Results 51 to 60 of about 70,208 (264)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +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

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

A mRNA Vaccine for Crimean–Congo Hemorrhagic Fever Virus Expressing Non-Fusion GnGc Using NSm Linker Elicits Unexpected Immune Responses in Mice

Viruses
Crimean–Congo hemorrhagic fever (CCHF), caused by Crimean–Congo Hemorrhagic virus (CCHFV), is listed in the World Health Organization’s list of priority diseases.
Tong Chen, Zhe Ding, Xuejie Li, Yingwen Li, Jiaming Lan, Gary Wong   +5 more
doaj   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Historical birth records from 1896 to 1944 from the Basel maternity hospital, Switzerland, reveal significant obstetric selection pressures

The Anatomical Record, EarlyView.
Abstract Maternal and neonatal morbidity and mortality have declined dramatically during the last century. Historical data are therefore important sources to study the evolutionary selection pressures related to childbirth and how they have fluctuated over time.
Mirella Woodert, Guillermo Bravo Morante, Viktoria A. Krenn, Cédric Cordey, Nicole Torres‐Tamayo, Kaspar Staub, Nicole M. Webb, Martin Haeusler   +7 more
wiley   +1 more source

Ultrastructural Features of Human Liver Specimens from Patients Who Died of Dengue Hemorrhagic Fever

Tropical Medicine and Infectious Disease, 2019
Recent advances in electron microscopy and tomography have revealed distinct virus-induced endoplasmic reticulum (ER) structures unique for dengue virus (DV) and other flaviviruses in cell culture models, including hepatocytes.
Min Min Win, Komgrid Charngkaew, Nuntaya Punyadee, Khin Saw Aye, Ne Win, Urai Chaisri, Nusara Chomanee, Panisadee Avirutnan, Sutee Yoksan, Prida Malasit   +9 more
doaj   +1 more source

Duck Orbivirus and Egg Production: A Newly Identified Duck Orbivirus Is the Etiological Agent of Egg Production Decline in Chinese Breeder Ducks

Animal Research and One Health, EarlyView.
Field samples from breeder duck farms with egg‐production decline were subjected to viral detection, genome sequencing, and virus isolation. Experimental infection demonstrated that duck orbivirus (DORV) causes a significant and persistent reduction in egg production in breeder ducks.
Bing Li, Jianhua Wang, Xuezhi Cui, Xinxing Chu, You Wang, Dongmin Hao, Mingqing Xu, Haixia Chang, Huihui Li, Mingtian Mao, Mian Wu, Chengguang Lu, Jing Tang, Suyun Liang, Zhanbao Guo, Zhengkui Zhou, Youxiang Diao, Shuisheng Hou, Yi Tang   +18 more
wiley   +1 more source

Epidemic Hemorrhagic Fever [PDF]

American Journal of Public Health and the Nations Health, 1953
F W, PRUITT, E A, CLEVE
openaire   +4 more sources