A rare clinical case of a newborn boy with a diagnosed Potter sequence is presented. The diagnosis was made based on polycystic dysplasia of the kidneys, cysts in the liver, hypoplasia of the lungs and characteristic external signs due to critical oligohydramnios. The child's parents were closely related, which suggested an autosomal recessive form of the disease. The newborn lived for 15 hours, after which the death, developed as a result of respiratory failure, was ascertained.
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http://dx.doi.org/10.17116/patol20248601149 | DOI Listing |
MicroPubl Biol
January 2025
Hicks Honors College, University of North Florida, Jacksonville, Florida, United States.
Gordonia phage Petito is a newly discovered siphovirus that infects NRRL B-16540. The double-stranded DNA genome of this phage is 60,447 bp long with 93 predicted protein-coding genes and no tRNAs. Petito is a Cluster DJ phage.
View Article and Find Full Text PDFbioRxiv
January 2025
Ben-May Institute for Cancer Research, The University of Chicago, 929 East 57th Street, Chicago, Illinois 60637, USA.
Insulin degrading enzyme (IDE) is a dimeric 110 kDa M16A zinc metalloprotease that degrades amyloidogenic peptides diverse in shape and sequence, including insulin, amylin, and amyloid-β, to prevent toxic amyloid fibril formation. IDE has a hollow catalytic chamber formed by four homologous subdomains organized into two ~55 kDa N- and C- domains (IDE-N and IDE-C, respectively), in which peptides bind, unfold, and are repositioned for proteolysis. IDE is known to transition between a closed state, poised for catalysis, and an open state, able to release cleavage products and bind new substrate.
View Article and Find Full Text PDFPlants (Basel)
December 2024
Department of Plant Sciences, College of Agricultural and Environmental Sciences, University of California, Davis, CA 95616, USA.
CNS Drugs
January 2025
School of Medicine and Dentistry, Gold Coast Campus, Griffith University, Southport, QLD, 4222, Australia.
Background: Epstein-Barr virus (EBV) is implicated as a necessary factor in the development of multiple sclerosis (MS) and may also be a driver of disease activity. Although it is not clear whether ongoing viral replication is the driver for MS pathology, MS researchers have considered the prospect of using drugs with potential efficacy against EBV in the treatment of MS. We have undertaken scientific and lived experience expert panel reviews to shortlist existing licensed therapies that could be used in later-stage clinical trials in MS.
View Article and Find Full Text PDFJ Neurotrauma
December 2024
Mātai Medical Research Institute, Gisborne, New Zealand.
Athletes in collision sports frequently sustain repetitive head impacts (RHI), which, while not individually severe enough for a clinical mild traumatic brain injury (mTBI) diagnosis, can compromise neuronal organization by transferring mechanical energy to the brain. Although numerous studies target athletes with mTBI, there is a lack of longitudinal research on young collision sport participants, highlighting an unaddressed concern regarding cumulative RHI effects on brain microstructures. Therefore, this study aimed to investigate the microstructural changes in the brains' of high school rugby players due to repeated head impacts and to establish a correlation between clinical symptoms, cumulative effects of RHI exposure, and changes in the brain's microstructure.
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