Gait analysis in Down syndrome pediatric patients using a sheet-type gait analyzer: Pilot study.

BACKGROUND: Children with Down syndrome (DS), who are likely to suffer from a large number of musculoskeletal problems, tend to have a unique pattern of walking in clinical settings. Despite such apparent uniqueness, few studies have empirically investigated gait development pattern in DS children, especially at an earlier age. We therefore conducted gait analysis in young DS children who are prescribed insoles, to explore how their gait patterns develop, using the gait parameters identified by Sutherland et al. as determinants of gait maturity of typical children. METHODS: Participants consisted of 63 DS children (31 boys) aged 1-6 years (mean, 4 years 1 month) with a diagnosis of flat feet who were prescribed orthotic insoles. A 2.4 m sheet-type gait analyzer was used to analyze gait pattern. We measured the following variables: walking velocity (cm/min), cadence (steps/min), step length (cm), and single-limb stance phase ratio (%), and examined their relationship with age on regression analysis. RESULTS: Walking velocity and step length were significantly and positively related to age. Cadence was also significantly, but negatively associated with age. In contrast, SLS phase ratio did not have a statistically significant relationship with age. CONCLUSION: Down syndrome children have unique gait development patterns. Although walking velocity, cadence, and step length were found to develop with age, as in typical children, SLS phase ratio did not change with age in DS children. Further studies with a larger sample are necessary to replicate these findings.

Assessment of feeding and swallowing in children: validity and reliability of the Ability for Basic Feeding and Swallowing Scale for Children (ABFS-C).

OBJECTIVE: The purpose was to devise a dysphagia scale for disabled children that could be applied by various medical professionals, family members, and personnel in treatment and education institutions and facilities for disabled children and to assess the validity and reliability of that scale, "Ability for Basic Feeding and Swallowing Scale for Children" (ABFS-C). METHODS: Subjects were 54 children (aged 2months to 14years and 7months, median 14months) who visited the National Center for Child Health and Development from January 2012 to December 2013. They were examined using the Fujishima's Grade of Feeding and Swallowing Ability (Fujishima's Grade), the Functional Independence Measure for Children (WeeFIM) and the ABFS-C composed of 5 items (wakefulness, head control, hypersensitivity, oral motor and saliva control). Validity was evaluated according to correlations of the ABFS-C with Fujishima's Grade or WeeFIM. To assess interrater reliability, 17 children were assessed by a doctor and occupational therapist independently. RESULTS: The ABFS-C scores and Fujishima's Grade were correlated using Spearman rank correlation coefficients. Fujishima's Grade was significantly correlated with saliva control (R=0.470) and the total ABFS-C scores (R=0.322) but not with wakefulness (R=-0.014), head control (R=0.122), hypersensitivity (R=-0.009), or oral motor (R=0.139). In addition, the total ABFS-C scores had a significant correlation with the total score of the WeeFIM (R=0.562), motor WeeFIM (R=0.451), cognitive WeeFIM (R=0,478), and the eating subscore of the WeeFIM (R=0.460). Interrater reliability was demonstrated for all items except hypersensitivity. CONCLUSIONS: There were significant correlations between the total ABFS-C scores and Fujishima's Grade and WeeFIM, which suggested the need for comprehensive assessments rather than assessments of individual feeding and swallowing functions. To improve the reliability for hypersensitivity, the assessment process for hypersensitivity should be reviewed.

Chronic academic stress increases a group of microRNAs in peripheral blood.

MicroRNAs (miRNAs) play key roles in regulation of cellular processes in response to changes in environment. In this study, we examined alterations in miRNA profiles in peripheral blood from 25 male medical students two months and two days before the National Examination for Medical Practitioners. Blood obtained one month after the examination were used as baseline controls. Levels of seven miRNAs (miR-16, -20b, -26b, -29a, -126, -144 and -144*) were significantly elevated during the pre-examination period in association with significant down-regulation of their target mRNAs (WNT4, CCM2, MAK, and FGFR1 mRNAs) two days before the examination. State anxiety assessed two months before the examination was positively and negatively correlated with miR-16 and its target WNT4 mRNA levels, respectively. Fold changes in miR-16 levels from two days before to one month after the examination were inversely correlated with those in WNT4 mRNA levels over the same time points. We also confirmed the interaction between miR-16 and WNT4 3'UTR in HEK293T cells overexpressing FLAG-tagged WNT4 3'UTR and miR-16. Thus, a distinct group of miRNAs in periheral blood may participate in the integrated response to chronic academic stress in healthy young men.

Ets1 and heat shock factor 1 regulate transcription of the Transformer 2ß gene in human colon cancer cells.

BACKGROUND: Transformer (Tra) 2ß is a member of the serine/arginine-rich (SR)-like protein family that regulates alternative splicing of numerous genes in a concentration-dependent manner. Several types of cancer cells up-regulate Tra2ß expression, while the regulatory mechanism of Tra2ß expression remains to be elucidated. In this study, we examined the transcriptional regulation and possible functions of Tra2ß in human colon cancer cells. METHODS: We cloned 959 bp-upstream of the human TRA2ß 5'-flank into luciferase constructs. Chromatin immunoprecipitation (ChIP) was employed to identify crucial cis element(s) and trans activator(s) of the TRA2ß promoter. Tra2ß expression in the human colon and colon cancer tissues was examined by immunohistochemistry. RESULTS: In response to sodium arsenite, colon cancer cells (HCT116) increased levels of TRA2ß1 mRNA encoding a functional, full-length Tra2ß with a peak around 6 h without changing its mRNA stability. Transient expression assays using a reporter gene driven by serially truncated TRA2ß promoters and Chip assay demonstrated that an Ets1-binding site present at -64 to -55 bp was crucial for basal transcription, while three heat shock elements (HSEs) located at -145 to -99 bp mediated the oxidant-induced transactivation of TRA2ß. Tra2ß knockdown caused apoptosis of HCT116 cells. Tra2ß were preferentially expressed in proliferative compartment of normal human colonic glands and adenocarcinomas, where Ets1 and heat shock factor 1 were also highly expressed. CONCLUSIONS: Our results suggest that oxidative stress-responsive Tra2ß may play an important role in colon cancer growth.

Evaluation of ability for basic movement scale for children type T (ABMS-CT) for disabled children.

BACKGROUND: The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children Type T (ABMS-CT). METHODS: Forty-nine pediatric patients with disabilities (aged 1.00-15.17years; 29 males and 20 females) participated in this prospective study. To prove the validity and reliability of the ABMS-CT, subjects were administered the ABMS-CT by two physicians. In addition to the ABMS-CT score, data on age, diagnosis, and results of the Functional Independence Measure for Children (WeeFIM) were recorded. RESULTS: Spearman's rank correlation coefficient analysis showed that the ability to perform basic movements according to the individual scores for each item on the ABMS-CT and the total scores of the ABMS-CT correlated significantly with the total scores of the motor and cognitive WeeFIM, respectively (r=0.753-0.892, p=0.0001). The five items on the ABMS-CT had appropriate internal consistency (Cronbach's α=0.966). Inter-rater reliability analysis indicated that the "oral and facial area", "hands and fingers", "one leg", "both legs", and "stairs" items on the ABMS-CT had almost perfect reliability (κ=0.854-0.925). CONCLUSION: This study provides evidence for the validity and reliability of the ABMS-CT with regard to assessment of the functional ability for complex movements in disabled pediatric patients even if they can walk independently.

[Efficacy of botulinum toxin type A against cervical dystonia and muscular hypertonia in persons with severe motor and intellectual disabilities with respiratory problems and/or dysphagia].

We administered intramuscular injections of botulinum toxin type A (BTX-A) in 11 persons with cervical dystonia (CD) and muscular hypertonia (MH). All patients had severe motor and intellectual disabilities (SMID). Furthermore, in 10 patients, SMID was accompanied by respiratory problems and/or dysphagia. Three patients received night nasal intermittent positive pressure ventilation and 3 had undergone tracheotomy; 5 patients had upper respiratory problems. Because of these complications, BTX-A dose was gradually increased in those patients until the desired effect was obtained (mean last dose, 6.8 u/kg/dose). All patients were clinically assessed with the Tsui scale before treatment with BTX-A. At 1, 2, 4, and 8 weeks after BTX-A injections, responses to the injections were assessed with the Tsui scale repetitively in all patients. Significant or mild improvements in the Tsui scale scores were observed in 8 patients without any severe adverse effects. In addition, some improvements in respiration and body weight gain were observed. We observed a reduction in the number of oral medications in 10 cases. Administration of BTX-A for the treatment of SMID has numerous benefits, not all of which can be explained by Tsui scale scores. BTX-A is safe and has potential for use in the treatment of CD and MH with respiratory problems and/or dysphagia.

Validity and reliability of Ability for Basic Movement Scale for Children (ABMS-C) in disabled pediatric patients.

The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliability of the ABMS-C, subjects were administered the ABMS-C at a 2-week interval. In addition to the ABMS-C score, data on age, diagnosis, and results of the Gross Motor Function Classification System (GMFCS) were recorded. Spearman's rank correlation coefficient analysis showed that the ability to perform basic movements according to the scores for each item and the total scores of the ABMS-C correlated significantly with the levels of the GMFCS (r=-0.628-0.784, p<0.001). The five items on the ABMS-C had appropriate internal consistency (Cronbach's α=0.944). Test-retest reliability analysis indicated that the "head control", "sitting", "locomotion on flat surface", "standing" and "walking" items on the ABMS-C had almost perfect reliability (κ=0.865-1.000). This study provides evidence for the validity and reliability of the ABMS-C with regard to assessment of functional ability in disabled pediatric patients.