Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity

Autor: Koon-Wing Chan, Chung-Yin Wong, Daniel Leung, Xingtian Yang, Susanna F. S. Fok, Priscilla H. S. Mak, Lei Yao, Wen Ma, Huawei Mao, Xiaodong Zhao, Weiling Liang, Surjit Singh, Mohamed-Ridha Barbouche, Jian-Xin He, Li-Ping Jiang, Woei-Kang Liew, Minh Huong Thi Le, Dina Muktiarti, Fatima Johanna Santos-Ocampo, Reda Djidjik, Brahim Belaid, Intan Hakimah Ismail, Amir Hamzah Abdul Latiff, Way Seah Lee, Tong-Xin Chen, Jinrong Liu, Runming Jin, Xiaochuan Wang, Yin Hsiu Chien, Hsin-Hui Yu, Dinesh Raj, Revathi Raj, Jenifer Vaughan, Michael Urban, Sylvia van den Berg, Brian Eley, Anselm Chi-Wai Lee, Mas Suhaila Isa, Elizabeth Y. Ang, Bee Wah Lee, Allen Eng Juh Yeoh, Lynette P. Shek, Nguyen Ngoc Quynh Le, Van Anh Thi Nguyen, Anh Phan Nguyen Lien, Regina D. Capulong, Joanne Michelle Mallillin, Jose Carlo Miguel M. Villanueva, Karol Anne B. Camonayan, Michelle De Vera, Roxanne J. Casis-Hao, Rommel Crisenio M. Lobo, Ruby Foronda, Vicky Wee Eng Binas, Soraya Boushaki, Nadia Kechout, Gun Phongsamart, Siriporn Wongwaree, Chamnanrua Jiratchaya, Mongkol Lao-Araya, Muthita Trakultivakorn, Narissara Suratannon, Orathai Jirapongsananuruk, Teerapol Chantveerawong, Wasu Kamchaisatian, Lee Lee Chan, Mia Tuang Koh, Ke Juin Wong, Siew Moy Fong, Meow-Keong Thong, Zarina Abdul Latiff, Lokman Mohd Noh, Rajiva de Silva, Zineb Jouhadi, Khulood Al-Saad, Pandiarajan Vignesh, Ankur Kumar Jindal, Amit Rawat, Anju Gupta, Deepti Suri, Jing Yang, Elaine Yuen-Ling Au, Janette Siu-Yin Kwok, Siu-Yuen Chan, Wayland Yuk-Fun Hui, Gilbert T. Chua, Jaime Rosa Duque, Kai-Ning Cheong, Patrick Chun Yin Chong, Marco Hok Kung Ho, Tsz-Leung Lee, Wilfred Hing-Sang Wong, Wanling Yang, Pamela P. Lee, Wenwei Tu, Xi-Qiang Yang, Yu Lung Lau

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian

Externí odkaz: https://doaj.org/article/e0001b5e732a40f496811e7631968120

Successful Treatment of Carbamazepine-Induced Toxic Epidermal Necrolysis With Clinical Gastrointestinal Involvement: A Case Report

Autor: Le Quynh Chi, Nguyen Thi Van Anh, Nguyen Ngoc Quynh Le, Nguyen Thi Thu Ha, Hoang Minh Tien, Tran Minh Dien

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

BackgroundStevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare and life-threatening disease of the skin and mucosal surfaces. Although gastrointestinal manifestations in adults are potential prognostic factors for disease severity,

Externí odkaz: https://doaj.org/article/573f03218b6b48ce9ca81a91dc299ee6

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Autor: Anderson Dik Wai Luk, Pamela P. Lee, Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Nadia Kechout, Deepti Suri, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Orathai Jirapongsananuruk, Tassalapa Daengsuwan, Anju Gupta, Surjit Singh, Amit Rawat, Amir Hamzah Abdul Latiff, Anselm Chi Wai Lee, Lynette P. Shek, Thi Van Anh Nguyen, Tek Jee Chin, Yin Hsiu Chien, Zarina Abdul Latiff, Thi Minh Huong Le, Nguyen Ngoc Quynh Le, Bee Wah Lee, Qiang Li, Dinesh Raj, Mohamed-Ridha Barbouche, Meow-Keong Thong, Maria Carmen D. Ang, Xiao Chuan Wang, Chen Guang Xu, Hai Guo Yu, Hsin-Hui Yu, Tsz Leung Lee, Felix Yat Sun Yau, Wilfred Hing-Sang Wong, Wenwei Tu, Wangling Yang, Patrick Chun Yin Chong, Marco Hok Kung Ho, Yu Lung Lau

Publikováno v: Frontiers in Immunology, Vol 8 (2017)

BackgroundSevere combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been ass

Externí odkaz: https://doaj.org/article/6cf7d8a8836b4783b9c7af7f76f9f8d6

Monte Carlo calculation of the organ equivalent dose and effective dose due to immersion in a 16N beta source in air using the ICRP Reference Phantoms

Autor: Gomez-Ros, Jose M., Moraleda, Montserrat, Arce, Pedro, Bui, Duc-Ky, Dang, Thi-My-Linh, Desorgher, Laurent, Kim, Han Sung, Krstic, Dragana, Kuc, Michal, Le, Ngoc-Thiem, Lee, Yi-Kang, Nguyen, Ngoc-Quynh, Nikezic, Dragoslav, Tyminska, Katarzyna, Vrba, Tomas

Publikováno v: Radiation Measurements 145 (2021) 106612

This work summarises the results of a comparison organized by EURADOS focused on the usage of the ICRP Reference Computational Phantoms. This activity aimed to provide training for the implementation of voxel phantoms in Monte Carlo radiation transpo

Externí odkaz: http://arxiv.org/abs/2112.03846

Intercomparison of neutron personal dose equivalent measured by thermoluminescence dosimeters

Autor: Le, Ngoc-Thiem, Hoang, Thanh-Phi-Hung, Hui, Zhang, Bui, Duc-Ky, Nguyen, Ngoc-Quynh, Hoang, Van-Khanh, Dinh, Tien-Hung, Nguyen, Minh-Cong, Cao, Van-Hiep, Tran, Hoai-Nam

Publikováno v: In Applied Radiation and Isotopes March 2024 205