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Revista Médica Internacional sobre el Síndrome de Down最新文献

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Síndrome de Down con oído interno anómalo: ¿es apto para un implante coclear? 内耳异常的唐氏综合症:是否适合人工耳蜗植入?
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2013-05-01 DOI: 10.1016/S1138-2074(13)70036-8
H. Eyzawiah , A. Suraya , A. Asma
{"title":"Síndrome de Down con oído interno anómalo: ¿es apto para un implante coclear?","authors":"H. Eyzawiah ,&nbsp;A. Suraya ,&nbsp;A. Asma","doi":"10.1016/S1138-2074(13)70036-8","DOIUrl":"10.1016/S1138-2074(13)70036-8","url":null,"abstract":"<div><p>Hearing loss is a common problem in Down's syndrome (DS). The majority of this population, up to 80%, are suffering from a conductive type hearing loss, whereas estimating 4-20% are due to sensorineural hearing loss. Over the years, the treatment of profound sensorineural hearing loss has been changed since the introduction of cochlear implants. We report a case of a 4 years and 5 months old child with DS and low Intelligence Quotient that had been referred to our centre for cochlear implants. In view of late referral and multiple additional handicaps, with addition of having Larged Vestibular Aqueduct Syndrome (LVAS), bilateral incomplete partition of cochlear Type II and abnormal periventricular white matter, she had been rejected for cochlear implantation.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"17 2","pages":"Pages 25-28"},"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)70036-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77438818","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
Los grupos terapéuticos de niños con patología dual: síndrome de Down y rasgos autistas en la Fundació Catalana Síndrome de Down 双病理儿童治疗组:唐氏综合症和自闭症特征在fundacio Catalana唐氏综合症
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70028-3
B. Guerra
{"title":"Los grupos terapéuticos de niños con patología dual: síndrome de Down y rasgos autistas en la Fundació Catalana Síndrome de Down","authors":"B. Guerra","doi":"10.1016/S1138-2074(12)70028-3","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70028-3","url":null,"abstract":"","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"119 1","pages":"44-48"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87982134","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
Participación en el XI Congreso Mundial sobre el Síndrome de Down 参加第十一届唐氏综合症世界大会
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70025-8
K. Trias Trueta
{"title":"Participación en el XI Congreso Mundial sobre el Síndrome de Down","authors":"K. Trias Trueta","doi":"10.1016/S1138-2074(12)70025-8","DOIUrl":"10.1016/S1138-2074(12)70025-8","url":null,"abstract":"","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 3","pages":"Page 33"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70025-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79065350","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
Fractura por estrés del cuello femoral en una niña con síndrome de Down 一名患有唐氏综合症的女孩股颈应力性骨折
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70027-1
M.L. López de Dicastillo Roldán , V.E. Gómez Palacio , J. Gil Albarova , J. Bregante Baquero
{"title":"Fractura por estrés del cuello femoral en una niña con síndrome de Down","authors":"M.L. López de Dicastillo Roldán ,&nbsp;V.E. Gómez Palacio ,&nbsp;J. Gil Albarova ,&nbsp;J. Bregante Baquero","doi":"10.1016/S1138-2074(12)70027-1","DOIUrl":"10.1016/S1138-2074(12)70027-1","url":null,"abstract":"<div><p>Stress fractures are injuries that are often related to repeated cycles of loading on a normal bone subjected to excessive mechanical stress, as well on a bone of less resistance.</p><p>We report the case of a 5 year old girl with Down syndrome and consults because of her walking difficulty and a left groin pain of 3–4 days duration. In the history highlights the tendency of the girl to make repetitive jumps in monopodal support on the left lower extremity. Radiographic examination revealed a stress fracture of the left femoral neck. After conservative treatment the patient had a satisfactory outcome.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 3","pages":"Pages 40-43"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70027-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74711124","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
Los grupos terapéuticos de niños con patología dual: síndrome de Down y rasgos autistas en la Fundació Catalana Síndrome de Down 双病理儿童治疗组:唐氏综合症和自闭症特征在fundacio Catalana唐氏综合症
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70028-3
B. Ortiz Guerra
{"title":"Los grupos terapéuticos de niños con patología dual: síndrome de Down y rasgos autistas en la Fundació Catalana Síndrome de Down","authors":"B. Ortiz Guerra","doi":"10.1016/S1138-2074(12)70028-3","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70028-3","url":null,"abstract":"<div><p>In this article the author places special emphasis on the importance of making a diagnosis of the psychopathology associated with Down's syndrome (SD): the dual pathology. In particular, the diagnosis of autism, included within the general development disorders according to the DSM-IV diagnostic classification.</p><p>The alarm signals of children with DS in their first years of life, which must be evaluated in depth, are mentioned throughout the article. The different diagnostic classifications are then reviewed with the aim of adapting them to the specificity of DS. Lastly, the methodology and psychotherapy indicated after establishing the diagnosis is discussed.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 3","pages":"Pages 44-48"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70028-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90002663","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
Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar 唐氏综合症儿童的社会认知技能:初步研究结果
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70026-X
A. Amadó , B. Benejam , J. Mezuca , E. Serrat , E. Vallès-Majoral
{"title":"Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar","authors":"A. Amadó ,&nbsp;B. Benejam ,&nbsp;J. Mezuca ,&nbsp;E. Serrat ,&nbsp;E. Vallès-Majoral","doi":"10.1016/S1138-2074(12)70026-X","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70026-X","url":null,"abstract":"<div><p>The understanding of false belief is one of the most important milestones in the development of social cognition in children. Many studies have been conducted about this kind of cognition in typically developing children. Despite being a key point for improving their welfare and quality of life, studies in children with Down syndrome are few. The aim of the present work is to deepen in the study of social cognition in children with Down syndrome. For this purpose, we used 6 tasks, with 3 levels of difficulty, in a group of 9 children aged between 4 and 14. From these children, 6 had a genetic diagnosis of Down syndrome and 3 did not. The results of our research corroborate previous studies suggesting difficulties in the development of social cognition in children with Down syndrome, and more specifically in tasks involving false beliefs.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 3","pages":"Pages 34-39"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70026-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91636656","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
Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar 唐氏综合症儿童的社会认知技能:初步研究结果
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-09-01 DOI: 10.1016/S1138-2074(12)70026-X
Anna Amadó, B. Benejam, J. Mezuca, Elisabet Serrat, E. Vallès-Majoral
{"title":"Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar","authors":"Anna Amadó, B. Benejam, J. Mezuca, Elisabet Serrat, E. Vallès-Majoral","doi":"10.1016/S1138-2074(12)70026-X","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70026-X","url":null,"abstract":"","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"47 1","pages":"34-39"},"PeriodicalIF":0.0,"publicationDate":"2012-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82839207","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
Malnutrición extrema en una lactante de origen etíope con síndrome de Down
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-05-01 DOI: 10.1016/S1138-2074(12)70022-2
A. Parri, H. Segurola, M. Villatoro, A. Goday, F. J. Parri
{"title":"Malnutrición extrema en una lactante de origen etíope con síndrome de Down","authors":"A. Parri, H. Segurola, M. Villatoro, A. Goday, F. J. Parri","doi":"10.1016/S1138-2074(12)70022-2","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70022-2","url":null,"abstract":"","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"7 1","pages":"26-28"},"PeriodicalIF":0.0,"publicationDate":"2012-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84444621","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
Noticias 新闻
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-05-01 DOI: 10.1016/S1138-2074(12)70024-6
{"title":"Noticias","authors":"","doi":"10.1016/S1138-2074(12)70024-6","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70024-6","url":null,"abstract":"","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 2","pages":"Page 31"},"PeriodicalIF":0.0,"publicationDate":"2012-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70024-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137228471","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
Alteraciones del índice de masa corporal y peroxidación lipídica en individuos adultos con síndrome de Down 成年唐氏综合征患者体重指数和脂质过氧化的改变
Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2012-05-01 DOI: 10.1016/S1138-2074(12)70021-0
C.J. Chávez , P. Ortega , A. D’Escrivan , L.E. Miranda , J.Y. Leal M , C. Delgado
{"title":"Alteraciones del índice de masa corporal y peroxidación lipídica en individuos adultos con síndrome de Down","authors":"C.J. Chávez ,&nbsp;P. Ortega ,&nbsp;A. D’Escrivan ,&nbsp;L.E. Miranda ,&nbsp;J.Y. Leal M ,&nbsp;C. Delgado","doi":"10.1016/S1138-2074(12)70021-0","DOIUrl":"https://doi.org/10.1016/S1138-2074(12)70021-0","url":null,"abstract":"<div><h3>Introduction and objective</h3><p>: Trisomy 21 or Down's syndrome (DS) is the most common cause of mental retardation of chromosomal origin, in which obesity is a public health problem. Obesity is a pro-oxidant state associated with lipid peroxidation and alterations of antioxidant mechanisms. The effect of gene dosage has been linked to oxidative stress in DS. The objective of this study was to determine the status of lipid peroxidation and changes in body mass index (BMI) in adults with DS.</p></div><div><h3>Patients and method</h3><p>A prospective and cross-sectional study was conducted on 50 adult subjects (31.0<!--> <!-->±<!--> <!-->6.3 years) with normal karyotype (NK) and 29 adults with DS (28.0<!--> <!-->±<!--> <!-->8.7 years), randomly selected.</p></div><div><h3>Results</h3><p>: The serum levels of malondialdehyde (MDA) were analysed by thiobarbituric acid derivatives. The BMI was determined in adults with DS. The data were analysed using the SPSS 15 statistical program, using a 95% confidence interval (CI), P&lt;.05.</p><p>Adults with DS showed high concentrations of MDA (0.9<!--> <!-->±<!--> <!-->0.7 nmol / ml, P&lt;.009) compared to adult NK group (0.5<!--> <!-->±<!--> <!-->0.4 nmol / ml). Abnormality was observed in 72.4% of BMI (n<!--> <!-->=<!--> <!-->21) of adults with DS. Elevated concentrations of MDA (1.3<!--> <!-->±<!--> <!-->1.0 nmol / ml) were seen in adults with DS and overweight (BMI<!--> <!-->= 27.5<!--> <!-->±<!--> <!-->1.3), showing no significant decrease in obese adults with DS.</p></div><div><h3>Conclusion</h3><p>Although a reduction of antioxidant enzymes in severely obese adults without DS has been reported, the effect of gene dosage may be a contributing factor in reducing lipid peroxidation in obese adults with DS, without being a protective factor of its pathological consequences.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"16 2","pages":"Pages 19-25"},"PeriodicalIF":0.0,"publicationDate":"2012-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1138-2074(12)70021-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91726522","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
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