International Medical Review on Down Syndrome最新文献_第5页

Comments on the consolidated text of the general law on rights of persons with disabilities and their social inclusion 对关于残疾人权利和融入社会的一般法律综合案文的评论

International Medical Review on Down Syndrome Pub Date : 2014-05-01 DOI: 10.1016/S2171-9748(14)70048-0

M. Peralta

引用次数: 0

Vaccines and vaccination calendar for people with Down's syndrome 唐氏综合症患者的疫苗和疫苗接种日程表

International Medical Review on Down Syndrome Pub Date : 2014-05-01 DOI: 10.1016/S2171-9748(14)70050-9

J.M. Corretger

引用次数: 1

Identification of key genes involved in Down's syndrome pathogenesis by gene therapy 基因治疗鉴定唐氏综合征发病的关键基因

International Medical Review on Down Syndrome Pub Date : 2014-05-01 DOI: 10.1016/S2171-9748(14)70049-2

C. Fillat , X. Bofill-De Ros , M. Santos , E.D. Martín , N. Andreu , E. Villanueva , D. d’Amico , M. Dierssen , X. Altafaj

{"title":"Identification of key genes involved in Down's syndrome pathogenesis by gene therapy","authors":"C. Fillat , X. Bofill-De Ros , M. Santos , E.D. Martín , N. Andreu , E. Villanueva , D. d’Amico , M. Dierssen , X. Altafaj","doi":"10.1016/S2171-9748(14)70049-2","DOIUrl":"10.1016/S2171-9748(14)70049-2","url":null,"abstract":"<div><p>Viruses have evolved ways of encapsulating and delivering their genes into human cells. Gene therapy takes advantage of this capability to manipulate the viral genome and convert an infectious agent into an efficient vector that delivers therapeutic genes. In the current work we have applied gene therapy approaches based on adeno-associated virus and lentivirus delivery to identify candidate genes (protein-coding or miRNAs) involved in the cognitive deficits in Down Syndrome. We show that the hippocampal injection of the adeno-associated virus AAV2/1-shDyrk1A normalized Dyrk1A expression in the trisomic Ts65Dn mice. As a consequence the regulation of key molecular players in memory and learning processes was rescued and mice showed an attenuation of synaptic plasticity defects and improved efficacy in learning strategies. All together these results reinforce the role of Dyrk1A in cognition. On the other hand, with the lentiviral strategy developed to specifically inhibit miR-155 and miR-802 (Lv-anti-miR155/802), we were able to show a tight control of the miRNAs target Mecp2 suggesting that the downregulation of MeCP2 in Down syndrome could be a contributing factor to the cognitive defects.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"18 2","pages":"Pages 21-28"},"PeriodicalIF":0.0,"publicationDate":"2014-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(14)70049-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"106397665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

The role of cardiac catheterization in Trisomy 21 and pulmonary hypertension 心导管插入术在21三体和肺动脉高压中的作用

International Medical Review on Down Syndrome Pub Date : 2014-01-01 DOI: 10.1016/S2171-9748(14)70045-5

O.W. Williams

引用次数: 0

Down's syndrome and epilepsy 唐氏综合症和癫痫

International Medical Review on Down Syndrome Pub Date : 2014-01-01 DOI: 10.1016/S2171-9748(14)70044-3

A. Ulate-Campos , A. Nascimento , C. Ortez

{"title":"Down's syndrome and epilepsy","authors":"A. Ulate-Campos , A. Nascimento , C. Ortez","doi":"10.1016/S2171-9748(14)70044-3","DOIUrl":"10.1016/S2171-9748(14)70044-3","url":null,"abstract":"<div><p>Down's syndrome (DS) is the most common genetic cause of mental retardation, affecting approximately one in 660 births. DS is associated with many neurological complications, including early-onset dementia that resembles Alzheimer's disease, Moyamoya disease, strokes, spinal ligamentous laxity, and epilepsy. The prevalence of epilepsy in individuals with DS is higher than in the general population, with rates ranging from 1% to 13%, with a mean of 5.5%. The increased seizure susceptibility in DS has been attributed to inherent structural and molecular anomalies of the brain and to secondary complications. Among other facts, patients with DS have less inhibitory γ-aminobutyric acid-containing granule cells and an increased level of glutamate, which favours a hyper-excitable state. West syndrome, with infantile spasms, is the most common epilepsy syndrome in children with DS. There are many electroencephalographic (EEG) anomalies associated with DS, but no specific pattern has been established. The primary drug choices for infantile spasms are adrenocorticotropic hormone, valproate and vigabatrine, but no significant difference has been demonstrated with different treatment options. Studies have shown that children with DS have better seizure control compared to other children with symptomatic infantile spasms. Other seizure types have been described in adult patients with DS including, focal crisis, reflex seizures, and late-onset myoclonic epilepsy associated with dementia. This article provides an overview of epilepsy in DS.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"18 1","pages":"Pages 3-8"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(14)70044-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74445361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

The origins of the Fundació Catalana Síndrome de Down Fundació加泰罗尼亚Síndrome de Down的起源

International Medical Review on Down Syndrome Pub Date : 2014-01-01 DOI: 10.1016/S2171-9748(14)70043-1

M. Trueta

引用次数: 0

Living as a couple with Down's syndrome 像一对患有唐氏综合症的夫妻一样生活

International Medical Review on Down Syndrome Pub Date : 2014-01-01 DOI: 10.1016/S2171-9748(14)70046-7

B. Garvía , P. Ruf

{"title":"Living as a couple with Down's syndrome","authors":"B. Garvía , P. Ruf","doi":"10.1016/S2171-9748(14)70046-7","DOIUrl":"10.1016/S2171-9748(14)70046-7","url":null,"abstract":"<div><p>The improvement in the living conditions of individuals with Down's syndrome has opened enormous opportunities to lead a normal life and take advantages of projects in keeping with their expectations and hopes. The integration into schools and workplaces, participation in the community, and an independent life are the scenarios that have enabled them to study, work, have friends, a partner and, occasionally, their own home. The emancipation from their families is still exceptional, but is a challenge that culminates in a voluntarily chosen life project. The most usual tendency is that they live indefinitely with their families until these die and then go on living with another family member or in an institution. For many of them it is unthinkable to live alone, form a partnership or have sexual relationships.</p><p>But, what do individuals with Down's syndrome want? As members of our reality, they want the same as other young people: to have a job, a partner, a home and to be able to live together. In some cases these wishes have received the support of the families, who with a certain amount of risk and bravery, have offered them the opportunity to form their own family unit and enjoy a normal life with the necessary support. This article is drawn from the real and daily experience of 14 years of supporting the emancipation process of these individuals who have started to live together as a couple and a family.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"18 1","pages":"Pages 13-17"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(14)70046-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83529194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Trajectory and challenges of the Leisure Service: The first 25 years 休闲服务的发展轨迹与挑战:前25年

International Medical Review on Down Syndrome Pub Date : 2013-09-01 DOI: 10.1016/S2171-9748(13)70042-4

C. Herreros , M.J. Miquel

引用次数: 0

Dr. Pueschel and the Foundation 普舍尔博士和基金会

International Medical Review on Down Syndrome Pub Date : 2013-09-01 DOI: 10.1016/S2171-9748(13)70038-2

Montserrat Trueta

引用次数: 0

Marriage and reproduction in a woman with Down syndrome 唐氏综合症女性的婚姻和生育

International Medical Review on Down Syndrome Pub Date : 2013-09-01 DOI: 10.1016/S2171-9748(13)70041-2

L.M. Azevedo Moreira, L. Damasceno Espirito Santo

{"title":"Marriage and reproduction in a woman with Down syndrome","authors":"L.M. Azevedo Moreira, L. Damasceno Espirito Santo","doi":"10.1016/S2171-9748(13)70041-2","DOIUrl":"10.1016/S2171-9748(13)70041-2","url":null,"abstract":"<div><p>Sex life of people with Down syndrome (DS) or other conditions associated with intellectual disability is still a taboo, with few reports in the literature. Advances in knowledge of causal and nosological aspects, including its social achievements, have led to the strengthening of the inclusive movement aimed at those people. This paper presents an unusual case of successful marriage and reproduction of a woman with DS. The proband studied in special schools and communicates well verbally. She presented menarche at age of 13, showing autonomy in caring for her body. Eight years ago she met her current husband at the special school she attended. Two years after the wedding, the proband became pregnant of a male child without the syndrome. She is able to take care of her child needs, sharing this responsibility with her own mother, who was primarily responsible for her education directed towards autonomy. The proband's karyotype revealed trisomy 21 with chromosomal mosaicism. New social achievements are occurring, among them the establishment of lasting emotional relationships. The reproductive chances and risks of recurrence of DS should be considered in genetic counseling. The breeding and rearing of any children born from these marriages become new responsibilities shared by these special parents and their families.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"17 3","pages":"Pages 39-42"},"PeriodicalIF":0.0,"publicationDate":"2013-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(13)70041-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88139693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6