Wolf-Hirschhorn syndrome who both have a strong affinity for music. One patient is a 20-year-old woman who likes to listen to music all day and can hum many tunes. The other patient is a 9-year-old girl who is calmed by music and received music therapy, with subsequent improvement in her communication skills (eye contact, joint attention, and vocalizations to request music). Individuals with Wolf-Hirschhorn syndrome may have a strong affinity for music and may benefit from music therapy. Additional studies are needed to investigate the interest in music in individuals with Wolf-Hirschhorn syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

International Guidelines for the Management and Treatment of Morquio A Syndrome

PubMed Central

Hendriksz, Christian J; Berger, Kenneth I; Giugliani, Roberto; Harmatz, Paul; Kampmann, Christoph; Mackenzie, William G; Raiman, Julian; Villarreal, Martha Solano; Savarirayan, Ravi

2015-01-01

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:25346323

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome.

PubMed

Meyers, Arthur B; Awomolo, Agboola O; Szabo, Sara

2017-03-01

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.

Ehlers-Danlos syndrome in a Zimbabwean child.

PubMed

Olaosebikan, A; Wolf, B

1993-01-01

An isolated case of Ehler-Danlos syndrome, Type 1, in a two year old Zimbabwean boy is described. The patient presented with failure to thrive and inability to stand. Examination revealed hyperextensibility of the joints and skin, umbilical and inguinal hernias and a perimembranous ventricular septal defect. To the best of our knowledge this is the first pediatric case described in the African literature.

Osteomalacia as inaugural manifestation of Sjögren syndrome

PubMed Central

Cherif, Eya; Ben Hassine, Lamia; Kaoueche, Zouleikha; Khalfallah, Narjess

2013-01-01

Osteomalacia is a relatively common condition, which is frequently underdiagnosed due to lack of clinical suspicion and non-specific symptoms. Osteomalacia can complicate tubulo-interstital nephritis. However, it occurs exceptionally as the first manifestation of Sjögren syndrome with renal involvement. It is a consequence of chronic metabolic acidosis and is associated with distal renal tubular acidosis. We report a 31-year-old woman hospitalised for a 1 year history of muscle weakness and joint and chest wall pains. Skeletal imagery showed Looser’s zones in the left femoral neck. Investigations concluded to the diagnosis of primary Sjogren's syndrome. PMID:24108773

Osteomalacia as inaugural manifestation of Sjögren syndrome.

PubMed

Cherif, Eya; Ben Hassine, Lamia; Kaoueche, Zouleikha; Khalfallah, Narjess

2013-10-09

Osteomalacia is a relatively common condition, which is frequently underdiagnosed due to lack of clinical suspicion and non-specific symptoms. Osteomalacia can complicate tubulo-interstital nephritis. However, it occurs exceptionally as the first manifestation of Sjögren syndrome with renal involvement. It is a consequence of chronic metabolic acidosis and is associated with distal renal tubular acidosis. We report a 31-year-old woman hospitalised for a 1 year history of muscle weakness and joint and chest wall pains. Skeletal imagery showed Looser's zones in the left femoral neck. Investigations concluded to the diagnosis of primary Sjogren's syndrome.

Study on the relation between tissues pathologies and traditional chinese medicine syndromes in knee osteoarthritis: Medical image diagnostics by preoperative X-ray and surgical arthroscopy.

PubMed

Tian, Xiangdong; Zhu, Guangyu; Wang, Jian; Wang, Qingfu; Guan, Lei; Tan, Yetong; Xue, Zhipeng; Qin, Lina; Zhang, Jing

2016-04-07

This study aims to investigate whether integration of traditional Chinese medicine and modern medicine has advantage in achieving the improved diagnosis and treatment of knee osteoarthritis. 90 patients with knee osteoarthritis were selected from The Department of Minimal Invasive Joint of The Third Affiliated Hospital of Beijing University of Chinese Medicine from June 2013 to June 2015. They were divided into 3 groups with 30 cases per group in accordance to the syndrome differentiation of traditional Chinese medicine. The patients underwent arthroscopic surgery, and we categorized the patients having the same characterization in each group, and those having distinct difference into the three groups. Based on the arthroscopic analysis, we performed analysis of statistical data in order to analyze the relation between knee osteoarthritis under arthroscope and traditional Chinese medicine syndromes. There are three syndromes according to traditional Chinese medicine that can be categorized into various different groups. The synovial proliferation can be seen mostly in the syndrome of stagnation of blood stasis. The slight damage of knee joint cartilage can be seen in the syndrome of yang deficiency and cold stagnation, the severe one in the syndrome of kidney-marrow deficiency. We found that there are different pathological expressions with the various degree of the tissues damage at the knee and we categorized the knee according to their syndrome. For knee osteoarthritis, different syndromes of traditional Chinese medicine presents different tissues pathological changes at the knee joint under arthroscopy, which will provide objective basis for the diagnosis of this medical condition.

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.

[Study on the correlation between syndrome differ classification of knee osteoarthritis and X-ray image].

PubMed

Jin, Li-Kun; Zhang, Guo-Zhong; Tang, Ke; Liu, Yang

2010-12-01

To study the correlation between syndrome differ classification of knee osteoarthritis and X-ray image, so as to provide evidence for clinical diagnosis and treatment. From Jun. 2007 to Dec. 2007, 78 patients (108 knees) with knee osteoarthritis were reviewed, including 65 females (89 knees) and 13 males (19 knees), ranging in age from 41 to 77 years. According to the standards for the differentiation of syndrome in the treatment of knee osteoarthritis defined in Principle of Clinical Research for New Traditional Herbs, the patients were divided into three types: Type I, insufficiency of the liver and kidney, with stagnation of tendons and muscles, 43 knees; Type II, insufficiency of the spleen and kidney, with dampness infusion into bone and joints, 26 knees; Type I, deficiency of the liver and kidney, with inter-obstruction of phlegm and stasis 39 knees. Normotopia and lateral plain film of knee joint of weigh loading and in erect position, and patellofemoral Skyline plain flim was taken. Joint space narrow, osteophyte generation, subchondral osteosclerosis and subchondral cystic degeneration were evaluated. All data were analyzed by K independent samples nonparametric test in order to find out the correlation between syndrome differ classification of knee osteoarthritis and X-ray image. It was shown that after K independent samples nonparametric test about syndrome differ classification of knee osteoarthritis and X-ray image: there were significant differences among three types about lateral patella osteophyte, condyles of tibia osteophyte and Type II was the most serious, Type I was secondary, Type II was the lightest. Other index had no obvious difference among the three groups. There is certain correlation between syndrome differ classification of knee osteoarthritis and X-ray image. There are significant differences among three types about lateral patella osteophyte, condyles of tibia osteophyte, the Type II is the most serious,Type I is secondary, Type II

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

PubMed

Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara-Pinton, Piergiacomo; Ritelli, Marco

2017-02-01

Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N-propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as "(classic) vascular-like" EDS patients. Herein, we describe a three-generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

PubMed

Cantarini, L; Lucherini, O M; Frediani, B; Brizi, M G; Bartolomei, B; Cimaz, R; Galeazzi, M; Rigante, D

2011-01-01

Cryopyrin-associated periodic syndromes are categorized as a spectrum of three autoinflammatory diseases, namely familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. All are caused by mutations in the NLRP3 gene coding for cryopyrin and result in active interleukin-1 release: their rarity and shared clinical indicators involving skin, joints, central nervous system and eyes often mean that correct diagnosis is delayed. Onset occurs early in childhood, and life-long therapy with interleukin-1 blocking agents usually leads to tangible clinical remission and inflammatory marker normalization in a large number of patients, justifying the need to facilitate early diagnosis and thus avoid irreversible negative consequences for tissues and organs.

Multiple coagulation defects and the Cohen syndrome.

PubMed

Schlichtemeier, T L; Tomlinson, G E; Kamen, B A; Waber, L J; Wilson, G N

1994-04-01

A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down-turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.

Three-dimensional evaluation of the facet joints

NASA Astrophysics Data System (ADS)

Folio, Les R.

1990-04-01

Computerized tomography and magnetic resonance imaging nave revolurionalized analysis of vertebral anatomy and pathology. Further advances with 3-dimensional imaging have recently become an important adjunct for diagnosis and treatment in structural abnormalities. Facets are intimately related to their surrounding musculature and malalignment may cause pain directly or indirectly. High resolution 3-dimensional reformations of CT Scans give us new insight on structure and function of facet joints, since their motion and architecture are ever complex. It is well documented in the literature that facet joint biomecnanics is a partial contributor to the myriad at causes of low back The term "facet Joint syndrome" was coined in 1933 by GhorMley.3 The osteopathic lesion complex is well defined by LeRoy and McCole and comparison of roentgenographic findings before and after manipulation has teen described by Long and Lioyd.4,5 since alterations in facet biamechanics are an important aspect of osteopathic manipulative therapy (OT), 3-dimensional hign resolution imaging will prove to be a great asset in osteopathic research. Rotating the spine allows for different viewing perspectives to provide optimal and consistent measurements of the facet joint. Rotations are performed on the X, Y and 7, axis and measurements pre and post-manipulation are performed and compared on matching axis and perspectives. Rotation about the X, Y and Z axis help appreciate the 3-dimensionality of the vertebral column to project to the viewer a feeling that the spine is floating in space before them. This does give the viewer a 3-D understanding of the object however, only at a perspective at a Lime.

Bilateral total hip arthroplasty in Morquio-Brailsford's syndrome: a report of two cases.

PubMed

Tassinari, Enrico; Boriani, Luca; Traina, Francesco; Dallari, Dante; Toni, Aldo; Giunti, Armando

2008-09-01

We report two cases of bilateral cementless total hip arthroplasty in two young women affected by Morquio-Brailsford syndrome. Morquio-Brailsford disease belongs to the mucopolysaccharidoses; it shows growth retardation with disproportional dwarfism. Usually patients are affected by a severe joint degeneration from their 2nd or 3rd decade. Young age, severe dysplasia, and joint size are the main technical problems for a total hip replacement. Accurate radiographic and CT planning allows the use of standard prostheses instead of custom-made ones.

Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive*

PubMed Central

Pinto, Raimundo José Almeida de Oliveira; dos Santos, Adaílton Araújo; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

2015-01-01

Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

Lumbosacral transitional vertebra causing Bertolotti’s syndrome: a case report and review of the literature

PubMed Central

Koutras, Georgios; Natsis, Konstantinos

2009-01-01

Introduction Lumbosacral transitional vertebra is an anatomical variation of the fifth lumbar vertebra in which an enlarged transverse process can form a joint or fusion with the sacrum or ilium. The association of that variant with low back pain and the change in the biomechanical properties of the lumbar spine is called Bertolotti’s syndrome. Case presentation We report a case of a 40-year-old male patient with chronic low back pain extending to the left buttock, just above the ipsilateral sacroiliac joint. Radiographic investigation revealed an anomalous enlargement of the left transverse process of the fifth lumbar vertebra forming a pseudarthrosis with the infrajacent ala of the sacrum. Conclusion In young patients with back pain the possibility of Bertolotti’s syndrome should always be taken in account. PMID:19830065

Social Attention, Joint Attention and Sustained Attention in Autism Spectrum Disorder and Williams Syndrome: Convergences and Divergences.

PubMed

Vivanti, Giacomo; Fanning, Peter A J; Hocking, Darren R; Sievers, Stephanie; Dissanayake, Cheryl

2017-06-01

There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children with ASD and those with WS presented with overlapping deficits in spontaneous visual engagement with the target of others' attention and in sustained attention. Children with ASD showed syndrome-specific abnormalities in monitoring and following a person's referential gaze, as well as a lack of preferential attention to social stimuli. Children with ASD and WS present with shared as well as syndrome-specific abnormalities across social and non-social dimensions of attention.

Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome Caused by Crystal-Induced Arthritis of the Wrist: A Case Report

PubMed Central

Hakozaki, Michiyuki; Fukuda, Hironari; Tajino, Takahiro; Kikuchi, Shinichi; Abe, Satoshi; Konno, Shinichi

2013-01-01

Objective To describe a rare case of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome caused by gouty arthritis. Clinical Presentation and Intervention A 76-year-old man presented with swelling and pain in the dorsum of feet and hands bilaterally. From the laboratory and radiologic findings, the diagnosis of gout-induced RS3PE syndrome was made. Conservative therapy with nonsteroidal anti-inflammatory drugs (NSAIDs) and intra-articular corticosteroid injection in the wrist joint completely and rapidly resolved all symptoms. The patient was successfully treated with oral administration of NSAIDs and a one-time intra-articular corticosteroid injection in the left wrist joint. Conclusion This case demonstrated the importance of considering the possibility of crystal-induced arthritis such as gout and pseudogout, as well as malignant disease, when diagnosing the primary disease responsible for RS3PE syndrome. PMID:23006891

Overlap between functional GI disorders and other functional syndromes: what are the underlying mechanisms?

PubMed Central

KIM, S. E.; CHANG, L.

2013-01-01

Background Irritable bowel syndrome and other gastrointestinal (GI) and non-GI disorders such as functional dyspepsia, fibromyalgia, temporomandibular joint disorder, interstitial cystitis/painful bladder syndrome, and chronic fatigue syndrome are known as functional pain syndromes. They commonly coexist within the same individual. The pathophysiologic mechanisms of these disorders are not well understood, but it has been hypothesized that they share a common pathogenesis. Purpose The objective of this review is to discuss the proposed pathophysiologic mechanisms, which have been similarly studied in these conditions. These mechanisms include enhanced pain perception, altered regional brain activation, infectious etiologies, dysregulations in immune and neuroendocrine function, and genetic susceptibility. Studies suggest that these functional disorders are multifactorial, but factors which increase the vulnerability of developing these conditions are shared. PMID:22863120

Neuroimaging of Central Sensitivity Syndromes: Key Insights from the Scientific Literature

PubMed Central

Walitt, Brian; Čeko, Marta; Gracely, John L.; Gracely, Richard H.

2016-01-01

Central sensitivity syndromes are characterized by distressing symptoms, such as pain and fatigue, in the absence of clinically obvious pathology. The scientific underpinnings of these disorders are not currently known. Modern neuroimaging techniques promise new insights into mechanisms mediating these postulated syndromes. We review the results of neuroimaging applied to five central sensitivity syndromes: fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, temporomandibular joint disorder, and vulvodynia syndrome. Neuroimaging studies of basal metabolism, anatomic constitution, molecular constituents, evoked neural activity, and treatment effect are compared across all of these syndromes. Evoked sensory paradigms reveal sensory augmentation to both painful and non-painful stimulation. This is a transformative observation for these syndromes, which were historically considered to be completely of hysterical or feigned in origin. However, whether sensory augmentation represents the cause of these syndromes, a predisposing factor, an endophenotype, or an epiphenomenon cannot be discerned from the current literature. Further, the result from cross-sectional neuroimaging studies of basal activity, anatomy, and molecular constituency are extremely heterogeneous within and between the syndromes. A defining neuroimaging “signature” cannot be discerned for any of the particular syndromes or for an over-arching central sensitization mechanism common to all of the syndromes. Several issues confound initial attempts to meaningfully measure treatment effects in these syndromes. At this time, the existence of “central sensitivity syndromes” is based more soundly on clinical and epidemiological evidence. A coherent picture of a “central sensitization” mechanism that bridges across all of these syndromes does not emerge from the existing scientific evidence. PMID:26717948

The metabolic syndrome as a concept of adipose tissue disease.

PubMed

Oda, Eiji

2008-07-01

The metabolic syndrome is a constellation of interrelated metabolic risk factors that appear to directly promote the development of diabetes and cardiovascular disease. However, in 2005, the American Diabetes Association and the European Association for the Study of Diabetes jointly stated that no existing definition of the metabolic syndrome meets the criteria of a syndrome, and there have been endless debates on the pros and cons of using the concept of this syndrome. The controversy may stem from confusion between the syndrome and obesity. Obesity is an epidemic, essentially contagious disease caused by an environment of excess nutritional energy and reinforced by deeply rooted social norms. The epidemic of obesity should be prevented or controlled by social and political means, similar to the approaches now being taken to combat global warming. The diagnosis of metabolic syndrome is useless for this public purpose. The purpose of establishing criteria for diagnosing metabolic syndrome is to find individuals who are at increased risk of diabetes and cardiovascular disease and who require specific therapy including diet and exercise. The syndrome may be an adipose tissue disease different from obesity; in that case, it would be characterized by inflammation clinically detected through systemic inflammatory markers such as high-sensitivity C-reactive protein and insulin resistance reflecting histological changes in adipose tissue. However, many problems in defining the optimal diagnostic criteria remain unresolved.

Does Alport syndrome affect the basement membrane of peritoneal vessels?

PubMed

Sampimon, Denise E; Vlijm, Anniek; Struijk, Dirk G; Krediet, Raymond T

2010-01-01

Alport syndrome and encapsulating peritoneal sclerosis (EPS) are both rare diseases. Their joint occurrence is highly unlikely. Two patients at our center with Alport syndrome developed EPS. We therefore hypothesized that Alport syndrome might predispose to the development of EPS and that this predisposition might be reflected in a fast peritoneal transport rate at baseline. We compared the mass transfer area coefficient (MTAC) of creatinine and the clearances of albumin, immunoglobulin G, and alpha2-macroglobulin at baseline and for all subsequent available measurements in four patient groups: EPS patients with Alport syndrome, EPS patients without Alport syndrome, Alport patients without EPS, and long-term peritoneal dialysis (PD) patients without EPS. The transport characteristics were obtained during a standard peritoneal permeability analysis. Between July 1995 and December 2008, 5 of 417 PD patients treated at our center had Alport syndrome as their primary kidney disease, and 13 of the 417 developed EPS. Of those 13 EPS patients, 2 had Alport syndrome. We observed no differences in the baseline transport characteristics of the four groups under consideration. Taking all measures of transport characteristics into account, only the MTAC of creatinine was higher in the two EPS groups than in the other two groups (p = 0.01). We could not confirm our hypothesis that Alport syndrome affects peritoneal solute clearances.

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.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

PubMed

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

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.

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

PubMed Central

Winter, R M; Patton, M A; Challener, J; Mueller, R F; Baraitser, M

1989-01-01

Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity. Images PMID:2732993

Management of Marfan Syndrome during pregnancy: A real world experience from a Joint Cardiac Obstetric Service.

PubMed

Lim, Joanna C E-S; Cauldwell, Matthew; Patel, Roshni R; Uebing, Anselm; Curry, Ruth A; Johnson, Mark R; Gatzoulis, Michael A; Swan, Lorna

2017-09-15

Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC)). Pregnancies in women with MFS from 2005 to 2015 were identified from our institutional database. Patient records were reviewed and practice assessed against pre-determined standards based on ESC guidelines. There were 23 pregnancies in 15 women with MFS. 13/23 (57%) occurred in women with aortic dilatation at baseline. There were 3 important maternal cardiac events (type A dissection; deterioration in left ventricular function; significant left ventricular and progressive aortic dilatation). Four women did not have access to expert pre-conception counselling. These women were all referred to the JCOS late in established pregnancy. Imaging was often delayed and only 7/23 cases (30%) met the standard for minimum frequency of echocardiographic surveillance. Only 12/23 (52%) had pre-conception imaging of the whole aorta with CT/MRI. Distal aortic dilatation was identified in 7/23 cases but none of these underwent further MRI evaluation during pregnancy. Despite having a dedicated JCOS, our data show that facilitating complete obstetric and cardiac care for this group remains challenging. Education of local care providers and timely referral for expert pre-conception counselling in a JCOS are key. Copyright © 2017 Elsevier B.V. All rights reserved.

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

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome induced by nivolumab.

PubMed

Gauci, Marie-Léa; Baroudjian, Barouyr; Laly, Pauline; Madelaine, Isabelle; Da Meda, Laetitia; Vercellino, Laetitia; Bagot, Martine; Lioté, Frédéric; Pages, Cécile; Lebbé, Céleste

2017-10-01

A new articular syndrome described as immunrelated side effect of immunotherapy: PD-1 inhibitors have revolutionized the treatment of advanced melanoma but are responsible for immune-related toxicity. We report a case of remitting seronegative symetrical synovitis with pitting edema (RS3PE) syndrome induced by nivolumab. A 80 year-old man with stage IV BRAF-wild type and NRAS exon 2-mutated melanoma was treated first line by nivolumab 3mg/kg every 2 weeks. At week 4, before the 3rd infusion, he presented with inflammatory arthralgia, synovitis of proximal interphalangeal, wrist and ankle joints, and edema of both hands and forearms. Laboratory tests showed inflammatory syndrome (CRP = 8.4mg/dL), negative rheumatoid factor, and anti-CCP antibodies. Radiographs did not show any joint erosion but joint ultrasound displayed intra-articular effusion and tenosynovitis. PET/CT performed 6 and 3 months before treatment for melanoma work-up showed an isolated hypermetabolism of the shoulder girdle. The diagnosis of RS3PE was retained. A systemic corticosteroid treatment (0.5mg/kg/d) was initiated; nivolumab was hold during 4 weeks leading to remission of clinical symptoms within 10 days, CRP level normalization and without relapse when nivolumab was resumed. Corticosteroids were progressively tapered and stopped after 9 months. After 5 months, anti-PD1 was definitively stopped because of disease progression. With this atypical case, clinicians should remain alert on a whole range of autoimmune diseases susceptible to be induced. Copyright © 2017 Elsevier Inc. All rights reserved.

Degenerative joint disease: multiple joint involvement in young and mature dogs.

PubMed

Olsewski, J M; Lust, G; Rendano, V T; Summers, B A

1983-07-01

Radiologic, pathologic, and ancillary methods were used to determine the occurrence of degenerative joint disease involving multiple joints of immature and adult dogs. Animals were selected for the development of hip joint dysplasia and chronic degenerative joint disease. Of disease-prone dogs, 82% (45 of 55 dogs) had radiologic changes, indicative of hip dysplasia, by 1 year of age. At necropsy, more abnormal joints were identified than by radiographic examination. Among 92 dogs between 3 to 11 months of age that had joint abnormalities, 71% had hip joint involvement; 38%, shoulder joint involvement; 22%, stifle joint involvement; and 40% had multiple joint involvement. Polyarthritis was asymptomatic and unexpected. Radiographic examination of older dogs also revealed evidence of degenerative joint disease in many joints. Multiple joint involvement was substantiated at necropsy of young and mature dogs. A similar pattern of polyarticular osteoarthritis was revealed in a survey (computer search) of necropsy reports from medical case records of 100 adult and elderly dogs. Usually, the joint disease was an incidental observation, unrelated to the clinical disease or to the cause of death. The frequent occurrence of degenerative changes in several joints of dogs aged 6 months to 17 years indicated that osteoarthritis may be progressive in these joints and raises the possibility that systemic factors are involved in the disease process.

Atypical presentation of systemic lupus erythematosus: parotitis and secondary Sjogren's syndrome. Case report.

PubMed

Criscov, Geanina Irina; Rugină, Aurica; Stana, A B; Azoicăi, Alice Nicoleta; Moraru, Eovelina

2014-01-01

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by auto antibodies directed against self-antigens, immune complex formation and immune deregulations and may affect joints, skin, kidneys, heart, lungs, nervous system, and immune system. The onset can be variable and the symptoms can occur for many years. Parotitis as the initial manifestation of systemic lupus erythematosus (SLE) is a rare condition and can be associated with Sjogren's syndrome. In this article we present the case of a young patient who was diagnosed with Sjogren's syndrome retrospectively, after she met the criteria for SLE.

Determination of Parachute Joint Factors using Seam and Joint Testing

NASA Technical Reports Server (NTRS)

Mollmann, Catherine

2015-01-01

This paper details the methodology for determining the joint factor for all parachute components. This method has been successfully implemented on the Capsule Parachute Assembly System (CPAS) for the NASA Orion crew module for use in determining the margin of safety for each component under peak loads. Also discussed are concepts behind the joint factor and what drives the loss of material strength at joints. The joint factor is defined as a "loss in joint strength...relative to the basic material strength" that occurs when "textiles are connected to each other or to metals." During the CPAS engineering development phase, a conservative joint factor of 0.80 was assumed for each parachute component. In order to refine this factor and eliminate excess conservatism, a seam and joint testing program was implemented as part of the structural validation. This method split each of the parachute structural joints into discrete tensile tests designed to duplicate the loading of each joint. Breaking strength data collected from destructive pull testing was then used to calculate the joint factor in the form of an efficiency. Joint efficiency is the percentage of the base material strength that remains after degradation due to sewing or interaction with other components; it is used interchangeably with joint factor in this paper. Parachute materials vary in type-mainly cord, tape, webbing, and cloth -which require different test fixtures and joint sample construction methods. This paper defines guidelines for designing and testing samples based on materials and test goals. Using the test methodology and analysis approach detailed in this paper, the minimum joint factor for each parachute component can be formulated. The joint factors can then be used to calculate the design factor and margin of safety for that component, a critical part of the design verification process.

Spacesuit mobility joints

NASA Technical Reports Server (NTRS)

Vykukal, H. C. (Inventor)

1978-01-01

Joints for use in interconnecting adjacent segments of an hermetically sealed spacesuit which have low torques, low leakage and a high degree of reliability are described. Each of the joints is a special purpose joint characterized by substantially constant volume and low torque characteristics. Linkages which restrain the joint from longitudinal distension and a flexible, substantially impermeable diaphragm of tubular configuration spanning the distance between pivotally supported annuli are featured. The diaphragms of selected joints include rolling convolutions for balancing the joints, while various joints include wedge-shaped sections which enhance the range of motion for the joints.

Clinical Incidence of Sacroiliac Joint Arthritis and Pain after Sacropelvic Fixation for Spinal Deformity

PubMed Central

Sainoh, Takeshi; Takaso, Masashi; Inoue, Gen; Orita, Sumihisa; Eguchi, Yawara; Nakamura, Junichi; Aoki, Yasuchika; Ishikawa, Tetsuhiro; Miyagi, Masayuki; Arai, Gen; Kamoda, Hiroto; Suzuki, Miyako; Kubota, Gou; Sakuma, Yoshihiro; Oikawa, Yasuhiro; Yamazaki, Masashi; Toyone, Tomoaki; Takahashi, Kazuhisa

2012-01-01

Purpose Sacroiliac fixation using iliac screws for highly unstable lumbar spine has been reported with an improved fusion rate and clinical results. On the other hand, there is a potential for clinical problems related to iliac fixation, including late sacroiliac joint arthritis and pain. Materials and Methods Twenty patients were evaluated. Degenerative scoliosis was diagnosed in 7 patients, failed back syndrome in 6 patients, destructive spondyloarthropathy in 4 patients, and Charcot spine in 3 patients. All patients underwent posterolateral fusion surgery incorporating lumbar, S1 and iliac screws. We evaluated the pain scores, bone union, and degeneration of sacroiliac joints by X-ray imaging and computed tomography before and 3 years after surgery. For evaluation of low back and buttock pain from sacroiliac joints 3 years after surgery, lidocaine was administered in order to examine pain relief thereafter. Results Pain scores significantly improved after surgery. All patients showed bone union at final follow-up. Degeneration of sacroiliac joints was not seen in the 20 patients 3 years after surgery. Patients showed slight low back and buttock pain 3 years after surgery. However, not all patients showed relief of the low back and buttock pain after injection of lidocaine into the sacroiliac joint, indicating that their pain did not originate from sacroiliac joints. Conclusion The fusion rate and clinical results were excellent. Also, degeneration and pain from sacroiliac joints were not seen within 3 years after surgery. We recommend sacroiliac fixation using iliac screws for highly unstable lumbar spine. PMID:22318832

Role of hormones in cartilage and joint metabolism: understanding an unhealthy metabolic phenotype in osteoarthritis.

PubMed

Bay-Jensen, Anne C; Slagboom, Eline; Chen-An, Pingping; Alexandersen, Peter; Qvist, Per; Christiansen, Claus; Meulenbelt, Ingrid; Karsdal, Morten A

2013-05-01

Joint health is affected by local and systemic hormones. It is well accepted that systemic factors regulate the metabolism of joint tissues, and that substantial cross-talk between tissues actively contributes to homeostasis. In the current review, we try to define a subtype of osteoarthritis (OA), metabolic OA, which is dependent on an unhealthy phenotype. Peer-reviewed research articles and reviews were reviewed and summarized. Only literature readily available online, either by download or by purchase order, was included. OA is the most common joint disease and is more common in women after menopause. OA is a disease that affects the whole joint, including cartilage, subchondral bone, synovium, tendons, and muscles. The clinical endpoints of OA are pain and joint space narrowing, which is characterized by cartilage erosion and subchondral sclerosis, suggesting that cartilage is a central tissue of joint health. Thus, the joint, more specifically the cartilage, may be considered a target of endocrine function in addition to the well-described traditional risk factors of disease initiation and progression such as long-term loading of the joint due to obesity. Metabolic syndrome affects a range of tissues and may in part be molecularly described as a dysregulation of cytokines, adipokines, and hormones (e.g., estrogen and thyroid hormone). Consequently, metabolic imbalance may both directly and indirectly influence joint health and cartilage turnover, altering the progression of diseases such as OA. There is substantial evidence for a connection between metabolic health and development of OA. We propose that more focus be directed to understanding this connection to improve the management of menopausal health and associated comorbidities.

Independent and joint associations of TV viewing time and snack food consumption with the metabolic syndrome and its components; a cross-sectional study in Australian adults

PubMed Central

2013-01-01

Background Television (TV) viewing time is positively associated with the metabolic syndrome (MetS) in adults. However, the mechanisms through which TV viewing time is associated with MetS risk remain unclear. There is evidence that the consumption of energy-dense, nutrient poor snack foods increases during TV viewing time among adults, suggesting that these behaviors may jointly contribute towards MetS risk. While the association between TV viewing time and the MetS has previously been shown to be independent of adult’s overall dietary intake, the specific influence of snack food consumption on the relationship is yet to be investigated. The purpose of this study was to examine the independent and joint associations of daily TV viewing time and snack food consumption with the MetS and its components in a sample of Australian adults. Methods Population-based, cross-sectional study of 3,110 women and 2,572 men (>35 years) without diabetes or cardiovascular disease. Participants were recruited between May 1999 and Dec 2000 in the six states and the Northern Territory of Australia. Participants were categorised according to self-reported TV viewing time (low: 0-2 hr/d; high: >2 hr/d) and/or consumption of snack foods (low: 0-3 serves/d; high: >3 serves/d). Multivariate odds ratios [95% CI] for the MetS and its components were estimated using gender-specific, forced entry logistic regression. Results OR [95% CI] for the MetS was 3.59 [2.25, 5.74] (p≤0.001) in women and 1.45 [1.02, 3.45] (p = 0.04) in men who jointly reported high TV viewing time and high snack food consumption. Obesity, insulin resistance and hypertension (women only) were also jointly associated with high TV viewing time and high snack food consumption. Further adjustment for diet quality and central adiposity maintained the associations in women. High snack food consumption was also shown to be independently associated with MetS risk [OR: 1.94 (95% CI: 1.45, 2.60), p < 0.001] and

Independent and joint associations of TV viewing time and snack food consumption with the metabolic syndrome and its components; a cross-sectional study in Australian adults.

PubMed

Thorp, Alicia A; McNaughton, Sarah A; Owen, Neville; Dunstan, David W

2013-08-09

Television (TV) viewing time is positively associated with the metabolic syndrome (MetS) in adults. However, the mechanisms through which TV viewing time is associated with MetS risk remain unclear. There is evidence that the consumption of energy-dense, nutrient poor snack foods increases during TV viewing time among adults, suggesting that these behaviors may jointly contribute towards MetS risk. While the association between TV viewing time and the MetS has previously been shown to be independent of adult's overall dietary intake, the specific influence of snack food consumption on the relationship is yet to be investigated. The purpose of this study was to examine the independent and joint associations of daily TV viewing time and snack food consumption with the MetS and its components in a sample of Australian adults. Population-based, cross-sectional study of 3,110 women and 2,572 men (>35 years) without diabetes or cardiovascular disease. Participants were recruited between May 1999 and Dec 2000 in the six states and the Northern Territory of Australia. Participants were categorised according to self-reported TV viewing time (low: 0-2 hr/d; high: >2 hr/d) and/or consumption of snack foods (low: 0-3 serves/d; high: >3 serves/d). Multivariate odds ratios [95% CI] for the MetS and its components were estimated using gender-specific, forced entry logistic regression. OR [95% CI] for the MetS was 3.59 [2.25, 5.74] (p≤0.001) in women and 1.45 [1.02, 3.45] (p = 0.04) in men who jointly reported high TV viewing time and high snack food consumption. Obesity, insulin resistance and hypertension (women only) were also jointly associated with high TV viewing time and high snack food consumption. Further adjustment for diet quality and central adiposity maintained the associations in women. High snack food consumption was also shown to be independently associated with MetS risk [OR: 1.94 (95% CI: 1.45, 2.60), p < 0.001] and hypertension [OR: 1.43 (95% CI: 1

Social Attention, Joint Attention and Sustained Attention in Autism Spectrum Disorder and Williams Syndrome: Convergences and Divergences

ERIC Educational Resources Information Center

Vivanti, Giacomo; Fanning, Peter A. J.; Hocking, Darren R.; Sievers, Stephanie; Dissanayake, Cheryl

2017-01-01

There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children…

Constitutional trisomy 8 and Behçet syndrome.

PubMed

Becker, Kristin; Fitzgerald, Oliver; Green, Andrew J; Keogan, Mary; Newbury-Ecob, Ruth; Greenhalgh, Lynn; Withers, Stephen; Hollox, Edward J; Aldred, Patricia M R; Armour, John A L

2009-05-01

The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable-number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required.

[Implant with a mobile or a fixed bearing in unicompartmental knee joint replacemen].

PubMed

Matziolis, G; Tohtz, S; Gengenbach, B; Perka, C

2007-12-01

Although the goal of anatomical and functional joint reconstruction in unicompartmental knee replacement is well defined, no uniform implant design has become established. In particular, the differential indications for implantation of an implant with a mobile or a fixed bearing are still not clear. The long-term results of mobile and with fixed bearings are comparable, but there are significant differences in resulting knee joint kinematics, tribological properties and implant-associated complications. In unicompartmental knee replacement mobile bearings restore the physiological joint kinematics better than fixed implants, although the differences to total knee arthroplasty seem minor. The decoupling of mobile bearings from the tibia implant allows a high level of congruence with the femoral implant, resulting in larger contact areas than with fixed bearings. This fact in combination with the more physiological joint kinematics leads to less wear and a lower incidence of osteolyses with mobile bearings. Disadvantages of mobile bearings are the higher complication and early revision rates resulting from bearing dislocation and impingement syndromes caused by suboptimal implantation technique or instability. Especially in cases with ligamentous pathology fixed bearings involve a lower complication rate. It seems their use can also be beneficial in patients with a low level of activity, as problems related to wear are of minor importance for this subgroup. The data currently available allow differentiations between various indications for implants with mobile or fixed bearings, so that the implants can be matched to the patient and the joint pathology in unicompartmental knee joint replacement.

[Clinical features of the hand-arm vibration syndrome in miners].

PubMed

Kákosy, Tibor; Németh, László; Kiss, Gábor; Lászlóffy, Marianna; Kardos, Kálmán

2006-05-07

It is well known that the vibrating tools used by the miners can cause hand-arm vibration syndrome. However no detailed reports on this field could be found in the Hungarian literature. The aim of this study was to clarify the clinical features of the hand-arm vibration syndrome of the miners. The circulation, the peripheral nerves and the osteoarticular system of the upper extremities of 152 miners were examined by means of cold provocation test, Allen-test, measurement of systolic blood pressure performed by Doppler flowmeter, clinical neurological and neurographic examination and X-ray investigation of the bones and joints. Hand-arm vibration syndrome was diagnosed in 87 patients (57.2%). The most common symptom was the lesion of the circulation which occurred in 78 patients (89.6%). The peripheral nerves were affected in 44 cases (50.5%). Radiological alteration of the bones and joints of the upper extremities was observed in 32 patients (36.8%). Out of 78 damaged cases the frequency of the vascular diseases was as follows: angiopathy (diminished systolic blood pressure in the fingers): 66 patient (84.6%), occlusion of the hand arteries (positive Allen-test) and arterial form of the thoracic outlet syndrome (positive elevation-test) respectively: 28 and 28 cases (35.9%), Raynaud phenomenon (positive cold-provocation test): 26 cases (33.3%). The peripheral nerves were examined in detail in 141 cases. Pathological alterations were observed in 78 patients (55.3%) in the following forms: carpal tunnel syndrome: 66 cases (84.6%), peripheral neuropathy of the upper limbs: 20 patients (25.6%), lesion of the ulnar nerve: 3 cases (3.8%), brachial plexus lesion: one patient (1.3%). Radiological alteration was most common in the carpal region (87 cases, 57.2%). The frequency of the lesion of cubital (40.4%) and shoulder region (40.7%) was practically the same. In the carpal region the most common alterations were the degenerative processes (23 cases, 15.1%) followed by

Reiter's syndrome among Asian shipboard immigrants: the case of The Golden Venture.

PubMed

Solitar, B M; Lozada, C J; Tseng, C E; Lowe, A M; Krajewski, W M; Blanchard, K; Pillinger, M; Weissmann, G; Weissman, G

1998-04-01

To assess the incidence of Reiter's syndrome aboard The Golden Venture, a ship carrying illegal immigrants from China to the United States. After identification of an index case, we conducted telephone interviews with medical staff at immigrant detention centers in Pennsylvania, New York, and Virginia. When a potential case was identified at one facility, we performed a site inspection, reviewing the medical records of all detainees and performing histories and physicals on all those with joint and/or ocular complaints. We identified two patients, both HLA B27 positive, with Reiter's syndrome. The observed incidence (0.87%) approximated the predicted incidence but may have underestimated the actual incidence. We review the history of shipboard Reiter's syndrome, and discuss the pathogenic roles of HLA B27 and particular infectious agents. Continued transportation of illegal immigrants from China and other parts of the world is likely to result in occasional clusters of Reiter's syndrome. Physicians treating immigrant populations should remain aware of the possibility of reactive arthritis.

Upper Extremity Compartment Syndrome in a Patient with Acute Gout Attack but without Trauma or Other Typical Causes.

PubMed

Skedros, John G; Smith, James S; Henrie, Marshall K; Finlinson, Ethan D; Trachtenberg, Joel D

2018-01-01

We report the case of a 30-year-old Polynesian male with a severe gout flare of multiple joints and simultaneous acute compartment syndrome (ACS) of his right forearm and hand without trauma or other typical causes. He had a long history of gout flares, but none were known to be associated with compartment syndrome. He also had concurrent infections in his right elbow joint and olecranon bursa. A few days prior to this episode of ACS, high pain and swelling occurred in his right upper extremity after a minimal workout with light weights. A similar episode occurred seven months prior and was attributed to a gout flare. Unlike past flares that resolved with colchicine and/or anti-inflammatory medications, his current upper extremity pain/swelling worsened and became severe. Hand and forearm fasciotomies were performed. Workup included general medicine, rheumatology and infectious disease consultations, myriad blood tests, and imaging studies including Doppler ultrasound and CT angiography. Additional clinical history suggested that he had previously unrecognized recurrent exertional compartment syndrome that led to the episode of ACS reported here. Chronic exertional compartment syndrome (CECS) presents a difficult diagnosis when presented with multiple symptoms concurrently. This case provides an example of one such diagnosis.

Upper Extremity Compartment Syndrome in a Patient with Acute Gout Attack but without Trauma or Other Typical Causes

PubMed Central

Smith, James S.; Henrie, Marshall K.; Finlinson, Ethan D.; Trachtenberg, Joel D.

2018-01-01

We report the case of a 30-year-old Polynesian male with a severe gout flare of multiple joints and simultaneous acute compartment syndrome (ACS) of his right forearm and hand without trauma or other typical causes. He had a long history of gout flares, but none were known to be associated with compartment syndrome. He also had concurrent infections in his right elbow joint and olecranon bursa. A few days prior to this episode of ACS, high pain and swelling occurred in his right upper extremity after a minimal workout with light weights. A similar episode occurred seven months prior and was attributed to a gout flare. Unlike past flares that resolved with colchicine and/or anti-inflammatory medications, his current upper extremity pain/swelling worsened and became severe. Hand and forearm fasciotomies were performed. Workup included general medicine, rheumatology and infectious disease consultations, myriad blood tests, and imaging studies including Doppler ultrasound and CT angiography. Additional clinical history suggested that he had previously unrecognized recurrent exertional compartment syndrome that led to the episode of ACS reported here. Chronic exertional compartment syndrome (CECS) presents a difficult diagnosis when presented with multiple symptoms concurrently. This case provides an example of one such diagnosis. PMID:29796328

Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis.

PubMed

Propst, Evan J; Ngan, Bo Y; Mount, Richard J; Martin-Munoz, Daniel; Blaser, Susan; Harrison, Robert V; Cushing, Sharon L; Papsin, Blake C

2013-02-01

Auriculo-condylar syndrome (ACS) is a rare condition affecting first branchial arch structures. The types of hearing loss and temporal bone findings in ACS have not been reported. We describe a 14-year-old male with constricted pinnae, mandibular dysostosis, glossoptosis, a high-arched palate, hearing loss, and cholesteatoma. Computed tomography imaging demonstrated malleoincudal joint ankylosis. The fused malleoincudal complex was removed during mastoidectomy for cholesteatoma. Electron microscopy and histopathology of the joint suggested the fusion was congenital. This is the first report of ossicular fusion and cholesteatoma in ACS and the most detailed in vivo evidence of disruption of embryogenesis during malleoincudal joint formation. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Periprosthetic joint infection: are patients with multiple prosthetic joints at risk?

PubMed

Jafari, S Mehdi; Casper, David S; Restrepo, Camilo; Zmistowski, Benjamin; Parvizi, Javad; Sharkey, Peter F

2012-06-01

Patients who present with a periprosthetic joint infection in a single joint may have multiple prosthetic joints. The risk of these patients developing a subsequent infection in another prosthetic joint is unknown. Our purposes were (1) to identify the risk of developing a subsequent infection in another prosthetic joint and (2) to describe the time span and organism profile to the second prosthetic infection. We retrospectively identified 55 patients with periprosthetic joint infection who had another prosthetic joint in place at the time of presentation. Of the 55 patients, 11 (20%) developed a periprosthetic joint infection in a second joint. The type of organism was the same as the first infection in 4 (36%) of 11 patients. The time to developing a second infection averaged 2.0 years (range, 0-6.9 years). Copyright © 2012 Elsevier Inc. All rights reserved.

Home-care treatment of swimmer syndrome in a miniature schnauzer dog.

PubMed

Kim, Sun-A; Na, Ki-Jeong; Cho, Jong-Ki; Shin, Nam-Shik

2013-09-01

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy.

Home-care treatment of swimmer syndrome in a miniature schnauzer dog

PubMed Central

Kim, Sun-A; Na, Ki-Jeong; Cho, Jong-Ki; Shin, Nam-Shik

2013-01-01

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy. PMID:24155492

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.

MRI features of cervical articular process degenerative joint disease in Great Dane dogs with cervical spondylomyelopathy.

PubMed

Gutierrez-Quintana, Rodrigo; Penderis, Jacques

2012-01-01

Cervical spondylomyelopathy or Wobbler syndrome commonly affects the cervical vertebral column of Great Dane dogs. Degenerative changes affecting the articular process joints are a frequent finding in these patients; however, the correlation between these changes and other features of cervical spondylomyelopathy are uncertain. We described and graded the degenerative changes evident in the cervical articular process joints from 13 Great Danes dogs with cervical spondylomyelopathy using MR imaging, and evaluated the relationship between individual features of cervical articular process joint degeneration and the presence of spinal cord compression, vertebral foraminal stenosis, intramedullary spinal cord changes, and intervertebral disc degenerative changes. Degenerative changes affecting the articular process joints were common, with only 13 of 94 (14%) having no degenerative changes. The most severe changes were evident between C4-C5 and C7-T1 intervertebral spaces. Reduction or loss of the hyperintense synovial fluid signal on T2-weighted MR images was the most frequent feature associated with articular process joint degenerative changes. Degenerative changes of the articular process joints affecting the synovial fluid or articular surface, or causing lateral hypertrophic tissue, were positively correlated with lateral spinal cord compression and vertebral foraminal stenosis. Dorsal hypertrophic tissue was positively correlated with dorsal spinal cord compression. Disc-associated spinal cord compression was recognized less frequently. © 2011 Veterinary Radiology & Ultrasound.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

PubMed Central

Hamel, B C; Raams, A; Schuitema-Dijkstra, A R; Simons, P; van der Burgt, I; Jaspers, N G; Kleijer, W J

1996-01-01

We report on a male patient born to healthy, first cousin, Moroccan parents. During the pregnancy growth retardation was observed. Birth weight, length, and OFC were all well below the 3rd centile. Facial anomalies, microphthalmia, cleft palate, small penis, and flexion contractures of large joints were noted. Cerebral MRI showed dysmyelination. The clinical course was characterised by feeding difficulties, growth failure, lack of development, photosensitivity, and death at 7 months. The main differential diagnoses were COFS syndrome and early onset Cockayne syndrome (CS). UV exposure of cultured fibroblasts showed inhibition of nucleic acids synthesis. Further DNA repair studies showed extreme cellular sensitivity to UV and xeroderma pigmentosum (XP)-like defective nucleotide excision repair (NER), which in combination with the clinical symptoms indicated the very rare XP-CS complex. Complementation analysis showed that the XPG gene is affected in this patient. In cases suspected of having COFS syndrome and early onset CS, extensive DNA repair studies are needed to reach the definitive diagnosis, thereby allowing reliable genetic counselling and prenatal diagnosis. Images PMID:8818951

Surgical difficulties for Total Knee Replacement in Stickler syndrome: A case report

PubMed Central

Verma, Gopalkrishna G; Zarough, Adel; Suraliwala, KH

2008-01-01

Stickler syndrome is believed to be the most common connective tissue disorder in Europe and the USA. Severe osteoarthritis sets in at very early age in 3rd to 4th decade of life necessitating joint arthroplasty. This case report highlights the intraoperative surgical difficulties faced by the surgeon and the planning needed for the operation. PMID:18816376

Spine epidural and sacroiliac joints injections--when and how to perform.

PubMed

D'Orazio, Federico; Gregori, Lorenzo Maria; Gallucci, Massimo

2015-05-01

To review the state-of-the-art of image-guided techniques used to treat painful syndromes of the lower back, their indications, how they should be performed, their related risks and the expected results. We describe the actual standards about image-guided infiltrative therapies both on spine and on sacroiliac joints. Both spinal epidural and sacroiliac injections appear useful in a large percentage of treated patients to get control of the perceived pain. Performing these therapies under CT or fluoroscopic guidance is the best and safest way to obtain satisfactory results because it is possible to target the use of drugs directly to the involved painful structures. Image-guided injections of the epidural space and of the sacroiliac joints are effective techniques for the treatment of pain; their effectiveness is sometimes not lasting for long periods of time but considering the low associated risk when performed by trained personnel, they can be easily repeated. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Magnetic resonance imaging in Tietze's syndrome.

PubMed

Volterrani, L; Mazzei, M A; Giordano, N; Nuti, R; Galeazzi, M; Fioravanti, A

2008-01-01

To evaluate the usefulness of magnetic resonance imaging (MRI) in Tietze's syndrome which, to our knowledge, has not previously been reported in the literature. Twelve consecutive outpatients with clinical features of Tietze's syndrome underwent evaluation, including the anamnesis, clinical general examination, clinical evaluation of costosternal and sternoclavicular joints (SCJ) and biochemical and instrumental investigations. Twenty normal subjects age- and sex-matched to the patients' group were examined in a similar manner. MRI of costosternal and SCJ was performed using a 1.5 Tesla unit (Gyroscan NT 1.5 Philips, The Netherlands and GE Signa Excite HD, GE Healthcare, Milwaukee, Wis., USA). The MRI pattern of primary Tietze's syndrome was characterized as follows: enlargement and thickening of cartilage at the site of complaint (12/12 patients); focal or widespread increased signal intensities of affected cartilage on both TSE T2-weighted and STIR or FAT SAT images (10/12 patients); bone marrow oedema in the subcondral bone (5/12 patients); vivid gadolinium uptake in the areas of thickened cartilage, in the subcondral bone marrow and/or in capsule and ligaments (10/12, 4/12 and 7/12 patients respectively). Magnetic resonance is an excellent technique to evidence both the cartilage and bone abnormalities, therefore it represents the elective method in the investigation of primary Tietze's syndrome, due to its high sensitivity, diagnostic reliability and biological advantages thanks to the lack of ionizing radiation.

Impact extractive fracture of jointed steel plates of a bolted joint

NASA Astrophysics Data System (ADS)

Daimaruya, M.; Fujiki, H.; Ambarita, H.

2012-08-01

This study is concerned with the development of a fracture criterion for the impact fracture of jointed steel plates of a bolted joint used in a car body. For the accurate prediction of crash characteristics of car bodies by computer-aided engineering (CAE), it is also necessary to examine the behavior and fracture of jointed steel plates subjected to impact loads. Although the actual impact fracture of jointed steel plates of a bolted joint used in cars is complicated, for simplifying the problem it might be classified into the shear fracture and the extractive fracture of jointed steel plates. Attention is given to the extractive fracture of jointed steel plates in this study. The extractive behavior and fracture of three kinds of steel plates used for cars are examined in experiments and numerical simulations. The impact extraction test of steel plates jointed by a bolt is performed using the one-bar method, together with the static test. In order to understand the mechanism of extractive fracture process of jointed steel plates, numerical simulations by a FEM code LS-DYNA are also carried out. The obtained results suggest that a stress-based fracture criterion may be developed for the impact extractive fracture of jointed steel plates of a bolted joint used in a car body.

Eagle's syndrome-A non-perceived differential diagnosis of temporomandibular disorder.

PubMed

Thoenissen, P; Bittermann, G; Schmelzeisen, R; Oshima, T; Fretwurst, T

2015-01-01

This article unveils a case of the classic styloid syndrome and states that panoramic imaging and ultrasound can be an alternative to computed tomography. In addition, the endoscope-assisted extraoral approach using CT-based navigation is useful. Eagle's Syndrome is an aggregate of symptoms described by Eagle in 1937. He described different forms: the classic styloid syndrome consisting of elongation of the styloid process which causes pain. Second, the stylo-carotid-artery syndrome which is responsible for transient ischemic attack or stroke. Using the example of a 66 years old male patient suffering from long term pain, we explain our diagnostic and surgical approach. After dissecting the styloid process of the right side using an extraoral approach, the pain ceased and the patient could be discharged without any recurrence of the pain up to this point. Eagle's syndrome, with its similar symptoms, is rather difficult to differentiate from temporomandibular joint disorders (TMD), but can be easily excluded from possible differential diagnoses of TMD using panoramic radiographs and ultrasound. Making use of low cost and easily accessible diagnostic workup techniques can reveal this particular cause for chronic pain restricting quality of life. Thereby differentiation from the TMD symptomatic complex is possible. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Joint Instability and Osteoarthritis

PubMed Central

Blalock, Darryl; Miller, Andrew; Tilley, Michael; Wang, Jinxi

2015-01-01

Joint instability creates a clinical and economic burden in the health care system. Injuries and disorders that directly damage the joint structure or lead to joint instability are highly associated with osteoarthritis (OA). Thus, understanding the physiology of joint stability and the mechanisms of joint instability-induced OA is of clinical significance. The first section of this review discusses the structure and function of major joint tissues, including periarticular muscles, which play a significant role in joint stability. Because the knee, ankle, and shoulder joints demonstrate a high incidence of ligament injury and joint instability, the second section summarizes the mechanisms of ligament injury-associated joint instability of these joints. The final section highlights the recent advances in the understanding of the mechanical and biological mechanisms of joint instability-induced OA. These advances may lead to new opportunities for clinical intervention in the prevention and early treatment of OA. PMID:25741184

Joint instability and osteoarthritis.

PubMed

Blalock, Darryl; Miller, Andrew; Tilley, Michael; Wang, Jinxi

2015-01-01

Joint instability creates a clinical and economic burden in the health care system. Injuries and disorders that directly damage the joint structure or lead to joint instability are highly associated with osteoarthritis (OA). Thus, understanding the physiology of joint stability and the mechanisms of joint instability-induced OA is of clinical significance. The first section of this review discusses the structure and function of major joint tissues, including periarticular muscles, which play a significant role in joint stability. Because the knee, ankle, and shoulder joints demonstrate a high incidence of ligament injury and joint instability, the second section summarizes the mechanisms of ligament injury-associated joint instability of these joints. The final section highlights the recent advances in the understanding of the mechanical and biological mechanisms of joint instability-induced OA. These advances may lead to new opportunities for clinical intervention in the prevention and early treatment of OA.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

PubMed

Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L C; Lachman, Ralph S; Rimoin, David L; Cohn, Daniel H; Krakow, Deborah; Robertson, Stephen P

2007-02-01

Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied. Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated. The clinical signs most frequently associated with a FLNB mutation are the presence of supernumerary carpal and tarsal bones and short, broad, spatulate distal phalanges, particularly of the thumb. All individuals with Larsen syndrome-associated FLNB mutations are heterozygous for either missense or small inframe deletions. Three mutations are recurrent, with one mutation, 5071G-->A, observed in 6 of 20 subjects. The distribution of mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome. These findings collectively define autosomal dominant Larsen syndrome and demonstrate clustering of causative mutations in FLNB.

[Hand-arm vibration syndrome in a nurse carrying out gypsum cutting operations].

PubMed

Speziale, Martina; Picchiotti, E

2009-01-01

A professional nurse, employed mainly on gypsum cutting operations, developed a hand-arm vibration syndrome with Raynaud's phenomenon, neurosensitive disorders and impairment of the bone and joints apparatus of the hand and arm. The nurse underwent diagnostic investigations (cold test, X-ray of the upper limbs, blood tests); also the vibration levels transmitted from instrument were measured and the exposure times were established. Clinical investigations showed the presence of a hand-arm vibration syndrome with secondary Raynaud's phenomenon and environmental surveys revealed very high vibration levels, such as could be associated with the disease with a causal relationship. In the literature no reports exist of the vibration syndrome being associated with health care workers in orthopaedic departments. The case described in this study occurred because of peculiar organisational factors that most likely have never occurred in other hospitals or orthopaedic departments.

Inflammatory arthritis mimicking Complex Regional Pain Syndrome (CRPS) in a child: A case report.

PubMed

Egilmez, Zeliha; Turgut, Selin Turan; Icagasioglu, Afitap; Bicakci, Irem

2016-01-01

Joint complaints in childhood are seen frequently and differential diagnosis can be difficult. Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease of childhood. It involves peripheral joint arthritis, chronic synovitis, and extra-articular manifestations. Accurate diagnosis can take a long time and sometimes multiple diagnoses are used while following the patient until a final diagnosis can be reached. Arthritis may be triggered by trauma and confused with other diseases like complex regional pain syndrome (CRPS), in which trauma plays a role in the etiology. In the present case, ankle pain in an 8-year-old girl was misdiagnosed as CRPS.

The Effect of Vibration on Postural Response of Down Syndrome Individuals on the Seesaw

ERIC Educational Resources Information Center

Carvalho, Regiane Luz; Almeida, Gil Lucio

2009-01-01

In order to better understand the role of proprioception in postural adjustments on unstable surfaces, we analyzed the effect of vibration on the pattern of muscle activity and joint displacements (ankle, knee and hip) of eight intellectually normal participants (control group-CG) and eight individuals with Down syndrome (DS) while balancing on…

[Professor WU Zhongchao's experience in the treatment of bi syndrome with fire needling therapy at lower he-sea points].

PubMed

Zhou, Yu; Chen, Zhongjie; Liu, Chun; Wang, Bing; Zhang, Ning; Li, Caifen; Xie, Qian

2016-07-12

Bi syndrome is classified into five categories. Based on the syndrome differentiation of meridians and collaterals and zangfu theories, Professor WU Zhongchao proposed the fire needling therapy at the lower he -sea points for five types of bi syndromes. Professor WU stresses on the flexible application of fire needling therapy for bi syndrome at the lower he -sea points and innovated the unique five techniques of fire needling therapy, named lifting and threating needle of small amplitude at the lower he -sea points, the stimulation along the relevant meri-dians before fire needling, detecting the sensitive sites by gentle pressing the relevant lower he -sea points, combining the movement of affected upper limb or joint during fire needling, or combining with contralateral needling technique, and controlling the depth of fire needling based on the duration of sickness and depth of affected site. He pointed out that Shangjuxu (ST 37) is for skin bi syndrome, Zusanli (ST 36) for muscle bi syndrome, Yanglingquan (GB 34) for tendon bi syndrome, Weizhong (BL 40) for bone bi syndrome and Xiajuxu (ST 39) for vessel bi syndrome.

RS3PE syndrome presenting as vascular endothelial growth factor associated disorder

PubMed Central

Arima, K; Origuchi, T; Tamai, M; Iwanaga, N; Izumi, Y; Huang, M; Tanaka, F; Kamachi, M; Aratake, K; Nakamura, H; Ida, H; Uetani, M; Kawakami, A; Eguchi, K

2005-01-01

Methods: Vascular endothelial growth factor165 (VEGF165), tumour necrosis factor α (TNFα), and interleukin 1ß (IL1ß) were measured by enzyme linked immunosorbent assay (ELISA) in serum samples from three patients with RS3PE syndrome. As controls, serum samples from 26 healthy volunteers, 12 patients with rheumatoid arthritis, 10 patients with systemic lupus erythematosus, 13 patients with polymyositis/dermatomyositis, 13 patients with vasculitis syndrome, and 6 patients with mixed connective tissue disease were also analysed. Synovial hypervascularity of patients with RS3PE syndrome was estimated by rate of enhancement (E-rate) in a dynamic MRI study. Results: Serum concentrations of VEGF165 (mean (SD) 2223.3 (156.3) pg/ml) were significantly higher in patients with active RS3PE syndrome than in controls before corticosteroid treatment. TNFα and IL1ß levels were similar in patients and controls. Synovial hypervascularity in affected joints and subcutaneous oedema decreased during corticosteroid treatment, in parallel with the fall in serum VEGF165. Conclusions: VEGF promotes synovial inflammation and vascular permeability in patients with RS3PE syndrome, suggesting that RS3PE can be classified as a VEGF associated disorder. PMID:16227418

The hindlimb in walking horses: 2. Net joint moments and joint powers.

PubMed

Clayton, H M; Hodson, E; Lanovaz, J L; Colborne, G R

2001-01-01

The objective of the study was to describe net joint moments and joint powers in the equine hindlimb during walking. The subjects were 5 sound horses. Kinematic and force data were collected synchronously and combined with morphometric information to determine net joint moments at each hindlimb joint throughout stance and swing. The results showed that the net joint moment was on the caudal/plantar side of all hindlimb joints at the start of stance when the limb was being actively retracted. It moved to the cranial/dorsal side around 24% stride at the hip and stifle and in terminal stance at the more distal joints. It remained on the cranial/dorsal side of all joints during the first half of swing to provide active limb protraction, then moved to the caudal/plantar aspect to reverse the direction of limb motion prior to ground contact. The hip joint was the main source of energy generation throughout the stride. It was assisted by the tarsal joint in both stance and swing phases and by the fetlock joint during the stance phase. The coffin joint acted as an energy damper during stance, whereas the stifle joint absorbed almost equal amounts of energy in the stance and swing phases. The coffin and fetlock joints absorbed energy as the limb was protracted and retracted during the swing phase, suggesting that their movements were driven by inertial forces. Future studies will apply these findings to detect changes in the energy profiles due to specific soft tissue injuries.

[Correlation study between interleukin-17 and ESR and CRP in serum and the synovial fluid of rheumatoid arthritis patients of accumulated dampness-heat obstruction in joints syndrome].

PubMed

Liu, De-Fang; Yan, Jiao; Guo, Ming-Yang; Wang, Chao; Hu, Yong-He; Yang, Min; Yun, Ming-Dong; Luo, Yong; Zhang, Jun; Li, Hua

2014-03-01

To probe the function of interleukin-17 (IL-17) in rheumatoid arthritis (RA) patients of accumulated dampness-heat obstruction in joints syndrome (ADOJS) by detecting levels of IL-17 in serum and the synovial fluid and analyzing its correlation with erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). From January 2011 to January 2013, recruited were 90 RA inpatients of ADOJS at Department of Integrative Medical Rheumatism, General Hospital of Chengdu Military Region, of which 28 patients had knee joint effusion. Besides, 30 healthy volunteers who received physical examination at our hospital were recruited as the normal control group, and 30 patients with osteoarthritis (OA) who had knee joint effusion were recruited as the synovial fluid control group. The expression levels of IL-17 in serum and the synovial fluid were detected by enzyme linked immunosorbent assay (ELISA), and contents of ESR and CRP were detected in RA patients. Then correlation analyses were performed between levels of IL-17 and contents of ESR and CRP. Compared with the normal serum control group, the expression levels of IL-17 in serum of RA patients significantly increased (P < 0.05). Compared with the serum of RA patients and the synovial fluid of OA patients, the expression levels of IL-17 in the synovial fluid of RA patients significantly increased (P < 0.05). The expression levels of IL-17 in serum of RA patients were not correlated with ESR or CRP (r = 0.092, -0.082; P > 0.05), and the expressional levels of IL-17 in the synovial fluid of RA patients were not correlated with ESR or CRP (r = 0.113, -0.034; P > 0.05). IL-17 was the main effector cytokine of Th17 cells. The expressional levels of IL-17 significantly increased in serum and the synovial fluid of RA patients of ADOJS, but with no correlation to ESR or CRP. It indicated that IL-17 participated in the occurrence and development of RA. Concrete mechanisms needed to be further proved in larger samples.

The Analysis of Adhesively Bonded Advanced Composite Joints Using Joint Finite Elements

NASA Technical Reports Server (NTRS)

Stapleton, Scott E.; Waas, Anthony M.

2012-01-01

The design and sizing of adhesively bonded joints has always been a major bottleneck in the design of composite vehicles. Dense finite element (FE) meshes are required to capture the full behavior of a joint numerically, but these dense meshes are impractical in vehicle-scale models where a course mesh is more desirable to make quick assessments and comparisons of different joint geometries. Analytical models are often helpful in sizing, but difficulties arise in coupling these models with full-vehicle FE models. Therefore, a joint FE was created which can be used within structural FE models to make quick assessments of bonded composite joints. The shape functions of the joint FE were found by solving the governing equations for a structural model for a joint. By analytically determining the shape functions of the joint FE, the complex joint behavior can be captured with very few elements. This joint FE was modified and used to consider adhesives with functionally graded material properties to reduce the peel stress concentrations located near adherend discontinuities. Several practical concerns impede the actual use of such adhesives. These include increased manufacturing complications, alterations to the grading due to adhesive flow during manufacturing, and whether changing the loading conditions significantly impact the effectiveness of the grading. An analytical study is conducted to address these three concerns. Furthermore, proof-of-concept testing is conducted to show the potential advantages of functionally graded adhesives. In this study, grading is achieved by strategically placing glass beads within the adhesive layer at different densities along the joint. Furthermore, the capability to model non-linear adhesive constitutive behavior with large rotations was developed, and progressive failure of the adhesive was modeled by re-meshing the joint as the adhesive fails. Results predicted using the joint FE was compared with experimental results for various

Spacesuit mobility knee joints

NASA Technical Reports Server (NTRS)

Vykukal, H. C. (Inventor)

1979-01-01

Pressure suit mobility joints are for use in interconnecting adjacent segments of an hermetically sealed spacesuit in which low torques, low leakage and a high degree of reliability are required. Each of the joints is a special purpose joint characterized by substantially constant volume and low torque characteristics and includes linkages which restrain the joint from longitudinal distension and includes a flexible, substantially impermeable diaphragm of tubular configuration spanning the distance between pivotally supported annuli. The diaphragms of selected joints include rolling convolutions for balancing the joints, while various joints include wedge-shaped sections which enhance the range of motion for the joints.

[H syndrome: First reported paediatric case in Latin America].

PubMed

Abarca Barriga, Hugo Hernán; Trubnykova, Milana; Polar Córdoba, Victoria; Ramos Diaz, Katherine Joyce; Aviles Alfaro, Nélida

H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. To present a clinical case with "typical" characteristics of H Syndrome. The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

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.

Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

PubMed Central

2013-01-01

Background Graph theory has been recently introduced to characterize complex brain networks, making it highly suitable to investigate altered connectivity in neurologic disorders. A current model proposes autism spectrum disorder (ASD) as a developmental disconnection syndrome, supported by converging evidence in both non-syndromic and syndromic ASD. However, the effects of abnormal connectivity on network properties have not been well studied, particularly in syndromic ASD. To close this gap, brain functional networks of electroencephalographic (EEG) connectivity were studied through graph measures in patients with Tuberous Sclerosis Complex (TSC), a disorder with a high prevalence of ASD, as well as in patients with non-syndromic ASD. Methods EEG data were collected from TSC patients with ASD (n = 14) and without ASD (n = 29), from patients with non-syndromic ASD (n = 16), and from controls (n = 46). First, EEG connectivity was characterized by the mean coherence, the ratio of inter- over intra-hemispheric coherence and the ratio of long- over short-range coherence. Next, graph measures of the functional networks were computed and a resilience analysis was conducted. To distinguish effects related to ASD from those related to TSC, a two-way analysis of covariance (ANCOVA) was applied, using age as a covariate. Results Analysis of network properties revealed differences specific to TSC and ASD, and these differences were very consistent across subgroups. In TSC, both with and without a concurrent diagnosis of ASD, mean coherence, global efficiency, and clustering coefficient were decreased and the average path length was increased. These findings indicate an altered network topology. In ASD, both with and without a concurrent diagnosis of TSC, decreased long- over short-range coherence and markedly increased network resilience were found. Conclusions The altered network topology in TSC represents a functional correlate of structural abnormalities and may play a

Professional Support of Self-Help Groups: A Support Group Project for Chronic Fatigue Syndrome Patients.

ERIC Educational Resources Information Center

Carlsen, Benedicte

2003-01-01

Study follows a collaborative support group project between a team of health professionals and a Chronic Fatigue Syndrome patients' group. While advantageous for professionals to decide upon the aim of a joint intervention in dialogue with participants, simply asking participants what their aims are does not guarantee actual agreement. Case study…

Joint Enabling Capabilities Command

Science.gov Websites

Executive Director Chief of Staff Joint Planning Support Element Joint Communications Support Element mission Joint Enabling Capabilities Command provides decisive joint communications, planning and public and responsive support for joint communications, planning and public affairs. Priorities * Deliver

Of bugs and joints: the relationship between infection and joints.

PubMed

Espinoza, Luis R; García-Valladares, Ignacio

2013-01-01

The association between microbes and joints has existed since antiquity, and remains complex. Diagnosis is often times difficult to determine despite highly suspicious clinical characteristics for the presence of an underlying infection. Over the several past decades, considerable advances have occurred in diagnostic methodologies and therapy. However, the morbidity and mortality of septic arthritis remains high. Great advances have occurred in the diagnosis, pathogenesis, and therapeutic management of reactive arthritis, and there is evidence that when the responsible microorganism is Chlamydia trachomathis, complete remission and cure is possible. Emergent infections, especially viral, has been recognized, i.e. HIV, hepatitis C, and most recently Chikengunya virus, and in the case of HIV associated articular manifestations, the introduction of HAART has resulted in a decrease in the incidence and development of newer complications such as the immune reconstitution syndrome. The infectious etiology of rheumatoid arthritis is being strongly considered once again, and the exciting association with periodontal disease is at the forefront of intense research. The gut microbiota is also being investigated and new and most interesting data is being gathered of the potential role of commensal gut organisms and the pathogenesis of rheumatoid arthritis. Copyright © 2011 Elsevier España, S.L. All rights reserved.

Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Chronic Hemodialysis Patient

PubMed Central

Yamada, Shunsuke; Fuyuno, Seiya; Eriguchi, Masahiro; Tsuruya, Kazuhiko; Kitazono, Takanari

2012-01-01

A 75-year-old male who was undergoing chronic hemodialysis developed abrupt-onset pitting edema and pain in the dorsum of both hands and feet. Biochemical analysis disclosed increased C-reactive protein, and negative rheumatoid factor and antinuclear antibody. Radiological examination showed no bony erosion. Computed tomography and gallium scintigraphy revealed no active infection or neoplasms. The clinical diagnosis was remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. The pitting edema and inflammatory response quickly subsided after low-dose prednisolone therapy. This case demonstrates that RS3PE syndrome could be a differential diagnosis in elderly patients undergoing dialysis who develop pitting edema and joint pain. PMID:22431931

Pustulotic Arthro-Osteitis (Sonozaki Syndrome): A Case Report and Review of Literature

PubMed Central

Kose, Reyhan; Senturk, Taskin; Sargin, Gokhan; Cildag, Songul; Kara, Yasemin

2018-01-01

Pustulotic arthro-osteitis (PAO) is a rare chronic inflammatory disease, which has now been classified as a seronegative spondyloarthritis. The sternoclavicular and sternocostal joints, pelvis, vertebra, hip, and long bones are affected. Skin findings of the disease are accepted as a variant of pustular psoriasis, but some authors have suggested that palmoplantar pustulosis (PPP) is a different entity. The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome should be considered in the differential diagnosis. PAO differs from SAPHO by the absence of hyperostosis and the difference in skin manifestations. Here, we aimed to present a 34-year-old female patient with a diagnosis of PAO with typical skin findings and joint involvement. PMID:29531495

Bone imaging of the heel in Reiter's syndrome. [/sup 99m/Tc-pyrophosphate

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

Khalkhali, I.; Stadalnik, R.C.; Wiesner, K.B.

1979-01-01

Classic Reiter's syndrome, which affects young adult males, is characterized by arthritis, conjunctivitis, and nongonococcal urethritis. Other features of probably equal significance include circinate balanitis, shallow ulcerations of the buccal mucosa, and a dermatitis. Reiter's arthritis is usually asymmetrical and tends to involve lower extremity joints. Talalgia, or heel pain, is an often underrated characteristic feature of the arthritis. With an incidence of 50% talalgia can be localized to either the posterior aspect of the heel or to the plantar surface of the heel. Radiographic alterations in these regions are common in patients with recurrent or chronic disease, but aremore » infrequent or minimal in patients with acute Reiter's syndrome. Recent observation of a young male with Reiter's syndrome suggests that bone imaging may help substantiate this clinical feature before radiography reveals calcaneal spurs.« less

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

PubMed

Beneteau, Claire; Cavé, Hélène; Moncla, Anne; Dorison, Nathalie; Munnich, Arnold; Verloes, Alain; Leheup, Bruno

2009-10-01

We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp and p.Asn308Asp) and three in SOS1 (p.Arg552Ser and p.Arg552Thr). The latter are the first SOS1 mutations reported outside PTPN11 in NL/MGCL syndrome. MGCL lesions were observed in jaws ('cherubism') and joints ('pigmented villonodular synovitis'). We show through those patients that both types of MGCL are not PTPN11-specific, but rather represent a low penetrant (or perhaps overlooked) complication of the dysregulated RAS/MAPK signaling pathway. We recommend discarding NL/MGCL syndrome from the nosology, as this presentation is neither gene-nor allele-specific of Noonan syndrome; these patients should be described as Noonan syndrome with MGCL (of the mandible, the long bone...). The term cherubism should be used only when multiple giant cell lesions occur without any other clinical and molecular evidence of Noonan syndrome, with or without mutations of the SH3BP2 gene.

MP Joint Arthritis

MedlinePlus

... is extensive and severe, joint replacement or joint fusion are effective surgical options. Learn more about joint ... the tabs at the top (Video, Articles/WEB, Images, JHS, Products/Vendors), or the filters on the ...

[Noninvasive alternatives to CPAP in therapy of obstructive sleep apnea syndrome].

PubMed

Fritsch, K; Bloch, K E

2000-07-01

Non-surgical treatment of the sleep apnea syndrome comprises behavioral modification such as sleep hygiene, weight reduction, and positional training as an adjunct to standard therapy with continuous positive airway pressure (CPAP) applied via a nasal mask. For patients who cannot tolerate or are not willing to use CPAP for psychological or other reasons, removable intraoral appliances that advance the mandible during sleep are a valuable treatment alternative. Randomised controlled trials have confirmed effectiveness of intraoral appliances in relieving symptoms and measured sleep and respiratory disturbances. Side effects including hypersalivation, mucosal dryness, tooth and temporo-mandibular joint discomfort are common but usually mild. To timely detect effects of oral appliances on occlusion and on the temporo-mandibular joint longterm orthodontic monitoring is advisable.

Increased delivery stride length places greater loads on the ankle joint in elite male cricket fast bowlers.

PubMed

Spratford, Wayne; Hicks, Amy

2014-01-01

The purpose of this study was to investigate the effect stride length has on ankle biomechanics of the leading leg with reference to the potential risk of injury in cricket fast bowlers. Ankle joint kinematic and kinetic data were collected from 51 male fast bowlers during the stance phase of the final delivery stride. The bowling cohort comprised national under-19, first class and international-level athletes. Bowlers were placed into either Short, Average or Long groups based on final stride length, allowing statistical differences to be measured. A multivariate analysis of variance with a Bonferroni post-hoc correction (α = 0.05) revealed significant differences between peak plantarflexion angles (Short-Long P = 0.005, Average and Long P = 0.04) and negative joint work (Average-Long P = 0.026). This study highlighted that during fast bowling the ankle joint of the leading leg experiences high forces under wide ranges of movement. As stride length increases, greater amounts of negative work and plantarflexion are experienced. These increases place greater loads on the ankle joint and move the foot into positions that make it more susceptible to injuries such as posterior impingement syndrome.

[Ultrasound in complex of radiological studies in diagnosis of ankle joint medial aspect pathologies].

PubMed

Gurgenidze, T; Mizandari, M

2011-10-01

The aim of the research is to study sonosemiotics of ankle joint pathology by means of ultrasound in order to optimize the diagnostic process and improve the treatment. 130 patients (age ranges from 5 to 70 years) underwent the radiological study of ankle joint medial aspect. Pathology types: degenerative-dystrophic diseases - 39 (30%), inflammatory pathology - 21 (16.2%), traumatic injuries - 20 (15.2%), vascular pathologies - 26 (20%), neurogenic problems -7 (5.4%), soft tissue neoplasms - 5 (3.8%), congenital anomalies - 7 (5.4%) and vertebral pathology - 5 (4.0%). The diagnostic studies include: a) Ultrasound, performed on digital ultrasound system using high frequency (7.5-12.0 MHz) linear probe with Doppler capability (all patients); b) X-Ray filming in antero-posterior and lateral projections (6 patients- 4.5%); c) MRI - T1 and T2 weighted images in saggital and transverse planes 10 patients (10.0%) and d) CT - 2 patients (1.5%); To 2 (1.5%) patient biopsy has been performed. This study showed that ultrasound was successful in ankle joint medial aspect pathology diagnosis in 108 cases (84.0%); It was ineffective in osseous pathology definition. In final diagnosis of impingment syndrom MRI was required in 4 (3.6%) cases. It is concluded that ultrasound should be used as a Gold Standard in diagnosis of localized pain and swelling in the ankle joint.

Management issues in the metabolic syndrome.

PubMed

Deedwania, P C; Gupta, R

2006-10-01

The metabolic syndrome or cardiovascular dysmetabolic syndrome is characterized by obesity, central obesity, insulin resistance, atherogenic dyslipidemia, and hypertension. The major risk factors leading to this syndrome are physical inactivity and an atherogenic diet and cornerstone clinical feature is abdominal obesity or adiposity. In addition, patients usually have elevated triglycerides, low HDL cholesterol, elevated LDL cholesterol, other abnormal lipid parameters, hypertension, and elevated fasting blood glucose. Impaired fibrinolysis, increased susceptibility to thrombotic events, and raised inflammatory markers are also observed. Given that India has the largest number of subjects with type-2 diabetes in the world it can be extrapolated that this country also has the largest number of patients with the metabolic syndrome. Epidemiological studies confirm a high prevalence. Therapeutic approach involves intervention at a macro-level and control of multiple risk factors using therapeutic lifestyle approaches (diet control and increased physical activity, pharmacotherapy - anti-obesity agents) for control of obesity and visceral obesity, and targeted approach for control of individual risk factors. Pharmacological therapy is a critical step in the management of patients with metabolic syndrome when lifestyle modifications fail to achieve the therapeutic goals. Anti-obesity drugs such as sibutramine and orlistat can be tried to reduce weight and central obesity and jointly control the metabolic syndrome components. Other than weight loss, there is no single best therapy and treatment should consist of treatment of individual components of the metabolic syndrome. Newer drugs such as the endocannabinoid receptor blocker,rimonabant, appear promising in this regard. Atherogenic dyslipidemia should be controlled initially with statins if there is an increase in LDL cholesterol. If there are other lipid abnormalities then combination therapy of statin with fibrates

[Ehler-Danlos syndrome type VIII].

PubMed

Ciarloni, L; Perrigouard, C; Lipsker, D; Cribier, B

2010-03-01

Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late. A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII. Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded. Copyright 2009 Elsevier Masson SAS. All rights reserved.

Joint sealant study

DOT National Transportation Integrated Search

1987-09-01

ADOT has approximately 550 lane miles of jointed portland cement pavement under its jurisdiction. The current practice is to saw and seal the joints at the time of construction and reseal the joints under a rehabilitation project. ADOT does not speci...

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

Psychosocial Factors and Central Sensitivity Syndromes

PubMed Central

Adams, Leah M.; Turk, Dennis C.

2016-01-01

Central sensitivity syndromes (CSSs) represent a heterogeneous group of disorders (e.g., fibromyalgia [FM], irritable bowel syndrome [IBS], chronic headache, temporomandibular disorders [TMDs], pelvic pain syndromes) that share common symptoms, with persistent pain being the most prominent feature. Although the etiology and pathophysiology of CSSs are currently incompletely understood, central sensitization has emerged as one of the significant mechanisms. Given that there are currently no known cures for CSSs, people living with these disorders must learn to cope with and manage their symptoms throughout their lives. Medical interventions alone have not proven to be sufficient for helping people with CSSs manage their symptoms. A biopsychosocial perspective that considers the ways that biological, psychological, and social factors work independently and jointly to affect a person's experience is the most effective conceptualization and guide for effective treatment. In this article, we discuss several psychological and social features that may influence the experience of a person with CSS and their symptom management, regardless of their specific diagnosis. We highlight the longitudinal aspect of adjustment to illness, the distinction between psychosocial factors as causes of symptoms versus modifiers and perpetuators of symptoms, dispel the notion that all patients with the same diagnosis are a homogeneous group (the “patient-uniformity myth”), and acknowledge the importance of environmental and situational context on symptom management for individuals with any CSS. PMID:26088211

RS3PE syndrome presenting as vascular endothelial growth factor associated disorder.

PubMed

Arima, K; Origuchi, T; Tamai, M; Iwanaga, N; Izumi, Y; Huang, M; Tanaka, F; Kamachi, M; Aratake, K; Nakamura, H; Ida, H; Uetani, M; Kawakami, A; Eguchi, K

2005-11-01

To characterise serum concentrations of various cytokines and detection by magnetic resonance imaging (MRI) of synovial hypervascularity in patients with remitting seronegative symmetrical synovitis with pitting oedema (RS3PE) syndrome before and after corticosteroid treatment. Vascular endothelial growth factor(165) (VEGF(165)), tumour necrosis factor alpha (TNFalpha), and interleukin 1beta (IL1beta) were measured by enzyme linked immunosorbent assay (ELISA) in serum samples from three patients with RS3PE syndrome. As controls, serum samples from 26 healthy volunteers, 12 patients with rheumatoid arthritis, 10 patients with systemic lupus erythematosus, 13 patients with polymyositis/dermatomyositis, 13 patients with vasculitis syndrome, and 6 patients with mixed connective tissue disease were also analysed. Synovial hypervascularity of patients with RS3PE syndrome was estimated by rate of enhancement (E-rate) in a dynamic MRI study. Serum concentrations of VEGF(165) (mean (SD) 2223.3 (156.3) pg/ml) were significantly higher in patients with active RS3PE syndrome than in controls before corticosteroid treatment. TNFalpha and IL1beta levels were similar in patients and controls. Synovial hypervascularity in affected joints and subcutaneous oedema decreased during corticosteroid treatment, in parallel with the fall in serum VEGF(165). VEGF promotes synovial inflammation and vascular permeability in patients with RS3PE syndrome, suggesting that RS3PE can be classified as a VEGF associated disorder.

A Case of Paraneoplastic Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome Improved by Chemotherapy

PubMed Central

Sakamoto, Takahiko; Ota, Shuji; Haruyama, Terunobu; Ishihara, Masashi; Natsume, Maika; Fukasawa, Yoko; Tanzawa, Shigeru; Usui, Ryo; Honda, Takeshi; Ichikawa, Yasuko; Watanabe, Kiyotaka; Seki, Nobuhiko

2017-01-01

The patient was a 69-year-old male who had started experiencing acute-onset pain in both shoulder joints and edema of both hands and feet. His symptoms progressively worsened within 1 month. Laboratory data indicated elevated CRP and erythrocyte sedimentation rate despite the normal range of antinuclear antibodies and rheumatoid factor and normal organ function. Furthermore, imaging data of the hand indicated synovitis without bone erosions. Meanwhile, chest CT revealed a lung tumor, leading to a diagnosis of primary lung adenocarcinoma with EGFR mutation (cT2aN3M0, stage IIIB). Based on these findings, he was diagnosed as suffering from paraneoplastic remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Thereafter, his symptoms disappeared as the tumor size was rapidly decreased by gefitinib therapy for lung adenocarcinoma. Currently, RS3PE syndrome can be classified as a vascular endothelial growth factor (VEGF)-associated disorder. Given that his symptoms improved by chemotherapy, the present case further supported the possible hypothesis that paraneoplastic RS3PE syndrome might be caused by tumor-induced VEGF. Therefore, the present case suggested that the symptoms of acute-onset joint pain accompanied by pitting edema in elderly patients should be considered suspicious for a malignant tumor, thereby warranting a detailed full-body examination. PMID:29430239

Friction-Induced Mitochondrial Dysregulation Contributes to Joint Deterioration in Prg4 Knockout Mice

PubMed Central

Waller, Kimberly A.; Zhang, Ling X.; Jay, Gregory D.

2017-01-01

Deficiency of PRG4 (lubricin), the boundary lubricant in mammalian joints, contributes to increased joint friction accompanied by superficial and upper intermediate zone chondrocyte caspase-3 activation, as shown in lubricin-null (Prg4−/−) mice. Caspase-3 activity appears to be reversible upon the restitution of Prg4 either endogenously in vivo, in a gene trap mouse, or as an applied lubricant in vitro. In this study we show that intra-articular injection of human PRG4 in vivo in Prg4−/− mice prevented caspase-3 activation in superficial zone chondrocytes and was associated with a modest decrease in whole joint friction measured ex vivo using a joint pendulum method. Non-lubricated Prg4−/− mouse cartilage shows caspase cascade activation caused by mitochondrial dysregulation, and significantly higher levels of peroxynitrite (ONOO− and −OH) and superoxide (O−2) compared to Prg4+/+ and Prg4+/− cartilage. Enzymatic activity levels of caspase 8 across Prg4 mutant mice were not significantly different, indicating no extrinsic apoptosis pathway activation. Western blots showed caspase-3 and 9 activation in Prg4−/− tissue extracts, and the appearance of nitrosylated Cys163 in the active cleft of caspase-3 which inhibits its enzymatic activity. These findings are relevant to patients at risk for arthrosis, from camptodactyl-arthropathy-coxa vara-pericarditis (CACP) syndrome and transient lubricin insufficiency due to trauma and inflammation. PMID:28604608

Eagle's syndrome veiling as pain of odontogenic origin: Report of two cases with cone beam computed tomography illustration

PubMed Central

Ranjan, Vikash; Rai, Shalu; Misra, Deepankar; Panjwani, Sapna

2015-01-01

Eagle's syndrome, also known as an elongated styloid process, is a condition that may be the source of craniofacial and cervical pain. It is infrequently reported but is probably more common than generally considered. The symptoms related to Eagle's syndrome can be confused with those attributed to a wide variety of facial neuralgia and or oral, dental, and temporomandibular joint diseases. In this paper, there are two cases, which reported to the Department of Oral Medicine, Diagnosis, and Maxillofacial Radiology, with a chief complaint of radiating pain in the preauricular region of the face. After radiographic investigation, these cases are considered as a case of Eagle's syndrome because of increase in the size of the styloid process. PMID:27390501

Antiphospholipid Syndrome with Antiβ2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome.

PubMed

Przepiera-Będzak, Hanna; Brzosko, Marek

2016-12-01

The antiphospholipid antibody syndrome is defined by the presence of antiphospholipid antibodies in patients with recurrent venous or arterial thromboembolism (1). SAPHO syndrome is a rare disease, characterized by specific clinical manifestations of synovitis, acne pustulosis, hyperostosis, and osteitis. It is a disease that manifests with a combination of osseous and articular manifestations associated with skin lesions (2). Venous thrombosis complicating SAPHO syndrome seems to be uncommon with an unclear pathogenesis (3-9). Coexistence of antiphospholipid syndrome and SAPHO syndrome was not previously mentioned in literature. A 33-year-old white woman was diagnosed with SAPHO syndrome at the age of 31. The patient was previously diagnosed with polycystic ovary syndrome and depressive syndrome. She was treated with sulfasalazin (2 g daily) and methotrexate (20 mg weekly). Seven months before admission to our department she experienced an episode of deep vein thrombosis of the left leg, successfully treated with subcutaneous enoxaparin sodium (40 mg daily) that was continued for the following 6 months as secondary prophylaxis. Pustular skin changes on palmar surface of the hands and plantar surface of the feet (characteristic for palmo-plantar pustulosis), tenderness of sterno-clavicular joints, swelling and restricted motion of both wrists, and pain on motion in both elbows, shoulders, knees, and ankles were found on physical examination. There was also a moderate amount of effusion in her left knee. There was a 3-centimeter difference between the circumferences of the shins. The level of C reactive protein was increased (6.21 mg/L). The patient was positive for antiβ2glicoprotein-1 (anti-β2G-1) antibodies. Tests for anticardiolipin antibodies (aCL), antiannexin V antibodies, antiphosphatidylserine antibodies (aPS), and antiprothrombin antibodies (aPT) were negative. Prothrombin time, activated partial thromboplastin time, and D-dimer level were normal, and

The effect of angle and moment of the hip and knee joint on iliotibial band hardness.

PubMed

Tateuchi, Hiroshige; Shiratori, Sakiko; Ichihashi, Noriaki

2015-02-01

Although several studies have described kinematic deviations such as excessive hip adduction in patients with iliotibial band (ITB) syndrome, the factors contributing to increased ITB hardness remains undetermined, owing to lack of direct in vivo measurement. The purpose of this study was to clarify the factors contributing to an increase in ITB hardness by comparing the ITB hardness between the conditions in which the angle, moment, and muscle activity of the hip and knee joint are changed. Sixteen healthy individuals performed the one-leg standing under five conditions in which the pelvic and trunk inclination were changed in the frontal plane. The shear elastic modulus in the ITB was measured as an indicator of the ITB hardness using shear wave elastography. The three-dimensional joint angle and external joint moment in the hip and knee joints, and muscle activities of the gluteus maximus, gluteus medius, tensor fasciae latae, and vastus lateralis, which anatomically connect to the ITB, were also measured. ITB hardness was significantly increased in the posture with pelvic and trunk inclination toward the contralateral side of the standing leg compared with that in all other conditions (increase of approximately 32% compared with that during normal one-leg standing). This posture increased both the hip adduction angle and external adduction moment at the hip and knee joint, although muscle activities were not increased. Our findings suggest that coexistence of an increased adduction moment at the hip and knee joints with an excessive hip adduction angle lead to an increase in ITB hardness. Copyright © 2014 Elsevier B.V. All rights reserved.

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.

[Larsen syndrome: two reports of cases with spinal cord compromise].

PubMed

Martín Fernández-Mayoralas, D; Fernández-Jaén, A; Muñoz-Jareño, N; Calleja-Pérez, B; San Antonio-Arce, V; Martínez-Boniche, H

Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome

PubMed Central

Berruto, Massimo; Parente, Andrea; Ferrua, Paolo; Pasqualotto, Stefano; Uboldi, Francesco; Usellini, Eva

2015-01-01

A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable to walk without crutches and severely limited in daily living activities. Because of arthritic changes of the patellofemoral joint and the failure of previous surgeries it was decided to perform only an open lateral release and medial patellofemoral ligament (MPFL) reconstruction using a biosynthetic ligament in order to obtain patellofemoral stability. At one year post-op range of motion (ROM) was 0–120 with a firm end point at medial patellar mobilization; patella was stable throughout the entire ROM. All the scores improved and she could be able to perform daily activity without sensation of instability. Bilateral patellar subluxation and systemic hyperlaxity are characteristics of syndromic patients and according to literature can be also present in DiGeorge syndrome. MPFL reconstruction with lateral release was demonstrated to be the correct solution in the treatment of patellar instability in this complex case. The choice of an artificial ligament to reconstruct the MPFL was useful in this specific patient with important tissue laxity due to her congenital syndrome. PMID:26783479

Joint swelling

MedlinePlus

... of arthritis caused by buildup of uric acid crystals in a joint ( gout ) Arthritis caused by wear ... osteoarthritis ) Arthritis caused by buildup of calcium-type crystals in joints ( pseudogout ) Disorder that involves arthritis and ...

The joint flanker effect and the joint Simon effect: On the comparability of processes underlying joint compatibility effects.

PubMed

Dittrich, Kerstin; Bossert, Marie-Luise; Rothe-Wulf, Annelie; Klauer, Karl Christoph

2017-09-01

Previous studies observed compatibility effects in different interference paradigms such as the Simon and flanker task even when the task was distributed across two co-actors. In both Simon and flanker tasks, performance is improved in compatible trials relative to incompatible trials if one actor works on the task alone as well as if two co-actors share the task. These findings have been taken to indicate that actors automatically co-represent their co-actor's task. However, recent research on the joint Simon and joint flanker effect suggests alternative non-social interpretations. To which degree both joint effects are driven by the same underlying processes is the question of the present study, and it was scrutinized by manipulating the visibility of the co-actor. While the joint Simon effect was not affected by the visibility of the co-actor, the joint flanker effect was reduced when participants did not see their co-actors but knew where the co-actors were seated. These findings provide further evidence for a spatial interpretation of the joint Simon effect. In contrast to recent claims, however, we propose a new explanation of the joint flanker effect that attributes the effect to an impairment in the focusing of spatial attention contingent on the visibility of the co-actor.

Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome).

PubMed

Tins, Bernhard; Cassar-Pullicino, Victor

2003-05-01

A case of bilateral synovial osteochondromatosis in a patient with hereditary arthro-ophthalmopathy is presented. The osteochondral lesions were largely calcified in one joint and largely chondromatous in the other. Typical features of hereditary arthro-ophthalmopathy are reviewed and it is hypothesised that the abnormal collagen in this syndrome is responsible for the development of synovial osteochondromatosis. Synovial manifestations of skeletal dysplasias have to our knowledge not been described previously but we suggest that synovial osteochondromatosis can be the manifestation of an underlying skeletal dysplasia.

A Modelling Method of Bolt Joints Based on Basic Characteristic Parameters of Joint Surfaces

NASA Astrophysics Data System (ADS)

Yuansheng, Li; Guangpeng, Zhang; Zhen, Zhang; Ping, Wang

2018-02-01

Bolt joints are common in machine tools and have a direct impact on the overall performance of the tools. Therefore, the understanding of bolt joint characteristics is essential for improving machine design and assembly. Firstly, According to the experimental data obtained from the experiment, the stiffness curve formula was fitted. Secondly, a finite element model of unit bolt joints such as bolt flange joints, bolt head joints, and thread joints was constructed, and lastly the stiffness parameters of joint surfaces were implemented in the model by the secondary development of ABAQUS. The finite element model of the bolt joint established by this method can simulate the contact state very well.

Down syndrome: national conference on patient registries, research databases, and biobanks.

PubMed

Oster-Granite, Mary Lou; Parisi, Melissa A; Abbeduto, Leonard; Berlin, Dorit S; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A; Reeves, Roger H; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R B; Maddox, Yvonne T

2011-01-01

A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

Mutual coordination strengthens the sense of joint agency in cooperative joint action.

PubMed

Bolt, Nicole K; Poncelet, Evan M; Schultz, Benjamin G; Loehr, Janeen D

2016-11-01

Philosophers have proposed that when people coordinate their actions with others they may experience a sense of joint agency, or shared control over actions and their effects. However, little empirical work has investigated the sense of joint agency. In the current study, pairs coordinated their actions to produce tone sequences and then rated their sense of joint agency on a scale ranging from shared to independent control. People felt more shared than independent control overall, confirming that people experience joint agency during joint action. Furthermore, people felt stronger joint agency when they (a) produced sequences that required mutual coordination compared to sequences in which only one partner had to coordinate with the other, (b) held the role of follower compared to leader, and (c) were better coordinated with their partner. Thus, the strength of joint agency is influenced by the degree to which people mutually coordinate with each other's actions. Copyright © 2016 Elsevier Inc. All rights reserved.

Joint Chiefs of Staff > Leadership

Science.gov Websites

Senior Enlisted Advisor Joint Staff History Joint Staff Inspector General Joint Staff Structure Origin of J8 | Force Structure, Resources & Assessment Contact Joint Staff Structure Joint Staff Organizational Chart Joint Chiefs of Staff Links Home Today in DOD About DOD Top Issues News Photos/Videos

Two-year clinical results of patients with sacroiliac joint syndrome treated by arthrodesis using a triangular implant system.

PubMed

Bornemann, Rahel; Roessler, Philip P; Strauss, Andreas C; Sander, Kirsten; Rommelspacher, Yorck; Wirtz, Dieter C; Pflugmacher, Robert; Frey, Sönke P

2017-01-01

Sacroiliac joint (SIJ) syndrome can cause various symptoms and may also be one reason for persistent low back pain, especially in patients with prior spinal fusions. If conservative treatments fail to improve symptoms, arthrodesis surgery can be considered. Minimally invasive approaches have emerged recently providing a good alternative to conventional methods. A novel triangular implant system (iFuse) can achieve an arthrodesis of the SIJ without the use of additional screws or bone material. Aim of the present study was an evaluation of short-term safety and efficacy of the implant system. Twenty-four patients were included in the study and treated with the iFuse system. In addition to demographic data, pain intensity (visual analogue scale) and functional impairment (Oswestry-disability index) were assessed prior to surgery and 1 month, 3 months, 6 months, 12 months and 24 months thereafter. During surgery and the follow up period all adverse events were documented and the correct implant position was controlled via plain radiographs. VAS scores and ODI improved significantly directly after surgery from 84.3 ± 9.2 mm to 40.7 ± 9.2 mm and from 76.8 ± 9.2% to 40.7 ± 9.2 % (p < 0.001). The ODI improved further to 31 ± 5.4% after 24 months whereas the VAS improved until the 3 months examination and ten stayed constant between 27.7 mm and 26.5 mm to 27 ± 6.6 mm at 24 months. No adverse events, intraoperative complications, implant malpositioning or loosening could be recorded at any time. The iFuse system is an effective and safe treatment for minimally invasive surgical arthrodesis of the SIJ. Pain and functional impairment can be significantly improved. However, in addition to this case series, further controlled studies are necessary, particularly in terms of a previous spinal fusion history.

Kinematic classification of iliotibial band syndrome in runners.

PubMed

Grau, S; Krauss, I; Maiwald, C; Axmann, D; Horstmann, T; Best, R

2011-04-01

Several inconsistent causative biomechanical factors are considered to be crucial in the occurrence of iliotibial band syndrome (ITBS). The focus of this study was on assessing differences in the kinematic characteristics between healthy runners [control group (CO)] and runners with ITBS in order to recommend treatment strategies to deal with this injury. Three-dimensional kinematics of barefoot running was used in the biomechanical setup. Both groups were matched with respect to gender, height and weight. After determining drop outs, the final population comprised 36 subjects (26 male and 10 female): 18 CO and 18 ITBS (13 male and five female, each). Kinematic evaluations indicate less hip adduction and frontal range of motion at the hip joint in runners with ITBS. Furthermore, maximum hip flexion velocity and maximum knee flexion velocity were lower in runners with ITBS. Lack of joint coordination, expressed as earlier hip flexion and a tendency toward earlier knee flexion, was found to be another discriminating variable in subjects with ITBS compared with CO subjects. We assume that an increase in range of motion at the hip joint, stretching of the hip abductors, as well as stretching the hamstrings, calf muscles and hip flexors will help treat ITBS. © 2009 John Wiley & Sons A/S.

Pulmonary atelectasis manifested after induction of anesthesia: a contribution of sinobronchial syndrome?

PubMed

Igarashi, Ayuko; Amagasa, Sumio; Oda, Shinya; Yokoo, Noriko

2007-01-01

A 31-year-old man underwent general anesthesia for sinus surgery. Anesthesia was induced with midazolam and butorphanol, and an endotracheal tube was orally placed with a bronchoscope, due to difficulty with temporomandibular joint opening. Ventilation difficulty and increased peak inspiratory pressure were noticed shortly after tracheal intubation, and bronchoscopy was performed for diagnosis. The bronchi were filled with a clear mucous secretion. Removal of the secretion improved respiration and decreased the peak inspiratory pressure. A chest roentgenogram taken prior to extubation showed right upper lobe atelectasis. A diagnosis of sinobronchial syndrome was made postoperatively. The etiology of the acutely developed atelectasis was unclear. However, the latent syndrome may have induced excessive airway secretion with stimuli such as endotracheal intubation.

Signaling networks in joint development

PubMed Central

Salva, Joanna E.; Merrill, Amy E.

2016-01-01

Here we review studies identifying regulatory networks responsible for synovial, cartilaginous, and fibrous joint development. Synovial joints, characterized by the fluid-filled synovial space between the bones, are found in high-mobility regions and are the most common type of joint. Cartilaginous joints unite adjacent bones through either a hyaline cartilage or fibrocartilage intermediate. Fibrous joints, which include the cranial sutures, form a direct union between bones through fibrous connective tissue. We describe how the distinct morphologic and histogenic characteristics of these joint classes are established during embryonic development. Collectively, these studies reveal that despite the heterogeneity of joint strength and mobility, joint development throughout the skeleton utilizes common signaling networks via long-range morphogen gradients and direct cell-cell contact. This suggests that different joint types represent specialized variants of homologous developmental modules. Identifying the unifying aspects of the signaling networks between joint classes allows a more complete understanding of the signaling code for joint formation, which is critical to improving strategies for joint regeneration and repair. PMID:27859991

Impact of movement training on upper limb motor strategies in persons with shoulder impingement syndrome

PubMed Central

Roy, Jean-Sébastien; Moffet, Hélène; McFadyen, Bradford J; Lirette, Richard

2009-01-01

Background Movement deficits, such as changes in the magnitude of scapulohumeral and scapulathoracic muscle activations or perturbations in the kinematics of the glenohumeral, sternoclavicular and scapulothoracic joints, have been observed in people with shoulder impingement syndrome. Movement training has been suggested as a mean to contribute to the improvement of the motor performance in persons with musculoskeletal impairments. However, the impact of movement training on the movement deficits of persons with shoulder impingement syndrome is still unknown. The aim of this study was to evaluate the short-term effects of supervised movement training with feedback on the motor strategies of persons with shoulder impingement syndrome. Methods Thirty-three subjects with shoulder impingement were recruited. They were involved in two visits, one day apart. During the first visit, supervised movement training with feedback was performed. The upper limb motor strategies were evaluated before, during, immediately after and 24 hours after movement training. They were characterized during reaching movements in the frontal plane by EMG activity of seven shoulder muscles and total excursion and final position of the wrist, elbow, shoulder, clavicle and trunk. Movement training consisted of reaching movements performed under the supervision of a physiotherapist who gave feedback aimed at restoring shoulder movements. One-way repeated measures ANOVAs were run to analyze the effect of movement training. Results During, immediately after and 24 hours after movement training with feedback, the EMG activity was significantly decreased compared to the baseline level. For the kinematics, total joint excursion of the trunk and final joint position of the trunk, shoulder and clavicle were significantly improved during and immediately after training compared to baseline. Twenty-four hours after supervised movement training, the kinematics of trunk, shoulder and clavicle were back to the

Trigeminal neuralgia post-styloidectomy in Eagle syndrome: a case report

PubMed Central

2012-01-01

Introduction Eagle syndrome is a condition characterized by an elongated (>3cm) styloid process with associated symptoms of recurrent facial or throat pain. In this report we present a case of Eagle syndrome exhibiting the typical findings of glossopharyngeal nerve involvement, as well as unusual involvement of the trigeminal nerve. Notably, this patient developed a classical trigeminal neuralgia post-styloidectomy. Case presentation A 68-year-old Caucasian woman presented with a 25-year history of dull pain along the right side of her throat, lateral neck, and jaw. Her symptoms were poorly controlled with medication until 15 years ago when she was diagnosed with Eagle syndrome, and underwent a manual fracture of her styloid process. This provided symptomatic relief until 5 years ago when the pain recurred and progressed. She underwent a styloidectomy via a lateral neck approach, which resolved the pain once again. However, 6 months ago a new onset of triggerable, electric shock-like facial pain began within the right V1 and V2 distributions. Conclusions Eagle syndrome is distressing to patients and often difficult to diagnose due to its wide variability in symptoms. It is easily confused with dental pain or temporomandibular joint disorder, leading to missed diagnoses and unnecessary procedures. Pain along the jaw and temple is an unusual but possible consequence of Eagle syndrome. An elongated styloid process should be considered a possible etiology of dull facial pain in the trigeminal distributions, in particular V3. PMID:23031688

Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report.

PubMed

Hasegawa, Akihiro; Hanaoka, Mieko; Murakoshi, Takeshi

2017-07-01

Lethal multiple pterygium syndrome (LMPS) is a fatal hereditary disease associated with abnormalities such as pterygium-induced congenital contractures. Fetal hydrops is present in more than half of all patients with LMPS, and all patients with LMPS are either stillborn or die in the early neonatal period. Ultrasonography findings for the prenatal diagnosis of LMPS include the detection of cutaneous webbing at multiple joints, multiple joint contractures, absent limb movement, and increased nuchal translucency. Here, we describe a patient who was diagnosed as having LMPS due to continuous fetal head flexion, despite the absence of the usual characteristics of the condition, including pterygium at the joints. Thus, continuous fetal head flexion can be a useful marker for prenatally diagnosing LMPS.

Impingement syndrome of the ankle caused by a medial meniscoid lesion.

PubMed

Egol, K A; Parisien, J S

1997-08-01

Meniscoid lesion of the ankle is a well-described condition involving the anterolateral aspect of the ankle joint. To our knowledge, there are no reports of this condition involving the medial aspect of the ankle in the literature. We present the case of a 27-year-old man with a chronic deltoid ligament rupture who had developed anteromedial impingement syndrome of the ankle. The patient was treated with an arthroscopic debridement of the lesion and experienced a complete recovery.

Lumbar Radiofrequency Rhizotomy in Patients with Chronic Low Back Pain Increases the Diagnosis of Sacroiliac Joint Dysfunction in Subsequent Follow-Up Visits.

PubMed

Rimmalapudi, Varun Kumar; Kumar, Sanjeev

2017-01-01

Chronic back pain is often a result of coexisting pathologies; secondary causes of pain can become more apparent sources of pain once the primary pathology has been addressed. The objective of our study was to determine if there is an increase in diagnosis of Sacroiliac joint pain following a Lumbar Rhizotomy. A list of patients who underwent Lumbar Radiofrequency during a 6-month period in our clinic was generated. Records from subsequent clinic visits were reviewed to determine if a new diagnosis of SI joint pathology was made. In patients who underwent a recent Lumbar Rhizotomy procedure to treat facetogenic pain, the prevalence of Sacroiliac joint pain increased to 70%. We infer that there is a significant increase in the diagnosis of Sacroiliac joint syndrome following a Lumbar Rhizotomy, potentially due to unmasking of a preexisting condition. In patients presenting with persistent back pain after Lumbar Rhizotomy, the clinician must have a high degree of suspicion for latent Sacroiliac joint pain prior to attributing the pain to block failure. It would be prudent to use >80% relief of pain after a diagnostic medial branch block as a diagnostic criterion for facetogenic pain rather than the currently accepted >50% in order to minimize unmasking of preexisting subclinical pain from the SI joint.

Lumbar Radiofrequency Rhizotomy in Patients with Chronic Low Back Pain Increases the Diagnosis of Sacroiliac Joint Dysfunction in Subsequent Follow-Up Visits

PubMed Central

2017-01-01

Chronic back pain is often a result of coexisting pathologies; secondary causes of pain can become more apparent sources of pain once the primary pathology has been addressed. The objective of our study was to determine if there is an increase in diagnosis of Sacroiliac joint pain following a Lumbar Rhizotomy. A list of patients who underwent Lumbar Radiofrequency during a 6-month period in our clinic was generated. Records from subsequent clinic visits were reviewed to determine if a new diagnosis of SI joint pathology was made. In patients who underwent a recent Lumbar Rhizotomy procedure to treat facetogenic pain, the prevalence of Sacroiliac joint pain increased to 70%. We infer that there is a significant increase in the diagnosis of Sacroiliac joint syndrome following a Lumbar Rhizotomy, potentially due to unmasking of a preexisting condition. In patients presenting with persistent back pain after Lumbar Rhizotomy, the clinician must have a high degree of suspicion for latent Sacroiliac joint pain prior to attributing the pain to block failure. It would be prudent to use >80% relief of pain after a diagnostic medial branch block as a diagnostic criterion for facetogenic pain rather than the currently accepted >50% in order to minimize unmasking of preexisting subclinical pain from the SI joint. PMID:28255260

Association between habitual daytime napping and metabolic syndrome: a population-based study.

PubMed

Lin, Diaozhu; Sun, Kan; Li, Feng; Qi, Yiqin; Ren, Meng; Huang, Chulin; Tang, Juying; Xue, Shengneng; Li, Yan; Yan, Li

2014-12-01

Our objective was to evaluate the association between habitual daytime napping and the prevalence of metabolic syndrome. We conducted a population-based study of 8,547 subjects aged 40 years or older. Metabolic syndrome was defined according to a harmonized definition from a joint statement and the recommended thresholds for the Chinese population. Information about sleep duration was self-reported. The prevalence of metabolic syndrome in the no daytime napping group, the 0 to 1 hour daytime napping group and the more than 1 hour daytime napping group were 35.0%, 36.0% and 44.5% among the females (P<0.0001). Increased daytime napping hours were positively associated with parameters of metabolic syndrome in the female subjects, including waist circumference, systolic blood pressure, triglycerides and fasting plasma glucose (P<0.05 for all). Multivariate adjusted logistic regression analysis revealed that, compared to the no habitual daytime napping females, napping for more than 1 hour was independently associated with an increased prevalence of metabolic syndrome (odds ratio 1.39, 95% confidence interval, 1.13-1.72). Compared to the female subjects in the no daytime napping group, those habitually napped for more than 1 hour exhibited 46% and 26% increases in the prevalence of central obesity and hypertriglyceridemia (all P<0.05). No statistically significant associations were detected between daytime napping hours and metabolic syndrome among the male subjects. Daytime napping is associated with an increased prevalence of metabolic syndrome in middle-aged non-obese Chinese women. Copyright © 2014. Published by Elsevier Inc.

RS3PE syndrome developing during the course of probable toxic shock syndrome: a case report.

PubMed

Kyotani, Moe; Kenzaka, Tsuneaki; Nishio, Ryo; Akita, Hozuka

2018-04-13

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare syndrome characterized by "remitting," "seronegative" (namely rheumatoid factor-negative), and "symmetrical" synovitis with pitting edema on the dorsum of the hands and feet. Recently, there have been reports that serum vascular endothelial growth factor (VEGF) is elevated in this condition. An 85-year-old man visited our department with a rash that had appeared 2 days earlier and a fever that had developed on the day of his visit. Based on clinical findings of fever, erythema exudativum multiforme, transitory hypotension, conjunctiva hyperemia, elevated creatine kinase, and desquamation, we suspected toxic shock syndrome (TSS). Therefore, we started treatment with vancomycin (1 g/day) and clindamycin (600 mg/day), after which his fever rapidly remitted. However, pitting edema on the dorsum of his hands and feet appeared on day 7, and the patient also had painful wrist and ankle joints. Additional tests were negative for rheumatoid factor, and anti-cyclic citrullinated protein antibodies were < 0.2 U/mL. Further, serum matrix metalloproteinase-3 (199.6 ng/mL; reference value ≤123.8 ng/mL) and serum VEGF (191 pg/mL; reference value ≤38.3 pg/mL) levels were elevated, and human leukocyte antigen-A2 was detected. The patient was thus diagnosed with RS3PE syndrome, for which he satisfied all four diagnostic criteria: 1) pitting edema in the limbs, 2) acute onset, 3) age ≥ 50 years, and 4) rheumatoid factor negativity. He was treated with oral prednisolone, resulting in the normalization of his serum VEGF level to 34.5 pg/mL 1 month after starting treatment. It is currently 1 year since disease onset, and although the patient has stopped taking prednisolone, there has been no recurrence of RS3PE syndrome. To the best of our knowledge, this is the first reported case of a patient developing RS3PE syndrome during the clinical course of TSS. We propose that the onset

Foot Structure in Boys with Down Syndrome.

PubMed

Puszczałowska-Lizis, Ewa; Nowak, Krzysztof; Omorczyk, Jarosław; Ambroży, Tadeusz; Bujas, Przemysław; Nosiadek, Leszek

2017-01-01

Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS. The feet of boys with DS are flatter compared to their healthy peers. The hallux valgus angle is not the most important feature differentiating the shape of the foot in the boys with DS and their healthy peers. In terms of the V toe setting, healthy boys had poorer results. Specialized therapeutic treatment in individuals with DS should involve exercises to increase the muscle strength around the foot joints, enhancing the stabilization in the joints and proprioception. Introducing orthotics and proper footwear is also important. It is also necessary to monitor the state of the foot in order to modify undertaken therapies.

Foot Structure in Boys with Down Syndrome

PubMed Central

Nowak, Krzysztof; Omorczyk, Jarosław; Ambroży, Tadeusz; Nosiadek, Leszek

2017-01-01

Introduction and Aim Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done. Materials and Methods The podoscopic examination was performed on 30 boys with DS aged 14-15 years. A control group consisted of 30 age- and gender-matched peers without DS. Results The feet of boys with DS are flatter compared to their healthy peers. The hallux valgus angle is not the most important feature differentiating the shape of the foot in the boys with DS and their healthy peers. In terms of the V toe setting, healthy boys had poorer results. Conclusions Specialized therapeutic treatment in individuals with DS should involve exercises to increase the muscle strength around the foot joints, enhancing the stabilization in the joints and proprioception. Introducing orthotics and proper footwear is also important. It is also necessary to monitor the state of the foot in order to modify undertaken therapies. PMID:28904967

Effects of squats accompanied by hip joint adduction on the selective activity of the vastus medialis oblique.

PubMed

Hyong, In Hyouk

2015-06-01

[Purpose] This study evaluated the effective selective activation method of the vastus medialis oblique for knee joint stabilization in patients with patellofemoral pain syndrome. [Subjects and Methods] Fifteen healthy college students (9 males, 6 females); mean age, height, and weight: 22.2 years, 167.8 cm, and 61.4 kg, respectively) participated. The knee angle was held at 60°. Muscle activities were measured once each during an ordinary squat and a squat accompanied by hip joint adduction. The muscle activities of the vastus medialis oblique and vastus lateralis were measured by electromyography for five seconds while maintaining 60° knee flexion. Electromyography signals were obtained at a sampling rate of 1,000 Hz and band pass filtering at 20-50 Hz. The obtained raw root mean square was divided by the maximal voluntary isometric contraction and expressed as a percentage. The selective activity of the vastus medialis oblique was assessed according to the muscle activity ratio of the vastus medialis oblique to the vastus lateralis. [Results] The activity ratio of the vastus medialis oblique was higher during a squat with hip joint adduction than without. [Conclusion] A squat accompanied by hip joint adduction is effective for the selective activation of the vastus medialis oblique.

Novel joint cupping clinical maneuver for ultrasonographic detection of knee joint effusions.

PubMed

Uryasev, Oleg; Joseph, Oliver C; McNamara, John P; Dallas, Apostolos P

2013-11-01

Knee effusions occur due to traumatic and atraumatic causes. Clinical diagnosis currently relies on several provocative techniques to demonstrate knee joint effusions. Portable bedside ultrasonography (US) is becoming an adjunct to diagnosis of effusions. We hypothesized that a US approach with a clinical joint cupping maneuver increases sensitivity in identifying effusions as compared to US alone. Using unembalmed cadaver knees, we injected fluid to create effusions up to 10 mL. Each effusion volume was measured in a lateral transverse location with respect to the patella. For each effusion we applied a joint cupping maneuver from an inferior approach, and re-measured the effusion. With increased volume of saline infusion, the mean depth of effusion on ultrasound imaging increased as well. Using a 2-mm cutoff, we visualized an effusion without the joint cupping maneuver at 2.5 mL and with the joint cupping technique at 1 mL. Mean effusion diameter increased on average 0.26 cm for the joint cupping maneuver as compared to without the maneuver. The effusion depth was statistically different at 2.5 and 7.5 mL (P < .05). Utilizing a joint cupping technique in combination with US is a valuable tool in assessing knee effusions, especially those of subclinical levels. Effusion measurements are complicated by uneven distribution of effusion fluid. A clinical joint cupping maneuver concentrates the fluid in one recess of the joint, increasing the likelihood of fluid detection using US. © 2013 Elsevier Inc. All rights reserved.

Shear fracture of jointed steel plates of bolted joints under impact load