Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.

Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining these uncommon phenotypes. Demographics, clinical data and clinical scales of FSHD1 patients were retrospectively evaluated.

The Role of Immunotherapy in MMR-Deficient Endometrial Carcinoma: State of the Art and Future Perspectives.

This study provides a comprehensive overview of the role of immunotherapy in the treatment of mismatch repair-deficient (MMRd) endometrial carcinomas. Immunotherapy has emerged as a transformative approach in the treatment of MMRd due to the high mutation rate and subsequent PD-1/PD-L1 overexpression seen in these tumors. This review analyzes the current landscape of existing randomized clinical trials, highlighting the efficacy of immune checkpoint inhibitors (ICIs) like pembrolizumab, avelumab, and dostarlimab.

Interpersonal Psychotherapy for the Treatment of Depression in Parkinson's Disease: Results of a Randomized Controlled Trial.

Background: Depression is a common nonmotor complication in Parkinson's disease (PD). However, few studies have evaluated the efficacy of first-line psychological therapies for depression in this patient population.

Objectives: This randomized controlled trial evaluated the efficacy of interpersonal psychotherapy (IPT), an empirically validated intervention for depression that focuses on the bidirectional relationship between mood disturbance and interpersonal and social stressors.

Adverse events in the placebo arm of SOLO2/ENGOT-Ov21 maintenance trial of olaparib in recurrent ovarian cancer.

Background: In women with platinum sensitive recurrent ovarian cancer (PSROC) undergoing maintenance treatment, adverse events (AEs) not attributable to the current treatment are not well understood. We used data from SOLO2/ENGOT-Ov21 to evaluate AEs reported in the placebo arm and to explore their longitudinal trajectories.

Methods: SOLO2/ENGOT-Ov21 (NCT01874353) randomly assigned 295 PSROC participants with a BRCA1/2 mutation to maintenance olaparib tablets (N = 196) or matching placebo (N = 99).

A multi-proxy approach to reconstruct chronology, human mobility, and funerary practices at the Late Bronze-Early Iron Age urnfield of San Valentino (San Vito al Tagliamento, Italy).

The site of San Valentino in San Vito al Tagliamento is one of the main urnfield cemeteries in northeastern Italy. Archaeological excavations carried out in the seventies brought to light a cremation cemetery consisting of mainly urn graves with pottery and metal artefacts as grave goods. These materials suggest that the individuals buried in San Valentino were not an isolated local community but had intense contacts with other north-Adriatic communities, in particular with the neighbouring Veneto area, as suggested by the close similarity of the biconical vessels with those recovered in the graves of Este.