ABSTRACT
Recurrent miscarriage is a critical problem in which many factors play a crucial role such as. antiphospholipid antibodies [APA] and anticardiolipin antibodies [ACA]. Recent studies pointed to a potential role of thrombophilias as a possible cause of recurrent miscarriage [RM]. This study was conducted to determine the frequency of the primary and secondary antiphospholipid syndrome and the haemostatic abnormalities in women with history of RM. This study was a case control study, conducted from Febraury-2008 to February -2011 in Khartoum State. A total of 100 women with three or more consecutive recurrent miscarriage without previous living babies as case group and 100 non complicated pregnant women were screened for the presence of antinuclear antibodies [ANA], anti-double stranded DNA [anti-dsDNA], antiphospholipid antibodies [APA IgM/IgG], and anticardiolipin antibodies [ACA/IgG] by using Enzyme Linked Immuno-Sorbent Assay [ELISA]. Patients with history of three miscarriages with delivery of full-term or preterm babies in between or with medical termination of pregnancy were excluded from this study. Women positive for APA were asked for a repeat sample after 6 weeks to run confirmatory test. Patient and control groups were also screened for the count of platelets using Sysmex KXN-21, Activated Partial Thromboplastin Time [APTT], Prothrombin Time [PT] and Thrombin Time [TT] using coagulometer Biobas 10. The frequencies for both APA and ACA were 20%. ANA and Anti-dsDNA were 12%. There was a significant correlation between age and the presence of APA [P=0.03], ACA [IgG] [P=0.04], ANA and Anti-dsDNA [P=0.013]. Frequencies for, thrombocytopenia and lupus anticoagulant [LA] were 8% and 20% respectively. 5% had prolonged PT, whereas the remaining patient and control groups had normal results. The data concluded that the frequencies of APA, ACA, ANA, Anti-dsDNA, in women with RM obtained in this study were in agreement to the frequencies for these parameters obtained in previous studies and their presence were significantly associated with recurrent miscarriage. Frequencies of LA and thrombocytopenia were significantly associated with recurrent miscarriage. Prolongation in PT may be due to the presence of anti-prothrombin antibodies in serum of patients with recurrent miscarriage. The current study recommends measuring of APA, ACA, Anti-dsDNA-antibodies and assessment of platelets count, APTT and PT in all women with recurrent miscarriage and late pregnancy loss
ABSTRACT
Cytokines play a major role in protection against Mycobacterium tuberculosis infection and regulate the immune responses at a cellular level. Cytokine profile determines clinical outcome of the disease and responses to treatment as well. A T helper 1 [Th1] cytokine interferon gamma [IFN-gamma] is one of the most important cytokines which activate the macrophages to produce tumor necrosis factor-alpha [TNF-alpha]. Excessive production of TNF- alpha have been implicated in immunopathogenesis of tuberculosis. A T helper 2 [Th2] response leads to release of IL-4, and IL- 10 promoting an anti-inflammatory macrophage response. Interleukin-4[IL-4], has been implicated to down-regulate IFN-gamma, and thus has a harmful effect on TB patients. IL10 cytokine has the capacity to inhibit Th1 activation and thus terminates cell mediated immune responses. The objective of the present study was to determine Th1 and Th2 cytokine profile in patients with tuberculosis to identify immunological marker for follow up of the disease activity, and to study the outcome of treatment. To examine this, blood samples were collected from newly diagnosed HIV negative pulmonary tuberculosis patients and from apparently healthy individuals as controls following an informed consent. Blood samples were as well collected at several intervals during the treatment with anti-tuberculosis drugs. Levels of IFN-gamma, TNF- alpha, IL-4 and IL-10 were measured pre and during treatment using commercial available enzyme-linked immune-sorbent assay [ELISA]. Data were analyzed using SPSS 20. Receiver Operating Characteristic [ROC] Curve analysis has been carried out to assess their discriminative power and to determine cut-off values. Analysis has been carried out further by calculating other measures of diagnostic test accuracy. The median serum level of IL-4 was 20 and 35 pg/ml higher in new cases [untreated patients] and in patients under treatment with oral anti-tuberculosis, respectively, compared with that of controls [p=001]. Levels of TNF- alpha were significantly increased in patients before and after the treatment than those in control [p=0.001]. New cases had the highest median level [10pg/ml] followed by those under treatment group [6pg/ml]. Levels for IFN-gamma were not statistically different between patients and controls [p=0.351]. Median levels of IL10 were similar in both controls and new cases groups [35pg/ml], but lower in patients under treatment group [20pg/ml]. Increase in levels of IL-4 during treatment showed that Th2 immune responses still present and may indicate active disease and thus IL4 cytokine may be a possible marker for the disease activity. Serum levels of TNF- alpha in TB patients is useful in the evaluation of the disease activity during therapy, not replacing clinical parameters of disease activity in TB. Similar to TNF- alpha, IL-4 can also be used as marker for TB severity. On the other hand IL-4test can be used to diagnose TB in highly exposed suspects where a positive result is more likely to indicate TB
ABSTRACT
The present study is the first human cytogenetic project in Sudan which was titled: Cytogenetic and FISH analyses in Sudanese patients with dysmorphic features, ambiguous genitalia, and infertility. The aim of the present study was not only to characterize the genetic alterations in patients with dysmorphic features, ambiguous genitalia and/or infertility among Sudanese population, but also to attract the medical community attention to the importance of human cytogenetics in clinical genetics practice, and also to facilitate the introduction and clinical application of such valuable service in Sudan. In this study chromosomal G-banding and fluorescence in situ hybridisation [FISH] analysis were performed on 44 Sudanese patients, 29 females, 14 males, and one patient with unassigned sex. Patients age ranging between 17 days-39 years [mean 18 years]. Of the 44 patients, 20 had ambiguous genitalia, 8 dysmorphic features, 11 have puberty and/or fertility complains, and 5 were healthy individual [parents of 3 patients with dysmorphic features]. Cytogenetic analysis of 20 patients complaining of ambiguous genitalia [13 females and 6 males, and one case with unassigned sex] showed that 8 has karyotypes different from their assigned sex and the other cases showed karyotypes consistent with Edward syndrome [47,XX,+18] [case 7], and a case with 45yXdel[X][pll] [case 11] respectively, when using FISH the 45,Xdel[X][pl 1] case showed translocation of the SRY [sex-determining region Y], gene to the active X chromosome. For the 8 patients of dysmorphic features; five showed karyotypes consistent with Down syndrome, of which one showed Robertsonian translocation, with both FISH and ordinary G-banding, and the other three showed normal karyotypes. All the parents showed normal karyotypes. Among the infertility cases all showed normal karyotypes, except for two which showed karyotypes consistent with Turner syndrome and one which showed a male karyotype although the case was raised as a female; ultrasound showed a mass in the position of prostate. The study, the ever first one in Sudan, assured the importance, the possibility, and the need for cytogenetic and FISH analysis in diagnosis, management and genetic counseling of genetic diseases caused by constitutional chromosomal changes among Sudanese patients