Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .

Beyond Risk Factors: Spinal Epidural Abscess in a Young, Healthy Patient.

Epidural abscess is a rare complication of neuraxial techniques, which, when left unnoticed, can lead to significant neurological deficits and poor outcomes. Identification of patients at high risk and the conduct of a strict aseptic technique are some of the measures that play an important role in epidural abscess prevention. Prompt recognition and treatment of epidural abscesses are essential.

A new Ceratomyxa (Cnidaria: Myxosporea) infecting the ornamental fish species Pterophyllum scalare from the Amazon Region, Brazil.

A new parasite of the Class Myxozoa is described in the gallbladder of the ornamental angelfish Pterophyllum scalare, in two municipalities in the state of Amapá, Brazil, based on morphological, morphometric and phylogenetic descriptions. From October 2022 to August 2024 fifty-five angelfish specimens were sampled in Macapá (n=10) and Tartarugalzinho (n=45). Slightly arched mixospores were observed by light microscopy and had characteristics consistent with those of the genus Ceratomyxa.

Exploring multi-media geochemical relationships in the southeastern Amazonian basin: A way forward to define source and background levels of potentially toxic elements in lake sediments.

Understanding geochemical source-sink relationships is an important aspect for developing background values of potentially toxic elements (PTEs) in a lake basin. This approach was studied in the Araguaia belt of Amazonia, Brazil. A total of 96 sediments (from 13 lake cores LA1-LA13), 36 surface soils, and 19 catchment rocks were collected in 2022 and chemical analysis of these samples was performed in the fine fraction (< 177 μm) using XRF and ICP-MS.

B-cell dynamics underlying poor response upon split-inactivated influenza virus vaccination.

This investigation elucidated the differences in humoral and H1N1 HA-specific memory B-cells response in participants exhibiting distinct immune response patterns prior to and after vaccination with Fluzone, the quadrivalent split-inactivated seasonal influenza virus vaccine. Participants were categorized into persistent non-responders and persistent responders based on their hemagglutination-inhibition (HAI) antibody titers to the H1N1 component from each vaccine administered between the 2019-2020 to 2023-2024 seasons. Persistent responders had higher fold change in H1N1 HA-specific CD21 expressing B-cells, plasmablasts, and plasma cells.