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The genetic composition of Amerindian descendants from Patagonia has long been a focus of interest, although the information available is still scarce for many geographic areas. Here, we report the first analysis of the variation in the mitochondrial DNA (mtDNA) control region for an area of northwestern Patagonia, the North of Neuquén, with the aim of studying the processes and historical events that modeled the evolutionary history of these human groups. We analyzed 113 individuals from two localities of northern Neuquén, along with 6 from southern Neuquén and 223 previously published mtDNA sequences from neighboring areas in Argentina and Chile. We estimated the haplotypic variation and spatial structure of molecular variability. Amerindian subhaplogroups predominate in the two samples from northern Neuquén (n = 70), with D1g and C1b13 the most represented, although in different proportions. These samples exhibit Amerindian mtDNA haplotypes similar to the variants from neighboring areas. Most of haplotype variability was within group; variation among groups was relatively low and scarcely associated with geographical space. The most frequent subhaplogroups in northern Neuquén are characteristic of native populations from Patagonia and Chilean Araucanía, and probably originated in the region during the Late Pleistocene or Early Holocene. However, the spatial variation of mtDNA haplotypes departs from a latitudinal pattern and suggests differential levels of gene flow among areas during the Late Holocene, with moderate levels across the North of Neuquén as well as between this area and neighboring populations from Chile, the South of Neuquén, and Río Negro.

El objetivo de este trabajo es estudiar la variación morfológica craneofacial de las poblaciones humanas que habitaron la costa rionegrina del golfo San Matías (Patagonia, Argentina), y áreas vecinas, durante el Holoceno tardío (3.000-400 años AP) y su relación con cambios en la dieta. El registro arqueológico de esta región se caracteriza por presentar información detallada de los contextos ecológicos que permite establecer cambios en la dieta a partir de datos isotópicos y arqueológicos, y un control de la variable cronológica mediante fechados radiocarbónicos. En particular exploramos, mediante el empleo de técnicas de la morfometría geométrica en 2D, una hipótesis que postula la existencia de una relación entre la variación en la morfología craneofacial y los cambios en la dieta ocurridos alrededor de ca. 1.600 años AP en el área. Con este fin se analizó el patrón de cambio morfológico en el modulo facial y la base del cráneo en las poblaciones procedentes de las regiones del golfo San Matías, de la costa norte rionegrina, del valle inferior del río Chubut y de San Blas e Isla Gama, para las cuales se ha postulado la presencia de grados variables de diferencias en la dieta entre los períodos señalados. Nuestros resultados muestran que el patrón de variación morfológica craneofacial observado en el noreste de Patagonia en general, y en el área del golfo de San Matías en particular, es complejo, caracterizado por un comportamiento diferencial de las dos regiones anatómicas estudiadas (el esqueleto facial y la base del cráneo) en relación con la variación ecológica.

Background In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic approach focuses on sequencing a few classic high-risk genes, a method that frequently renders uninformative genetic results. This study aims to examine the improved yield offered by an On-Demand panel. Methods We designed an On-Demand panel for the analysis of 35-genes associated with inherited cancer susceptibility in a total of 128 cases of Hereditary Breast and Ovarian Cancer (HBOC) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Results Eighteen deleterious mutations were detected, in both routinely (BRCA2, MLH1, MSH2, PMS2) and non-routinely (ATM, BLM, BRIP1, CHEK2, MUTYH) tested genes. The screening extended to 35 genes rendered by patients carrying several- up to 6-Variants of Unknown Significance (VUS). Moreover, we confirmed the splicing disruption at RNA level for a not previously reported BRIP1 splicing mutation. Using an On-Demand panel, we identified 18 pathogenic mutation carriers, seven of which would have gone unnoticed with traditional analysis. Conclusions Our results reinforce the utility of NGS gene panels in the diagnostic routine to increase the performance of genetic testing, especially in individuals from families with overlapping cancer phenotypes.

This study examines the challenges and facilitators in implementing a lifestyle and integrative oncology intervention, which aims to provide education and personalized support related to oncology care, nutrition, rehabilitation, mindfulness, and psychological guidance. Breast cancer (BC) treatment is associated with disabilities among young women with BC, who experience side effects and psychosocial distress that impact their quality of life, physical functioning, and psychological well-being. There is an urgent need to implement multidisciplinary integrative oncology interventions to promote healthy lifestyles and improve the quality of life for women who are about to receive active treatment for BC. Integrative oncology is emerging as a discipline that combines complementary techniques with standard oncology, addressing the individual in all dimensions and encouraging a healthier lifestyle. However, it is essential to conduct studies on implementing and adopting new strategies, such as integrative oncology, in referral centers to evaluate opportunities for effective implementation. A qualitative analysis was conducted to identify the challenges and facilitators perceived by patients and providers in implementing a hybrid (on-site and online) integrative oncology multidisciplinary intervention. Women aged 18 to 39 with a recent BC stage I-III diagnosis and providers participated in structured interviews based on the Consolidated Framework for Implementation Research (CFIR) and Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) tools. The data from this framework analysis provided insights for developing an effective intervention and helped identify potential barriers and facilitators. Patients and providers reported that implementing the intervention was challenging, primarily due to time constraints, follow-up requirements, and the need to sustain patient motivation. The hybrid modality enhances motivation and adherence while addressing limitations such as the distance necessary to attend in-person sessions. However, some patients encountered difficulties related to technology and scheduling virtual sessions. Despite these challenges, the intervention proved feasible in assisting patients in maintaining a healthy lifestyle since their diagnosis and throughout their active BC oncology treatment. Integrative oncology interventions emerge as a strategy to maintain a healthy lifestyle, positively impacting quality of life during BC active treatment, and have gained widespread acceptance globally. However, their routine use and inclusion in BC standard treatment at oncology centers remain limited. This study underscores the importance of providing comprehensive care to YWBC from the outset of their treatment. Overcoming barriers such as patient ideologies, healthcare personnel, geographical distances, scheduling constraints, technological limitations, and institutional support is crucial for delivering this level of care. •An Integrative oncology approach is needed for young women with breast cancer interventions development.•Considering a hybrid modality improved motivation and adherence despite technology challenges, improving the feasibility for integrative oncology interventions.•Identified barriers as reference time, follow-up, scheduling, and patient ideologies still need to be addressed for an efficient implementation of the proposed intervention.•The findings in this study highlight the need for comprehensive care for young women with BC.

Background: To carry out a validation questionnaire that assesses beliefs about inhaled treatments in patients with chronic obstructive pulmonary disease (COPD), as knowing patients’ beliefs could help to improve medication adherence and health outcomes. Methods: We evaluated data from 260 COPD patients from electronic medical record databases from five primary healthcare centers, in a descriptive, cross-sectional study with a sample size calculated for a 10-item questionnaire, with an estimated Cronbach’s alpha of 0.70 and a 95% confidence level. Study participants were selected via systematic random sampling. Variables: Ten-item Inhaled Therapy Beliefs Questionnaire, CCTI-Questionnaire v.2.0, time for completion, age, sex, educational level, spirometry severity (GOLD criteria), exacerbations (previous year), characteristics of inhaled treatment, and smoking habit. A two-year follow-up in a subsample of 77 patients from one health center was utilized. The Morisky–Green test, pharmacy dispensing data, test–retest (kappa coefficient), and an exploratory analysis of the adherence–belief relationship (ji-squared) were measured. Results: The 10-item questionnaire showed good viability (3 min completion time) when performed face-to-face or telephonically; its psychometric properties were acceptable, with an internal consistency (Cronbach’s alpha) score of 0.613. Three factors explained 47.58% of the total variance (p < 0.0001): use (factor 1), effects (factor 2), and objectives (factor 3) of inhalers. The two-year follow-up ultimately considered 58 out of the 77 patients (10 deceased, 4 unlocated, 2 mistakes, 2 no inhaled treatment, and 1 withdrawal). Non-adherence was 48.3% in terms of the Morisky–Green test; 31% in terms of pharmacy dispensing data; and 40.4% considering both methods. There was low test–retest reliability, indicated by items 4, 8, and 9 of the CCTI-Questionnaire (Kappa = 0.4, 0.26, and 0.34; p-value < 0.0001, 0.008, and 0.001, respectively). There was mild correlation between beliefs and adherence. Conclusions: The ten-item CCTI-Questionnaire v.2.0 demonstrated acceptable psychometric properties regarding feasibility, reliability, and content validity.

PurposeTo assess the impact of laparoscopic extraperitoneal paraaortic staging in therapeutic planning and prognosis of patients with locally advanced cervical cancer (LACC) as compared with imaging staging.MethodsRetrospective multicenter study of stage IB2 and IIA2 to IVA (FIGO 2009) LACC patients who were candidates for primary chemoradiotherapy. The study (surgical) group included 634 patients undergoing laparoscopic/robotic extraperitoneal paraaortic staging treated with extended-field radiotherapy (EFRT) if lymph node involvement was confirmed. The control (imaging) group included 288 patients treated with EFRT when lymph node involvement was suspected on positron emission tomography-computed tomography scans and/or magnetic resonance imaging.ResultsIn the study group, a median of 13 (range 9–17) lymph nodes were removed, with a rate of positive paraaortic nodes of 18%, with metastatic size ≤ 5 mm in 20.4% of cases. Paraaortic EFRT was administered to 18% of patients in the study group and in 58% of controls. In 34% of patients from the surgical group, EFRT was modified according to surgical findings with respect to imaging staging. The median follow-up in the study and control groups was 3.7 and 4.8 years, respectively. In both groups, the overall survival and cancer-specific disease-free survival were similar. The time interval between diagnosis and starting EFRT was 18 days longer in the study group, without differences in overall survival as compared with controls (hazard ratio 1.00, 95% confidence interval 0.998–1.005; p = 0.307).ConclusionsLaparoscopic extraperitoneal paraaortic staging in LACC patients is safe and modified therapeutic planning, allowing better selection of candidates for EFRT.

In this study, we aim to gain insight in the germline mutation spectrum of ATM, BARD1, BRIP1, ERCC4, PALB2, RAD51C and RAD51D in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom a germline mutation in BRCA1 and BRCA2 was previously ruled out. The importance of disease-causing variants in these genes lies in the fact that they may have possible therapeutic implications according to clinical guidelines. All variants were assessed by combined annotation dependent depletion (CADD) for scoring their deleteriousness. In addition, we used the cancer genome interpreter to explore the implications of some variants in drug response. Finally, we compiled and evaluated the family history to assess whether carrying a pathogenic mutation was associated with age at diagnosis, tumour diversity of the pedigree and total number of cancer cases in the family. Eight unequivocal pathogenic mutations were found and another fourteen were prioritized as possible causal variants. Some of these molecular results could contribute to cancer diagnosis, treatment selection and prevention. We found a statistically significant association between tumour diversity in the family and carrying a variant with a high score predicting pathogenicity (p = 0.0003).

Assessing the nutritional and morphofunctional status of patients with obesity is essential for optimizing their management. Nutritional ultrasound (NU) is a non-invasive, portable technique that offers insights into muscle and adipose tissue status. Combining NU with bioelectrical impedance analysis (BIA) and handgrip strength (HGS) may improve the assessment of body composition and muscle functionality. This study aimed to evaluate the usefulness of NU as a primary tool for morphofunctional assessment in patients with obesity, while comparing and complementing it with BIA and HGS.INTRODUCTIONAssessing the nutritional and morphofunctional status of patients with obesity is essential for optimizing their management. Nutritional ultrasound (NU) is a non-invasive, portable technique that offers insights into muscle and adipose tissue status. Combining NU with bioelectrical impedance analysis (BIA) and handgrip strength (HGS) may improve the assessment of body composition and muscle functionality. This study aimed to evaluate the usefulness of NU as a primary tool for morphofunctional assessment in patients with obesity, while comparing and complementing it with BIA and HGS.In a cohort of 178 patients with obesity, we analyzed body composition using NU, BIA and HGS, which are widely accepted methods for assessing body composition and muscle strength, respectively. Significant correlations were found between NU-measured quadriceps rectus femoris cross-sectional area (CSA) and BIA-derived fat-free mass markers, such as body cell mass (r = 0.638, P < 0.001) and appendicular skeletal muscle mass (r = 0.591, P < 0.001). Additionally, leg subcutaneous adipose tissue (L-SAT) measured by NU was highly correlated with BIA-measured fat mass (r = 0.656, P < 0.001). Linear regression analyses further confirmed the importance of RF-CSA as a strong predictor of body cell mass (BCM), along with HGS and BMI, explaining 78.2% of the variability in BCM (R² = 0.782, AIC = 672).RESULTSIn a cohort of 178 patients with obesity, we analyzed body composition using NU, BIA and HGS, which are widely accepted methods for assessing body composition and muscle strength, respectively. Significant correlations were found between NU-measured quadriceps rectus femoris cross-sectional area (CSA) and BIA-derived fat-free mass markers, such as body cell mass (r = 0.638, P < 0.001) and appendicular skeletal muscle mass (r = 0.591, P < 0.001). Additionally, leg subcutaneous adipose tissue (L-SAT) measured by NU was highly correlated with BIA-measured fat mass (r = 0.656, P < 0.001). Linear regression analyses further confirmed the importance of RF-CSA as a strong predictor of body cell mass (BCM), along with HGS and BMI, explaining 78.2% of the variability in BCM (R² = 0.782, AIC = 672).These findings suggest that NU, combined with BIA and HGS, provides a comprehensive, practical tool for assessing body composition and muscle function in obesity management, with the potential for routine application in clinical settings.CONCLUSIONThese findings suggest that NU, combined with BIA and HGS, provides a comprehensive, practical tool for assessing body composition and muscle function in obesity management, with the potential for routine application in clinical settings.