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Fragile X Syndrome: a Review of Clinical Management

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Fragile X Syndrome: a Review of Clinical Management ISSN 2186-3644 Online ISSN 2186-361X IRDR Intractable & Rare Diseases Research Volume 5, Number 3 August, 2016 www.irdrjournal.com ISSN: 2186-3644 Online ISSN: 2186-361X CODEN: IRDRA3 IRDR Issues/Year: 4 Intractable & Rare Diseases Research Language: English Publisher: IACMHR Co., Ltd. Intractable & Rare Diseases Research is one of a series of peer-reviewed journals of the International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA- BSSA) Group and is published quarterly by the International Advancement Center for Medicine & Health Research Co., Ltd. (IACMHR Co., Ltd.) and supported by the IRCA-BSSA, Shandong Academy of Medical Sciences, and Shandong Rare Disease Association. Intractable & Rare Diseases Research devotes to publishing the latest and most significant research in intractable and rare diseases. Articles cover all aspects of intractable and rare diseases research such as molecular biology, genetics, clinical diagnosis, prevention and treatment, epidemiology, health economics, health management, medical care system, and social science in order to encourage cooperation and exchange among scientists and clinical researchers. Intractable & Rare Diseases Research publishes Original Articles, Brief Reports, Reviews, Policy Forum articles, Case Reports, News, and Letters on all aspects of the field of intractable and rare diseases research. All contributions should seek to promote international collaboration. IRCA-BSSA Group Journals ISSN: 1881-7815 ISSN: 1881-7831 ISSN: 2186-3644 Online ISSN: 1881-7823 Online ISSN: 1881-784X Online ISSN: 2186-361X CODEN: BTIRCZ CODEN: DDTRBX CODEN: IRDRA3 Issues/Year: 6 Issues/Year: 6 Issues/Year: 4 Language: English Language: English Language: English Publisher: IACMHR Co., Ltd. Publisher: IACMHR Co., Ltd. Publisher: IACMHR Co., Ltd. www.biosciencetrends.com www.ddtjournal.com www.irdrjournal.com www.irdrjournal.com i Intractable & Rare Diseases Research Editorial and Head Office Tel: +81-3-5840-9968, Fax: +81-3-5840-9969 Pearl City Koishikawa 603, 2-4-5 Kasuga, Bunkyo-ku, E-mail: [email protected] Tokyo 112-0003, Japan URL: www.irdrjournal.com Editorial Board Editor-in-Chief: Co-Editors-in-Chief: Masatoshi MAKUUCHI Jinxiang HAN Japanese Red Cross Medical Center, Tokyo, Japan Shandong Academy of Medical Sciences, Jinan, China Chief Director & Executive Editor: Jose-Alain SAHEL Pierre and Marie Curie University, Paris, France Wei TANG The University of Tokyo, Tokyo, Japan Editorial Board Members Tetsuya ASAKAWA Si JIN Shinichi SATO Jiayi ZHOU (Hamamatsu, Japan) (Wuhan, China) (Tokyo, Japan) (Boston, MA, USA) Karen BRØNDUM-NIELSEN Yasuhiro KANATANI Yasuyuki SETO Wenxia ZHOU (Glostrup, Denmark) (Saitama, Japan) (Tokyo, Japan) (Beijing, China) Yazhou CUI Mureo KASAHARA Qingfang SUN (Jinan, China) (Tokyo, Japan) (Shanghai, China) Web Editor: John DART Jun-ichi KIRA ZhiPeng SUN (Crowthorne, UK) (Fukuoka, Japan) (Beijing, China) Yu CHEN Masahito EBINA Toshiro KONISHI Samia TEMTAMY (Tokyo, Japan) (Sendai, Japan) (Tokyo, Japan) (Cairo, Egypt) Clodoveo FERRI Masato KUSUNOKI Yisha TONG Proofreaders: (Modena, Italy) (Mie, Japan) (Heidelberg, Australia) Toshiyuki FUKAO Shixiu LIAO Hisanori UMEHARA Curtis BENTLEY (Gifu, Japan) (Zhengzhou, China) (Ishikawa, Japan) (Roswell, GA, USA) Ruoyan GAI Zhibin LIN Chenglin WANG Thomas R. LEBON (Jinan, China) (Beijing, China) (Shenzhen, China) (Los Angeles, CA, USA) Shiwei GONG Reymundo LOZANO Haibo WANG (Wuhan, China) (New York, NY, USA) (Hong Kong, China) Office Staff: Jeff GUO Kuansheng MA Huijun WANG (Cincinnati, OH, USA) (Chongqing, China) (Shanghai, China) Apolline SONG Toshiro HARA Katia MARAZOVA Qinghe XING (Tokyo, Japan) (Fukuoka, Japan) (Paris, France) (Shanghai, China) Lihui HUANG Chikao MORIMOTO Zhenggang XIONG Editorial and Head (Beijing, China) (Tokyo, Japan) (New Orleans, LA, USA) Office: Reiko HORIKAWA Noboru MOTOMURA Toshiyuki YAMAMOTO (Tokyo, Japan) (Tokyo, Japan) (Tokyo, Japan) Pearl City Koishikawa 603 Takahiko HORIUCHI Masanori NAKAGAWA Huijun YUAN 2-4-5 Kasuga, Bunkyo-ku (Fukuoka, Japan) (Kyoto, Japan) (Beijing, China) Tokyo 112-0003, Japan Yoshinori INAGAKI Jun NAKAJIMA Wenhong ZHANG Tel: +81-3-5840-9968 (Tokyo, Japan) (Tokyo, Japan) (Shanghai, China) Fax: +81-3-5840-9969 Masaru IWASAKI Takashi NAKAJIMA Xianqin ZHANG E-mail: [email protected] (Yamanashi, Japan) (Kashiwazaki, Japan) (Wuhan, China) Baoan JI Ming QIU Yanjun ZHANG (As of January 2016) (Houston, TX, USA) (Shanghai, China) (Cincinnati, OH, USA) Xunming JI Phillips ROBBINS Yumin ZHANG (Beijing, China) (Boston, MA, USA) (Bethesda, MD, USA) Guosheng JIANG Hironobu SASANO Yuesi ZHONG (Jinan, China) (Sendai, Japan) (Guangzhou, China) ii www.irdrjournal.com CONTENTS Volume 5, Number 3, 2016 Policy Forum 140 - 144 Next generation sequencing: Coping with rare genetic diseases in China. David S Cram, Daixing Zhou Reviews 145 - 157 Fragile X syndrome: A review of clinical management. Reymundo Lozano, Atoosa Azarang, Tanaporn Wilaisakditipakorn, Randi J Hagerman 158 - 167 Review of targeted treatments in fragile X syndrome. Andrew Ligsay, Randi J Hagerman 168 - 176 Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy. Bo Bao, Rika Maruyama, Toshifumi Yokota 177 - 184 Endocarditis in left ventricular assist device. Braghadheeswar Thyagarajan, Monisha Priyadarshini Kumar, Rutuja R Sikachi, Abhinav Agrawal 185 - 191 Development of chidamide for peripheral T-cell lymphoma, the first orphan drug approved in China. Xianping Lu, Zhiqiang Ning, Zhibin Li, Haixiang Cao, Xinhao Wang 192 - 201 Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases. Liang Shi, Yazhou Cui, Jing Luan, Xiaoyan Zhou, Jinxiang Han Original Article 202 - 206 Perceptions regarding a range of work-related issues and corresponding support needs of individuals with an intractable disease. Kumiko Imahashi, Reiko Fukatsu, Yasoichi Nakajima, Megumi Nakamura, Tateo Ito, Mariko Horigome, Yuichiro Haruna, Tatsuya Noda, Yasuto Itoyama Brief Reports 207 - 213 Alcohol use dependence in fragile X syndrome. María J Salcedo-Arellano, Reymundo Lozano, Flora Tassone, Randi J Hagerman, Wilmar Saldarriaga www.irdrjournal.com iii CONTENTS (Continued ) 214 - 217 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Keiko Shimojima, Koichi Maruyama, Masahiro Kikuchi, Ayako Imai, Ken Inoue, Toshiyuki Yamamoto Case Reports 218 - 221 Malignant McKittrick-Wheelock syndrome as a cause of acute kidney injury and hypokalemia: Report of a case and review of literature. Sarthak Malik, Bipadabhanjan Mallick, Kunaal Makkar, Vivek Kumar, Vishal Sharma, Surinder Singh Rana 222 - 226 Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz 227 - 230 Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy. Raashda Ainuddin Sulaiman, Marwan Yassin Shaheen, Hamad Al-Zaidan, Zuhair Al-Hassnan, Moeenaldeen Al-Sayed, Zuhair Rahbeeni, Nasir Ahmed Bakshi, Namik Kaya, Mazhor Aldosary, Mohammed Al-Owain 231 - 234 Cystic adventitial disease of the common femoral vein: A case report. Jimei Yu, Chaojun Lu, Xiaohua Pan, Weihua Li Letter 235 - 237 Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. Pooja Palkar, Anahid Kabasakalian, Bonnie Taylor, Ellen Doernberg, Casara Jean Ferretti, Genoveva Uzunova, Eric Hollander Guide for Authors Copyright (This journal was partially supported by a Grant-in-Aid for Scientific Research from Japan Society for the Promotion of Science.) iv www.irdrjournal.com Intractable & Rare Diseases Research. 2016; 5(3):140-144. 140 Policy Forum DOI: 10.5582/irdr.2016.01020 Next generation sequencing: Coping with rare genetic diseases in China David S Cram1,2,*, Daixing Zhou1 1 Berry Genomics Corporation, Beijing, China; 2 Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia. Summary With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients. The advent of new next generation sequencing (NGS) technologies such as whole genome/ exome sequencing, offers an unprecedented opportunity to provide large-scale population screening of the Chinese population to identify the molecular causes of rare genetic diseases. As a surrogate for lack of effective treatments, recent development and implementation of noninvasive prenatal testing (NIPT) in China has the greatest potential, as a single technology, for reducing the number of children born with rare genetic diseases. Keywords: Next generation sequencing (NGS), noninvasive prenatal testing (NIPT), whole exome sequencing (WES), chromosome disease, monogenic disease 1. Introduction monogenic disease is Cystic Fibrosis, with a carrier frequency of 1 in 25 and an incidence of 1 in 2,500 Genetic diseases, categorized as either chromosomal births. Based on the combined disease incidences of or monogenic diseases, affect
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