Translational science of rare diseases最新文献_第4页

MZ carrier state in alpha-1 antitrypsin deficiency: Summary of the 16th Gordon L. Snider critical issues workshop, Bethesda, Maryland, November 13, 2017 α -1抗胰蛋白酶缺乏症的MZ载体状态:第16届Gordon L. Snider关键问题研讨会总结，马里兰州贝塞斯达，2017年11月13日

Translational science of rare diseases Pub Date : 2018-06-30 DOI: 10.3233/TRD-180026

M. Brantly, J. D'Armiento, J. Denny, M. Foreman, K. Hanna, D. Lomas, G. Mcelvaney, S. Rowe, S. Sandhaus, E. Silverman, P. Strnad, A. Wanner

引用次数: 0

Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome Allan-Herndon-Dudley综合征中国患者SLC16A2突变

Translational science of rare diseases Pub Date : 2018-06-30 DOI: 10.3233/TRD-180025

Jiaping Wang, Qingping Zhang, Shujie Yu, Xi-ru Wu, X. Bao

{"title":"Novel SLC16A2 mutations in Chinese patients with Allan-Herndon-Dudley Syndrome","authors":"Jiaping Wang, Qingping Zhang, Shujie Yu, Xi-ru Wu, X. Bao","doi":"10.3233/TRD-180025","DOIUrl":"https://doi.org/10.3233/TRD-180025","url":null,"abstract":"We aimed to delineate the clinical profiles of Chinese patients with Allan-Herndon-Dudley Syndrome (AHDS), an X-linked intellectual disability caused by SLC16A2 mutation and affecting males only. Clinical features of five males from four Chinese families, who manifested with severe cognition impairment, developmental delay, hypotonia accompanied by dystonia, were described and summarized. All of them displayed a distinctive thyroid hormone change, with increased FT3, reduced FT4, and normal TSH. Three of them had neuroimaging tests and all presented with hypomyelination. Two of them demonstrated some facial anomalies, including long face, narrow forehead and tent mouth. Targeted next-generation sequencing associated with intellectual disability was performed. Four SLC16A2 mutations (c.916C>T, p.Gln306*; c.61G>T, p.Glu21*; c.695 699delATGGT, p.Asn232Sfs*7; c.42delC, p.Trp15Glyfs*69) were identified, of which three SLC16A2 mutations were novel. Our findings expand mutational spectrumof SLC16A2 and provide support for delineating the clinical features of Chinese patients with AHDS. In addition, this is the first report of AHDS in Chinese cohort. We recommend that male patients with intellectual disability, developmental delay and severe hypotonia, especially those with distinctive thyroid hormone change should be tested for SLC16A2 mutations.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-180025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43878746","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

When Rett syndrome is due to genes other than MECP2. 当Rett综合征是由MECP2以外的基因引起时。

Translational science of rare diseases Pub Date : 2018-04-13 DOI: 10.3233/TRD-180021

Alan K Percy, Jane Lane, Fran Annese, Hannah Warren, Steven A Skinner, Jeffrey L Neul

引用次数: 19

Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. 延长森格斯综合征的表型谱:先天性乳酸性酸中毒伴合成肝功能障碍。

Translational science of rare diseases Pub Date : 2018-04-13 DOI: 10.3233/TRD-180020

David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon

引用次数: 7

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature. 脑-面-胸发育不良(Pascual-Castroviejo综合征):鉴定一种新的突变，使用面部识别分析，并回顾文献。

Translational science of rare diseases Pub Date : 2018-04-13 DOI: 10.3233/TRD-180022

Jennifer A F Tender, Carlos R Ferreira

引用次数: 8

Balance in patients with Marfan syndrome 马凡氏综合征患者的平衡

Translational science of rare diseases Pub Date : 2018-01-01 DOI: 10.3233/TRD-180029

S. Monteleone, Lucia Feltroni, E. Arbustini, E. Bernardi, G. Carenzio, E. D. Toffola, M. Schieppati

{"title":"Balance in patients with Marfan syndrome","authors":"S. Monteleone, Lucia Feltroni, E. Arbustini, E. Bernardi, G. Carenzio, E. D. Toffola, M. Schieppati","doi":"10.3233/TRD-180029","DOIUrl":"https://doi.org/10.3233/TRD-180029","url":null,"abstract":"BACKGROUND: Marfan syndrome (MFS) is an inherited, autosomal dominant disorder that targets the connective tissue. As in other similar disorders, joint hypermobility can contribute to abnormal proprioceptive information from joint receptors, faulty reflex patterns and impairment in balance control. OBJECTIVE: Aim of this study was to analyse static and dynamic balance and the effect of vision in patients with MFS. METHODS: Twenty-seven patients with a proven genetic diagnosis of MFS were enrolled. Twenty-nine healthy subjects were the control group. Balance evaluations (eyes open and eyes closed) were performed by using a computerized force platform that recorded Sway Path (SP) and Sway Area (SA) of centre of feet pressure (CoP) displacement under static and dynamic conditions produced by mobilizing the support base. RESULTS: All control subjects performed the static and dynamic trials regardless of the visual conditions. Two thirds of the Marfan patients gave results superimposable to those of normal subjects’ eyes open. However, sway area measures were significantly larger under eyes closed conditions. One third of the patients did not complete the dynamic trials eyes closed (some of these even with eyes open). CONCLUSIONS: Vision is critical for patients with MFS because of abnormal proprioceptive information, possibly connected to confounding mechanical reflex effects from joints and muscle receptors. It would seem appropriate to plan a rehabilitative approach centred on proprioception in order to prevent the risk of fall.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-180029","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69508380","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: 2

Creating a multi-center rare disease consortium - the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). 创建多中心罕见病联盟--嗜酸性胃肠病研究人员联盟（CEGIR）。

Translational science of rare diseases Pub Date : 2017-12-18 DOI: 10.3233/TRD-170016

Katherine Cheng, Sandeep K Gupta, Susanna Kantor, Jonathan T Kuhl, Seema S Aceves, Peter A Bonis, Kelley E Capocelli, Christina Carpenter, Mirna Chehade, Margaret H Collins, Evan S Dellon, Gary W Falk, Rashmi Gopal-Srivastava, Nirmala Gonsalves, Ikuo Hirano, Eileen C King, John Leung, Jeffrey P Krischer, Vincent A Mukkada, Alain Schoepfer, Jonathan M Spergel, Alex Straumann, Guang-Yu Yang, Glenn T Furuta, Marc E Rothenberg

{"title":"Creating a multi-center rare disease consortium - the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR).","authors":"Katherine Cheng, Sandeep K Gupta, Susanna Kantor, Jonathan T Kuhl, Seema S Aceves, Peter A Bonis, Kelley E Capocelli, Christina Carpenter, Mirna Chehade, Margaret H Collins, Evan S Dellon, Gary W Falk, Rashmi Gopal-Srivastava, Nirmala Gonsalves, Ikuo Hirano, Eileen C King, John Leung, Jeffrey P Krischer, Vincent A Mukkada, Alain Schoepfer, Jonathan M Spergel, Alex Straumann, Guang-Yu Yang, Glenn T Furuta, Marc E Rothenberg","doi":"10.3233/TRD-170016","DOIUrl":"10.3233/TRD-170016","url":null,"abstract":" Eosinophilic gastrointestinal disorders (EGIDs) affect various segments of the gastrointestinal tract. Since these disorders are rare, collaboration is essential to enroll subjects in clinical studies and study the broader population. The Rare Diseases Clinical Research Network (RDCRN), a program of the National Center for Advancing Translational Sciences (NCATS), funded the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) in 2014 to advance the field of EGIDs. CEGIR facilitates collaboration among various centers, subspecialties, patients, professional organizations and patient-advocacy groups and includes 14 clinical sites. It has successfully initiated two large multi-center clinical studies looking to refine EGID diagnoses and management. Several pilot studies are underway that focus on various aspects of EGIDs including novel therapeutic interventions, diagnostic and monitoring methods, and the role of the microbiome in pathogenesis. CEGIR currently nurtures five physician-scholars through a career training development program and has published more than 40 manuscripts since its inception. This review focuses on CEGIR's operating model and progress and how it facilitates a framework for exchange of ideas and stimulates research and innovation. This consortium provides a model for progress on other potential clinical areas.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"2 3-4","pages":"141-155"},"PeriodicalIF":0.0,"publicationDate":"2017-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c3/0b/trd-2-trd016.PMC5757645.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35736149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland. 与临床研究和罕见病相关的伦理问题:第15届Gordon L. Snider关键问题研讨会，2016年4月1日，马里兰州贝塞斯达。

Translational science of rare diseases Pub Date : 2017-12-18 DOI: 10.3233/TRD-170013

Marilyn Coors, Larry Bauer, Kelly Edwards, Karen Erickson, Aaron Goldenberg, John Goodale, Kenneth Goodman, Christine Grady, David Mannino, Adam Wanner, Todd Wilson, Mark Yarborough, Maryan Zirkle

引用次数: 4

Disorders of metal metabolism. 金属代谢紊乱。

Translational science of rare diseases Pub Date : 2017-12-18 DOI: 10.3233/TRD-170015

Carlos R Ferreira, William A Gahl

{"title":"Disorders of metal metabolism.","authors":"Carlos R Ferreira, William A Gahl","doi":"10.3233/TRD-170015","DOIUrl":"10.3233/TRD-170015","url":null,"abstract":"Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. The different electron shells of an atom carry different energy levels, with those closest to the nucleus being lowest in energy. The number of electrons in the outermost shell determines the reactivity of such an atom. The electron shells are divided in sub-shells, and in particular the third shell has s, p and d sub-shells. Transition metals are strictly defined as elements whose atom has an incomplete d sub-shell. This incomplete d sub-shell makes them prone to chemical reactions, particularly redox reactions. Transition metals of biologic importance include copper, iron, manganese, cobalt and molybdenum. Zinc is not a transition metal, since it has a complete d sub-shell. Selenium, on the other hand, is strictly speaking a nonmetal, although given its chemical properties between those of metals and nonmetals, it is sometimes considered a metalloid. In this review, we summarize the current knowledge on the inborn errors of metal and metalloid metabolism.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"2 3-4","pages":"101-139"},"PeriodicalIF":0.0,"publicationDate":"2017-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-170015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 46

Marking 15 years of the Genetic and Rare Diseases Information Center. 标志着遗传和罕见疾病信息中心成立15周年。

Translational science of rare diseases Pub Date : 2017-05-25 DOI: 10.3233/TRD-170011

Janine Lewis, Michelle Snyder, Henrietta Hyatt-Knorr

{"title":"Marking 15 years of the Genetic and Rare Diseases Information Center.","authors":"Janine Lewis, Michelle Snyder, Henrietta Hyatt-Knorr","doi":"10.3233/TRD-170011","DOIUrl":"https://doi.org/10.3233/TRD-170011","url":null,"abstract":"Background: The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences, was established in 2002 to assist the public in finding reliable, timely, and easy-to-understand information about genetic and/or rare diseases in English or Spanish.Objective: A review of longitudinal data on GARD inquiries from 2002 to 2016 and assessment of the results of two user satisfaction surveys were conducted to understand the demographics and needs of GARD customers over time.Methods: Since 2002, GARD has collected anonymized data while responding to questions received via e-mail, website, telephone, fax, letter, or TTY. Between 2002 and 2016 GARD received a total of 60,106 inquiries. User satisfaction surveys were conducted in 2006 and 2014, in which users self-selected to participate.Results: The annual number of inquiries has risen steadily since 2002. Inquiries are overwhelmingly from educated female patients, family, and friends seeking disease-specific information, treatment options, referrals, and research studies. Most users report satisfaction with the experience.Conclusions: Rare disease patients and their families face challenges in finding information about their symptoms or diagnosis, prognosis, treatment options, significance for family members, and research opportunities. Lack of available clinical expertise can leave patients, their family, and friends with little choice but to become knowledgeable on their own. GARD fills a critical need by providing the public with vetted, evidence-based information that empowers people to engage in their own health care and seek research studies of relevance.","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"2 1-2","pages":"77-88"},"PeriodicalIF":0.0,"publicationDate":"2017-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-170011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35618445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 72