International Medical Review on Down Syndrome最新文献_第3页

Prenatal diagnosis of trisomy 21 and semilobar holoprosencephaly. Presentation of a rare association 21三体和半叶前脑无裂畸形的产前诊断。介绍一个罕见的协会

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/j.sdeng.2015.10.002

J.H. Jiménez , D. Gallo , H. Pachajoa , E.F. Carrillo , R. Cifuentes , A. Valderrama

{"title":"Prenatal diagnosis of trisomy 21 and semilobar holoprosencephaly. Presentation of a rare association","authors":"J.H. Jiménez , D. Gallo , H. Pachajoa , E.F. Carrillo , R. Cifuentes , A. Valderrama","doi":"10.1016/j.sdeng.2015.10.002","DOIUrl":"https://doi.org/10.1016/j.sdeng.2015.10.002","url":null,"abstract":"<div><p><span>We present the first case reported in the Republic of Colombia of associated trisomy 21-holoprosencephaly, one of the few in the world literature. The patient was a male newborn, the son of a healthy primiparous 19 year old. An obstetric sonogram at 27 weeks gestation revealed the foetus with both cerebral ventricles dilated, semilobar holoprosencephaly and cleft lip and palate. The mother received a detailed ultrasound scan and amniocentesis for foetal cytogenetic study. A caesarean section was performed at 38 weeks. The newborn weighed 2200</span>         <!-->h of life, the newborn expired from respiratory arrest.</p><p>Prenatal chromosome analysis presented a 47, XY, +21 G-band karyotype. Postnatal cytogenetic analysis, performed on umbilical cord blood using the fluorescent in situ hybridisation (FISH) technique with a locus specific identifier (LSI) 13/21 probe, showed the formula: nuc ish (D13ZX2), (D21ZX3) [30].</p><p>The cytogenetic aetiology of chromosome 21 and the holoprosencephaly gene are discussed, focusing on the fact that cytogenetic and gene alterations could function synergically and coincide in their expression with the postulate of the multiple-hit process.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"20 2","pages":"Pages 25-28"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sdeng.2015.10.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72258103","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

Pulmonary function in young adults with Down syndrome: A cross-sectional study 唐氏综合征青年肺功能的横断面研究

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/j.sdeng.2015.05.004

C. Salgueirinho , J. Venâncio , A.M. Martín-Nogueras , F. Ribeiro

{"title":"Pulmonary function in young adults with Down syndrome: A cross-sectional study","authors":"C. Salgueirinho , J. Venâncio , A.M. Martín-Nogueras , F. Ribeiro","doi":"10.1016/j.sdeng.2015.05.004","DOIUrl":"https://doi.org/10.1016/j.sdeng.2015.05.004","url":null,"abstract":"<div><h3>Aim</h3><p>To compare the pulmonary function of young adults with Down syndrome (DS) with healthy subjects.</p></div><div><h3>Methods</h3><p>Thirty-four young adults (17 with DS and 17 apparently healthy controls), aged 20–40, participated in this study. Anthropometric variables and lung function, namely forced expiratory volume in one second (FEV<sub>1</sub><span>), forced vital capacity (FVC), peak expiratory flow (PEF), and the fraction of FVC expired in one second (FEV</span><sub>1</sub>/FVC%), were assessed in both groups.</p></div><div><h3>Results</h3><p>The group of young adults with DS had a lower height and higher body mass index (31.4±4.6 vs. 23.4±1.3kg/m<sup>2</sup>, <em>p</em>  <span>0.001). As regards pulmonary function, the group of participants with DS showed significantly lower values for PEF (238.4</span>     ≤0.001), FVC (2.2±0.7 vs. 3.1±0.4L, <em>p</em>       ≤0.001), when compared to subjects of the control group. No changes were observed in FEV<sub>1</sub>/FVC%. An inverse correlation was observed between the body mass index and the PEF (<em>r</em>  <0.001), the FVC (<em>r</em>  =0.001), and the FEV<sub>1</sub> (<em>r</em>  <0.001).</p></div><div><h3>Conclusion</h3><p>Young adults with DS showed reduced pulmonary function in comparison to age-matched controls. Additionally, the pulmonary function was inversely correlated with body mass index.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"20 2","pages":"Pages 17-20"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sdeng.2015.05.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72258105","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

Prenatal diagnosis of trisomy 21 and semilobar holoprosencephaly. Presentation of a rare association 21三体和半叶前脑全裂畸形的产前诊断。一种罕见关联的呈现

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/J.SDENG.2015.10.002

J. H. Jiménez, D. Gallo, H. Pachajoa, E. F. Carrillo, R. Cifuentes, A. Valderrama

引用次数: 1

An additional approach to Down syndrome treatment 唐氏综合症治疗的另一种方法

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/J.SDENG.2016.06.001

A. Serés

引用次数: 0

Association of Down syndrome and tuberous sclerosis and their similarities in m-TOR pathway overactivation. About a case 唐氏综合征和结节性硬化症的相关性及其在m-TOR通路过度激活中的相似性。关于一个案例

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/j.sdeng.2016.04.001

D.A. Echeverry Rivera , F. Ariza Cadena

{"title":"Association of Down syndrome and tuberous sclerosis and their similarities in m-TOR pathway overactivation. About a case","authors":"D.A. Echeverry Rivera , F. Ariza Cadena","doi":"10.1016/j.sdeng.2016.04.001","DOIUrl":"https://doi.org/10.1016/j.sdeng.2016.04.001","url":null,"abstract":"<div><h3>Background</h3><p>The association between Down syndrome and Tuberous sclerosis (DS/TSC) has very rarely been described. These two entities present in common overactivation of the m-TOR system (mammalian rapamycin ligand), which has been related to abnormal neuronal growth, abnormal synaptic transduction and neurotransmitter overstimulation in different brain areas (among others) that result in cognitive retardation and autistic symptoms.</p></div><div><h3>Case summary</h3><p>We present a girl with a diagnosis of DS, with early childhood onset presenting convulsive tonic-clonic seizures and hypopigmented skin plaques. A brain MRI revealed cortical tubers suggestive of TSC. A subsequent echocardiogram showed the presence of multiple endomyocardial lesions suggestive of rhabdomyoma. Further follow-ups showed spontaneous resolution of these cardiac lesions, but persistence of brain disorders. We also describe the refractoriness of the convulsive events despite appropriate treatment with multiple anticonvulsants.</p></div><div><h3>Conclusions</h3><p>Neurological and cardiac implications in patients with DS/TSC association lead to a difficult therapeutic scenario with a high rate of complications, partially due to symptomatic refractoriness. New drugs aimed at the m-TOR signalling pathway could be very useful in this picture, given its relationship to improvement of cognitive impairment and tumours associated with these two entities.</p></div>","PeriodicalId":100720,"journal":{"name":"International Medical Review on Down Syndrome","volume":"20 2","pages":"Pages 21-24"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sdeng.2016.04.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72258104","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

Pulmonary function in young adults with Down syndrome: A cross-sectional study 唐氏综合征青壮年肺功能:一项横断面研究

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/J.SDENG.2015.05.004

C. Salgueirinho, J. Venancio, A. Martín-Nogueras, F. Ribeiro

引用次数: 4

An additional approach to Down syndrome treatment 唐氏综合征的另一种治疗方法

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/j.sdeng.2016.06.001

A. Serés

引用次数: 0

Association of Down syndrome and tuberous sclerosis and their similarities in m-TOR pathway overactivation. About a case 唐氏综合征与结节性硬化症的相关性及其在m-TOR通路过度激活中的相似性。关于一个案例

International Medical Review on Down Syndrome Pub Date : 2016-05-01 DOI: 10.1016/J.SDENG.2016.04.001

D. Rivera, F. A. Cadena

引用次数: 0

Intellectual Disability and Cognitive Impairment in Down Syndrome. From Birth to Old Age 唐氏综合症的智力残疾和认知障碍。从出生到老年

International Medical Review on Down Syndrome Pub Date : 2016-01-01 DOI: 10.1016/j.sdeng.2016.01.001

引用次数: 0

New perspectives 新的视角

International Medical Review on Down Syndrome Pub Date : 2016-01-01 DOI: 10.1016/j.sdeng.2015.12.001

Jesús Flórez

引用次数: 0