Revista Médica Internacional sobre el Síndrome de Down最新文献_第5页

El papel del cateterismo cardíaco en la trisomía 21 y en la hipertensión pulmonar 心导管在21三体和肺动脉高压中的作用

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-01-01 DOI: 10.1016/S1138-2074(14)70045-4

O.W. Williams

引用次数: 1

Los orígenes de la Fundació Catalana Síndrome de Down

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2014-01-01 DOI: 10.1016/S1138-2074(14)70043-0

M. Trueta

引用次数: 0

Matrimonio y reproducción en una mujer con síndrome de Down 唐氏综合症女性的婚姻和生育

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-09-01 DOI: 10.1016/S1138-2074(13)70041-1

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

{"title":"Matrimonio y reproducción en una mujer con síndrome de Down","authors":"L.M. Azevedo Moreira, L. Damasceno Espirito Santo","doi":"10.1016/S1138-2074(13)70041-1","DOIUrl":"10.1016/S1138-2074(13)70041-1","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 propositus 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":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","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/S1138-2074(13)70041-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86086764","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

Síndrome de Down hereditario poco común debido a la translocación robertsoniana 15/21: asesoramiento genético y reproductivoa 罗伯逊易位引起的罕见遗传性唐氏综合征15/21:遗传咨询和生殖a

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-09-01 DOI: 10.1016/S1138-2074(13)70040-X

L.M. Azevedo Moreira, L. Damasceno Espirito Santo, A. Fernandes Lacerda Carvalho

引用次数: 0

El Dr. Pueschel y la Fundación Pueschel博士和基金会

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-09-01 DOI: 10.1016/S1138-2074(13)70038-1

Montserrat Trueta

引用次数: 0

Trayectoria y retos del Servicio de Ocio: Los primeros 25 años 休闲服务的轨迹和挑战:前25年

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-09-01 DOI: 10.1016/S1138-2074(13)70042-3

C. Herreros , M.J. Miquel

引用次数: 0

Nos ha dejado un gran amigo 一位好朋友给我们留下了

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-09-01 DOI: 10.1016/S1138-2074(13)70039-3

Dr. Agustí Serés

引用次数: 0

Hipotiroidismo y síndrome de Down

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-05-01 DOI: 10.1016/S1138-2074(13)70035-6

C. Claret , J.M. Corretger , A. Goday

{"title":"Hipotiroidismo y síndrome de Down","authors":"C. Claret , J.M. Corretger , A. Goday","doi":"10.1016/S1138-2074(13)70035-6","DOIUrl":"10.1016/S1138-2074(13)70035-6","url":null,"abstract":"<div><h3>Introduction</h3><p>Subclinical hypothyroidism is common in the first years of life of children with Down's syndrome (DS). The aim of this study was to analyse the natural evolution of this disease and to identify the factors that predict its spontaneous remission.</p></div><div><h3>Material and methods</h3><p>A retrospective, observational study conducted on patients with DS and hypothyroidism diagnosed before 5 years of age, who were seen in a DS reference medical centre.</p></div><div><h3>Results</h3><p>A total of 53 patients, 28 boys and 25 girls, with a mean age 2.4±1.1 years, were identified with subclinical hypothyroidism. The hypothyroidism resolve spontaneously in 39 cases (73.6%), in a mean time of 13.2±11.1 months, this resolution rate being significantly higher in the patients without goitre: 94.9% (95% confidence interval [CI]: 81.2-99.3%) vs 28.6% (95% CI: 4.4-37.7%), <em>p</em> <em><</em> .05). Fifteen patients (28.3%) were treated with levothyroxine.</p></div><div><h3>Conclusions</h3><p>The subclinical hypothyroidism that appears in early infancy in DS is usually transient. The absence of goitre and antibodies is associated with a higher spontaneous resolution rate.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"17 2","pages":"Pages 18-24"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(13)70035-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88674436","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

Una cuestión de derechos humanos 这是一个人权问题

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-05-01 DOI: 10.1016/S1138-2074(13)70034-4

K. Trias Trueta

引用次数: 0

Habilidades e interacciones sociales de los niños con síndrome de Down en la educación ordinaria 普通教育中唐氏综合症儿童的技能与社会互动

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-05-01 DOI: 10.1016/S1138-2074(13)70037-X

R. Valdívia Lucisano , L.I. Pfeifer , M.P. Panuncio-Pinto , J.L. Ferreira Santos , P.P. Gomes Anhão

{"title":"Habilidades e interacciones sociales de los niños con síndrome de Down en la educación ordinaria","authors":"R. Valdívia Lucisano , L.I. Pfeifer , M.P. Panuncio-Pinto , J.L. Ferreira Santos , P.P. Gomes Anhão","doi":"10.1016/S1138-2074(13)70037-X","DOIUrl":"10.1016/S1138-2074(13)70037-X","url":null,"abstract":"<div><p>This study identifies the process of social interaction of children with Down's syndrome (DS) in the regular educational system of a city in the interior of São Paulo, Brazil. Six children aged from three to six years old participated in the study. Each child was videotaped in four situations of social interaction in two distinct environments (indoors and outdoors), which enabled the analysis of interpersonal and self-expression skills through the observation of 15 types of behaviors. The results reveal that the behavior type <em>“Interacts with another child”</em>, within the category “interpersonal skills”, was the most frequent both indoors and outdoors with an average of 27.5 and 28.3, respectively. With regard to “selfexpression skills”, only the behavior <em>“Smiles”</em> had a considerable number of occurrences indoors with an average of 8.16, while the behaviors <em>“Smiles” and “Imitates other children”</em> presented significant occurrence outdoors with averages of 5.16 and 3, respectively. The conclusion is that including children with DS in the regular educational system promotes new forms of learning and interaction for them through daily contact with children with typical development, enabling them to acquire social interaction skills.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"17 2","pages":"Pages 29-34"},"PeriodicalIF":0.0,"publicationDate":"2013-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(13)70037-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83909242","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