Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

'HeART of Stroke (HoS)', a community-based Arts for Health group intervention to support self-confidence and psychological well-being following a stroke: protocol for a randomised controlled feasibility study

Introduction Over 152 000 people in the UK have strokes annually and a third experience residual disability. Low mood also affects a third of stroke survivors; yet psychological support is poor. While Arts for Health interventions have been shown to improve well-being in people with mild-to-moderate depression post-stroke, their role in helping people regain sense of self, well-being and confidence has yet to be evaluated. The main aim of this study is to explore the feasibility of conducting a pragmatic multicentre randomised controlled trial to assess the effectiveness and cost-effectiveness of an Arts for Health group intervention (‘HeART of Stroke’ (HoS)) for stroke survivors. HoS is a 10-session artist-facilitated group intervention held in the community over 14 weeks. It offers a non-judgemental, supportive environment for people to explore sense of self, potentially enhancing well-being and confidence. Methods and analysis Sixty-four people, up to 2 years post-stroke, recruited via secondary care research staff or community stroke/rehabilitation teams in two UK centres will be randomised to either HoS plus usual care or usual care only. Self-reported outcomes, measured at baseline and approximately 5 months postrandomisation, will include stroke-related, well-being, mood, self-esteem, quality of life and process measures. Analyses will focus on estimating key feasibility parameters (eg, rates of recruitment, retention, intervention attendance). We will develop outcome and resource use data collection methods to inform an effectiveness and cost-effectiveness analysis in the future trial. Interviews, with a sample of participants, will explore the acceptability of the intervention and study processes, as well as experiences of the HoS group. Ethics and dissemination National Health Service (NHS), Research and Development and University ethical approvals have been obtained. Two peer-reviewed journal publications are planned plus one service user led publication. Findings will be disseminated at key national conferences, local stakeholder events and via institutional websites.This paper presents independent research funded by the National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme (Grant Reference Number PB-PG-0212-27054)

Variabilidade genética em muçuã utilizando marcadores moleculares RAPD.

O muçuã (Kinosternon scorpioides) é uma espécie de extrema importância econômica no Estado do Pará, sendo indispensáveis estudos que viabilizem sua conservação e sua caracterização genética, a fim de direcionar programas de melhoramento nessa espécie e o monitoramento da sua variabilidade. O objetivo foi avaliar a variabilidade genética existente em populações de Kinosternon scorpioides do Banco de Germoplasma Animal da Amazônia Oriental (BAGAM), localizado em Salvaterra, na ilha de Marajó, no Estado do Pará, a fim de realizar uma caracterização molecular inicial da espécie. Foram utilizados marcadores moleculares RAPD (Polimorfismos de DNA Amplificados ao Acaso). Para tanto, foram obtidas amostras de DNA a partir de sangue total de 39 indivíduos de diferentes populações. A seleção de primers foi realizada a partir de um screening de quatro kits (kit OPA, OPU, OPJ, OPM), dos quais foram selecionados os doze mais polimórficos, que geraram bandas no intervalo de três a oito, viáveis para utilização. A análise de similaridade genética foi realizada com 53 marcadores RAPD, no programa NTSYS-pc, 2.0 utilizando o coeficiente de Jaccard. A partir dos dados gerados pela UPGMA (Unweighted Pair Group Method with Arithmetic Mean), pôde-se dimensionar a variabilidade existente entre os mesmos. Foram obtidos intervalos de similaridade genética variando de 3-98%, sendo que os indivíduos mais divergentes foram o M8 e o M14 com o M33 (0,03) e os mais similares, os genótipos M3 e o M4 (0,98). Os resultados indicaram a existência de variabilidade genética a ser explorada na espécie, tanto para programas de melhoramento genético como para a conservação da mesm