Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis. In this study, linkage analysis and whole-exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance.

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.

Integrated 3D-Printed Hollow Microneedle Array and Lateral Flow Immunoassay for Point-of-Care Wound Healing Monitoring.

Chronic wound management requires continuous monitoring to assess healing and guide treatment. We developed a hollow microneedle array patch integrated with a lateral flow immunoassay strip to address the need for convenient, home-based diagnostics. This device extracts wound exudate directly from the wound matrix, overcoming the limitations of conventional swab sampling, which relies on surface exudate collection.

Multiplatform Metabolomics: Enhancing the Severity Risk Prognosis of SARS-CoV-2 Infection.

Concerns about the SARS-CoV-2 outbreak (COVID-19) continue to persist even years later, with the emergence of new variants and the risk of disease severity. Common clinical symptoms, like cough, fever, and respiratory symptoms, characterize the noncritical patients, classifying them from mild to moderate. In a more severe and complex scenario, the virus infection can affect vital organs, resulting, for instance, in pneumonia and impaired kidney and heart function.

Phytochemical Profiling by HPLC-ESI-MS/MS and In Vitro Investigation of the Antidiabetic Activity of Cassia bakeriana Bark Extract and Fractions.

Type 2 diabetes mellitus is a global health problem, placing patients at a higher risk of developing cardiovascular diseases and cancer. This study investigates the antidiabetic potential of Cassia bakeriana bark extracts and fractions. We evaluate their ability to inhibit α-amylase and α-glucosidase enzymes and advanced glycation end-products (AGEs).