Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.

Endophytic Fungi of (Asteraceae): Dereplication of Crude Extracts, Antimicrobial Properties, and Identification of New Tetronic Acid Derivative Produced by .

Endophytic fungi are increasingly being recognized for their diverse metabolites that may exhibit antimicrobial properties. In our study, we isolated seven endophytic fungal strains from , which were identified as , , , , , and (with two isolates from the same species). Furthermore, the antimicrobial activity of the extracts was assessed, revealing that the extract from demonstrated activity against .

Metformin reverses infertility in a mouse model of endometriosis: unveiling disease pathways and implications for future clinical approaches.

Research Question: Does metformin reverse endometriosis-associated infertility?

Design: Endometriosis was induced by transplanting uterus fragments from B6CBAF1 mice into recipients of the same strain. The mice were divided into groups: endometriosis (End, n = 24), sham-operated (Sham, n = 12), endometriosis with metformin (0.5mg/ml) orally administered for 3 months (EndMet, n = 21) and sham-operated metformin-treated (ShamMet, n = 16).

Predicted environmental concentration (PEC), environmental risk assessment (ERA) and prioritization of antiretroviral drugs (ARVs) in seawater from Guarujá (Brazilian coastal zone).

The antiretroviral therapy program's success in managing the human immunodeficiency virus (HIV) has inadvertently led to the release of antiretrovirals (ARVs) into worldwide aquatic ecosystems. However, few studies investigated the risks of ARV loadings that flow continuously to the marine waters of South America (such as Brazil). Against this backdrop, the aims of this study were: (i) to estimate the Predicted Environmental Concentration (PEC) of thirteen ARVs worldwide used in HIV treatment, and which are frequently disposed of in the marine aquatic ecosystems of Guarujá, São Paulo coastline, Brazil.

Complementary Strategies to Identify Differentially Expressed Genes in the Choroid Plexus of Patients with Progressive Multiple Sclerosis.

Multiple sclerosis (MS) is a neurological disease causing myelin and axon damage through inflammatory and autoimmune processes. Despite affecting millions worldwide, understanding its genetic pathways remains limited. The choroid plexus (ChP) has been studied in neurodegenerative processes and diseases like MS due to its dysregulation, yet its role in MS pathophysiology remains unclear.