GEMA-Na and MELD 3.0 severity scores to address sex disparities for accessing liver transplantation: a nationwide retrospective cohort study.

Background: The Gender-Equity Model for liver Allocation corrected by serum sodium (GEMA-Na) and the Model for End-stage Liver Disease 3.0 (MELD 3.0) could amend sex disparities for accessing liver transplantation (LT). We aimed to assess these inequities in Spain and to compare the performance of GEMA-Na and MELD 3.0. Methods: Nationwide cohort study including adult patients listed for a first elective LT (January 2016-December 2021). The primary outcome was mortality or delisting for sickness within the first 90 days. Independent predictors of the primary outcome were evaluated using multivariate Cox's regression with adjusted relative risks (RR) and 95% confidence intervals (95% CI). The discrimination of GEMA-Na and MELD 3.0was assessed using Harrell c-statistics (Hc). Findings: The study included 6071 patients (4697 men and 1374 women). Mortality or delisting for clinical deterioration occurred in 286 patients at 90 days (4.7%). Women had reduced access to LT (83.7% vs. 85.9%; p = 0.037) and increased risk of mortality or delisting for sickness at 90 days (adjusted RR = 1.57 [95% CI 1.09-2.28]; p = 0.017). Female sex remained as an independent risk factor when using MELD or MELD-Na but lost its significance in the presence of GEMA-Na or MELD 3.0. Among patients included for reasons other than tumours (n = 3606; 59.4%), GEMA-Na had Hc = 0.753 (95% CI 0.715-0.792), which was higher than MELD 3.0 (Hc = 0.726 [95% CI 0.686-0.767; p = 0.001), showing both models adequate calibration. Interpretation: GEMA-Na and MELD 3.0 might correct sex disparities for accessing LT, but GEMA-Na provides more accurate predictions of waiting list outcomes and could be considered the standard of care for waiting list prioritization. Funding: Instituto de Salud Carlos III, Agencia Estatal de Investigación (Spain), and European Union.

Association of prenatal exposure to phthalates and synthetic phenols with pubertal development in three European cohorts.

BACKGROUND: There is limited epidemiological evidence on the association of prenatal exposure to phthalates and synthetic phenols with altered pubertal timing. OBJECTIVE: To examine the association of prenatal exposure to phthalates, bisphenol A (BPA), parabens, benzophenone 3 (BP-3), and triclosan (TCS) with pubertal development in girls and boys from three European cohorts. METHODS: Urinary metabolites of six different phthalate diesters (DEP, DiBP, DnBP, BBzP, DEHP, and DiNP), BPA, methyl- (MePB), ethyl- (EtPB), propyl- (PrPB), and butyl-paraben (BuPB), BP-3, and TCS were quantified in one or two (1st and 3rd trimester) urine samples collected during pregnancy (1999-2008) from mothers in three birth cohorts: INMA (Spain), EDEN (France), and MoBa (Norway). Pubertal development of their children was assessed at a single visit at age 7-12 years (579 girls, 644 boys) using the parent-reported Pubertal Development Scale (PDS). Mixed-effect Poisson and g-computation and Bayesian Kernel Machine Regression (BKMR) were employed to examine associations of individual and combined prenatal chemical exposure, respectively, with the probability of overall pubertal onset, adrenarche, and gonadarche (stage 2+) in girls and boys. Effect modification by child body mass index (BMI) was also assessed. RESULTS: Maternal concentrations of the molar sum of DEHP and of DiNP metabolites were associated with a slightly higher probability of having started puberty in boys (relative risk, RR [95% CI] = 1.13 [0.98-1.30] and 1.20 [1.06-1.34], respectively, for a two-fold increase in concentrations), with a stronger association for DiNP in boys with overweight or obesity. In contrast, BPA, BuPB, EtPB, and PrPB were associated with a lower probability of pubertal onset, adrenarche, and/or gonadarche in all boys (e.g. overall puberty, BPA: RR [95% CI] = 0.93 [0.85-1.01] and BuPB: 0.95 [0.90-1.00], respectively), and the association with BPA was stronger in boys with underweight/normal weight. In girls, MEHP and BPA were associated with delayed gonadarche in those with underweight/normal weight (RR [95% CI] = 0.86 [0.77-0.95] and 0.90 [0.84-0.97], respectively). Most of these associations were trimester specific. However, the chemical mixture was not associated with any pubertal outcome in boys or girls. CONCLUSIONS: Prenatal exposure to certain phthalates and synthetic phenols such as BPA may impact the pubertal development of boys, and weight status may modify this effect. BPA may also alter the pubertal development of girls.

Complicated Odontogenic Sinusitis: Extrasinus Infectious Spread.

Odontogenic sinusitis (ODS) is a common cause of orbital, intracranial, and osseous infectious extrasinus complications. Dental infections can spread to the orbital or intracranial spaces though the sinuses via thrombophlebitis or direct extension, or from the dentition or oral cavity via vascular channels in the maxillary alveolar bone. ODS typically presents with unilateral involvement both clinically and radiographically. Any suspicion for extrasinus spread based on history and physical examination should be followed by appropriate imaging, formal dental evaluation, and, when appropriate, ophthalmology and neurosurgery consultations. This multidisciplinary approach ensures appropriate management of both the acute orbital and intracranial complications.

Sex Differences in Transthyretin Cardiac Amyloidosis: Unraveling the Complexities in Epidemiology, Pathophysiology, Diagnosis, and Treatment.

Transthyretin cardiac amyloidosis (ATTR-CA) is characterised by the deposition of transthyretin amyloid fibrils in the heart. ATTR-CA affects both men and women although there is evidence of sex differences in prevalence and clinical presentation. PURPOSE OF REVIEW: This review paper aims to comprehensively examine and synthesise the existing literature on sex differences in ATTR-CA. RECENT FINDINGS: The prevalence of ATTR-CA is higher in males although the male predominance is more apparent in older patients in the wild type form and in TTR genetic variants that predominantly result in a cardiac phenotype in the hereditary variant. Women tend to have less left ventricular hypertrophy (LVH) and a higher ejection fraction at clinical presentation which may contribute to a later diagnosis although the prognosis appears to be similar in both sexes. Female sex is a predictor of a good response to tafamidis 20 mg in TTR polyneuropathy but otherwise there are no data on sex differences in the efficacy of other treatments for ATTR-CA. It is crucial to define specific sex differences in ATTR-CA. A lower cut-off value for LVH in women may be needed to improve diagnosis. It is necessary to increase female representation in clinical trials to better understand possible sex differences in therapeutic management.

CD8+ NKs as a potential biomarker of complete response and survival with lenalidomide plus R-GDP in the R2-GDP-GOTEL trial in recurrent/refractory diffuse large B cell lymphoma.

Background: Diffuse large B cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma worldwide. DLBCL is an aggressive disease that can be cured with upfront standard chemoimmunotherapy schedules. However, in approximately 35-40% of the patients DLBCL relapses, and therefore, especially in this setting, the search for new prognostic and predictive biomarkers is an urgent need. Natural killer (NK) are effector cells characterized by playing an important role in antitumor immunity due to their cytotoxic capacity and a subset of circulating NK that express CD8 have a higher cytotoxic function. In this substudy of the R2-GDP-GOTEL trial, we have evaluated blood CD8+ NK cells as a predictor of treatment response and survival in relapsed/refractory (R/R) DLBCL patients. Methods: 78 patients received the R2-GDP schedule in the phase II trial. Blood samples were analyzed by flow cytometry. Statistical analyses were carried out in order to identify the prognostic potential of CD8+ NKs at baseline in R/R DLBCL patients. Results: Our results showed that the number of circulating CD8+ NKs in R/R DLBCL patients were lower than in healthy donors, and it did not change during and after treatment. Nevertheless, the level of blood CD8+ NKs at baseline was associated with complete responses in patients with R/R DLBCL. In addition, we also demonstrated that CD8+ NKs levels have potential prognostic value in terms of overall survival in R/R DLBCL patients. Conclusion: CD8+ NKs represent a new biomarker with prediction and prognosis potential to be considered in the clinical management of patients with R/R DLBCL. Clinical trial registration: https://www.clinicaltrialsregister.eu/ctr-search/search?query=2014-001620-29 EudraCT, ID:2014-001620-29.

Nitrate exposure from drinking water and dietary sources among Iowa farmers using private wells.

Nitrate levels are increasing in water resources across the United States and nitrate ingestion from drinking water has been associated with adverse health risks in epidemiologic studies at levels below the maximum contaminant level (MCL). In contrast, dietary nitrate ingestion has generally been associated with beneficial health effects. Few studies have characterized the contribution of both drinking water and dietary sources to nitrate exposure. The Agricultural Health Study is a prospective cohort of farmers and their spouses in Iowa and North Carolina. In 2018-2019, we assessed nitrate exposure for 47 farmers who used private wells for their drinking water and lived in 8 eastern Iowa counties where groundwater is vulnerable to nitrate contamination. Drinking water and dietary intakes were estimated using the National Cancer Institute Automated Self-Administered 24-Hour Dietary Assessment tool. We measured nitrate in tap water and estimated dietary nitrate from a database of food concentrations. Urinary nitrate was measured in first morning void samples in 2018-19 and in archived samples from 2010 to 2017 (minimum time between samples: 2 years; median: 7 years). We used linear regression to evaluate urinary nitrate concentrations in relation to total nitrate, and drinking water and dietary intakes separately. Overall, dietary nitrate contributed the most to total intake (median: 97 %; interquartile range [IQR]: 57-99 %). Among 15 participants (32 %) whose drinking water nitrate concentrations were at/above the U.S. Environmental Protection Agency MCL (10 mg/L NO3-N), median intake from water was 44 % (IQR: 26-72 %). Total nitrate intake was the strongest predictor of urinary nitrate concentrations (R2 = 0.53). Drinking water explained a similar proportion of the variation in nitrate excretion (R2 = 0.52) as diet (R2 = 0.47). Our findings demonstrate the importance of both dietary and drinking water intakes as determinants of nitrate excretion.

Estudios de corte transversal: un diseño de investigación a considerar en ciencias morfológicas / Cross section studies: a research design to consider in morphological sciences

Los estudios de corte transversal (ECT) inician en la década de los 40 en países Europeos. Los ECT corresponden a investigaciones de tipo observacional que permiten estudiar prevalencia de enfermedad, determinar asociación entre variables y el desarrollo de un efecto de interés, conocer propiedades de una prueba diagnóstica, y censar poblaciones; describiendo las características de una población en un momento y lugar determinado. Esto implica, que no se requieren periodos de seguimiento, que no son prospectivos ni retrospectivos; características que permiten que sean más baratos y fáciles de realizar en relación a los estudios longitudinales. Por otro lado, al ser de carácter descriptivo sirven como insumo y evidencia preliminar para estudios de mayor complejidad metodológica, como estudios de cohortes. Sin embargo, tienen limitantes y sesgos que deben ser considerados por los investigadores. El objetivo de este manuscrito fue generar un documento de estudio para revisar características esenciales, fortalezas y debilidades; discutir cuestiones metodológicas de los ECT en ciencias de la salud; y proporcionar algunos ejemplos obtenidos de la literatura, para mejor comprensión del diseño.

SUMMARY: Cross-sectional studies (CSS) began European countries in the 1940s in. The CSSs correspond to observational-type investigations that allow studying the prevalence of disease, determining the association between variables and the development of an effect of interest, discovering the properties of a diagnostic test, and censusing populations, describing the characteristics of a population at a given time and place. This implies that follow-up periods are not required, and that they are neither prospective nor retrospective. These characteristics allow them to be cheaper and easier to perform in relation to longitudinal studies. On the other hand, being descriptive in nature, they serve as input and preliminary evidence for studies of greater methodological complexity, such as cohort studies. However, they have limitations and biases that must be considered by researchers. The aim of this manuscript was to generate a study document to review essential characteristics, strengths and weaknesses; discuss methodological issues of ECT in health sciences; and provide some examples obtained from the literature, for a better understanding of the design.

Influence of perinatal and childhood exposure to tobacco and mercury in children's gut microbiota.

Background: Early life determinants of the development of gut microbiome composition in infants have been widely investigated; however, if early life pollutant exposures, such as tobacco or mercury, have a persistent influence on the gut microbial community, its stabilization at later childhood remains largely unknown. Objective: In this exposome-wide study, we aimed at identifying the contribution of exposure to tobacco and mercury from the prenatal period to childhood, to individual differences in the fecal microbiome composition of 7-year-old children, considering co-exposure to a width of established lifestyle and clinical determinants. Methods: Gut microbiome was studied by 16S rRNA amplicon sequencing in 151 children at the genus level. Exposure to tobacco was quantified during pregnancy through questionnaire (active tobacco consumption, second-hand smoking -SHS) and biomonitoring (urinary cotinine) at 4 years (urinary cotinine, SHS) and 7 years (SHS). Exposure to mercury was quantified during pregnancy (cord blood) and at 4 years (hair). Forty nine other potential environmental determinants (12 at pregnancy/birth/infancy, 15 at 4 years and 22 at 7 years, such as diet, demographics, quality of living/social environment, and clinical records) were registered. We used multiple models to determine microbiome associations with pollutants including multi-determinant multivariate analysis of variance and linear correlations (wUnifrac, Bray-Curtis and Aitchison ß-diversity distances), single-pollutant permutational multivariate analysis of variance adjusting for co-variates (Aitchison), and multivariable association model with single taxa (MaAsLin2; genus). Sensitivity analysis was performed including genetic data in a subset of 107 children. Results: Active smoking in pregnancy was systematically associated with microbiome composition and ß-diversity (R2 2-4%, p < 0.05, Aitchison), independently of other co-determinants. However, in the adjusted single pollutant models (PERMANOVA), we did not find any significant association. An increased relative abundance of Dorea and decreased relative abundance of Akkermansia were associated with smoking during pregnancy (q < 0.05). Discussion: Our findings suggest a long-term sustainable effect of prenatal tobacco exposure on the children's gut microbiota. This effect was not found for mercury exposure or tobacco exposure during childhood. Assessing the role of these exposures on the children's microbiota, considering multiple environmental factors, should be further investigated.

Endometriosis de la pared abdominal en relación con cicatriz de operación cesárea: serie de casos / Abdominal wall endometriosis in relation to cesarean section scar: number of cases

RESUMEN: La endometriosis (E), se define como presencia de glándulas endometriales y estroma fuera del útero. Ocasionalmente se presenta como masa sensible en la pared abdominal (PA), en relación con una cicatriz quirúrgica (EPA). Aunque el tratamiento es quirúrgico, existe poca información respecto de la morbilidad postoperatoria (MPO) y la recurrencia de la EPA. El objetivo de este estudio fue determinar MPO y recurrencia en pacientes resecadas quirúrgicamente por EPA. Serie de casos de pacientes con EPA, sometidos a cirugía de forma consecutiva, en Clínica RedSalud Mayor, entre 2011 y 2021. Las variables resultados MPO y recurrencia. Otras variables de interés fueron: tiempo quirúrgico, estancia hospitalaria y mortalidad. Las pacientes fueron seguidas de forma clínica. Se utilizó estadística descriptiva, con medidas de tendencia central y dispersión. Se intervinieron 14 pacientes, con una mediana de edad de 33 años. La medianas del tiempo quirúrgico y estancia hospitalaria; fueron 55 min y 2,5 días respectivamente. La MPO fue 14,2 % (2 casos). Con una mediana de seguimiento de 31 meses, no se verificó recurrencia. Aunque la EPA es poco común, estas lesiones deben sospecharse en mujeres en edad reproductiva con masa palpable en relación con una cicatriz de cirugía ginecológica u obstétrica. Los resultados obtenidos, en términos de MPO y recurrencia, fueron similares a series internacionales.

SUMMARY: Endometriosis (E) is defined as the presence of endometrial glands and endometrial stroma outside the uterus. Occasionally it presents as a sensitive mass in the abdominal wall (AW), in relation to a surgical scar (AWE). Although the treatment is surgical, there is scarce information regarding postoperative morbidity (POM) and recurrence of AWE. The aim of this study was to determine POM and recurrence in patients surgically resected by AWE. Case series of patients with AWE, consecutively submitted to surgery, at RedSalud Mayor Clinic, between 2011 and 2021. Outcome variables were POM and recurrence. Other variables of interest were surgical time, hospital stay and mortality. Patients were followed-up clinically. Descriptive statistics were used, applying central tendency and dispersion measures. 14 patients were intervened, with a median age of 33 years. Median of surgical time and hospital stay were 55 min and 2,5 days respectively. POM was 14.2 % (2 cases). With a median follow-up of 31 months no recurrence was verified. Although AWE is uncommon, these lesions should be suspected in women in fertile age with a palpable mass associated with a scar from gynecologic or obstetric surgery. The results obtained, in terms of POM and recurrence, were like international series.

Correlación entre las pruebas de antígeno prostático específico rápida y sérica / Correlation between rapid and serum prostate-specific antigen tests

Introducción: Al día de hoy no se ha alcanzado un consenso sobre el mejor enfoque para realizar el tamizaje y la detección precoz del Cáncer de Próstata (CaP), en la población. No obstante, hay programas que recomiendan la utilización de la prueba de antígeno prostático específico rápida para la detección de CaP sin un análisis de correlación frente a la prueba sérica. Objetivo: Identificar la correlación entre las pruebas de antígeno prostático específico rápida y sérica, en la población mexicana. Métodos: Se realizó un estudio descriptivo, transversal y retrospectivo, bajo un muestreo no probabilístico por conveniencia. En el período comprendido entre el 25 de mayo al 13 de julio de 2017. Se calcularon los coeficientes de correlación punto biserial (r pb ) y phi (r phi ). Resultados: Se incluyeron 1 635 registros, principalmente de la Ciudad de México y del Estado de México (n= 1 398; 85,5 por ciento, IC95 por ciento 81-89,9). La edad promedio fue de 51 años (DE= 7,68). El valor promedio de antígeno prostático sérico fue de 1,49 ng/mL (DE= 1,91). La proporción de hombres con una prueba rápida positiva (n=60; 3,7 por ciento; IC95 por ciento 2,9-4,6) fue menor (p= 0,0415) en comparación con la proporción de pacientes con una prueba sérica ≥ 4 ng/mL (n=85; 5,2 por ciento; IC95 por ciento 4,1-6,3). El número de casos dobles negativos fue de 1 530 (93,6 por ciento; IC95 por ciento 92,3-94,6) y de dobles positivos fue de 40 (2,4 por ciento; IC95 por ciento1,7-3,2). Los coeficientes de correlación punto biserial y phi mostraron una correlación baja entre la prueba rápida y la prueba sérica de antígeno prostático (rpb= 0,469; p < 0,001; r2= 0,2199 y r ph i= 0,540; p < 0,001; r2= 0,2916). Conclusiones: La prueba de antígeno prostático específico rápida es una herramienta conveniente para los programas de detección de alteración prostática en unidades médicas del primer nivel de atención, donde la prueba sérica no se puede realizar, al ser una prueba con una baja sensibilidad y con un bajo coeficiente de correlación respecto de la prueba de antígeno prostático específico sérica, esto es un punto importante que debe considerarse al diseñar programas de detección oportuna de cáncer de próstata(AU)

Introduction: To date, no consensus has been reached on the best approach for screening and early detection of Prostate Cancer (PCa) in the population. However, there are programs recommending the use of the rapid prostate-specific antigen test for the detection of PCa without a correlation analysis versus the serum test. Objective: To identify the correlation between rapid and serum prostate specific antigen tests in the Mexican population. Methods: A descriptive, cross-sectional and retrospective study was carried out, under a non-probabilistic convenience sampling from May 25 to July 13, 2017. The correlation coefficients of point biserial (rpb) and phi (rphi) were calculated. Results: One thousand six hundred thirty five (1,635) records were included, mainly from Mexico City and the State of Mexico (n= 1,398; 85.5 percent, 95 percent CI 81-89.9). The average age was 51 years (SD= 7.68). The mean value of serum prostate antigen was 1.49 ng/ml (SD= 1.91). The proportion of men with positive rapid test (n=60; 3.7 percent; 95 percent CI 2.9-4.6) was lower (p= 0.0415) compared to the proportion of patients with a serum test ≥ 4 ng/ml (n= 85; 5.2 percent; 95 percent CI 4.1-6.3). The number of double negative cases was 1,530 (93.6 percent; CI95 percent 92.3-94.6) and of double positives was 40 (2.4 percent; CI95 percent 1.7-3.2). The point biserial and phi correlation coefficients showed low correlation between the rapid test and the serum prostate antigen test (rpb= 0.469; p < 0.001; r2= 0.2199 and rphi= 0.540; p < 0.001; r2= 0. 2916). Conclusions: The rapid prostate-specific antigen test is a convenient tool for prostatic alteration detection programs in primary care medical units, where the serum test cannot be performed, however, as it is a test with low sensitivity and with low correlation coefficient with respect to serum prostate-specific antigen testing, this is an important point to consider when designing prostate cancer early detection programs(AU)

Perspectiva teórica del empoderamiento intersectorial por la salud pública en directivos y líderes comunitarios / Theoretical perspective of intersectoral empowerment by public health in community managers and leaders

Introducción: La salud pública es la expresión de un complejo conjunto de factores en los que concurren elementos de diferente índole en estrecho vínculo con las políticas, sectores y actores económicos y sociales. Por ello, la gestión de cualquier proceso de salud, bienestar y calidad de vida requiere la concurrencia y alianza de los sectores implicados con un propósito común, lo que se logra a través de la intersectorialidad. Sin embargo, la participación consciente de los directivos y líderes comunitarios estaría mediada por su empoderamiento intersectorial por la salud pública. Objetivo: Elaborar una perspectiva teórica operacional del empoderamiento intersectorial por la salud pública en directivos y líderes comunitarios. Métodos: Investigación de desarrollo tecnológico. Posterior a la consulta bibliográfica para el planteamiento teórico se establecieron diferentes conceptos y definiciones sobre el empoderamiento intersectorial por la salud pública y sus dimensiones, que fueron validadas en consulta a expertos, los criterios emitidos permitieron añadir, eliminar o modificar y llegar a la versión final. El procesamiento estadístico fue a través de la razón de validez e índice de validez de contenido, según el modelo de Lawshe modificado por Tristán. Resultados: Se lograron conceptos y definiciones claras, coherentes y relevantes cuyos índices de validez de contenido global y aceptable en cada aspecto coincidió en 0,84, 0,78 y 1,00, respectivamente. La perspectiva teórica global fue satisfactoria. Conclusiones: Se obtuvo una perspectiva teórica operacionalizada para el empoderamiento intersectorial como constructo integrado a partir de la cual se podrán delimitar elementos que posibiliten su diagnóstico en directivos y líderes de los sectores de la comunidad(AU)

Introduction: Public health is the expression of a complex set of factors in which elements of different kinds concur in close link with policies, sectors and economic and social actors. Therefore, the management of any process of health, well-being and quality of life requires the concurrence and alliance of the sectors involved with a common purpose, which is achieved through intersectorality. However, the conscious participation of community leaders and managers would be mediated by their intersectoral empowerment by public health. Objective: Develop an operational theoretical perspective of intersectoral empowerment by public health in community managers and leaders. Methods: Research of technological development. After the bibliographic consultation for the theoretical approach, different concepts and definitions were established on intersectoral empowerment by public health and its dimensions, which were validated in consultation with experts, the criteria issued allowed to add, eliminate or modify and reach the final version. Statistical processing was through the validity ratio and content validity index, according to the Lawshe model modified by Tristan. Results: Clear, coherent and relevant concepts and definitions were achieved, whose indexes of validity of global and acceptable content in each aspect coincided in 0.84, 0.78 and 1.00, respectively. The overall theoretical perspective was satisfactory. Conclusions: An operationalized theoretical perspective was obtained for intersectoral empowerment as an integrated construct from which elements that enable its diagnosis can be delimited in managers and leaders of the community sectors(AU)

Síndrome de Noonan asociado a mutación del gen SOS1, reporte de caso / Noonan syndrome associated with a mutation of the SOS1 gene, case report

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.

Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.

Acciones de superación profesoral en departamento de ciencias básicas. Facultad de Ciencias Médicas Dr. Ernesto Guevara de la Serna / Actions for the training of the teaching staff in the department of basic sciences at Dr. Ernesto Guevara de la Serna School of Medical Sciences

RESUMEN Introducción: el perfeccionamiento de la superación profesoral de un departamento docente en una institución universitaria, se debe medir por el mejoramiento de la calidad del proceso docente educativo e investigativo, por ello es importante el papel del mismo en el proceso de superación profesoral del claustro. Objetivo: proponer acciones que contribuyan al perfeccionamiento del proceso de superación profesoral de la Facultad de Ciencias Médicas "Dr. Ernesto Guevara de la Serna" en el curso 2019-2020. Métodos: se realizó estudio de tipo organizacional, se aplicaron métodos teóricos y empíricos. Se encuestaron nueve directivos. Técnicas: Lluvia de ideas, Diagrama de Ishikawa y Matriz DAFO. Las variables evaluadas fueron la categoría docente, científica e investigativa del claustro. Para el procesamiento de los datos se aplicó la estadística descriptiva y el análisis de los resultados a través de la frecuencia absoluta y relativa. Resultados: el 72 % de profesores se encontraron en las categorías de instructor o asistente. Escasa cantidad de doctores en ciencias y profesores titulares. Insuficiente número de profesores con categoría investigativa. Sobresalió la falta de organización entre la labor investigativa, profesional y docente, la insuficiente planificación de las figuras académicas en correspondencia con las necesidades del claustro y que no se toma en consideración la superación profesoral como expresión de ejemplaridad. Conclusiones: se identificaron los principales problemas que inciden en el proceso de superación profesoral, insuficiencias relativas a la organización, la evaluación y el control. Se elaboró una propuesta de acciones para perfeccionar el proceso de superación profesoral.

ABSTRACT Introduction: the training of the staff at a teaching department in a university should be measured by the improvement of the quality of the research and teaching-learning process; therefore the role of this department in the process of training the teaching staff of the School of Medical Sciences is important. Objective: to propose actions to contribute to the training of the teaching staff in the department of basic sciences at Dr. Ernesto Guevara de la Serna School of Medical Sciences during the academic year 2019-2020. Methods: an organizational-type study was carried out; theoretical and empirical methods were applied. Nine executives were surveyed. Techniques: Brainstorming, Ishikawa Diagram and SWOT Matrix. The variables evaluated were the teaching ranks, scientific and research categories of the staff. For data processing, descriptive statistics was applied and the results were analyzed by means of absolute and relative frequency. Results: professors were in the teaching ranks of instructor or assistant (72 %). The number of PhD and full professors is not enough. Professors in the research category are insufficient. Lack of organization involving research, professional and teaching work was identified, scarce planning of the academic figures in accordance with the needs of the teaching staff, and the fact that the training of professors is not taken into consideration as an expression of example. Conclusions: the main problems affecting the training of the teaching staff were identified, as well as insufficiencies related to the organization, evaluation and control, a proposal of actions to improve the process of training the teaching staff was made.

Propuesta de acciones de extensión universitaria dirigidas a gestantes vulnerables en Pinar del Río / Proposal of university extension actions aimed at vulnerable pregnant women in Pinar del Río

RESUMEN Introducción: la extensión universitaria es una de las funciones/misiones de la educación superior actual. Objetivo: diseñar un sistema de acciones de Extensión Universitaria dirigidas a la atención integral de las gestantes internadas en el hogar materno Justo Legón Padilla. Métodos: se realizó una investigación cualitativa en la Universidad de Ciencias Médicas de Pinar del Río, para elaborar una propuesta de acciones extensionistas dirigidas a la atención integral de las gestantes internadas en el hogar materno Justo Legón Padilla durante el 2018. Resultados: se constató que la extensión universitaria en la provincia de Pinar del Río no ha sido estudiada de forma específica para las gestantes de riesgo o vulnerables, por lo que se diseñaron acciones de promoción de salud para este grupo en una estructura de 17 actividades. Se vinculó un buen control del riesgo reproductivo preconcepcional con acciones de extensión universitaria. Conclusiones: se elaboró un sistema de acciones de Extensión Universitaria dirigidas a la atención integral de las gestantes internadas en el hogar materno Justo Legón Padilla, que permitió estimular el perfeccionamiento de los modos de actuación de los profesionales de la salud y una mejor calidad de vida del binomio madre-hijo.

ABSTRACT Introduction: university extension is one of the functions/missions of higher education today. Objective: to design a system of actions for University Extension intended for the comprehensive care of pregnant women admitted Justo Legon Padilla maternal-care home. Methods: a qualitative research was carried out at Pinar del Rio University of Medical Sciences to design a proposal of actions for university extension directed to the comprehensive care of pregnant women admitted Justo Legon Padilla maternal-care home during 2018. Results: it was verified university extension activities in Pinar del Río province has not considered a specific approach for pregnant women at risk or vulnerable, as a result health promotion actions were designed for this group in a structure of 17 activities, linking a good control of pre-conception reproductive risk for actions of university extension. Conclusions: a system of university extension activities was developed to provide comprehensive care for pregnant women admitted Justo Legon Padilla maternal-care home. This system made possible to encourage the development of the modes of action for healthcare professionals and a better quality of life for the mother and the child.

Atención integral a gestantes vulnerables en hogar materno provincial de Pinar del Río / Comprehensive care to vulnerable pregnant women in a provincial Maternity Waiting Home in Pinar del Río

RESUMEN Introducción: las embarazadas comparten una experiencia común de gran valor simbólico y social, poseen características que las singularizan, deben ser tenidas en cuenta por las políticas sociales y, en particular las políticas de salud con alcance intersectorial. Objetivo: caracterizar la atención integral a gestantes internadas en el hogar materno Justo Legón Padilla de Pinar del Río. Métodos: se realizó un estudio observacional descriptivo con las gestantes ingresadas en el hogar materno Justo Legón Padilla de Pinar del Río durante el 2018. El universo de estudio quedó constituido por las gestantes ingresadas (U=2 536), la muestra por criterio de autoridad y conveniencia, por las residentes en el municipio Pinar del Río (n=2 128). Resultados: el 90,5 % de las gestantes tenían entre 20 y 34 años, predominaron las de nivel educacional preuniversitario (52,7 %) y las casadas con 50 %. Tuvieron mayor representación las primigestas (50,1 %) y las vinculadas laboralmente (49,7 %). Según valoración nutricional primaron las normopeso con 50,1 % y el tabaquismo fue el hábito tóxico más frecuente para 8,9 %. Los principales motivos de ingreso fueron: riesgo de prematuridad 25,9 %, embarazo en la adolescencia 9,3 % y anemia 5,4 %. Conclusiones: las gestantes internadas en el hogar materno provincial de Pinar del Río se caracterizaron por poseer nivel educacional pre universitario, estado civil, casadas; primigestas y vinculadas laboralmente. Predominaron las normopeso y el tabaquismo como hábito tóxico de mayor frecuencia. El riesgo de prematuridad, embarazo en adolescentes y la anemia, fueron los principales motivos de ingreso.

ABSTRACT Introduction: pregnant women share a common experience of great value which are both symbolic and social, having characteristics that make them unique, and must be taken into account by the social policies as well, in particular, healthcare policies with an intersectoral scope. Objective: to characterize the comprehensive care given to pregnant women admitted to Justo Legon Padilla Maternity Waiting Home (MWH) in Pinar del Río. Methods: a descriptive observational study was conducted with pregnant women admitted to Justo Legon Padilla MWH in Pinar del Río during 2018. The target group studied comprised pregnant women admitted (U=2,536), the sample was taken by authority and convenience criteria, that included those living in Pinar del Rio municipality (n=2,128). Results: 90,5 % of pregnant women were between 20 and 34 years old, with a predominance of those with pre-university educational level (52,7 %) and those who were married (50 %). Primigravid women (50,1 %) and those who were working (49,7 %) were more significantly represented. According to the nutritional assessment, normal weight (50,1 %) prevailed and smoking habit was the most frequent (8,9 %). The main reasons for admission were: risk of prematurity (25,9 %), adolescent pregnancy 9,3 % and anemia 5,4 %. Conclusions: pregnant women admitted to the provincial maternity waiting home in Pinar del Río were characterized by having pre-university educational level, most of them were married and workers. Normal weight and smoking habit prevailed. The risk of prematurity, adolescent pregnancy and anemia were the main reasons for admission.

Disfunción Mioneural Periférica Como Único Elemento Para El Diagnostico De La Distrofia Miotónica Tipo I / Myoneural Disfunction For The Diagnosis Of Myotonic Dystrophy Type I

Resumen La distrofia miotónica tipo 1, también conocida como enfermedad de Steinert, es un trastorno mulsistémico que afecta principalmente al sistema músculo esquelético y liso, así como al ojo, corazón, sistema endócrino y sistema nervioso central. Esta patología es infrecuente y se caracteriza por miotonía generalizada y daño multiorgánico. Su expresión clínica es variable, pero en la mayoría de los casos se presenta un grado variable de debilidad muscular, arritmias cardiacas y otros trastornos de la conducción, alteraciones endócrinas, trastornos del sueño, cataratas y calvicie. Esta es una enfermedad hereditaria con tres fenotipos reconocibles: leve, clásico y congénito. Dependiendo de su presentación puede tener mal pronóstico y una progresión usualmente rápida, la misma que carece de un tratamiento efectivo. Presentación del caso: Paciente femenina de 54 años que ingresa al Servicio de Traumatología del Hospital San Vicente de Paul de Ibarra, Ecuador por presentar una fractura de fémur izquierdo resultante de una caída desde su silla de ruedas. Durante la hospitalización la paciente presenta insuficiencia respiratoria tipo II sin causa aparente por lo cual es ingresada a UCI para soporte ventilatorio. La paciente presenta dificultad para lograr el destete ventilatorio debido a la debilidad muscular distal y proximal. La electromiografía revela un patrón miopático compatible con el diagnóstico de distrofia miotónica tipo I. Se realiza traqueotomía y es dada de alta para seguimiento por el servicio de Medicina Interna. Se sugiere la realización de estudio molecular diagnóstico. Conclusiones: El estudio molecular es la opción diagnóstica indicada para determinar con certeza la presencia de la distrofia miotónica tipo I, además de permitir determinar su severidad dependiendo del número de repetidos. Sin embargo, las limitaciones de recursos en el presente caso forzaron a que se busquen evidencias para el diagnóstico a través de la electromiografía. Hasta le alta, el tratamiento sigue siendo sintomático. Debido a que su modo de herencia es autosómico dominante, por expansión de trinucléotidos, se debe buscar familiares que pueden encontrarse asintomáticos y podrían tener esta patología.

Abstract Myotonic dystrophy type 1, also known as Steinert's disease, is a mulsystemic disorder that primarily affects the skeletal and smooth muscle, as well as the eye, heart, endocrine system and central nervous system. This pathology is uncommon and is characterized by generalized myotonia and multiorgan damage. Its clinical expression is variable, but in most cases, there is a variable degree of muscle weakness, cardiac arrhythmias and other conduction disorders, endocrine disorders, sleep disorders, cataracts and baldness. This is a hereditary disease with three recognizable phenotypes: mild, classic and congenital. Depending on the presentation, it may show poor prognosis and a usually rapid progression, which lacks of effective treatment. Case presentation: 54-year-old female patient who enters the Traumatology service of San Vicente de Paul Hospital in Ibarra, Ecuador for presenting a left femur fracture resulting from a fall of her own height. During hospitalization, the patient presented with type II respiratory failure without apparent cause, so she was admitted to the ICU for ventilatory support. The patient had difficulty achieving ventilatory weaning due to distal and proximal muscle weakness. Electromyography reveals a myopathic pattern compatible with the diagnosis of myotonic dystrophy type I. A tracheotomy was performed, and she was discharged for follow-up by the Internal Medicine service. The performance of a molecular diagnostic study was suggested. Conclusions: The molecular study is the diagnostic gold standard to determine with certainty the presence of myotonic dystrophy type I, besides allowing to determine its severity depending on the number of repeated. However, resource limitations in the present case forced evidence to be sought for diagnosis through electromyography. The treatment remains symptomatic. Because of its inheritance pattern being autosomal dominant, due to the expansion of trinucleotides, family members must be evaluated because they may have the diagnosis even though asymptomatic.

Caracterización de la producción científica sobre la salud de los adolescentes en revistas médicas cubanas / Characterization of the investigations and the scientific production on adolescence in Cuban medical magazines

Introducción: La adolescencia es un periodo de desarrollo y crecimiento durante el cual las personas establecen su sentido de identidad individual, adaptación a capacidades intelectuales más maduras, a las exigencias de la sociedad en lo que respecta a la conducta, internalización de un sistema de valores personales y la preparación para roles de adultos. En este periodo acontecen transformaciones biológicas, psicológicas y sociales que requieren de atención especializada. Los resultados de la investigación científica que se traducen en producción científica pueden contribuir al perfeccionamiento de la atención integral a los adolescentes. Objetivo: Caracterizar el comportamiento de la producción científica relacionada con la adolescencia. Métodos: Se realizó un estudio descriptivo bibliométrico, se definieron las producciones científicas e investigaciones que abordan los principales problemas de salud de los adolescentes cubanos. Para el estudio se tomó el universo de la producción científica de la Revista Cubana de Salud Pública, Revista Cubana de Pediatría y Revista Cubana de Medicina Familiar en el periodo 2011-2015. Resultados: Se identificaron de forma armónica la correspondencia entre los principales problemas de salud de los adolescentes y las temáticas abordadas en las revistas seleccionadas. Conclusiones: La generalización de la comunicación científica favorece la solución de los principales problemas de salud identificados en los adolescentes cubanos(AU)

Introduction: The adolescence is a period of development and growth during which the persons establish its sense of individual identity, adaptation to more mature intellectual capacities, to the requirements of the society as for the conduct, internalization of a system of personal values and the preparation for adults' rolls. In this period there happen biological, psychological and social transformations that need of specializing attention. The results of the scientific investigation that are translated in scientific production can contribute to the improving of the integral attention to and the adolescents. Objective: To characterize the behavior of the scientific production related to the adolescence, bibliométricos realized a descriptive study, defining the scientific productions and investigations that tackle the main problems of health of and the Cuban adolescents. Methods: For the study there took the universe of the scientific production of the Cuban Magazine of Public health, Cuban Magazine of Paediatrics and Cuban Magazine of Familiar Medicine in the period 2011-2015. Results: The present investigation allowed to identify of harmonic form the mail between the main problems of health of and the adolescents and the subject-matters tackled in the chosen magazines. Conclusions: The generalization of the scientific communication favors the solution of the main problems of health identified in and the Cuban adolescents(AU)

Atención a la salud maternoinfantil en Cuba: logros y desafíos / Maternal and child health care in Cuba: achievements and challenges / Cuidados de saúde materno-infantil em Cuba: conquistas e desafios

RESUMEN En Cuba, la atención a la salud maternoinfantil se sustenta en la prioridad que le otorga el Estado, la ejecución del Programa Nacional de Atención Materno Infantil y la garantía de acceso equitativo a los servicios de salud. Este artículo describe la experiencia cubana en este campo, así como sus principales logros, desafíos y lecciones aprendidas. Entre los resultados más relevantes hasta el 2015 se encuentran la reducción de la mortalidad infantil y del menor de 5 años a 4,3 y 5,7 fallecidos por 1 000 nacidos vivos, respectivamente; supervivencia a los 5 años de 99,4%; más de 10 controles prenatales por parto; 5,3% de peso bajo al nacer; 99,9% de partos institucionales; y ser el primer país en validar la eliminación de la transmisión vertical del VIH y la sífilis congénita. Los principales desafíos son aumentar la tasa de lactancia materna exclusiva; reducir la anemia por déficit de hierro en niños y gestantes y el sobrepeso infantil; prevenir los accidentes; y reducir la mortalidad materna, la tasa de fecundidad en las adolescentes y el aborto voluntario. Entre las lecciones aprendidas se destacan la prioridad que el Estado otorga a la salud, la conducción programática de la atención maternoinfantil, la garantía de cobertura universal, la recolección sistemática de información para la toma de decisiones, la integración de los sectores y la participación social en la salud. Sostener y mejorar los resultados alcanzados contribuirá al cumplimiento de la Agenda de Desarrollo Sostenible para el 2030.

ABSTRACT In Cuba, maternal and child health care is based on the priority granted by the State, the implementation of the National Maternal and Child Health Program and the guarantee of equitable access to health services. This article describes the Cuban experience in this field, as well as its main achievements, challenges, and lessons learned. Among the most relevant results up to 2015 are the reduction of infant mortality rate and under-five mortality rate to 4.3 and 5.7 deaths per 1 000 live births, respectively; 5-year survival of 99.4%; more than 10 prenatal check-ups per delivery; 5.3% of low birth weight; 99.9% of institutional births; and being the first country to validate the elimination of mother-to-child transmission of HIV/AIDS and congenital syphilis. The main challenges are to increase the rate of exclusive breastfeeding; to reduce anemia due to iron deficiency in children and pregnant women; to reduce overweight in children; to prevent accidents; and to reduce maternal mortality, adolescent fertility rate, and voluntary abortion. Among the lessons learned are the priority given by the State to health, the programmatic management of maternal and child care, the guarantee of universal coverage, the systematic collection of information for decision-making, the integration of sectors and social participation in health. Sustaining and improving the results achieved will contribute to the fulfillment of the Sustainable Development Agenda for 2030.

RESUMO Em Cuba, os cuidados de saúde materno-infantil baseiam-se na prioridade concedida pelo Estado, na implementação do Programa Nacional de Saúde Materno-Infantil e na garantia de acesso equitativo aos serviços de saúde. Este artigo descreve a experiência cubana neste campo, bem como as principais conquistas, desafios e lições aprendidas. Entre os resultados mais relevantes até 2015 estão a redução da mortalidade infantil e mortalidade em menores de 5 anos para 4,3 e 5,7 mortes por 1 000 nascidos vivos, respectivamente; sobrevivência a 5 anos de 99,4%; mais de 10 exames pré-natal por nascimento; 5,3% do baixo peso ao nascer; 99,9% dos partos institucionais; e seja o primeiro país a validar a eliminação da transmissão materno-infantil de HIV/AIDS e sífilis congênita. Os principais desafios são aumentar a taxa de aleitamento materno exclusivo; reduzir a anemia devido a deficiência de ferro em crianças e mulheres grávidas e reduzir o excesso de peso infantil; prevenir acidentes; e reduzir a mortalidade materna, taxa de fertilidade adolescente e aborto voluntário. Entre as lições aprendidas estão a prioridade dada pelo Estado à saúde, a gestão programática dos cuidados materno e infantil, a garantia de cobertura universal, a coleta sistemática de informações para a tomada de decisões, a integração de setores e a participação social em saúde. Sustentar e melhorar os resultados obtidos contribuirá para o cumprimento da Agenda de Desenvolvimento Sustentável para 2030.

Early prognostic value of an Algorithm based on spectral Variables of Ventricular fibrillAtion from the EKG of patients with suddEn cardiac death: A multicentre observational study (AWAKE) / Valor pronóstico precoz de un algoritmo basado en variables espectrales de la fibrilación ventricular del ECG de pacientes con muerte súbita cardiaca: estudio observacional multicéntrico (AWAKE)

Abstract Objective: Ventricular fibrillation (VF)-related sudden cardiac death (SCD) is a leading cause of mortality and morbidity. Current biological and imaging parameters show significant limitations on predicting cerebral performance at hospital admission. The AWAKE study (NCT03248557) is a multicentre observational study to validate a model based on spectral ECG analysis to early predict cerebral performance and survival in resuscitated comatose survivors. Methods: Data from VF ECG tracings of patients resuscitated from SCD will be collected using an electronic Case Report Form. Patients can be either comatose (Glasgow Coma Scale GCS --- ≤8) survivors undergoing temperature control after return of spontaneous circulation (RoSC), or those who regain consciousness (GCS = 15) after RoSC; all admitted to Intensive Cardiac Care Units in 4 major university hospitals. VF tracings prior to the first direct current shock will be digitized and analyzed to derive spectral data and feed a predictive model to estimate favorable neurological performance (FNP). The results of the model will be compared to the actual prognosis. Results: The primary clinical outcome is FNP during hospitalization. Patients will be categorized into 4 subsets of neurological prognosis according to the risk score obtained from the predictive model. The secondary clinical outcomes are survival to hospital discharge, and FNP and survival after 6 months of follow-up. The model-derived categorisation will be also compared with clinical variables to assess model sensitivity, specificity, and accuracy. Conclusions: A model based on spectral analysis of VF tracings is a promising tool to obtain early prognostic data after SCD.

Resumen Objetivo: La muerte súbita (MS) por fibrilación ventricular (FV) es una importante causa de morbilidad y mortalidad. Los métodos biológicos y de imagen actuales muestran limitaciones para predecir el pronóstico cerebral al ingreso hospitalario. AWAKE es un estudio observacional, multicéntrico, con el objetivo de validar un modelo basado en el análisis espectral del elec- trocardiograma (ECG), que predice precozmente el pronóstico cerebral y la supervivencia en pacientes resucitados y en estado de coma. Métodos: Se recogerán datos de los ECG con FV de pacientes reanimados de MS. Los pacientes pueden ser tanto supervivientes en estado de coma (Glasgow Coma Scale GCS ≤ 8) sometidos a control de temperatura tras la recuperación de circulación espontánea (RCE), como aquellos que recuperan la consciencia (GCS = 15) tras RCE; todos ellos ingresados en unidades de terapia intensiva cardiológica de 4 hospitales de referencia. Los registros de FV previos al primer choque se digitalizarán y analizarán para obtener datos espectrales que se incluirán en un modelo predictivo que estime el pronóstico neurológico favorable (PNF). El resultado del modelo se comparará con el pronóstico real. Resultados: El objetivo principal es el PNF durante la hospitalización. Los pacientes se categorizarán en 4 subgrupos de pronóstico neurológico según la estimación de riesgo obtenida en el modelo predictivo. Los objetivos secundarios son supervivencia al alta hospitalaria, y PNF y supervivencia a los 6 meses. El resultado de este modelo también se comparará con el pronóstico según variables clínicas. Conclusiones: Un modelo basado en el análisis espectral de registros de FV es una herramienta prometedora para obtener datos pronósticos precoces tras MS por FV.