Results 101 to 110 of about 61,911 (310)

Improving the performance of outbreak detection algorithms by classifying the levels of disease incidence

, 2013
We evaluated a novel strategy to improve the performance of outbreak detection algorithms, namely setting the alerting threshold separately in each region according to the disease incidence in that region. By using data on hand, foot and mouth disease in
Dinglun Zhou, Wang, Liping, Yang, Weizhong, David L Buckeridge, Dan Zhao, David L. Buckeridge, Zhao, Dan, Shengjie Lai, Zhou, Dinglun, Li, Zhongjie, Zhongjie Li, Lan, Yajia, Lai, Shengjie, Weizhong Yang, Buckeridge, David L, Yajia Lan, Zhang, Honglong, Liping Wang, Honglong Zhang   +18 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Evaluation and comparison of performances of six commercial NSP ELISA assays for foot and mouth disease virus in Thailand

Scientific Reports
ELISA kits that detect antibodies to the non-structural protein (NSP) of the foot-and-mouth disease virus (FMDV), commonly referred to as NSP-ELISA, can distinguish between vaccinated and naturally infected animals.
Kingkarn Boonsuya Seeyo, Amonrat Choonnasard, Jeeranant Chottikamporn, Sopha Singkleebut, Parichart Ngamsomsak, Karnrawee Suanpat, Nagendrakumar Singanallur Balasubramanian, Wilna Vosloo, Katsuhiko Fukai   +8 more
doaj   +1 more source

Phospholipase PLA2G16 Accelerates the Host Interferon Signaling Pathway Response to FMDV

Viruses
PLA2G16 is a member of the phospholipase A2 family that catalyzes the generation of lysophosphatidic acids (LPAs) and free fatty acids (FFAs) from phosphatidic acid. Previously, PLA2G16 was found to be a host factor for picornaviruses.
Bingjie Sun, Xiaodong Qin, Taoqing Zhang, Sujie Dong, Yinbo Ye, Changying Wang, Yan Zhang, Rongzeng Hao, Yi Ru, Hong Tian, Haixue Zheng   +10 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Epizootiological study of foot and mouth disease in the Sudan: the situation after two decades

, 2010
Radi pružanja informacija o sadašnjem stanju slinavke i šapa u Sudanu provedena su serološka istraživanja te je prikazana njezina pojavnost. Svježe prikupljeni podatci o pojavi slinavke i šapa u Sudanu pokazali su da ona predstavlja veliku prepreku ...
Habiela, Mohammed, Ali, Yahia H., Alamin, Mohammed A. G., Yahia H. Ali, Yazeed A. Raouf, Mohammed Habiela, Mohammed A. G. Alamin, Raouf, Yazeed A.   +7 more
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Re-emergence of foot-and-mouth disease in the Republic of Korea caused by the O/ME-SA/Ind-2001e lineage

Frontiers in Veterinary Science
The O/ME-SA/Ind-2001e foot-and-mouth disease virus (FMDV) lineage is a pandemic strain that has recently become dominant within East and Southeast Asia. During May 2023, this viral lineage spread to the Republic of Korea, where 11 outbreaks were detected
Soyoon Ryoo, Hyeonjeong Kang, Da-Rae Lim, Jae-Myung Kim, Youngwoo Won, Ji Ye Kim, Donald P. King, Antonello Di Nardo, Sang-Ho Cha   +8 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source