Down sindromea duen kolektiboaren agilidadean, koordinazioan eta orekan taekwondo-a duen eragina

[EUS] Proiektu honen bitartez, Down sindromea pairatzen duten, >14 urteko 8 parte hartzaileen agilidadea, koordinazioa eta oreka ebaluatu izan da, taekwondo-ko ordu bateko lau saio eginez. Aipaturiko faktoreak neurtzeko, ECOMI eskala egokitua erabili da. Hau, lehenengo eta azkenengo saioetan erabili izan da, datuak hartzeko eta konparaketak egin ahal izateko, eboluzioa ikusiz. Neurketak behin eginda, ikusi egin da bai koordinazioan eta orekan hobekuntzak izan dituztela orokorrean, aldiz, agilitatean ez da hobekuntza aipagarririk egon, eta aldi berean, parte hartzaileen arteko aldea nahiko nabarmena izan da. Hobekuntza ezak edo txikiak izateak, denbora eskasagatik izan dela esan daiteke. Beste autore batzuen esanetan, 20 saiotan hobekuntza nabarmenak lortu daitezke.

Combined Fluorescent-Chromogenic In Situ Hybridization for Identification and Laser Microdissection of Interphase Chromosomes

Chromosome territories constitute the most conspicuous feature of nuclear architecture, and they exhibit non-random distribution patterns in the interphase nucleus. We observed that in cell nuclei from humans with Down Syndrome two chromosomes 21 frequently localize proximal to one another and distant from the third chromosome. To systematically investigate whether the proximally positioned chromosomes were always the same in all cells, we developed an approach consisting of sequential FISH and CISH combined with laser-microdissection of chromosomes from the interphase nucleus and followed by subsequent chromosome identification by microsatellite allele genotyping. This approach identified proximally positioned chromosomes from cultured cells, and the analysis showed that the identity of the chromosomes proximally positioned varies. However, the data suggest that there may be a tendency of the same chromosomes to be positioned close to each other in the interphase nucleus of trisomic cells. The protocol described here represents a powerful new method for genome analysis

Stability of the factorial structure of metabolic syndrome from childhood to adolescence : a 6-year follow-up study

Background: Metabolic syndrome (MS) is a clustering of cardiometabolic risk factors that is considered a predictor of cardiovascular disease, type 2 diabetes and mortality. There is no consistent evidence on whether the MS construct works in the same way in different populations and at different stages in life. Methods: We used confirmatory factor analysis to examine if a single-factor-model including waist circumference, triglycerides/HDL-c, insulin and mean arterial pressure underlies metabolic syndrome from the childhood to adolescence in a 6-years follow-up study in 174 Swedish and 460 Estonian children aged 9 years at baseline. Indeed, we analyze the tracking of a previously validated MS index over this 6-years period. Results: The estimates of goodness-of-fit for the single-factor-model underlying MS were acceptable both in children and adolescents. The construct stability of a new model including the differences from baseline to the end of the follow-up in the components of the proposed model displayed good fit indexes for the change, supporting the hypothesis of a single factor underlying MS component trends. Conclusions: A single-factor-model underlying MS is stable across the puberty in both Estonian and Swedish young people. The MS index tracks acceptably from childhood to adolescence.

Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus

Background : Thrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors involved in thrombosis development among aPLA carriers. Methods: To identify new loci conferring susceptibility to thrombotic antiphospholipid syndrome, a two-stage genotyping strategy was performed. In stage one, 19,000 CNV loci were genotyped in 14 thrombotic aPLA+ patients and 14 healthy controls by array-CGH. In stage two, significant CNV loci were fine-mapped in a larger cohort (85 thrombotic aPLA+, 100 non-thrombotic aPLA+ and 569 healthy controls). Results : Array-CGH and fine-mapping analysis led to the identification of 12q24.12 locus as a new susceptibility locus for thrombotic APS. Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10−4 OR 95% CI 1.84 (1.32–2.55)). Conclusion : The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.

Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

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Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Diseño de un programa de Surf recreativo enfocado a colectivos con Síndrome de Down de 6 a 10 años

El objetivo de este trabajo es diseñar un programa de surf recreativo enfocado a colectivos con Síndrome de Down de 6 a 10 años. El Síndrome de Down se define como una discapacidad intelectual causada por una alteración en el par de cromosomas 21 (OMS, 2011). Resulta de especial relevancia el tratamiento de dicha discapacidad de manera no farmacológica, destacando la actividad física, en este caso el surf, como elemento inclusivo a nivel físico, psicológico y social. Se analizan distintos programas de Actividad Física en el medio acuático con personas con Síndrome de Down y se presenta el Surf como elemento que provoca grandes beneficios. A continuación se presenta el diseño de un programa que podría llevarse a cabo en un entorno cercano a nuestro territorio con un atractivo elevado ya que se trata de un proyecto innovador y beneficioso para personas con Síndrome de Down y sus familiares.

Down sindromea duten umeen inklusibitatea eta dantza klasikoaren onurak haiengan

Gai honekiko interesa, aurreko urtean “Jarduera fisiko inklusiboa” irakasgaia hasi genuenean piztu zitzaidan eta lan hau egitea erabakitzearen arrazoia, dantza campus batean monitore moduan bizitako esperientzia izan zen. Bertan, gaixotasun ezberdinak zituzten umeak elkartu ziren gure klubeko umeekin batera lan egiteko eta dantza egiten gozatzen zutena ikusita gozatzen nuen nik ere. Baina bereziki, Down Sindromea (DS) duten umeekin lan egiteko gogoa sortu zitzaidan. Horren geroztik, gaixotasun hau duten pertsonekin lan egiten duten dantza taldeak badaudela aurkitu nuen, baina nire asmoa ez da soilik DS duten umeei dantza egiten irakastea, baizik eta ume hauen eta gaixotasunik ez dutenen arteko elkarlana bultzatzea ere, inklusibitatea hain zuzen, baita dantzak haiengan sortzen dituen onurak aztertzea ere, bai fisiko zein psikologikoki.