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Purpose: to study the contribution of perfusion iodine maps to diagnosis of acute pulmonary embolism (PE) and compare pulmonary perfusion defects with the main imaging biomarkers of PE.Materials and methods. 130 patients with suspected acute pulmonary thromboembolism were studied using pulmonary computed tomographic angiography with perfusion iodine map`s analysis. Pulmonary embolism was revealed in 42 cases. There were evaluated: the number and level of vessel occlusion (Qanadli index), number and grades of lung perfusion defects on perfusion iodine maps (perfusion index), signs of right heart failure, changes of lung parenchyma.Results. Analysis of the data showed a strong correlation between the index Qanadli and perfusion index, rather than signs of right failure. In 3 cases, the segmental and subsegmential pulmonary embolism was revealed form the iodine map’s analysis only.Conclusion. Thus, perfusion iodine maps improve the diagnosis of acute pulmonary embolism due to characterizing the changes of pulmonary microcirculation. From our data, the iodine maps can be employed as a prognostic tool for further therapy.

The concept of “contrast-induced acute renal injury” (CI-AKI) is an increase in the level of plasma creatinine, recorded within 48 hours after contrast drug administration. This condition is the third most common cause of chronic renal failure occurring in a hospital. Despite the rather frequent occurrence of this phenomenon, it is not completely clear whether all such cases can really be explained by the exceptionally wide spread of procedures with contrast agent administration, because a decrease in kidney function is often found in inpatient patients. Since there is no treatment for CI-AKI, many groups of scientists have attempted to develop a prevention regimen. However, such measures are fraught with a number of difficulties: possible consequences for patients, logistical difficulties in a medical institution, costs of funds. The effectiveness of these measures has also not been unequivocally proven. In particular, in the course of a large AMACING study, it was shown that hydration does not reduce the likelihood of developing CI-AKI, but significantly increases the patient's treatment costs and can cause specific complications. In addition, there is a lot of literature evidence in favor of the fact that the hydration technique is effective for preventing a decrease in kidney function only in patients who have undergone intra-arterial administration of a contrast agent. Thus, the need for drug prevention of CI-AKI is currently being questioned, research in this area is actively continuing.

Presurgical brain mapping of language-eloquent cortex aims to minimize its injury during neurosurgery in patients with brain tumors and drug-resistant epilepsy, and thereby, to preserve their quality of life. Two main goals of language mapping are to identify the localization and lateralization of brain regions involved in language. Gold standards for them are the intraoperative mapping and Wada test, respectively; however, due to some limitations of these techniques, non-invasive preliminary language mapping becomes reasonable. During the last years, fMRI has been widely applied for such purposes. Our literature review focuses on innovations and actual tendencies which spread in the field of language mapping via fMRI in the last decade. State-of-the-art knowledge on brain organization of language, which underpins brain mapping of language processing via fMRI, is briefly described in the article. Contemporary studies of fMRI validity in localization and lateralization of language brain regions are considered. Strategies of presurgical language mapping, such as application of tractography in addition to fMRI, combined analysis of fMRI tasks as well as resting-state fMRI are also discussed. Well-established fMRI tasks for brain mapping of language production and comprehension, as well as new experimental developments in this field, are listed and described.

Congenital portosystemic shunts (CPSS) are rare congenital vascular anomalies associated with partial or complete diversion of the portal blood into the systemic circulation. Congenital extrahepatic portosystemic shunts (CEPSS) are termed Abernethy malformation. This pathology is a diagnostic challenge due to its low incidence and variable clinical presentations. We report a case of Abernethy malformation Type Ib in a 15-year-old male with a long-standing history of high arterial blood pressure, recurrent nose bleeds, chest pain, dizziness, shortness of breath, low exercise tolerance, blood in the stool, vague epigastric pain, nausea, and itching. Imaging studies revealed a dilated portal vein conduit flowing directly into inferior vena cava (IVC), bypassing porta hepatis. Among other findings were multiple liver nodules, dilatation of heart chambers, myocardial hypertrophy, and pulmonary hypertension. Because of the severity of patients symptoms, and shunt anatomy, liver transplantation was recommended after multidisciplinary panel consultations. Diagnostic algorithm and other treatment options are discussed as well.

To evaluate clinical manifestations and outcomes of Fabry disease (FD) in adult patients in the Russian population.

BACKGROUND : Several COVID-19 patients are subjected to multiple imaging examinations during hospitalization, the cumulative effect of which can significantly increase the total dose of radiation received. The effective radiation dose can be reduced by lowering the current and voltage of the X-ray tube, but this reduces image quality. One possible solution is to use adaptive statistical iterative reconstruction technology on the «raw» CT data. Recently, data on the efficacy of low-dose CT (LDCT) in the diagnosis of COVID-19 have appeared in the literature. AIM : To analyze the quality and diagnostic value of LDCT images of the lungs after applying an iterative processing algorithm and to assess the possibility of reducing the radiation load on the patient when diagnosing COVID-19. MATERIALS AND METHODS : Patients from the Infectious Diseases Department of the Moscow State University Hospital participated in the prospective study. CT examinations were performed at the time of patient admission and discharge and were repeated as needed during hospitalization. In the first study, a standard CT protocol with a tube voltage of 120 kV and automatic current modulation in the range of 200–400 mA was used; in repeated CT scans, the LDCT protocol was used with reduced tube voltage parameters (100 or 110 kV) and automatic current modulation in the range of 40–120 mA. To assess the diagnostic value of LDCT in comparison with standard CT, a survey was conducted among doctors from the Department of Radiation Diagnostics at Moscow State University Hospital. The questionnaire included a comparison of the two methods for identifying the following pathological processes: «ground-glass» opacities, compaction of the lung tissue with reticular changes, areas of lung tissue consolidation, and lymphadenopathy. RESULTS : The study included 151 patients. The average age was 58±14.2 years, with men accounting for 53.6% of the population. During LDCT the radiation load was reduced by 2.96 times on average, CTDI by 2.6 times, DLP by 3.1 times, the current on the tube by 1.83 times, and the voltage on the tube by 1.2 times. The results indicate that the effectiveness of detecting the main signs of viral pneumonia and assessing the dynamics of the patient’s condition does not differ significantly from CT performed according to the standard protocol. CONCLUSIONS : The results of a comparison of standard and low-dose CT show that there is no significant loss of diagnostic information and image quality as the radiation load is reduced. Thus, chest LDCT can be used to successfully diagnose COVID-19 in routine practice.

Breast vascular calcifications are a manifestation of calcinosis of the medial layer of the artery walls. This type of calcifications is well visualized on mammograms. Mammography is a widespread and affordable screening test for breast cancer. The studies published in recent years demonstrate a relationship of breast vascular calcifications to cardiovascular risk factors, coronary heart disease. Identification of the correlation of breast vascular calcifications with coronary artery calcifications will be able to improve cardiovascular risk stratification in the group of women with an asymptomatic course.

Actuality One of the most widely discussed treatments for patients with COVID-19, especially at the beginning of the epidemy, was the use of the antimalarial drug hydroxychloroquine (HCQ). The first small non-randomized trials showed the ability of HCQ and its combination with azithromycin to accelerate the elimination of the virus and ease the acute phase of the disease. Later, large, randomized trials did not confirm it (RECOVERY, SOLIDARITY). This study is a case-control study in which we compared patients who received and did not receive HCQ.Material and Methods 103 patients (25 in the HCQ treatment group and 78 in the control group) with confirmed COVID-19 (SARS-CoV-2 virus RNA was detected in 26 of 73 in the control group (35.6%) and in 10 of 25 (40%) in the HCQ group) and in the rest - a typical picture of viral pneumonia on multislice computed tomography [MSCT]) were included in the analysis. The severity of lung damage was limited to stages I-II, the CRP level should not exceed 60 mg/dL, and oxygen saturation in the air within 92-98%. We planned to analysis the duration of treatment of patients in the hospital, the days until the normalization of body temperature, the number of points according to the original SHOCS-COVID integral scale, and changes in its components (C-reactive protein (CRP), D-dimer, and the percentage of lung damage according to MSCT).Results Analysis for the whole group revealed a statistically significant increase in the time to normalization of body temperature from 4 to 7 days (by 3 days, pConclusion We have not identified any positive properties of HCQ and its ability to influence the severity of COVID-19. This antimalarial agent slows down the normalization of the body's inflammatory response and lengthens the time spent in the hospital. HCQ should not be used in the treatment of COVID-19.

Coronavirus infection COVID-19 is an acute respiratory viral disease caused by a novel beta-coronavirus SARS-CoV-2. In 81 % of cases, mortality in COVID-19 patients is associated with the development of acute respiratory distress syndrome (ARDS). Another critical challenge associated with COVID-19 is the development of a cytokine storm, which is an uncontrolled release of proinflammatory mediators due to the excessive activation of immune system. Cytokine storm is another cause of high mortality because of COVID-19, as it leads to multiple organ failure, ARDS and disseminated intravascular coagulation (DIC). Thus, the management of cytokine storm and ARDS in COVID-19 patients is an urgent issue for the medical society. Recent research assessed the potential role of interleukin(IL)-17 in the pathogenesis of cytokine storm and ARDS in COVID-19 patients. Some authors also pointed to using anti-IL17 medications in the management of patients with severe COVID-19. The present article gives a literature review on the possible role of IL-17 in COVID-19 pathogenesis and our personal experience of anti-IL17 prescription for patients with severe course of COVID-19.

To compare clinical features and outcomes of Fabry disease (FD) in patients with and without end-stage renal disease(ESRD) and to identify factors associated with developementof terminal chronic renal failure.

The article focuses on effective treatment of the novel coronavirus infection (COVID-19) at early stages and substantiates the requirement for antiviral therapy and for decreasing the viral load to prevent the infection progression. The absence of a specific antiviral therapy for the SARS-CoV-2 virus is stated. The authors analyzed results of early randomized studies using lopinavir/ritonavir, remdesivir, and favipiravir in COVID-19 and their potential for the treatment of novel coronavirus infection. Among the drugs blocking the virus entry into cells, the greatest attention was paid to the antimalaria drugs, chloroquine and hydroxychloroquine. The article addresses in detail ineffectiveness and potential danger of hydroxychloroquine, which demonstrated neither a decrease in the time of clinical recovery nor any improvement of prognosis for patients with COVID-19. The major objective was substantiating a possible use of bromhexine, a mucolytic and anticough drug, which can inhibit transmembrane serin protease 2 required for entry of the SARS-CoV-2 virus into cells. Spironolactone may have a similar feature. Due to its antiandrogenic effects, spironolactone can inhibit X-chromosome-related synthesis of ACE-2 receptors and activation of transmembrane serin protease 2. In addition to slowing the virus entry into cells, spironolactone decreases severity of fibrosis in different organs, including the lungs. The major part of the article addresses clinical examples of managing patients with COVID-19 at the University Clinic of the Medical Research and Educational Centre of the M. V. Lomonosov Moscow State University, including successful treatment with schemes containing bromhexine and spironolactone. In conclusion, the authors described the design of a randomized, prospective BISCUIT study performed at the University Clinic of the M. V. Lomonosov Moscow State University with an objective of evaluating the efficacy of this scheme.

Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features. Aim . To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis. Material and methods . A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria. Results . This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene. Conclusions . The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.

Theory of mind is a cognitive ability, which enables to understand intentions, emotions and beliefs of another person. Because of theory of mind, people are able to interpret behavior of others and adapt to it. Numerous psychiatric impairments are associated with damaged theory of mind and communication with others. The present review analyses the impairments of theory of mind as laying on a continuum from hypermentalization (over-attribution of intentions to others) to hypomentalization (under-attribution of intentions to others) in autism spectrum disorders and schizophrenia. FMRI paradigm of different subprocesses of theory of mind is described (perceptual mind-reading, cognitive theory of mind, “hot” theory of mind and implicit theory of mind). Neural mechanisms of these subprocesses and their impairments in autism spectrum disorder and schizophrenia analyzed.

Background Acute post-ablation pericarditis is the most common complication of epicardial ablation of ventricular arrhythmias, while regional pericarditis following an initially uneventful endocardial catheter ablation (CA) procedure is a rare and elusive diagnosis. Case summary We report a case of a 66-year-old Russian female who developed chest pain accompanied by electrocardiogram (ECG) changes—biphasic T waves in V1–V4 leads after an initially uncomplicated premature ventricular complex CA procedure. After examination and investigations, including transthoracic echocardiography (TTE), cardiac magnetic resonance imaging (CMR) and cardiac computed tomography (CCT), she was diagnosed with regional pericarditis, which occurred even though the ablation was uneventful with the limited number of radiofrequency applications. Furthermore, the diagnosis was difficult due to normal body temperature and the absence of pericardial effusion and myocardial abnormalities on TTE, findings that are not characteristic of pericarditis. The patient’s last office visit was in 6 months after the procedure. Neither patient had any complaintsnor there were any changes on ECG and TTE. Discussion Regional post-ablation pericarditis is a relatively rare type of post-cardiac injury syndrome (PCIS). The varying severity of the PCIS clinical course makes the diagnosis of post-ablation pericarditis initially difficult, especially in patients undergoing an uneventful CA procedure. Non-invasive imaging modalities as CMR and CCT should be considered initially in elusive cases of PCIS.

The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjusted, and a cardioverter defibrillator was implanted for the primary prevention of sudden cardiac death. Given the hereditary nature of the disease, family screening was conducted. By the family screening the disease was diagnosed in the mother of proband. Later, was made exome sequencing in a group of genes related to the development of left ventricular noncompaction cardiomyopathy. One likely pathogenic variant (rs1471414348, stop codon) in the TTN gene was detected. The discovered variant was validated by Sanger sequencing and was detected only in the proband and his mother, and was absent in other relatives. There were no other pathogenic and probably pathogenic variants in genes associated with the development of left ventricular noncompaction and other cardiomyopathies. As a result of family screening the new cases were diagnosed, the pathogenic variant of the TTN gene was identified, that is probably responsible for the development of the LVNC phenotype.

Loeffler's endocarditis remains is a very rare disease, develops due to eosinophilic inflammation predominantly of the endocardium with an outcome in fibrosis and massive thrombus formation and. He is generally characterized by an unfavorable prognosis. Clinical case of a 42-year-old patient with Loeffler endocarditis is presented. The development of the disease was preceded by a polyvalent allergy, mild dry eye syndrome and pansinusitis with a single eosinophilia of blood up to 16%. The reason for the hospitalization was the appearance of biventricular heart failure. During the previous year, the level of blood eosinophils remained normal, a threefold increase in the level of eosinophilic cationic protein was observed once. A 20-fold increase in the pANCA level, a 2.5-fold increase in the level of antibodies to DNA, an antibody to the nuclei of cardiomyocytes 1:160 were detected. The diagnosis was made on the basis of electrocardiography data (low QRS voltage, atrial hypertrophy), echocardiography, multispiral computed tomography and magnetic resonance imaging of the heart (thickening and delayed contrasting of the endocardium, massive thrombosis of the left ventricular apex with obliteration of its cavity, encapsulated fluid in the pericardium with compression of the right ventricle). Systolic dysfunction, severe signs of restriction and arrhythmias were absent. Trombectomy, tricuspid valve plasty, pericardial resection, suturing of an open oval window were performed. Signs of active inflammation with single eosinophils, vasculitis, perimuscular sclerosis, endocardial sclerosis were detected in morphological and immunohistochemical studies of endo-, myo-, pericardium. Viral genome was not found. The therapy with methylprednisolone 24 mg/day, azathioprine 75 mg/day was started. Six months after the operation, the symptoms of heart failure are completely absent, the thrombosis did not recur.

Common diagnostic approach in patients with suspected cardiac amyloidosis includes cardiac magnetic resonance imaging and scintigraphy. We report the first clinical case of false‐positive results of scintigraphy in a patient with Danon disease.

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein–2, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC.

Although working memory (WM) is crucial for intellectual abilities, not much is known about its brain underpinnings, especially the structural connectivity. We used diffusion tensor imaging (DTI) to look across the whole brain for the white matter integrity correlates of the individual differences in the reading span (verbal WM capacity during reading) in healthy adults. Right-handed healthy native Russian speakers (N = 67) underwent DTI on a 3T Philips Ingenia scanner. Verbal WM was assessed with the Daneman-Carpenter reading span test (Russian version). Fractional anisotropy maps from each participant were entered into the group tract-based spatial statistics analysis with the reading span as a covariate; the results were TFCE-corrected. After taking into account effects of age, sex, education and handedness, reading span positively correlated with the white matter integrity in multiple sites: the body, the genu and the splenium of corpus callosum; bilateral corona radiata (anterior, posterior, and superior); bilateral superior longitudinal fasciculus; several tracts in the right hemisphere only, including the internal and external capsule; bilateral superior parietal and frontal white matter. Although the left hemisphere is central for verbal processing, we revealed the important role of the right hemisphere white matter for the verbal WM capacity. Our finding indicates that larger verbal working memory span may originate from additional processing resources of the right hemisphere.

Although working memory (WM) is crucial for intellectual abilities, not much is known about its brain underpinnings, especially the structural connectivity. We used diffusion tensor imaging (DTI) to look across the whole brain for the white matter integrity correlates of the individual differences in the reading span (verbal WM capacity during reading) in healthy adults. Right-handed healthy native Russian speakers (N = 47) underwent DTI on a 3T Philips Ingenia scanner. Verbal WM was assessed with the Daneman-Carpenter reading span test (Russian version). Fractional anisotropy maps from each participant were entered into the group tract-based spatial statistics analysis with the reading span as a covariate; the results were TFCE-corrected. Reading span positively correlated with the white matter integrity in several sites of the right hemisphere: the body and the splenium of corpus callosum; the posterior limb of internal capsule; posterior corona radiata; and superior parietal white matter. Although the left hemisphere is central for verbal processing, we revealed the important role of the right hemisphere white matter for the verbal WM capacity. Our finding indicates that larger verbal working memory span may originate from additional processing resources of the right hemisphere.

Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her son. Therefore, we applied a broad next-generation sequencing gene panel approach for the identification of the underlying mutation. Interestingly, \(\it DES\)-p.A337P was identified in the genomes of both patients, whereas only the index patient carried \(\it DSP\)-p.L1348X. \(\it DES\) encodes the muscle-specific intermediate filament protein desmin and \(\it DSP\) encodes desmoplakin, which is a cytolinker protein connecting desmosomes with the intermediate filaments. Because the majority of \(\it DES\) mutations cause severe filament assembly defects and because this mutation was found in both affected patients, we analyzed this \(\it DES\) mutation in vitro by cell transfection experiments in combination with confocal microscopy. Of note, desmin-p.A337P forms cytoplasmic aggregates in transfected SW-13 cells and in cardiomyocytes derived from induced pluripotent stem cells underlining its pathogenicity. In conclusion, we suggest including the \(\it DES\) gene in the genetic analysis for LVNC patients in the future, especially if clinical involvement of the skeletal muscle is present.

The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertrophic cardiomyopathy and left ventricular non-compaction in family members. Attention is drawn to the various severity of clinical manifestations in relatives of carriers of mutation: from asymptomatic to severe heart failure and acute cerebrovascular accident.

In up to 10 % of patients with hypertrophic cardiomyopathy, the disease is caused by genetic disorders including metabolic diseases. Sometimes clinical workup may be confusing. To our knowledge, this is the first report of false positive results of scintigraphy indicating cardiac amyloidosis in a patient with Danon disease.

Introduction Coronavirus pneumonia not only severely affects the lung tissue but is also associated with systemic autoimmune inflammation, rapid overactivation of cytokines and chemokines known as “cytokine storm”, and a high risk of thrombosis and thromboembolism. Since there is no specific therapy for this new coronavirus infection (COVID-19), searching for an effective and safe anti-inflammatory therapy is critical.Materials and methods This study evaluated efficacy and safety of pulse therapy with high doses of glucocorticosteroids (GCS), methylprednisolone 1,000 mg for 3 days plus dexamethasone 8 mg for another 3-5 days, in 17 patients with severe coronavirus pneumonia as a part of retrospective comparative analysis (17 patients in control group). The study primary endpoint was the aggregate dynamics of patients’ condition as evaluated by an original CCS-COVID scale, which included, in addition to the clinical status, assessments of changes in the inflammation marker, C-reactive protein (CRP); the thrombus formation marker, D-dimer; and the extent of lung injury evaluated by computed tomography (CT). Patients had signs of lung injury (53.2 % and 25.6 %), increases in CRP 27 and 19 times, and a more than doubled level of D-dimer (to 1.41 µg/ml and 1.15 µg/ml) in the active therapy and the control groups, respectively. The GCS treatment group had a more severe condition at baseline.Results The GCS pulse therapy proved effective and significantly decreased the CCS-COVID scores. Median score difference was 5.00 compared to the control group (р=0.011). Shortness of breath considerably decreased; oxygen saturation increased, and the NEWS-2 clinical status scale scores decreased. In the GCS group, concentration of CRP significantly decreased from 134 mg/dl to 41.8 mg/dl (р=0.009) but at the same time, D-dimer level significantly increased from 1.41 µg/ml to 1.98 µg/ml (р=0.044). In the control group, the changes were nonsignificant. The dynamics of lung injury by CT was better in the treatment group but the difference did not reach a statistical significance (р=0.062). Following the GCS treatment, neutrophilia increased (р=0.0001) with persisting lymphopenia, and the neutrophil/lymphocyte (N/L) ratio, a marker of chronic inflammation, increased 2.5 times (р=0.006). The changes in the N/L ratio and D-dimer were found to correlate in the GCS pulse therapy group (r =0.49, p=0.04), which underlined the relationship of chronic autoimmune inflammation with thrombus formation in COVID-19. No significant changes were observed in the control group. In result, four patients developed venous thromboembolic complications (two of them had pulmonary artery thromboembolism) after the GCS pulse therapy despite the concomitant antiplatelet treatment at therapeutic doses. Recovery was slower in the hormone treatment group (median stay in the hospital was 26 days vs 18 days in the control group, р=0.001).Conclusion Pulse therapy with high doses of GCS exerted a rapid anti-inflammatory effect but at the same time, increased the N/L ratio and the D-dimer level, which increased the risk of thromboembolism.

Objective.To validate MR-criteria used for diagnosis of trigeminal neuralgia (TN).Material and methods.Study population consisted of 133 patients: with trigeminal neuralgia (86, surgically (56) and clinically (30) verified; 55 ± 11 years) and control group (47; 51 ± 16 years). The data were obtained using the FIESTA sequence (slice thickness 0.5 mm) on 3T and 1.5T (Discovery 750w and Optima 450w, General Electric).Results.The diameters of the adjacent vessels on the symptomatic side were significantly bigger than the diameters on the asymptomatic side in patients with neuralgia (medians 1.2 and 1 mm, pConclusion.Noninvasive MR-measurements of the posterior cranial fossa vessels show the differences between the symptomatic and asymptomatic side in the patients with TN as well as healthy individuals. This result may be used as a predictor of TN.

Hypertensive heart disease with biventricular cardiac failure is not common in clinical practice. This diagnosis requires an extensive diagnostic search. We present the clinical case of the male patient of 38 aged. He was admitted to the clinic with heart failure 3-4 NYHA class. EchoCG revealed symmetric hypertrophy of the left ventricle up to 18 mm without its dilatation, a decrease in ejection fraction up to 42%, restrictive hemodynamics, overload of the right chambers, severe pulmonary hypertension (60 mm Hg). The clinical status included persistent arterial hypertension (180-220 and 120-150 mm Hg), effusion in both pleural cavities and pericardium, ascites, renal failure. During examination (multispiral computed tomography, magnetic resonance imaging, scintigraphy with 131I-MIBG), bladder paraganglioma was diagnosed (normatenafrin 1468 μg/day). The resection of the tumor was performed, according to immunohistochemical research – neuroendocrine carcinoma, G1. After 3 months a partial regression of hypertension and cardiac failure was observed with the preservation of a high level of creatinine. The criteria and differential diagnosis of the hypertensive heart disease and the syndrome of primary myocardial hypertrophy, diagnostics of the urinary bladder paraganglioma, complex mechanisms of myocardial damage within the pheochromocytoma and its prognosis are discussed.

Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype–phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the FHOD3 gene. This is the first description of FHOD3-dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of FHOD3 splicing alterations.

A clinical case of apical hypertrophic cardiomyopathy (HCM) in 44‑years old man is presented. In this patient exercise ECG testing and 24‑hour ECG monitoring revealed exercise-induced ST depression in the angiographically confirmed absence of coronary atherosclerosis. The uncommonness of this observation was the combination of HCM with a rare anomaly of coronary arteries origin.

Objective: to analyze the results of focused ultrasound ablation (MRgFUS) of uterine fibroids and to evaluate the factors affecting the long-term results of treatment.Material and methods. Retrospective analysis of 67 FUS ablations (67 women, 94 fibroids) was performed. The observation period after FUS was up to 36 months. Characteristics of fibroids (standardized signal intensity (SSI) and signal heterogeneity in T2-WI, maximum diameter, volume, nonperfused volume (NPV), coefficients of volume and NPV dynamics (CDV, CDNPV), MR-type) were assessed by MRI. Standardization of the fibroid signal intensity was performed by using the signal intensity from iliac muscle. CDV, CDNPV were calculated as the ratio of fibroids volume and NPV at the time of control MRI to their initial values.Results. Post treatment NPV ratio was 57.1 ± 22.5%. The maximal significant reduction of fibroids volume and NPV was detected by 12 months after FUS (52.1% and 85.8%). CDV and CDNPV showed significant (p100 cm3 were characterized by the lowest rate of NPV reduction. The maximal reduction of volume during the observation period was detected in fibroids with NPV≥75% and volume 150 cm3.Conclusion. The dynamics of fibroids volume and NPV after MRgFUS depends on initial values of these characteristics.

Background Left ventricular noncompaction (LVNC) is characterized by high frequency of heart failure, arrhythmias, thromboembolism and ischemia. Purpose To estimate frequency, predictors, outcomes of adverse events in patients with LVNC. Methods 120 patients with LVNC were included (male, 58.3%); mean age, 45.9±15.0 years. To diagnose LVNC EchoCG (n=120), CT (n=85), MRI (n=55) were performed. The mean LV EF was 39.0±13.9%, LV EDV 155.5±65.0ml, LV EDD 6,03±0.8cm, LA volume 96.3±38.4ml. The median follow-up was 15 [4.0; 41.0] months. We also performed NGS sequencing, followed by Sanger sequencing. Results Pathological mutations in genes MYH7, MyBPC3, LAMP2, DES, DSP, TTN were found in 10% of patients. The main clinical manifestations were chronic heart failure NYHA II-III (66.7% of patients), ventricular arrhythmias (PVCs>500/day in 46.7%, sustained/unsustained VT in 49.2%), AF 30.8% (paroxysmal, n=18; persistent, n=11; permanent, n=9), ischemia (angina pectoris in 20%, myocardial necrosis in 13.3%), intracardiac thrombosis without anticoagulants (19.2%), embolism (6.7%), AV block degree II-III (11.7%), bundle branch blocks (37.5%), sinus node dysfunction (10%). VT frequency was associated with lower LV EF (34.6±13.4 v 42.8±13.1 p=0.001), higher NYHA functional class (class 2.5 [2.0; 3.0] v class 2 [0.75; 3.0], p Conclusion Thromboembolic events, arrhythmias and ischemia are typical adverse events of LVNC. Non-sustained/sustained ventricular tachycardia, myocardial infarction is significantly associated with increased mortality. LV dilation, systolic and diastolic dysfunction increases the frequency of thromboembolism in these patients. Low voltage ECG, poor R-wave progression, QRS duration and myocarditis should considered predictors for arrhythmias in LVNC patients.

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G&gt, T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.

Objective. To determine the effect of quantitative characteristics on the effectiveness of magnetic resonance imaging guided focused ultrasound (MRIgFUS) ablation of uterine fibroids and evaluate the possibility of their use for patient selection. Material and methods. Retrospective analysis of 67 FUS ablations (67 women, 94 fibroids) was performed. We evaluated the characteristics of fibroids (standardized signal intensity (SSI) and signal heterogeneity in T2-WI, the maximum diameter, the distance to the skin and to the sacrum during FUS, volume, nonperfused volume (NPV), MR-type), sonication energy and patients age. Standardization of the fibroid signal intensity was performed by using the signal intensity from iliac muscle. Correlation between NPV and quantitative characteristics was calculated. ROC-analysis was performed for determination of the optimal SSI threshold value required to achieve NPV≥50%. We evaluated the relation between MR-type of fibroids, NPV ratio and SSI. Results . Post treatment NPV ratio was 57.1 ± 22.5%. NPV for 1 type fibroids (n=67) was 63.4 ± 19.7%, for 2 type (n=20) – 46.8 ± ± 19.5% and for 3 type (n=7) – 26.4 ± 21%. Differences between groups was significant (p

Magnetic resonance spectroscopy (MRS) is a noninvasive technique to measure the concentration of chemical substances, which estimates biochemical changes in health and different diseases in vivo. The technique opens up a wide range of possibilities for both primary diagnosis and evaluation of the efficiency of further treatment – medical or surgical one. This review of literature is dedicated to proton MRS used in different tumors of the brain, its tunics, and adjacent nerves. It contains and systematizes data related to the problems of primary diagnosis, differential diagnosis, and evaluation of the efficiency of treatment for tumors and gives references to both basic researches in this area and recent investigations.

Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis in a family, with two individuals presenting LVHT with conduction disease and skeletal myopathy. The genetic analysis revealed a novel small in-frame deletion within the DES gene, p.Q113_L115del, affecting the α-helical rod domain. Immunohistochemistry analysis of explanted myocardial tissue from the index patient revealed an abnormal cytoplasmic accumulation of desmin and a degraded sarcomeric structure. Cell transfection experiments with wild-type and mutant desmin verified the cytoplasmic aggregation and accumulation of mutant desmin. Cotransfection experiments were performed to model the heterozygous state of the patients and revealed a dominant negative effect of the mutant desmin on filament assembly. DES:p.Q113_L115del is classified as a pathogenic mutation associated with dilated cardiomyopathy with prominent LVHT.

Breast cancer represents a global healthcare problem. In spite of all advances in treatment regimens for breast cancer, mortality from the disease stays high in countries where population based screening has not yet been introduced. On the other hand, there is a significant decrease in mortality from breast cancer in those countries where treatment is applied in an early phase of the disease, as a result of regular, population-based screening with mammography. Although mammography is the gold standard in diagnosing breast cancer in its early stage, it has limitations in detecting breast cancer sufficiently early in the dense portion of the breast. This calls for using the multimodality approach also for screening. In addition, the high frequency of multifocal and diffuse breast cancers calls for the need to describe the true extent of the disease preoperatively. The best modality to accomplish this goal is the use of magnetic resonance imaging of the breast (MRI). This report describes the role of breast MRI in the preoperative workup of the different subtypes of breast cancer.

The non-compact left ventricular cardiomyopathy (NCLVC) refers to the non-classified cardiomyopathies. Its cause is not completely clear. NCLVC is characterized by an increased trabecular with the formation of deep intertrabecular crypts. It can exist either in isolated form or in combination with other congenital diseases. The clinical features of NCLVC are different: asymptomatic forms are identified as well as forms with the progressive course of the disease, with heart failure, angina, thromboembolic complications, and ventricular arrhythmias. In some cases, the disease starts with the sudden cardiac death. The sudden decompensation of NCLVC also could arise due to the development of acute myocarditis

Methods 19 patients (m/f-16/3, mean age 59,6± 2,0 years) with history of myocardial infarction ( >1 year) were prospectively enrolled in the study. The CCTA protocol consisted of prospectively gated CTA and DECT. DECT was performed with single-tube 64-row CT in gemstone spectral imaging (GSI) mode with 8 min delay after contrast media injection. Using a 4-point transmurality scale CCTA images were visually assessed for first-pass arterial enhancement deficit and late enhancement in DECT images using iodine distribution maps. Per-segment analysis was performed by 2 observers independently. LGE MRI

The paper reviews the problem of using structured radiology reports. Their salient features are as follows: to work out a protocol in accordance with some pattern, to divide it into subheadings arranged consecutively and logically and broken down by main anatomical structures, types of disease, and study, and to use standardized terminology. The RSNA proposed RadLex system is the most known example of structured reports. The experience in using these protocols has shown that the latter may improve the clearness and informative value of roentgenologists’ opinions and alleviate their understanding by physicians of other specialties. However, the systems of writing the structured radiology reports have a number of constraints for the time being, which interfere with their wide clinical introduction. Nonetheless, their use is substantially increasing in the years ahead.