Huntington’s disease (HD) is a genetic disorder caused by a CAG trinucleotide expansion in the huntingtin (HTT) gene. Juan de Acosta, Atlántico, a city located on the Caribbean coast of Colombia, is home to the world’s second-largest HD pedigree. Here, we include 291 descendants of this pedigree with at least one family member with HD. Blood samples were collected, and genomic DNA was extracted. We quantified the HTT CAG expansion using an amplicon sequencing protocol. The genetic heterogeneity was measured as the ratio of the mosaicism allele’s read peak and the slippage ratio of the allele’s read peak from our sequence data. The statistical and bioinformatic analyses were performed with a significance threshold of p < 0.05. We found that the average HTT CAG repeat length in all participants was 21.91 (SD = 8.92). Of the 291 participants, 33 (11.3%, 18 females) had a positive molecular diagnosis for HD. Most affected individuals were adults, and the most common primary and secondary alleles were 17/7 (CAG/CCG) and 17/10 (CAG/CCG), respectively. The mosaicism increased with age in the participants with HD, while the slippage analyses revealed differences by the HD allele type only for the secondary allele. The slippage tended to increase with the HTT CAG repeat length in the participants with HD, but the increase was not statistically significant. This study analyzed the genetic and molecular features of 291 participants, including 33 with HD. We found that the mosaicism increased with age in the participants with HD, particularly for the secondary allele. The most common haplotype was 17/7_17/10. The slippage for the secondary allele varied by the HD allele type, but there was no significant difference in the slippage by sex. Our findings offer valuable insights into HD and could have implications for future research and clinical management.

To synthesize empirical evidence on social and emotional wellbeing (SEWB) in Latin American Indigenous populations and its link to cultural practices, collective actions, and community processes. Systematic review with narrative synthesis, thematic analysis, and bibliometric analysis; protocol registered in OSF (DOI: 10.17605/OSF.IO/UB7JD). Scopus, Web of Science, PsycINFO, LILACS, SciELO, and manual searches in Google Scholar. Empirical studies in Latin American Indigenous populations published since 2015 were included. Studies conducted outside the region and documents lacking complete data were excluded. Two-stage screening (title/abstract and full text). Extraction of characteristics and findings. Risk of bias was assessed using the MMAT. A total of 215 records were identified; duplicates were removed (n=19). Twenty-three full texts were assessed for eligibility, and 19 studies were included (Brazil=7, Chile=5, Colombia=4, Ecuador=1, Mexico=1, Peru=1). Notably, the included evidence was predominantly based on qualitative and cross-sectional designs. Three main themes emerged: territory and spirituality as the foundation of SEWB; identity and collective memory as protective factors; and collective action and community organization as mechanisms of care. Indigenous SEWB is configured as a relational and situated process with territorial, spiritual, and community dimensions. From a primary health care perspective, the results suggest that expanding coverage without cultural relevance and acceptability does not guarantee effective access or better health outcomes. Significant gaps remain in longitudinality, culturally relevant measurement, and intervention evaluation, which are relevant to guide programs and services.

Background and objectives: The premanifest phase of Huntington’s disease (HD) is characterized by the absence of motor symptoms and exhibits structural changes in imaging that precede clinical manifestation. This study aimed to analyze volumetric changes identified through brain magnetic resonance imaging (MRI) processed using artificial intelligence (AI) software in premanifest HD individuals, focusing on the relationship between CAG triplet expansion and structural biomarkers. Methods: The study included 36 individuals descending from families affected by HD in the Department of Atlántico. Sociodemographic data were collected, followed by peripheral blood sampling to extract genomic DNA for quantifying CAG trinucleotide repeats in the Huntingtin gene. Brain volumes were evaluated using AI software (Entelai/IMEXHS, v4.3.4) based on MRI volumetric images. Correlations between brain volumes and variables such as age, sex, and disease status were determined. All analyses were conducted using SPSS (v. IBM SPSS Statistics 26), with significance set at p < 0.05. Results: The analysis of brain volumes according to CAG repeat expansion shows that individuals with ≥40 repeats evidence significant increases in cerebrospinal fluid (CSF) volume and subcortical structures such as the amygdalae and left caudate nucleus, along with marked reductions in cerebral white matter, the cerebellum, brainstem, and left pallidum. In contrast, those with <40 repeats show minimal or moderate volumetric changes, primarily in white matter and CSF. Conclusions: These findings suggest that CAG expansion selectively impacts key brain regions, potentially influencing the progression of Huntington’s disease, and that AI in neuroimaging could identify structural biomarkers long before clinical symptoms appear.