Search

Objectives Human Disabled-2 ( Dab2), a putative tumor suppressor gene, is frequently down-regulated in human tumors. This study aims to explore the association between Dab2 methylation status and expression in newly diagnosed myelodysplastic syndrome ( MDS) patients and patients who received 5-aza-2′-deoxycytidine (decitabine) treatment, so as to determine the effect of Dab2 in the pathogenesis of MDS. Methods Methylation-specific polymerase chain reaction and bisulfite sequencing were used to detect the methylation status of Dab2 gene. Dab2 expression was investigated by using fluorescence quantitation RT- PCR ( FQRT- PCR) and western blot analysis. Results Hypermethylation of Dab2 gene was present in 50.6% of patients with MDS and was significantly correlated with the down-regulation of Dab2 mRNA and protein expression. There was a significant difference in methylation frequency between refractory anemia/refractory anemia with ringed sideroblasts/ MDS associated with isolated del (5q) ( RA/RARS/5q-) group (33.3%) and refractory anemia with excess blasts-1/-2 ( RAEB-1/ RAEB-2) group (73.3%). Significant difference was also observed between refractory cytopenia with multiline dysplasia group (37.8%) and RAEB-1/ RAEB-2 group. In addition, higher frequency of hypermethylation was observed in intermediate-2-/high-risk group, compared to low-risk/intermediate-1-risk group (75.0% vs. 40.0%). Demethylating agent 5-aza-2′-deoxycytidine treatment could partly reverse hypermethylation and, hence, restore the expression of Dab2 gene. Conclusions The Dab2 gene is inactivated in MDS in part by DNA methylation, and the suppression of Dab2 expression by DNA methylation may play a role in the development of MDS. [ABSTRACT FROM AUTHOR]

Objective This study sought to examine long-term health, symptom, and disability outcomes among patients with chronic fatigue syndrome (CFS) by comparing those diagnosed with CFS 25 years ago with healthy controls. Method Of the 25 participants diagnosed with CFS 25 years ago, 5 self-reported that they maintained a diagnosis of CFS, while 20 reported no longer having a diagnosis. These two groups were compared with healthy controls on outcomes related to functioning and symptom severity. Results Those who remitted from CFS showed significantly more impairment on 21 out of 23 outcomes compared with controls. On 17 outcomes, those who remitted had nonsignificant differences in impairment compared to those who maintained a CFS diagnosis. Conclusions Findings from this study suggest that over time many individuals will not maintain a CFS diagnosis but will not return to their premorbid level of functioning. [ABSTRACT FROM AUTHOR]

Background: Little is known about the way people with aphasia perceive their social participation and its influencing factors. Aims: To explore how people with aphasia perceive participation in society and to investigate influencing factors. Methods & Procedures: In this qualitative study thirteen persons with aphasia and twelve central caregivers kept a pre-structured diary over two weeks, followed by a semi-structured interview. Diaries and interviews were transcribed verbatim and analysed by two researchers independently using codes, categories and central themes inductively. Plausibility of the analyses was discussed several times with a third independent senior-researcher. In a focus group interview, the results were discussed with the participants. Outcomes & Results: The number of social activities and the character of these activities are not as important as the perceived engagement in the social activities for the participants. People with aphasia feel isolated but want to feel engaged. They feel burdensome to others and wish to function in an ordinary way. Extracting information from conversations is difficult but they want to know what is going on. Often they are not able to work and they wish to contribute to the community in other ways. Although they often feel stigmatized, they wish to be respected. Often they do not reach that goal. Perceived factors influencing engagement in social participation can be divided into personal, social and environmental factors. The following personal factors are reported: motivation, physical and psychological condition and communication skills. The social factors are: the role of the central caregiver and the characteristics of the communication partner(s), namely willingness, skills and knowledge. The environmental factors refer to quietness and familiarity of the place in which the person with aphasia live. Conclusions: Social participation is a theoretical concept that people with aphasia do not use. Instead, people speak in terms of engagement, involvement, having a feeling of belonging. People with aphasia describe the degree of engagement in activities in social life domains (i.e. the quality of activities) as more important than the quantity of performing activities. [ABSTRACT FROM AUTHOR]

In the last few years, experimental data have been reported on differences in implicit memory processes of genetically distinct groups of individuals with Intellectual Disability (ID). These evidences are relevant for the more general debate on supposed asynchrony of cognitive maturation in children with abnormal brain development. This study, comparing implicit memory processes in individuals with Williams syndrome (WS) and Down syndrome (DS), was planned to verify the ‘etiological specificity' hypotheses pertaining to the skill learning abilities of individuals with ID. A modified version of Nissen and Bullemer's (1987) Serial Reaction Time (SRT) task was used. The performances of three group were evaluated. The first group consisted of thirty-two people with WS (18 males and 14 females). The second group was comprised of twenty-six individuals with DS (14 males and 12 females). The two groups of individuals with ID were selected so that the groups were comparable as for mental age and chronological age. The third group consisted of forty-nine typically developed children with a mental age similar to that of the groups with WS and DS. The two groups of individuals with ID demonstrated different patterns of procedural learning. WS individuals revealed poor implicit learning of the temporal sequence of events characterizing the ordered blocks in the SRT task. Indeed, differently from normal controls, WS participants showed no reaction time (RT) speeding through ordered blocks. Most importantly, the rebound effect, which so dramatically affected normal children's RTs passing from the last ordered to the last block, had only a marginal influence on WS children's RTs. Differently from the WS group, the rate of procedural learning of the participants with DS was comparable to that of their controls. Indeed, DS and typically developed individuals showed parallel RT variations in the series of ordered blocks and, more importantly, passing from the last ordered to [ABSTRACT FROM AUTHOR]