Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder that causes defects in the adrenal cortex enzymes that impair the biosynthesis of cortisol, aldosterone, or both. The most common type is the 21-hydroxylase enzyme deficiency in approximately 95% of cases resulting from CYP21A2 gene mutations or deletions. OBJECTIVES: This study aimed to systematically review the national differences in CAH incidence and analyze the pooled results to determine disparities and whether ethnicity can predispose people to develop CAH. METHODS: PubMed, Scopus, and LILACS were used to achieve results until June 22, 2018. Study eligibility criteria included availability of full-text; English, Spanish, or Portuguese languages; incidence or number of new cases; and number of live births or sample population. Only the classic CAH type (salt-wasting and simple-virilizing) was considered, and no distinction was made between the enzyme deficiency types. RESULTS: This study summarizes the findings of 58 studies and 31 countries (from 1969 to 2017), in which the overall CAH incidence was 1:9,498 (95% confidence interval: 1:9,089, 1:9,945). Countries from the Eastern Mediterranean and Southeast Asia revealed the highest CAH incidence. The lowest incidence was reported in countries of the Western Pacific of Asia. No remarkable difference was observed in the Hispanics/Latino and White groups. However, they manifested a higher incidence of CAH than people identified as Black or of African descent. Published studies on CAH incidence in the sub-Saharan African region and parts of Europe were insufficient. CONCLUSIONS: This study highlights the at-risk population for CAH and regions that need monitoring for CAH. The highest CAH incidence could be attributed to higher consanguinity, less genetic diversity, or other genetic causes since CAH is an inherited genetic disorder. Cultural practices in some places regarding consanguineous unions or geographic isolation may directly affect the incidence. Newborn screening for CAH may be unavailable in many developing countries, thereby affecting the actual CAH incidence. Therefore, healthcare workers should be trained to recognize CAH at an early stage to reduce its complications and mortality.

Valor de la Escala de Rockall en la predicción de la mortalidad de la Hemorragia digestiva alta / Value of the Rockall score in predicting mortality from Upper gastrointestinal bleeding

Introducción: La hemorragia digestiva alta (HDA) presenta una incidencia mundial entre 50 y 140 pacientes por cada 100 000 habitantes al año; la mortalidad varía de un país a otro, pero en Cuba en las últimas décadas oscila entre 4 y 10 por ciento en los de origen no varicoso y alcanza 30 por ciento en los casos asociados a hipertensión portal. Objetivo: Evaluar la utilidad de la Escala de Rockall en la estratificación del riesgo de mortalidad en pacientes con sangrado digestivo alto. Material y Métodos: Se realizó un estudio longitudinal y prospectivo en los pacientes que ingresaron en el Hospital Militar Central Dr. Carlos J. Finlay con diagnóstico de sangrado digestivo alto durante el período comprendido entre noviembre de 2012 y marzo de 2016, a quienes se les aplicó la Escala de Rockall para determinar la capacidad predictiva de la misma con la mortalidad. Resultados: Se estudiaron 394 enfermos de los cuales fallecieron 48 (12,19 por ciento), al estratificar los pacientes en grupos de riesgo según la Escala de Rockall se encontró que la mayor cantidad pertenecía al grupo de alto riesgo donde se encontraban todos los fallecidos del estudio. Al aplicar la curva de COR (Característica Operativa del Receptor) se obtuvo un área bajo la curva de 0,888 lo cual constituye una buena habilidad predictiva para mortalidad. Conclusiones: la Escala de Rockall es útil para predecir la mortalidad en la evolución de enfermos con SDA(AU)

Introduction: Upper gastrointestinal bleeding (UGB) has a worldwide incidence between 50 and 140 patients for every 100 000 inhabitants a year; the mortality varies from a country to another, but during the last decades in Cuba, it fluctuates between 4 and 10 percent in those of non-varicose origin and reaches 30 pèrcent in cases associated with portal hypertension. Objective: To evaluate the utility of the Rockall score in the risk stratification for mortality in patients with upper gastrointestinal bleeding. Material and Methods: A longitudinal prospective study was conducted in patients that came to Dr. Carlos J. Finlay Central Military Hospital with the diagnosis of upper gastrointestinal bleeding from November 2012 to March 2016, to whom the Rockall score was applied to determine its predictive capacity of estimating mortality. Results: 394 patients were studied; 48 of them died (12,19 percent). When stratifying the patients in risk groups according to Rockall score it was found that the greatest quantity belonged to the high risk group, which also included all the deceased during the study period. When applying the Receiver Operating Characteristic Curve (ROC) an area under the curve of 0,888 was obtained, which constitutes a good predictive ability for mortality. Conclusions: The Rockall score can be used to predict mortality in upper gastrointestinal bleeding during the evolution of patients suffering from it(AU)