Avances en el diagnóstico de la enfermedad granulomatosa crónica: primer estudio familiar en Cuba / Advances in the diagnosis of chronic granulomatous disease: the first family study in Cuba

Introducción: La enfermedad granulomatosa crónica es una inmunodeficiencia primaria causada por mutaciones en la enzima NADPH oxidasa. Esta compromete la producción de especies reactivas del oxígeno, que son importantes contra patógenos. La prueba de la oxidación de la dihidrorodamina es un método eficaz para diagnosticar la enfermedad. Objetivo: Demostrar la utilidad de la prueba de la oxidación de la dihidrorodamina y del patrón de herencia en la confirmación del diagnóstico de la enfermedad granulomatosa crónica de un paciente. Métodos: Estudio de caso de una familia con diagnóstico de enfermedad granulomatosa crónica. Se tomó muestra de sangre periférica para citometría de flujo a tres individuos. Se realizó la prueba de la oxidación de la dihidrorodamina bajo estímulo con acetato de forbolmiristato y se evaluaron las subpoblaciones linfocitarias. Las muestras se leyeron en un citómetro GALLIOS, Beckman Coulter. Los datos obtenidos se analizaron en el programa informático Kaluza. Resultados: El paciente masculino tuvo un valor de oxidación de la dihidrorodamina positiva de 0,87 por ciento, que confirmó un patrón de herencia ligado al cromosoma X; mientras que la madre y hermana gemela portadoras tuvieron valores de 46,76 por ciento y 37,32 por ciento, respectivamente. Se encontraron alteraciones en las subpoblaciones linfocitarias. Conclusiones: La prueba de la oxidación de la dihidrorodamina es un método muy efectivo, rápido y sencillo que confirma el diagnóstico de la enfermedad granulomatosa crónica y determina el patrón de herencia y fenotipo de la enfermedad. Además, permite identificar a las mujeres portadoras según la distribución de los neutrófilos normales y los que tienen el gen CYBB mutado(AU)

Introduction: Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the NADPH oxidase enzymes. This compromises the production of oxygen reactive species, which are important against pathogens. The dihydrorhodamine oxidation test is an effective method for diagnosing the disease. Objective: To demonstrate the usefulness of the dihydrorhodamine oxidation test and the inheritance pattern in confirming the diagnosis of chronic granulomatous disease in a patient. Methods: A case study of a family with a diagnosis of chronic granulomatous disease. A peripheral blood sample was taken from three individuals and by flow cytometry. The dihydrorhodamine oxidation test was performed under stimulation with phorbolmyristate acetate, and lymphocyte subpopulations were evaluated. The samples were read on a GALLIOS, Beckman Coulter cytometer. The data obtained were analyzed using the computer program Kaluza. Results: The male patient had a positive dihydrorhodamine oxidation value of 0.87 percent, which confirmed an inheritance pattern linked to the X chromosome; while the carrier mother and twin sister had values 8203;8203;of 46.76 percent and 37.32 percent, respectively. Alterations were found in the lymphocyte subpopulations. Conclusions: The dihydrorhodamine oxidation test is a very effective, fast and simple method that confirms the diagnosis of chronic granulomatous disease and determines the inheritance pattern and phenotype of the disease. In addition, it allows the identification of female carriers according to the distribution of normal neutrophils and those with the CYBB mutation(AU)

[Radiation damage to the hemopoietic system of mice, carriers of the leukemia virus]. / Radiatsionnoe porazhenie sistemy gemopoéza u myshei--nositelei virusa leikoza.

The experiments with AKR mice, that are carriers of the T-cell leukemia virus showed their higher radiosensitivity as compared to (CBA x C57Bl)F1 mice in respect of survival and hemopoietic status. The regular patterns observed are presumed to result from lower ability of AKR mice to repair radiation damage and provide resistance to infections.

The role of HBV-infection in development of cataracts in children and adults.

Possible role of intrauterine HBV infection in the formation of congenital non-hereditary cataracts is testified by discoveries of HBV markers in lens masses, aqueous humor of the anterior chamber and blood serum of the operated children and in blood of mother. We consider the patients with chronic diffuse liver diseases of HBV etiology to be a risk group of post capsular cataracts' formation. The development of these cataracts is associated with the progress of the basic liver disease. Among practically healthy persons, the initial lens changes are more often observed in carriers of australian antigen. Early signs of lens diseases in children and young or middle-aged adults determine the social meaning of this problem and reasons for the regular ophthalmologic check-up of patients with virus liver diseases and somatically healthy virus carriers.

[The vaccinal prevention of the HBsAg carrier state among newborn infants]. / Vaktsinoprofilaktika nositel'stva HBsAg sredi novorozhdennykh.

The paper presents the data on the time course of HBsAg carrier state in babies born to mothers with antigenemia indicating the dependence of the pattern of the antigen carrier state in babies upon the time of its primary detection. The stable (chronic) HBsAg carrier state in babies was shown to be formed after the first 3 months of life which attests to the necessity of using a vaccine against hepatitis B (HB) for prevention of HBsAg carrier state in newborns. The results of epidemiological survey in 185 babies developing HB with the analysis of all possible factors of their infection contraction are presented. The efficacy of the national plasma vaccine against hepatitis B is evaluated in observations of the newborn babies whose mothers were carriers of HBsAg. It was established that in vaccinated babies after 3 injections of the vaccine at 0, 1, and 6 months the rate of antigen detection was 3.3% and that of antibody 80% whereas in babies of the control group these values were 23.7% and 8.0%, respectively.

Should all pregnant women be screened for hepatitis B?

To assess the sensitivity of historical risk factors for identification for hepatitis B surface antigen (HBsAg)-positive parturients, 4399 pregnant women were consecutively screened for HBsAg. Information regarding risk for hepatitis B infection was obtained from each HBsAg-positive parturient. Twenty-three HBsAg-positive subjects were identified (5.2/1000 deliveries). The HBsAg carrier rate (18/2231, or 8.1/1000 deliveries) was significantly higher in women of black, Asian, or Hispanic origin than in the remaining ethnic groups (non-Hispanic whites plus all others, 5/2168, or 2.3/1000 deliveries) (chi square, 5.95; p = 0.016). Risk factors for identification of HBsAg-positive women were present in 10 of 22 asymptomatic subjects (sensitivity, 45%; 95% confidence interval, 24% to 68%). Much of the information required to assess one of these risk factors, previous infection, involved detailed questioning and is unlikely to be obtained in the context of conventional obstetrical care. Routine maternal HBsAg screening programs may be needed if transmission of hepatitis B from mother to infant is to be prevented.