Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez / Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico

Resumen Objetivo: Determinar la prevalencia y espectro de las enfermedades que predisponen la muerte súbita cardiaca en niños mexicanos e identificar los principales signos y síntomas tempranos que pueden permitir al personal de salud sospechar acerca de estas enfermedades y referir a los pacientes a un hospital de tercer nivel de manera temprana. Métodos: La incidencia, prevalencia y prevalencia de periodo, así como los primeros síntomas, los datos clínicos y el seguimiento, se describen en todos los niños con enfermedades que predisponen a la muerte súbita cardiaca en el Hospital Infantil de México. Resultados: Cincuenta y nueve pacientes de 8 ± 5 años, 40 con miocardiopatías y 19 con enfermedades arritmogénicas hereditarias. La prevalencia del periodo fue de 9.5/1,000 pacientes/año. Los primeros síntomas más comunes fueron disnea, palpitaciones y síncope. En 9 casos se encontró un patrón de herencia mendeliana. Tres pacientes fallecieron de muerte súbita cardiaca durante el periodo de estudio. Conclusión: Las enfermedades que predisponen a la muerte súbita cardiaca en los niños no son muy conocidas por la comunidad médica y general. Todo niño con disnea, palpitaciones y/o síncope debe referirse para la búsqueda intensiva de estas enfermedades. Una evaluación cardiológica completa en todos los miembros de la familia está indicada.

Abstract Objective: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. Methods: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. Results: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. Conclusion: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

[Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico]. / Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez.

OBJECTIVE: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. METHODS: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. RESULTS: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. CONCLUSION: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

Arco aórtico derecho con subclavia izquierda aberrante y divertículo de Kommerell. Una causa de anillo vascular / Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring

Resumen: El arco aórtico derecho puede estar asociado a subclavia izquierda aberrante, en algunos casos esta se origina de una dilatación aneurismática que se conoce como divertículo de Kommerell. Se presentan 2 casos de anillo vascular formado por un arco aórtico derecho, subclavia izquierda anómala con divertículo de Kommerell y persistencia del conducto arterioso izquierdo con una revisión de la literatura acerca del desarrollo embriológico y los métodos de imagen que ayudan al diagnóstico de esta rara anomalía vascular.

Abstract: The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly.

[Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring]. / Arco aórtico derecho con subclavia izquierda aberrante y divertículo de Kommerell. Una causa de anillo vascular.

The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly.

Selection and validation of candidate reference genes for quantitative real-time PCR studies in the shrimp Penaeus vannamei under viral infection.

The decapod Penstyldensovirus 1 (PstDV-1) represents one of the most serious threats for penaeid shrimp farming. Studies aimed at defining relevant molecular effects of this virus over its host are imperative in the attempt to increase our understanding of its pathogenesis. Unfortunately, few studies have focused on the definition of the expression profile of reference genes in shrimp challenged with a pathogen. As a result, there are no studies on the selection of reference genes for the normalization of target gene expression changes yielding reliable data of the effects following PstDV-1 infection in shrimp. Therefore, the aim of the present study was to evaluate and validate the appropriateness of four candidate reference genes (ef1-α, gapdh, rpl8 and ß-tubulin) for their use as reference genes to normalize qPCR data in gene expression studies of PstDV-1-shrimp interactions. By analyzing the expression profile of those genes, gapdh was validated as a suitable reference gene to normalize expression data gathered from a PstDV1-challenge, while ef1-α, ß-tubulin, and rpl8 were identified as unstably expressed during the infectious process. The suitability of gapdh as a common reference gene in studies of host gene response to viral infections is underlined.

Radon exposure and oropharyngeal cancer risk.

Oropharyngeal cancer is a multifactorial disease. Alcohol and tobacco are the main risk factors. Radon is a human carcinogen linked to lung cancer risk, but its influence in other cancers is not well known. We aim to assess the effect of radon exposure on the risk of oral and pharyngeal cancer through a systematic review of the scientific literature. This review performs a qualitative analysis of the available studies. 13 cohort studies were included, most of them mortality studies, which analysed the relationship between occupational or residential radon exposure with oropharyngeal cancer mortality or incidence. Most of the included studies found no association between radon exposure and oral and pharyngeal cancer. This lack of effect was observed in miners studies and in general population studies. Further research is necessary to quantify if this association really exists and its magnitude, specially performing studies in general population, preferably living in areas with high radon levels.

Persistencia del quinto arco aórtico asociado a persistencia del conducto arterioso / Persistent fifth aortic arch with patent ductus arteriosus

La persistencia del quinto arco aórtico es una rara anomalía congénita vascular que consiste en la presencia de una comunicación entre la aorta ascendente y la aorta descendente a través de un conducto arterial; se diagnostica de manera incidental. Informamos de un caso asociado a persistencia de conducto arterioso.

Persistent fifth aortic arch is a rare congenital vascular anomaly, with no clinical impact, so diagnosis is usually an incidental finding ocasionally associated with other congenital heart defects. We report a case of persistent fifth aortic arch associated with patent ductus arteriosus.

[Persistent fifth aortic arch with patent ductus arteriosus]. / Persistencia del quinto arco aórtico asociado a persistencia del conducto arterioso.

Persistent fifth aortic arch is a rare congenital vascular anomaly, with no clinical impact, so diagnosis is usually an incidental finding occasionally associated with other congenital heart defects. We report a case of persistent fifth aortic arch associated with patent ductus arteriosus.

Early Signs of Atherogenesis in Adolescents in a Havana Family Medicine Catchment Area.

INTRODUCTION Atherosclerosis is the common underlying cause of cardiovascular diseases; the leading cause of morbidity and mortality globally. It is a major contributor to disability and poorer quality of life and is costly to health systems, individuals, families and society. Early signs of atherogenesis are manifestations of atherosclerosis and known atherogenic risk factors occurring at young ages and detectable by health professionals. Early detection of such signs in children and adolescents enables actions to prevent short- and long-term complications. OBJECTIVE Detect early signs of atherogenesis in adolescents in Family Doctor-and-Nurse Office No. 13 of the Raúl Gómez García Polyclinic in Havana's 10 de Octubre Municipality. METHODS An observational, cross-sectional descriptive study was conducted: the universe consisted of 110 adolescents and, once exclusion criteria were applied, the sample was made up of 96 adolescents in the office's geographical catchment area. Variables included sociodemographic data; measurements from physical and anthropometric examinations (weight, height, body mass index, waist circumference, blood pressure, presence of acanthosis nigricans); maternal history of diabetes mellitus and hypertension, smoking during pregnancy; birth weight and duration of exclusive breastfeeding; lifestyle (physical activity, dietary habits by frequency of consumption of fruits and vegetables, salt intake, and smoking); and a history of atherogenic risk factors and atherosclerotic diseases (hypertension, diabetes mellitus, heart disease, cerebrovascular disease, peripheral arterial disease and chronic kidney disease) in adolescents and their families. The number of early signs of atherogenesis was determined. Descriptive statistics and a chi-square test, with significance threshold set at p = 0.05, were used to examine differences by sex and age. RESULTS A total of 62.5% of participating adolescents were female and the same percent of the total were in early adolescence. Prevalent risk factors were poor dietary habits (81.3%), passive smoking (54.2%) and sedentary lifestyle (45.8%). The latter was more frequent among female and adolescents aged 10-14 years. Prehypertension and active smoking were prevalent during late adolescence. Hypertension was the disease most often found in family history (91.7%). All adolescents had at least one early sign of atherogenesis, and 72.9% had ≥3 signs, noted especially in female participants. CONCLUSIONS The high prevalence of ≥3 early signs of atherogenesis in this study suggests the need to initiate primary prevention before onset of adolescence, and even prior to birth, using a gender perspective, to conduct educational interventions designed to change the risk factors highlighted in the study and reduce cardiovascular risk in adolescents. KEYWORDS Adolescents, adolescent health, atherosclerosis, atherogenesis, arterial occlusive diseases, early detection of disease, risk factors, Cuba.

Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

BACKGROUND: Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. METHODS: The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. RESULTS: From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. CONCLUSIONS: In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies.

Factores predictivos de la colitis ulcerativa en pediatría y sus carácterísticas clínicas, endoscópicas e histológicas / Predictors of ulcerative colitis in children and their clinical, endoscopic and histological characteristics

Introducción:La colitis ulcerativa (CU), es un trastorno inflamatorio difuso que afecta el recto y se extiende en dirección proximal y continua. Objetivo:Identificar los factores predictivos de laCUen pacientes pediátricos y describir el grado de actividad clínica, endoscópica e histológica, y las manifestaciones extraintestinales más frecuentes. Materiales y métodos:Estudio de casos y controles. La muestra quedó constituida por 66 pacientes, menores de 19 años, 22 casos con diagnóstico de CU y 44 controles de igual sexo y edad. Se diseñó y aplicó un cuestionario para recoger información acerca de los posibles factores predictivos asociados a la CU y se aplicó análisis de regresión logística multivariada. Conclusiones:Los factores predict ivos de la CU y las manifestaciones extraintestinales encontradas en el estudio son consistentes con lo reportado en la literatura.

Objective:To identify the predictive factors of Ulcerative Colitis (UC) in children, and to describe the clinical, endoscopical and histological activity index, and the extraintestinal manifestations founded in this patients. Methods:Case–control study. Cases were UC patients aged 0 – 19 years (22) and 44 healthy age – and sex- matched, we designed and applied a questionnaire to collect the information about the possible predictive factors associated to the UC and we also applied a multi-variance logistic regression analysis.Conclusions: The predictive factors of the UC and the extraintestinal manifestations founded in this study were similar with the reported in the literature.

Cumplimiento del tratamiento para el asma bronquial por los pacientes de un área de salud / Fulfilment of the treatment of bronchial asthma by the patients at a health area

Se realizó un estudio para conocer el cumplimiento del tratamiento medicamentoso, las causas de no cumplimiento, así como los medicamentos más empleados y el grado de control de los síntomas del asma bronquial y aproximarnos a la calidad de la asistencia médica brindada a los pacientes asmáticos de un área de salud de Villa Clara. La mayoría de los pacientes no cumplían el tratamiento indicado. La causa más frecuente fue la despreocupación. Los pacientes tenían un mal control de los síntomas, y entre los medicamentos indicados predominaron los broncodilatadores inhalados para el tratamiento de los síntomas con pocos medicamentos eficaces para el tratamiento profiláctico y un pobre dominio de la técnica inhalatoria. El mal control de los síntomas no creemos se deba al incumplimiento del tratamiento, sino a deficiencias en la calidad de la prescripción