- Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. [Journal Article]Orphanet J Rare Dis 2019; 14(1):219OJ
- CONCLUSIONS: On average, it was possible to prolong the intervals between drug administrations and to reduce the total dose about by 25% without a decrease of mobility or change of vertebral shape despite a reduction of lumbar aBMD during 1 year of biomarker-directed Denosumab treatment. Further trials are necessary to balance side effects and highest efficacy in children.
- A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. [Journal Article]Medicine (Baltimore) 2019; 98(37):e17138M
- CONCLUSIONS: Our findings suggested that COL5A2 gene mutation (c1997G > A p.P659P) may be associated with cEDS but did not reveal other severe complications.
- Neuromuscular activation differences during gait in patients with Ehlers-Danlos syndrome and healthy adults. [Journal Article]Arthritis Care Res (Hoboken) 2019AC
- CONCLUSIONS: Alterations in muscle activation and spatiotemporal parameters during gait in patients with EDS may be a result impaired proprioception and balance, and muscle weakness. Interventions should target these deficits.
- Transperineal Ultrasound Assessment of a Cystocele's Impact on the Bladder Neck Mobility in Women with Stress Urinary Incontinence. [Journal Article]Medicina (Kaunas) 2019; 55(9)M
- CONCLUSIONS: The presence of a cystocele had no significant impact on the bladder neck mobility measurements in patients with SUI. The heaviest newborn's birth weight positively correlated with bladder neck hypermobility, as quantified by SPBN.
- High level rhythmic gymnasts and urinary incontinence; prevalence, risk factors and influence on performance. [Journal Article]Scand J Med Sci Sports 2019SJ
- Urinary incontinence (UI) is common among exercising women, but no studies have been found in rhythmic gymnasts. The aims of the present study were to investigate the prevalence and risk factors for UI in rhythmic gymnasts and the impact of UI on performance. This was a cross-sectional study including all rhythmic gymnasts competing at the highest national and international level in Norway. One-h…
Urinary incontinence (UI) is common among exercising women, but no studies have been found in rhythmic gymnasts. The aims of the present study were to investigate the prevalence and risk factors for UI in rhythmic gymnasts and the impact of UI on performance. This was a cross-sectional study including all rhythmic gymnasts competing at the highest national and international level in Norway. One-hundred and thirty-three gymnasts from 22 sport clubs were invited to participate. Background data and possible risk factors were collected via electronic questionnaires. UI was assessed by Urinary Incontinence short form (ICIQ-UI SF). The "Triad-specific self-report questionnaire" was applied to assess the female athlete triad. Joint mobility was assessed by Beighton score. Logistic regression analysis was used to assess possible risk factors. One hundred and seven nulliparous rhythmic gymnasts (80.5% response rate) from 21 sport clubs, mean age 14.5 (SD 1.6) years, participated in the study. Thirty-four (31.8%) reported UI with 21 (61.8%), 3 (8.8%), 6 (17.6%) and 4 (11.8%) reporting stress, urgency, mixed urinary incontinence and leakage for no obvious reason, respectively. BMI, hypermobility, menarche, disordered eating and hours of training were not found to be risk factors for stress urinary incontinence. Twenty-four gymnasts with UI (70.6%) reported incontinence to influence sport performance; 10 (29.4%) reported to be afraid of visible leakage and 5 (14.7%) that the leakage would happen again. Seventy-four (69.1%) had never heard about the pelvic floor. In conclusion, UI is common in rhythmic gymnasts and may influence sport performance. This article is protected by copyright. All rights reserved.
- Appropriateness of referrals to a urogynecology practice. [Journal Article]Int Urogynecol J 2019IU
- CONCLUSIONS: Age, anti-cholinergic medication use, referrer source and specialty are pre-initial visit predictors of urogynecology referral appropriateness. The predictor-generated model was successful in predicting referral appropriateness. Potential bias from information transfer issues, lack of pre-referral evaluation and referring provider unfamiliarity with urogynecology are possible reasons for inappropriate referrals and potential areas for improvement.
- Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. [Journal Article]Biol Pharm Bull 2019; 42(9):1596-1599BP
- Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationshi…
Joint hypermobility syndrome (JHS) (also termed hypermobility type Ehlers-Danlos syndrome, hEDS) is a heritable connective tissue disorder that is characterized by generalized joint hypermobility, chronic pain, fatigue, and minor skin changes. Initially, it was reported that there is a small subset of patients with JHS/hEDS who have haploinsufficiency of tenascin-X (TNX). However, the relationship between TNXB and JHS/hEDS has not been reported at all afterwards. EDS was reclassified into thirteen types in 2017, and the causative gene of JHS/hEDS remained to be identified. Therefore, in this study in order to determine whether JHS/hEDS can be diagnosed by the concentrations of serum form of TNX (sTNX), we measured the concentrations of sTNX in 17 JHS/hEDS patients. The sTNX concentrations in half of the JHS/hEDS patients were significantly lower than those in healthy individuals. No mutations, insertions or deletions were detected in the TNX exon sequence of the JHS/hEDS patients except for one in patient. That patient has a heterozygous mutation. A correlation between sTNX concentration and mutation of the TNXB genomic sequence was not found in the JHS/hEDS patients. These results indicate that the decrease in sTNX concentration could be used as a risk factor for JHS/hEDS.
- Floppy Glans-Classification, Diagnosis and Treatment. [Review]Sex Med Rev 2019SM
- CONCLUSIONS: Understanding the different glans abnormalities and unified terminology is crucial for optimization of the treatment. Medical therapy can always be tried before revision surgery, as long as it is safe for the patient and function of the implant. The accuracy of the position and size of the implant should always be thoroughly assessed before a diagnosis of the real glans hypermobility is made and treatment provided. Skrodzka M, Heffernan Ho D, Ralph D. Floppy Glans-Classification, Diagnosis And Treatment.
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. [Journal Article]Biol Psychiatry 2019BP
- CONCLUSIONS: Our data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.
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- Central fatigue is greater than peripheral fatigue in people with joint hypermobility syndrome. [Journal Article]J Electromyogr Kinesiol 2019; 48:197-204JE
- CONCLUSIONS: JHS participants suffered central but not peripheral fatigue. A modified strength programme to target this is discussed.