Inherited Thrombophilias Could Influence the Reproductive Outcome in Women with Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained. Genotyping for the FVLeiden, FIIG20210A, and MTHFRC677T polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. No significant differences in the prevalence of the FVLeiden, FIIG20210A, and MTHFRC677T polymorphisms between patients and controls were established. Patients with FVLeiden had fewer pregnancies (0.57 ± 0.98 vs. 2.18 ± 1.58; p = 0.007) than the others, while no significant differences in the reproductive history of FIIG20210A carriers and non-carriers were observed (p >0.05). In the SLE group, 41.67% of women with the MTHFRC677T TT genotype had at least one miscarriage in comparison to only 14.00% of the other female patients (p = 0.030). While the prevalence of the investigated thrombophilias was similar in patients with SLE and healthy women, a substantial influence of the inherited prothrombotic factors on the reproductive history of patients was revealed. The investigations of the FVLeiden and MTHFRC677T polymorphisms in SLE patients could help to identify women at highest risk for reproductive failure and thus, further studies in other ethnic groups would be of strong clinical importance.

Melatonin receptor 1b polymorphisms in women with Systemic Lupus Erythematosus.

AIM: The pineal hormone melatonin could exert an important influence on the immune system and autoimmunity. Its effect on the immunocompetent cells might be mediated at least partially through specific melatonin receptors. However, the role of melatonin - melatonin receptor 1B (MTNR1B) interrelations in human autoimmune diseases is still unknown. Therefore, the present study aimed to investigate the possible influence of the MTNR1B gene polymorphisms for the development and clinical expression of systemic lupus erythematosus (SLE). METHODS: 109 female SLE patients and 101 healthy women were genotyped for the MTNR1B rs1562444, rs10830962 and rs10830963 polymorphisms. RESULTS: No genotype distribution differences were found between patients and controls. The presence of MTNR1B rs10830963 C/C genotype was related to increased prevalence of leucopenia compared to genotypes C/G and G/G after Bonferroni correction for multiple comparisons [36.5% vs. 14.5%, p=0.014]. Moreover, the rs10830963 G/G carriers had lower number of lupus criteria in comparison to patients with C/C genotype. CONCLUSIONS: The present data suggested that MTNR1B polymorphisms could influence the clinical features in lupus patients, and especially the susceptibility to leucopenia.

[PAL-1 5G/4G polymorphism in patients with systemic lupus erythematosus].

Systemic lupus erythematosus (SLE) is a connective tissue disease affecting predominantly women that has been widely associated with obstetric complications. Inherited thrombophilias are significant risk factors for pregnancy loss, but their role in patients with SLE, and especially in those without concomitant secondary antiphospholipid syndrome (APS) has not been clarified. The aim of the present study was to study PAI-1 5G/4G polymorphism in women with lupus. A total of 103 SLE patients as well as 69 healthy volunteers were genotyped for PAI-1 5G/4G (rs1799889). No significant differences in the PAI-1 5G/4G genotype prevalence between patients and controls were found. After exclusion of the women with secondary APS, the frequency of pregnancies and spontaneous abortions, as well as the number of live births were similar in the studied patients with different PAI-1 genotype (p> 0.05). PAI-1 5G/4G polymorphism was not significantly related to any of the lupus ACR criteria or disease activity (p > 0.05), but it could influence the platelet number in the studied patients (263.52 ± 91.10 [5G/5G genotype] versus 210.12 ± 71.79 [4G/4G genotype], p = 0.023). In conclusion, our results showed that PAI-1 4G/5G polymorphism did not worsen the reproductive outcome in SLE women without secondary APS.

[Rumen metabolism and nonspecific resistance of early-weaned lambs reared by different technics]. / Turbukhoviiat metabolizum i nespetsifichnata ustoichivost na ranno otbiti agneta pri razlichni tekhnologii na otglezhdane.

Studied was the effect of various technologies of industrial raising--battery-cell, and loose-box--as well as of stress factors on the functional shaping of rumen metabolism and the motor activity of the forestomach, and the unspecific resistance, growth, development, and morbidity rate of early weaned lambs from the 1st to the 75th day. It was found that early weaned (on the 3rd day of age) artificially raised and nourished with a milk replacer lambs exhibited a comparatively low natural resistance. Those of the lambs that were kept in battery cells gave losses amounting up to 5 animals (13.9 per cent) due to bronchopneumonia and white muscle disease. With the use of the group box technology of raising the death cases were 3 (8.3 per cent), 2 of which were due to tympanits. Loosely raised lambs with their ewes showed higher average daily gain (24.9 per cent) as against those raised after the group box system; it was also higher (25.9 per cent) than that of lambs raised in battery cells. With lambs raised in boxes the total locomotor activity of the forestomach proved higher (991 units) as compared to lambs kept in battery (670); it proved lower than that in lambs raised together with their ewes.

Frequency of glucose-6-phosphate dehydrogenase deficiency in relation to altitude: a malaria hypothesis.

Genetic markers have recently been found to be much more polymorphic than expected. Such extensive human polymorphisms may be partly explained by a number of genetic and environmental factors, including infectious diseases. Malaria, which was very widespread in the past and still poses a problem in many countries today, is a good candidate for research. The association between malaria and glucose-6-phosphate dehydrogenase (G6PD) deficiency is well-known, but more should be done to determine the mechanisms responsible for this positive correlation and to confirm that malaria is a strong selective factor for many other genotypes also. The present paper refers to a WHO project on genetic markers and susceptibility to infectious diseases, which is concerned mainly with G6PD deficiency and the following genetic markers: haemoglobinopathies, including the beta-thalassaemia trait and ABO, Rh, MN, Duffy, secretory types (Ss), and human leukocyte antigens (HLA). Since malaria was eradicated in Bulgaria many years ago, human populations from this country, living at different altitudes above sea-level, were used as a model for analysis of the malaria hypothesis. The data for G6PD deficiency confirm that malaria was a selective factor in lowland areas where malaria infection was more frequent in the past. It is, moreover, apparent that in addition to malaria some other factors also play a selective role.