CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression. Disrupted lysosomal pH, impaired autophagy, and defective dendritic arborization contribute to these symptoms. Using a zebrafish model, we identified significant impairments in locomotion, anxiety, and aggression, along with subtle deficits in social interactions, positioning zebrafish as a useful model for therapeutic studies in NCL.
View Article and Find Full Text PDFBiallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate the phenotypic and neuronal features observed in patients, no retinal phenotype has been described so far. In a zebrafish knock-out strain that faithfully mirrors the main aspects of ARSACS, we observed impaired visual function due to photoreceptor degeneration, likely caused by cell cycle defects in progenitor cells.
View Article and Find Full Text PDFIntroduction: Precision medicine refers to managing brain tumors according to each patient's unique characteristics when it was realized that patients with the same type of tumor differ greatly in terms of survival, responsiveness to treatment, and toxicity of medication. Precision diagnostics can now be advanced through the establishment of imaging biomarkers, which necessitates quantitative image acquisition and processing. The VASARI (Visually AcceSAble Rembrandt Images) manual annotation methodology is an ideal and suitable way to determine the accurate association between genotype and imaging phenotype.
View Article and Find Full Text PDFLafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the course of the disease and slow its progression. Recently, gliflozins, a series of SGLT2 transporter inhibitors approved for use in type 2 diabetes mellitus, heart failure and chronic kidney disease, have been proposed as possible repositioning drugs for the treatment of LD.
View Article and Find Full Text PDFObjective: We report the first documented case of concurrent ectopic complete hydatidiform mole (CHM) and high-grade serous carcinoma (HGSC) of the fallopian tube, associated with unique histologic features and mutations in the HGSC.
Case Report: The patient presented with pelvic pain and vaginal bleeding. Laboratory examination revealed a positive urine pregnancy test and high serum beta-human chorionic gonadotropin (β-hCG).