MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE.

MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leul50 ser fsX11) on exon 6 of MLC1 gene is presented.

DNA methyltransferase 1-associated protein (DMAP1) is a co-repressor that stimulates DNA methylation globally and locally at sites of double strand break repair.

Correction of double strand DNA breaks proceeds in an error-free pathway of homologous recombination (HR), which can result in gene silencing of half of the DNA molecules caused by action by DNA methyltransferase 1 (DNMT1) (Cuozzo, C., Porcellini, A., Angrisano, T., Morano, A., Lee, B., Di Pardo, A., Messina, S., Iuliano, R., Fusco, A., Santillo, M. R., Muller, M. T., Chiariotti, L., Gottesman, M. E., and Avvedimento, E. V. (2007) PLoS Genet. 3, e110). To explore the mechanism that leads to HR-induced silencing, a genetic screen was carried out based on the silencing of a GFP reporter to identify potential partners. DMAP1, a DNMT1 interacting protein, was identified as a mediator of this process. DMAP1 is a potent activator of DNMT1 methylation in vitro, suggesting that DMAP1 is a co-repressor that supports the maintenance and de novo action of DNMT1. To examine critical roles for DMAP1 in vivo, lentiviral shRNA was used to conditionally reduce cellular DMAP1 levels. The shRNA transduced cells grew poorly and eventually ceased their growth. Analysis of the tumor suppressor gene p16 methylation status revealed a clear reduction in methylated CpGs in the shRNA cells, suggesting that reactivation of a tumor suppressor gene pathway caused the slow growth phenotype. Analysis of HR, using a fluorescence-based reporter, revealed that knocking down DMAP1 also caused hypomethylation of the DNA repair products following gene conversion. DMAP1 was selectively enriched in recombinant GFP chromatin based on chromatin immunoprecipitation analysis. The picture that emerges is that DMAP1 activates DNMT1 preferentially at sites of HR repair. Because DMAP1 depleted cells display enhanced HR, we conclude that it has additional roles in genomic stability.

Young children's representations of peers' distress: associations to children's social functioning and acceptance of distressed peers.

Children's mental representations of situations involving another child's distress were examined in two studies. Study 1 examined 3- to 7-year-old children's (n= 44) ideas about what victims and bystanders would think, feel and do in hypothetical situations. In Study 2, 7- to 8-year-olds (n= 40) described their own cognitive response to situations in which they were confronted with another's distress. In both studies, representational bias was examined in relation to children's display of prosocial and aggressive behavior and in relation to their acceptance of distressed peers. Although not entirely consistent, findings indicate that three types of representational biases are associated with low levels of considerate behavior and with relatively low acceptance of distressed peers: (a) mentally representing the victim's problem without giving thought to its implications for the victim, (b) significantly reducing the emotional significance of the problem and (c) exaggerating negative aspects of the problem.

Self-perceived health and self-care among diabetic subjects with defective vision: a comparison between subjects with threat of blindness and blind subjects.

The aim of this study was to compare self-perceived health among diabetic patients who experienced threat of blindness with those who had already gone blind. Another aim was to explore different aspects of self-care in relation to self-perceived health among the subjects. Twenty-one diabetic patients under threat of becoming blind and 23 with diabetes-related blindness agreed to participate in the study. The participants were compared with an age- and gender-matched nondiabetic reference group. Self-perceived health was measured using the 63-item Swedish Health-Related Quality of Life Survey (SWED-QUAL) questionnaire. Data on diabetes-related variables were collected from the patient's hospital records. An interview guide was created for measuring dimensions of self-care. Patients with threat of becoming blind showed better self-perceived health than blind patients, but no differences were found in comparison with the Swedish reference group. Blind patients scored lower in 6 of the 13 health domains and they reported more problems with diabetes self-care than patients with threat of becoming blind. One of the 13 health domains, role limitations due to physical health, seemed to be associated with impaired self-care although only a partial understanding could be demonstrated. The results show that blind patients need specific support to cope well with different self-care situations. A great challenge in future research in diabetes is to implement education programs suitable especially for patients who have gone blind because of diabetes.

Sense of coherence and power among people with blindness caused by diabetes.

The aim of the present study was to analyze whether strong sense of coherence (SOC) or power or the combination of strong SOC and power was related to blind diabetic patients' self-perceived health, burden of diabetes, glycaemic control and self-care among blind people. In some variables we wanted to compare subjects with diabetes-related blindness with people who were blind for other reasons than diabetes. The present descriptive study included 39 blind subjects from three ophthalmic outpatient clinics who agreed to participate; 23 were blind due to diabetes and 16 were blind for other reasons. Power was explored during semi-structured interviews, SOC was measured with the SOC-scale and burden of diabetes with semantic differential in diabetes (SDD) questionnaires. A single Likert scale (EVGFP) was used to measure self-perceived health. Participants with the combination of strong SOC and power perceived better health, experienced less burden of diabetes and had better glycaemic control than those with the combination of weak SOC and non-power. Nearly all participants with diabetes experienced problems with self-care, especially with the insulin treatment. The results highlight the importance of education that increases SOC and power as well as developing visual aids that assist blind people with diabetes in different self-care situations.

Postpartum care should provide alternatives to meet parents' need for safety, active participation, and 'bonding'.

OBJECTIVE: To describe new parents' choice of the type of maternity care they wanted to receive, the family suite (FS) or an early discharge (ED), and to gain a better understanding of parents' experiences of different postnatal care alternatives. DESIGN: A qualitative study using semi-structured interviews. The interviews were analysed by content analysis. SETTING AND PARTICIPANTS: Eleven couples and one mother, including both first-time and experienced parents. Six families received care at a FS while the others chose an ED within 24 hours after birth. MEASUREMENTS AND FINDINGS: The postpartum period was experienced as an unpredictable time for new parents, when the need for safety, participation in decision-making, and 'bonding' was felt to be central and decisive to their choice of care. The type of care that the parents felt best met their needs varied according to the mother's assessment of her own and the baby's health status, the parents' requirements and experience and the way in which they, as parents, handled the opportunities and demands of different environments. However, the opportunities for the parents to choose the form of care they considered best for their family were limited. PRACTICAL IMPLICATIONS: To best fulfil parents' wishes and needs in postnatal care alternative care forms are needed. Also, a way to treat the family as a whole on an individual family basis must be found and parents of newborn babies should be allowed to choose the form of care they consider best.

Oral health and health-related quality of life in type 2 diabetic patients and non-diabetic controls.

The aim of the present study was to identify factors in oral health and also diabetes-related and socio-economic components that could be associated with the subject's health-related quality of life (HRQL). One-hundred-and-two randomly sampled type 2 diabetic and 102 age-matched and gender-matched non-diabetic subjects from the same residential area were studied cross-sectionally using the SF-36 questionnaire. Although the HRQL profiles were similar in nature, the control subjects indicated a more favorable health status in their HRQL scores than did type 2 diabetic subjects. Certain oral health factors contributed to deterioration of the patient's HRQL. Multiple regression analyses including both groups were used to determine variables explaining variance in the different HRQL domains. Dissatisfaction with teeth and mouth, feeling of dry mouth and poor financial status contributed to about one-fourth of the explanation of the variance in all health domains. Having diabetes played an important role in the domains Physical Functioning, Role functioning--Physical, General Health, and Social Functioning. Age was important for Physical Functioning and Role functioning--Physical. Our study indicates that different factors may be associated with impaired HRQL, especially among type 2 diabetic subjects, although only a partial understanding of its relation to oral health could be demonstrated.

Oral dryness and peripheral neuropathy in subjects with type 2 diabetes.

Two common complaints related to diabetes mellitus are oral dryness (xerostomia) and peripheral neuropathy (PN) and there is some evidence of a relationship between them. Therefore, we formulated a hypothesis that type 2 diabetic subjects with xerostomia in our study also exhibited PN. The study included 102 randomly sampled type 2 diabetic patients from a healthcare district in mid-Sweden. Besides clinical and X-ray examinations, patients were asked whether they experienced oral dryness. PN was defined through thorough foot examination and the use of a modified neuropathy symptom score (NSS) and neuropathy disability score (NDS). Other diabetes-related variables were extracted from medical records. More than half of the individuals (53.5%) reported oral dryness and 23.8% were diagnosed with PN. None of the variables in a stepwise regression analysis could explain the variance in oral dryness, besides "pain in the legs," which contributed with 5% to the explanation. Our hypothesis that type 2 diabetic subjects with xerostomia also were affected with PN could not be verified in this study, but the results must be interpreted with caution as relatively few subjects were affected with both oral dryness and PN (13.8%). Further and larger controlled studies are needed before the hypothesis can be definitely rejected. Despite our incomplete understanding about the relation between oral dryness and PN, professionals in oral health as well as in primary health have to strive for increased knowledge in this field.