Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Autor: Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew, Wee Teik Keng, Meow Keong Thong, Mohd Khairul Nizam Mohd Khalid, Liang Choo Hung, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Aisha Md Haniffa, Yusnita Yakob, Lock Hock Ngu

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

Abstract Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondro

Externí odkaz: https://doaj.org/article/3ceceb60b033493d83a1a1fe11a77f3f

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 familiesResearch in context

Autor: Weang-Kee Ho, Nur Tiara Hassan, Sook-Yee Yoon, Xin Yang, Joanna M.C. Lim, Nur Diana Binte Ishak, Peh Joo Ho, Eldarina A. Wijaya, Patsy Pei-Sze Ng, Craig Luccarini, Jamie Allen, Mei-Chee Tai, Jianbang Chiang, Zewen Zhang, Mee-Hoong See, Meow-Keong Thong, Yin-Ling Woo, Alison M. Dunning, Mikael Hartman, Cheng-Har Yip, Nur Aishah Mohd Taib, Douglas F. Easton, Jingmei Li, Joanne Ngeow, Antonis C. Antoniou, Soo-Hwang Teo

Publikováno v: The Lancet Regional Health. Western Pacific, Vol 44, Iss , Pp 101017- (2024)

Summary: Background: Clinical management of Asian BRCA1 and BRCA2 pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) and ovarian cancer (OC) risks estimates. We aimed to refine these estimates using six mu

Externí odkaz: https://doaj.org/article/98fce87ebcdf49c88046d79e3ec0f863

Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.

Autor: Puspa Melati Wan, Affezah Ali, Elise Mognard, Anasuya Jegathevi Jegathesan, Soon Li Lee, Rajalakshmi Ganesan, Mohd Ismail Noor, Amandine Rochedy, Marion Valette, Maïthé Tauber, Meow-Keong Thong, Jean-Pierre Poulain

Publikováno v: PLoS ONE, Vol 19, Iss 8, p e0307874 (2024)

This study aims to explore the food management strategies among caregivers/family members of children with Prader-Willi Syndrome (PWS) using the lens of 'familialisation' of a health problem and the sociology of food socialization. Food intake among

Externí odkaz: https://doaj.org/article/baf22083ac464fd8a96a0a330b890e87

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

Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk

Autor: Heamanthaa Padmanabhan, Nur Tiara Hassan, Siu-Wan Wong, Yong-Quan Lee, Joanna Lim, Siti Norhidayu Hasan, Cheng-Har Yip, Soo-Hwang Teo, Meow-Keong Thong, Nur Aishah Mohd Taib, Sook-Yee Yoon

Publikováno v: PLoS ONE, Vol 17, Iss 2 (2022)

There is an increasing number of cancer patients undertaking treatment-focused genetic testing despite not having a strong family history or high a priori risk of being carriers because of the decreasing cost of genetic testing and development of new

Externí odkaz: https://doaj.org/article/d8962a9a727549f79753e8b8e971eb57