15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.

BACKGROUND: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient's clinical phenotype. CONCLUSIONS: This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.

Cesarean section rates in Ecuador: a 13-year comparative analysis between public and private health systems / Tasas de cesárea en Ecuador: análisis comparativo de 13 años entre el sistema de salud público y el privado

Objective. To demonstrate the prevalence of cesearean sections (C-sections) in Ecuador and their distribution between private and public health centers. Methods. An observational population-based study was conducted of patients discharged from public and private hospitals in Ecuador after a C-section or vaginal delivery. Data were collected by the Ecuadorian National Institute of Statistics and Census (INEC) between 2001 and 2013. Results. The overall national C-section rate in the private health care system is double the rate in the public health care system. Over the 13 years of the study, C-sections accounted for 57.5% of births in the private sector, while the public sector proportion did not exceed 22.3%. Countrywide, less than 36% of C-sections were found to be clinically justified by parallel analysis of absolute or relative indications. Acute fetal distress (AFD) was more frequently reported in private centers compared to public ones (446 per 10 000 live births versus 274 per 10 000). Since 2001, the number of births by cesarean section increased by more than 50% (R² = 0.7306, P < 0.05), with an annual growth rate of 4.03%. In Guayaquil, the largest city in Ecuador, up to 74% of live births occurred by C-section. Conclusion. National data show that C-sections are performed more frequently in Ecuador than the rate recommended by the World Health Organization, especially in the private health care system. Private centers also report higher rates of AFD, which implies that this diagnosis is either overused in private centers or underrecognized in public centers. Although several factors might be influencing these trends, no data are available to determine the relative importance of economics, practicality, and medical or personal concerns of mothers and physicians in deciding which method of delivery should be used.

Objetivo. Demostrar la prevalencia de las cesáreas en Ecuador y su distribución entre centros privados y públicos de salud. Métodos. Se realizó un estudio de observación basado en la población de pacientes dadas de alta de hospitales públicos y privados en Ecuador después de una cesárea o un parto vaginal. Los datos fueron recopilados por el Instituto Nacional de Estadísticas y Censo (INEC) de Ecuador entre el 2001 y el 2013. Resultados. La tasa nacional de cesáreas en el sistema privado de atención de salud es el doble de la tasa que se observa en el sistema público de salud. Durante los 13 años que duró el estudio, las cesáreas representaron 57,5% de los nacimientos en el sector privado, mientras que la proporción en el sector público no superó 22,3%. A nivel de todo el país, se observó que menos de 36% de las cesáreas estaban clínicamente justificadas con un análisis paralelo de indicaciones absolutas o relativas. Se notificaron casos de sufrimiento fetal agudo con mayor frecuencia en los centros privados comparados con los públicos (446 por 10 000 nacidos vivos frente a 274 por 10 000 n.v.). Desde el 2001, el número de nacimientos por cesárea aumentó más de 50% (R ² = 0,7306, P < 0,05), con una tasa de crecimiento anual de 4,03%. En Guayaquil, la ciudad más grande de Ecuador, hasta 74% de los nacidos vivos nacieron por cesárea. Conclusiones. Los datos nacionales muestran que las cesáreas se realizan en Ecuador con una frecuencia mayor a la tasa recomendada por la Organización Mundial de la Salud, especialmente en el sistema privado de atención de salud. Los centros privados también notifican tasas más altas de sufrimiento fetal agudo, lo que implica que este diagnóstico se utiliza excesivamente en los centros privados o no se lo reconoce suficientemente en los centros públicos. Aunque varios factores podrían estar influyendo sobre estas tendencias, no se tienen datos para determinar la importancia relativa de los factores económicos, la practicidad y las inquietudes médicas o personales de las madres y los médicos al decidir el método de parto.

Cesarean section rates in Ecuador: a 13-year comparative analysis between public and private health systems.

OBJECTIVE: To demonstrate the prevalence of cesearean sections (C-sections) in Ecuador and their distribution between private and public health centers. METHODS: An observational population-based study was conducted of patients discharged from public and private hospitals in Ecuador after a C-section or vaginal delivery. Data were collected by the Ecuadorian National Institute of Statistics and Census (INEC) between 2001 and 2013. RESULTS: The overall national C-section rate in the private health care system is double the rate in the public health care system. Over the 13 years of the study, C-sections accounted for 57.5% of births in the private sector, while the public sector proportion did not exceed 22.3%. Countrywide, less than 36% of C-sections were found to be clinically justified by parallel analysis of absolute or relative indications. Acute fetal distress (AFD) was more frequently reported in private centers compared to public ones (446 per 10 000 live births versus 274 per 10 000). Since 2001, the number of births by cesarean section increased by more than 50% (R2 = 0.7306, P < 0.05), with an annual growth rate of 4.03%. In Guayaquil, the largest city in Ecuador, up to 74% of live births occurred by C-section. CONCLUSION: National data show that C-sections are performed more frequently in Ecuador than the rate recommended by the World Health Organization, especially in the private health care system. Private centers also report higher rates of AFD, which implies that this diagnosis is either overused in private centers or underrecognized in public centers. Although several factors might be influencing these trends, no data are available to determine the relative importance of economics, practicality, and medical or personal concerns of mothers and physicians in deciding which method of delivery should be used.

OBJETIVO: Demostrar la prevalencia de las cesáreas en Ecuador y su distribución entre centros privados y públicos de salud. MÉTODOS: Se realizó un estudio de observación basado en la población de pacientes dadas de alta de hospitales públicos y privados en Ecuador después de una cesárea o un parto vaginal. Los datos fueron recopilados por el Instituto Nacional de Estadísticas y Censo (INEC) de Ecuador entre el 2001 y el 2013. RESULTADOS: La tasa nacional de cesáreas en el sistema privado de atención de salud es el doble de la tasa que se observa en el sistema público de salud. Durante los 13 años que duró el estudio, las cesáreas representaron 57,5% de los nacimientos en el sector privado, mientras que la proporción en el sector público no superó 22,3%. A nivel de todo el país, se observó que menos de 36% de las cesáreas estaban clínicamente justificadas con un análisis paralelo de indicaciones absolutas o relativas. Se notificaron casos de sufrimiento fetal agudo con mayor frecuencia en los centros privados comparados con los públicos (446 por 10 000 nacidos vivos frente a 274 por 10 000 n.v.). Desde el 2001, el número de nacimientos por cesárea aumentó más de 50% (R2 = 0,7306, P < 0,05), con una tasa de crecimiento anual de 4,03%. En Guayaquil, la ciudad más grande de Ecuador, hasta 74% de los nacidos vivos nacieron por cesárea. CONCLUSIONES: Los datos nacionales muestran que las cesáreas se realizan en Ecuador con una frecuencia mayor a la tasa recomendada por la Organización Mundial de la Salud, especialmente en el sistema privado de atención de salud. Los centros privados también notifican tasas más altas de sufrimiento fetal agudo, lo que implica que este diagnóstico se utiliza excesivamente en los centros privados o no se lo reconoce sufi- cientemente en los centros públicos. Aunque varios factores podrían estar influyendo sobre estas tendencias, no se tienen datos para determinar la importancia relativa de los factores económicos, la practicidad y las inquietudes médicas o personales de las madres y los médicos al decidir el método de parto.

Cesarean section rates in Ecuador: a 13-year comparative analysis between public and private health systems / Tasas de cesárea en Ecuador: análisis comparativo de 13 años entre el sistema de salud público y el privado

ABSTRACT Objective To demonstrate the prevalence of cesearean sections (C-sections) in Ecuador and their distribution between private and public health centers. Methods An observational population-based study was conducted of patients discharged from public and private hospitals in Ecuador after a C-section or vaginal delivery. Data were collected by the Ecuadorian National Institute of Statistics and Census (INEC) between 2001 and 2013. Results The overall national C-section rate in the private health care system is double the rate in the public health care system. Over the 13 years of the study, C-sections accounted for 57.5% of births in the private sector, while the public sector proportion did not exceed 22.3%. Countrywide, less than 36% of C-sections were found to be clinically justified by parallel analysis of absolute or relative indications. Acute fetal distress (AFD) was more frequently reported in private centers compared to public ones (446 per 10 000 live births versus 274 per 10 000). Since 2001, the number of births by cesarean section increased by more than 50% (R² = 0.7306, P < 0.05), with an annual growth rate of 4.03%. In Guayaquil, the largest city in Ecuador, up to 74% of live births occurred by C-section. Conclusion National data show that C-sections are performed more frequently in Ecuador than the rate recommended by the World Health Organization, especially in the private health care system. Private centers also report higher rates of AFD, which implies that this diagnosis is either overused in private centers or underrecognized in public centers. Although several factors might be influencing these trends, no data are available to determine the relative importance of economics, practicality, and medical or personal concerns of mothers and physicians in deciding which method of delivery should be used.

RESUMEN Objetivo Demostrar la prevalencia de las cesáreas en Ecuador y su distribución entre centros privados y públicos de salud. Métodos Se realizó un estudio de observación basado en la población de pacientes dadas de alta de hospitales públicos y privados en Ecuador después de una cesárea o un parto vaginal. Los datos fueron recopilados por el Instituto Nacional de Estadísticas y Censo (INEC) de Ecuador entre el 2001 y el 2013. Resultados La tasa nacional de cesáreas en el sistema privado de atención de salud es el doble de la tasa que se observa en el sistema público de salud. Durante los 13 años que duró el estudio, las cesáreas representaron 57,5% de los nacimientos en el sector privado, mientras que la proporción en el sector público no superó 22,3%. A nivel de todo el país, se observó que menos de 36% de las cesáreas estaban clínicamente justificadas con un análisis paralelo de indicaciones absolutas o relativas. Se notificaron casos de sufrimiento fetal agudo con mayor frecuencia en los centros privados comparados con los públicos (446 por 10 000 nacidos vivos frente a 274 por 10 000 n.v.). Desde el 2001, el número de nacimientos por cesárea aumentó más de 50% (R ² = 0,7306, P < 0,05), con una tasa de crecimiento anual de 4,03%. En Guayaquil, la ciudad más grande de Ecuador, hasta 74% de los nacidos vivos nacieron por cesárea. Conclusiones Los datos nacionales muestran que las cesáreas se realizan en Ecuador con una frecuencia mayor a la tasa recomendada por la Organización Mundial de la Salud, especialmente en el sistema privado de atención de salud. Los centros privados también notifican tasas más altas de sufrimiento fetal agudo, lo que implica que este diagnóstico se utiliza excesivamente en los centros privados o no se lo reconoce suficientemente en los centros públicos. Aunque varios factores podrían estar influyendo sobre estas tendencias, no se tienen datos para determinar la importancia relativa de los factores económicos, la practicidad y las inquietudes médicas o personales de las madres y los médicos al decidir el método de parto.

A population-based study of the epidemiology of acute adult burns in Ecuador from 2005 to 2014.

OBJECTIVES: To describe the demographic, risk factor, occupational, and morbidity and mortality characteristics of burns in adults in Ecuador using national data. These data are from the only specialized public hospital in Ecuador that has a 12-bed burn unit. METHODS: The National Institute of Statistics and Census provided data from the burn unit of the Hospital Eugenio Espejo, in Quito. Three different datasets pertaining to burn deaths, burn unit inpatient admissions, and hospital discharge were analyzed. Patients who died or were discharged before entering the burn unit were not included in this analysis. RESULTS: During the 10-year period, 1106 patients were admitted to the burn unit, men represent 69.37% with 768 cases and women represent 30.62% with 337 patients; the number of patients per year was on average 123 cases; the average age was 33-34 years old, with a range between 16 and 96 years old. Heat (thermal) burns represent 65.78% followed by electrical with 30.53%, friction burns with 2.06%, and chemical burns with 1.62%. Domestic methane gas was the most frequent agent causing thermal burns and the most affected occupational groups are construction workers and people who stay at home. The overall mortality is 10.2% and the average length of stay was 23 days. CONCLUSIONS: Thermal burns are more frequent than any other cause of burns. Electrical burns are more frequent in Ecuador than anywhere else according to our research, meaning that control and prevention of workplace safety, urban planning, and home safety are scarce. The most affected groups are those dedicated to labor work. Finally, mortality in hospitalized patient is higher when compared with developed countries.