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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFBackground: Diarrhoeal diseases claim more than 1 million lives annually and are a leading cause of death in children younger than 5 years. Comprehensive global estimates of the diarrhoeal disease burden for specific age groups of children younger than 5 years are scarce, and the burden in children older than 5 years and in adults is also understudied. We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to assess the burden of, and trends in, diarrhoeal diseases overall and attributable to 13 pathogens, as well as the contributions of associated risk factors, in children and adults in 204 countries and territories from 1990 to 2021.
View Article and Find Full Text PDFWhole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.
Reprod Biol Endocrinol
December 2024
IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain.
Article Synopsis
- Ovarian failure (OF) affects around 1% of women under 40, often with unknown causes, which complicates personalized treatment approaches and highlights the need for genetic research.
- A study of 150 women’s genetic data identified 18 genes with significantly higher rates of genetic variations (SNVs) in those with OF compared to controls, suggesting new biological insights into the condition.
- Experimental validation in fruit flies showed that six of these genes were linked to reduced fertility, and the analysis also identified disruptions in key biological pathways important for ovarian function.
Background: As set out in Sustainable Development Goal 3.3, the target date for ending the HIV epidemic as a public health threat is 2030. Therefore, there is a crucial need to evaluate current epidemiological trends and monitor global progress towards HIV incidence and mortality reduction goals.
View Article and Find Full Text PDFInfection in Rabbits (): Data from an International Survey of Exotic and Small Animal Veterinarians.
Animals (Basel)
November 2024
Division of Comparative Pathology, Department of Pathology & Laboratory Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
In 2022-2023, the first survey of clinicians regarding infection of rabbits was undertaken. The purpose was to assess the current worldwide knowledge of clinicians regarding influence of breed and age, clinical presentations, use of various diagnostic tools, and treatment regimens and to explore how responses may differ by geographic location. Identifying mostly as exotic animal clinicians, 339 respondents participated, with nearly half from the United States and the remainder from 35 other countries.
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