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101.
《Genetics in medicine》2022,24(12):2422-2433
PurposeWe report the first prospective, international, natural history study of the ultra-rare genetic disorder fibrodysplasia ossificans progressiva (FOP). FOP is characterized by painful, recurrent flare-ups, and disabling, cumulative heterotopic ossification (HO) in soft tissues.MethodsIndividuals aged ≤65 years with classical FOP (ACVR1R206H variant) were assessed at baseline and over 36 months.ResultsIn total, 114 individuals participated; 33 completed the study (mean follow up: 26.8 months). Median age was 15.0 (range: 4-56) years; 54.4% were male. During the study, 82 (71.9%) individuals reported 229 flare-ups (upper back: 17.9%, hip: 14.8%, shoulder: 10.9%). After 84 days, 14 of 52 (26.9%) imaged flare-ups had new HO at the flare-up site (mean new HO volume: 28.8 × 103 mm3). Mean baseline low-dose whole-body computed tomography (excluding head) HO volume was 314.4 × 103 mm3; lowest at 2 to <8 years (68.8 × 103 mm3) and increasing by age (25-65 years: 575.2 × 103 mm3). The mean annualized volume of new HO was 23.6 × 103 mm3/year; highest at 8 to <15 and 15 to <25 years (21.9 × 103 and 41.5 × 103 mm3/year, respectively) and lowest at 25 to 65 years (4.6 × 103 mm3/year).ConclusionResults from individuals receiving standard care for up to 3 years in this natural history study show the debilitating effect and progressive nature of FOP cross-sectionally and longitudinally, with greatest progression during childhood and early adulthood. 相似文献
102.
103.
进行性骨化性纤维增殖不良症(FOP)是一种罕见的、以先天性大足趾畸形和进行性异位骨化为特征的严重致残性疾病。目前尚无疗效确切的治疗方法。近年来,FOP 治疗学研究取得了许多重要进展,本文对此作一综述。 相似文献
104.
《Best Practice & Research: Clinical Rheumatology》2022,36(2):101772
Our aim for this narrative review was to undertake a search of studies into exercise for people living with Idiopathic Inflammatory myopathies (IIM). We explored the strength of existing evidence with a particular consideration for the implications for people living with IIM and what is important to them. The search strategy from the 2021 Cochrane Physical Activity review in neuromuscular disease was used, and we selected articles that included people with IIM, including Dermatomyositis (DM), Inclusion Body Myositis (IBM), Immune Mediated Necrotising Myopathy (IMNM) [also known as necrotizing autoimmune myopathy (NAM)], and Polymyositis (PM). 2967 records were screened and 16 were included in this review. Safety of exercise was demonstrated in nine articles, using a range of measures of disease activity, serum creatine kinase, indicators of inflammation, pain, or fatigue. Two studies that took muscle biopsies showed no evidence of increased inflammation. Aerobic exercise protocols were used in 8 studies across conditions and demonstrated improvements in cardiorespiratory fitness or exercise capacity. Six studies of strength training observed improvements in muscle function, with two studies reporting muscle biopsy results of amplified immune response and up regulation of genes related to recycling of damaged proteins. Nine of 13 studies that measures functional outcomes showed significant improvements, and evidence for behaviour change was observed in a study of a self-management intervention. The evidence of safety and effect of training is reassuring and welcome, and we now need to explore how we support people to incorporate exercise and physical activity longer term into active lifestyles. 相似文献
105.
HYPOTHESIS: Labyrinthitis ossificans results in part from the intense inflammatory response to Streptococcus pneumoniae cell wall components. Depletion of complement in Mongolian gerbils following induction of meningitis will reduce the degree of inflammation and subsequent cochlear fibrosis. STUDY DESIGN: Random prospective study. Histological evaluations were performed with the researcher blinded to the experimental group METHODS: S. pneumoniae meningitis was induced in 10 control and 18 experimental Mongolian gerbils with an intrathecal injection of the bacteria. Both groups of animals received treatment with penicillin. The experimental group was also treated with cobra venom factor to deplete complement in the animals. Three months after the induction of meningitis, the animals' temporal bones were harvested for histological evaluation. RESULTS: The decomplemented animals developed significantly less intracochlear fibrosis (P < .01). The mortality rate for the experimental group was 11% compared with 40% in the control group (P = .14). CONCLUSIONS: Reduction of the intense inflammatory response to the S. pneumoniae cell wall components in suppurative labyrinthitis secondary to bacterial meningitis reduced the degree of labyrinthitis ossificans. 相似文献
106.
Rose Wadenya BDS DMD MS Megan Fulcher DMD Tal Grunwald Burton Nussbaum DDS M SND RCS Ed Zvi Grunwald MD 《Special care in dentistry》2010,30(3):106-109
Fibrodysplasia ossificans progressiva (FOP) is a rare and debilitating genetic disorder of skeletal malformations and progressive heterotopic ossification. Flare‐ups are episodic, with bone formation in skeletal muscle and connective tissue leading to ankylosis of major joints of the axial and appendicular skeleton. This report outlines the management of a patient with FOP who had ankylosis of the temporomandibular joint and progressive ossification of the neck structures. The patient underwent two different surgical and anesthetic procedures within a 10‐year period to manage his oral pain. The authors compare the surgical techniques, osteotomy versus the more conservative buccal approach, anesthesia techniques, and conventional intubation versus sedated fiberoptic intubation. This report emphasizes the importance of a less invasive surgical technique and an appropriate anesthetic management that reduces the risks, cost, and morbidity associated with routine surgical management of patients with FOP. 相似文献
107.
目的探讨高频超声在骨化性肌炎诊断中的作用。方法总结1999~2006年在我院接受高频超声检查并经手术证实为骨化性肌炎患者19例的超声检查情况。结果骨化性肌炎骨化未成熟期声像图表现为不均匀低回声肿块,骨化成熟后,声像图表现为强回声肿块,后方伴声影。结论高频超声在骨化性肌炎诊断中有重要作用,可为临床提供极有价值的诊断依据,具有广阔的临床应用前景。 相似文献
108.
Candace Wu Avinainder Singh Bradley Collins Amber Fatima Arman Qamar Ankur Gupta Jon Hainer Josh Klein Petr Jarolim Marcelo Di Carli Khurram Nasir Deepak L. Bhatt Ron Blankstein 《The American journal of medicine》2018,131(3):284-292.e1
Background
While increased serum troponin levels are often due to myocardial infarction, increased levels may also be found in a variety of other clinical scenarios. Although these causes of troponin elevation have been characterized in several studies in older adults, they have not been well characterized in younger individuals.Methods
We conducted a retrospective review of patients 50 years of age or younger who presented with elevated serum troponin levels to 2 large tertiary care centers between January 2000 and April 2016. Patients with prior known coronary artery disease were excluded. The cause of troponin elevation was adjudicated via review of electronic medical records. All-cause death was determined using the Social Security Administration's death master file.Results
Of the 6081 cases meeting inclusion criteria, 3574 (58.8%) patients had a myocardial infarction, while 2507 (41.2%) had another cause of troponin elevation. Over a median follow-up of 8.7 years, all-cause mortality was higher in patients with nonmyocardial infarction causes of troponin elevation compared with those with myocardial infarction (adjusted hazard ratio [HR] 1.30; 95% confidence interval [CI], 1.15-1.46; P < .001). Specifically, mortality was higher in those with central nervous system pathologies (adjusted HR 2.21; 95% CI, 1.85-2.63; P < .001), nonischemic cardiomyopathies (adjusted HR 1.66; 95% CI, 1.37-2.02; P < .001), and end-stage renal disease (adjusted HR 1.36; 95% CI, 1.07-1.73; P = .013). However, mortality was lower in patients with myocarditis compared with those with an acute myocardial infarction (adjusted HR 0.43; 95% CI:, 0.31-0.59; P < .001).Conclusion
There is a broad differential for troponin elevation in young patients, which differs based on demographic features. Most nonmyocardial infarction causes of troponin elevation are associated with higher all-cause mortality compared with acute myocardial infarction. 相似文献109.
Idiopathic focal myositis is a rare clinical entity and is mostly localized in the neck and thigh muscles presenting as a
pseudotumor. We describe a 49-year-old patient with inflammation restricted to the small muscles of one forefoot. Systemic
disease was not present and progression to polymyositis did not occur within 2 years of follow-up. The myositis improved promptly
after initiation of immunosuppressive therapy with corticosteroids and azathioprine. This unusual location of focal myositis
has not been previously reported.
Received: 28 May 1998 / Accepted: 15 June 1998 相似文献
110.
The pathogenesis of the idiopathic inflammatory myopathies has been postulated to be an environmental trigger causing the expression of the disease in a genetically predisposed patient. We report a case of anti-Jo1 antibody-positive myositis which was associated with pleural effusions, pericardial effusion with tamponade, and mechanics hands, probably related to the consumption of a fermented Kombucha beverage. Kombucha mushroom, a symbiosis of yeast and bacteria, is postulated to be the trigger for our patients disease owing to the proximity of his symptoms to the consumption of the Kombucha beverage.Abbreviations ALT Alanine transferase - AST Aspartate aminotransferase - CPK Creatinine phosphokinase 相似文献