Results 71 to 80 of about 3,504 (246)

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

Paratyphoid fever and relapsing fever in 1812 Napoleon's devastated army.

During Napoleon's retreat from Russia in 1812,1 countless soldiers of the French army succumbed to infectious diseases, but the responsible pathogen or pathogens remain debated.2,3,4,5 We recovered and sequenced ancient DNA from the teeth of 13 soldiers ...

core   +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

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Detection of bacterial pathogens including potential new species in human head lice from Mali.

PLoS ONE, 2017
In poor African countries, where no medical and biological facilities are available, the identification of potential emerging pathogens of concern at an early stage is challenging.
Nadia Amanzougaghene, Florence Fenollar, Abdoul Karim Sangaré, Mahamadou S Sissoko, Ogobara K Doumbo, Didier Raoult, Oleg Mediannikov   +6 more
doaj   +1 more source

[Report] Paratyphoid fever and relapsing fever in 1812 Napoleon's devastated army

International audienceDuring Napoleon’s retreat from Russia in 1812,1 countless soldiers of the French army succumbed to infectious diseases, but the responsible pathogen or pathogens remain debated.2,3,4,5 We recovered and sequenced ancient DNA from the
Kabral, Helja, Barbieri, Rémi, Scheib, Christiana Lyn, Costedoat, Caroline, Fumey, Julien, Signoli, Michel, Rascovan, Nicolás   +6 more
core   +1 more source

Pearl's causality for integrating ecological datasets: A case study on Myricaria germanica in northern Italy

Applications in Plant Sciences, EarlyView.
Abstract Premise Applied ecology can significantly influence policy decisions on environmental issues. Therefore, research in this field should be as transparent and reproducible as possible. Existing expertise from a broad range of disciplines should also be integrated into ecological research to allow researchers to maximize understanding of complex ...
Kailin Weitkämper, Kilian Rückschloß, Tommaso Sitzia, Bruno Michielon, Silke Werth, Felix Weitkämper   +5 more
wiley   +1 more source

Development of a Technique Using Artificial Membrane for In Vitro Rearing of Body Lice Pediculus humanus humanus

Insects
Human lice are the only hematophagous ectoparasites specific to human hosts. They transmit epidemic typhus, trench fever and relapsing fever, diseases which have already caused millions of deaths worldwide.
Alissa Hammoud, Meriem Louni, Linda Abou-Chacra, Gabriel Haddad, Noelle Mazzotti, Florence Fenollar, Oleg Mediannikov   +6 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

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

Animal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu, Aosi Qi, Shuyu Zhong, Haozhen Du, Shimeng Guo, Hongsheng Ouyang, Hongming Yuan, Daxin Pang, Zicong Xie   +8 more
wiley   +1 more source