Results 21 to 30 of about 9,691,428 (403)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Porcine Epidemic Diarrhea Virus and the Host Innate Immune Response

Pathogens, 2020
Porcine epidemic diarrhea virus (PEDV), a swine enteropathogenic coronavirus (CoV), is the causative agent of porcine epidemic diarrhea (PED). PED causes lethal watery diarrhea in piglets, which has led to substantial economic losses in many countries ...
Shasha Li, Jinping Yang, Zixiang Zhu, Haixue Zheng   +3 more
doaj   +1 more source

Microbial biogeography and ecology of the mouth and implications for periodontal diseases

bioRxiv, 2019
Human-associated microbial communities differ in composition among body sites and between habitats within a site. Patterns of variation in the distribution of organisms across time and space is referred to as ‘biogeography’.
Diana M Proctor, Katie M. Shelef, Antonio Gonzalez, C. D. Long, L. Dethlefsen, A. R. Burns, P. Loomer, G. Armitage, M. Ryder, M. Millman, R. Knight, S. Holmes, D. Relman   +12 more
semanticscholar   +1 more source

The Bacterial Connection between the Oral Cavity and the Gut Diseases

Journal of dentistry research, 2020
More than 100 trillion symbiotic microorganisms constitutively colonize throughout the human body, including the oral cavity, the skin, and the gastrointestinal tract.
Sho Kitamoto, Hiroko Nagao-Kitamoto, R. Hein, T. Schmidt, N. Kamada   +4 more
semanticscholar   +1 more source

Witnessing history: a personal view of half a century in public health [PDF]

, 2018
Former Chief Medical Officer Sir Kenneth Calman recently celebrated 50 years in medicine. It was a period which saw the evolution of the public health agenda from communicable diseases to diseases of lifestyle, the change from a hospital-orientated ...
Bergman, B.P., Calman, K.C., Chandler, A.S., Laing, F.   +3 more
core   +2 more sources

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

An extended genetic recombination map for foot-and-mouth diseases virus.

Journal of General Virology, 1977
The original foot-and-mouth diseases virus recombination map (Lake, Priston & Slade, 1975), which include 35 mutagen-induced ts mutants, has been extended both in detail and size by the mapping of a further 33 ts mutants (9 mutagen-induced and 24 ...
D. Mccahon, W. R. Slade, R. Priston, J. Lake   +3 more
semanticscholar   +1 more source

Does long‐term phenytoin have a place in Dravet syndrome?

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2036-2040, December 2022., 2022
Abstract Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticus, a frequent feature of Dravet syndrome.
George A. Zographos, Sophie J. Russ‐Hall, Ingrid E. Scheffer   +2 more
wiley   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2041-2046, December 2022., 2022
Abstract The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is necessary for quantitative data pooling. We applied the modified Friedreich Ataxia Rating Scale
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
wiley   +1 more source

Potential Histopathological and Immune Biomarkers in Malignant and Non-Malignant Oral Lesions

eJournal of Oral Maxillofacial Research, 2022
Objectives: The presented case-control study was developed to characterize the clinical, histopathological and immunological profile of patients with traumatic injuries, benign neoplasms, potentially malignant oral disorders and malignant neoplasms of ...
Vinícius Gonçalves de Souza, Aparecida de Lourdes Carvalho, Carla Silva Siqueira Miranda, Ludimila Paula Vaz Cardoso   +3 more
doaj   +1 more source