[Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome]. / Mutatsiya del 1,02 kb v gene CLN3 i sindrom ekstrapiramidnykh rasstroistv.

Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical features of the unusual extrapyramidal syndrome was identified. A role of CLN3 mutations in the development of neurodegenerative disorders is discussed.

[Perfusion, Metabolism and Regional Myocardial Contractility in Patients With Valvular Heart Disease: a Long-Term Follow-Up After Valve Replacement].

AIM: To perform complex assessment of myocardial perfusion, metabolism, and regional contractility in patients with valvular heart disease (VHD) in remote period after surgical correction of heart defects. MATERIAL AND METHODS: We examined 30 patients with VHD in 1-8 years after heart valve replacement because of mitral (n=13) or aortic (n=17) valve defects of the following etiology: rheumatic heart disease (n=10), degeneration of connective tissue (n=13), infective endocarditis (n=7). For assessment of myocardial perfusion, metabolism, and regional contractility, we used single photon emission computed tomography (SPECT). RESULTS: Myocardium of patients who had undergone surgical correction of heart valve defects was characterized by dominating diffuse sclerotic changes localized mostly in basal segments. Hibernating myocardium was a less frequent finding. There were segments of borderline state with normal parameters of metabolism but slight impairment of perfusion without pronounced disturbances of kinetics. Patients with infectious etiology of valvular defects had combined perfusion and metabolic changes in multiple myocardial segments. Extensive derangements of perfusion and metabolism were characteristic for patients with connective tissue degeneration. CONCLUSION: Signs of cardiac failure caused by disturbances of myocardial perfusion and metabolism in patients with valvular heart disease can persist even after successful correction of valvular defect with normalization of intracardiac hemodynamics.

[Individual approach to choosing the exposure time during myocardial perfusion single-photon emission computed tomography].

OBJECTIVE: To assess whether the quality of the results of myocardial perfusion single-photon emission computed tomography (SPECT) may be improved by applying an individual approach to choosing the exposure time of a study. MATERIAL AND METHODS: The results of myocardial perfusion SPECT with the radiotracer (RT) Technetril upon 25-sec (short) and 60-sec (long) exposures in 22 patients with valvular heart disease (VHD) and coronary heart disease (CHD) were retrospectively analyzed. The basis for the comparative assessment of the study results was the number of myocardial impulses (NMI). The reference informative value was taken as a NMI equal to 21,000-77,000. All the patients were divided into two groups: 1) those with a NMI of below 21,000 and 2) those with a NMI of above 21,000. The raw counts of RT and lesion extent were compared in each group during two exposure modes. RESULTS: No statistically significant differences were found between the raw counts of RT in the left ventricular segments upon short and long exposure regardless of NMI. Evaluation of lesion extent revealed differences in sizes and/or location in 14 (63,6%) patient upon various exposures, most (10 patients) of them were from Group I and only 4 patients were from Group 2, these patients having marked myocardial hypertrophy. CONCLUSION: To enhance the informative value of myocardial perfusion SPECT, it is expedient to individually choose exposure time for each patient, being oriented to the time taken to achieve a NMI of at least 21,000, which can be determined by making one planar scintigram in the left anterior oblique projection (LAO 45 degrees).

[Long-term results of using mononuclear fraction of autologous bone marrow cells in complex surgical treatment of patients with heart valve failure].

The article is devoted to long-term results of pilot clinical investigation of using mononuclear fraction of autologous bone marrow cells as an additional procedure to standard surgical treatment of heart valve failure in order to improve local perfusion and contractive ability of the myocardium. The article presents results of an analysis of findings of the examination of 7 living patients within 6 years or 7 years after operation as also data of pathologicoanatomical investigation of three dead patients. The data obtained show the safety and effectiveness of this method of cell therapy in patients with heart valve failure.

[Potentialities of multispiral computed tomography in the diagnostics of pathological alterations of the colon].

The work describes an experience with using different methods of multispiral computed tomography in the diagnosis and differential diagnostics of pathological changes in the colon of patients of colonoproctological profile. Methodical variations of the computed tomography investigations are described in patients with localization of tumors in different parts of the intestine.

[Early diagnosis of pulmonary hemodynamic disorders in patients with pulmonary sarcoidosis].

A hundred and eleven patients with pulmonary sarcoidosis (PS) were examined to detect early impairments of pulmonary hemodynamics and myocardial function. A package of examinations included Doppler echocardiography at rest and with the Valsalva test, as well as electrocardiography and myocardial scintigraphy. In patients with early PS, right ventricular diastolic dysfunction is shown to be preceded by systolic dysfunction, as manifested itself in the altered ratio of different phases of right ventricular filling. As a method for early diagnosis of latent hypertension, the authors propose to use the Valsalva test to create a short-term volume overload of the right cardiac cavities. The study has indicated that left cardiac dilatation, decreased ejection fraction, left ventricular diastolic dysfunction, and the presence of large focal portions of fibrosis in the ventricular myocardium, interventricular septum, and papillary muscles can be considered to be early Doppler echocardiographic signs of sarcoidosis of the heart in patients with PS.

[The significance of investigation of the left ventricle diastolic function in cardiosurgery].

An examination of 79 patients (main group) with congenital, acquired heart diseases and ischemic heart disease (IHD) without activity of the rheumatoid process and infectious endocarditis and 64 subjects of the same age has shown that in order to improve the assessment of the results of operative treatment of patients with the acquired heart disease and IHD it is necessary to test the diastolic function of the left ventricle (LV) in addition to the systole parameters. Cardiosurgical correction of pathological processes either causing or aggravating LV diastolic dysfunction (overloading LV with the volume or pressure, myocardium ischemia) can either eliminate or reduce its degree. A pathological monophasic filling of LV is a sign of a pronounced systole-diastolic dysfunction of LV and lung hypertension. A radical operative intervention reestablishes the biphasic filling of LV and reduces pressure in the pulmonary artery.

[Intraoperative ultrasonic scanning of extrahepatic bile ducts]. / Intraoperatsionnoe ul'trazvukovoe skanirovanie vnepechenochnykh zhelchnykh protokov.

The intraoperative ultrasonic investigation (IOUSI) of bile tracts was used during laparoscopic cholecystectomy for chronic (53 patients) and acute (25 patients) calculous cholecystitis and during 74 open operations in patients with mechanical jaundice. In half of the cases IOUSI was combined with intraoperative cholangiography (IOCG). A conclusion made on the basis of the clinical material suggests that IOUSI allows better assessment than IOCG of the state of the bile duct walls and pancreas head, the consistency of the duct content and can detect small (2-5 mm) concrements more exactly. However IOCG is more effective in determining the function of the bile tracts. So, the methods are thought to be not competing but mutually supplementing.

[Hemodynamic effects of contrast substances as dependent on their viscosity and osmolality]. / Zavisimost' gemodinamicheskikh éffektov rentgenokontrastnykh sredstv ot ikh viazkosti i osmolial'nosti.

This paper analyzes the current information on the role of viscosity and osmolality of the solutions of iodine-containing contrast substances used in angiology, in microcirculatory disorders due to angiography. Provides the data that confirm blood flow deceleration and the development of hypoxia during the use of more viscous dimeric substances. It is concluded that the change in microcirculation is an important indicator of the safety of modern iodine-containing contrast-diagnostic agents, among which the monomeric non-ionic substances possess an optimal combination of the high contrast and low osmolality.

[Cysts and cystoid formations of the neck: significance and possibilities of radiodiagnosis]. / Kisty i kistopodobnye obrazovaniia shei: znachenie i vozmozhnosti luchevoi diagnostiki.

The differential diagnosis of lateral cysts of the neck, metastatically altered lymph nodes and malignant tumors sometimes is difficult because their X-ray images as well as their clinical manifestations can be alike. The data of examination of 55 patients were analyzed. They included 43 cases of cysts of the neck (26 lateral and 17 median), 10 cases of cystically altered metastases into the lymph nodes, 2 cases of malignant tumors. The examination included US investigation (USI), computed tomography (CT), USI controlled aspiration biopsy. The diagnosis was histologically verified in 46 patients, in 7 cases the material was investigated cytologically. The "atypical" echographic picture was noted in 30.9% of cases with lateral cysts and in 23.6% of cases with median cysts. They had irregular shape, defective contours, echostructure of the tissues with repeated complications in anamnesis, weak "dorsal reinforcement". The clinical investigation of cases with lateral cysts was exact in 76.9%, with median cysts--in 82.4%. The USI examination was exact in 96.2% of cases with lateral cysts and in 94.1% with median cysts. CT was exact in 94.4% of cases with lateral cysts, and in 100% with median cysts. Thus, USI is thought to be necessary as the first step of X ray examination when cyst of the neck was suspected. Large sizes, spread of the cyst into deep areas and into the larynx lumen are considered as indications to CT. Both the echographic and computed tomography picture of the neck cysts depend on their localization, character of the content and the presence of inflammatory symptoms. The USI controlled aspiration biopsy can make the "atypical" USI picture of the mass nature more exact.

[Results of radiotherapy and combined, comprehensive treatment of pancreatic cancer]. / Rezul'taty luchevogo, kombinirovannogo i kompleksnogo lecheniia raka podzheludochnoi zhelezy.

The results of irradiation, combined and complex treatment of pancreatic cancer have been evaluated versus stage, site and extent of surgery. Radiotherapy was carried out in 63 patients (1988-1999): prior to gastropancreaticoduodenectomy (GPDE)--7; after GPDE--12; for local recurrence after GPDE--4, before and after left-sided resection--4, before and after conservative surgery--19, and after diagnostic verification (exploratory laparotomy or ultrasound-controlled fine-needle biopsy)--17. Diagnosis was established on the basis of clinical data and case histories, ultrasonographic, CT, histological, cytological, biopsy, blood serum-marker CA 19-9 and CEA findings. Two months after treatment, complete remission was registered in 5 (13%), partial response--5 (13%), stabilization--13 (33%), tumor progression--16 (41%). Before and after GPDE, tolerance to radiotherapy was sufficient. Median survival in this group was 12.9 months, controls--8.1 months; for conservative surgery--7.3 and 4.1 months, respectively; radiotherapy + exploratory laparotomy alone--16.8 and 4.3 months, respectively. Irradiation of locally-advanced tumors of the body and/or tail of pancreas proved effective: median survival was 7.3 months, control--2.2 months. Hence, radiotherapy made an important contribution to treatment of locally-advanced and resectable pancreatic tumors and longer survival.

[Significance of ultrasound examination and computed tomography in the diagnosis of pancreatic cancer]. / Znachenie ul'trazvukovogo issledovaniia i komp'iuternoi tomografii v diagnostike raka podzheludochnoi zhelezy.

The diagnostic sensitivity of USI for localization of a tumor of the pancreatic head was 89.3%, specificity--69.7%, exactness--84.4%. When the tumor was localized in the body-tail these indices were 85.7%, 73.4% and 78.7% respectively. The sensitivity of CT in cases when the localization of the tumor was in the head of the pancreas was 84.9%, specificity--72.2%, exactness--76.5%. When the tumors were localized in the body-tail these indices were 89.5%, 75.4% and 80.9% respectively. An associated analysis of information of the ultrasound and CT concerning the structure of the pancreas made the exactness of the diagnosis of malignization as high as 87.6%, specificity as high as 81.3%, sensitivity as high as 93.7%. The informative value of USI and CT depended on the tumor size, the presence of an inflammatory reaction of the pancreas, the character of a complication, if any, or of their combinations, localization and size of the pathological focus. In the investigation no alterations in the pancreas characteristic only of cancer were found. Thus, a comparison of diagnostic potentials of USI and CT has shown that one method does not exclude, but only supplements the other. CT gives more reliable results in the assessment of the process spread to the surrounding tissues and regional lymph nodes, especially when the tumor is localized in the area of the pancreas tail. USI helps to make more exact assessment of the involvement in the process of the common bile duct, pancreatic duct, and of the visceral vessels by the Doppler examination.

[Mechanisms of steroid osteoporosis development in patients with hormone-dependent bronchial asthma]. / Mekhanizmy razvitiia steroidnogo osteoporoza u bol'nykh gormonal'nozavisimoi bronkhial'noi astmoi.

AIM: To examine mechanisms of steroid osteoporosis development in patients with hormone-dependent bronchial asthma (BA). MATERIALS AND METHODS: The trial included 73 patients with hormone-dependent BA, 19 BA patients who have never taken oral steroid hormones and 15 healthy subjects. RESULTS: By computed tomography of the lumbar spine, bone tissue density in steroid-dependent BA was significantly decreased vs BA patients who were not treated with steroids. Osteopenia was discovered in 61.9% of the examinees who have received oral glucocorticoids. Development of osteopenia in this case was not dependent of the steroids dose and duration of the treatment. Patients with hormone-dependent BA vs healthy subjects had higher 24-h urine calcium excretion, normal levels of parathyroid hormones, calcitonin, low concentrations of 25-oxyvitamin D3, osteocalcin in the serum. Three subgroups of patients with osteopenia were identified according to the statistics: with prevalent resorption of bone tissues (24.1%), with low concentrations of vitamin D3 and osteocalcin (52.6%), with highly active resorption in combination with low vitamin D3 and weak function of osteoblasts (23.3%). CONCLUSION: Mechanisms of steroid osteoporosis development are heterogeneous. This should be considered in its treatment.

[Plasmapheresis in radiotherapy for pancreatic cancer]. / Plazmaferez pri luchevoi terapii raka podzheludochnoi zhelezy.

Although radiotherapy is known to improve the results of treatment for pancreatic carcinoma, its application is limited due to such side effects and complications as anemia, leuko-, thrombocytopenia and dyspeptic disorders. It was suggested that since these complications are primarily caused by radiotherapy itself and mass death of tumor cells, plasmapheresis might raise tolerance to radiation. This was confirmed by our experience with its use during radiotherapy course in 22 patients with pancreatic cancer.

[Radiologic diagnosis of outside-of-organs neck neoplasms]. / Luchevaia diagnostika vneorgannykh opukholei shei.

To evaluate the efficiency of ultrasound (US) and computed tomography (CT) in diagnosis of neck neoplasms, 36 patients with 26 benign and 8 malignant tumors were examined. Also, 32 US-guided fine needle aspiration biopsies (FNAB) were performed. Both US and CT showed high efficiency in detecting neck masses but not in different diagnosis, except for lymphomas. However, FNAB discriminated between benign and malignant tumors with a sensitivity of 75%, specificity--96% and accuracy--90.9%.

[Therapeutic potential of glucocorticoids inhalation in bronchial asthma]. / Terapevticheskie vozmozhnosti ingaliatsionnykh gliukokortikoidov pri bronkhial'noi astme.

AIM: To assess effectiveness and safety of inhalation glucocorticoids (budesonide, beklometasone dipropionate) in bronchial asthma (BA). MATERIALS AND METHODS: 19 BA patients (8 males and 11 females) inhaled glucocorticoids for 9 months. RESULTS: The treatment reduced the need in inhalation of short-acting beta-2-adrenomimetics, episodes of asphyxia occurred less frequently. A significant improvement of bronchial permeability was achieved only after 3 months of therapy. Blood levels of hydrocortisone, concentrations of magnesium, calcium and potassium in the serum, red cells and 24-h urine, serum osteocalcin, lumbar vertebral tissue density 3, 6 and 9 months after the treatment start were almost similar to the baseline. CONCLUSION: Glucocorticoids for inhalation are clinically effective in BA. They should be used for not less than 3 months. Topical steroids in mean therapeutic doses had no negative effects on the levels of hydrocortisone, mineral metabolism and bone tissue.

[Efficiency of calcium and vitamin D3 in the treatment of steroid osteoporosis in patients with hormone dependent bronchial asthma]. / Effektivnost' kal'tsiia i vitamina D3 v lechenii steroidnogo osteoporoza u bol'nykh gormonozavisimoi bronchial'noi astmoi.

AIM: To study effects of calcium (1000 mg/day) and vitamin D3 (Calcium-D3 Nikomed, 400 IN/day) in the treatment of steroid osteoporosis. MATERIALS AND METHODS: Calcium-D3 Nikomed was used in combined treatment of 20 patients with hormone-dependent bronchial asthma (BA) receiving glucocorticoid tablets in daily dose 5-40 mg (prednisolone calculation), mean dose 20.4 mg. Density of bone tissue was measured by CT of the lumbar spine (L2-L4), concentrations of osteocalcine and 25 (OH) vitamin D3--by radioimmunoassay, serum and 24-h urine calcium--by atomic-absorption spectrophotometry and selective ionometry. RESULTS: Calcium-D3 Nikomed intake for 6 months (2 tablets a day) resulted in decline of ossalgia, inhibition of bone tissue density loss, elevation of D3 vitamin 25 (OH) concentration in blood serum. Concentrations of osteocalcine, blood and 24-h urine calcium were close to the baseline. Therapeutic effect of physiological doses of vitamin D3 may be due to normalization of cholecalcipherol metabolism, activation of calcium intestinal absorption and suppression of bone resorption entailed by long-term administration of glucocorticoid tablets. CONCLUSION: High clinical efficiency and absence of side effects recommend calcium-D3 Nikomed for management of steroid osteoporosis in patients with hormone-dependent bronchial asthma.

[The effect of disorders of thrombocyte functional activity on the microcirculatory status in the lungs and on external respiratory function in patients with aspirin-induced asthma]. / Vliianie narushenii funktsional'noi aktivnosti trombotsitov na sostoianie mikrotsirkuliatsii v legkikh i funktsiiu vneshnego dykhaniia u bol'nykh aspirinovoi astmoi.

Platelet aggregation, pulmonary microcirculation and external respiration were studied against clinical appearance of the disease in 20 patients with aspirin-sensitive asthma (ASA) and 10 asthmatics without aspirin intolerance. All ASA patients were found to exhibit higher intensity and rate of platelet aggregation induced by ATP and heparin. Capillary pulmonary circulation in them was decreased 2-fold compared to nonaspirin asthma patients. All ASA cases had obstructive impairment of pulmonary ventilation in peripheral bronchi. The more serious were defects in platelet function, the more significant were microcirculatory and external respiratory alterations in ASA. Thus, it is evident that changes in platelet function play an important role in the genesis of pulmonary microcirculation and external respiration affections in ASA patients.

[Radiodiagnosis in the evaluation of lung dysfunction in bronchial asthma]. / Luchevaia diagnostika v otsenke disfunktsii lëgkikh pri pronkhialnoi astme.

A combined method of x-ray and radiologic examinations of the lungs revealed in asthmatics general disorders of the ventilation and perfusion with fine functional changes, presenting as local areas of asthmatic hyperinflation, anatomically involving separate segments or lobes of the lungs. Capillary circulation disorders develop here as well. Local swelling sites are characterized by a certain mobility: they may disappear and reappear in different lung segments. The functional potentialities of the diaphragm are virtually always reduced.