Objective: To examine the relationship between high altitude and microtia in Ecuador. Methods: We evaluated the epidemiological issues of 1298 cases of microtia reported in Ecuador from 2001 to 2007. It used data arising from the Vital Statistics National Reports: Annual Survey of Admissions and Discharges in this 7 year period. The register is national and population based, run and funded by the government. Results: It reported a total of 1298 cases of microtia out of 34654 cases of congenital malformations described in the registries. The overall prevalence was 2.38/10000 admissions/discharges calculated out of 5462263 admissions. An overall percentage (of 90.22%) were admitted before 19 years of age with the most prevalent group between 5 to 9 years of age (31.90%). There was progressive increase of cases every year; from 132 cases in 2001 to 304 in 2007. Total male cases in this study were 723 (55.70%) and female cases were 575 (44.30%). Tungurahua reported the highest prevalence of 18.31/10000 births, followed by Chimborazo, Azuay, Pichincha and Cotopaxi; all of them located over 2500 meters above sea level. It found that highest prevalence was 10.21 over 2700 meters above sea level followed by 8.28 over 2800 meters above sea level; with both having a cumulative prevalence of 8.81. Conclusion: There is a higher prevalence of microtia in patients living above 2500 meters above sea level. This study was not able to establish a clear relationship between microtia and different ethnic groups.

IntroductionPolymelia, or congenital duplication of a limb, is an extremely rare entity in humans, with few cases reported in the literature.Case presentationWe present the case of a six-month-old Hispanic boy born with a lower limb bud on the left posterior thigh.ConclusionThe infant had a favorable outcome and evolution after surgical treatment of his supernumerary limb, with no after-effects or impairment whatsoever.

Background There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru). Methods Data were collected from physicians/specialists experienced in treating MPS patients between April–June 2020, via an online patient-diary survey. Results Overall, 29 physicians/specialists participated in this study. Data from 98 patients were analyzed (MPS-IVA, 71 patients and MPS-VI, 27 patients). Mean age for MPS-IVA patients was 17.5 years and for MPS-VI patients was 11.6 years, and the majority were females (52% and 78%, respectively). MPS-IVA and VI patients presented a high absenteeism from school (55% and 37%, respectively; <18 years age) and workplace (78% and 100%, respectively; >18 years age), indicating an impact of the disease on some aspects of the patients' quality of life. The onset of the first symptom occurred at the age of 3.1 years for MPS-IVA patients and at 1 year for MPS-VI, with delay in diagnosis (3.5–3.9 years from symptom onset) and enzyme replacement therapy (ERT) initiation (1.1–3.6 years from diagnosis). ERT interruptions were observed for MPS-IVA (48%) and MPS-VI patients (44%), with non-availability of medication recorded as the main reason for non-adherence (46% and 60% patients, respectively). ERT showed noticeable treatment benefits in MPS-IVA/VI patients, with stabilization/reduction in complications or the number of surgeries. A multidisciplinary clinical team approach was used for patient management. Conclusion The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

ResumenLa presente investigación busca implementar la técnica reacción en cadena de la polimerasa (PCR) simple para identificar virus de hepatitis B (VHB). Gracias a su alta sensibilidad y especificidad, la PCR puede amplificar una región específica del genoma del virus cientos de veces a partir de muy poco ADN inicial y, de esta forma, visualizarlo por medio de bandas electroforéticas en geles de agarosa. Se tomaron muestras sanguíneas de 26 pacientes y 9 voluntarios en la Ciudad de Quito. En todas las muestras de estos pacientes, además de las pruebas de PCR se realizaron también pruebas de antígeno de superficie y antígeno de envoltura del virus por ELISA como medio de diagnóstico de hepatitis B.Durante el desarrollo de la investigación se evidenció que de los 26 pacientes, el 100 % resultaron positivos para hepatitis B, el 100 % resultó positivo a la prueba de ELISA para antígeno de superficie, el 69% resultó positivo para antígeno e (HBeAg), el 100% resultó positivo en PCR, presentando una banda de 447pb en gel de agarosa al 2%, valor predictivo positivo 1, valor predictivo negativo 1, sensibilidad 100% y especificidad 100%.En base a las observaciones realizadas y las pruebas desarrolladas se evidenció que el uso del PCR para el diagnóstico de hepatitis B es una alternativa válida en casos específicos de pacientes en quienes no se puede descartar por completo la presencia del virus por otro tipo de pruebas como el ELISA. Palabras clave: Reacción de Cadena de la Polimerasa (PCR), Antígeno de Superficie (HBsAg), Antígeno de envoltura (HBeAg), Virus de Hepatitis B (VHB). AbstractAt this study, we attempted to use simple polymerase chain reaction (PCR) to detect hepatitis B virus (HBV) in human blood samples.PCR is a sensitive and specific test for amplifying a sequence of HBV DNA hundreds of times from a small quantity of initial DNA. This test can allow us to visualize DNA in a 2% agarose gel electrophoresis. Samples were collected from 26 patients infected with HBV confirmed by ELISA test to detect antibodies to hepatitis B surface antigen (HBsAg) and e-antigen (HBeAg) and, from 9 volunteers. Results: among 26 patients HBV+, 100% patients were considered positive for surface antigen (HBsAg), 69% were considered positive for e-antigen (HBeAg), and 100%were positive for PCR, showing 447bp bands in agarose gel (2%), Sensibility 100%, Specificity 100%.Conclusion: PCR is a very good alternative to be used in very specific cases such as patients in whom there is uncertainty about the presence of the hepatits virus after doing others test like ELISA.Key words: Polymerase Chain Reaction (PCR), Antigen Surface (HBsAg), e-Antigen (HBeAg), and Hepatitis B Virus (HBV). Recibido: Mayo 2012Aprobado: Julio 2012 24Validación de PCR para el diagnóstico de Hepatitis B. IntroducciónDe acuerdo a cifras proporcionadas por el Ministerio de Salud Pública del Ecuador (1) 3.658 personas fueron infectadas por el virus hepatitis B desde el año 1996 al 2005. Dentro de este grupo de pacientes hubo algunos que presentaron infecciones de ...

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