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Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Clin J Am Soc Nephrol
July 2024
KidGen Collaborative, Australian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Article Synopsis
- About 25% of patients with unexplained kidney failure have a genetic cause, specifically related to monogenic disorders.
- A study explored the effectiveness of whole genome sequencing (WGS) combined with broad gene panel analysis in diagnosing these cases, finding it to be a viable method for identifying genetic mutations.
- Among 100 participants aged ≤50 with stage 5 chronic kidney disease, a genetic diagnosis was reached in 25%, with a higher likelihood of positive results in those with a family history of chronic kidney disease.
[Hygienic hypothesis in immunopathogenesis of inflammatory bowel disease].
Pol Merkur Lekarski
June 2016
Department of Gastroenterology, Main District Hospital, Sosnowiec, Poland.
Over three last decades, it has been noticed that morbidity of immunology-dependent illnesses, like asthma, inflammatory bowel disease or atopic dermatitis, apparently increased. That is the reason to focus on searching and exploring new ideas which could explain etiopathology of those diseases. In etiopathology the role of environmental factors is particularly emphasized.
View Article and Find Full Text PDFHumboldt's spa: microbial diversity is controlled by temperature in geothermal environments.
ISME J
June 2014
Department of Biological Sciences, University of Calgary, Calgary, Alberta, Canada.
Over 200 years ago Alexander von Humboldt (1808) observed that plant and animal diversity peaks at tropical latitudes and decreases toward the poles, a trend he attributed to more favorable temperatures in the tropics. Studies to date suggest that this temperature-diversity gradient is weak or nonexistent for Bacteria and Archaea. To test the impacts of temperature as well as pH on bacterial and archaeal diversity, we performed pyrotag sequencing of 16S rRNA genes retrieved from 165 soil, sediment and biomat samples of 36 geothermal areas in Canada and New Zealand, covering a temperature range of 7.
View Article and Find Full Text PDFRelationship between prion propensity and the rates of individual molecular steps of fibril assembly.
J Biol Chem
April 2011
National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, 15 Datun Road, Chaoyang District, Beijing, 100101, China.
Peptides and proteins possess an inherent propensity to self-assemble into generic fibrillar nanostructures known as amyloid fibrils, some of which are involved in medical conditions such as Alzheimer disease. In certain cases, such structures can self-propagate in living systems as prions and transmit characteristic traits to the host organism. The mechanisms that allow certain amyloid species but not others to function as prions are not fully understood.
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