Revista Médica Internacional sobre el Síndrome de Down最新文献

Revista Médica Internacional sobre el Síndrome de Down: nuestra revista 国际唐氏综合症医学杂志:我们的杂志

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/j.sd.2017.12.001

K. Trias Trueta

引用次数: 0

Fisiopatología y manejo de la xerosis y alteraciones orales en pacientes con trisomía 21 21三体患者干燥和口腔改变的病理生理学和管理

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/j.sd.2017.10.001

J. Piquero Casals , N. Serra Baldrich , E. Rozas-Muñoz , R. de Monserrat

引用次数: 0

Fisiopatología y manejo de la xerosis y alteraciones orales en pacientes con trisomía 21 21三体患者干燥和口腔改变的病理生理学和管理

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/J.SD.2017.10.001

J. P. Casals, N. S. Baldrich, E. Rozas-Muñoz, R. Monserrat

引用次数: 0

Mielopatía avanzada en personas con síndrome de Down 唐氏综合症患者的晚期骨病

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/J.SD.2017.10.002

J. Finney, J. T. Kryzanski, P. Clave

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Revista Médica Internacional sobre el Síndrome de Down: nuestra revista 国际唐氏综合症医学杂志:我们的杂志

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/j.sd.2017.12.001

K. T. Trueta

引用次数: 0

Mielopatía avanzada en personas con síndrome de Down 唐氏综合症患者的晚期骨病

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-09-01 DOI: 10.1016/j.sd.2017.10.002

J.G. Finney , J.T. Kryzanski

{"title":"Mielopatía avanzada en personas con síndrome de Down","authors":"J.G. Finney , J.T. Kryzanski","doi":"10.1016/j.sd.2017.10.002","DOIUrl":"https://doi.org/10.1016/j.sd.2017.10.002","url":null,"abstract":"<div><h3>Background</h3><p>Myelopathy is a condition that significantly impacts a person's mobility and independence. In people with intellectual disabilities, such as Down syndrome, the negative impact of myelopathy is magnified. Myelopathy in Down syndrome may be related to atlanto-axial instability or degenerative pathology. Our experience with these patients has led us to hypothesize that their myelopathy is commonly undiagnosed until very severe. In this study we seek to determine whether patients with Down syndrome present with more severe myelopathy than those without Down syndrome.</p></div><div><h3>Methods</h3><p>We performed a retrospective medical record review of patients with Down syndrome who were treated for myelopathy by the Tufts Neurosurgical Practice. Eight patients met the criteria and were graded for severity of myelopathy on the Nurick Scale. We compared the patients with cervical spondylotic myelopathy and Down syndrome to patients who were treated for cervical spondylotic myelopathy as reported in Furlan et al. and Fehlings et al.</p></div><div><h3>Results</h3><p>The average Nurick grade for patients with Down syndrome was 4.2 (SD 0.84, n=5). The average Nurick grade as reported by Furlan et al. was 2.8 (SD 0.68, n=81) and by Fehlings et al. was 3.14 (SD 0.97, n=278). The independent samples t-test resulted in a P value<.000 and .016 with Furlan et al. and Fehlings et al. respectively.</p></div><div><h3>Conclusions</h3><p>The patients with Down syndrome in our study presented to neurosurgery with more severe myelopathy than patients without Down syndrome. It is important for physicians caring for people with Down syndrome to be aware of the presentation of myelopathy and consider the condition in the differential diagnosis of a Down syndrome patient with functional decline.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"21 3","pages":"Pages 39-45"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sd.2017.10.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91774660","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

Estudio antropométrico en una población infantil con síndrome de Down 唐氏综合征儿童人群的人体测量学研究

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-05-01 DOI: 10.1016/j.sd.2017.06.002

M. Saneleuterio Temporal , A. Quiles Catalá , J.M. Ortiz Salvador , R. Fernández Delgado Cerdá

{"title":"Estudio antropométrico en una población infantil con síndrome de Down","authors":"M. Saneleuterio Temporal , A. Quiles Catalá , J.M. Ortiz Salvador , R. Fernández Delgado Cerdá","doi":"10.1016/j.sd.2017.06.002","DOIUrl":"10.1016/j.sd.2017.06.002","url":null,"abstract":"<div><h3>Objective</h3><p>Study of anthropometric values in the medical records of a representative group of paediatric patients with Down Syndrome, from the Down Syndrome Unit of the Paediatric Department of Valencia's <em>Hospital Clínico Universitario</em>, from 2000 to 2014.</p></div><div><h3>Patients and methods</h3><p>Descriptive observational study in a group of 140 patients between 1 and 13 years. The group was configured based on the inclusion and exclusion criteria. We extracted data about birth from their first visit, and subsequently patient data at the time of each visit (643 measurements).</p></div><div><h3>Results</h3><p>103 patients with regular trisomy of Down syndrome were recorded and studied. There were 59 (57%) boys and 44 (43%) girls. The records were then analysed and percentiles were calculated.</p></div><div><h3>Discussion</h3><p>The median was compared to that of percentiles from the Catalan Down Syndrome Foundation.</p></div><div><h3>Conclusions</h3><p>We present an observational study with anthropometric measurements of a group of Down syndrome children from Valencia.</p><p>Measurements were lower than those of the WHO for the general population, but similar to those recorded by the Catalan Down Syndrome Foundation. The need to continue using customised Down Syndrome percentiles is reaffirmed, with periodic review of these tables.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"21 2","pages":"Pages 27-32"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sd.2017.06.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78006330","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

Valoración del índice de masa corporal y la composición corporal en el síndrome de Down 唐氏综合征患者的身体质量指数和身体成分评估

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-05-01 DOI: 10.1016/j.sd.2017.06.001

T. Olivetti Artioli, E. Witsmiszyn, A. Belo Ferreira, C. Franchi Pinto

{"title":"Valoración del índice de masa corporal y la composición corporal en el síndrome de Down","authors":"T. Olivetti Artioli, E. Witsmiszyn, A. Belo Ferreira, C. Franchi Pinto","doi":"10.1016/j.sd.2017.06.001","DOIUrl":"10.1016/j.sd.2017.06.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Down syndrome (DS) is the most frequent aneuploidy in the humans. Children with DS have a predisposition to obesity, and it is known that the phenotype of these individuals may lead to a bias in the use of the World Health Organization body mass index (WHO BMI).</p></div><div><h3>Objectives</h3><p>This study proposes the assessment of body composition in individuals with DS using the dual X-ray absorptiometry (DXA) technique, the current gold standard for comparison of its values with those found in general population.</p></div><div><h3>Method</h3><p>Data was collected randomly from patients, such as their BMI and body composition with the DXA machine Lunar Prodigy Advance<sup>®</sup>, with their values compared to literature references and statistically analyzed with their WHO BMI Z-score.</p></div><div><h3>Results</h3><p>45 individuals were analyzed, with a prevalence of 58% of girls, mean age of 11 years old and 35.5% were obese by WHO BMI Z-score; 57.1% of the subgroup of eutrophic individuals with DS by WHO BMI had altered body composition values.</p></div><div><h3>Conclusion</h3><p>The WHO BMI Z-score in patients with DS has a correspondence with the body composition only in individuals classified as overweight or obese by BMI Z-score. It was concluded that BMI is not an appropriate tool to infer the body composition in children with DS.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"21 2","pages":"Pages 23-26"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sd.2017.06.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74343475","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

Treinta años del Centro Médico de la Fundación Catalana Síndrome de Down 三十年的加泰罗尼亚唐氏综合症基金会医疗中心

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-05-01 DOI: 10.1016/j.sd.2017.06.003

J.M. Corretger Rauet

引用次数: 0

Asociación síndrome de Down, malformación anorrectal y hernia de Morgagni: descripción de un caso clínico inusual 唐氏综合征，肛门直肠畸形和Morgagni疝的关联:一个不寻常的临床病例的描述

Revista Médica Internacional sobre el Síndrome de Down Pub Date : 2017-05-01 DOI: 10.1016/j.sd.2017.07.001

Richard J. Vega Duran , Ricardo J. Vega Finsterbusch , Valery Turner

引用次数: 0