O que é o Sequenciamento completo de exoma?
“O Sequenciamento completo de exoma é uma nova forma de teste genético que identifica mudanças no DNA do paciente, se focando no conjunto total de éxons do genoma, isto é, os segmentos de DNA que codificam para proteínas e que incluem todas as mutações causadoras de doenças mais conhecidas. Enquanto a maioria dos testes genéticos está direcionada a um único gene ou um conjunto de genes pré-determinados, o sequenciamento completo de exoma examina milhares de genes simultaneamente. Isto é o que faz do sequenciamento de exoma um dos mais eficientes métodos de identificação de mutações genéticas.”
Para continuar a ler basta carregar AQUI.
O Afonso é uma criança de seis anos e cheia de vida mas que apresenta um atraso global de desenvolvimento. Carece de efetuar um diagnóstico complementar em Genética Médica, isto é, Painéis Genéticos e Exoma de modo a descobrir a etiologia do atraso do seu desenvolvimento. Infelizmente, os pais do Afonso precisam de ajuda para fazer face aos custos envolvidos no estudo genético. Caso pretenda conhecer melhor o Afonso e contribuir para a angariação de fundo, carregue AQUI.
A Síndrome de Down no Período Tudor e Renascimento Europeu
“Muitas pinturas do Renascimento, mostram bebês e crianças com Síndrome de Down, retratados como querubins ou como o menino Jesus. Várias explicações para isto foram apresentadas. Alguns estudiosos disseram que no período, as pessoas acreditavam que quem possuía alguma deficiência, seja física ou mental, era um ser divino e abençoado por Deus, tendo por isto, um lugar especial ao lado de papas, bispos, reis, nobres e cavaleiros, que buscavam sempre tal companhia. Eles acreditavam que iriam ganhar o favor de Deus, caso fornecessem ajuda e compaixão à tais pessoas.”
Em Maio de 2016 os alunos já não fazem exames no 4.º ano
Os projectos de lei do PCP e do BE foram aprovados na generalidade pela maioria de esquerda do Parlamento.
Primeira professora com Síndrome de Down recebe prémio de educação
Há 10 anos, Débora Seabra, 34 anos, trabalha como professora na Escola Doméstica, instituição de ensino particular, que fica em Natal, no Rio Grande do Norte. A diferença entre ela e os outros docentes da instituição? Débora tem Síndrome de Down.
Os alunos do 4º ano (a partir deste ano lectivo) podem reprovar se tiverem negativa a Inglês e Português ou a Inglês e Matemática e nota insuficiente noutra disciplina.
O temperamento infantil poderá ter impacto na qualidade de sono da criança?
Um estudo realizado na Faculdade de Psicologia da Universidade de Lisboa (2014), com crianças de idade pré-escolar, revela que crianças mais impulsivas são mais resistentes na hora de deitar. Tendem a sair mais das suas camas após serem colocadas para dormir, acabando por adormecer mais tarde. Para retomarem o sono, solicitam um maior envolvimento parental na hora de adormecer, o que é visto como um obstáculo à autorregulação do sono da criança.
Perante isto, é importante que os pais destas crianças sejam capazes de antecipar dificuldades e adotar estratégias preventivas, para que seja possível controlar o efeito do temperamento na qualidade do sono. Os pais devem adaptar o seu comportamento às características temperamentais da criança nas interações em torno do sono.
Para mais informações: http://hdl.handle.net/10451/18229
Aripiprazole: from pharmacological profile to clinical use
Authors: Di Sciascio G, Riva MA
Received: 7 May 2015
Accepted for publication: 11 August 2015
Published: 13 October 2015 Volume 2015:11 Pages 2635—2647
Checked for plagiarism: Yes
Review by Single-blind
Peer reviewers approved by Dr Xiang Mou
Editor who approved publication: Dr Roger Pinder
Guido Di Sciascio,1 Marco Andrea Riva2
1Department of Psychiatry, University Hospital “Policlinico”, Bari, Italy; 2Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy
Abstract: Clinical experience with aripiprazole has confirmed the effectiveness and the safety of this novel antipsychotic drug in patients with schizophrenia as well as for the treatment of mania in type I bipolar disorder. However the generalization of the results from clinical trials requires further effort in order to address some issues and to overcome incorrect and partial interpretation of the clinical evidence. This article provides some straightforward guidance that may help clinical psychiatrists to translate the mechanism of action of aripiprazole into clinical setting, thus improving the appropriate use of the drug through rational application of its pharmacological profile. Examples of paradigmatic clinical situations are presented and discussed, suggesting possible intervention strategies, which may contribute to achieving the most appropriate use of the pharmacological properties of aripiprazole in real life settings.
Keywords: partial agonist, dopamine receptor, antipsychotic switch, neuronal plasticity
Barriers to sexuality for individuals with intellectual and developmental disabilities: A literature review.
Sinclair, James, University of Oregon, Eugene, OR, US, email@example.com
Unruh, Deanne, University of Oregon, Eugene, OR, US
Lindstrom, Lauren, University of Oregon, Eugene, OR, US
Scanlon, David, Boston College, Chestnut Hill, MA, US
Address: Sinclair, James, University of Oregon, 901 East 18th Ave., 5260, Eugene, OR, US, 97403-5260, firstname.lastname@example.org
Source: Education and Training in Autism and Developmental Disabilities, Vol 50(1), Mar, 2015. pp. 3-16.
Publisher: US : Council for Exceptional Children/Div on Developmental Disabilities
Other Journal Titles:
Education & Training in Mental Retardation; Education & Training in Mental Retardation & Developmental Disabilities; Education & Training of the Mentally Retarded; Education and Training in Developmental Disabilities
Keywords: developmental disabilities, sexuality, intellectual disabilities, quality of life, mental retardation
Individuals with intellectual and developmental disabilities (ID/DD) experience multiple barriers that may prevent them from understanding and exploring their own sexuality. These barriers prevent them from achieving the same autonomy and quality of life as their peers. This research synthesis focuses on 13 articles published between 2000 and 2013 that explored sexuality of individuals with ID/DD. Analysts of these articles produced common barriers that individuals with ID/DD experience. Implications for practice are discussed. (PsycINFO Database Record (c) 2015 APA, all rights reserved) (journal abstract)
Subjects: *Developmental Disabilities; *Sexuality; *Intellectual Development Disorder; Quality of Life
Pode consultar o artigo, gentilmente cedido pelos autores, AQUI.
Sexuality and developmental disability: Obstacles to healthy sexuality throughout the lifespan.
Richards, Deborah, Niagara College, NY, US, email@example.com
Miodrag, Nancy, McGill University, Montreal, PQ, Canada
Watson, Shelley L., University of Alberta, Edmonton, AB, Canada
Address: Richards, Deborah, Community Living Welland-Pelham, 535 Sutherland Avenue, Welland, ON, Canada, L3B 5A4, firstname.lastname@example.org
Source: Developmental Disabilities Bulletin, Vol 34(1-2), 2006. pp. 137-155.
Page Count: 19
Publisher: Canada : JP Das Development Disabilities Centre
Other Journal Titles: Mental Retardation & Learning Disability Bulletin
Keywords: developmental disabilities, life span, sexuality, eugenics, self esteem, individual differences
This paper presents a lifespan perspective of sexuality issues for individuals with developmental disabilities. Individuals with developmental disabilities are human beings who have historically been denied the right to express their sexuality or engage in sexual relationships due to misconceptions or negative attitudes. Using a hypothetical case to illustrate the challenges experienced by individuals with disabilities, human rights violations and the need for education and appropriate sexual information are highlighted. Issues such as eugenics, vulnerability to abuse, self-esteem, and individual differences are also discussed. Recommendations far practice are provided. (PsycINFO Database Record (c) 2012 APA, all rights reserved) (journal abstract)
Subjects: *Developmental Disabilities; *Individual Differences; *Life Span; *Sexuality; Eugenics; Self Esteem; Disability Discrimination
Atomoxetine treatment may decrease striatal dopaminergic transporter availability after 8 weeks: pilot SPECT report of three cases
Authors: Akay AP, Kaya GC, Baykara B, Demir Y, Ozek H, Alsen S, Eren MS, Emiroglu NI, Ertay T, Ozturk Y, Miral S, Durak H, Tufan E
Published 19 November 2015 Volume 2015:11 Pages 2909—2912
Editor who approved publication: Dr Roger Pinder
Aynur Pekcanlar Akay,1 Gamze Capa Kaya,2,3 Burak Baykara,1 Yusuf Demir,2,3 Handan Özek,1 Sevay Alsen,1 Mine Sencan Eren,2,3 Neslihan Inal Emiroglu,1 Turkan Ertay,2,3 Yesim Ozturk,4 Suha Miral,1 Hatice Durak,2,3 Evren Tufan4
1Department of Child and Adolescent Psychiatry, 2Department of Nuclear Medicine, 3Department of Pediatrics, Dokuz Eylul University Medical Faculty, Izmir, 4Department of Child and Adolescent Psychiatry, Abant İzzet Baysal University, Bolu, Turkey
Keywords: neuroimaging, dopamine, noradrenaline, SLC6A3 protein, human, pragmatic clinical trial, pilot study
Attention deficit/hyperactivity disorder is one of the most common neurodevelopmental disorders. The pathophysiology is thought to involve noradrenaline and dopamine. The role of dopamine transporter (DAT) was evaluated in imaging studies using mostly dopamine reuptake inhibitors. Atomoxetine is a selective noradrenaline reuptake inhibitor. Here we report the results of a pilot study conducted to evaluate changes in striatal DAT after 8 weeks of atomoxetine treatment. Our results suggest that 8 weeks of atomoxetine treatment may change striatal DAT bioavailability as measured via SPECT but that change was not correlated with genotype or clinical improvement.
Comparative efficacy, acceptability, and tolerability of dexmethylphenidate versus placebo in child and adolescent ADHD: a meta-analysis of randomized controlled trials
Authors: Maneeton N, Maneeton B, Woottiluk P, Suttajit S, Likhitsathian S, Charnsil C, Srisurapanont M
Published 25 November 2015 Volume 2015:11 Pages 2943—2952
Editor who approved publication: Professor Wai Kwong Tang
Narong Maneeton,1,* Benchalak Maneeton,1,* Pakapan Woottiluk,2 Sirijit Suttajit,1 Surinporn Likhitsathian,1 Chawanun Charnsil,1 Manit Srisurapanont1
1Department of Psychiatry, Faculty of Medicine, 2Division of Psychiatric Nursing, Faculty of Nursing, Chiang Mai University, Chiang Mai, Thailand
*These authors contributed equally to this work
Keywords: dexmethylphenidate, child and adolescent ADHD, meta-analysis
Background: The efficacy of dexmethylphenidate (d-MPH) has been proven in the treatment of children and adolescents with attention-deficit hyperactivity disorder (ADHD).
Objective: The aim of this systematic review is to determine the efficacy, acceptability, and tolerability of d-MPH in child and adolescent ADHD.
Methods: The searches of SCOPUS, MEDLINE, CINAHL, and Cochrane Controlled Trials Register were performed in February 2015. All randomized controlled trials of d-MPH versus placebo that were performed in children and adolescents with ADHD up to 18 years of age were included in the study. The efficacy was measured by using the pooled mean-endpoint or mean-changed scores of ADHD rating scales and the response rate. Acceptability and tolerability were measured by using the pooled rates of overall discontinuation and discontinuation due to adverse events, respectively.
Results: A total of 1,124 children and adolescents diagnosed as having ADHD were included in this review. In a laboratory school setting, the pooled mean-change and mean-endpoint scores in the d-MPH-treated group were significantly greater than those of the placebo-treated group with standardized mean difference (95% confidence interval [CI]) of -1.20 (-1.73, -0.67), I2=95%. Additionally, the pooled mean-changed scores of the ADHD rating scales for teachers and parents in the d-MPH-treated group were significantly greater than that of the placebo-treated group with weighted mean difference (95% CI) of -13.01 (-15.97, -10.05), I2=0% and (95% CI) of -12.99 (-15.57, -10.42), I2=0%, respectively. The pooled response rate in the d-MPH-treated groups had a significance higher than that of the placebo-treated group. The rates of pooled overall discontinuation and discontinuation due to adverse events between the two groups were not significantly different.
Conclusion: Based on the findings in this review, it can be concluded that d-MPH medication is efficacious and tolerable in child and adolescent ADHD. However, the acceptability of d-MPH is no greater than that of the placebo. Further systematic studies may confirm these findings.
Asenapine for bipolar disorder
Authors: Scheidemantel T, Korobkova I, Rej S, Sajatovic M
Published: 4 December 2015 Volume 2015:11 Pages 3007—3017
Editor who approved publication: Dr Roger Pinder
Thomas Scheidemantel,1 Irina Korobkova,2 Soham Rej,3,4 Martha Sajatovic1,2
1University Hospitals Case Medical Center, 2Case Western Reserve University School of Medicine, Cleveland, OH, USA;3Department of Psychiatry, University of Toronto, Toronto, ON, 4Geri PARTy Research Group, Jewish General Hospital, Montreal, QC, Canada
Keywords: asenapine, bipolar, manic episode, mixed episode, depressive features, safety, tolerability
Asenapine (Saphris®) is an atypical antipsychotic drug which has been approved by the US Food and Drug Administration for the treatment of schizophrenia in adults, as well as the treatment of acute manic or mixed episodes of bipolar I in both adult and pediatric populations. Asenapine is a tetracyclic drug with antidopaminergic and antiserotonergic activity with a unique sublingual route of administration. In this review, we examine and summarize the available literature on the safety, efficacy, and tolerability of asenapine in the treatment of bipolar disorder (BD). Data from randomized, double-blind trials comparing asenapine to placebo or olanzapine in the treatment of acute manic or mixed episodes showed asenapine to be an effective monotherapy treatment in clinical settings; asenapine outperformed placebo and showed noninferior performance to olanzapine based on improvement in the Young Mania Rating Scale scores. There are limited data available on the use of asenapine in the treatment of depressive symptoms of BD, or in the maintenance phase of BD. The available data are inconclusive, suggesting the need for more robust data from prospective trials in these clinical domains. The most commonly reported adverse effect associated with use of asenapine is somnolence. However, the somnolence associated with asenapine use did not cause significant rates of discontinuation. While asenapine was associated with weight gain when compared to placebo, it appeared to be modest when compared to other atypical antipsychotics, and its propensity to cause increases in hemoglobin A1c or serum lipid levels appeared to be similarly modest. Asenapine does not appear to cause any clinically significant QTc prolongation. The most commonly reported extra-pyramidal symptom associated with asenapine was akathisia. Overall, asenapine appears to be a relatively well-tolerated atypical antipsychotic, effective in the treatment of acute manic and mixed episodes of BD.
Profile of brivaracetam and its potential in the treatment of epilepsy
Authors: Ferlazzo E, Russo E, Mumoli L, Sueri C, Gasparini S, Palleria C, Labate A, Gambardella A, De Sarro G, Aguglia U
Published 30 November 2015 Volume 2015:11 Pages 2967—2973
Editor who approved publication: Dr Roger Pinder
Edoardo Ferlazzo,1,2 Emilio Russo,3 Laura Mumoli,1 Chiara Sueri,2 Sara Gasparini,1,2 Caterina Palleria,3 Angelo Labate,1Antonio Gambardella,1 Giovambattista De Sarro,3 Umberto Aguglia1,2
1Department of Medical and Surgical Sciences, Magna Græcia University, Catanzaro, 2Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, 3Institute of Pharmacology, Magna Græcia University, Catanzaro, Italy
Keywords: seizures, animal, therapy, drug, antiepileptic
Brivaracetam (BRV) (UCB 34714) is currently under review by the US Food and Drug Administration and European Medicines Agency for approval as an add-on treatment for adult patients with partial seizures. Similar to levetiracetam (LEV), BRV acts as a high-affinity ligand of the synaptic vesicle protein 2A, however, it has been shown to be 10- to 30-fold more potent than LEV. Moreover, BRV does not share the LEV inhibitory activity on the high voltage Ca2+ channels and AMPA receptors, and it has been reported to act as a partial antagonist on neuronal voltage-gated sodium channels. The pharmacokinetic profile of BRV is favorable and linear, and it undergoes an extensive metabolism into inactive compounds, mainly through the hydrolysis of its acetamide group. Furthermore, it does not significantly interact with other antiepileptic drugs and more than 95% is excreted through the urine, with an unchanged fraction of 8%–11%. BRV has a half-life of approximately 8–9 hours and it is usually given twice daily. To date, a wide range of experimental studies have reported the effectiveness of BRV with regards to partial and generalized seizures. In humans, six randomized, placebo-controlled trials and two meta-analyses highlighted the efficacy, or good tolerability, of BRV as an add-on treatment for patients with uncontrolled partial seizures. A wide dose range of BRV has been evaluated in those trials (5–200 mg), but the most suitable for clinical use appears to be 50–100 mg/day. The most common adverse reactions to BRV are mild to moderate, transient, often improve during the course of the treatment, and mainly consist of central nervous system symptoms, such as fatigue, dizziness, and somnolence. The aim of this paper is to critically review the literature data regarding experimental animal models and clinical trials on BRV, and to define its potential usefulness for the clinicians who manage patients with epilepsy.