Sistema Regional de Información
en línea para Revistas Científicas de América Latina,
el Caribe, España y Portugal

Introduction: Multiple polymorphic variants of the Methylenetetrahydrofolate reductase gene associated with folate-sensitive birth defects have been described; the rs1801133 polymorphism is considered as the most frequent genetic cause of hyperhomocysteinemia. Objective: To relate maternal plasma homocysteine ​​concentrations and the different genotypes of the rs1801133 polymorphism with the risk to have folate-sensitive birth defects in their offspring. Material and Methods: An analytical case-control study was conducted in Villa Clara, including 83 mothers with offspring with folate-sensitive birth defects between 2013 and 2018 and an equal number of controls who underwent genotyping of the rs1801131 polymorphism and determination of total homocysteine ​​levels. Results: The distribution of homocysteine ​​concentrations between case and control mothers was not homogeneous (10.56 μmol/L and 5.34 μmol/L, p=0.000). In mothers with CC genotype the median was 5.28 μmol/L, a figure that was two and three times higher in those with heterozygous genotypes (CT) and homozygous for the minor allele (TT), 11.26 μmol/L and 18.40 μmol/L, respectively. Risk levels were found in three of the 14 mothers with TT genotype (21,43%) and in one heterozygote mother, while 64,29% (9/14) with homozygous TT genotype presented hyperhomocysteinemia and no case was observed among mothers with CC genotype. Conclusions: Hyperhocysteinemia is a risk factor for folate-sensitive congenital defects.  Mothers with TT genotype present higher levels of homocysteine, which, together with folic acid deficiency, are factors related to an increased susceptibility to different folate-sensitive birth defects in their offspring.

Introduction: Cutaneous malignant melanoma is a highly aggressive and lethal neoplasm that has increased its incidence in epidemic proportions. Objective: To characterize clinically, epidemiologically and histopathologically patients with the diagnosis of cutaneous malignant melanoma attended at the “Celestino Hernández Robau” Teaching University Hospital between 2017 and 2021. Material and Methods: A cross-sectional descriptive investigation was carried out on 151 patients with histological diagnosis of cutaneous malignant melanoma attended at the Department of Peripheral Tumors of Celestino Hernández Robau Teaching University Hospital in the period between 2017 and 2021. Epidemiological, clinical and histopathological variables were analyzed. Individual medical records and biopsy reports were reviewed to obtain the information. Descriptive statistics were used. Results: The results show that 50.3 % of patients were men and 35.8 % were over 70 years of age. The clinical varieties of superficial and nodular extension were the most common, each one with 35.8 % of cases; and the trunk was the most common location in 47.7 % of the cases. Patients diagnosed at stage I predominated (48.3%). The mitotic index was the histological variable most strongly associated with the presence of metastasis (p=0.000; Cramer's V=0.757). Conclusions: There was evidence of an association between the variables Breslow index, ulceration, mitotic index, vascular invasion, lymphatic invasion, and neural invasion with the presence of metastasis. Although most patients were diagnosed at early stages, the proportion of cases in advanced stages reveals persistent shortcomings in the early detection of cutaneous malignant melanoma.

Introduction: Variability in mental health medical practice is a growing phenomenon that reflects the current challenges of providing equitable, quality care in the face of the emergence of new disorders linked to social, technological, and environmental factors. Objective: To analyze the current status of mental health medical practice and the factors that explain its variability in the face of emerging problems. Material and Methods: A narrative review was conducted. Databases such as PubMed, Scopus and SciELO were consulted using descriptors such as mental health, medical variability, and emerging problems. Filters were applied by language (Spanish and English), full-text access, and publications between 2014 and 2024. Of the 89 references reviewed, 37 were selected for their thematic relevance, scientific rigor, and applicability to the study. Results: Key factors contributing to variability were identified: cultural and regional differences, diverse professional training, unequal access to treatments, uneven adoption of technologies, disparities in health policies, and a persistent gap between scientific evidence and clinical practice. Conclusions: Variability, although partly necessary to adapt care to specific contexts, can generate inequities when it is not aligned with the best available evidence. Promoting flexible standardization, strengthening ongoing training, and designing health policies that guarantee equitable access are essential to improve mental health outcomes and reduce disparities in care.

Introduction: Cardiovascular diseases represent a group of pathologies that demand a considerable amount of resources in Primary Health Care. Objective: Examine the relationship between protective factors (acceptance and resilience) and vulnerability factors (depression, anxiety, internalized anger and externalized anger). Material and Methods: A descriptive, observational, cross-sectional study was conducted with the participation of 198 patients with cardiovascular conditions who were administered the following questionnaires: Acceptance subscale of the Illness Cognition Questionnaire (ICQ); Connor-Davidson Resilience Scale (CD-RISC); Patient Health Questionnaire for Depression (PHQ-9); Anxiety subscale of the Hospital Anxiety and Depression Scale (HADS); Subscales of the State-Trait Anger Expression Inventory; Physical Health and Mental Health subscales of the SF-36 Health Survey; Subscales of the ADHHTAe Self-Report Scale (developed from the MBG Questionnaire and the Morisky-Green-Levine Test). Results: In terms of acceptance and resilience, it was found that acceptance was positively linked to greater treatment adherence, particularly notable in the group of female participants. On the other hand, resilience was established as a key protective factor in both groups, positively associated with better quality of life and negatively with vulnerability factors. Regarding vulnerability factors, it was highlighted that anxiety had a negative impact on treatment adherence in both genders, suggesting that this emotional variable could hinder therapeutic adherence. Conclusions: A positive correlation was found between protective factors and quality of life, whereas a negative correlation was established with vulnerability factors in all patient groups; mental quality of life was especially highlighted.

Introduction: Adolescent pregnancy is a priority problem of public health with negative effects on health, education, and social development. Health education, which is understood as a comprehensive process that promotes knowledge, critical thinking, and informed decision-making, is a key strategy for its prevention. Objective: To analyze the role of health education in the prevention of adolescent pregnancy, considering its ability to promote autonomy and reduce associated risks. Material and Methods: A descriptive documentary study based on a review of scientific and technical literature published between 2019 and 2024 was performed. Recognized databases such as PubMed, SciELO, Redalyc, and repositories of international organizations were consulted. Inclusion and exclusion criteria were applied, selecting 28 relevant sources. DeCS/MeSH descriptors such as "health education," "sexual health education," "adolescent pregnancy," "unintended pregnancy prevention," and "sexual and reproductive health" were used. Results: Health education impacts on three key dimensions of adolescent pregnancy: biological and psychological, sociocultural, and economic. The most effective strategies include tailored sexual health education, access to reproductive health services, and equity-focused public policies. A positive impact was evident in contexts where comprehensive and culturally relevant programs are implemented. Conclusions: Health education is an essential resource for preventing adolescent pregnancy and promoting the exercise of sexual and reproductive rights. Documentary research is limited by the exclusive use of secondary sources, highlighting the need for complementary empirical studies.

Introduction: Artificial intelligence has transformed biomedical research, enabling significant advances in the diagnosis, treatment, and understanding of diseases. Its ability to process large volumes of data has fostered more precise and personalized medicine. Objective: To expand understanding of current scenarios where Artificial Inteligence is integrated with biomedicine, highlighting its applications, benefits, and associated ethical challenges. Materials and Methods: A narrative review of the scientific literature published between 2015 and 2023 was conducted. Databases such as PubMed, Scopus, Web of Science, and SciELO, as well as reports from the WHO and the OECD, were consulted. Inclusion criteria were applied to relevant studies in biomedicine and Artificial Inteligence, with peer review and full text available. Thematic selection and analysis were performed by two independent reviewers. Results: Sustained growth was identified in research on Artificial Inteligence applied to biomedicine, especially in personalized medicine, medical robotics, and drug discovery. Advances in diagnostic imaging, genomic analysis, and clinical recommendation systems are highlighted. Significant challenges were also identified, such as algorithmic bias, model opacity, and data protection. Conclusions: Artificial Inteligence represents a disruptive tool with great potential in biomedicine, but its implementation requires strong ethical and legal frameworks, transparency in algorithms, and collaborative actions to ensure its equitable, safe, and reproducible application in clinical and scientific settings.

Introduction: The care provided to oral health problems in pregnant women has not been able to converge with the same emphasis when compared to the attention given to malnutrition, high blood pressure, anxiety, depression and other diseases in this group of patients. Objective: To determine the impact of an educational strategy for the promotion of oral health in a group of blind pregnant women. Material and Method: A quantitative, exploratory, descriptive research with a single group pre-experimental design was carried out. The before and after intervention was compared in a population of pregnant women with visual disabilities who were participants in an educational strategy for the promotion of oral health in vulnerable pregnant women, developed in the city of Quito in the period May - June 2023. Results: The actions of the implemented strategy had a positive impact on the level of bacterial plaque in the pregnant women who were sampled. Furthermore, the significance of the impact of the implementation of the educational strategy on the knowledge about oral health acquired by blind pregnant women was confirmed. Conclusions: It is essential to recognize that certain population groups, such as people with special needs or disabilities, face a disproportionately greater burden of oral diseases due to structural discrimination and lack of equitable access to health services.

Introduction: It is imperative to foster interdisciplinary collaboration among dentists, endocrinologists, and primary care physicians to ensure a comprehensive approach to the diagnosis and management of this condition. Objective: To examine the existing scientific evidence regarding various aspects of Addison's disease in the dental office. Material and methods: A literature review was conducted in 2024, with a 15-year selection period; the search was limited to Spanish and English languages. It yielded 40 publications from a total of 78 publications found. The initial search was conducted in three databases: PubMed, Scielo, and Scopus. The search was performed using the following formula: "Early manifestations of Addison's disease" in "Addison's disease in the dental office." Results: Modern treatment of Addison's disease focuses on developing new glucocorticoid administration regimens that reduce associated morbidity and mortality. Recent research is focused on optimizing these therapies to improve long-term patient outcomes. Conclusions: Early detection and appropriate management of oral manifestations and other related complications are essential to improve the quality of life and prognosis of these patients.

Introduction: Colonic volvulus can occur in the sigmoid (most common due to being the portion with the greatest mobility of the large intestine), cecum, and transverse colon (less common); however, it can present in an unusual manner, masking the clinical picture and turning it into a true diagnostic challenge for the assisting surgeon. Objective: To add arguments for clinical diagnosis of an unusual presentation of colonic volvulus. Clinical case: Patient who was admitted to the emergency room with abdominal pain, nausea, vomiting, signs of shock, acute abdomen, abdominal distension and detection of intestinal transit; he was operated on urgently and finally diagnosed with volvulus of the transverse colon. Conclusions: Transverse colon volvulus is a real diagnostic challenge for the general surgeon due to its unusual presentation and because it is a rare cause of low mechanical intestinal obstruction, with loop necrosis being the most feared complication.

Introduction: Crohn's disease is characterized by periods of intestinal inflammation alternating remissions and exacerbations; it is chronic, incurable and has a disabling course due to the development of complications, such as: stenosis, fistulas, granulomas, abscesses and formation of malignant neoplasms from the mouth to the anus. Objective: To demonstrate the diagnostic uncertainty of a disease as protean as Crohn's disease identified in the care of a patient with intestinal obstruction. Case presentation:  The case is about a young patient who experienced mesogastric abdominal pain, of colic type, intermittent, accompanied by nausea, vomiting, and intestinal transit obstruction. An intestinal obstruction due to a massive infestation with Ascaris lumbricoides was considered; however, it was caused by Crohn's disease. It was successfully addressed and he recovered without any complications. Conclusions: Crohn's disease sometimes presents in unusual ways and with other associated conditions, which is considered a real challenge for the attending physician.