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101.
Joshua W. Cohen Tanya D. Ivanova Brenda Brouwer Kimberly J. Miller Dianne Bryant S. Jayne Garland 《Archives of physical medicine and rehabilitation》2018,99(4):713-719
Objective
To investigate the extent to which physical performance measures of strength, balance, and mobility taken at discharge from inpatient stroke rehabilitation can predict health-related quality of life (HRQoL) and community reintegration after 6 months.Design
Longitudinal study.Setting
University laboratory.Participants
Adults (N=75) recruited within 1 month of discharge home from inpatient stroke rehabilitation.Interventions
Not applicable.Main Outcome Measures
36-Item Short Form Health Survey (SF-36) for HRQoL and Subjective Index of Physical and Social Outcome (SIPSO) for community reintegration. Physical performance measures were the 6-minute walk test, timed Up and Go (TUG) test, Berg Balance Scale, Community Balance and Mobility Scale, and isokinetic torque and power of hip, knee, and ankle on the paretic and nonparetic sides. Other prognostic variables included age, sex, stroke type and location, comorbidities, and motor FIM score.Results
Separate stepwise linear regressions were performed using the SF-36 and SIPSO as dependent variables. The total paretic lower limb torque and 6-minute walk test predicted the SF-36 Physical Component Summary (adjusted R2=.30). The total paretic lower limb torque and TUG test predicted the SIPSO physical component (adjusted R2=.47). The total paretic lower limb torque significantly predicted the SF-36 Mental Component Summary, but the adjusted R2 was low (.06). Similarly, the TUG test significantly predicted the SIPSO social component, but again the adjusted R2 was low (.09).Conclusions
Measures of physical performance including muscle strength and mobility at discharge can partially predict HRQoL and community reintegration 6 months later. Further research is necessary for more accurate predictions. 相似文献102.
Zhongqiu Hong Minghong Sui Zhiqiang Zhuang Huihua Liu Xiuyuan Zheng Chuanping Cai Dongmei Jin 《Archives of physical medicine and rehabilitation》2018,99(5):1011-1022.e1
Objective
To investigate the effectiveness of neuromuscular electrical stimulation (NMES) with or without other interventions in improving lower limb activity after chronic stroke.Data Sources
Electronic databases, including PubMed, EMBase, Cochrane Library, PEDro (Physiotherapy Evidence Database), and PsycINFO, were searched from the inception to January 2017.Study Selection
We selected the randomized controlled trials (RCTs) involving chronic stroke survivors with lower limb dysfunction and comparing NMES or combined with other interventions with a control group of no electrical stimulation treatment.Data Extraction
The primary outcome was defined as lower limb motor function, and the secondary outcomes included gait speed, Berg Balance Scale, timed Up and Go, 6-minute walk test, Modified Ashworth Scale, and range of motion.Data Synthesis
Twenty-one RCTs involving 1481 participants were identified from 5759 retrieved articles. Pooled analysis showed that NMES had a moderate but statistically significant benefit on lower limb motor function (standard mean difference 0.42, 95% confidence interval 0.26–0.58), especially when NMES was combined with other interventions or treatment time within either 6 or 12 weeks. NMES also had significant benefits on gait speed, balance, spasticity, and range of motion but had no significant difference in walking endurance after NMES.Conclusions
NMES combined with or without other interventions has beneficial effects in lower limb motor function in chronic stroke survivors. These data suggest that NMES should be a promising therapy to apply in chronic stroke rehabilitation to improve the capability of lower extremity in performing activities. 相似文献103.
Jenea Bin Jagadeesan Madhavan Walter Ferrini Calvin A. Mok Gail Billingsley Elise Héon 《Human mutation》2009,30(7):E737-E746
Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addition, the role of putative modifier genes on phenotype severity; NXNL1 and MGC1203 c.430C>T, was assessed. Genotype‐phenotype correlation was explored in patients with identified mutations. Four novel pathogenic BBS7 changes were identified in 2/35 families (5.7%). In one family with two affected individuals with BBS7 mutations, a more severe phenotype was observed in association with a third mutation in BBS4. The overall retinal phenotype appeared more severe than that seen in patients with BBS1 mutations. This study confirms the small role of BBS7 and TTC8 in the overall mutational load of BBS patients. The variability of the ocular phenotype observed, could not be explained by the putative modifier genes; NXNL1 and MGC1203 c.430C>T. © 2009 Wiley‐Liss, Inc. 相似文献
104.
105.
Aurélie Gouronc Vincent Zilliox Marie-Line Jacquemont Françoise Darcel Anne-Sophie Leuvrey Elsa Nourisson Manuela Antin Jean-Luc Alessandri Bérénice Doray Paul Gueguen Frédérique Payet Hanitra Randrianaivo Corinne Stoetzel Sophie Scheidecker Hugues Flodrops Hélène Dollfus Jean Muller 《Clinical genetics》2020,98(2):166-171
106.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20–30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction. Photoreceptor function measured with an electroretinogram is markedly reduced or even absent. Optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging show a progressive loss of outer retinal layers and altered lipofuscin distribution in a characteristic pattern. Over the past three decades, a vast number of disease-causing variants in more than 80 genes have been associated with non-syndromic RP. The wide heterogeneity of RP makes it challenging to describe the clinical findings and pathogenesis. In this review, we provide a comprehensive overview of the clinical characteristics of RP specific to genetically defined patient subsets. We supply a unique atlas with color fundus photographs of most RP subtypes, and we discuss the relevant considerations with respect to differential diagnoses. In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes that are affected by pathogenic mutations in these genes. Finally, we review management strategies for patients with RP, including counseling, visual rehabilitation, and current and emerging therapeutic options. 相似文献