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1.
目的 基于《国际功能、残疾和健康分类》(ICF)构建智力和发展性残疾儿童青少年身体活动效益系统综述的范畴和PICO架构,探讨智力和发展性残疾儿童和青少年参加身体活动的健康效益。 相似文献
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目的 分析轻型/重型新型冠状病毒肺炎(COVID-19)患者的临床特征,探讨心肌型脂肪酸结合蛋白(H-FABP)与COVID-19轻重症的相关性。方法 回顾性分析2022年6月前重庆大学附属三峡医院收治的超敏肌钙蛋白T(hs-cTnT)表达阴性的COVID-19患者40例,根据《新型冠状病毒肺炎诊疗方案(试行第八版)》诊断标准,将患者分为轻型和重型两组,比较两组外周血中H-FABP表达水平差异。结果 符合纳入标准的COVID-19患者共40例,其中轻型组20例,重型组20例,与轻型组相比,重型组年龄更大[(41.9±10.5) vs (58.2±16.3)岁],且合并糖尿病比例更高(P均<0.05)。通过比较两组血清H-FABP表达水平发现,重型组H-FABP水平明显高于轻型组[(3.97±1.80) vs (6.88±3.90) μg/L,P<0.05]。结论 在hs-cTnT表达阴性的COVID-19患者中,血清H-FABP表达水平与COVID-19疾病严重程度相关,H-FABP可能作为一个更加敏感且独立的心肌损伤因子用于COVID-19疾病分型。 相似文献
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Bertrand Isidor Frédéric Ebstein Anna Hurst Marie Vincent Ingrid Bader Natasha L. Rudy Benjamin Cogne Johannes Mayr Anja Brehm Caleb Bupp Kathryn Warren Carlos A. Bacino Amanda Gerard Judith D. Ranells Kay A. Metcalfe Yolande van Bever Yong-Hui Jiang Bryce A. Mendelssohn PaweƗ Stankiewicz 《Genetics in medicine》2022,24(1):179-191
PurposeHaploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.MethodsWe report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status.ResultsThe expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes.ConclusionWe refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature. 相似文献
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《Journal of vascular and interventional radiology : JVIR》2022,33(4):445-450
PurposeTo evaluate the effectiveness and safety of fluoroscopy-guided percutaneous high ligation (FPHL) combined with fluoroscopy-guided foam sclerotherapy (FGFS) to treat varicose veins of the great saphenous veins (GSVs).Materials and MethodsThis was a retrospective study of 113 patients (mean age, 62.1 ± 10.8 years; 60 men) with varicose veins of the GSVs (133 limbs) that were treated with FPHL combined with FGFS between April 1 and October 31, 2019. Demographic and clinical data were collected from these patients before the FPHL procedure, after which FGFS was performed. The preterminal GSV was ligated percutaneously by a percutaneously-positioned polypropylene ligature under fluoroscopic guidance. The outcome of ligation was confirmed by venography. Then, foam sclerotherapy was performed under fluoroscopy. At 1-year follow-up, GSV occlusion was evaluated by ultrasound. The venous clinical severity scores (VCSSs) were compared between the preoperative and 1-year follow-up periods.ResultsThe technical success rate was 100% (133 limbs). Complete 12-month follow-up was available for 112 limbs (84.2%) and 103 of these limbs (92.0%) remained occluded during this period. The VCSS improved from 4.71 ± 2.15 to 0.74 ± 0.60 (V = 6328, P < .001). During follow-up, there were 16 limbs with thrombophlebitis and 38 limbs with saphenous junction pain; these events were alleviated within 2 weeks of the procedure. There was no deep venous thrombosis or other severe adverse events.ConclusionsFPHL combined with FGFS to treat varicose veins in the GSVs achieved an occlusion rate of 92% and improved the clinical symptoms within 1 year; this minimally-invasive procedure was safe and effective. 相似文献
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目的探究老年2型糖尿病(T2DM)并阻塞性睡眠呼吸暂停综合征(OSAS)患者25羟基维生素D[25(OH)D]和血小板参数[平均血小板体积(MPV)和血小板分布宽度(PDW)]变化及与OSAS严重程度的相关性。方法选择2016年10月—2021年10月于宁德师范学院附属宁德市医院诊治的61例老年T2DM合并OSAS患者为观察组,50例单纯T2DM患者为对照组。观察并比较2组基线资料及血25(OH)D、MPV、PDW水平,以及OSAS严重程度不同的患者25(OH)D、MPV和PDW水平,采用Logistic回归模型分析OSAS的影响因素。结果 2组BMI、高血压史、冠心病史、糖化血红蛋白(HbA1c)、高密度脂蛋白胆固醇(HDL-C)和尿酸(UA)差异具有统计学意义(P<0.05);观察组MPV和PDW显著高于对照组(P<0.05),25(OH)D低于对照组(P<0.05);OSAS严重程度不同的患者间25 (OH)D和血小板参数差异具有统计学意义(P<0.05),其中25(OH)D随着OSAS严重程度的增高而降低(P<0.05),MPV、PDW随着OSAS严重程度的增高而上升(P<0.05);Logistic回归分析结果显示,冠心病史、HbA1c、25(OH)D、MPV和PDW是OSAS发生的影响因素(P<0.05)。结论老年T2DM合并OSAS患者MPV和PDW变化呈现上升趋势,25(OH)D呈下降趋势,其水平变化与T2DM合并OSAS发生和病情关系密切。 相似文献
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《Disability and health journal》2022,15(2):101224
BackgroundBefore the COVID-19 pandemic, people with mobility, vision, hearing, and cognitive disabilities were at a higher risk of lower psychosocial well-being than people without disabilities. It is, therefore, of great importance to investigate whether the pandemic has exacerbated this difference.ObjectiveThis study examines whether people with disabilities (categorized as mobility, vision, hearing, cognitive, and any disabilities) report more COVID-19-related negative effects on psychosocial well-being (loneliness, decreased social contact, decreased hope for the future, concerns about being infected) than people without disabilities.MethodsWe analyzed population-based data from the Finnish Health, Welfare, and Services (FinSote) survey carried out in 2020–2021 (N = 22 165, age 20+). Logistic regression models were applied, controlling for the effects of age, sex, partnership, living alone, and education.ResultsAll disability groups, except those with vision disabilities, reported significantly more often that the pandemic increased loneliness than people without disabilities. There were no significant differences between the disability groups and people without disabilities in decreased social contacts. People with only mobility and cognitive disabilities reported significantly more often that the pandemic decreased their hope for the future than those without disabilities. All disability groups were more often concerned about being infected than people without disabilities, but this effect was not significant among people 75 or older.ConclusionThe psychosocial well-being of people with specific types of disabilities should receive special attention during crises like the COVID-19 pandemic. 相似文献
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《Disability and health journal》2022,15(3):101324
BackgroundIn the United States nearly 20% of children ages 12–17 have developmental disorders. Some attain population-based developmental milestones after a delay, or increase functioning through special education, medication, technology, or therapy. Others have severe lasting impairments. An indicator identifying those groups in surveys of adults could help shape policies to improve lives.HypothesesWe hypothesized that survey histories of special education could indicate functional status levels.MethodsData were from the nationally representative Panel Study of Income Dynamics (1997–2017, n = 2745). With measures of diagnoses, behaviors, functional status, service use, and adult outcomes, we tested three special education groups as indicators of: (1) no impairment (no special education), (2) disorders, developmental diagnoses that adversely affect educational performance, but with development after a period of delay or only moderate disability, indicated by transfer from special education; and (3) severe lasting disability, the diagnoses combined with life-long needs for supports or services, with limitations in areas including self-care, mobility, and capacity for independent living, indicated by special education in the individual's final year of school.ResultsAcross the special education groups, from no impairment to severe lasting disability, there were trends of: increasing severe and lasting disability (respectively 4.8%, 35.6%, 76.4%); increasing special services use (13.5%, 43.1%, 83.7%); increasing severe emotional disorders (2.3%, 11.3%, 17.9%); lower percentages attaining at least an associate's degree by age 25 (42.1%, 20.7%, and 8.9%); and more chronic diseases.ConclusionsSpecial education histories provide a useful indicator of developmental disability impairment levels in adults. 相似文献