Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher

Guidelines for diagnosis and treatment of Gaucher Disease

La enfermedad de Gaucher (EG), debe su nombre por haber sido descrita por Phillipe Gaucher en 1882. Es la enfermedad más frecuente del grupo de las enfermedades de depósito lisosomal comprendidas dentro de los errores innatos del metabolismo (1). La enfermedad de Gaucher se debe a mutaciones en el gen responsable de la síntesis de la enzima lisosomal b-glucocerebrosidasa ácida, también llamada ß-Glucosidasa ácida, (o ß-GA), cuyos locus se ubica en 1q21, es decir en la banda uno de la región 2 del brazo largo del cromosoma 1. El patrón de herencia es autosómico recesivo, es decir que la mutación en éste gen debe darse en estado de homocigocia (2).

Autor(s): Colquicocha Murillo, Maria; Cucho Jurado, Janetliz; Eyzaguirre Zapata, Renee Mercedes; Manassero Morales, Gioconda;Moreno Larrea, Mariela del Carmen; Salas Arbizu, Katia Liliana; Torres Argandoña, Aimee Margarita; Vargas Castro, Jesús Olga
Fuente: Revista Médica Herediana (Rev Med Hered.)
URL:  http://hdl.handle.net/10757/559196

Impacto del fenómeno "El Niño" de 1997-1998 en la salud de la población peruana, riesgo potencial para el 2015

Impact of the "El Niño" phenomenon from 1997 to 1998 on the health of the peruvian population: Risk potencial for 2015

Sr. Editor. El National Oceanic and Atmospheric Administration de los Estados Unidos y el Servicio Nacional de Meteorología e Hidrología del Perú han comunicado que en el 2015 se presentará un nuevo fenómeno “El Niño” (El Niño Oscilación Sur-ENSO). Este fenómeno produce elevación de la temperatura ambiental y un incremento de las precipitaciones pluviales (1); ocasionando inundaciones y aluviones (“huaycos”) como consecuencias inmediatas y posteriormente alteración del ecosistema favoreciendo el incremento de la vegetación y la aparición de plagas de insectos y roedores.

Author(s): Suarez Ognio, Luis; Estela Ayamamani, David; Cáceres Mejía, Brenda; Gambirazio Carbajal, Carlos; Cabrera, Rufino
Source:  Revista Peruana de Medicina Experimental y Salud Pública (Rev Peru Med Exp Salud Publica (Rev Peru Med Exp Salud Publica)

URL: http://hdl.handle.net/10757/559080

Adherence to HAART: multi-dimensional approach

Leímos con interés el artículo de Varela y cols.1 sobre depresión y adherencia a terapia anti-retroviral en Chile, tema importante en el éxito de la terapia. Quisiéramos comentar lo siguiente: en primer lugar, muchos estudios coinciden en que las enfermedades psiquiátricas son las co-morbilidades que afectan en mayor medida a la adherencia terapia anti-retroviral de gran actividad (TARGA) directa o indirectamente2. En forma directa porque es la enfermedad psiquiátrica más diagnosticada en pacientes con infección por VIH e indirectamente porque es producto de otros factores de riesgo como uso de alcohol y drogas, efectos secundarios de fármacos, falta de soporte social y familiar, actitudes y creencias del paciente acerca del tratamiento2. Asimismo, se ha visto que la depresión afecta la adherencia al tratamiento de enfermedades crónicas3, por lo que la hipótesis de la asociación de depresión en adherencia a TARGA es a nuestro parecer válida.

Author(s): Vadillo, Sandra; López, Rosalie; Moreno, Jacqueline
Source: Revista chilena de infectología (Rev. chil. infectol)

URL: http://hdl.handle.net/10757/559077

Association between depression and glycemic control among type 2 diabetes patients in Lima, Peru

Introduction: There is limited and controversial information regarding the potential impact of depression on glycemic control. This study aims to evaluate the association between depression and poor glycemic control. In addition, the prevalence of depression and rates of poor glycemic control were determined. Methods: Cross-sectional study performed in the endocrinology unit of two hospitals of ESSALUD in Peru. The outcome of interest was poor glycemic control, evaluated by glycated hemoglobin (HbA1c: < 7% versus ≥ 7%), whereas the exposure of interest was depression defined as 15 or more points in the Patient Health Questionnaire-9 tool. The association of interest was evaluated using Poisson regression models with robust standard errors reporting prevalence ratios (PR) and 95% confidence intervals (95% CI) adjusting for potential confounders. Results: A total of 277 participants, 184 (66.4%) males, mean age 59.0 (SD: 4.8), and 7.1 (SD: 6.8) years of disease were analyzed. Only 31 participants (11.2%; 95% CI: 7.5%–14.9%) had moderately severe or severe depression, whereas 70 (25.3%; 95% CI 20.3%–30.8%) had good glycemic control. Depression increased the probability of having poor glycemic control (PR = 1.32; 95% CI 1.15–1.51) after adjusting for several potential confounders. Conclusions: There is an association between depression and poor glycemic control among type 2 diabetes patients. Our results suggest that early detection of depression might be important to facilitate appropriate glycemic control and avoid further metabolic complications.

Author(s): Crispín Trebejo, Brenda; Robles Cuadros, María Cristina; Bernabé Ortiz, Antonio
Source: Asia-Pacific Psychiatry

URL: http://hdl.handle.net/10757/556689

Quantitative real-time polymerase chain reaction for enteropathogenic Escherichia coli: a tool for investigation of asymptomatic versus symptomatic infections

BACKGROUND: Enteropathogenic Escherichia coli (EPEC) strains are pediatric pathogens commonly isolated from both healthy and sick children with diarrhea in areas of endemicity. The aim of this study was to compare the bacterial load of EPEC isolated from stool samples from children with and without diarrhea to determine whether bacterial load might be a useful tool for further study of this phenomenon. METHODS: EPEC was detected by polymerase chain reaction (PCR) of colonies isolated on MacConkey plates from 53 diarrheal and 90 healthy children aged <2 years. DNA was isolated from stool samples by cetyltrimethylammonium bromide extraction. To standardize quantification by quantitative real-time PCR (qRT-PCR), the correlation between fluorescence threshold cycle and copy number of the intimin gene of EPEC E2348/69 was determined. RESULTS: The detection limit of qRT-PCR was 5 bacteria/mg stool. The geometric mean load in diarrhea was 299 bacteria/mg (95% confidence interval [CI], 77-1164 bacteria/mg), compared with 29 bacteria/mg (95% CI, 10-87 bacteria/mg) in control subjects (P = .016). Bacterial load was significantly higher in children with diarrhea than in control subjects among children <12 months of age (178 vs 5 bacteria/mg; P = .006) and among children with EPEC as the sole pathogen (463 vs 24 bacteria/mg; P = .006). CONCLUSIONS: EPEC load measured by qRT-PCR is higher in diarrheal than in healthy children. qRT-PCR may be useful to study the relationship between disease and colonization in settings of endemicity.

Author(s): Barletta, Francesca; Ochoa, Theresa J.; Mercado, Erik H.; Ruiz, Joaquim; Ecker, Lucie; Lopez, Giovanni; Mispireta, Monica;Gil, Ana I.; Lanata, Claudio F.; Cleary, Thomas G.
Source: Clinical Infectious Diseases (Clin Infect Dis)

URL: http://hdl.handle.net/10757/556075