Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chromosome 15, or imprinting defect (ID). Mutation of the UBE3A gene causes approximately 10% of AS cases. In this present study, we describe the molecular analysis and phenotypes of two PWS patients and four AS patients with ID. One of the PWS patients has a non-familial imprinting center (IC) deletion and displayed a severe phenotype with an atypical PWS appearance, hyperactivity and psychiatric vulnerability. The other PWS and AS patients did not present genetic abnormalities in the IC, suggesting an epimutation as the genetic cause. The methylation pattern of two AS patients showed a faint maternal band corresponding to a mosaic ID. One of these mosaic patients displayed a mild AS phenotype while the other displayed a PWS-like phenotype.     

Histological and Genotoxic Biomarkers in <Emphasis Type="Italic">Prochilodus lacustris</Emphasis> (Pisces,Prochilodontidae) for Environmental Assessment in a Protected Area in the Northeast of Brazil

The quality of aquatic environments all around the world is being altered by different human activities that represent direct threat to the ecological system and the aquatic biota. This study aimed to evaluate the occurrence of histological and genotoxic alterations in Prochilodus lacustris as indicators of anthropic impacts in a lacustrine environment in northeast Brazil. The histological alterations were evaluated using the histological alteration index, and the genotoxic alterations were detected using the micronuclei test, at three sampling stations (S1, S2 and S3). The gills presented lesions with three stages of severity, with mild lesions more frequent in the specimens collected at station S1. Mild hepatic tissue lesions were the most frequent type in both areas. Micronucleus analysis showed that station S3 was the most affected. The biological responses observed indicated that the fish are under influence of environmental changes. It is important to highlight that the organisms collected at station S3 had a more compromised health status.     

Antigenicity and immunogenicity of HIV-1 consensus subtype B envelope glycoproteins

"Centralized" (ancestral and consensus) HIV-1 envelope immunogens induce broadly cross-reactive T cell responses in laboratory animals; however, their potential to elicit cross-reactive neutralizing antibodies has not been fully explored. Here, we report the construction of a panel of consensus subtype B (ConB) envelopes and compare their biologic, antigenic, and immunogenic properties to those of two wild-type Env controls from individuals with early and acute HIV-1 infection. Glycoprotein expressed from full-length (gp160), uncleaved (gp160-UNC), truncated (gp145), and N-linked glycosylation site deleted (gp160-201N/S) versions of the ConB env gene were packaged into virions and, except for the fusion defective gp160-UNC, mediated infection via the CCR5 co-receptor. Pseudovirions containing ConB Envs were sensitive to neutralization by patient plasma and monoclonal antibodies, indicating the preservation of neutralizing epitopes found in contemporary subtype B viruses. When used as DNA vaccines in guinea pigs, ConB and wild-type env immunogens induced appreciable binding, but overall only low level neutralizing antibodies. However, all four ConB immunogens were significantly more potent than one wild-type vaccine at eliciting neutralizing antibodies against a panel of tier 1 and tier 2 viruses, and ConB gp145 and gp160 were significantly more potent than both wild-type vaccines at inducing neutralizing antibodies against tier 1 viruses. Thus, consensus subtype B env immunogens appear to be at least as good as, and in some instances better than, wild-type B env immunogens at inducing a neutralizing antibody response, and are amenable to further improvement by specific gene modifications.     

A high glycolytic flux supports the proliferative potential of murine embryonic stem cells

Embryonic stem (ES) cells are immortal and present the ability to self-renew while retaining their ability to differentiate. In contrast, most primary cells possess a limited proliferative potential, and when this is exhausted, undergo an irreversible growth arrest termed senescence. In primary cells, senescence can be also triggered by a variety of stress to which ES cells are highly refractory. Here the authors report that the proliferative capacity of murine ES cells closely correlates with high activity of different glycolytic enzymes, elevated glycolytic flux, and low mitochondrial oxygen consumption. The direct relation between glycolytic flux and the ability of ES cells to proliferate is further remarked in experiments where glycolysis or ES cell self-renewal was specifically inhibited. It was previously reported that the upregulation of glycolysis in primary cells results in life span extension. The authors hypothesize that the naturally high glycolytic flux observed in murine ES cells can be responsible for their unlimited proliferative potential.     

Health-Related Quality of Life for Eating Disorders questionnaire version-2 was responsive 1-year after initial assessment

OBJECTIVES: To assess the responsiveness of the Health-Related Quality of Life for Eating Disorders questionnaire version-2 (HeRQoLEDv2) and present the psychometric characteristics of a new binge domain. STUDY DESIGN AND SETTING: Patients with an eating disorder completed the HeRQoLEDv2, the Eating Attitudes Test-26, Short Form Health Survey-12, and two items from the Eating Disorder Inventory-2, at baseline and after 1 year. At the second assessment, patients completed the HeRQoLEDv2, as part of the battery of tests, along with health transitional questions. Validity and reliability analyses of the new binge domain were performed. Responsiveness was evaluated using distributional and anchor-based approaches, comparison of mean changes, mean change correlations, the minimal detectable change (MDC) at the individual and group level, and the minimal important difference (MID). RESULTS: Items in the binge domain loaded above 0.40. Cronbach alpha was 0.82. Regarding responsiveness, the mean changes detected by the HeRQoLEDv2 correlated above 0.30 with the criterion measures. Patients who reported improvement showed significant changes, and effect sizes above 0.30. The MDC(90%ind) was larger than the MID. CONCLUSION: The HeRQoLEDv2 includes the new binge domain. It responded to change at the group level. Further research regarding the MID is needed.     

Two-year experience with telemedicine in the follow-up of patients in home peritoneal dialysis

We evaluated the use of telemedicine in the long-term control of stable patients undergoing peritoneal dialysis at home. From September 2003 to August 2005, patients were randomly selected from current cases and invited to join study group A, in which they had telemedicine support. Patients not selected for this group, or who refused the invitation, were placed in study group B, and used for comparison. There were 25 patients in group A and 32 patients in group B. Videoconferencing equipment was installed in each patient's home, connected to a videoconferencing unit at the hospital by three ISDN lines. Patients in group A were followed for a mean of 8 months (range 3-24) with alternate months of teleconsultations and hospital visits. A total of 172 teleconsultations were conducted. A mean of 22 min (SD 9) were spent on each teleconsultation, significantly less than in hospital consultations, which took a mean of 33 min (SD 8) (P<0.01). In 148 teleconsultations (89%) medical treatment was modified. In 4 cases (2%) patients needed a hospital visit. In all instances (100%) the condition of the catheter exit site and the presence of oedema could be evaluated. In group A, the estimated cost of telemedicine was euro198 and that of a hospital visit was euro177. The mean hospitalization rate was 2.2 days/patient/year in group A and 5.7 days/patient/year in group B (P<0.05). Home telemedicine appears to be clinically useful in the long-term follow-up of stable patients undergoing peritoneal dialysis, and the costs and savings also seem to be encouraging.     

Humanization and nursing assistance to normal childbirth

Bibliographical study that sought to identify the scientific production about humanization and nursing assistance to normal childbirth. The sources were scientific articles from SCIELO-Brasil's database, from 2000 to 2007. We obtained 13 articles as result from the search, which were grouped in the following categories: childbirth medicalization, humanization of assistance to childbirth, companion during childbirth and performance of the obstetric nurse. The analysis pointed out that the current paradigm is centralized on childbirth intervention, despite of humanization movements defending the natural and physiological childbirth made by the nurse. We concluded that qualified and humanized assistance to childbirth and birth privileges women's respect, dignity and autonomy, regarding women's active role in the birth process.