Analysis on the predictive value of different variables in pulp stones appearance frequency and its pulpal response to cold stimuli.

This study evaluated the presence of pulp stones in a Seville population, correlating their presence and size with state of the crown and pulp response to cold stimuli, encompassing variables such as age, gender, location (arch and teeth group). The study included 1090 teeth corresponding to 146 patients. Each patient underwent a visual examination, periapical radiographs and sensibility tests. The SPSS 25 software (SSPS, Chicago, USA) was used to carry out the statistical analysis, doing logistic regression to compare variables and Chi-square with a significance level p < 0.001. Of 1090 teeth studied, 524 were molars and 566 premolars. Of the molars, 316 showed calcifications and of the 566 premolars only 6 showed pulp stones (p < 0.001). Due to the low prevalence of premolar pulp calcifications, our study included only molars. These calcifications were significantly more common in women than in men (71.5% vs. 28.5%) and in people over 40 years. Significant differences were identified between the state of the crown and the pulp response with the presence of pulp stones, although size did not influence this association. The set of independent variables has a statistically significant effect on the criterion variable (χ2 = 260.25, p < 0.001). There was a significant association between the state of the crown and the type of pulp response with the presence of pulp stones, but not with the size of the calcification. In conclusion, the highest probability to find pulpal calcification was observed in women over 40 years old in upper molars, and though the pulpal reaction of teeth with pulpal calcification varies, frequently there is an immediate response to a cold stimulus. There is no correlation between the size of pulp stones and the condition of the crown, just as the sensitivity of the pulp did not correlate with the size of pulp stones.

Role of pyrimidine salvage pathway in the maintenance of organellar and nuclear genome integrity.

Nucleotide biosynthesis proceeds through a de novo pathway and a salvage route. In the salvage route, free bases and/or nucleosides are recycled to generate the corresponding nucleotides. Thymidine kinase (TK) is the first enzyme in the salvage pathway to recycle thymidine nucleosides as it phosphorylates thymidine to yield thymidine monophosphate. The Arabidopsis genome contains two TK genes -TK1a and TK1b- that show similar expression patterns during development. In this work, we studied the respective roles of the two genes during early development and in response to genotoxic agents targeting the organellar or the nuclear genome. We found that the pyrimidine salvage pathway is crucial for chloroplast development and genome replication, as well as for the maintenance of its integrity, and is thus likely to play a crucial role during the transition from heterotrophy to autotrophy after germination. Interestingly, defects in TK activity could be partially compensated by supplementation of the medium with sugar, and this effect resulted from both the availability of a carbon source and the activation of the nucleotide de novo synthesis pathway, providing evidence for a compensation mechanism between two routes of nucleotide biosynthesis that depend on nutrient availability. Finally, we found differential roles of the TK1a and TK1b genes during the plant response to genotoxic stress, suggesting that different pools of nucleotides exist within the cells and are required to respond to different types of DNA damage. Altogether, our results highlight the importance of the pyrimidine salvage pathway, both during plant development and in response to genotoxic stress.

Eating disorders mothers and their children: a systematic review of the literature.

To provide an overview of the impact of maternal eating disorders (ED) on child development in a number of domains including feeding and eating behaviour, neuropsychological profile and cognitive development, psychopathology and temperament. PubMed, Embase and PsychInfo were searched for studies exploring the impact of maternal ED on children between January 1980 and September 2018. Initial search yielded 569 studies. After exclusion, 32 studies were reviewed. Overall, available evidence shows that children of mothers with ED are at increased risk of disturbances in several domains. They exhibit more difficulties in feeding and eating behaviours, display more psychopathological and socio-emotional difficulties, and they are more likely to be described as having a difficult temperament. Maternal ED have an impact on child psychological, cognitive and eating behaviours, and might affect the development of ED in the offspring. Future research should focus on resilience and on which protective factors might lead to positive outcomes. These factors can be then used as therapeutic and preventative targets.

Testing the properties of the triarchic model of psychopathy in a community sample: Self-reported trait aggression and drug consumption associations.

The triarchic model of psychopathy encompasses different conceptions of psychopathic personality characterized by three phenotypic components: boldness, disinhibition, and meanness. Psychopathy is a complex construct at both emotional and behavioral level. The aim of this study was to determine the core elements of psychopathic personality in a community sample and analyze the relation between these elements and other personality traits such as aggression, and certain specific behavioral manifestations such as substance use. The study sample comprised 1,159 participants aged between 17 and 74 years, who were administered the Triarchic Psychopathy Questionnaire, the Impulsive-Premeditated Aggression Scale, and the Aggression Questionnaire. The results show that the constructs of meanness and disinhibition are more highly associated with different forms of both impulsive and premeditated aggression. Furthermore, men scored higher on all three components of the triarchic model compared to women. Finally, higher substance use (tobacco and drugs) was associated with higher scores in meanness, boldness, and disinhibition. These findings demonstrate the importance of assessing psychopathy in a community sample, and the detection of possible risk factors for the disorder.

Intimate partner violence is associated with increased maternal hair cortisol in mother-child dyads.

BACKGROUND: The chronic consequences of intimate partner violence (IPV) on HPA activation are a topic of debate. The current study investigated hair cortisol concentrations in female victims of IPV and their children. METHODS: A total of 52 mother-child dyads were divided into two groups depending on exposure to IPV: IPV group (n=27 dyads) and control group (n=25 dyads). Hair cortisol concentration was measured in 1-cm-long hair strands, representing 30days of exposure before assessment. PTSD and depression symptoms were assessed in the mother and child. RESULTS: Women reporting IPV presented with higher hair cortisol levels, depression and PTSD symptoms severity in comparison to control women. Children who witnessed IPV reported more severe PTSD symptoms, but depressive symptoms and hair cortisol were not statistically different than those in control children. Correlation analyses revealed a positive association between the number of injury events and the level of hair cortisol in children. No associations between the hair cortisol levels in mothers and those in their children were found. CONCLUSION: Higher hair cortisol levels detected in women exposed to IPV reflected long-lasting changes in HPA axis functioning associated with chronic stress exposure. Children whose parents recurrently engage in violent conflicts with intimate partners may often feel threatened and consequently reporting more PTSD-related symptoms. Given that experiencing and witnessing violence during childhood and adolescence are predictive of intimate partner violence in adulthood, the need of early interventions is crucial.

Arabidopsis thaliana thymidine kinase 1a is ubiquitously expressed during development and contributes to confer tolerance to genotoxic stress.

Thymidine kinase catalyzes the first step in the nucleotide salvage pathway by transferring a phosphate group to a thymidine molecule. In mammals thymidine kinase supplies deoxyribonucleotides for DNA replication and DNA repair, and the expression of the gene is tightly regulated during the cell cycle. Although this gene is phylogenetically conserved in many taxa, its physiological function in plants remains unknown. The genome of the model plant Arabidopsis thaliana has two thymidine kinase genes (AtTK1a and AtTK1b) and microarray data suggest they might have redundant roles. In this study we analyzed the TK1a function by evaluating its expression pattern during development and in response to genotoxic stress. We also studied its role in DNA repair by the characterization of a mutant that contained the T-DNA insertion in the promoter region of the TK1a gene. We found that TK1a is expressed in most tissues during plant development and it was differentially induced by ultraviolet-C radiation because TK1b expression was unaffected. In the mutant, the T-DNA insertion caused a 40 % rise in transcript levels and enzyme activity in Arabidopsis seedlings compared to wild-type plants. This elevation was enough to confer tolerance to ultraviolet-C irradiation in dark conditions, as determined by root growth, and meristem length and structure. TK1a overexpression also provided tolerance to genotoxins that induce double-strand break. Our results suggest that thymidine kinase contributes to several DNA repair pathways by providing deoxythymidine triphosphate that serve as precursors for DNA repair and to balance deoxyribonucleotides pools.

Use of sacubitril/valsartan in patients with heart failure: evidence from the real world.

BACKGROUND: To characterize the use of sacubitril/valsartan in a group of patients with heart failure in Colombia. RESEARCH DESIGN AND METHODS: Follow-up study of patients with heart failure who started sacubitril/valsartan and were affiliated with the Colombian health system between 2019 and 2021. Sociodemographic, clinical, and pharmacological variables and adherence and persistence of use were identified. RESULTS: A total of 514 patients were identified, with a mean age of 65.7 years, 73.7% of whom started sacubitril/valsartan at low doses, and only 12.5% reached the maximum dose. Adherence was 78.2% and persistence was 56.8% at 1 year of follow-up. The increase in systolic blood pressure (odds ratio (OR): 1.01; 95% CI: 1.00-1.03) and the use of ß-blockers (OR: 2.63; 95% CI: 1.42-4.85) were correlated with a greater persistence, while receiving furosemide (OR: 0.59; 95% CI: 0.39-0.89) and not having received renin - angiotensin - aldosterone system inhibitors in the 3 months before starting sacubitril/valsartan (OR: 0.48; 95% CI: 0.31-0.76) were associated with lower persistence. CONCLUSIONS: The persistence of treatment 1 year after starting sacubitril/valsartan was not high, and a small proportion of patients reached the target dose of the drug. Nontitration of the drug dose was common.

Spatiotemporal Distribution of Non-syndromic Orofacial Clefts in Villa Clara Province, Cuba, 2013-2018.

INTRODUCTION: To discern environmental factors that, along with genes influencing susceptibility, drive the occurrence of non-syndromic congenital disorders, it is important to identify clusters of these abnormalities. OBJECTIVE: Determine the adjusted prevalence of orofacial clefts in Villa Clara Province, Cuba, and identify and describe their spatiotemporal variability during January 2013-December 2018. METHODS: Cases were selected from a total of 46,007 births that took place in the province's four maternity hospitals during the study period. Of these, 36 cases of newborns with either prenatal or postnatal non-syndromic orofacial cleft diagnoses were obtained from hospital and community registries. We applied spatial statistical analysis techniques with the aim of identifying areas within the province with the highest prevalence. RESULTS: Adjusted prevalence was 0.78 per 1000 births. The most common non-syndromic orofacial congenital abnormality was cleft lip with or without cleft palate. Frequency of congenital abnormalities increased during the first two years of the study and decreased during the last two years. A primary spatiotemporal cluster was identified in two contiguous municipalities in 2017 and a secondary one in two other neighboring municipalities between 2014 and 2016. CONCLUSIONS: Spatiotemporal analysis of non-syndromic orofacial clefts in Villa Clara Province, Cuba, identified two spatiotemporal clusters, constituting an opportunity to better understand the etiology of orofacial clefts.

Class II subdivision: Cone beam computed tomography- CBCT Analysis.

BACKGROUND: To estimate whether there is skeletal and/or dental asymmetry in class II subdivision patients, between the Class II side and the Class I side using of cone beam computed tomography (CBCT). MATERIAL AND METHODS: A sample of 30 patients, from a private clinic, retrospectively selected; with a class II subdivision diagnosis requiring treatment, who underwent wide-field CBCT that met the inclusion criteria. The data was processed with Dolphin 3D version 11.95 Premium software. The craniometric points, as well as the spatial orientation scheme of the three-dimensional model were proposed by Craig Minich, et al. (1). RESULTS: The Class II subdivision side and the Class I side of each patient were compared through intramaxillary, intramandibular, and intermaxillary measurements, evaluating each one in three dimensions (sagittal, frontal, and axial). Also, the measurements made from the three-dimensional volume, were contrasted with those generated in the biplane views. The level of significance used was 0.05. Statistical analysis was performed using the R program (R Development Core Team), version 3.4.4. The intraoperative variability was previously verified using the Dahlberg formula. This error is 0.35 -1.10, so the spatial orientation and placement of craniometric points are repeatable and reliable. CONCLUSIONS: Statistically significant differences have been found with respect to skeletal values and dentoalveolar position. Regarding the skeletal findings, the class II subdivision side is narrower and there is a shortening of the condylar branch. In the dentoalveolar position on this side, the upper molar and canine are in an advanced position, the lower molar is posterior and lower than the contralateral and the lower canine is in a delayed position. Furthermore, measurements made from a two-dimensional image cannot be extrapolated with those made directly from a three-dimensional volume. The problem is generated by a deviation in dental position as well as an underlying asymmetry. Key words:Class II subdivision, cone beam computed tomography, skeletal asymmetry, dentoalveolar position.

Recovery of immune control over herpes simplex virus type 1 in female victims of intimate partner violence.

OBJECTIVES: To assess the course of immune control over Herpes simplex virus type 1 (HSV-1) through three salivary measures: neutralization of HSV-1, levels of specific antibody against HSV-1 (HSV-1-sIgA) and total immunoglobulin A (total sIgA), and to determine the factors that contribute to its recovery or deterioration. Several studies have demonstrated that intimate partner violence (IPV) affects immune responses in women, but none have investigated the impact longitudinally over time. METHODS: Women (n = 60), who participated in our previous cross-sectional study (T-1) and who had been either physically/psychologically (n = 22) or psychologically abused (n = 14) by their partners, were evaluated 3 years later (T-2). A control group of women (n = 24) was included for comparison. Saliva samples were collected twice a day (8 AM-9 AM, and 8 PM-9 PM) on 2 days spaced 2 weeks apart. Information about psychological and lifestyle variables was obtained by structured interviews. RESULTS: Physically/psychologically abused women had a significant improvement in both the capacity to neutralize HSV-1 and HSV-sIgA levels, and at T-2 the capacity of their saliva to inhibit virus was no longer different from the other two groups. Regression analysis indicated that the cessation of physical IPV was the main predictor of this recovery. CONCLUSIONS: This study shows that recovery of immune control over HSV-1 is possible in women who had been exposed to physical/psychological IPV despite an initially low antiviral capacity. Other longitudinal studies are needed to determine which factors best predict the restoration of physical and emotional well-being in order to design more effective intervention programs.

Recovery from depressive symptoms, state anxiety and post-traumatic stress disorder in women exposed to physical and psychological, but not to psychological intimate partner violence alone: a longitudinal study.

BACKGROUND: It is well established that intimate male partner violence (IPV) has a high impact on women's mental health. It is necessary to further investigate this impact longitudinally to assess the factors that contribute to its recovery or deterioration. The objective of this study was to assess the course of depressive, anxiety and post-traumatic stress disorder (PTSD) symptoms and suicidal behavior over a three-year follow-up in female victims of IPV. METHODS: Women (n = 91) who participated in our previous cross-sectional study, and who had been either physically/psychologically (n = 33) or psychologically abused (n = 23) by their male partners, were evaluated three years later. A nonabused control group of women (n = 35) was included for comparison. Information about mental health status and lifestyle variables was obtained through face-to-face structured interviews. RESULTS: Results of the follow-up study indicated that while women exposed to physical/psychological IPV recovered their mental health status with a significant decrease in depressive, anxiety and PTSD symptoms, no recovery occurred in women exposed to psychological IPV alone. The evolution of IPV was also different: while it continued across both time points in 65.21% of psychologically abused women, it continued in only 12.12% of physically/psychologically abused women while it was reduced to psychological IPV in 51.5%. Hierarchical multiple regression analyses indicated that cessation of physical IPV and perceived social support contributed to mental health recovery, while a high perception of lifetime events predicted the continuation of PTSD symptoms. CONCLUSION: This study shows that the pattern of mental health recovery depends on the type of IPV that the women had been exposed to. While those experiencing physical/psychological IPV have a higher likelihood of undergoing a cessation or reduction of IPV over time and, therefore, could recover, women exposed to psychological IPV alone have a high probability of continued exposure to the same type of IPV with a low possibility of recovery. Thus, women exposed to psychological IPV alone need more help to escape from IPV and to recuperate their mental health. Longitudinal studies are needed to improve knowledge of factors promoting or impeding health recovery to guide the formulation of policy at individual, social and criminal justice levels.

The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome.

BACKGROUND: Docosahexaenoic acid (DHA, 22:6ω3) is a fundamental component of cell membranes, especially in the brain and retina. In the experimental animal, DHA deficiency leads to suboptimal neurological performance and visual deficiencies. Children with the Zellweger syndrome (ZS) have a profound DHA deficiency and symptoms that can be attributed to their extremely low DHA levels. These children seem to have a metabolic defect in DHA biosynthesis, which has never been totally elucidated. Treatment with DHA ethyl ester greatly improves these patients, but if we could normalize their endogenous DHA production we could get additional benefits. We examined whether DHA biosynthesis by Δ4-desaturation could be enhanced in the human species by transfecting the enzyme, and if this could normalize the DHA levels in cells from ZS patients. RESULTS: We showed that the Δ4-desaturase gene (Fad4) from Thraustochytrium sp, which can be expressed by heterologous transfection in other plant and yeast cells, can also be transfected into human lymphocytes, and that it expresses the enzyme (FAD4, Δ4-desaturase) by producing DHA from direct Δ4-desaturation of 22:5ω3. We also found that the other substrate for Δ4-desaturase, 22:4ω6, was parallely desaturated to 22:5ω6. CONCLUSIONS: The present "in vitro" study demonstrates that Δ4-desaturase can be transfected into human cells and synthesize DHA (as well as 22:5ω6, DPA) from 22:5ω3 and 22:4ω6, respectively, by putative Δ4-desaturation. Even if this pathway may not be the physiological route for DHA biosynthesis "in vivo", the present study opens new perspectives for the treatment of patients within the ZS spectrum.

Nanomaterials in Dentistry: State of the Art and Future Challenges.

Nanomaterials are commonly considered as those materials in which the shape and molecular composition at a nanometer scale can be controlled. Subsequently, they present extraordinary properties that are being useful for the development of new and improved applications in many fields, including medicine. In dentistry, several research efforts are being conducted, especially during the last decade, for the improvement of the properties of materials used in dentistry. The objective of the present article is to offer the audience a complete and comprehensive review of the main applications that have been developed in dentistry, by the use of these materials, during the last two decades. It was shown how these materials are improving the treatments in mainly all the important areas of dentistry, such as endodontics, periodontics, implants, tissue engineering and restorative dentistry. The scope of the present review is, subsequently, to revise the main applications regarding nano-shaped materials in dentistry, including nanorods, nanofibers, nanotubes, nanospheres/nanoparticles, and zeolites and other orders porous materials. The results of the bibliographic analysis show that the most explored nanomaterials in dentistry are graphene and carbon nanotubes, and their derivatives. A detailed analysis and a comparative study of their applications show that, although they are quite similar, graphene-based materials seem to be more promising for most of the applications of interest in dentistry. The bibliographic study also demonstrated the potential of zeolite-based materials, although the low number of studies on their applications shows that they have not been totally explored, as well as other porous nanomaterials that have found important applications in medicine, such as metal organic frameworks, have not been explored. Subsequently, it is expected that the research effort will concentrate on graphene and zeolite-based materials in the coming years. Thus, the present review paper presents a detailed bibliographic study, with more than 200 references, in order to briefly describe the main achievements that have been described in dentistry using nanomaterials, compare and analyze them in a critical way, with the aim of predicting the future challenges.

Maize Thymidine Kinase Activity Is Present throughout Plant Development and Its Heterologous Expression Confers Tolerance to an Organellar DNA-Damaging Agent.

Thymidine kinase 1 (TK1) phosphorylates thymidine nucleosides to generate thymidine monophosphate. This reaction belongs to the pyrimidine salvage route that is phylogenetically conserved. In the model plant Arabidopsis thaliana, TK activity contributes to maintain nuclear and organellar genome integrity by providing deoxythymidine-triphosphate (dTTP) for DNA synthesis. Arabidopsis has two TK1 genes (TK1a and TK1b) and double mutants show an albino phenotype and develop poorly. In contrast, maize (Zea mays L.) has a single TK1 (ZmTK1) gene and mutant plants are albino and display reduced genome copy number in chloroplasts. We studied the role of ZmTK1 during development and genotoxic stress response by assessing its activity at different developmental stages and by complementing Arabidopsis tk1 mutants. We found that ZmTK1 transcripts and activity are present during germination and throughout maize development. We show that ZmTK1 translocation to chloroplasts depends on a 72-amino-acid N-signal and its plastid localization is consistent with its ability to complement Arabidopsis tk1b mutants which are hypersensitive to ciprofloxacin (CIP), a genotoxic agent to organellar DNA. Also, ZmTK1 partly complemented the Arabidopsis double mutant plants during development. Our results contribute to the understanding of TK1 function in monocot species as an organellar enzyme for genome replication and repair.

Hormonal Alterations in Victimized Women Explained by Their Hostile Reactions in Coping with Couple Violence.

Recent studies have highlighted the dysregulation of hypothalamic-pituitary-adrenal (HPA) axis activity and its end products, cortisol and dehydroepiandrosterone (DHEA), in women with a history of intimate partner violence (IPV) victimization. These studies analyzed several coping styles, but they neglected to examine the use of violent strategies to confront IPV and the way these strategies affect HPA functioning. This latter proposal would be based on the gender symmetry model of IPV, which sustains that IPV is generally symmetrical, but that women's violence tends to be a reaction to male violence. Hence, the main objective of the present study was to examine whether women's violent reactions to IPV would significantly predict salivary cortisol and DHEA levels, as well as the cortisol/DHEA ratio (assessed through two saliva samples per day on four consecutive work days), controlling for the women's prior IPV abuse, psychopathology, and demographic variables. Our data demonstrated that, specifically, psychological confrontation strategies predicted vespertine cortisol levels (adj R2 = .18, ß = .447, p < .01) and the cortisol/DHEA ratio (adj R2 = .08, ß = .322, p < .05), even after controlling several confounding variables, whereas physical and total confrontation in response to IPV did not predict these hormonal parameters.

Knowledge and management of temporomandibular joint disorders by general dentists in Spain.

BACKGROUND: Given the importance of temporomandibular disorders (TMD), we tried to assess general dentists' knowledge regarding etiology, diagnosis, and treatment in order to understand their attitude. MATERIAL AND METHODS: A sample of 130 general dentists answered a 16-item questionnaire on three areas - etiology, diagnosis, and management of common temporomandibular disorders - as well as a question on the need for continuous education regarding TMD management in common clinical practice in Spain. Given that the descriptive statistics achieved reflect significantly different values among means in each area, a variance analysis for repeated measurements was applied in order to contrast differences among etiology, diagnosis, and management knowledge levels. RESULTS: The contrast test was based on Wilks' Lambda, which assumed a value of 0.120 (F = 467.28; p<.001), demonstrating statistically significant differences among knowledge levels in the three dimensions. The effect size for these differences, measured by partial eta squared, was very high (η2p = 0.88). Such parameters were also analyzed to search for potential differences according to professional experience, with differences being exposed as non-significant at the 0.05 level: etiology (T = 1.60; p = 0.113), diagnosis (T = - 0.17; p = 0.868), and treatment (T = 1.10; p = 0.273). CONCLUSIONS: Our study found that, even though clinicians are generally skilled regarding the knowledge of the etiologic that explain the diagnosis of TMD, they have room for improvement in terms of TMD management compared to the other two areas studied. General dentists could benefit from specific educational programs enhancing TMD management skills. Key words:Temporomandibular disorders (TMD), knowledge and management. Clinical competence, postgraduate, continuing professional development. Surveys, education,orofacial pain.

Diagnostic accuracy of digitized periapical radiographs validated against micro-computed tomography scanning in evaluating orthodontically induced apical root resorption.

The aim of this study was to validate the use of digitized periapical radiographs in evaluating orthodontically induced apical root resorption against micro-computed tomography (micro-CT) scanning as a criterion standard test. In a standardized experimental protocol, 29 premolars in 16 subjects were tipped buccally for 8 wk. Nineteen contralateral premolars not subjected to orthodontic movement served as controls. Standardized periapical radiographs were taken before and after the experimental period (Rx method). These teeth were extracted and scanned using a micro-CT technique with a 9 mum resolution. Two calibrated examiners assessed blindly the presence or absence of apical root resorption on digitized radiographs and three-dimensional reconstructions of the scans. Significant differences were detected between the orthodontically moved teeth and controls: 86% of the orthodontically moved teeth and 21% of the control teeth showed apical root resorption when using micro-CT as a validation method. A total of 55% of the experimental teeth and 5% of the control teeth showed resorption when assessed using Rx method. The Rx method showed a specificity of 78% and a sensitivity of 44%, which means that less than half of the cases with root resorption identified using a CT scanner were identified by radiography. Nearly all the orthodontically moved teeth showed apical root resorption. Apical root resorption may be underestimated when evaluated using digitized periapical radiographs.

Prevalencia de defectos congénitos folato-sensibles en la provincia de Villa Clara / Prevalence of folate-sensitive birth defects in Villa Clara province

Introducción: Los defectos congénitos son un problema global que anualmente afecta a 7,9 millones de recién nacidos, los cuales constituyen la primera causa de muerte en los países desarrollados, y la segunda en países en vías de desarrollo, como es el caso de Cuba. Objetivos: Determinar la prevalencia de defectos congénitos folato-sensibles entre nacidos vivos, nacidos muertos e interrupciones electivas del embarazo. Métodos: Se realizó un estudio descriptivo y transversal en la provincia de Villa Clara donde se incluyeron todos los casos con defectos congénitos folato-sensibles diagnosticados entre 2013 y 2018. Resultados: Las cardiopatías congénitas conotruncales, el síndrome Down y los defectos del tubo neural fueron los fenotipos clínicos más prevalentes. La tasa de prevalencia ajustada fue de 5,79 por 1 000 nacimientos. Se constató una mayor tasa de prevalencia entre nacidos muertos y se interrumpió el 43,26 % de los embarazos con defectos diagnosticados prenatalmente. Las mayores tasas de prevalencia ajustada de cardiopatías y hendiduras labiopalatinas se identificaron en los municipios de Corralillo y Quemado de Güines, mientras que Placetas tuvo las mayores tasas de defectos del tubo neural y síndrome Down, y Manicaragua las de gastrosquisis. Conclusiones: La mayor frecuencia de defectos congénitos entre nacidos muertos puede estar en relación con la gran expresividad variable de los defectos estudiados, donde se incluyen fenotipos clínicos de gravedad. En los diferentes municipios con elevadas tasas de prevalencia de estos defectos están involucrados diferentes factores de riesgo ambientales que actúan sobre un genotipo que predispone a estos defectos congénitos.

Introduction: congenital defects are a global problem, annually affecting 7.9 million newborns. They constitute the leading cause of death in developed countries and the second one in developing countries like Cuba. Objective: to determine the prevalence of folate-sensitive birth defects among live births, stillbirths and elective pregnancy terminations. Methods: a descriptive and cross-sectional study was carried out in Villa Clara province, where all cases with folate-sensitive birth defects diagnosed between 2013 and 2018 were included. Results: conotruncal congenital heart diseases, Down syndrome and neural tube defects were the most prevalent clinical phenotypes. The adjusted prevalence rate was 5.79 per 1,000 births. A higher prevalence rate was found among stillbirths and 43.26% of pregnancies with prenatally diagnosed defects were terminated. The highest rates of adjusted prevalence of cleft lip and palate and heart diseases were identified in Corralillo and Quemado de Güines municipalities, while Placetas had the highest rates of neural tube defects and Down syndrome, as well as Manicaragua those of gastroschisis. Conclusions: the higher frequency of congenital defects among stillbirths may be related to a highly variable expressivity of the studied defects, where serious clinical phenotypes are included. Different environmental risk factors acting on a genotype that predisposes these congenital defects are involved in the different municipalities with high prevalence rates of these defects.

Factores genéticos y ambientales asociados al fenotipo longevo / Genetic and environmental factors associated with the longevity phenotype

Introducción: La prevalencia de la longevidad en la población abierta ha aumentado en los últimos cien años. Existen coincidencias en la literatura sobre la importancia de varios factores relacionados con el estilo de vida como elementos favorecedores de la longevidad. Objetivo: Demostrar la influencia de factores genéticos y ambientales en el fenotipo longevo. Métodos: Se estudiaron 178 individuos provenientes del municipio Santa Clara: 86 longevos de 80 años y más, y 92 no longevos (menores de 80 años). A todos se les aplicó un instrumento de recogida de información genealógica sobre antecedentes de longevidad y factores genéticos y ambientales favorecedores. Para los análisis de asociación se procedió a la confección de tablas de contingencia tetracóricas. Se evaluó la asociación mediante la prueba Ji cuadrado de Mantel-Haenszel, así como V de Cramer para medir la magnitud de asociación; cuando el nivel de significación fue p<0,05, se calculó la oportunidad relativa y el intervalo de confianza al 95 %. Resultados: Las asociaciones resultaron significativas para las siguientes variables: no hábito de fumar, no beber alcohol, tener índice de masa corporal normopeso, no padecer enfermedades respiratorias, tener madre longeva, y ser del sexo femenino. Las razones de ventajas más elevadas se alcanzaron en dos factores: no padecer de enfermedades respiratorias y no beber alcohol. La asociación más fuerte fue con la longevidad de la madre (V Cramer=0,234). Conclusiones: Los factores genéticos y ambientales que, de manera consistente, se asociaron a la longevidad, indicaron que en los individuos estudiados existen factores favorecedores de la longevidad.

Introduction: prevalence of longevity in open population has increased in the last hundred years. There are coincidences in the literature on the importance of various factors related to lifestyle as elements that favour longevity. Objective: to demonstrate the influence of genetic and environmental factors on the longevity phenotype. Methods: 178 individuals from Santa Clara municipality were studied: 86 longevous people aged 80 years and over and 92 non-longevous ones aged less than 80 years. An instrument for collecting genealogical information on longevity antecedents and favorable genetic and environmental factors was applied to all of them. Tetrachoric contingency tables were prepared for the association analysis. This association was evaluated using the Mantel-Haenszel chi-square test, as well as the Cramer's V test to measure the magnitude of association; an odds ratio and a 95% confidence interval were calculated when the significance level was p<0.05. Results: the associations were significant for the following variables: not-smoking and not-drinking alcohol, not suffering from respiratory diseases, having a normal weight body mass index and a longevous mother, as well as being female. The highest odds ratios were achieved in two factors: not suffering from respiratory diseases and not drinking alcohol. The strongest association was with maternal longevity (V Cramer=0.234). Conclusions: the genetic and environmental factors that were consistently associated with longevity indicated that there are factors that favour longevity in the studied individuals.