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International Medical Review on Down Syndrome最新文献

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Respiratory syncytial virus and Down's syndrome 呼吸道合胞病毒与唐氏综合症
International Medical Review on Down Syndrome Pub Date : 2011-11-01 DOI: 10.1016/S2171-9748(11)70011-3
J. Figueras Aloy
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引用次数: 2
Discussion and review of the literature following the case of a young man with Down's syndrome and cerebral venous thrombosis 讨论和文献回顾后的情况下，一个年轻的男子唐氏综合征和脑静脉血栓
International Medical Review on Down Syndrome Pub Date : 2011-11-01 DOI: 10.1016/S2171-9748(11)70013-7
J. Garzón Ruiz, E. Fajardo-Picó, J. Aguilar-García, C. Ruiz-Guerrero, R.M. Miranda Matilla, M.A. Iribarren-Marín
{"title":"Discussion and review of the literature following the case of a young man with Down's syndrome and cerebral venous thrombosis","authors":"J. Garzón Ruiz,&nbsp;E. Fajardo-Picó,&nbsp;J. Aguilar-García,&nbsp;C. Ruiz-Guerrero,&nbsp;R.M. Miranda Matilla,&nbsp;M.A. Iribarren-Marín","doi":"10.1016/S2171-9748(11)70013-7","DOIUrl":"10.1016/S2171-9748(11)70013-7","url":null,"abstract":"<div><p>This review and discussion of the current literature is based on the case of a young man with Down's syndrome (DS) and cerebral venous thrombosis (CVT).</p></div><div><h3>Clinical case</h3><p>Twenty-seven-year-old male who presented with headache, vomiting and left hemiparesis. After finding signs consistent with cerebral venous thrombosis on neuroimaging, anticoagulant treatment was started, and eventuated in a favorable clinical outcome.</p></div><div><h3>Discussion</h3><p>DS patients are predisposed to the occurrence of embolic stroke secondary to congenital heart disease. However, the causes of CVT in DS are uncertain, but probably have a multifactorial origin. There are to date two published cases of CVT in patients with DS.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 3","pages":"Pages 37-40"},"PeriodicalIF":0.0,"publicationDate":"2011-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70013-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87072318","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: 5
Vaccination schedule for people with Down's syndrome, 2012 唐氏综合症患者的疫苗接种时间表，2012年
International Medical Review on Down Syndrome Pub Date : 2011-11-01 DOI: 10.1016/S2171-9748(11)70015-0
{"title":"Vaccination schedule for people with Down's syndrome, 2012","authors":"","doi":"10.1016/S2171-9748(11)70015-0","DOIUrl":"https://doi.org/10.1016/S2171-9748(11)70015-0","url":null,"abstract":"","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 3","pages":"Pages 45-47"},"PeriodicalIF":0.0,"publicationDate":"2011-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70015-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137370472","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
The skin and its manifestations in the clinical history of children with Down's syndrome 唐氏综合征患儿的皮肤及其临床表现
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70007-1
M.D. Pozo Cano , E. González Jiménez , J. Álvarez Ferre , E. Martínez García , M.C. Navarro Jiménez
{"title":"The skin and its manifestations in the clinical history of children with Down's syndrome","authors":"M.D. Pozo Cano ,&nbsp;E. González Jiménez ,&nbsp;J. Álvarez Ferre ,&nbsp;E. Martínez García ,&nbsp;M.C. Navarro Jiménez","doi":"10.1016/S2171-9748(11)70007-1","DOIUrl":"10.1016/S2171-9748(11)70007-1","url":null,"abstract":"<div><p>Chromosomal disorders are not usually associated with specific alterations of the skin, with Down's syndrome being an exception, because the skin of the newborn with this syndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher, and generalised xerosis associated with keratosis pilaris is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features in these patients. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this study was to carry out a review of existing literature on major dermatological processes and their prevalence in the paediatric patient with Down's syndrome.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Pages 23-25"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70007-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81188925","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
Achondroplasia and Down's syndrome – case report of a rare association 软骨发育不全与唐氏综合征——一罕见关联病例报告
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70008-3
S. Santos, T. Silva, M. Pinto
{"title":"Achondroplasia and Down's syndrome – case report of a rare association","authors":"S. Santos,&nbsp;T. Silva,&nbsp;M. Pinto","doi":"10.1016/S2171-9748(11)70008-3","DOIUrl":"10.1016/S2171-9748(11)70008-3","url":null,"abstract":"<div><p>The association of achondroplasia and Down's syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up.</p><p>We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down's syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life.</p><p>To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Pages 26-28"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70008-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"102139328","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
Farewell Charles! 告别查尔斯!
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70005-8
A. Serés Santamaría
{"title":"Farewell Charles!","authors":"A. Serés Santamaría","doi":"10.1016/S2171-9748(11)70005-8","DOIUrl":"https://doi.org/10.1016/S2171-9748(11)70005-8","url":null,"abstract":"","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Page 17"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70005-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136407446","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
Attention deficit disorder with or without hyperactivity or impulsivity in children with Down's syndrome 唐氏综合症儿童伴或不伴多动或冲动的注意缺陷障碍
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70006-X
M. Hernández Martínez , X. Pastor Duran , J. Navarro Navarro
{"title":"Attention deficit disorder with or without hyperactivity or impulsivity in children with Down's syndrome","authors":"M. Hernández Martínez ,&nbsp;X. Pastor Duran ,&nbsp;J. Navarro Navarro","doi":"10.1016/S2171-9748(11)70006-X","DOIUrl":"10.1016/S2171-9748(11)70006-X","url":null,"abstract":"<div><p>Children with Down's syndrome show a higher prevalence of attention deficit disorder with or without hyperactivity or impulsivity (ADHD) than the rest of the general population. The diagnosis and identification of ADHD is important because it can affect performance at school and cause behavioural disturbances.</p><p>This research study has two objectives. First of all, in this review we consider the repercussions that ADHD has on Down's syndrome children. Secondly, we present a systematic analysis of the articles published in the scientific literature relating to the tests used to diagnose ADHD in DS children.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Pages 18-22"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70006-X","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88602023","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: 10
Attention to the first infancy (part II): assistance activity 注意第一个婴儿期(第二部分):协助活动
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70009-5
M. Golanó Fornells
{"title":"Attention to the first infancy (part II): assistance activity","authors":"M. Golanó Fornells","doi":"10.1016/S2171-9748(11)70009-5","DOIUrl":"10.1016/S2171-9748(11)70009-5","url":null,"abstract":"<div><p>This article explains the healthcare given to toddlers and infants at the <em>Centro de Desarrollo Infantil y Atención Temprana</em> (Centre for Child Development and Early Intervention). The child is considered a member of an essential relationship (family) and development is considered a subjective, relational and maturative display.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Pages 29-31"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70009-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79944504","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
Premio Reina Sofía 2010 awarded to FCSD 2010 年索菲亚王后奖授予 FCSD
International Medical Review on Down Syndrome Pub Date : 2011-07-01 DOI: 10.1016/S2171-9748(11)70010-1
{"title":"Premio Reina Sofía 2010 awarded to FCSD","authors":"","doi":"10.1016/S2171-9748(11)70010-1","DOIUrl":"https://doi.org/10.1016/S2171-9748(11)70010-1","url":null,"abstract":"","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 2","pages":"Page 32"},"PeriodicalIF":0.0,"publicationDate":"2011-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70010-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137288734","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
Healthcare for infants and toddlers (part I) 婴幼儿保健(第一部分)
International Medical Review on Down Syndrome Pub Date : 2011-03-01 DOI: 10.1016/S2171-9748(11)70004-6
M. Golanó Fornells
{"title":"Healthcare for infants and toddlers (part I)","authors":"M. Golanó Fornells","doi":"10.1016/S2171-9748(11)70004-6","DOIUrl":"10.1016/S2171-9748(11)70004-6","url":null,"abstract":"<div><p>This article is about healthcare for infants and toddlers between 0 and 6 years with different types of organic, psychological or social difficulties. It outlines some specific fundamentals with regards healthcare for infants and toddlers, lines of research and current healthcare issues.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"15 1","pages":"Pages 14-16"},"PeriodicalIF":0.0,"publicationDate":"2011-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S2171-9748(11)70004-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86316502","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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