更新于：2024-09-19
Spondyloepiphyseal Dysplasia, Omani Type
脊椎骨骺发育不良，Omani型
更新于：2024-09-19
基本信息
别名 CDMD、CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS、CHST3-Related Skeletal Dysplasia + [27] |
简介 A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. |
关联
Hypermobile Online Pain managemEnt (HOPE) for people with hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD): a pilot randomised controlled trial of feasibility, acceptability and effectiveness
Measuring Central Sensitization and Physical Activity in Adolescents With Hypermobility Spectrum Disorder or Hypermobile Ehlers-Danlos Syndrome
Comprehensive Assessment of Nutrition & Dietary Intervention in Hypermobile Ehlers Danlos Syndrome (hEDS/HSD): a Personalised Approach: Phase 2 & 3
100 项与 脊椎骨骺发育不良，Omani型 相关的临床结果
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100 项与 脊椎骨骺发育不良，Omani型 相关的转化医学
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2024-02-26Current opinion in gastroenterology
Mast cell activation and nutritional disorders in patients with hypermobility.
Review
作者: Hugo A Penny ; Imran Aziz ; Ching Lam
PURPOSE OF REVIEW:
Individuals with joint hypermobility disorders are increasingly referred to gastroenterology services for support with the investigation and management of gastrointestinal complaints. Individuals can present with a myriad of complex coexisting diagnoses, the inter-relationship of which is unclear. This review discusses the proposed association between hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD) with disorders of mast cell activation and provides an overview of gastrointestinal symptoms and nutritional outcomes in this patient cohort.
RECENT FINDINGS:
It is unclear whether a true association between hEDS/HSD and mast cell activation disorders exists. There is a high prevalence of nonspecific gastrointestinal symptoms in individuals with hEDS/HSD and patients may be at risk of macro-nutrient and micro-nutrient deficiencies, although the current evidence base is limited.
SUMMARY:
We advocate a pragmatic approach to the investigation and management of gastrointestinal symptoms in patients with hEDS/HSD. This centres on excluding organic pathology, discussing the overlap with disorders of gut-brain interactions, trialling evidence-based therapies targeting individual symptoms, and supporting nutritional deficiencies where present via the least invasive approach. Engagement with a broad multidisciplinary team is also important to support the holistic needs of this patient cohort.
2024-02-19The Science of the total environment
Nanoplastics and chrysene pollution: Potential new triggers for nonalcoholic fatty liver disease and hepatitis, insights from juvenile Siniperca chuatsi.
Article
作者: Tiantian Chen ; Hewei Jiang ; Yaoji He ; Yawei Shen ; Zequn Huang ; Yifeng Gu ; Qun Wei ; Jinliang Zhao ; Xiaowu Chen
Nanopolystyrene (NP) and chrysene (CHR) are ubiquitous contaminants in the natural environment; however, research on their hepatotoxicity and associated adverse effects remains relatively inadequate. The present study aimed to investigate the hepatotoxic effects of NP and/or CHR at environmentally relevant concentrations, as well as the underlying molecular mechanisms, in juvenile Siniperca chuatsi (mandarin fish). After a 21-day exposure period, the livers of exposed S. chuatsi exhibited macrostructural and microstructural damage accompanied by oxidative stress. Importantly, our study provides the first evidence that NP exposure leads to the development of nonalcoholic fatty liver disease (NAFLD) and hepatitis in S. chuatsi. Similarly, CHR exposure has also been found, for the first time, to cause hepatic sinusoidal dilatation (HSD) and hepatitis. Exposure to the combination of NP and CHR alleviated the symptoms of NAFLD, HSD, and hepatitis. Furthermore, our comprehensive multi-omic analysis revealed that the pathogenesis of NP-induced NAFLD was mainly due to induction of the triglyceride synthesis pathway and inhibition of the very-low-density lipoprotein secretion process. CHR induced HSD primarily through a reduction in vasoprotective ability and smooth muscle contractility. Hepatitis was induced by activation of the JAK-STAT/NF-kappa B signaling pathways, which upregulated the expression of inflammation-specific genes. Collectively, results of this study offer novel insight into the multiple hepatotoxicity endpoints of NP and/or CHR exposure at environmentally relevant concentrations in organisms, and highlight the importance of nanoplastic/CHR pollution for liver health.
2024-02-14Disability and rehabilitation
Integrative medicine for hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS): a feasibility study.
Article
作者: Sara E Guedry ; Blake O Langley ; Kerry Schaefer ; Douglas A Hanes
PURPOSE:
Hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS) are multisystem conditions marked by dysfunctional connective tissue. This feasibility study evaluated a 9-week integrative medicine program in this population.
METHODS:
Using a single-arm study design, adults with HSD or EDS were given recommendations for an anti-inflammatory Mediterranean diet and self-management with additional behavioral and psychosocial support. Preliminary data on feasibility based on recruitment and retention, adherence to the diet, mobile app tracking, changes to perceived well-being via health outcomes, and satisfaction with care were obtained.
RESULTS:
Thirteen participants were enrolled within a 4-month timeframe. Eight participants completed the study. Three participants met dietary tracking requirement in at least 4 of 8 intervention weeks and met the macronutrient requirements in at least half of the weeks tracked. No decreases in VAS pain scores after 5 and 9 weeks were noted; however, 62.5% (n = 5) of participants had decreased pain at 9 weeks, compared to baseline. There were significant improvements (p<.05) in six of twelve measurements of satisfaction with care at the end of the intervention.
CONCLUSION:
This study provides a foundation for future research on patient experience and introduces a novel treatment paradigm focused on nutrition and self-management.
Trial Registration: National Institutes of Health clinicaltrials.gov; identifier: NCT04734041.
Implications for rehabilitationLifestyle and dietary interventions are relatively safe and well tolerated in the hypermobility spectrum disorder (HSD) and Ehlers-Danlos disorder (EDS) population.Participants in our 9-week integrative medicine program actively engaged in self-management of their condition and showed promising adherence to dietary and tracking requirements.Effective treatment of the intricacies and dynamics of these highly variable and clinically heterogeneous disorders may require a network of healthcare providers, integrative healthcare, as well as behavioral and psychosocial support.Dietary tracking through mobile apps might help promote self-efficacy and adherence to dietary changes.Symptom tracking might be an effective way for patients to track changes to their health and could provide valuable information for health professionals engaged in managing the disorders.
分析
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