Exploration of the cognitive,adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome

The aim of the study was to investigate the behavioral phenotype of patients affected with Bardet–Biedl syndrome (BBS). Twenty‐four patients with molecularly confirmed diagnosis of BBS (6–38 years old) were evaluated using standardized neuropsychological tests. Results were compared with normative data. The mean intellectual functioning of participants fell 1.5 standard deviations below normal expectations; though, the majority of participants (75–80%) did not display an intellectual disability. The group's mean performance on most cognitive tasks and all scales of adaptive functioning was significantly weaker than norms. The majority (55–60%) of participants displayed broadly average verbal fluency and auditory rote learning, while 22–40% were severely impaired in the same areas. The majority of participants were severely impaired in perceptual reasoning (53%), attentional capacity (69%), and functional independence (74%). Symptoms associated with Autism were reported for 77% of participants. Behavioral issues were unrelated to intellectual ability but significantly correlated with adaptive functioning. This first neurocognitive evaluation of a molecularly confirmed cohort of BBS patients shows that the majority of patients experience significant difficulties with perceptual intellectual abilities, auditory attentional capacity, adaptive independence, and behavior. The frequency of autism‐related symptoms far exceeds the incidence rate of diagnosed autism in general and warrants further investigations.     

The Efficacy of Lower Extremity Mirror Therapy for Improving Balance,Gait, and Motor Function Poststroke: A Systematic Review and Meta-Analysis

Background

Mirror therapy is less commonly used to target the lower extremity after stroke to improve outcomes but is simple to perform. This review and meta-analysis aimed to evaluate the efficacy of lower extremity mirror therapy in improving balance, gait, and motor function for individuals with stroke.

网络教学论坛在人体解剖学教学中实践

观察和分析学生使用网络教学论坛的情况,明确网络教学论坛在人体解剖学教学中的作用.选取大学一年级学生为考察对象,依托BB网络教学平台,考察他们在网络教学论坛上的浏览情况与发帖情况,并分析其与考试成绩的相关性.结果显示,网络教学论坛的浏览数和发帖数与考试成绩呈正相关,但是相关性不高.综合分析可以得出充分利用网络教学论坛能进一步提高人体解剖学的教学质量.     

Examining the Function In Sitting Test for Validity,Responsiveness, and Minimal Clinically Important Difference in Inpatient Rehabilitation

ObjectivesTo determine the responsiveness of the Function In Sitting Test (FIST), compare scores at admission and discharge from inpatient rehabilitation (IPR) with other balance and function measures, and determine the minimal clinically important difference (MCID).DesignProspective, nonblinded, reference-standard comparison study.SettingFour accredited inpatient rehabilitation units.ParticipantsPopulation-based sample of adults (N=125) with sitting balance dysfunction, excluding persons with spinal cord injury, significant bracing/orthotics, and inability to perform testing safely.InterventionsNot applicable.Main Outcome MeasuresFIST, FIM, and Berg Balance Scale (BBS) at admission and discharge, and Global Rating of Change for function and balance at discharge.ResultsThe FIST demonstrated good to excellent concurrent validity with the BBS and FIM at admission and discharge (Spearman ρ=.71–.85). Significant improvement (P<.000; 95% confidence interval [CI], 10.73–15.41) occurred in the FIST from admission (mean ± SD: 36.81±15.53) to discharge (mean ± SD: 49.88±6.90). The standard error of measurement for the FIST was 1.40, resulting in a minimal detectable change of 5.5 points. The receiver operator characteristic curve differentiated participants with meaningful balance changes (area under the curve, .78; P>.000; 95% CI, .66–.91), with a change in FIST score of ≥6.5 points designating the MCID. Findings support the strong responsiveness of the FIST during IPR as evidenced by the large effect size (.83), standardized response mean (1.04), and index of responsiveness (1.07).ConclusionsIn this study, the FIST correlated well with balance and function measures (concurrent validity) and was responsive to change during IPR. A clinically meaningful change was indicated by an increase in score of ≥6.5 points.     

Multi-session anodal tDCS enhances the effects of postural training on balance and postural stability in older adults with high fall risk: Primary motor cortex versus cerebellar stimulation

Background

Postural control impairment is a key target for rehabilitation of older adults with high fall risk.

Detection of IgA class circulating immune complexes bound to anti-C3d antibody in patients with IgA nephropathy

IgA class circulating immune complexes (CIC) were detected by solid-phase fluorescent enzyme immunoassay of F(ab')2 anti-C3d antibody in the serum of 52 patients with IgA nephropathy. Conglutinin (Kg) binding IgA class CIC were also measured, and results by these assays were compared. Kg binding IgA class CIC and anti-C3d binding IgA class CIC were detected in 27% and 44%, respectively, of the patients with IgA nephropathy. Either or both of the two were found in 65% of the patients. There was no significant correlation between IgA class CIC detected by these methods and serum IgA. Although all samples with a very high level of anti-C3d binding IgA class CIC did not also have a very high level of Kg binding IgA class CIC, there was a slight quantitative correlation between the 2 assays. Ultracentrifugation analysis showed that anti-C3d binding IgA class CIC were of various sizes between polymeric (21 S) and monomeric IgA (7 S), whereas Kg binding IgA class CIC were mostly monomeric IgA (8 S) with a minor component of heavy fractions (14 S). Both IgA class CIC fixed iC3b and IgA class CIC fixed C3d are present in IgA nephropathy. These observations suggest that the different types of complement bound to IgA class CIC have different roles in IgA nephropathy.     

Rapid screening of monoclonal antibodies: new ''microstick'' radioimmunoassay

A semi-automation of fluid phase double antibody radioimmunoassay has been developed. The immune precipitate that was formed in 96-well microtitration plates was harvested and washed on microfibre filters using a Titertek cell harvester. A disc transfer system originally designed for use with the harvester was used as a quick and easy method of transferring the filter discs containing immune precipitate into vials for counting. The results of radioimmunoassay using the microtitration plate-filtration and conventional tube-centrifugation method are essentially identical. The microtitration plate-filtration radioimmunoassay has the following advantages over the conventional tube-centrifugation method: (1) there is no centrifugation required; (2) handling of microtitration plate is easier than the tubes in racks; and (3) it requires much less time to perform the assay.     

The polypeptide structure of the Sm and RNP nuclear antigens

Sm and nuclear ribonucleoprotein are ubiquitous nuclear antigens towards which important autoantibodies are directed in systemic lupus erythematosus and other human autoimmune syndromes. Using physicochemical techniques and affinity adsorptions, we have purified the polypeptide components of these antigens. The Sm antigen contained polypeptide chains of 15,000 and 17,000 mol. wt. The RNP antigen, which is known by immunochemical techniques to contain the Sm antigen, had the same two polypeptides as well as a larger one of 85,000 mol. wt. This larger peptide was quite labile and apparently broke down into smaller components with manipulation. In addition, the process of affinity purification of the Sm polypeptides gave a product which had increased positive charge. Amino acid analysis of the Sm polypeptides confirmed the presence of relatively large numbers of basic residues. The purified Sm antigen provided an effective reagent for the investigation of autoreactivity to Sm. The differences in structure from our results and those published by others are probably accounted for by the lability of the constituent polypeptides.