Is biochemical pregnancy loss associated with embryo or endometrium? A retrospective cohort study in frozen single embryo transfer of own and donated oocytes.

STUDY QUESTION: Does the use of preimplantation genetic testing for aneuploidies (PGT-A), personalized embryo transfer with endometrial receptivity assay (pET-ERA), or the use of donated oocytes modify the incidence of biochemical pregnancy loss (BPL) in frozen single embryo transfer (FSET)? SUMMARY ANSWER: Following FSET, BPL incidence does not differ between own and donated oocytes, and the use of PGT-A with euploid embryo transfer or pET-ERA results in a similar incidence of BPL compared to cycles without embryo or endometrial analysis. WHAT IS KNOWN ALREADY: BPL occurs frequently after IVF, and many factors have been associated with its incidence. The etiology of BPL is not well known, but the most probable cause seems to be either a low-quality embryo or impaired endometrial maintenance. The impact of techniques diagnosing embryonic ploidy or endometrial receptivity on BPL incidence and the BPL incidence between own and donated oocytes have not been analyzed. STUDY DESIGN, SIZE, DURATION: This is a retrospective cohort study analyzing the incidence of BPL over 3741 cycles of FSET derived from own (2399 cycles) and donated (1342 cycles) oocytes between January 2013 and January 2022 in 1736 of which PGT-A, pET-ERA, or both were applied. PARTICIPANTS/MATERIALS, SETTING, METHODS: We defined BPL as a pregnancy diagnosed only by serum ß-hCG > 10 UI/l followed by a decrease that does not result in a clinical pregnancy. Clinical pregnancy was defined as the presence of gestational sac on transvaginal ultrasound. We compared BPL rates among patients undergoing 2399 FSETs from own oocytes, which comprised 1310 cycles of embryos analyzed by PGT-A, 950 cycles of untested embryos, 30 cycles of untested embryos with pET-ERA, and a subgroup of 109 cycles analyzed by both PGT-A and pET-ERA. We also included a total of 1342 FSET cycles from donated oocytes comprising 132, 1055, 140, and 15 cycles in the same groups, respectively. MAIN RESULTS AND THE ROLE OF CHANCE: In FSET from own oocytes, the overall BPL rate per embryo transfer was 8.2% (95% CI [7.09-9.33]). In untested embryo transfers, the BPL rate was 7.5% [5.91-9.37]. In the PGT-A group, the BPL rate was 8.8% [7.32-10.47]. In the pET-ERA group, the rate was 6.7% [0.82-22.07]. In the PGT-A+ERA group, the rate was 6.5% [2.65-12.90]. No significant differences were found (P = 0.626). A multivariate analysis considering clinically meaningful variables that were significantly different among groups, taking the untested embryos/endometrium group as a reference, showed comparable incidences among groups. For PGT-A, the adjusted odds ratio (AdjOR) was 1.154 [0.768-1.735] (P = 0.49) and for PGT-A+ERA 0.885 [0.330-2.375] (P = 0.808). Because of a low number of registered cases in the pET-ERA group, and to prevent statistical errors and convergence issues, this group was excluded from further analysis. In FSET of donated oocytes, the overall BPL rate per embryo transfer was 4.9% [3.76-6.14]. In the PGT-A group, the BPL rate was 6.8% [3.16-12.55]. In the pET-ERA group, the rate was 5.0% [2.03-10.03]. In untested embryo transfers, the rate was 4.7% [3.46-6.10]. No cases occurred in the PGT-A+ERA group, and no significant differences were found (P = 0.578). The multivariate analysis showed comparable incidences among groups. For PGT-A the AdjOR was 1.669 [0.702-3.972] (P = 0.247) and for pET-ERA 1.189 [0.433-3.265] (P = 0.737). The PGT-A+ERA group was eliminated from the model to prevent statistical errors and convergence issues because no BPL cases were registered in this group. In the multivariate analysis, when the sources of oocytes were compared, own versus donated, no significant differences were found in the incidence of BPL. LIMITATIONS, REASONS FOR CAUTION: This was a retrospective cohort study with potential biases. In addition, we were unable to control differences among groups due to modifications in medical or laboratory protocols during this long time period, which may modify the relationships being addressed. Factors previously associated with BPL, such as immunological conditions other than thyroid autoimmunity, were not considered in this study. Limited sample sizes of some groups may limit the statistical power for finding differences that can be present in the general population. WIDER IMPLICATIONS OF THE FINDINGS: BPL may be related to a mechanism not associated with the chromosomal constitution of the embryo or the transcriptome of the endometrium. More studies are needed to explore the factors associated with this reproductive issue. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was available for this study. None of the authors have a conflict of interest to declare with regard to this study. TRIAL REGISTRATION NUMBER: This trial was registered at clinicaltrials.gov (NCT04549909).

Lung ultrasound in neonates under cardiac surgery: feasible and predictive.

PURPOSE: To determine whether pre- and postoperative follow-up based on lung ultrasound is associated with the respiratory and clinical evolution of patients undergoing cardiac surgery in the neonatal period. METHODS: Prospective observational unicentric study from December 2020 to October 2023 in a neonatal intensive care unit, a referral center for congenital heart diseases (CHD). Neonates with CHD exposed to heart surgery or percutaneous catheterization in their first 28 days of life were included. LU follow-up was performed before surgery (LUSpre) and on days 1 (LUS_1), 3 (LUS_3), and 7 (LUS_7) afterwards by mean of a dedicated score (LUS) ranging from 0 to 3 points in 8 areas (total score 0-24). RESULTS: Fifty-five neonates were included. Median gestational age was 39.1 weeks (37.8-40.1), birth weight 3088 g (IQR 2910-3400). Forty-nine received surgery and 6 only percutaneous catheterization. Median LUSpre score was associated with total respiratory support in the first 30 postoperative days (p = 0.034). Median postoperative LUS was significantly higher than LUSpre in the surgery cohort at all time points (p < 0.05). LUS_1 was associated with respiratory and several clinical outcomes: for each point increase in the ultrasound score, the days on invasive mechanical ventilation, the need for any respiratory support within the first 30 postoperative days, and the length of NICU stay increased significantly (p < 0.05). The presence of consolidations in any area in the postoperative lung ultrasounds was associated with worse respiratory outcomes: higher invasive mechanical ventilation duration (6.84 days), longer total respiratory support (6.07 days), and NICU admission (21.61 days). The presence of consolidations in LUS_7 was significantly associated with the occurrence of ipsilateral diaphragmatic paralysis (odds ratio of 10.25 (95% CI 2.05-51.26, p = 0.006). CONCLUSION: Performance of lung ultrasound follow-up in CHD in the NICU is feasible and predictive of the respiratory evolution of the patient. LUS_1 presented the highest predictive values. The presence of consolidations is associated with a worse respiratory evolution and if they persist for a week after the procedure, it may raise suspicion of ipsilateral diaphragmatic paralysis.

Adverse drug reactions in paediatric surgery: prospective study on frequency and risk related factors.

BACKGROUND: Paediatric patients are especially prone to experiencing adverse drug reactions (ADRs), and the surgical environment gathers many conditions for such reactions to occur. Additionally, little information exists in the literature on ADRs in the paediatric surgical population. We aimed to quantify the ADR frequency in this population, and to investigate the characteristics and risk factors associated with ADR development. METHODS: A prospective observational study was conducted in a cohort of 311 paediatric patients, aged 1-16 years, admitted for surgery at a tertiary referral hospital in Spain (2019-2021). Incidence rates were used to assess ADR frequency. Odds ratios (ORs) were calculated to evaluate the influence of potential risk factors on ADR development. RESULTS: Distinct ADRs (103) were detected in 80 patients (25.7%). The most frequent being hypotension (N = 32; 35%), nausea (N = 16; 15.5%), and emergence delirium (N = 16; 15.5%). Most ADRs occurred because of drug-drug interactions. The combination of sevoflurane and fentanyl was responsible for most of these events (N = 32; 31.1%). The variable most robustly associated to ADR development, was the number of off-label drugs prescribed per patient (OR = 2.99; 95% CI 1.73 to 5.16), followed by the number of drugs prescribed per patient (OR = 1.26, 95% CI 1.13 to 1.41), and older age (OR = 1.26, 95% CI 1.07 to 1.49). The severity of ADRs was assessed according to the criteria of Venulet and the Spanish Pharmacovigilance System. According to both methods, only four ADRs (3.9%) were considered serious. CONCLUSIONS: ADRs have a high incidence rate in the paediatric surgical population. The off-label use of drugs is a key risk factor for ADRs development.

The impact of gambling advertising and marketing on online gambling behavior: an analysis based on Spanish data.

OBJECTIVES: Online platforms have transformed gambling into a daily activity for many, raising concerns about its potential harm. Notably, marketing strategies play a crucial role in influencing gambling behaviors and normalizing gambling. This study aims to explore the relationship between monthly marketing expenditure by the gambling industry, the online amount of money bet, and the number of online accounts (active and new) in Spain. A secondary goal is to assess the impact of marketing restrictions under the Spanish Royal Decree 958/2020 on the relationship between marketing and online gambling behavior. STUDY DESIGN: Longitudinal study. METHODS: Data covering January 2013 to December 2023. Dependent variables included: new accounts, active accounts, gambler deposits, and the total money bet. Independent variables included: expenditure on advertising, bonuses, affiliate marketing, and sponsorship. A Seasonal Autoregressive Integrated Moving Average (SARIMA) model was employed to assess marketing's impact on online gambling behavior. RESULTS: Findings show that investment in advertising (P ≤ 0.025), promotions (P < 0.001), and sponsorships (P ≤ 0.004) significantly increase the number of new and active accounts, deposits, and total money bet. For instance, it has been estimated that, for every €1 invested in bonuses and sponsorship, gamblers deposit €1.6 and €4 into their accounts, respectively. Moreover, the Spanish law regulating gambling advertising has seemingly weakened the link between marketing expenditure and gambling behavior, with the notable exception of bonuses, where the impact has intensified. CONCLUSIONS: These results underline the importance of ongoing monitoring and regulation of gambling behavior in Spain, emphasizing the need for strict adherence to regulations.

Nurses' preferences regarding MenACWY conjugate vaccines attributes: a discrete choice experiment in Spain.

OBJECTIVES: Immunisation against preventable diseases as meningitis is crucial from a public health perspective to face challenges posed by these infections. Nurses hold a great responsibility for these programs, which highlights the importance of understanding their preferences and needs to improve the success of campaigns. This study aimed to investigate nurses' preferences regarding Meningococcus A, C, W, and Y (MenACWY) conjugate vaccines commercialised in Spain. STUDY DESIGN: A national-level discrete choice experiment (DCE) was conducted. METHODS: A literature review and a focus group informed the DCE design. Six attributes were included: pharmaceutical form, coadministration evidence, shelf-life, package contents, single-doses per package, and package volume. Conditional logit models quantified preferences and relative importance (RI). RESULTS: Thirty experienced primary care nurses participated in this study. Evidence of coadministration with other vaccines was the most important attribute (RI = 43.78%), followed by package size (RI = 22.17%), pharmaceutical form (RI = 19.07%), and package content (RI = 11.80%). There was a preference for evidence of coadministration with routine vaccines (odds ratio [OR] = 2.579, 95% confidence interval [95%CI] = 2.210-3.002), smaller volumes (OR = 1.494, 95%CI = 1.264-1.767), liquid formulations (OR = 1.283, 95%CI = 1.108-1.486) and package contents including only vial/s (OR = 1.283, 95%CI = 1.108-1.486). No statistical evidence was found for the remaining attributes. CONCLUSIONS: Evidence of coadministration with routine vaccines, easy-to-store packages, and fully liquid formulations were drivers of nurses' preferences regarding MenACWY conjugate vaccines. These findings provide valuable insights for decision-makers to optimize current campaigns.

Cost-benefit analysis and short-term outcomes after implementing an ERAS protocol for colorectal surgery: a propensity score-matched analysis.

BACKGROUND: Enhanced Recovery After Surgery (ERAS) has become increasingly popular in the post-operative management of abdominal surgery. Published data suggest that patients on ERAS protocols have fewer minor and major complications, and highlight a reduction in medical morbidity (such as urinary and respiratory infections). Limited data is available on surgical complications. The aim of the study was to evaluate the impact of the ERAS protocol on post-operative complications and length of hospital stay. Furthermore, we aimed to determine the impact of this protocol on cost-effectiveness. MATERIAL AND METHODS: From January 2016 to December 2022, 532 colectomies for colorectal cancer (CRC) were performed. A prospective observational study was conducted in a tertiary hospital on the cohort of patients, aged 18 years and older, operated on for non-urgent colorectal cancer. The impact on post-operative complications, hospital stay and economic impact was analysed in two groups: patients managed under ERAS and non-ERAS protocol. A propensity score-matching analysis was performed between the two groups. RESULTS: After propensity score matching 1:1, each cohort included 71 patients, and clinicopathological characteristics were well balanced in terms of tumour type, surgical technique and surgical approach. ERAS patients experienced fewer infectious complications and a shorter postoperative stay (p < 0.001). In particular, they had an 8.5% reduction in anastomotic dehiscence (p = 0.012) and surgical wound infections (p = 0.029). After analysis of medical complications, no statistically significant differences were identified in urinary tract infections, pneumonia, gastrointestinal bleeding or sepsis. ERAS protocol was more efficient and cost-effective than the control group, with an overall savings of 37,673.44€. CONCLUSIONS: The implementation of an enhanced recovery protocol for elective colorectal surgery in a tertiary hospital was cost-effective and associated with a reduction in post-operative complications, especially infectious complications.

A Cluster Analysis of Neuropsychological Impairment in Borderline Personality Disorder: Identifying a Neurocognitive Subtype Linked to Attention Deficit Hyperactivity Disorder.

INTRODUCTION: Cognitive impairment associated with borderline personality disorder (BPD) has been consistently demonstrated. However, a specific neuropsychological profile has not yet been established for this disorder, maybe due to the heterogeneity of BPD. The aim of this work is the search for distinct neuropsychological subtypes among patients with BPD and for the association of neuropsychological subgroups with specific clinical characteristics. METHODOLOGY: One hundred fifteen patients with BPD diagnosis received an extensive neuropsychological evaluation assessing attentional, memory and executive functions indexes. For subtyping strategies, a cluster analysis of neuropsychological BPD distribution was performed. Central clinical dimensions of BPD were measured and analysed in relation with the obtained neuropsychological clusters. RESULTS: Two clusters were found: Cluster 1 showed a significantly lower score on the working memory index, and Cluster 2 had significantly worse overall executive performance, response inhibition and planning abilities. Patients in the neurocognitive Cluster 2 showed significantly higher clinical deficits of attention as measured with subscales of the CAARS attention deficit hyperactivity disorder (ADHD) index (F = 2.549, p < 0.005, d = 11.49). CONCLUSIONS: Two neuropsychological clusters of patients were found in the BPD sample: Cluster 1 patients showed greater impairment in working memory, while Cluster 2 patients had greater deficits of executive functioning, particularly for response inhibition and planning. In addition, BPD patients with greater executive deficits presented greater levels of ADHD clinical features. These findings might also facilitate earlier diagnosis of severe BPD patient profiles and to establish more personalized treatment based on neurocognitive stimulation.

Relationship between periodontal disease and preterm birth. A systematic review and meta-analysis.

BACKGROUND: Periodontal disease (PD) is a chronic inflammatory disease of multifactorial origin that affects the supporting tissues of the tooth. According to WHO in 2022, it affects around 19% of the adult population worldwide. Its risk factors include the presence of periodontopathogenic bacteria in biofilm and the susceptibility of the host's immune system, among others. Preterm birth is defined as birth occurring before 37 weeks of gestational age. It also has a multifactorial origin and it's associated with risk factors such as intrauterine and extrauterine infections. There is a possibility that periodontal disease in pregnant women increases the risk of preterm birth through hematogenous pathways or the presence and intervention of inflammatory mediators. MATERIAL AND METHODS: Through a systematic review of existing scientific articles from 2014 to 2024, five randomized clinical trials were selected, including a total of 1984 pregnant patients diagnosed with periodontal disease. Half of these patients received non-surgical treatment, while the other half did not, aiming to evaluate a possible association between periodontal disease and/or its treatment and the occurrence of preterm birth. The risk of bias was assessed using the Cochrane "RoB 2" tool, and finally, a meta-analysis was conducted to compare the results obtained in the selected studies. RESULTS: Four articles showed a trend favoring non-surgical periodontal treatment as a preventive measure for preterm birth. These articles accounted for 92.2% of the total weight, while the remaining 7.85% corresponded to the single article that did not favor the treatment. However, none of the articles showed statistically significant results. CONCLUSIONS: There is no demonstrated association between periodontal disease in pregnant women and the incidence of preterm birth. On the other hand, there is a slightly favorable trend towards non-surgical periodontal treatment during pregnancy as a measure to reduce the incidence of preterm birth, but it's not statistically significant. To obtain a definitive answer, more randomized clinical trials following similar study and design parameters are needed.

Psoriatic Patient-Reported Outcomes, Adherence, and Satisfaction. / Resultados comunicados por el paciente, adherencia y satisfacción en pacientes con psoriasis.

BACKGROUND: Patient-reported outcomes (PROs) are outcomes evaluated by patients based on their perception of their disease and treatment. OBJECTIVES: Determine antipsoriatic treatment-related adherence, quality of life (QoL) and satisfaction. MATERIALS AND METHODS: We conducted an observational cross-sectional, prospective, and single-center study in which PROs surveys were conducted on adherence (Morisky-Green [MG] test), treatment satisfaction (Spanish Questionnaire of Treatment Satisfaction in Psoriasis [CESTEP]) and QoL (Skindex-29 and DLQI). Additional variables include: PASI, BSA. STATISTICAL ANALYSIS: Jamovi®2.3.26. RESULTS: A total of 100 surveys were conducted. Based on the MG questionnaire, we found that 75% (75/100) of patients were adherent vs 94% (94/100) from the dispensation records. Regarding CESTEP, a mean score of 7.4±7.7 (close to maximum satisfaction 0) was obtained, while DLQI yielded a score of 2.6±4.6 (indicating a small effect on QoL), and SKINDEX-29 a score of 14.6±15.4 (68% indicating mild (< 5) or very mild (6-17) impact according to Nijsten et al.). Based on CESTEP a p.Rho Spearman value of 0.338 (p=0.004) was obtained in relation to PASI when the study was conducted with a BSA of 0.255 (p=0.050), DLQI results of 0.508 (p <0.001) and Skindex-29 results of 0.397(p <0.001). At the time of the study, the correlation matrix between DLQI result and PASI was 0.365 (p=0.002) with a BSA of 0.347 (p=0.007). Skindex-29 results with PASI were 0.380 (p=0.001) and with BSA, 0.295 (p=0.022). CONCLUSIONS: Patients on therapy exhibit a good QoL, high adherence and satisfaction with their treatment. A significant correlation was seen among satisfaction, QoL, and PASI-BSA at the time of the study.

Association of adiposity and its changes over time with COVID-19 risk in older adults with overweight/obesity and metabolic syndrome: a longitudinal evaluation in the PREDIMED-Plus cohort.

BACKGROUND: Cross-sectionally, older age and obesity are associated with increased coronavirus disease-2019 (COVID-19) risk. We assessed the longitudinal associations of baseline and changes in adiposity parameters with COVID-19 incidence in older adults at high cardiovascular risk. METHODS: This analysis included 6874 men and women (aged 55-75 years) with overweight/obesity and metabolic syndrome in the PREDIMED-Plus lifestyle intervention trial for cardiovascular risk reduction. Body weight, body-mass-index (BMI), waist circumference, waist-to-height ratio (WHtR), and a body shape index (ABSI) were measured at baseline and annual follow-up visits. COVID-19 was ascertained by an independent Event Committee until 31 December 2021. Cox regression models were fitted to evaluate the risk of COVID-19 incidence based on baseline adiposity parameters measured 5-6 years before the pandemic and their changes at the visit prior to censoring. RESULTS: At the time of censoring, 653 incident COVID-19 cases occurred. Higher baseline body weight, BMI, waist circumference, and WHtR were associated with increased COVID-19 risk. During the follow-up, every unit increase in body weight (HRadj (95%CI): 1.01 (1.00, 1.03)) and BMI (HRadj: 1.04 (1.003, 1.08)) was associated with increased COVID-19 risk. CONCLUSIONS: In older adults with overweight/obesity, clinically significant weight loss may protect against COVID-19. TRIAL REGISTRATION: This study is registered at the International Standard Randomized Controlled Trial (ISRCT; http://www.isrctn.com/ISRCTN89898870 ).

Previous fracture and subsequent fracture risk: a meta-analysis to update FRAX.

A large international meta-analysis using primary data from 64 cohorts has quantified the increased risk of fracture associated with a previous history of fracture for future use in FRAX. INTRODUCTION: The aim of this study was to quantify the fracture risk associated with a prior fracture on an international basis and to explore the relationship of this risk with age, sex, time since baseline and bone mineral density (BMD). METHODS: We studied 665,971 men and 1,438,535 women from 64 cohorts in 32 countries followed for a total of 19.5 million person-years. The effect of a prior history of fracture on the risk of any clinical fracture, any osteoporotic fracture, major osteoporotic fracture, and hip fracture alone was examined using an extended Poisson model in each cohort. Covariates examined were age, sex, BMD, and duration of follow-up. The results of the different studies were merged by using the weighted ß-coefficients. RESULTS: A previous fracture history, compared with individuals without a prior fracture, was associated with a significantly increased risk of any clinical fracture (hazard ratio, HR = 1.88; 95% CI = 1.72-2.07). The risk ratio was similar for the outcome of osteoporotic fracture (HR = 1.87; 95% CI = 1.69-2.07), major osteoporotic fracture (HR = 1.83; 95% CI = 1.63-2.06), or for hip fracture (HR = 1.82; 95% CI = 1.62-2.06). There was no significant difference in risk ratio between men and women. Subsequent fracture risk was marginally downward adjusted when account was taken of BMD. Low BMD explained a minority of the risk for any clinical fracture (14%), osteoporotic fracture (17%), and for hip fracture (33%). The risk ratio for all fracture outcomes related to prior fracture decreased significantly with adjustment for age and time since baseline examination. CONCLUSION: A previous history of fracture confers an increased risk of fracture of substantial importance beyond that explained by BMD. The effect is similar in men and women. Its quantitation on an international basis permits the more accurate use of this risk factor in case finding strategies.

Antioxidant and drought-acclimation responses in UV-B-exposed transgenic Nicotiana tabacum displaying constitutive overproduction of H2O2.

Hydrogen peroxide (H2O2) is an important molecule that regulates antioxidant responses that are crucial for plant stress resistance. Exposure to low levels of ultraviolet-B radiation (UV-B, 280-315 nm) can also activate antioxidant defenses and acclimation responses. However, how H2O2 and UV-B interact to promote stress acclimation remains poorly understood. In this work, a transgenic model of Nicotiana tabacum cv Xanthi nc, with elevated Mn-superoxide dismutase (Mn-SOD) activity, was used to study the interaction between the constitutive overproduction of H2O2 and a 14-day UV-B treatment (1.75 kJ m-2 d-1 biologically effective UV-B). Subsequently, these plants were subjected to a 7-day moderate drought treatment to evaluate the impact on drought resistance of H2O2- and UV-dependent stimulation of the plants' antioxidant system. The UV-B treatment enhanced H2O2 levels and altered the antioxidant status by increasing the epidermal flavonol index, Trolox Equivalent Antioxidant Capacity, and catalase, peroxidase and phenylalanine ammonia lyase activities in the leaves. UV-B also retarded growth and suppressed acclimation responses in highly H2O2-overproducing transgenic plants. Plants not exposed to UV-B had a higher drought resistance in the form of higher relative water content of leaves. Our data associate the interaction between Mn-SOD transgene overexpression and the UV-B treatment with a stress response. Finally, we propose a hormetic biphasic drought resistance response curve as a function of leaf H2O2 content in N. tabacum cv Xanthi.

A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases.

BACKGROUND: The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to improve the accuracy and speed of diagnosis by analyzing large amounts of genomic data and identifying complex multiallelic patterns that may be associated with specific diseases. In this systematic review, we aimed to identify the methodological trends and the ML application areas in rare genetic diseases. METHODS: We performed a systematic review of the literature following the PRISMA guidelines to search studies that used ML approaches to enhance the diagnosis of rare genetic diseases. Studies that used DNA-based sequencing data and a variety of ML algorithms were included, summarized, and analyzed using bibliometric methods, visualization tools, and a feature co-occurrence analysis. FINDINGS: Our search identified 22 studies that met the inclusion criteria. We found that exome sequencing was the most frequently used sequencing technology (59%), and rare neoplastic diseases were the most prevalent disease scenario (59%). In rare neoplasms, the most frequent applications of ML models were the differential diagnosis or stratification of patients (38.5%) and the identification of somatic mutations (30.8%). In other rare diseases, the most frequent goals were the prioritization of rare variants or genes (55.5%) and the identification of biallelic or digenic inheritance (33.3%). The most employed method was the random forest algorithm (54.5%). In addition, the features of the datasets needed for training these algorithms were distinctive depending on the goal pursued, including the mutational load in each gene for the differential diagnosis of patients, or the combination of genotype features and sequence-derived features (such as GC-content) for the identification of somatic mutations. CONCLUSIONS: ML algorithms based on sequencing data are mainly used for the diagnosis of rare neoplastic diseases, with random forest being the most common approach. We identified key features in the datasets used for training these ML models according to the objective pursued. These features can support the development of future ML models in the diagnosis of rare genetic diseases.

Lung ultrasound and postoperative follow-up of congenital diaphragmatic hernia.

Lung ultrasound (LU) has emerged as a valuable tool for assessing pulmonary aeration noninvasively, rapidly, and reliably in different neonatal conditions. However, its role in the preoperative and postoperative evaluation in congenital diaphragmatic hernia (CDH) is still poorly analyzed. We present a cohort of 8 patients diagnosed with CDH who underwent lung ultrasound examinations at various time points before and after surgical correction. The lung ultrasound patterns were compared between two groups: mechanical ventilation ≤ 7 days (MV ≤ 7) and mechanical ventilation > 7 days (MV > 7). The ultrasound findings were also compared to CT scans and chest X-ray images to assess its diagnostic capacity for identifying postoperative complications: pneumothorax, pleural effusion, and pneumonia. Group MV ≤ 7 exhibited a normal pattern even at 48 h postsurgery, while group MV > 7 presented interstitial or alveolointerstitial pattern in both lungs for prolonged periods (2-3 weeks). Furthermore, contralateral LU pattern may be predictive of respiratory evolution.  Conclusion: Lung ultrasound is a valuable tool for evaluating the progressive reaeration of the lung following surgical correction in CDH patients. It demonstrates the ability to diagnose common postoperative complications without the need for radiation exposure while offering the advantages of quick and serial assessments. These findings highlight the potential of lung ultrasound as an effective alternative to conventional imaging methods in the management of CDH. What is Known: • Lung ultrasound evaluates lung aeration and predicts respiratory outcomes in neonatal patients. What is New: • Lung ultrasound is useful in the postsurgical management of congenital diaphragmatic hernia patients, detecting reaeration and respiratory complications.

Pilot evaluation of a virtual training program for child injury prevention.

Unintentional injuries are a leading cause of child death. The present study evaluated the effectiveness of a behavioral injury prevention program for children aged 3-18 years and their caregivers. To accommodate families during the Coronavirus-19 pandemic, training was modified to be delivered virtually. Forty-one children aged 3-18 years and 14 parents/caregivers of children aged 3-5 years attended one of several 4-hour online injury prevention training sessions directed toward residents of Washington state. Training was targeted to three different developmental stages (ages 3-5, 6-12 and 13-18 years). Study outcomes included knowledge about injury prevention strategies, perceived vulnerability for injury, self-efficacy to engage in safety behaviors and behavioral intentions to be safe. Following training, participants showed improved self-efficacy to stay safe, excellent knowledge about the learned material and increased behavioral intention to engage safely. There was minimal change in perceived vulnerability to injury among children; caregivers of young children felt their children were somewhat less vulnerable to injury following the training. Almost all participants said they would recommend the program to others. Results suggest that a virtual behavioral training program delivered remotely is feasible and may be effective to create behavior change and reduce child injury risk. Given its scalability and reach, such programs are recommended for further study, refinement and, if demonstrated effective in larger-scale controlled trials, dissemination to address the leading cause of child mortality in the United States, unintentional injury.

Enhanced passive surveillance for early detection of African and classical swine fevers.

African swine fever (ASF) and classical swine fever (CSF) are transboundary animal diseases (TADs) of pigs. Much effort and resources are regularly put into preventing these diseases' introduction in free areas. Passive surveillance activities bring the highest chances for the early detection of TAD incursions because they are routinely and widely conducted at farms, and because these activities focus on the time between introduction and when the first sample is sent for diagnostic testing. The authors proposed the implementation of an enhanced passive surveillance (EPS) protocol based on collecting data through participatory surveillance actions using an objective and adaptable scoring system to aid the early detection of ASF or CSF at the farm level. The protocol was applied in two commercial pig farms for ten weeks in the Dominican Republic, which is a CSF- and ASF-infected country. This study was a proof of concept, based on the EPS protocol to aid detection of substantial variations in the risk score triggering testing. One of the followed farms had score variation, which triggered testing of the animals, although the test results were negative. The study enables assessment of some of the weaknesses associated with passive surveillance and provides lessons applicable to the problem. Results demonstrate the potential for overcoming some issues preventing the broad application of EPS protocols and suggest that standardised approaches may contribute to the early detection of CSF and ASF introductions.

La peste porcine africaine (PPA) et la peste porcine classique (PPC) sont des maladies animales transfrontalières touchant les porcs. De nombreux efforts et ressources sont régulièrement alloués pour prévenir l'introduction de ces maladies dans des zones indemnes. Les activités de surveillance passive offrent les meilleures perspectives de détection précoce des incursions de maladies animales transfrontalières parce qu'elles sont menées de manière systématique et exhaustive dans les élevages, et parce qu'elles se concentrent sur la période entre l'introduction de la maladie et le moment où le premier échantillon est envoyé au laboratoire pour analyse. Les auteurs proposent la mise en oeuvre d'un protocole de surveillance passive renforcée fondé sur la collecte de données via des actions de surveillance participative utilisant un système de notation objectif et adaptable, en vue d'une détection précoce de la PPA et de la PPC dans les élevages. Ce protocole a été appliqué en République dominicaine, pays infecté par la PPA et la PPC, dans deux élevages porcins commerciaux pendant dix semaines. Cette étude était destinée à valider le principe de la méthode et se fondait sur le protocole de surveillance passive renforcée pour mieux détecter les variations substantielles de la note de risque qui conduisent à tester les animaux. L'un des élevages suivis a présenté une variation de cette note, ce qui a conduit à tester les animaux mais les tests se sont révélés négatifs. L'étude permet d'évaluer certaines des faiblesses associées à la surveillance passive et apporte des enseignements applicables à ce problème. Les résultats illustrent le potentiel de l'approche à surmonter certaines des problématiques empêchant l'application extensive des protocoles de surveillance passive renforcée. Ils suggèrent également que des approches normalisées pourraient contribuer à la détection précoce des cas d'introduction de la PPC et de la PPA.

La peste porcina africana (PPA) y la peste porcina clásica (PPC) son enfermedades animales transfronterizas que afectan al cerdo. Periódicamente se dedican grandes esfuerzos y cuantiosos recursos a evitar que estas enfermedades penetren en zonas que están exentas de ellas. Las actividades de vigilancia pasiva son las más eficaces para detectar con prontitud toda incursión de enfermedades animales transfronterizas, no solo por la regularidad y amplitud con que se llevan a cabo en las explotaciones, sino también porque inciden específicamente en el intervalo entre la penetración de una enfermedad y el momento en que se envía la primera muestra para que sea sometida a pruebas de diagnóstico. Los autores propusieron que se aplicara un protocolo de vigilancia pasiva reforzada que reposaba en la obtención de datos mediante actividades de vigilancia participativa, empleando para ello un sistema objetivo y adaptable de puntuación que ayudaba a detectar con prontitud la presencia en las explotaciones de PPA o PPC. Dicho protocolo fue aplicado a lo largo de diez semanas en dos explotaciones porcinas industriales de la República Dominicana, país en el que ambas infecciones están presentes. El estudio, que sirvió para poner a prueba la idea, pasaba por la aplicación del protocolo de vigilancia pasiva reforzada para ayudar a detectar variaciones sustanciales de la puntuación del nivel de riesgo que activa la realización de pruebas. En una de las explotaciones estudiadas se produjo una variación de la puntuación, cosa que activó la realización de pruebas en los animales, aunque estas arrojaron resultado negativo. El estudio aquí descrito permite evaluar algunos de los puntos débiles de la vigilancia pasiva y extraer enseñanzas aplicables al problema. Los resultados demuestran que es posible salvar algunas de las dificultades que impiden la aplicación generalizada de protocolos de vigilancia pasiva reforzada y dejan pensar que quizá el uso de planteamientos normalizados pueda ayudar a detectar con prontitud los casos de penetración de PPC o PPA.

Marginalization and tooth loss in older Mexican adults.

OBJECTIVE: To examine the association between the level of marginalization and tooth loss in adults aged ≥50 years in Mexico. METHODS: A retrospective cross­sectional study was conducted on 2098 adults selected from communities presenting both high and medium levels of marginalization, with data obtained from the annual reports of the Epidemiological Surveillance System of Oral Pathologies 2019-2022. Analysis considered sociodemographic characteristics such as sex, age, and years of education. The prevalence of tooth loss was determined using the Decayed, Missing and Filled teeth (DMFT) index. Negative binomial regression was used to estimate rate ratio (RR) and 95% confidence intervals (CIs), using the presence of lost teeth as an outcome. RESULTS: Most (62.4%) participants had lost at least one tooth, of whom 60.3% had a medium level of marginalization, 28.8% a high level, and 10.9% a very high level. More adults who lived in high or very high marginalization communities had lost teeth [RR=1.19 (95% CI 1.08 - 1.30)] than those living in communities with a medium level of marginalization. More males [RR=1.19 (95% CI 1.09 - 1.31)], adults ≥70 years [RR=1.77 (95% CI 1.57 - 1.99)], people who were illiterate [RR=1.60 (95% CI 1.35 - 1.88)] or who had poor oral hygiene [RR=1.26 (95% CI 1.15 - 1.38)] had also lost teeth. CONCLUSION: High and very high marginalization was associated with tooth loss in adults ≥50 years in Mexico. Effective oral health strategies are required to prevent tooth loss, as are interventions to improve access to and quality of dental services for marginalized communities.

Use of virtual reality compared to the role-playing methodology in basic life support training: a two-arm pilot community-based randomised trial.

INTRODUCTION: Virtual reality (VR) is a technology that allows us to replace our real environment with one created with digital media. This technology is increasingly used in the training of healthcare professionals, and previous studies show that the involvement and motivation of students who participate in activities that use VR increases compared to those who undergo training with the traditional methodology. The main aim of the study is to evaluate the learning curve of the students using a VR environment, to evaluate the satisfaction with the training activity and the cost, and to compare them with training that uses role-playing methodology. METHODOLOGY: Two-arm community-based randomised trial. The control arm will base the training on the usual role-playing methodology. The second arm or intervention arm will base the Basic Life Support (BLS) training on a VR programme. RESULTS: Statistically significant differences are observed in the percentage of correct answers in favour of the group that used VR as a learning methodology in the test taken at the end of the course. These differences disappear when comparing the results of the test performed at six months. The satisfaction rating of the role-playing training activity has a score of 9.37 out of a total of 10 and satisfaction with the VR methodology has a score of 9.72. The cost analysis shows that the cost of training a student by role-playing is 32.5 euros and, if trained by VR, it is 41.6 euros. CONCLUSIONS: VR is a tool that allows the consolidation of a greater amount of knowledge in the short term and can be used for situations such as pandemics, where traditional formats are not available. In relation to student satisfaction with the training activity, the rating in both groups is very high and the differences are minimal. The results will be directly applicable to the decision making of BLS training in Central Catalonia in relation to the scheduling of training activities that use the VR methodology in an uncertain environment.

Postoperative day one systemic inflammatory response syndrome is a powerful early biomarker of clinically relevant pancreatic fistula.

BACKGROUND: Clinically relevant postoperative pancreatic fistula (CR-POPF) is the most feared complication following pancreaticoduodenectomy (PD). There is increasing evidence that very early postoperative factors can be helpful to identify high-risk patients. The aim of this study is to analyze whether postoperative day one (POD1) systemic inflammatory response can be used as an early biomarker of CR-POPF development. METHODS: All patients undergoing PD from 2014 to 2020 were considered. Variables were extracted from a prospectively held database. Clinical and perioperative variables, including POD1 systemic inflammatory response syndrome (SIRS) and C-reactive protein level were collected. To elucidate the independent role of early CR-POPF biomarkers, multivariate hierarchical logistic regression analyses were planned. RESULTS: Out of 243, 213 patients were included in this analysis. CR-POPF occurred in 49 (23.0%) patients and 90-day mortality was 1.4%. POD1 SIRS was reported in 65 (30.5%) patients. Following hierarchical logistic regression analyses, CR-POPF was independently associated with body mass index (OR = 2.787, p = 0.003), soft pancreatic texture (OR = 4.258, p = 0.002) and POD1 SIRS (OR = 50.067, p = 0.001). CONCLUSION: POD1 SIRS is powerfully associated with CR-POPF and therefore it could be used as a tool to optimize postoperative care of PD patients. Further prospective studies are needed to validate these findings.

Nonvenereal Infections in Spanish Dermatology Clinics: Results of the DIADERM Study. / Enfermedades infecciosas no venéreas atendidas en consultas de Dermatología en España: resultados del estudio DIADERM.

BACKGROUND AND OBJECTIVE: The burden of nonvenereal infections in Spanish dermatology practice has not yet been evaluated. The aim of this study was to analyze the overall weight of these infections in outpatient dermatology caseloads. MATERIAL AND METHODS: Observational cross-sectional study of diagnoses made by a random selection of dermatologists from the Spanish Association of Dermatology and Venereology (AEDV) working in outpatient dermatology clinics. The data were obtained through the anonymous DIADERM survey. Diagnoses of infectious diseases were selected using codes from the International Classification of Diseases, Tenth Revision. After excluding sexually transmitted infections, the diagnoses were classified into 22 groups. RESULTS: Spanish dermatologists diagnosed an estimated 16190 (95% CI, 9338-23042) nonvenereal infections on average per week, a figure that accounted for 9.33% of the dermatology caseload. The most common diagnostic groups were nonanogenital viral warts (7475 diagnoses, 46.17% of nonvenereal infections), dermatophytosis (3336, 20.61%), and other viral infections (1592, 9.84%), which included Molluscum contagiosum infections. Nonvenereal infections were more common than noninfectious dermatologic conditions in private clinics (P<.0020) and adults (P<.00001). Patients with these infections were also more likely to be discharged than those with other conditions in both public (P<.0004) and private (P<.0002) practices. CONCLUSIONS: Nonvenereal infections are frequent in dermatology. They are the third most common reason for outpatient visits, behind actinic keratosis and nonmelanoma skin cancer. By enhancing the participation of dermatologists in the management of skin infections and encouraging interactions with other specialists, we will be able to carve out a niche in an area we have scarcely ventured into to date.