RESUMEN
OBJECTIVE: The present study was designed to determine the prevalence of factor V Leiden (FVL), prothrombin gene G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR C677T) mutations in women from South-Western Greece with recurrent fetal loss (RFL) and negative personal thromboembolic history. MATERIALS AND METHODS: 212 women with RFL and 181 women with at least two pregnancies with normal outcome and no history of pregnancy loss were investigated for the commonest thrombophilic mutations (FVL, PTG, MTHFR C677T). Comparisons between groups were performed by Pearson's chi-square test and odd ratios were calculated. RESULTS: An abnormal genotype was detected in 49 women of the study group (23.1%) and in 41 women of the control group (22.6%). CONCLUSION: Inherited thrombophilia screening is not indicated as an initial approach in Greek women with RFL and negative personal thromboembolic history.
Asunto(s)
Aborto Habitual/genética , Predisposición Genética a la Enfermedad/epidemiología , Trombofilia/genética , Factor V/genética , Femenino , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas , Grecia/epidemiología , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Embarazo , Prevalencia , Protrombina/genética , Trombofilia/epidemiologíaAsunto(s)
Proteínas de Transporte de Catión/genética , Ferritinas/sangre , Hemocromatosis/genética , Sobrecarga de Hierro/genética , Transferrina/análisis , Adulto , Anciano de 80 o más Años , Proteínas de Transporte de Catión/metabolismo , Exones/genética , Familia , Grecia , Hemocromatosis/terapia , Humanos , Masculino , Mutación Missense , FlebotomíaRESUMEN
Local humoral and cellular immune responses modulate the inflammatory processes involved in the development of atherosclerotic lesions, as well as in the evolution of brain infarcts in stroke patients. The role of systemic adaptive immunity on the progression of such disease manifestations is less clear. In the current study, we evaluated the percentages of T helper 1 (Th1) [interleukin (IL)-2, interferon (IFN)-gamma] and Th2 (IL-4, IL-10) cytokine-producing peripheral blood CD4+ and CD8+ T cells in 23 patients with a history of ischaemic stroke (IS) at the chronic stable phase of the disease (median post-stroke time 34.5 months). Seven stroke-free individuals matched for age and vascular risk factors (matched controls, MC) were collected for comparison. To measure cytokine values at baseline and after stimulation, we used a flow cytometry method of intracellular cytokine staining. Intrinsic Th1 and Th2 cytokine production in unstimulated T cells was negligible in all study participants. Following mitogenic stimulation with phorbol 12-myristate13-acetate/ionomycin, both the IS and the MC groups exhibited a similarly strong Th1 response; IL-2 production predominated in the CD4+ T cells and IFN-gamma in the CD8+ T cells. However, when measuring the Th2 cytokine-production capacity post-stimulation, a significant increase in the percentage of IL-4-producing T cells was observed in the IS groups, compared with the MC group, resulting in a significantly lower ratio of IFN-gamma-/IL-4-producing T cells. No such Th2 enhancement could be confirmed for the case of IL-10. We propose that in IS patients there is a systemic shift of the immune system towards Th2 responses at the late post-acute phase of stroke.
Asunto(s)
Citocinas/biosíntesis , Accidente Cerebrovascular/inmunología , Células TH1/inmunología , Células Th2/inmunología , Anciano , Enfermedad Crónica , Femenino , Humanos , Interferón gamma/biosíntesis , Interleucina-4/biosíntesis , Activación de Linfocitos/inmunología , Masculino , Persona de Mediana EdadRESUMEN
Post-traumatic splenectomy is associated with increased postoperative morbidity and mortality and long-term impairment of humoral and cellular immunity. Alternatives to surgery have been developed to minimize or avoid the immediate and/or long-term complications of splenectomy. Herein we investigated the long-term effect of non-operative management (NOM) of the traumatic rupture of the spleen on the distribution of peripheral blood (PB) lymphocyte populations and cytokine production by T cells. PB samples were drawn from six NOM patients, 13 age-matched adults who had undergone splenectomy after trauma (SP patients) and 31 age-matched controls. Cellular phenotypes and the intracellular production of interferon (IFN)-gamma, interleukin (IL)-2, IL-4 and IL-10 cytokines in T cells were determined in whole blood +/- mitogens by flow cytometry. NOM patients did not show any changes in the absolute numbers of lymphocytes or the distribution of their subsets, compared to the controls. In contrast, SP patients showed a sustained increase in the percentage and/or absolute numbers of lymphocytes, CD8 T cells, activated CD8 T cells, natural killer (NK) T cells, NK cells and gammadelta T cells, and a reduction in naive CD4 T cells. The constitutive or induced cytokine production by T cells of the NOM group was similar to the control group, whereas SP patients had increased percentages of constitutive IL-2- and IFN-gamma-producing CD8 T cells and IFN-gamma-producing CD4 T cells. Our findings indicate collectively that the healing process in NOM does not affect the architecture of the spleen to such an extent that it would lead to long-term alterations of the proportions of PB lymphocytes or the T cell cytokine profiles.
Asunto(s)
Citocinas/biosíntesis , Subgrupos Linfocitarios/inmunología , Esplenectomía , Rotura del Bazo/inmunología , Rotura del Bazo/terapia , Adulto , Anciano , Femenino , Humanos , Inmunidad Celular , Inmunofenotipificación , Activación de Linfocitos/inmunología , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Mitógenos/inmunología , Periodo Posoperatorio , Rotura del Bazo/cirugía , Células TH1/inmunología , Células Th2/inmunologíaRESUMEN
Inherited thrombophilia has been suggested as a possible condition of increased susceptibility to adverse pregnancy outcomes. In our prospective study, we investigated the association between combined inherited thrombophilia and adverse pregnancy outcome in the South-Western Greek population. Three hundred and ninety-six healthy Greek women with spontaneous pregnancies were investigated for combinations of the three commonest thrombophilic mutations (Factor II G20210A, Factor V Leiden and MTHFR C677T) and followed for adverse pregnancy outcomes. Statistical analysis was performed by Pearson's chi-square test. Four women (1%) had the FV Leiden/MTHFR T677T double genotype and two women (0.5%) had the FII G20210A/MTHFR T677T double genotype. Although the small number of cases of combined inherited thrombophilia, it seems that the presence of FV Leiden/MTHFR T677T double genotype increases the risk for placental abruption.
Asunto(s)
Factor V/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Complicaciones del Embarazo/genética , Protrombina/genética , Trombofilia/genética , Trombofilia/fisiopatología , Desprendimiento Prematuro de la Placenta/genética , Adulto , Estudios de Cohortes , Femenino , Genotipo , Grecia , Humanos , Polimorfismo de Nucleótido Simple/genética , Embarazo , Resultado del Embarazo , Estudios ProspectivosRESUMEN
The case of a 29-year-old woman with aplastic anaemia in remission who relapsed during pregnancy is reported here. Following successful Caesarean delivery, spontaneous remission was obtained and the patient remains well thereafter. Pathogenetic and therapeutic aspects of this rare complication of pregnancy are discussed.