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Management of Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome: a Review of the Literature

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Management of Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome: a Review of the Literature ISSN 2186-3644 Online ISSN 2186-361X IRDR Intractable & Rare Diseases Research Volume 6, Number 3 August, 2017 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 Yuesi ZHONG (Hamamatsu, Japan) (Wuhan, China) (Tokyo, Japan) (Guangzhou, China) Karen BRØNDUM-NIELSEN Yasuhiro KANATANI Yasuyuki SETO Jiayi ZHOU (Glostrup, Denmark) (Saitama, Japan) (Tokyo, Japan) (Boston, MA, USA) Yazhou CUI Mureo KASAHARA Jian SUN Wenxia ZHOU (Jinan, China) (Tokyo, Japan) (Guangzhou, China) (Beijing, China) John DART Jun-ichi KIRA Qingfang SUN (Crowthorne, UK) (Fukuoka, Japan) (Shanghai, China) Web Editor: Masahito EBINA Toshiro KONISHI ZhiPeng SUN (Sendai, Japan) (Tokyo, Japan) (Beijing, China) Yu CHEN Clodoveo FERRI Masato KUSUNOKI Samia TEMTAMY (Tokyo, Japan) (Modena, Italy) (Mie, Japan) (Cairo, Egypt) Toshiyuki FUKAO Shixiu LIAO Yisha TONG Proofreaders: (Gifu, Japan) (Zhengzhou, China) (Heidelberg, Australia) Ruoyan GAI Zhibin LIN Hisanori UMEHARA Curtis BENTLEY (Jinan, China) (Beijing, China) (Ishikawa, Japan) (Roswell, GA, USA) Shiwei GONG Reymundo LOZANO Chenglin WANG Thomas R. LEBON (Wuhan, China) (New York, NY, USA) (Shenzhen, China) (Los Angeles, CA, USA) Jeff GUO Kuansheng MA Haibo WANG (Cincinnati, OH, USA) (Chongqing, China) (Hong Kong, China) Office Staff: Toshiro HARA Katia MARAZOVA Huijun WANG (Fukuoka, Japan) (Paris, France) (Shanghai, China) Apolline SONG Lihui HUANG Chikao MORIMOTO Qinghe XING (Tokyo, Japan) (Beijing, China) (Tokyo, Japan) (Shanghai, China) Reiko HORIKAWA Noboru MOTOMURA Zhenggang XIONG Editorial and Head (Tokyo, Japan) (Tokyo, Japan) (New Orleans, LA, USA) Office: Takahiko HORIUCHI Masanori NAKAGAWA Toshiyuki YAMAMOTO (Fukuoka, Japan) (Kyoto, Japan) (Tokyo, Japan) Pearl City Koishikawa 603 Yoshinori INAGAKI Jun NAKAJIMA Huijun YUAN 2-4-5 Kasuga, Bunkyo-ku (Tokyo, Japan) (Tokyo, Japan) (Beijing, China) Tokyo 112-0003, Japan Masaru IWASAKI Takashi NAKAJIMA Wenhong ZHANG Tel: +81-3-5840-9968 (Yamanashi, Japan) (Kashiwazaki, Japan) (Shanghai, China) Fax: +81-3-5840-9969 Baoan JI Ming QIU Xianqin ZHANG E-mail: [email protected] (Houston, TX, USA) (Shanghai, China) (Wuhan, China) Xunming JI Phillips ROBBINS Yanjun ZHANG (As of February 2017) (Beijing, China) (Boston, MA, USA) (Cincinnati, OH, USA) Guosheng JIANG Hironobu SASANO Yumin ZHANG (Jinan, China) (Sendai, Japan) (Bethesda, MD, USA) ii www.irdrjournal.com CONTENTS Volume 6, Number 3, 2017 Reviews 152 - 157 Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens 158 - 162 Fetal pleural effusion and Down syndrome. Li Cao, Yan Du, Ling Wang 163 - 171 Pulmonary hypertension associated with antiphospholipid antibody: Call for a screening tool? Rukma Parthvi, Rutuja R Sikachi, Abhinav Agrawal, Ajay Adial, Abhinav Vulisha, Sameer Khanijo, Arunabh Talwar 172 - 176 Surgical treatments for patients with recurrent bile duct stones and Oddis sphincter laxity. Boxuan Zhou, Jinxiong Hu, Yuesi Zhong Original Articles 177- 182 A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. Toshiyuki Seto, Takashi Hamazaki, Satsuki Nishigaki, Satoshi Kudo, Haruo Shintaku, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto 183 - 190 Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study. José Francisco da Silva Franco, Regina El Dib, Arnav Agarwal, Diogo Soares, Noala Vicensoto Moreira Milhan, Lilian Maria José Albano, Chong Ae Kim 191 - 198 Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013. Abhinav Agrawal, Abhishek Agarwal, Dhruv Mehta, Rutuja R Sikachi, Doantrang Du, Janice Wang 199 - 202 Theory and practice of laparoscopic surgery against omohyoid muscle syndrome. Zhipeng Sun, Yubing Zhu, Nengwei Zhang Brief Report 203 - 205 Laparoscopic resection of ectopic pheochromocytoma. Hanhui Cai, Yuhua Zhang, Zhiming Hu www.irdrjournal.com iii CONTENTS (Continued ) Case Reports 206 - 210 Osteomyelitis due to multiple rare infections in a patient with idiopathic CD4 lymphocytopenia. Nitin Gupta, Sayantan Banerjee, Timitrov, Rohini Sharma, Shambo Guha Roy, Trupti M Shende, Mohammed Tahir Ansari, Gagandeep Singh, Neeraj Nischal, Naveet Wig, Manish Soneja 211 - 214 Rare case of ameloblastoma with pulmonary metastases. Ivan Valkadinov, Nikolay Conev, Dian Dzhenkov, Ivan Donev 215 - 218 Filarial huge splenomegaly dramatically regressed by antifilarial medication: A rare clinical scenario. Ayan Basu, Arvind Kumar, Smita Manchanda, Naveet Wig 219 - 223 Sigmoid volvulus in young patients: Ą new twist on an old diagnosis. Moaziz Sarfaraz, Syeda Rana Hasan, Shahid Lateef 224 - 229 Metastatic neuroendocrine tumor of the esophagus with features of medullary thyroid carcinoma. Raymond M Fertig, Adam Alperstein, Carlos Diaz, Kyle D Klingbeil, Sameera S. Vangara, Ryosuke Misawa, Jennifer Reed, Sudeep Gaudi 230 - 233 A case of leprosy, erythema nodosum leprosum, and hemophagocytic syndrome: A continuum of manifestations of same agent-host interactions. Prasan Kumar Panda, Ramjas Prajapati, Arvind Kumar, Manisha Jana, Pradeep Immanuel, Pranay Tanwar4, Naveet Wig Correction E1 Correction: Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome 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. 2017; 6(3):152-157. 152 Review DOI: 10.5582/irdr.2017.01040 Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature Alexandre Fabre1,2,*, Patrice Bourgeois2,3, Marie-Edith Coste1, Céline Roman1, Vincent Barlogis4, Catherine Badens2,3 1 Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone, APHM, Marseille, France; 2 Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France; 3 Service de génétique moléculaire, Hôpital de la Timone Enfant, APHM, Marseille, France; 4 Service d’hématologie pédiatrique, Hôpital de la Timone, APHM, Marseille, France. Summary Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37, 14 of SKIV2L. Parenteral nutrition was used in the management of 83% of the patients and weaned in 44% (mean duration of 14.97 months). Immunoglobulins were used in 33 patients, but data on efficacy was reported for 6 patients with a diminution of infection (n
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