Search Results (18)

Background/Objectives: After diagnosis, it is common for women with breast cancer to gain weight, which is associated with worse clinical outcomes. However, traditional measures such as body weight, BMI, and waist circumference do not detect key changes in body composition, such as fat redistribution or muscle loss. The objective of this exploratory study was to assess the evolution of body composition and muscle strength after one year of treatment, and their relationship with metabolic biomarkers. Methods: Prospective observational study in newly diagnosed breast cancer patients. Body composition was assessed using bioelectrical impedance analysis (BIA) and ultrasound (US); muscle strength was measured by handgrip dynamometry. Biomarkers analyzed included glucose, insulin, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), glycosylated hemoglobin (HbA1c), total cholesterol (and its fractions), triglycerides, C-reactive protein (CRP), 6-interleukin (IL-6), vitamin D, myostatin, and fibroblast growth factor 21 (FGF-21). Results: Sixty-one women (mean age 58 years) were included. After one year, fat mass and related parameters significantly increased, while skeletal muscle mass and muscle strength decreased. Sarcopenic obesity prevalence rose from 1.16% to 4.9%. No significant changes were found in biomarkers, but positive correlations were observed between fat parameters and insulin, HOMA-IR, and triglycerides, and negative correlations with HDL-cholesterol. Conclusions: BIA and US can detect unfavorable changes in body composition that are not reflected in conventional measurements. At one year post-diagnosis, women showed increased fat accumulation, muscle loss, and reduced strength, even without significant metabolic biomarker changes. Further research is warranted to elucidate the long-term clinical implications of these findings and the external validity in larger cohorts. Full article

Background: Cancer is one of the leading causes of morbidity and mortality worldwide and in Spain. Individuals with cancer are at a higher risk of suicide compared to the general population due to both general and disease-specific risk factors. Objective: To update knowledge on nursing care measures to address the risk of suicide in cancer patients. Methods: A narrative review was conducted by searching PubMed, WOS, Scopus, and CINAHL during February and March 2025. The inclusion criteria comprised original qualitative, quantitative, and/or mixed-methods studies related to the topic of the review. Results: Of the 289 identified studies, 23 were selected. Twelve studies of cancer patients, ten studies of healthcare professionals, and one study of caregivers and survivors were included. Regarding suicide risk factors, eight studies addressed demographic aspects, fifteen socio-economic factors, twenty-one psycho-emotional factors, and seventeen physical factors. Key risk factors included male sex, advanced age, social isolation, lack of social support, hopelessness, and physical deterioration. Seventeen studies highlighted the need for continuous and comprehensive nursing care using validated tools for systematic assessment of suicide risk. Eight emphasised the importance of ongoing training in suicide prevention, which is essential for developing communication skills and improving therapeutic relationships. Five studies underscored the relevance of a holistic approach that addresses the physical, emotional, social, and spiritual dimensions of patient care. Six extended this approach to include family members and caregivers. Conclusions: Suicide risk in cancer patients is associated with multiple risk factors. Emotional support and a comprehensive, continuous nursing approach—based on systematic assessments, specialised training, and a holistic focus—are key to effective suicide prevention. Full article

Background: Physical exercise during pregnancy is strongly recommended due to its well-established benefits for both mother and child. However, its impact on the pelvic floor remains insufficiently studied. This study aimed to evaluate pelvic floor adaptations to a structured prenatal exercise program using transperineal ultrasound, and to assess associations with the duration of the second stage of labor and mode of delivery. Methods: This is a planned secondary analysis of a randomized controlled clinical trial (RCT) (NCT04563065) including women with singleton pregnancies at 12–14 weeks of gestation. Participants were randomized to either an exercise group, which followed a supervised physical exercise program three times per week, or a control group, which received standard antenatal care. Transperineal ultrasound was used at the second trimester of pregnancy and six months postpartum to measure urogenital hiatus dimensions at rest, during maximal pelvic floor contraction, and during the Valsalva maneuver, to calculate hiatal contractility and distensibility and to evaluate levator ani muscle insertion. Regression analyses were performed to assess the relationship between urogenital hiatus measurements and both duration of the second stage of labor and mode of delivery. Results: A total of 78 participants were included in the final analysis: 41 in the control group and 37 in the exercise group. The anteroposterior diameter of the urogenital hiatus at rest was significantly smaller in the exercise group compared to controls (4.60 mm [SD 0.62] vs. 4.91 mm [SD 0.76]; p = 0.049). No other statistically significant differences were observed in static measurements. However, contractility was significantly reduced in the exercise group for both the latero-lateral diameter (8.54% vs. 4.04%; p = 0.012) and hiatus area (20.15% vs. 12.55%; p = 0.020). Distensibility was similar between groups. There were no significant differences in the duration of the second stage of labor or mode of delivery. Six months after delivery, there was an absolute risk reduction of 32.5% of levator ani muscle avulsion in the exercise group compared to the control group (53.3% and 20.8%, respectively; p = 0.009). Conclusions: A supervised exercise program during pregnancy appears to modify pelvic floor morphology and function, reducing the incidence of levator ani muscle avulsion without affecting the type or duration of delivery. These findings support the safety and potential protective role of prenatal exercise in maintaining pelvic floor integrity. Full article

Background/Objectives: This PETHEMA PCR-LMA study aimed to evaluate whether mutations detected by NGS (VAF cut-off of ≥5%) correlate with NPM1, FLT3-ITD, FLT3-TKD, IDH1, and IDH2 mutations detected using conventional PCR (analytical sensitivity 3%) in a nationwide network of seven reference laboratories. Methods: Between 2019 and 2021, 1685 adult AML patients with at least one centralized sample (NGS or PCR) at primary diagnosis or relapse/refractory episode were included. Results: During this period, 1288 paired NGS/PCR samples (1094 at diagnosis, 103 at relapse and 88 at refractoriness) were analyzed. Considering PCR the gold-standard, for NPM1 NGS sensitivity was 98.5% and specificity 98.9%, for FLT3-ITD 73.8% and 99.6%, for FLT3-TKD 84.5% and 99.3%, for IDH1 98.7% and 98.7%, and for IDH2 99.1% and 97.7%, respectively. Overall concordance rate of positive results between NGS (and PCR was 95% (262/276) for NPM1, 72% (149/206) for FLT3-ITD, 74% (49/66) for FLT3-TKD, 87% (77/89) for IDH1 and 84% (107/127) for IDH2. Overall, median days from sample reception until report were 7 for PCR and 28 for NGS. Conclusions: This study shows high concordance between NPM1 and IDH results using PCR and NGS. However, sensible important discrepancies are observed for FLT3 mutations. In our context, rapid screening for these druggable mutations should be performed by conventional PCR. Full article

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase α) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D. Full article

Rotavirus remains a significant public health threat, especially in low-income countries, where it is the leading cause of severe acute childhood gastroenteritis, contributing to over 128,500 deaths annually. Although the introduction of the Rotarix and RotaTeq vaccines in 2006 marked a milestone in reducing mortality rates, approximately 83,158 preventable deaths persisted, showing ongoing challenges in vaccine accessibility and effectiveness. To address these issues, a novel subcutaneous vaccine formulation targeting multiple rotavirus genotypes has been developed. This vaccine consists of nine VP8* proteins from nine distinct rotavirus genotypes and sub-genotypes (P[4], P[6], P[8]_LI, P[8]_LIII, P[8]_LIV, P[9], P[11], P[14], and P[25]) expressed in E. coli. Two groups of mice were immunized either with a single immunogen, the VP8* from the rotavirus Wa strain (P[8]_LI), or with the nonavalent formulation. Preliminary results from mouse immunization studies showed promising outcomes, eliciting antibody responses against six of the nine immunogens. Notably, significantly higher antibody titers against VP8* P[8]_LI were observed in the group immunized with the nonavalent vaccine compared to mice specifically immunized against this genotype alone. Overall, the development of parenteral vaccines targeting multiple rotavirus genotypes represents a promising strategy in mitigating the global burden of rotavirus-related morbidity and mortality, offering new avenues for disease prevention and control. Full article

Pregnant women are especially vulnerable to respiratory diseases. We aimed to study seroconversion rates during pregnancy in a cohort of consecutive pregnancies tested in the first and third trimesters and to compare the maternal and obstetric complications in the women who seroconverted in the first trimester and those who did so in the third. This was an observational cohort study carried out at the Hospital Universitario de Torrejón, in Madrid, Spain, during the first peak of the COVID-19 pandemic. All consecutive singleton pregnancies with a viable fetus attending their 11–13-week scan between 1 January and 15 May 2020 were included and seropositive women for SARS-CoV2 were monthly follow up until delivery. Antibodies against SARS-CoV-2 (IgA and IgG) were analyzed on stored serum samples obtained from first- and third-trimester routine antenatal bloods in 470 pregnant women. Antibodies against SARS-CoV-2 were detected in 31 (6.6%) women in the first trimester and in 66 (14.0%) in the third trimester, including 48 (10.2%) that were negative in the first trimester (seroconversion during pregnancy). Although the rate of infection was significantly higher in the third versus the first trimester (p = 0.003), no significant differences in maternal or obstetric complications were observed in women testing positive in the first versus the third trimester. Full article

Background and Objectives: Over the last few years, great interest has arisen in the role of the cerebroplacental ratio (CPR) to identify low-risk pregnancies at higher risk of adverse pregnancy outcomes. This study aimed to assess the predictive capacity of the CPR for adverse perinatal outcomes in all uncomplicated singleton pregnancies attending an appointment at 40–42 weeks. Materials and Methods: This is a retrospective cohort study including all consecutive singleton pregnancies undergoing a routine prenatal care appointment after 40 weeks in three maternity units in Spain and the United Kingdom from January 2017 to December 2019. The primary outcome was adverse perinatal outcomes defined as stillbirth or neonatal death, cesarean section or instrumental delivery due to fetal distress during labor, umbilical arterial cord blood pH < 7.0, umbilical venous cord blood pH < 7.1, Apgar score at 5 min < 7, and admission to the neonatal unit. Logistic mixed models and ROC curve analyses were used to analyze the data. Results: A total of 3143 pregnancies were analyzed, including 537 (17.1%) with an adverse perinatal outcome. Maternal age (odds ratio (OR) 1.03, 95% confidence interval (CI) 1.01 to 1.04), body mass index (OR 1.04, 95% CI 1.03 to 1.06), racial origin (OR 2.80, 95% CI 1.90 to 4.12), parity (OR 0.36, 95% CI 0.29 to 0.45), and labor induction (OR 1.79, 95% CI 1.36 to 2.35) were significant predictors of adverse perinatal outcomes with an area under the ROC curve of 0.743 (95% CI 0.720 to 0.766). The addition of the CPR to the previous model did not improve performance. Additionally, the CPR alone achieved a detection rate of only 11.9% (95% CI 9.3 to 15) when using the 10th centile as the screen-positive cutoff. Conclusions: Our data on late-term unselected pregnancies suggest that the CPR is a poor predictor of adverse perinatal outcomes. Full article

Justification: Providing care to patients with several conditions and simultaneously taking several medications at home is inexorably growing in developed countries. This trend increases the chances of home caregivers experiencing diverse errors related with medication or care. Objective: To determine the effectiveness of four different educational solutions compared to the natural intervention (absence of intervention) to provide a safer care at home by caregivers. Method: Prospective, parallel, and mixed research study with two phases. Candidates: Home-based caregivers caring a person with multiple comorbid conditions or polymedication who falls into one of the three profiles of patients defined for the study (oncology, cardiovascular, or pluripathological patients). First phase: Experts first answered an online survey, and then joined together to discuss the design and plan the content of educational solutions directed to caregivers including the identification of medication and home care errors, their causes, consequences, and risk factors. Second phase: The true experiment was performed using an inter- and intrasubject single-factor experimental design (five groups: four experimental groups against the natural intervention (control), with pre- and post-intervention and follow-up measures) with a simple random assignment, to determine the most effective educational solution (n = 350 participants). The participants will be trained on the educational solutions through 360 V, VR, web-based information, or psychoeducation. A group of professionals called the “Gold Standard” will be used to set a performance threshold for the caring or medication activities. The study will be carried out in primary care centers, hospitals, and caregivers’ associations in the Valencian Community, Andalusia, Madrid, and Murcia. Expected results: We expect to identify critical elements of risk management at home for caregivers and to find the most effective and optimal educational solution to reduce errors at home, increasing caregivers’ motivation and self-efficacy whilst the impact of gender bias in this activity is reduced. Trial Registration: Clinical Trial NCT05885334. Full article

Spain is a country with an important flow of cruises in Europe. Since the restarting of cruise activity, 1,106 events with 12,134 confirmed cases of COVID-19 were reported from 21 ports. 72.3% of cases and 73.7% of events were registered in the Balearic Islands, Barcelona, Tenerife and Las Palmas, ports with the highest number of layovers and passengers. The events reported increased from October 2021, with a peak in January and April 2022. The cases raised later, in December 2021 with two peaks in January and April and a substantial increase in June 2022. The peak of January coincides with the peak of COVID-19 cases registered in Spain and Europe. The increases in April and June 2022 coincides with the Easter period and the beginning of summer holidays. Full article

In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the SORL1 gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and SORL1 mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in SORL1, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the SORL1 gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of SORL1-associated AD and suggest that SORL1 might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene. Full article

Advanced gastric cancer is one of the most thrombogenic neoplasms. However, genetic mechanisms underlying this complication remain obscure, and the molecular and histological heterogeneity of this neoplasm hinder the identification of thrombotic biomarkers. Therefore, our main objective was to identify genes related to thrombosis regardless of Lauren subtypes. Furthermore, in a secondary exploratory study, we seek to discover thrombosis-associated genes that were specific to each TCGA molecular subtype. We designed a nested case-control study using the cohort of the AGAMENON national advanced gastric cancer registry. Ninety-seven patients were selected—48 with and 49 without venous thromboembolism (using propensity score matching to adjust for confounding factors)—and a differential gene expression array stratified by Lauren histopathological subtypes was carried out in primary tumor samples. For the secondary objective, the aforementioned differential expression analysis was conducted for each TCGA group. Fifteen genes were determined to be associated with thrombosis with the same expression trend in both the intestinal and diffuse subtypes. In thrombotic subjects, CRELD1, KCNH8, CRYGN, MAGEB16, SAA1, ARL11, CCDC169, TRMT61A, RIPPLY3 and PLA2G6 were underexpressed (adjusted-p < 0.05), while PRKD3, MIR5683, SDCBP, EPS8 and CDC45 were overexpressed (adjusted-p < 0.05), and correlated, by logistic regression, with lower or higher thrombotic risk, respectively, in the overall cohort. In each TCGA molecular subtype, we identified a series of genes differentially expressed in thrombosis that appear to be subtype-specific. We have identified several genes associated with venous thromboembolism in advanced gastric cancer that are common to Lauren intestinal and diffuse subtypes. Should these genetic factors be validated in the future, they could be complemented with existing clinical models to bolster the ability to predict thrombotic risk in individuals with advanced gastric adenocarcinoma. Full article

Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome. Full article

The present paper analyzed the influence of ethically minded consumer behavior on retailer’s commitment to sustainable development as perceived by the consumer, and their contribution to the chain of relationships “store equity–loyalty–word of mouth communication”, in the context of retailing. Responses from 317 hypermarket customers in Ecuador were analyzed. The model was estimated using the partial least squares technique. The results show the sustainable development actions implemented by retailers, together with perceived value, contribute significantly to store equity creation, which explains customer loyalty and, ultimately, positive word-of-mouth communication. However, the most concerned consumers of ethical aspects value the retailer’s efforts towards sustainability to a lesser extent. The findings of this research allow developing a series of implications for the managers of these establishments. Full article

The versatility of piezoelectric sensors in measurement techniques and their performance in applications has given rise to an increased interest in their use for structural and manufacturing component monitoring. They enable wireless and sensor network solutions to be developed in order to directly integrate the sensors into machines, fixtures and tools. Piezoelectric sensors increasingly compete with strain-gauges due to their wide operational temperature range, load and strain sensing accuracy, low power consumption and low cost. This research sets out the use of piezoelectric sensors for real-time monitoring of mechanical strength in metallic structures in the ongoing operational control of machinery components. The behaviour of aluminium and steel structures under flexural strength was studied using piezoelectric sensors. Variations in structural behaviour and geometry were measured, and the load and μstrains during operational conditions were quantified in the time domain at a specific frequency. The lead zirconium titanate (PZT) sensors were able to distinguish between material types and thicknesses. Moreover, this work covers frequency selection and optimisation from 20 Hz to 300 kHz. Significant differences in terms of optimal operating frequencies and sensitivity were found in both structures. The influence of the PZT voltage applied was assessed to reduce power consumption without signal loss, and calibration to μstrains and loads was performed. Full article