RESUMEN
HLA-I/KIR genotypes influence HIV-1 disease progression and viral load, but their role in primary infection is uncertain. Inconsistent results from previous studies suggest that the inoculum size and transmission route-parenteral vs. sexual-may influence this association. We conducted a GWAS in a population of people living with HIV-1 and HIV-1-exposed seronegative individuals exposed to the virus through the sexual route. Our data do not support any role of the HLA/KIR system in susceptibility to sexually transmitted HIV-1 infection. The genetics basis of HIV-1 viral load and disease progression are distinct from the genetics of HIV resistance, a paradox worth exploring.
RESUMEN
BACKGROUND: Complement C4 gene copy number variation plays an important role as a determinant of genetic susceptibility to common diseases, such as systemic lupus erythematosus, schizophrenia, rheumatoid arthritis, and infectious diseases. This study aimed to develop an assay for the quantification of copy number variations in the C4 locus. METHODS: the assay was based on a gene ratio analysis copy enumeration (GRACE) PCR combined with high resolution melting (HRM) PCR. The test was optimized using samples of a known genotype and validated with 72 DNA samples from healthy blood donors. RESULTS: to validate the assay, standard curves were generated by plotting the C4/RP1 ratio values against copy number variation (CNV) for each gene, using genomic DNA with known C4 CNV. The range of copy numbers in control individuals was comparable to distributions observed in previous studies of European descent. CONCLUSIONS: the method herein described significantly simplifies C4 CNV diagnosis to validate the assay.
Asunto(s)
Complemento C4/análisis , Complemento C4/genética , Variaciones en el Número de Copia de ADN , Predisposición Genética a la Enfermedad , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo de Nucleótido Simple , Genotipo , HumanosRESUMEN
An interferon λ4 gene (IFNL4) knockout allele (rs368234815; TT) is associated with spontaneous and IFN-α-dependent cure of hepatitis C virus infection. The role of this polymorphism in the susceptibility to human immunodeficiency virus type 1 (HIV-1) infection is controversial. This study aimed to assess the association of this knockout IFNL4 variant and sexually transmitted HIV-1 infection. A total of 228 HIV-1-positive individuals and 136 HIV-exposed seronegative individuals were investigated for their association with IFNL4 rs368234815 genotypes. The IFNL4 ΔG functional allele is associated with increased susceptibility to HIV-1 infection through the sexual route (odds ratio [OR], 2.1; 95% confidence interval [CI], 1.2-3.6; P = .004). A meta-analysis including a population of injection drug users suggests a codominant mode of inheritance of this risk factor (OR, 2.0; 95% CI, 1.3-3.2; P = .001).
Asunto(s)
Transmisión de Enfermedad Infecciosa , Predisposición Genética a la Enfermedad , Infecciones por VIH/genética , Infecciones por VIH/transmisión , Interleucinas/genética , Eliminación de Secuencia , Femenino , Genotipo , Humanos , MasculinoRESUMEN
Se trata de un Consenso acerca del Sarampión que lleva por objeto presentar una actualización con relación a los aspectos epidemiológicos, clínicos y terapéuticos de la patología.
It is a consensus about measles in which it is presented an actualization in regards of epidemiological, clinical and therapeutic aspects of the pathology.
RESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Aneurisma/diagnóstico , Bloqueo Atrioventricular/complicaciones , Corazón Auxiliar , Síncope/etiologíaAsunto(s)
Bloqueo Atrioventricular/etiología , Aneurisma Cardíaco/complicaciones , Bloqueo Atrioventricular/diagnóstico por imagen , Ecocardiografía Transesofágica , Electrocardiografía , Femenino , Aneurisma Cardíaco/diagnóstico por imagen , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/diagnóstico por imagen , Tabiques Cardíacos/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Síncope/etiologíaRESUMEN
La transmisión vertical del VIH puede disminuirse con el uso de antirretrovirales en la mujer embarazada infectada y en el neonato, induciendo el nacimiento por cesárea electiva o evitando la lactancia materna. En Venezuela el Programa Nacional de VIH comenzó desde 1999-2000 dándole prioridad a la prevención vertical. No obstante, todavía nacen pacientes infectados. Evaluar la implementación de medidas preventivas de la infección vertical del VIH en pacientes infectados, en relación a la disponíbilidad del Programa Nacional. Se realizó un estudio transversal/comparativo, incluyendo pacientes infectados verticalmente por VIH del Servicio de Enfermedades Infecciosas, Hospital de Niños "J.M de Los Ríos" Caracas, Venezuela. Grupo I nacidos entre 1996-2000 y Grupo II nacidos entre 2001-2005. Se registraron datos del control prenatal y medidas preventivas aplicadas. Se comparó las frecuencias mediante el método chi-cuadrado. Se incluyeron 89 pacientes: Grupo I, 63 pacientes (70,8 por ciento) y Grupo II, 26 pacientes (29,2 por ciento). Las medidas preventivas implementadas en ambos grupos fueron las siguientes: administración de antirretrovirales en embarazadas 7,55 por ciento en el Grupo I y 8 por ciento en el Grupo II. Nacimiento por Cesárea electiva: 10 por ciento en el Grupo I y 16,67 por ciento en el Grupo II. Administración de antirretrovirales en neonatos, 9,09 por ciento en el Grupo I y 12 por ciento en el Grupo II. Alimentación con lactancia materna: Grupo I 82,4 por ciento y Grupo II 73,91 por ciento. Control prenatal: 58,83 por ciento Grupo I y 25 por ciento Grupo II (diferencia significativa: p<0,05). La detección del VIH se realizó solo una vez durante embarazo: 61,91 por ciento Grupo I y 38,89 Grupo II. A pesar de la disponibilidad del Programa Nacional de VIH, la implementación de medidas de prevención vertical fue escasa en ambos grupos. Además, el control prenatal fue especialmente inadecuado en el Grupo II.
HIV vertical transmission may be diminished with antirretroviral treatment in infected pregnant women and newborns, with elective cesarean procedures or by avoiding breastfeeding. The HIV National Program began in Venezuela since 1999-2000 giving priority to vertical transmission preventive measures. Nevertheless, infected patients are still born. To evaluate implementation of measures used to prevent vertical transmission in HIV infected patients, in regard to the availability of the HIV National Program. The study was of a transverse/comparative type, including HIV vertically infected patients attended at the Infectious Diseases Department, Hospital de Niños "J.M. de Los Ríos" Caracas, Venezuela. Patients included in Group I were born between 1996-2000 and those in Group II were born between 2001-2005. Perinatal control data and preventive measures were recorded. The frequencies of the data were compared by the square chi method. 89 patients were included: Group I, 63 (70,8%) and Group II 26 (29,2%). Anti retroviral treatment was given in 7,55% of pregnant women in Group I and in 8% of Group II. Elective cesarean section was accomplished in 10% Group I and 16,67% Group II. Newborns with anti retroviral treatment were 9,09% in Group I and 12% in Group II. Breastfeeding was offered in 82,4% Group I and 73,91% Group II. Prenatal control was done in 58,83% Group I and 25% Group II (significant differences: p <0,05). HIV test during pregnancy was done only once, 61,91% Group I and 38,89% Group II. In spite of the availability of the HIV National Program, the implementation of prevention measures was scarce in both groups. In addition prenatal control was specially inadequate in Group II.