Search Results (37)

Background: Lung carcinoids—typical and atypical—are rare neuroendocrine tumors (NETs) representing 1–2% of lung cancers. Despite clinicopathological differences, their clinical management often mirrors lung cancer protocols rather than NET-specific recommendations. Objectives: Portray a 12-year real-world experience with lung carcinoids at a Comprehensive Cancer Center, identifying gaps in diagnostic work-up, treatment decision-making, and follow-up. Methods: Retrospective observational cohort study of adult patients with histologically confirmed lung carcinoids diagnosed at IPO Porto between January 2013 and December 2024. Demographic, clinical, imaging, and treatment data were collected from electronic patient records. Analyses were descriptive. Results: Among 179 identified cases, 129 met eligibility criteria. Median age was 62 years (range 18–84); 53.6% were women and 53.5% were non-smokers; 84.5% had ECOG-PS 0–1. The most frequent presentation was respiratory symptoms (34.1%), followed by incidental findings (43.4%, of which ~20% were during staging or surveillance of other cancers). Typical carcinoids accounted for 49.6% and atypical for 43.4%. FDG-PET/CT was requested in 70.9% of cases, including many with typical carcinoid, and SSTR-PET/CT in 64.6% (dual PET in 38.8%). Most patients (65.1%) presented with stage I disease; 17.1% were stage IV. Mean time-to-first treatment was 83 days (range 1–259). Surgery was the first treatment option for 78.3% of patients. Conclusions: This real-world series highlights heterogeneity in diagnostic pathways, excessive FDG-PET use in typical carcinoids, and non-standardized follow-up. Dedicated multidisciplinary lung-NET boards and national reference centers are needed to homogenize and streamline patient management. Full article

The present study employs cluster analysis to segment Bulgarian domestic tourists based on microdata from a nationally representative survey (n = 1003) of summer holidaymakers on the Black Sea coast destinations. The primary objective is to identify homogeneous groups of tourists with similar demographic and behavioural characteristics, thereby enabling the development of more targeted tourism policies and marketing strategies. The methodological framework includes both hierarchical and non-hierarchical (k-means) clustering, applied to standardized variables such as age, household size, satisfaction with various aspects of the tourist experience, and behavioural intentions. The analysis reveals four distinct tourist profiles, each characterized by specific patterns of evaluation and travel behaviour—retirement age loyalists, middle-aged sceptics, younger moderate enthusiasts and young high loyalists. The findings reveal the heterogeneity of the domestic tourism market in Bulgaria and provide a data-driven foundation for enhancing the effectiveness of tourism management and promotional efforts. Full article

Background/Objectives: Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) are effective treatment modalities for patients with peritoneal carcinomatosis (PC), though splenectomy is frequently required and its impact on outcomes remains unclear. Previous studies have evaluated splenectomy as a binary variable without distinguishing surgical indication, potentially obscuring important prognostic differences. This retrospective study aimed to evaluate the impact of splenectomy on postoperative morbidity and survival in patients undergoing CRS + HIPEC. Methods: A retrospective analysis was conducted on 149 patients who underwent CRS + HIPEC between 2018–2022 at a single tertiary center. The study examined patients with various cancer origins, including colorectal, ovarian, gastric, pseudomyxoma peritonei, and malignant peritoneal mesothelioma. Demographic characteristics, surgical procedures, complications, and survival outcomes were comprehensively analyzed. Patients were categorized by splenectomy and further stratified by surgical indication (iatrogenic injury, peritoneal implants, hilar tumor invasion). Results: Splenectomy was associated with longer ICU stay (median 1.5 vs. 1 day, p < 0.001) and hospitalization (median 12 vs. 9 days, p = 0.005). Individual pulmonary complications were more frequent in the splenectomy group, though major complication rates (Clavien–Dindo ≥ 3) were similar (34.7% vs. 21.7%, p = 0.086). When analyzed without stratification by indication, splenectomy showed no impact on OS (median 42.7 vs. 42.2 months, p = 0.665) or DFS (median 32.1 vs. 35.4 months, p = 0.138). However, stratification by indication revealed divergent prognostic effects: splenectomy for peritoneal implants independently predicted worse DFS (OR = 17.814, 95% CI: 3.025–104.894, p = 0.001), while splenectomy for hilar invasion was protective (OR = 0.136, 95% CI: 0.025–0.736, p = 0.021). PCI independently predicted both OS (OR = 1.150 per point, p = 0.006) and DFS (OR = 1.166 per point, p < 0.001). Primary tumor type was not independently prognostic after adjusting for PCI (OS p = 0.345, DFS p = 0.163). Conclusions: Splenectomy during CRS + HIPEC was associated with prolonged intensive care and hospital stays without increasing major complications. Peritoneal implant-related splenectomy predicts worse DFS, likely reflecting extensive disease burden, while hilar invasion-related splenectomy is protective, possibly reflecting more complete regional clearance achieved during en bloc resection to attain CC-0. Given the retrospective nature of this study and the heterogeneous patient population, these findings should be interpreted with caution. Further prospective research with larger, more homogeneous patient cohorts is warranted to definitively establish the long-term implications of splenectomy in CRS + HIPEC procedures. Full article

Background/Objectives: During kidney failure, chronic hemodialysis therapy (HD) is required to replace lost renal function, and patients on regular HD frequently report xerostomia. This systematic review and meta-analysis aims to compare salivary flow rates between patients with kidney failure on HD and healthy controls and to evaluate acute changes in salivary secretion before and after a dialysis session. Methods: A systematic review was conducted in accordance with PRISMA guidelines. PubMed, Web of Science, and Embase were searched for observational studies quantifying salivary flow rates in adult patients with kidney failure on chronic hemodialysis versus healthy controls or pre- versus post-dialysis. Data on salivary flow rates were extracted and stratified by subtype (whole or gland-specific) and condition (stimulated or unstimulated), along with key study characteristics including participant demographics, saliva collection methods, and dialysis duration. Study quality was appraised using NHLBI tools and categorized as poor, fair, or good. Where ≥2 homogeneous datasets existed, random-effects meta-analyses (α = 0.05) were performed to estimate mean differences (95% CI) for each salivary parameter; heterogeneity was evaluated via I². Results: A total of 20 studies (13 cross-sectional, 7 before-after) met inclusion, of which 17 studies (with a total of 1224 HD patients and 548 controls) were meta-analyzed. Compared with controls, HD patients showed lower secretion rates of unstimulated whole saliva (UWS: MD −0.11 mL/min; 95% CI −0.20 to −0.02; I² = 94%) and stimulated whole saliva (SWS: MD −0.77 mL/min; 95% CI −0.94 to −0.60; I² = 92%), whereas stimulated parotid saliva (SPS) did not differ significantly (MD −0.08 mL/min; 95% CI −0.77 to 0.60; I² = 96%). In before-after analyses, both UWS (MD +0.15 mL/min; 95% CI 0.02–0.28; I² = 90%) and SWS (MD +0.20 mL/min; 95% CI 0.14–0.26; I² = 0%) increased immediately post-HD. Conclusions: Despite methodological challenges and population heterogeneity, the evidence indicates salivary hypofunction in HD patients and improvement after hemodialysis. The magnitude of these effects seems influenced by underlying comorbidities (notably diabetes), HD duration, and methodological factors. Since saliva is of major importance to maintaining good oral health, recognizing and managing dry mouth should therefore be part of the comprehensive care of patients with kidney failure. Full article

Urban health planning requires a multi-scalar understanding of the territory, capable of capturing socio-economic inequalities and health needs at the local level. In the case of Rome, current administrative subdivisions—Urban Zones (Zone Urbanistiche)—are too large and internally heterogeneous to serve as effective units for equitable health planning. This study presents a methodology for the territorial redefinition of Rome’s Municipality III, aimed at supporting healthcare planning through an integrated analysis of census sections. These were grouped using a combination of census-based socio-demographic indicators (educational attainment, employment status, single-person households) and real estate values (OMI data), alongside administrative and road network data. The resulting territorial units—21 newly defined Mesoareas—are smaller than Urban Zones but larger than individual census sections and correspond to socio-territorially homogeneous neighborhoods; this structure enables a more nuanced spatial understanding of health-related inequalities. The proposed model is replicable, adaptable to other urban contexts, and offers a solid analytical basis for more equitable and targeted health planning, as well as for broader urban policy interventions aimed at promoting spatial justice. Full article

Gestational diabetes mellitus (GDM) is a growing global health concern due to its impact on maternal and infant health. GDM risk factors vary across populations, but international comparisons using standardised assessment tools are lacking. This study aimed to examine variations in risk factors, demographics and health behaviours among pregnant women at increased risk of GDM across four international sites and to investigate factors associated with maternal body mass index (BMI), a modifiable risk factor for GDM. This cross-sectional study included data from 804 pregnant women in Dublin (n = 213), Bristol (n = 205), Granada (n = 211) and Melbourne (n = 175) identified as having an increased risk of GDM, using the Monash GDM screening tool. Between-site differences were analysed using analysis of variance, Kruskal–Wallis and chi-square tests and factors associated with BMI at each site were examined using multiple linear regression. Despite standardised risk screening, significant heterogeneity was observed between sites in key GDM risk factors, including age (mean range 33.8–36.7 years), BMI (Melbourne 28.9 vs. Granada 26.9 kg/m²), physical activity (34.86–41.77 METs/week) and dietary intake (mean energy 1881–2136 kcal/day). Multiple factors were independently associated with BMI, including education level, ethnicity, health literacy and energy intake, with patterns varying by site. This study challenges the concept of a homogeneous “high-risk” GDM population by revealing substantial variations in risk factors and characteristics across different patient cohorts, highlighting the importance of developing context-sensitive approaches to GDM prevention. Full article

Background: Septic shock is a heterogeneous syndrome with diverse clinical presentations and pathophysiology, yet current management guidelines largely treat it as a homogenous entity. Early risk stratification relies on lactate and different predictive scoring systems, which may not capture the underlying heterogeneity in host responses. Aim: To identify discrete subphenotypes of septic shock using admission demographics and laboratory parameters, and to evaluate their relationship with in-hospital outcomes. Methods: We conducted a retrospective multicenter cohort study of 10,462 adult patients with ICD-10-defined septic shock admitted to intensive care units between 2014 and 2015. We used Two-Step Cluster Analysis using log-likelihood distance and the Bayesian Information Criterion to identify two distinct phenotypes. We compared clusters on baseline characteristics, in-hospital outcomes including mortality, days on mechanical ventilation, vasopressor use, acute kidney injury (AKI), AKI requiring renal replacement therapy (RRT), and ICU and hospital lengths of stay. Results: We identified two clusters (Cluster 1, n = 5355 and Cluster 2, n = 5107) in our study. Cluster 1 showed greater biochemical severity at presentation, including higher median lactate (2.40 vs. 2.20 mmol L⁻¹; p < 0.001), serum creatinine (1.39 vs. 1.20 mg dL⁻¹; p < 0.001), blood urea nitrogen (28 vs. 25 mg dL⁻¹; p < 0.001), and neutrophil-to-lymphocyte ratio (11.12 vs. 10.38; p < 0.001), and a higher mean SOFA score (7.05 ± 3.85 vs. 6.76 ± 3.87; p < 0.001). Despite this, Cluster 1 required mechanical ventilation more frequently (46.1% vs. 42.2%; p < 0.001) and had a higher incidence of AKI (58.1% vs. 55.6%; p = 0.009), including more stage 3 AKI (17.2% vs. 15.2%; p < 0.001) and dialysis (6.6% vs. 5.2%; p = 0.005), yet experienced similar in-hospital mortality (15.4% vs. 15.8%; p = 0.615) and comparable ICU (2.18 vs. 2.26 days; p = 0.254) and hospital lengths of stay (6.63 vs. 6.80 days; p = 0.251). Conclusions: Two septic shock phenotypes were identified, one with marked early organ dysfunction (Cluster 1) and another with milder initial derangements (Cluster 2), yet both showed convergent short-term mortality and lengths of stay despite divergent support needs. These results challenge reliance on single-parameter severity markers and underscore the need for phenotype-guided risk stratification and personalized management strategies in septic shock. Full article

Objective: This study employed advanced biostatistical methods to investigate Interleukin-6 (IL-6), Tumour Necrosis Factor Alpha (TNF-α), and Myeloperoxidase (MPO) levels in serum and plasma samples from patients with severe osteoarthritis (OA) compared to volunteers. The primary aim was to evaluate the diagnostic potential of these biomarkers and address statistical challenges, including non-normal data distribution and non-aged-matched groups. Design: Using Enzyme-Linked Immunosorbent Assays (ELISAs), IL-6, TNF-α, and MPO concentrations were analysed in 58 OA patients and 28 volunteers. Statistical analyses included Shapiro–Wilk tests to assess normality, a Mann–Whitney U (MWU) test to compare biomarker levels, and sensitivity analyses using Rank-based ANCOVA, and regression models were used to address non-normal data distributions and to validate the findings under adjustments for age and gender. Levene’s test was used to evaluate the homogeneity of variables. Results: Serum TNF-α and plasma MPO were significantly higher in OA patients than in volunteers (p < 0.05), while IL-6 levels were non-significant (p = 0.160). MWU tests confirmed significant differences for TNF-α (p = 0.045) and MPO (p = 0.0001). Sensitivity analysis using Rank-based ANCOVA and regression models confirmed the robustness of these biomarkers, with TNF-α (p = 0.037) and MPO (p = 0.0099) retaining statistical significance after adjusting for covariates. IL-6 remained non-significant across all analyses. Conclusions: TNF-α and MPO emerged as statistically robust biomarkers for severe OA, with the serum samples better reflecting inflammation than plasma. These findings underscore the importance of using advanced biostatistical methods such as Rank-based ANCOVA and regression to validate biomarkers, particularly in heterogenous datasets. Future research should incorporate larger, more diverse cohorts and detailed demographic profiling to explore the early diagnostic potential of these biomarkers and further understand OA progression. Full article

Objective(s): The objective of this study was to report our experience with a series of patients with temporal bone fractures from 2019 to 2023 and to evaluate the dilemmas in diagnosing the extent of their ontological injuries through a narrative review of the literature focusing on the classifications of temporal bone fractures. Methods: Data were collected retrospectively from the electronic medical records of patients who presented to the emergency department and were diagnosed with temporal bone fractures using computed tomograms of the head and temporal bone between September 2019 and March 2023. A total of 117 patients were included in the study. Demographic data, fracture classification, mechanism of injury, and presence and/or repair of cerebrospinal fluid (CSF) leak, facial nerve injury (both immediate and delayed), and hearing loss (both immediate and delayed) were also recorded. Results: In total, 49.5% of our cohort were between the ages of 19 and 39, and the majority (66%) were males. The primary cause of the trauma was falls in 41% of patients, followed by motor vehicle accidents (29%), and 70% had a Glasgow Coma Score (GCS) between 13 and 15 at presentation. In total, 92.3% of temporal bone fractures did not involve the otic capsule, and 79.3% were longitudinal fractures. In total, 89% of the CSF leaks were seen in patients with longitudinal fractures. Similarly, 70% of facial nerve deficits were seen in patients with longitudinal and otic capsule-sparing fractures. Conclusion: Diagnosis of facial asymmetry and hearing loss in patients with TBFs can be challenging in acute care settings but was less challenging in our cohort due to patients presenting with good GCSs. Dilemmas in clinical evaluation in the acute care setting are due to poor GCSs, heterogeneity of documentation of injuries, and classification of TBFs. Implementation of universal protocols with homogeneity in the documentation and classification of temporal bone fractures may help improve patient care and prediction of outcomes. Full article

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder, and although the diagnosis is primarily based on clinical criteria, ENMG, as the “gold standard”, does not always show detectable changes. Therefore, our study suggests that alterations in echogenicity and heterogeneity of the phrenic nerve (PN) may serve as potential additional diagnostic tools for ALS. Methods: Our study included 32 patients in the ALS group and 64 individuals in the control group. Each participant underwent an interview and completed questionnaires to collect clinical and demographic data, including age, gender, height, body mass index (BMI), hip and waist circumference, duration of illness, ALS-FRS-R score, comorbidities, and medication use. Ultrasound examinations of the PN were performed by two authors using a high-resolution “Philips EPIQ 7” ultrasound machine equipped with a linear 4–18 MHz transducer. The ALS group participants underwent PN sonography and conduction examinations, arterial blood gas (ABG) analysis, respiratory function tests (RFT), and electroneuromyography (ENMG). Results: The study demonstrated that the phrenic nerve is significantly smaller on both sides in patients with ALS compared to the control group (p < 0.01). Changes in the homogeneity and echogenicity of the PN were also observed on both sides. On the right side, 43.8% of the nerves showed heterogeneity, 40.6% were isoechoic, and 21.9% were hyperechoic. On the left side, 59.4% of the nerves exhibited heterogeneity, 34.4% were isoechoic, and 28.1% were hyperechoic. Moreover, sonography on both sides showed significant correlation with ALS-FRS-R, COMPASS-31, and ENMG results. Conclusions: Our study highlights the importance of phrenic nerve ultrasound as a promising supplementary diagnostic tool for ALS. The significant differences in phrenic nerve size, echogenicity, and homogeneity between patients with ALS and the control group demonstrate that ultrasound imaging can detect morphological changes in the phrenic nerve. Incorporating phrenic nerve ultrasound into routine diagnostic protocols could improve early detection, enhance disease monitoring, and offer a more comprehensive understanding of the neurodegenerative processes in ALS. Full article

Background: The severity of white matter hyperintensity (WMH) in patients with acute lacunar stroke (ALS) may be not completely parallel to cognitive impairment. Controversies persist about the effects of WMH on cognitive dysfunction. It is vital to explore whether the association may be affected by certain factors and whether a subsequent subgroup analysis is necessary. The aim of this study was to evaluate the relationship between WMH and cognitive impairment in acute lacunar stroke patients and the possible causal factors. Methods: We continuously enrolled patients with ALS who were hospitalized at the First Affiliated Hospital of Soochow University between October 2017 and June 2022. The cognitive function of all patients was assessed by using the Montreal Cognitive Assessment (MoCA) scale 14 ± 2 days after the onset of AIS, and the results were adjusted to the education level. The MoCA scale was reevaluated at the 6-month (day 182 ± 7) follow-up by outpatient visit or video. Demographic and clinical data were collected. The manifestations of chronic cerebral small-vessel disease (CSVD), including the total Fazekas score and total CSVD burden score, were assessed with an MRI scan. A mismatch refers to an inconsistency between the severity of WMH and cognitive dysfunction. A Type 1 mismatch refers to cognitive impairment with mild WMH (total Fazekas score = 0–1), and a Type 2 mismatch refers to severe WMH (total Fazekas score = 5–6) in patients with normal cognitive function. Results: Among 213 enrolled ALS patients, 66 patients (31.0%) had cognitive dysfunction, and 40 patients (18.8%) had mismatches. Twenty-seven cases (12.7%) were Type 1 mismatched, and seventeen cases (8.0%) were Type 2 mismatched. Age, gender, fibrinogen and cerebral infarction history were independent risk factors for cognitive impairment in ALS patients. Imaging features, including moderate to severe WMH, deep WMH and the total CSVD burden score, were also independently associated with cognitive impairment. The patients in the mismatched group were older, had more severe deep WMH and had a higher occurrence of depression (p < 0.05). The NIHSS score, depression and microbleeds were significantly different between the Type 1 mismatched group and the matched group (p = 0.018, p = 0.012 and p = 0.047). Patients in the Type 2 mismatched group were male (p = 0.04), had a lower level of fibrinogen (p = 0.005), a lower incidence of CMBs (p = 0.003), a lower total CSVD burden score (p = 0.017), more severe paraventricular WMH (p = 0.035) and milder deep WMH (p = 0.026). Conclusions: Our study examined a homogeneous study cohort of recruited patients with symptomatic ALS. We found heterogeneity between WMH and cognitive function in ALS patients. Despite a similar WMH severity, some baseline clinical features and other conventional CSVD imaging characteristics may account for this heterogeneity phenomenon. Our findings provide data for the early diagnosis and prevention of cognitive impairment in ALS patients and suggest that the severity of WMH is not completely parallel to cognitive impairment. The white matter microstructural injury and remote WMH effects may account for the mismatch phenomenon. More attention should be paid to understanding the underlying mechanisms and finding new imaging markers. Full article

The global COVID-19 pandemic has taken a heavy toll on health, social, and economic costs since the end of 2019. Predicting the spread of a pandemic is essential to developing effective intervention policies. Since the beginning of this pandemic, many models have been developed to predict its pathways. However, the majority of these models assume homogeneous dynamics over the geographic space, while the pandemic exhibits substantial spatial heterogeneity. In addition, spatial interaction among territorial entities and variations in their magnitude impact the pandemic dynamics. In this study, we used a spatial extension of the SEIR-type epidemiological model to simulate and predict the 4-week number of COVID-19 cases in the Charlotte–Concord–Gastonia Metropolitan Statistical Area (MSA), USA. We incorporated a variety of covariates, including mobility, pharmaceutical, and non-pharmaceutical interventions, demographics, and weather data to improve the model’s predictive performance. We predicted the number of COVID-19 cases for up to four weeks in the 10 counties of the studied MSA simultaneously over the time period 29 March 2020 to 13 March 2021, and compared the results with the reported number of cases using the root-mean-squared error (RMSE) metric. Our results highlight the importance of spatial heterogeneity and spatial interactions among locations in COVID-19 pandemic modeling. Full article

Optimal use of Hierarchical Bayesian Model (HBM)-assembled aerosol optical depth (AOD)-PM_2.5 fused surfaces in epidemiologic studies requires homogeneous temporal and spatial fused surfaces. No analytical method is available to evaluate spatial heterogeneity. The temporal case-crossover design was modified to assess the spatial association between four experimental AOD-PM_2.5 fused surfaces and four respiratory–cardiovascular hospital events in 12 km² grids. The maximum number of adjacent lag grids with significant odds ratios (ORs) identified homogeneous spatial areas (HOSAs). The largest HOSA included five grids (lag grids 04; 720 km²) and the smallest HOSA contained two grids (lag grids 01; 288 km²). Emergency department asthma and inpatient asthma, myocardial infarction, and heart failure ORs were significantly higher in rural grids without air monitors than in urban grids with air monitors at lag grids 0, 1, and 01. Rural grids had higher AOD-PM_2.5 concentration levels, population density, and poverty percentages than urban grids. Warm season ORs were significantly higher than cold season ORs for all health outcomes at lag grids 0, 1, 01, and 04. The possibility of elevated fine and ultrafine PM and other demographic and environmental risk factors synergistically contributing to elevated respiratory–cardiovascular chronic diseases in persons residing in rural areas was discussed. Full article

Neuroendocrine neoplasms (NENs) are rare neoplasms with heterogeneous clinical behavior. Alteration in human microbiota was reported in association with carcinogenesis in different solid tumors. However, few studies addressed the role of microbiota in NEN. We here aimed at evaluating the presence of bacterial infiltration in neuroendocrine tumoral tissue. To assess the presence of bacteria, 20 specimens from pancreatic NEN (pan-NEN) and 20 from intestinal NEN (I-NEN) were evaluated through Fluorescent In situ Hybridization and confocal microscopy. Demographic data, pre-operative investigations, operative findings, pathological diagnosis, follow-up, and survival data were evaluated. Among I-NEN, bacteria were detected in 15/20 (75%) specimens, with high variability in microbial distribution. In eight patients, a high infiltration of microorganisms was observed. Among pan-NEN, 18/20 (90%) showed microorganisms’ infiltration, with a homogeneous microbial distribution. Bacterial localization in pan-NEN was observed in the proximity of blood vessels. A higher bacterial infiltration in the tumoral specimen as compared with non-tumoral tissue was reported in 10/20 pan-NEN (50%). No significant differences were observed in mean bacterial count according to age, sex, ki67%, site, tumor stage. Mean bacterial count did not result to be a predictor of disease-specific survival. This preliminary study demonstrates the presence of a significant microbiota in the NEN microenvironment. Further research is needed to investigate the potential etiological or clinical role of microbiota in NEN. Full article

Spinocerebellar ataxias (SCAs) conform a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Five of the most frequent SCAs are caused by a CAG repeat expansion in the exons of specific genes. The SCAs incidence and the distribution of polymorphic CAG alleles vary among populations and ethnicities. Thus, characterization of the genetic architecture of ethnically diverse populations, which have undergone recent admixture and demographic events, could facilitate the identification of genetic risk factors. Owing to the great ethnic diversity of the Mexican population, this study aimed to analyze the allele frequencies of five SCA microsatellite loci (SCA1, SCA2, SCA3, SCA6, and SCA7) in eleven Mexican Native American (MNA) populations. Data from the literature were used to compare the allelic distribution of SCA loci with worldwide populations. The SCA loci allelic frequencies evidenced a certain genetic homogeneity in the MNA populations, except for Mayans, who exhibited distinctive genetic profiles. Neither pathological nor large normal alleles were found in MNA populations, except for the SCA2 pre-mutated allele in the Zapotec population. Collectively, our findings demonstrated the contribution of the MNA ancestry in shaping the genetic structure of contemporary Mexican Mestizo populations. Our results also suggest that Native American ancestry has no impact on the origin of SCAs in the Mexican population. Instead, the acquisition of pathological SCA alleles could be associated with European migration. Full article