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Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not diagnosed until adulthood. The prevalence and mean age of recognition and/or onset of clinical manifestations within our cohort were infections 88%/1.6 years, neutropenia 98%/3.8 years, lymphopenia 88%/5.0 years, and warts 40%/12.1 years. However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years versus 78%, average age 5 years, respectively). Patients with a family history of WHIM syndrome also received earlier treatment, experienced less hospitalization, and had less end-organ damage. This observation reinforces previous reports that early treatment for WHIM syndrome improves outcomes. Only one patient died; death was attributed to complications of hematopoietic stem cell transplantation. The variable expressivity of WHIM syndrome in pediatric patients delays their diagnosis and therapy. Early-onset bacterial infections with severe neutropenia and/or lymphopenia should prompt genetic testing for WHIM syndrome, even in the absence of warts.

Objective This study determines the differences in the distal gut and vaginal microbiome in African American (AA) women by prepregnancy body mass index and gestational weight gain (GWG) comparing women with and without obesity and by obesity class. Study Design We prospectively sampled the vaginal and distal gut microbiome in pregnant AA women at two time points during pregnancy. Samples were analyzed using high-throughput sequencing of the V4 region of the 16S ribosomal ribonucleic acid gene. Results Distinct differences in vaginal and distal gut α-diversity were observed at time point 1 between women with and without obesity by total GWG. Significant differences in distal gut β-diversity were also found at time point 1 in obese women by GWG. Within the Bacteroides genus, a significant association was observed by total GWG among obese women which was absent in nonobese women. Women with class III obesity who experienced low GWG had the lowest abundance of distal gut Bacteroides and appreciably higher relative abundance of a consortia of vaginal taxa including Atopobium, Gardnerella, Prevotella, and Sneathia. Conclusion These results contribute new evidence showing that GWG in combination with obesity and obesity class is associated with an altered distal gut and vaginal composition early in pregnancy among AA women.

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibrin (NBN) gene (c.657_661del5, p.K219fsX19) with a founder effect observed in Caucasian European populations, especially of Slavic origin. We present here an analysis of a cohort of 136 NBS patients of Eastern Slav origin across Belarus, Ukraine, Russia, and Latvia with a focus on understanding the geographic distribution, incidence of malignancy, and treatment outcomes of this cohort. Our analysis shows that Belarus had the highest prevalence of NBS (2.3 per 1,000,000), followed by Ukraine (1.3 per 1,000,000), and Russia (0.7 per 1,000,000). Of note, the highest concentration of NBS cases was observed in the western regions of Belarus and Ukraine, where NBS prevalence exceeds 20 cases per 1,000,000 people, suggesting the presence of an “Eastern Slavic NBS hot spot.” The median age at diagnosis of this cohort ranged from 4 to 5 years, and delay in diagnosis was more pervasive in smaller cities and rural regions. A total of 62 (45%) patients developed malignancies, more commonly in males than females (55.2 vs. 34.2%; p=0.017). In 27 patients, NBS was diagnosed following the onset of malignancies (mean age: 8 years). Malignancies were mostly of lymphoid origin and predominantly non-Hodgkin lymphoma (NHL) (n=42, 68%); 38% of patients had diffuse large B-cell lymphoma. The 20-year overall survival rate of patients with malignancy was 24%. However, females with cancer experienced poorer event-free survival rates than males (16.6% vs. 46.8%, p=0.036). Of 136 NBS patients, 13 underwent hematopoietic stem cell transplantation (HSCT) with an overall survival of 3.5 years following treatment (range: 1 to 14 years). Indications for HSCT included malignancy (n=7) and immunodeficiency (n=6). Overall, 9% of patients in this cohort reached adulthood. Adult survivors reported diminished quality of life with significant physical and cognitive impairments. Our study highlights the need to improve timely diagnosis and clinical management of NBS among Eastern Slavs. Genetic counseling and screening should be offered to individuals with a family history of NBS, especially in hot spot regions. © Copyright © 2021 Sharapova, Pashchenko, Bondarenko, Vakhlyarskaya, Prokofjeva, Fedorova, Savchak, Mareika, Valiev, Popa, Tuzankina, Vlasova, Sakovich, Polyakova, Rumiantseva, Naumchik, Kulyova, Aleshkevich, Golovataya, Minakovskaya, Belevtsev, Latysheva, Latysheva, Beznoshchenko, Akopyan, Makukh, Kozlova, Varabyou, Ballow, Ong, Walter, Kondratenko, Kostyuchenko and Aleinikova. We thank all doctors for clinical help for patients. We also appreciate the support of patient and their parents for agreeing to take part in this study. TP thanks Sergey?Nikulshin, Marika Grutupa, and Zanna Kovalova. We thank Joseph Dasso for editing this manuscript, primarily for proper English.

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibrin (NBN) gene (c.657_661del5, p.K219fsX19) with a founder effect observed in Caucasian European populations, especially of Slavic origin. We present here an analysis of a cohort of 136 NBS patients of Eastern Slav origin across Belarus, Ukraine, Russia, and Latvia with a focus on understanding the geographic distribution, incidence of malignancy, and treatment outcomes of this cohort. Our analysis shows that Belarus had the highest prevalence of NBS (2.3 per 1,000,000), followed by Ukraine (1.3 per 1,000,000), and Russia (0.7 per 1,000,000). Of note, the highest concentration of NBS cases was observed in the western regions of Belarus and Ukraine, where NBS prevalence exceeds 20 cases per 1,000,000 people, suggesting the presence of an “Eastern Slavic NBS hot spot.” The median age at diagnosis of this cohort ranged from 4 to 5 years, and delay in diagnosis was more pervasive in smaller cities and rural regions. A total of 62 (45%) patients developed malignancies, more commonly in males than females (55.2 vs. 34.2%; p=0.017). In 27 patients, NBS was diagnosed following the onset of malignancies (mean age: 8 years). Malignancies were mostly of lymphoid origin and predominantly non-Hodgkin lymphoma (NHL) (n=42, 68%); 38% of patients had diffuse large B-cell lymphoma. The 20-year overall survival rate of patients with malignancy was 24%. However, females with cancer experienced poorer event-free survival rates than males (16.6% vs. 46.8%, p=0.036). Of 136 NBS patients, 13 underwent hematopoietic stem cell transplantation (HSCT) with an overall survival of 3.5 years following treatment (range: 1 to 14 years). Indications for HSCT included malignancy (n=7) and immunodeficiency (n=6). Overall, 9% of patients in this cohort reached adulthood. Adult survivors reported diminished quality of life with significant physical and cognitive impairments. Our study highlights the need to improve timely diagnosis and clinical management of NBS among Eastern Slavs. Genetic counseling and screening should be offered to individuals with a family history of NBS, especially in hot spot regions.

FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of Tcell receptor excision circles (TRECs) and Tcell lymphopenia at birth, who carried heterozygous loss-of-function FOXN1 variants. Longitudinal analysis showed persistent Tcell lymphopenia during infancy, often associated with nail dystrophy. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cellcounts. We hypothesized a FOXN1 gene dosage effect on the function of thymic epithelial cells (TECs) and thymopoiesis and postulated that these effects would be more prominent early in life. To test this hypothesis, we analyzed TEC subset frequency and phenotype, early thymic progenitor (ETP) cell count, and expression of FOXN1 target genes (Ccl25, Cxcl12, Dll4, Scf, Psmb11, Prss16, and Cd83) in Foxn1nu/+ (nu/+) mice and age-matched wild-type (+/+) littermate controls. Both the frequency and the absolute count of ETP were significantly reduced in nu/+ mice up to 3weeks of age. Analysis of the TEC compartment showed reduced expression of FOXN1 target genes and delayed maturation of the medullary TEC compartment in nu/+ mice. These observations establish a FOXN1 gene dosage effect on thymic function and identify FOXN1 haploinsufficiency as an important genetic determinant of Tcell lymphopenia at birth.

Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case of a child with coexistent AT and trisomy X (47,XXX). We used fluorescent in situ hybridization (FISH) to confirm that this person had 47,XXX karyotype in blood cells, bone marrow, fibroblasts, and buccal smear. Standard cytogenetic studies (not banded) were conducted on blood cells. G-banding analysis was performed on bone marrow cells at the time of the leukemia diagnosis. Flow cytometric investigation of lymphocytes and Sanger sequencing of the ATM gene were used for diagnosis confirmation and description. We report the case of an 11-year-old girl at remission after having T cell acute leukemia for 7 years with progressive signs of ataxia-telangiectasia and with additional X chromosome since birth. At the age of 2 years and 7 months, she was diagnosed with pre-T acute leukemia. From the age of four, she had gait abnormalities. AT was established at the age of seven based on clinical signs and laboratory findings (increased alpha fetoprotein-AFP [227]) and confirmed by detecting compound heterozygous truncating mutations in the ATM gene (p.Y705X and p.L2312I). These genetic findings have not been previously reported in AT and our "double hit" case demonstrates the value of careful clinical evaluation of children with an established genetic diagnosis. Measurement of AFP levels should be considered in patients with neurologic abnormalities after leukemia treatment.

Here we describe a 10-year-old girl with combined immunodeficiency presenting as recurring chest infections, lung disease and herpetic skin infections. The patient experienced two hematopoietic stem cell transplantations and despite full chimerism, she developed bone marrow aplasia due to adenovirus infection and died at post-transplant day 86. Immunologic investigation revealed low numbers of TRECs/KRECs, a severe reduction of memory B cells, absence of isohemagglutinins, and low IgG levels. Whole exome sequencing (WES) identified a novel heterozygous mutation in RAC2(c.275A > C, p.N92 T). Flow cytometric investigation of neutrophil migration demonstrated an absence of chemotaxis to fMLP. Cell lines transfected with RAC2 [N92 T] displayed characteristics of active GTP-bound RAC2 including enhanced NADPH oxidase-derived superoxide production both at rest and in response to PMA. Our findings broaden the clinical picture of RAC2 dysfunction, showing that some individuals can present with a combined immunodeficiency later in childhood rather than a congenital neutrophil disease.

Objectives Our purpose was to identify the incidence and significance of markers of systemic connective tissue abnormalities (CTA) in patients with saccular intracranial aneurysms (SIA). Materials and methods This prospective case–control study included 199 consecutive patients with SIA (103 women and 96 men, mean age – 43.2 years) and 194 control patients – blood donors (108 – men, 86 – women, mean age – 38.4 years). Aneurysms were verified by conventional cerebral angiography. All patients were examined by the first author using a specially designed questionnaire and a standardized physical examination with special emphasis on systemic CTA. Results Twelve markers of systemic CTA were significantly higher in patients with SIA than in controls: visible vessels on face and chest (59.8%), scoliosis (44.7%), varicose veins in legs (39.7%), flatfoot (34.6%), hyperextensibility of the skin (33.6%), spontaneous epistaxis (25.6%), easy bruising (20.6%), abdominal hernia (13.6%), periodontal disease (10.5%), chest deformations (7.5%), abdominal striae (3.5%), joint hypermobility (2.5%). A blinded validation study in a subset of 43 patients showed similar results. Among patients with SIA, 125 of 199 patients (62.8%) had at least three markers of systemic CTA compared with 23 (11.8%) of the controls (P

Background and Purpose—Genomewide DNA linkage analysis identified a susceptibility locus for intracranial aneurysm (IA) on chromosome 19q13 in the Finnish population, a region including the kallikrein gene cluster. We investigated the association of single nucleotide polymorphisms (SNPs) in the kallikrein gene cluster with IA in the Finnish population.Methods—We genotyped 18 haplotype-tagging SNPs spanning a 244 kbp region in the kallikrein gene cluster for 266 Finnish IA cases and 290 Finnish control subjects. In a second phase, we genotyped 2 SNPs (rs1722561 and rs1701946) in an additional set of 102 Finnish IA cases and 102 Finnish control subjects; and in a third phase, we genotyped these 2 SNPs in 156 Russian IA cases and 186 Russian control subjects. Both single-marker and haplotype-based tests of association were performed.Results—In phase I, SNPs rs1722561 and rs1701946 were significantly associated with IA in the Finnish population for single locus models (rs1722561:P=0.0395; rs1701946:P=0.0253). A 2-SNP haplotype block (rs1722561–rs1701946) identified in phase I was also associated with IA in the expanded Finnish (phase II) data set (asymptoticP=0.012; empiricalP=0.019). In the Finnish and Russian combined data set (phase III) with 524 cases and 578 control subjects, the same 2 SNPs (OR: 1.35, 95% CI: 1.14, 1.60;P=0.0005 for rs1722561 and OR: 1.32, 95% CI: 1.12, 1.57;P=0.0011 for rs1701946) were significantly associated with IA. These SNPs are located in the intronic region ofKLK8, although linkage disequilibrium could extend from rs268912–rs2250066, a ≈76-kbp region that includes KLK5–KLK10.Conclusions—Polymorphisms within the kallikrein gene cluster are associated with IA suggesting that the kallikreins are important candidate genes for IA.

We present a case of 12-month-old boy with congenitally corrected transposition of great arteries with L-looped ventricles and L-transposition of great arteries and ventricular septal defect. When admitted to the hospital, the patient had the appearance of congestive heart failure due to moderate to severe tricuspid valve regurgitation and right ventricle dysfunction. The pulmonary artery (PA) banding was required first because of low systolic pressure in the morphological left ventricle less than 70% confirmed by catheterization. Three months later, the patient appeared to be a good candidate for anatomical repair and a double switch procedure-Senning with arterial switch-was performed. The early postoperative period was relatively smooth and uneventful. Tricuspid valve insufficiency was resolved immediately after surgery. Mild systolic dysfunction of the left ventricle with mild mitral insufficiency was confirmed by the 2D strain method of echocardiography on the second day of the postoperative period and it improved over the next 21 days. Thirty days later after the procedure, the patient underwent catheterization of his superior vena cava tunnel because of the slightly increased blood flow velocity diagnosed by echocardiography. In 3 months after the surgery, the boy was asymptomatic and was doing well. The patient's functional status was I according to the NYHA classification.

Unruptured saccular intracranial aneurysm (SIA) is associated with an increased prevalence of migraine, but it is unclear whether this is altered by clipping of the aneurysm. The aim of our study was to determine whether remission rate of migraine and other recurrent headaches was greater in patients with SIA after clipping than in controls.We prospectively studied 87 SIA patients with migraine or other recurrent headaches. They were interviewed about headaches in the preceding year before and 1 year after clipping using a validated semi-structured neurologist conducted interview. The remission rates of migraine and tension-type headache (TTH) in these patients were compared to 92 patients from a headache center. Diagnoses were made according to the ICHD-2.During 1 year preceding rupture 51 patients with SIA had migraine. During the year after clipping, this was reduced by 74.5% (P0.0001). At first encounter, 47 control patients had migraine during the preceding year, and during 1 year of treatment, it was 41, a reduction 12.8% (P0.5). The decrease of migraine in SIA patients was significantly higher than in controls: 74.5% vs 12.8% (P0.001). A history of TTH was given by 33 patients with SIA during the year preceding rupture and by 44 during 1 year after clipping (P0.75). Forty-one control patients had TTH, 27 after 1 year of treatment, a reduction 34.1% (P0.05). No factors except clipping of the aneurysm could explain the remission of migraine.Migraine prevalence in patients with SIA decreases significantly after clipping. Further comparative studies of migraine after coiling vs clipping in SIA patients are needed.

The aim of this study was to assess the impact of the extent of brain white matter lesions on the development of cognitive and psychoemotional disorders, and to investigate correlations between the degree of integration of brain pathway structures and the clinical features of epilepsy.Forty-six epileptic patients (36 with pharmacoresistant epilepsy and 10 who had been in remission for over a year) and 10 normal volunteers (the control group) were examined. To evaluate diffusion tensor MRI findings, the index of fractional anisotropy (FA) and index of apparent diffusion coefficient (ADC) were used. For an intergroup comparison of DTI data, the Mann-Whitney test was used, criterion; correlation analysis was performed using the Spearman rank correlation coefficient. The threshold of statistical significance was set at р0.05.A significant difference was noted in the ADC data on the side of the epileptic focus in the patients in persistent remission as compared to the pharmacoresistant patients (р0.05). No differences were found between the patient groups' fractional anisotropy data. In cases of mesial temporal sclerosis in patients with pharmacoresistant epilepsy, a "weakening" of the tractography pattern in the opposite hemisphere was found (r = 0.66, p = 0.0005). Decreases in the tracts appearing in brain temporal lobes was typical of patients with pharmacoresistant forms of epilepsy (r = 0.46, p = 0.0005). A pathological decrease in FA and an increase in ADC correlated with the results on the Beck scale and the Spielberger-Khanin anxiety scale (r = -0.2, p0.001) as well as with P300 peak latency data (r = 0.23, p0.001). Analyses of the peculiarities of EEG patterns and FA data demonstrated a correlation between the existence of epileptic activity and a decrease in FA (r = -0.7, t = -2.44, p = 0.01).Microstructural brain matter changes make it possible to assess the course of epilepsy to predict the outcomes of medicamental correction of paroxysmal states.

The clinical significance and potential of respiratory tests for diagnostics of Helicobacter pylori infection was estimated in 76 patients. Results of 13C and 14C-urease tests were in especially good agreement with those oh histological studies. The 13C-urease test should be preferred in the examination of both in-patients and out-patients whereas NH3-urease test is much inferior to 13C and 14C-urease tests in terms of informative value.

We present analysis of a case history of a patient with rare congenital heart disorder - Bland-White-Garland syndrome. The 25 years old women was first diagnosed with this disorder during an examination in the cardiological department of the Moscow clinical hospital No83. The paper contains discussion of difficulties of diagnosis and peculiarities of management of adults with this pathology as well as of a problem of the choice of further therapeutic approaches.

The article considers a number of ways of optimizing arterial hemodynamics including finding of the best value of capillary resistance or coefficient of elasticity.

With the help of a simple model of arterial hemodynamics as an example, the authors demonstrate it that dynamics of arterial pressure including the top and lower pressure values, systole-diastole length ratio, and coefficients of arterial and capillary elasticity can be obtained as an optimal solution of the problem of maintaining appropriate intensity of oxygen ingress in body tissues despite minimal "physiological" ability of the heart.

In the analysis of the required radiation shielding protection of spacecraft during a Mars flight, specific effects of solar activity (SA) on the intensity of galactic and solar cosmic rays were taken into consideration. Three spaceflight periods were considered: (1) maximum SA; (2) minimum SA; and (3) intermediate SA, when intensities of both galactic and solar cosmic rays are moderately high. Scenarios of spaceflights utilizing liquid-propellant rocket engines, low- and intermediate-thrust nuclear electrojet engines, and nuclear rocket engines, all of which have been designed in the Soviet Union, are reviewed. Calculations were performed on the basis of a set of standards for radiation protection approved by the U.S.S.R. State Committee for Standards. It was found that the lowest estimated mass of a Mars spacecraft, including the radiation shielding mass, obtained using a combination of a liquid propellant engine with low and intermediate thrust nuclear electrojet engines, would be 500-550 metric tons.

An aim of the study was to compare frequencies of vascular diseases in first-degree relatives (FDR) of patients with intracranial aneurysms (IA) and FDR of controls. Pedigrees have been selected through interviews in 194 patients with IA (96 men and 98 women) and in 193 age- and sex-matched controls. Only FDR with complete information about their disorders have been included in the study: 1011 FDR of patients with IA and 812 controls. The frequency of strokes was 2.5 times and hemorrhages --3.7 times higher in FDR of patients with IA compared to controls. Only 0.9% of FDR of patients with IA had the rupture of intracranial aneurysm. The frequency of headaches was 2.8 times, ischemic heart disease--2.7 times and arterial hypertension --2 times greater in FDR of patients with IA compared to controls. Moreover, sudden death occurred 5.8 times more often in FDR of patients with IA. The data obtained suggest that vascular defects leading to the development of IA may be, in part, genetically determined. Prevention of stroke and cardiovascular disease is necessary for FDR of patients with IA.

An aim of the study was to compare by the analysis of pedigrees the frequency of vascular pathology in first-degree relatives (FDR) of patients with intracranial aneurysms (IA) and controls. Pedigrees were selected by interviewing 194 patients with IA (94 men and 100 women) and 193 age- and sex-matched control patients. Only FDR with complete information about their health status were included: 1011 FDR of patients with IA and 812 FDR of controls. The results of the study revealed that the frequency of strokes was 2.5 times higher in FDR of patients with IA than in those of controls: 6.5% and 2.6%, respectively (RR = 2.52, 95% CI = 1.56-4.09). Hemorrhages occurred 3.7 times more often in FDR of patients with IA than in FDR of controls: 3.4% versus 0.9% (RR = 3.90, 95% CI = 1.74-8.75). Only 0.9% of FDR of patients with IA had the rupture of intracranial aneurysm compared with nobody in FDR of controls. The frequency of headaches was 2.8 times greater in FDR of patients with IA than in those of controls: 19.6% versus 7.1% (RR = 2.74, 95% CI = 2.08-3.62). FDR of patients with IA suffered from arterial hypertension 2 times more often than FDR of controls: 24.9% and 11.6%, respectively (RR = 2.15, 95% CI = 1.73-2.68). Coronary heart disease was 2.7 times more frequent in FDR of patients with IA than in controls: 8.9% and 3.3%, respectively (RR = 2.68, 95% CI = 1.76-4.07). Sudden death occurred in FDR of patients with IA 5.8 times more often than FDR of controls: 11.1% and 1.9%, respectively (RR = 5.68, 95% CI = 1.37-23.39). Thus, vascular pathology occurs relatively often in FDR of patients with IA implying that vascular defects which cause the development of IA may be, at least in part, genetically determined. Prevention of stroke and cardiovascular disease is necessary for FDR of patients with IA.

The distribution of allele and genotype frequencies of the Alu-insertion polymorphism of the angiotensin-converting enzyme (ACE) gene and missence mutations leading to the substitution of arginine to cysteine in positions 112 and 158 of apolipoprotein E (APOE) has been studied in 166 patients with brain intracranial aneurysms and in 192 controls of Russian origin from Ural region. Brain vascular aneurysms with hypertension were associated with the D*D* ACE genotype in men and with the e2 allele and the e2/e3 APOE genotype in women. The association was also observed between the e2 allele and the e2/e3 APOE genotype and family history of stroke, hemorrhages and aneurysms in patients. Men with the I*D* ACE genotype and the e4 APOE allele were at lower risk.

Atomic emission multichannel special device involves sensitive methods to determine levels of cadmium, copper, lead and zinc in human serum, of cobalt, manganese, copper and nickel in human urine. Those methods could be applied in laboratories providing toxicologic and hygienic research.

In 2001-2002, the authors performed a course of brachytherapy in 15 patients with inoperable primary, recurrent, and metastatic brain tumors. The histostructural distribution was as follows: low-grade astrocytoma (grade II according to the WHO classification) in 2 patients, anaplastic astrocytoma (AA) in 3, glioblastoma multiforme (GBM) in 5. Five patients had solid tumor deposits in the brain. Computer tomographic (CT) and magnetic resonance imaging (MRI) data were used to define a path for forthcoming biopsy and implantation at a "Stryker" navigation station, by taking into account the anatomy of the brain, vessels, and functionally significant areas. After having histological findings, plastic intrastats whose number had been determined by the volume of a target were implanted into a tumor by the predetermined path. Dosimetric planning was accomplished by using CT and MRI images on an "Abacus" system. The final stage involved irradiation on a "GammaMed plus" with a source of 192Ir. Irradiation was given, by hyperfractionating its dose (3-4 Gy twice daily at an interval of 4-5 hours) to the total focal dose (TFD) of 36-44 Gy. Patients with gliomas untreated with radiation also underwent external radiation in a TFD of 54-56 Gy and patients with brain metastases received total external irradiation of the brain in a TFD of 36-40 Gy. The tolerance of a course of irradiation was fair. In patients with AA and GBM, one-year survival was observed in 66 and 60%, respectively; in those having metastasis, it was in 20%. Six patients died from progressive disease. All patients with low-grade astrocytoma and one patient with anaplastic astrocytoma were alive at month 24 after treatment termination. The mean lifespan of patients with malignant gliomas and solid tumor metastasis was 11.5 and 5.8 months, respectively. Brachytherapy is a noninvasive and tolerable mode of radiotherapy that increases survival in some groups of patients with inoperable brain tumors.

Malignant transformation of cardiac myxoma is poorly described in the literature. A case of diagnosis of cardiac angiofibroliposarcoma of the heart which developed after removal of the left atrial myxoma is described.

In the past decade, there has been a clear trend for the use of low-invasive surgical interventions in many divisions of neurosurgery. Since each operation is bound to be followed by tissue traumatization, a decrease in the sizes of skull trepanation should be regarded as a way of reducing the incidence of intra- and extracranial complications. The proposed variant of a pterion access to intracranial aneurysms by using small trepanation holes may substantially decrease the duration of surgical interventions and to avoid postoperative epidural and subdural hematomas without preventing the visualization of arteries in both anterior and posterior Willis' circle and at the same time the variant exerts no negative effect on the possibilities of hemostasis in intraoperative aneurysm rupture. The operation yields a good cosmetic effect.

The authors show that aneurysmic diverticula of cerebral vascular walls cam grow in size and to develop, with time, into true saccular aneurysms. Cases of aneurysmic diverticula transformation into aneurysms illustrate dynamic pattern of aneurysmogenesis and formation of this pathology during life. Feasibility of the growth and rupture of the aneurysm in intracranial hemorrhage dictates necessity of follow-up visualizations of cerebral vessels in such patients (contrast angiography, NMR angiography).

Progress of information and telecommunication technologies, rapid development of local computer networks and their incorporation into the global computer network Internet are of great importance for the development of modern civilization. Internet presents all spheres of human activities, including medicine, neurosurgery in particular. It is the most available resource that has an unlimited amount of information, expands and is supplemented in geometric progression. A great deal of specialized neurosurgical information has been accumulated in the network that may be available to any neurosurgeon irrespective of the geographical region. There has come a time when information can be obtained through progress in telecommunication technologies that accelerate this process by hundreds of times, there has come a time when colleagues can actively contact with each other by transmitting not only verbal and textual information, but also graphic and video information. The present paper presents a review of currently available Internet neurosurgical resources by showing the benefits of this information source and the possibilities of its use in neurosurgery for both educational and scientific purposes.

The study of identical twins revealed an important role of hereditary factors in the development of cerebral aneurysms. The "weakness" of connective tissue, caused by some genetic (or polygenic) defects, concurrent with several acquired conditions (essential hypertension, connective tissue disorders) leads to the development and rupture of cerebral aneurysms.

J. Raven's (1992) classification was used in the treatment of patients with multiple fractures of the face associated with contusions, brain concussions, and injuries to the skull vault and base. According to this classification, all injuries of the cerebral and facial skull are classified as types I, II, and subtype Ia. Use of this classification became possible due to introduction of computer-aided tomography. A clinical example of a possible surgical correction of the orbit in a patient with type II fracture is presented.

The model is based on classical ideas about of hemopoiesis in normal conditions and under irradiation. It consists of only two equations characterizing stem and differentiated bone marrow cell dynamics. The systemic mechanisms of hemopoiesis regulation were roughly taken into account. The formulae suitable for calculations of equilibrium cell concentrations under prolonged irradiation were derived. The model was shown to be in agreement with experimental data on hemopoietic system changes under acute and prolonged irradiation of rodents and dogs. The model is intended for describing the extent of hemopoiesis disturbance under those modes of mammalian exposure when describing of general regularities is enough.

Composition and structure of more than 50 sialoliths were examined to optimize the treatment of sialolithiasis. Infrared spectroscopy, x-ray phase analysis, optic and electron microscopy were used in examinations. The concrements consist of organic and mineral substances, the former ones predominating. Mineral phase is represented mainly by carbonate-containing hydroxylapatite. The structure of the concrements is concentrically lamellar, in some of them the mineral phase predominates in the central parts of stones, in others in the peripheral parts; stones with regular distribution of the mineral phase along the stone section are quite frequent. The authors conclude that search for the optimal parameters of hypershock exposure to disintegrate the concrements is going to be rather difficult because of the complexity of their structure. They distinguish two trends of this research: (1) specification of the optimal parameters of hypershock exposure and (2) combination of hypershock wave exposure and litholytic solutions.

Phonoangiography was conducted in 113 patients with various diseases of the brain. From comparison of the findings of clinical and angiographic examination the authors defined typical phonoangiographic criteria for the diagnosis of arterial and arteriovenous aneurysms of the brain which can be used in out- and inpatient practice.

The method of automatic registration and of the analysis of neutrophils' mobility with the use of the Image Analysis System is described in this paper. The authors developed an algorithm of cells identification which makes it possible to carry out cadre-by-cadre observing the shift of each cell's centre of gravity with the time interval between cadres more than 15 seconds. This algorithm also allows to measure areas, perimeters and orientation of cells and their changes. Looking after the shifts of the cells' centres of gravity allows to describe the cells' paths in the form of the following dependences: path-by-time, shift-by-time, angle of vector of shift alteration. Observing a great number of cells at the same time allows to get true statistical picture of neutrophils' activity and distribution of cells' activity in population of neutrophils during only some minutes of registration. It is shown that each cell in the population has its own constant velocity.

Immunologic analysis of blood serum of 40 patients with purulent keratitis has shown disturbances in T- and B-systems of immunity, especially in moderate and severe degrees of the disease. This dictates a necessity of further studies in this direction by using immunocorrective therapy.

Space radiation is the primary source of hazard for orbital and interplanetary space flight. Radiation levels for different space mission durations, have been established in order to determine the level of hazard. The risk of exceeding the established levels should not be more than 1%. Radiation environment models have been developed to estimate these values. It is possible to build spacecraft shielding based on the calculation of doses and the risk of exceeding these. By reviewing various calculated estimates of the risk, the radiation hazard and the efficiency of protective measures can be established for specific flights.

This paper considers the possibility of characterizing space flight radiation safety, using a value which is integrated over the flight time, takes into account the radiation processes in an irradiated body and averages the probability of adverse radiobiological effects with respect to the distribution of solar proton flares of varying intensity. The proposed characteristic is compared with the current standards with reference to a hypothetic interplanetary flight.