Mucopolysaccharidosis I, Hurler syndrome: A case report

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress. Key words: mucopolysaccharidosis, Hurler syndrome, MPS 1, Hurler, genetic disorder, enzymatic replacement therapy, ERT
Authors: Amorín, Milagros; Carlina, Andrea; Prötzel, Ana
Source: Sociedad Argentina de Pediatría (SAP)
URL: http://hdl.handle.net/10757/313689

Videogame "Pitanga Town" in the fight against dengue in Costa Rica

Sr. Editor. Una de las prioridades en salud pública a nivel global es el control de las enfermedades transmitidas por vectores, como el dengue, la malaria, la enfermedad de Chagas, la leishmaniasis, la bartonelosis, entre otras. El dengue es una enfermedad viral transmitida por la picadura de las especies del mosquito Aedes, cuya incidencia global se ha incrementado rápidamente en las últimas décadas, estimándose que causa alrededor de 230 millones de infecciones cada año, de los cuales 25 000 son mortales, localizándose principalmente en regiones tropicales y subtropicales (1). La región de las Américas, durante el año 2013, tuvo el mayor reporte histórico de casos, con más de 2,3 millones de casos notificados por los países.
Autores: Zamora, Antón; Galán Rodas, Edén; Ramírez, Eduardo; Rodríguez Morales, Alfonso J.; Mayta Tristán, Percy
Fuente: Revista Peruana de Medicina Experimental y Salud Pública
URL: http://hdl.handle.net/10757/558313

Association between Facebook Dependence and Poor Sleep Quality: A Study in a Sample of Undergraduate Students in Peru

Objectives: Internet can accelerate information exchange. Social networks are the most accessed especially Facebook. This kind of networks might create dependency with several negative consequences in people’s life. The aim of this study was to assess potential association between Facebook dependence and poor sleep quality. Methodology/Principal Findings: A cross sectional study was performed enrolling undergraduate students of the Universidad Peruana de Ciencias Aplicadas, Lima, Peru. The Internet Addiction Questionnaire, adapted to the Facebook case, and the Pittsburgh Sleep Quality Index, were used. A global score of 6 or greater was defined as the cutoff to determine poor sleep quality. Generalized linear model were used to determine prevalence ratios (PR) and 95% confidence intervals (95%CI). A total of 418 students were analyzed; of them, 322 (77.0%) were women, with a mean age of 20.1 (SD: 2.5) years. Facebook dependence was found in 8.6% (95% CI: 5.9%–11.3%), whereas poor sleep quality was present in 55.0% (95% CI: 50.2%–59.8%). A significant association between Facebook dependence and poor sleep quality mainly explained by daytime dysfunction was found (PR = 1.31; IC95%: 1.04–1.67) after adjusting for age, sex and years in the faculty. Conclusions: There is a relationship between Facebook dependence and poor quality of sleep. More than half of students reported poor sleep quality. Strategies to moderate the use of this social network and to improve sleep quality in this population are needed.
Authors: Wolniczak, Isabella; Caceres-Del Aguila, José Alonso; Palma-Ardiles, Gabriela; Arroyo, Karen J.; Solés-Visscher, Rodrigo; Paredes-Yauri, Stephania; Mego-Aquije, Karina; Bernabe Ortiz, Antonio
Source: PLoS ONE 

URL: http://hdl.handle.net/10757/313712

Psychiatric symptoms and insulinoma: a case report

Introduction:Insulinomas are pancreatic endocrine neoplasms with a low incidence between 1-4 cases per million per year. Case description: A female 49 years-old with neurological and psychiatric symptoms were treated for two years as a psychiatric patient. Presented a glucose value, which reflects hypoglycemia. The patient was operated with resolution of symptoms. Conclusion: Assess all patients with psychiatric symptoms and perform a complete medical history and laboratory findings, being the most opportune glucose. Key words: Insulinoma; hypoglycemia; psychiatry. Palabras clave: Insulinoma; hipoglicemia; psiquiátrico.
Authors: Colán T, Cristina; Gálvez G. , Andrea; Zevallos D., Carolina
Source: REV CHIL NEURO-PSIQUIAT
URL: http://hdl.handle.net/10757/311275

Contrast profiles of bullying in Peru and Spain

Dear editor: We read with greatinterestthe article Bullying among schoolchildren: differences between victims and aggressors, recently published in Gaceta Sanitaria.1 Motivated by this study, we would like to share information about the characteristics of victims and aggressors of bullying in Peru after an extensive literature search about this underexplored topic in our country and attempt some comparisons versus Spain as well as some concluding remarks and recomendations. Bullying in Peru, as very likely in Spain, is a hidden and yet latent phenomenon. Moreover, it varies across regions in our country and profiles might be different than what is found in Spain. In a study conducted in an urban Lima school in 2007, victims usually had fewer friends, spent more time alone at recess and exhibited decreased self-confidence than non-victims.2 Similarly, another study conducted in in 2009 found that adolescents with any physical defects are more prone to being bullied, being excluded by aggressors and experience discriminative behaviors that cause impaired social image of the victim and generate rivalries with peers.3 In Peruvian rural areas adolescent victims tend to be picked on by peers, be very quiet, fearful and considered small and weak and not to respond to attacks.
Authors: Leiva Montejo, Angela; León Amenero, Gustavo; Lister del Pino, Patricia; Segura, Eddy R
Source: Gaceta Sanit.aria
URL: http://hdl.handle.net/10757/311272