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.

Adult Niemann-Pick disease type B with myositis ossificans: a case report.

Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.

[The influence of pregnancy on the systemic lupus erythematosus].

Systemic lupus erythematosus (SLE) is an autoimmune disease caused by the interaction between genetic and environment factors which leads to abnormal immune responses. SLE affects more commonly women of childbearing age which raises the following questions--the influence of the disease activity on pregnancy and the influence of pregnancy on disease activity. On the one hand physiological changes occurring during pregnancy could lead to increased SLE activity, on the other hand the latter could mimic SLE activity. Differentiating these manifestations is important for the clinical practice--pregnancy and delivering guidance and SLE therapy.

[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.

Large J expansion in ABJM theory revisited.

Recently there has been progress in the computation of the anomalous dimensions of gauge theory operators at strong coupling by making use of the AdS/CFT correspondence. On the string theory side they are given by dispersion relations in the semiclassical regime. We revisit the problem of a large-charge expansion of the dispersion relations for simple semiclassical strings in an [Formula: see text] background. We present the calculation of the corresponding anomalous dimensions of the gauge theory operators to an arbitrary order using three different methods. Although the results of the three methods look different, power series expansions show their consistency.

Association of +3179G/A insulin-like growth factor-1 receptor polymorphism and insulin-like growth factor-1 serum level with systemic lupus erythematosus.

The insulin-like growth factor (IGF) system plays a prominent role in the regulation of immunity and inflammation. Inappropriate balance of IGF-1 signaling has been reported in autoimmune disorders. This study was designed to compare +3179G/A IGF-1R genotype distribution in 148 systemic lupus erythematosus (SLE) patients with a group of 240 healthy donors. We also investigated serum IGF-1 levels in SLE patients and healthy controls in an association to genotype. IGF-1 serum levels were measured by enzyme-linked immunosorbent assay and genotyping for the +3179G/A polymorphism was performed by restriction fragment length polymorphisms (RFLP)-polymerase chain reaction (PCR) assay. The higher frequency of homozygous genotype AA (22% vs. 17% with OR 1.319, 95% CI 0.71--2.44) and lower frequency of heterozygous genotype AG (42% vs. 46% with OR 0.698, 95% CI 0.38-1.27) were seen in cases versus controls. Serum IGF-1 levels were comparable between SLE patients and age- and sex-matched healthy donors, even when the groups was stratified according to +3179G/A IGF-1R genotypes. However, when patients were sub grouped according to the disease activity index (SLEDAI score), serum IGF-1 levels were increased in patients with severe disease activity. These results indicated that systemic lupus erythematosus activity is affected by a modulation of the insulin-like growth factor-1 signal pathway and +3179G/A IGF-1R polymorphism.

[Longitudinal study of parameters of respiratory function tests and blood gas analysis in patients with progressive systemic scleroderma]. / Longitudinalen analiz na pokazatelite na funktsionalnoto izsledvane na dishaneto i kruvnogazoviia sustav pri bolni s progresivna sistemna sklerodermiia.

The longitudinal study encloses 53 patients with PSS followed up for a period of 6 years. The most frequent changes in the parameters of pulmonary function are: diffusing capacity impairment--reduction in DICO (86.8% of the patients), restrictive lung disease pattern (50.9% of the patients) and arterial hypoxemia (43.4% of the patients). The duration of PSS and the follow up period do not cause significant changes in the pulmonary function parameters and the arterial blood-gas analysis in the group of patients studied.

[99mTcDTPA-aerosol clearance in early diagnosis of pulmonary changes in patients with active systemic lupus erythematosus]. / 99mTcDTPA-aerozol kliruns v rannata diagnostika na belodrobnite izmeneniia pri patsienti s aktiven sistemen lupus eritematodes.

Nineteen patients with active SLE and a control group of 20 healthy persons were investigated. We have made to all of them 99mTcDTPA-aerosol scintigraphy and the following pulmonary functional tests--Dc CO, Dm, Vc, HRCT. Accelerated clearance of 99mTcDTPA was found in all patients with active SLE. The half-elimination time T1/2 was shortened and varied between 22.6 +/- 4.7 min for the right one. It wasn't established correlative dependence between 99mTcDTPA and the pulmonary functional tests. In 36.8% of the patients HRCT was normal, while 99mTcDTPA clearance was accelerated. This fact shows, that 99mTcDTPA-aerozsol scintigraphy is more sensitive method for early diagnosis of pulmonary changes, than the pulmonary functional tests and HRCT.

[2 cases of primary hyperaldosteronism]. / Vurkhu dva sluchaiia s purvichen khiperaldosteronizum.

Two clinical cases of women with primary hyperaldosteronism are reported. The patients presented with arterial hypertension, muscular weakness and paresthesia. Severe hypokalemia was found which was resistant to intravenous infusions of potassium but was successfully treated with low daily doses (100-200 mg) of spironolacton, an aldacton antagonist, in the course of 3-4 days. In one of the patients the primary hyperaldosteronism was related to aldosterone secretion by the cells of a malignant corticosteroma, proved histologically. A successful operation led to full recovery of the patient. In the other patient there was an idiopathic form of primary hyper aldosteronism caused by bilateral hyperplasia of the suprarenal cortex. Contemporary diagnostic and therapeutic possibilities in primary hyperaldosteronism as well as the importance of the examination of potassium serum level and kaliuria in the patients with arterial hypertension for the timely and successful diagnosis and treatment of primary hyperaldosteronism are pointed out.

[Changes in the lungs in progressive systemic scleroderma]. / Promeni v belite drobove pri progresivna sistemna sklerodermiia.

In 24 patients with progressive systemic scleroderma the respiratory disturbances, X-ray, scintigraphic and clinical deviations as well as the statistical correlations between them are described. The functional examination of respiration revealed lowered diffusion capacity, restrictive type of ventilatory failure and hypoxemia as the most frequent disturbances. The functional examination of respiration is correlated with the X-ray changes in the lungs in these patients.

[The evolution of systemic lupus erythematosus]. / Evoliutsiia na sistemniia lupus erythematodes.

172 patients with systemic lupus erythematodes (SLE), mean age 35, 4 years and mean duration of the disease 5,9 years, were followed up with the aim to study the evolution of the disease in the Bulgarian population. After 44 months of observation the patients are classified in 3 groups: A. Subclinical SLE--32 patients, B--classical SLE without unfavourable prognosis and signs--62 patients, C. SLE with a heavy course and poor prognosis--78 patients. The three groups are compared according to: mean age of the onset of the disease, mean duration of the disease up to the time of the study, mean duration up to the appearance of poor prognostic signs, number and types of the complications in the three groups up to the time of the study, number of deaths. The patients with unfavourable prognosis are with an earlier onset of the disease compared with the other patients (p less than 0.001), rapid development of severe prognostic signs in relation to the mean duration of the disease in the three groups (p less than 0.001), frequent and severe complications. 25 patients from the group with a severe course have died. The patients with a favourable course of the disease from groups A and B are with a later onset of the disease, longer duration, do not develop severe prognostic signs, the complications are mild and rare and there are no deaths.

[The survival of patients with systemic lupus erythematosus]. / Prezhiviaemost na bolnite sus sistemen lupus erythematodes.

146 patients with systemic lupus erythematodes were followed up. The patients are classified into two groups: I group--includes 74 patients treated during the 1953-1980. II group--of 72 patients treated during the period 1980-1987. Of the 74 patients of the I group 38 (51%) are still alive and 38 patients (49%) have died. From the II group 67 (93%) are alive and only 5 patients (7%) have died. 56% of the deceased patients died during the first 5 years. The following 5 years the death rate is twice as small--II dead patients (27%). Only 3 patients survived more than 15 years. The leading causes of death are: lupus nephropathy--18 patients (44%), cardiovascular lesions--12 patients (30%), neurologic complications and lately--infectious complications. A correlation between age and evolution of the disease is found: in younger age the evolution is more rapid. The analysis of the treatment of the patients from the II group reveals that the longer survival is due to the correct application of antimalarial drugs, cortisone drugs, imuran, pylse therapy with cortisone or a combination of these drugs.

[Esophageal precordial cardiac stimulation in the diagnosis of ischemic heart disease]. / Ezofagealnata predsurdna surdechna stimulatsiia v diagnostikata na iskhemichnata bolest na surtseto.

The esophageal atrial cardiac stimulation was applied to 93 patients divided into 4 groups: patients with typical, probable and atypical angina pectoris and clinically healthy controls. The tests positive for ischemic heart disease are classified into 3 classes according to the duration of ECG ischemic changes: I class--the ischemic changes are registered during the time of the test only; II class--the changes are seen in the first ECS complexes after the stimulation and III class--the changes persist after the second minute following the esophageal atrial stimulation. The test was worked out to diagnostic criteria in 92.5% of the cases and is undoubtedly positive in 77.5% of the patients with typical and probable stenocardia and in 36.6% of the patients with atypical precordial pain. Most important for the diagnosis of ischemic heart disease are: the early occurrence of ST-depression before the submaximal pulse rate is reached, registration of II and III degree of ST-depression and the appearance of chest pain during the time of the test. The esophageal atrial stimulation is a valuable method for the diagnosis of ischemic heart disease and it is surprisingly easy to perform. The method is harmless and can be applied to patients to whom the physical exercise test cannot be applied.

[Comparative studies of the distribution of hepatitis B markers among blood donors and patients with post-transfusion hepatitis in the city of Sofia]. / Sravnitelni prouchvaniia vurkhu razprostranenieto na gepatitni B-markeri sred kruvodariteli i sred zaboleli ot posttransfuzionen khepatit v gr. Sofiia.

The incidence of HBsAg, anti-HBs, HBeAg and anti-HBe was studied in blood donor via various methods. HBsAg was established in 0.9 to 1.2% on the average among the blood donors paid; in 1.4 to 3.9% among the unpaid ones and 4.7 to 5.1% among the blood donors from organized population groups. Anti-HBs was established in 14.2%, HBeAg in 13.6% and anti-HBe in 38.2% from the HBsAg positive. With the comparative juxtaposition in the post-transfusion hepatitis (PTH) among the patients admitted to hospital for viral hepatitis a tendency was established to reduction from 0.9% for the period before the testing of the blood donors for HBsAg, 7.5% for the period tested by immunoelectrophoresis (IEP), and 4.5% for the period tested by reversal passive hemagglutination (RPHA). Patients HBsAg-positive were established by IEP in 39.2% on the average and by RPHA in 48.6%. A relative increase is reported of non-B PTH, non-A, non-B PTH in particular, with the introduction of more sensitive methods for investigations of blood donors for hepatitis B markers.

[A case of rupture of the valvular cusp in a Björk-Shilley heart valve prosthesis]. / Vurkhu edin sluchai na otkusvane na klapno platno na surdechna klapna proteza na Björk-Shilley.

A case of a patient with mitral valvular disease with a mitral valve prosthesis type Björk-Shilley of two year duration is reported. The patient was admitted to the intensive care cardiac unit in grave condition--shock and left cardiac failure. The patient died after 14 hours in spine of the efforts to over come the cardiogenic shock. The post mortem examination revealed a broken prosthesis and lack of one of the cusps which was found in the abdominal section of the aorta 10 cm above the bifurcation.