RESUMO
La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos caso(AU)
Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)
Assuntos
Humanos , Deficiência de IgA/imunologia , Doença Celíaca/imunologiaRESUMO
La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos casos(AU)
Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Doença Celíaca/epidemiologia , Imunodeficiência de Variável Comum/diagnóstico , ImunoglobulinasRESUMO
Introducción: la infección por el virus de la hepatitis B constituye uno de los principales problemas de salud a nivel mundial, su espectro clínico es variable.Objetivo: Identificar infección oculta y coinfección viral en pacientes con hepatopatía crónica por virus B. Material y Métodos: se realizó un estudio observacional descriptivo transversal en pacientes con hepatitis B crónica con carga viral detectable, atendidos durante el último trimestre de 2014 en el Instituto de Gastroenterología. Se estimó la seroprevalencia de anti HVC y anti HIV así como la frecuencia de AgHBs, y Anti S, las asociaciones fueron evaluadas mediante el estadígrafo x2. Resultados: existió un predominio de las cargas virales bajas para 81.3 por ciento. El 28.7 por ciento de las muestras fueron AgHBs negativas, sugestivas de infección por virus oculto. Se detectaron niveles de protección frente al antígeno S en 20 % de los pacientes con carga viral baja. la coinfección a hepatitis C fue frecuente para 8.4 por ciento. Conclusiones: la infección oculta al virus de hepatitis B fue frecuente en las muestras procesadas en el Instituto de Gastroenterología, con asociación a coinfección al virus de hepatitis C(AU)
Introduction: infection with the hepatitis B virus is one of the major health problems worldwide, clinical spectrum is variable. Objective: to identify occult viral infection and co-infection in patients with chronic liver disease for virus B. Material and Methods: a cross-sectional observational study was conducted in patients with chronic hepatitis B with detectable viral load seen during the last quarter of 2014 in the Institute of Gastroenterology. The seroprevalence of anti HCV and anti HIV and the frequency of HBsAg and Anti S was estimated associations were evaluated using the x2 statistic. Results: there is a predominance of low viral loadsto81.3 percent. 28.7 percent of samples were HBsAg negative, suggestive of occult virus infection. Protective levels against the antigen S were detected in 20 percent of patients with low viral load.Hepatitis C coinfection was frequent for 8.4 percent. Conclusions: the occult infection hepatitis B virus is common in samples processed at the Institute of Gastroenterology with associated coinfection virus hepatitis C(AU)
Assuntos
HumanosRESUMO
We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.