A novel mutation in ATP7B gene associated with severe neurological and psychiatric symptoms.
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Biomedical subjects
Publications and source records attributed to T Todorov.
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In a large-scale Bulgarian study, 122 patients with abdominal and/or lung echinococcosis were randomly selected for treatment with albendazole or mebendazole. The main aims were to evaluate the effect of each drug on the hydatid cysts, to follow the changes in cyst morphology during and after treatment, and to determine how quickly each drug produced the first, detectable, degenerative changes in the cysts. Follow-up was based on periodic ultrasonography, chest radiography and computed tomography. The abdominal cysts were categorised as small (<5 cm in diameter) or large. As albendazole treatment had effects that were almost identical to those of mebendazole treatment, the results for the two drugs were combined. In the lungs and, particularly, in the abdomen, the size of the cysts being treated influenced the character and timing of the degenerative changes seen in them. The initial change seen in each abdominal cyst was detachment of the endocyst, which occurred 1-3 months (small cysts) or 2-5 months (large cysts) after the initiation of treatment (P<0.05). The abdominal cysts then developed a hyper-echoic/hyper-dense appearance, became smaller, and finally disappeared 3.3-9.3 months (small cysts) or 5.6-13.9 months (large cysts) after treatment began (P<0.05). The first degenerative change noted in the lung cysts was cyst rupture, which occurred as early as day 10 of therapy but was generally observed 1 or 2 months after treatment began. After their complete evacuation, the ruptured lung cysts shrank and became deformed, some disappearing within 5-9 months of the initiation of treatment. The degenerative changes recorded, which began significantly earlier in the lung cysts than in abdominal cysts, indicate serious damage to the cysts and the parasiticidal, curative effect of each of the two benzimidazoles employed.
The eye manifestations of congenital toxoplasmosis were investigated in 38 infants and children. Diagnosis of the congenital ocular lesions was established clinically, using also X-ray, computed tomography and ultrasonography, and confirmed by two immunodiagnostic techniques. Infants and children were examined when one or more characteristic manifestations of ophthalmic disorders were present. Typical symptoms and signs can present at birth or appear later in life. The multiplicity of clinical manifestations is characteristic of the disease. The most common symptom was chorioretinitis (92%), associated in 71% of the cases with other ocular lesions, and the second most common symptom was microphthalmia and strabismus. The inflammatory process also involved the anterior segment of the eye: iridocyclitis, cataract, glaucoma. Other rare findings were hydrocephalus, calcification in the brain, paresis, epilepsy and diminished visual acuity. The study showed that transplacental transmission of Toxoplasma to the fetus can have severe clinical consequences and terminate in fatal ocular impairment.
The complexation between copper(II) and the antihypertensive drug oxprenolol (HOxp) was studied both in methanol and slightly alkaline aqueous media at Cu:HOxp molar ratio from 1:1 to 1:10. Copper(lI) forms two types of complexes-a mononuclear violet one, CuOxp2, with bidentately bound ligands and a green dimeric one, Cu2Oxp2Cl2, in which the two Cu(II) centres are linked by the ligand through oxygen bridges. The crystal structure of the Cu2Oxp2Cl2 complex consists of two crystallographically non-equivalent centrosymmetric copper dimers. Each copper atom is four-coordinated in a distorted square-planar environment. The Cu2O2 structural core is characterized by a Cu1-O1-Cu1' angle of 104.15(13)degrees (Cu2-O2-Cu2' 104.30(13) degrees) and a relatively short Cu1-Cu1' separation of 3.026(1) A (Cu2-Cu2'-3.023(1) A). Magnetic susceptibility and EPR measurements indicate an antiferromagnetic coupling of the copper(II) centers.
The aim of this investigation was to establish the clinical and electromyographic pattern of tremor in patients with depression.Twenty-eight patients with depression and tremor and 30 patients with tremor and generalized anxiety disorder were investigated. Tremor was scored clinically by the Webster Tremor Scale. Electromyographic examination of tremor activity from antagonistic hand muscles was performed.Our results revealed in both groups of patients a postural and kinetic tremor with characteristics of an enhanced physiological tremor. Tremor involved only both upper limbs and no other body parts in all patients.In conclusion tremor in depression and generalized anxiety disorder is an enhanced physiological tremor.
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Between 1971 and 1995, 5874 patients underwent surgery in Bulgaria because of cystic echinococcosis caused by Echinococcus granulosus. Of these 5874, 10.6% were children aged < 15 years and 5.25% adolescents aged 15-19 years, giving annual incidences of 1.25 and 2.03/100,000 inhabitants, respectively. Although the annual incidence of surgery for echinococcosis among adults (3.12/100,000) was higher than the combined value for children and adolescents (1.48/100,000), the data indicate that most human infections with E. granulosus occur during childhood and adolescence. In evaluating the epidemiology of echinococcosis or the effectiveness of a control programme, therefore, reductions or increases in the incidence of clinical disease among children and adolescents indicate an improving or worsening situation, respectively. The incidence of surgical treatment for echinococcosis was higher in males than females in all but the youngest subjects (< 5 years) and adults (> 19 years). It was also higher in rural populations than in urban populations, particularly among children and adolescents. Whereas cysts were found more frequently in the lungs of children and adolescents than their livers (51.8% v. 38.3% of the patients), most cysts found in the adults were hepatic (73.5% of patients) and relatively few were in the lungs (14.4% of patients).
Fifty-three patients with single, multiple and/or multi-organ hydatid cysts were treated with mebendazole, in varying dosages (30-70 mg/kg.day) and over varying periods (6-24 months). Treatment failure was recorded if the mebendazole had no apparent effect on cyst morphology (monitored by radiology, ultrasonography and computed tomography) or only a parasitostatic effect (characterized by mixed and transitory, hypo- and hyper-echoic changes in the lesions). Cure was indicated by a parasitocidal effect (characterized by a totally echogenic picture, increased density of the cyst contents, reduction in the size or complete disappearance of the cysts, complete detachment of the endocysts and/or calcification of the cyst wall). Treatment failure was seen in about 40% of the patients and cure in about 38%; the other 23% had an intermediate result considered as an improvement. Cure rates increased both with dosage and duration, daily dosages of 60-70, 50 and 30-40 mg/kg curing 48%, 33% and 25%, respectively. The pre-treatment condition of any cysts should be taken into consideration when determining dosage and treatment duration.
The present article describes the importance of human echinococcosis as a public health problem in Bulgaria, outlines the control measures carried out and evaluates comparatively the situation over three periods spanning 46 years (1950-1995). During the first period (1950-62), a total of 6469 new surgically confirmed cases of hydatid disease were recorded in Bulgaria, with an annual incidence of 6.5 per 100,000 population, and the infestation rate in domestic animals and dogs was high. Echinococcosis was endemic throughout the country. The organization of a control campaign, initiated in 1960, led to a considerable improvement in the situation during the second period (1971-82). Morbidity among humans gradually decreased, with an average incidence of 2.0 per 100,000, and the proportion of infected animals also fell. The distribution of echinococcosis was characterized as sporadic or of low endemicity. During the third period (1983-95), owing to administrative irregularities and economic changes, funds for supporting the campaign were reduced and control structures were dismantled. As a result, the incidence rose to 3.3 per 100,000. Echinococcosis again became endemic, in some regions hyperendemic. The findings provide convincing evidence that cessation of control measures or reduction of campaign activity can lead to intensification in the transmission of Echinococcus granulosus and to a resurgence in echinococcosis to previous levels.
Fifty-six patients presenting choledocholithiasis are covered by the study. They are distributed in groups according to total serum bilirubin values, as follows: with total serum bilirubin < 20 mumol/l--17; 20 to 50 mumol/l--13; 50 to 80 mumol/l--9; and > 80 mumol/l--17 cases. Sixty healthy, sex and age matched individuals serve as controls. The immunocompetent cells are determined flow cytometrically with FACS TAR (BECTON DICKINSON). A panel of monoclonal antibodies (Becton Dickinson) is used, including: Leu4 (anti-CD3+)--T-lymphocytes; Leu3a (anti-CD4+)--helper/inducer lymphocytes; Leu2a (anti-CD8+)--suppressor/cytotoxic cells; Leu11a (anti-CD16+)--cells with a natural killer activity; Leu12 (anti-CD19+)--B-lymphocytes. As shown by the obtained results there are no changes in cell-mediated immune response among choledocholithiasis patients with normal values of total serum bilirubin. Parallel to increasing the degree of cholestatic jaundice (ChJ) severity, the absolute values of lymphocytes and their subpopulations decrease. The deficit is most clearcut in patients presenting the highest degree cholestasis, as compared to healthy individuals ((Ly: 1690 +/- 174/2277 +/- 186; CD3+: 956 +/- 119/1793 +/- 67; CD4+: 607 +/- 83/988 +/- 80; CD8+: 239 +/- 52/639 +/- 85; CD16+: 146 +/- 38/367 +/- 55; CD19+: 181 +/- 33/200 +/- 13. In 11 cases with early restored biliary drainage (by the 21st day of ChJ), total serum bilirubin decreases within 10 days after the operation (choledochoduodenoanastomosis), whereas lymphocytes and their subpopulations show an increase in absolute values. Two months after choledochoduodenoanastomosis, the total serum bilirubin and the lymphocyte subpopulations being examined regain their normal values. In two instances with rather late biliary drainage recovery (30 days after ChJ) the total serum bilirubin and lymphocyte subpopulations under study show no tendency whatsoever towards normalization at 10 days postoperatively. The results of the study demonstrate that the poor prognosis among ChJ patients is also related to inhibition of the cell-mediated immune response. The early biliary drainage recovery (at 21 days of ChJ) exerts a more favourable effect on the immune system, and improves the prognosis of the clinical course run by the pathological process.
Mucinous breast carcinomas, denominated also gelatinous, mucoid and colloid (collomas), represent a heterogeneous group of neoplasms. More than half of them exhibit signs of neuroendocrine differentiation. Eighteen mucus producing carcinomas of the breast are subjected to morphological study. On the ground of demonstrating argyrophilia by the methods of Grimelius and Churukian--Shenk, and presence of secreting granules during electron microscopic study, they are assigned under the heading apudomas, i.e. tumors of the diffuse endocrine system, or the so-called APUD-system. The important practical implications of demonstrating neuroendocrine cells with a special reference to the biological patterns of this particular type of tumors are discussed.
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Genetic recombination has been shown to occur by conventional crosses in the spectinomycin-producing strain Streptomyces flavopersicus. Five auxotrophic markers were arranged on the rudimentary genetic map of S. flavopersicus by haploid recombinant analysis.
Over the past six years, three patients presenting ectopic pancreas with a gastric location are subjected to treatment in the surgical clinic. In all three cases the ectopic glandular tissue is located submucously within the antrum. The clinical picture is diverse and not characteristic. Bleeding from the digestive tract is noted as a complication. The incidence, pathogenesis, pathoanatomy, clinical course, diagnosis and treatment of this relatively rare condition are discussed against the background of a comprehensive literature survey.
Protoplasts of Streptomyces flavopersicus with the highest regeneration frequency were isolated from late log phase mycelium grown in a two-stage culture system with 2% glycine in the medium. Of the 11 regeneration media tested, R9 was selected as the most efficient with 29 degrees C as the best temperature.