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This study presents evidence of the validity and reliability of scores for the newly developed Brazilian Portuguese version of the Delaware School Climate Survey-Student (Brazilian DSCS-S). The sample consisted of 378 students, grades 5 through 9, attending four private and three public schools in southern Brazil. Confirmatory factor analyses supported both a bifactor model and a six-factor model, but support was stronger for the latter. Most scores across factors correlated significantly with students' self-reported cognitive-behavioral and emotional engagement in school. As discussed, the Brazilian DSCS-S provides schools with a useful tool for conducting needs assessments and evaluating programs in Brazilian schools.

Summary: Ischaemic stroke is a common complication of sickle cell disease (SCD) and without intervention can affect 11% of children with SCD before the age of 20. Within the Trans‐Omics for Precision Medicine (TOPMed), a genome‐wide association study (GWAS) of ischaemic stroke was performed on 1333 individuals with SCD from Brazil (178 cases, 1155 controls). Via a novel Cox proportional‐hazards analysis, we searched for variants associated with ischaemic stroke occurring at younger ages. Variants at genome‐wide significance (p < 5 × 10−8) include two near genes previously linked to non‐SCD early‐onset stroke (<65 years): ADAMTS2 (rs147625068, p = 3.70 × 10−9) and CDK18 (rs12144136, p = 2.38 × 10−9). Meta‐analysis, which included the independent SCD cohorts Walk‐PHaSST and PUSH, exhibited consistent association for variants rs1209987 near gene TBC1D32 (p = 3.36 × 10−10), rs188599171 near CUX1 (p = 5.89 × 10−11), rs77900855 near BTG1 (p = 4.66 × 10−8), and rs141674494 near VPS13C (1.68 × 10−9). Findings from this study support a multivariant model of early ischaemic stroke risk and possibly a shared genetic architecture between SCD individuals and non‐SCD individuals younger than 65 years. [ABSTRACT FROM AUTHOR]

Limb-girdle muscular dystrophy (LGMD) is a group of clinically and genetically heterogeneous neuromuscular disorders. LGMD-R7, which is caused by telethonin gene (TCAP) mutations, is one of the rarest forms of LGMD, and only a small number of LGMD-R7 cases have been described and mostly include patients from Brazil. A total of two LGMD-R7 patients were enrolled at a Chinese neuromuscular center. Demographic and clinical data were collected. Laboratory investigations and electromyography were performed. Routine and immunohistochemistry staining of muscle specimens was performed, and a next-generation sequencing panel array for genes associated with hereditary neuromuscular disorders was used for analysis. The patients exhibited predominant muscle weakness. Electromyography revealed myopathic changes. The muscle biopsy showed myopathic features, such as increased fiber size variation, muscle fiber atrophy and regeneration, slight hyperplasia of the connective tissue, and disarray of the myofibrillar network. Two patients were confirmed to have mutations in the open reading frame of TCAP by next-generation sequencing. One patient had compound heterozygous mutations, and the other patient harbored a novel homozygous mutation. Western blotting analysis of the skeletal muscle lysate confirmed the absence of telethonin in the patients. We described two LGMD-R7 patients presenting a classical LGMD phenotype and a novel homozygous TCAP mutation. Our research expands the spectrum of LGMD-R7 due to TCAP mutations based on patients from a Chinese neuromuscular center. [ABSTRACT FROM AUTHOR]