Revista Médica Internacional sobre el Síndrome de Down最新文献_第4页

Regresión en adultos jóvenes con síndrome de Down. Revisión de tres casos 年轻成人唐氏综合征的消退。检讨三宗个案

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-09-01 DOI: 10.1016/S1138-2074(14)70054-5

B. Garvía , B. Benejam

引用次数: 0

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-09-01 DOI: 10.1016/S1138-2074(14)70052-1

A. Serés

引用次数: 0

Efectos del entrenamiento pliométrico sobre la resistencia cardiorrespiratoria de niños y adolescentes con síndrome de Down 增强式训练对唐氏综合征儿童和青少年心肺阻力的影响

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-09-01 DOI: 10.1016/S1138-2074(14)70053-3

A. González-Agüero , A. Gómez-Cabello , A. Matute-Llorente , A. Gómez-Bruton , G. Vicente-Rodríguez , J.A. Casajús

{"title":"Efectos del entrenamiento pliométrico sobre la resistencia cardiorrespiratoria de niños y adolescentes con síndrome de Down","authors":"A. González-Agüero , A. Gómez-Cabello , A. Matute-Llorente , A. Gómez-Bruton , G. Vicente-Rodríguez , J.A. Casajús","doi":"10.1016/S1138-2074(14)70053-3","DOIUrl":"10.1016/S1138-2074(14)70053-3","url":null,"abstract":"<div><h3>Aim</h3><p>To ascertain the effects of 21 weeks of circuit training, including plyometric jumps, on cardiorespiratory fitness of youths with Down syndrome (DS).</p></div><div><h3>Methods</h3><p>Twenty-seven children and adolescents aged 10 to 19 years with DS participated in this study and were divided in two groups: exercise (EXE, <em>n</em>  =13). Work time, peak values of oxygen consumption, respiratory exchange ratio, heart rate and minute ventilation of the participants were measured in pre- and post-training moments with a graded exercise treadmill test.</p></div><div><h3>Results</h3><p>EXE group increased all their cardiorespiratory parameters compared to baseline after 21 weeks of training (all <em>p</em><.05). Additionally, and despite having similar pre-training values, EXE group showed higher values than CON group in all cardiorespiratory parameters after training (all <em>p</em><.05).</p></div><div><h3>Conclusion</h3><p>It may be concluded that youths with DS can achieve improvements in several cardiorespiratory parameters when performing 21 weeks of training including plyometric exercises.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"18 3","pages":"Pages 35-42"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(14)70053-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83866214","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

Comentario al texto refundido de la Ley General de derechos de las personas con discapacidad y de su inclusión social 对《残疾人权利和社会包容总法》综合案文的评论

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-08-01 DOI: 10.1016/S1138-2074(14)70048-X

M. Peralta

引用次数: 1

Identificación de genes clave implicados en el síndrome de Down mediante terapia génica 通过基因治疗鉴定唐氏综合征的关键基因

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-08-01 DOI: 10.1016/S1138-2074(14)70049-1

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

{"title":"Identificación de genes clave implicados en el síndrome de Down mediante terapia génica","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/S1138-2074(14)70049-1","DOIUrl":"10.1016/S1138-2074(14)70049-1","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 strategydeveloped 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 syndromecould be a contributing factor to the cognitive defects.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"18 2","pages":"Pages 21-28"},"PeriodicalIF":0.0,"publicationDate":"2014-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(14)70049-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76213795","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: 0

Fe de Errores 错误信念

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-08-01 DOI: 10.1016/S1138-2074(14)70051-X

Xavier Pastor

引用次数: 0

Vacunaciones y calendario vacunal para las personas con síndrome de Down 唐氏综合症患者的疫苗接种和疫苗接种时间表

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-08-01 DOI: 10.1016/S1138-2074(14)70050-8

J.M. Corretger

引用次数: 0

La vida en pareja con el síndrome de Down 患有唐氏综合症的夫妇的生活

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-01-01 DOI: 10.1016/S1138-2074(14)70046-6

B. Garvía , P. Ruf

{"title":"La vida en pareja con el síndrome de Down","authors":"B. Garvía , P. Ruf","doi":"10.1016/S1138-2074(14)70046-6","DOIUrl":"10.1016/S1138-2074(14)70046-6","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":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","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/S1138-2074(14)70046-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87939762","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: 3

Síndrome de Down y epilepsia

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-01-01 DOI: 10.1016/S1138-2074(14)70044-2

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

{"title":"Síndrome de Down y epilepsia","authors":"A. Ulate-Campos , A. Nascimento , C. Ortez","doi":"10.1016/S1138-2074(14)70044-2","DOIUrl":"10.1016/S1138-2074(14)70044-2","url":null,"abstract":"<div><p>Down 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 media 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-aminobutiric acid containing granule cells and an increased level of glutamate, which favours a hyperexcitable 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":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","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/S1138-2074(14)70044-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73392362","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: 0

Cartas al director 卡特主任

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-01-01 DOI: 10.1016/S1138-2074(14)70047-8

Xavier Pastor

引用次数: 0