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Aim: to evaluate the significance of a positive polymerase chain reaction result for hepatitis D virus RNA (HDV RNA) in liver biopsy specimens of patients with chronic hepatitis D (CHD) after completion of antiviral therapy (AVT) as a predictor of infection relapse.Materials and methods. The study included 21 patients with CHD who received combined AVT with peginterferon alpha and bulevirtide for 48 weeks, followed by bulevirtide monotherapy for 48–96 weeks, making the total duration of antiviral therapy 96–144 weeks. In all patients HDV RNA became undetectable in serum 24–96 weeks from the start of treatment, with aviremia maintained for at least 48 weeks until the end of AVT. At the end of treatment, all patients underwent liver biopsy to detect HDV RNA in liver tissue.Results. Out of 21 patients with sustained complete virological response (negative polymerase chain reaction result for HDV RNA in serum), 8 (38 %) had HDV RNA detected in liver tissue, indicating that a tissue virological response was not achieved. All 8 patients experienced a relapse of CHD within 24 weeks after discontinuing AVT.Conclusions. In patients with chronic hepatitis D who have achieved a complete virological response in serum, the absence of a virological response in liver tissue (detection of HDV RNA in liver biopsy) is a predictor of relapse, providing a rationale for the continuation of antiviral therapy.

INTRODUCTION. Despite the widespread use of methods for thermoobliteration of varicose veins, there are no standards for prescribing solutions for tumescent anesthesia when performing these operations. Existing prescriptions can be difficult, both in terms of finding the necessary components in a certain concentration, and in terms of correct dilution of the components in saline. AIM OF STUDY. To determine the reasonability of using complex medicinal prescription solutions for tumescent anesthesia when performing endovenous laser obliteration of varicose veins of the lower extremities. MATERIAL AND METHODS. The prospective study included 64 patients who underwent endovenous laser obliteration of the great or small saphenous vein. The operations were performed in accordance with the standard protocol on a device with a wavelength of 1,940 nm and radiation power from 5.0 to 6.0 W. Tumescent anesthesia was created using an automatic infiltration pump using 21 G needles with a length of 120 mm. Group I included patients (n = 34) who were anesthetized with a 0.1 % lidocaine solution at room temperature. Group II included patients (n = 30), for whom the anesthesia solution was prepared according to Klein’s standard prescription for tumescent anesthesia. The distribution of patients into groups was carried out using random sampling. Evaluation criteria: the presence or absence of complaints of pain during surgery and the level of pain assessed using a visual analogue scale. RESULTS. The groups did not differ statistically significantly in terms of main clinical and demographic indicators (p < 0.05). Complaints of pain or burning during surgery were made by 2 patients (5.9 %) in group I and 5 patients (16.7 %) in group II (p = 0.0023). The average pain value according to the visual analogue scale in group I was 0.75 cm [0.30; 1.44], in group II – 1.85 cm [0.85; 2.72], p = 0.0017, while in group I the maximum number of patients — 24 (70.6%) were distributed in the range of 0–1 cm, in group II the maximum number of patients, 17 (56.7 %) were distributed in the range of 1.5–3 cm according to a visual analogue scale. CONCLUSIONS. When using a simple 0.1 % lidocaine solution for tumescent anesthesia, a significantly lower average pain value according to VAS was obtained in comparison with the group of patients who used the standard D. Klein solution (0.75 cm and 1.85 cm, respectively, p = 0. 0017). Also, for the study group, a significantly lower frequency of perioperative complaints and complaints of severe pain was obtained (p < 0.01). The use of complex prescriptions of solutions for tumescent anesthesia when performing endovenous laser obliteration of varicose veins is impractical. The use of a simple 0.1 % lidocaine solution at room temperature, while following the surgical protocol, provides comfortable anesthesia.

Zhu–Tokita–Takenouchi–Kim syndrome (ZTTK syndrome) is a rare autosomal dominant nuclear speckleopathy characterized by developmental delay, hypotonia, intellectual disability, facial dysmorphism in association with variable brain malformations, musculoskeletal abnormalities and ocular involvement. Currently, 87 cases of ZTTK syndrome have been described worldwide. The syndrome caused by mutations in the SON gene, located on the long arm of chromosome 21 (21q22.11). Nonsense and frameshift mutations have been described in the SON gene. Missense mutations, partial or whole gene deletions are less common.The aim of the work is to analyze the clinical picture and molecular genetic results of patients with confirmed ZTTK syndrome and compare them with data from foreign literature.We observed the one boy and two girls with ZTTK syndrome aged 13 months to 59 months, averaging about 38 months. DNA diagnostic was performed by next generation sequencing. All patients and all parents were confirmed by Sanger sequening. Three pathogenic variants were identified: c.5753_5756delTTAG (p.Val1918Glufs*87), c.1531del (p.Thr511Glnfs*9) and c.403delG (p.Glu135Asnfs*14). The first one was is most common, the other two are novel variants. Most patients had growth, motor and speech delay, seizures, hypotonia, congenital heart defects, urinary tract abnormalities and brain malformations. Comparative analysis of facial features in patients with ZTTK syndrome showed downslanting palpebral fissures, epicantal folds, broad or depressed nasal bridge, flared nares, smooth philtrum, thin upper lip and low set, rotated ears. The use of next generation sequencing as a first‑line test for research and diagnostic of ZTTK syndrome is advisable due to the pronounced clinical polymorphism.

Relevance Abdominal aortic aneurysm is a common disease, manifested by an expansion of the abdominal aorta of more than 3 cm and accompanied by the development of serious complications with high mortality. There are symptomatic aneurysms, asymptomatic aneurysms and ruptured aneurysms. The timing of surgical intervention for symptomatic aneurysms still causes some controversy.Aim of study To determine the tactics and timing of surgery in patients with symptomatic abdominal aortic aneurysms.Material and methods The medical histories of 188 patients with symptomatic abdominal aortic aneurysms admitted to the Department of Vascular Surgery of N.V. Sklifosovsky Research Institute for Emergency Medicine. There were 152 men (80.8%) and 36 women (19.2%). The average age of those admitted was 69.8±2.5 years (from 53 to 84 years).Results All patients were divided into three groups, depending on the time of operation from the moment of admission: those operated in the first 24 hours (n=27); those operated from 24 to 72 hours from the moment of admission (n=20) and those operated later than 72 hours (n=136). The mortality by group was 14.8% in the first group, 20.0% in the second group, 7.3%in the third group.Conclusions Patients with symptomatic abdominal aortic aneurysm should be admitted to the intensive care unit for evaluation and preparation for delayed surgery. In cases where hospitalization in the intensive care unit is impossible or pain persists, the patient should be operated on urgently. When the pain syndrome is relieved and blood pressure is normalized, the patient can be further examined and operated on in a delayed manner.

Our study is devoted to the thermophysical properties of solid and liquid nickel in the vicinity of the melting point. For this purpose, we use a first-principles calculation method based on quantum molecular dynamics and experimental measurements with a pulse heating technique. We provide experimental and calculated data on thermal expansion, molar enthalpy, sound velocity, resistivity, and normal spectral emissivity and analyze them together with available experimental and reference data on solid and liquid Ni. We confirm experimentally and computationally the strong temperature dependence of Ni density observed in several experiments. Our fusion enthalpy measurements are in good agreement with the recommended literature data, and the calculation predicts a slightly smaller change in enthalpy. The experimental measurements of nickel resistivity in the solid and liquid states agree with previous experimental data that take into account its correction for thermal expansion. At the same time, our calculation of the resistivity in the solid phase shows a systematic shift. For liquid nickel, we report a weak nonlinear temperature dependence of the normal spectral emissivity. Thus, taking advantage of experimental and ab initio computational approaches, we present consistent data on the thermophysical properties of solid and liquid Ni. [ABSTRACT FROM AUTHOR]

Relevance. The correct calculation of hydrocarbon reserves in various fields (oil, gas, gas condensate) is an important state task, because it allows you to properly organize field development in the future and ensure the rational use of natural resources of the state. In particular, the values of geological and recoverable reserves are assigned to a specific subsurface user and are recorded in departmental documents. Aim. To describe the effect associated with the calculations of the thermodynamic equilibrium of the mixture of hydrocarbons of the Karachaganak oil and gas condensate field at various formation depths with the capillary pressure jump taken into account. This makes it possible to clarify the value of the potential condensate-gas factor of reservoir gas and, as a result, to give a more accurate assessment of the geological reserves of hydrocarbon raw materials. Object. Analysis of the thermodynamic equilibrium of the hydrocarbon mixture of Karachaganak oil and gas condensate field, taking into account the capillary pressure jump, which takes place in a porous medium under reservoir conditions. Methods. Numerical modeling, analytical research. Results. Based on the previously developed methodology for calculating the phase equilibrium with the capillary pressure jump the correction of the potential condensate-gas factor of the formation gas of the Karachaganak oil and gas condensate field was carried out at various formation depths. The range of values of the condensate-gas factor difference for calculations both with and without capillary pressure jump was from 7,04 g/m3, with a condensate-gas factor value equal to 393 g/m3 for formation depth of 4000 m, to 64,47 g/m3, with a condensate-gas factor value equal to 547 g/m3 for formation depth of 4600 m. Based on the updated condensate-gas factor estimate, it is possible to clarify the condensate recovery coefficient during the development of a field without maintaining reservoir pressure or with partial maintaining reservoir pressure.

For decades, GNSS code measurements were much noisier than phase ones, limiting their applicability to ionospheric total electron content (TEC) studies. Ultra-wideband AltBOC signals changed the situation. This study revisits the Galileo E5 and BeiDou B2 AltBOC signals and their potential applications in TEC estimation. We found that TEC noises are comparable for the single-frequency AltBOC phase-code combination and those of the dual-frequency legacy BPSK/QPSK phase combination, while single-frequency BPSK/QPSK TEC noises are much higher. A two-week high-rate measurement campaign at the ACRG receiver revealed a mean 100 sec TEC RMS (used as the noise proxy) of 0.26 TECU, 0.15 TECU, and 0.09 TECU for the BeiDou B2(a+b) AltBOC signal and satellite elevations 0–30°, 30–60°, and 60–90°, correspondingly, and 0.22 TECU, 0.14 TECU, and 0.09 TECU for the legacy B1/B3 dual-frequency phase combination. The Galileo E5(a+b) AltBOC signal corresponding values were 0.25 TECU, 0.14 TECU, and 0.09 TECU; for the legacy signals’ phase combination, the values were 0.19 TECU, 0.13 TECU, and 0.08 TECU. The AltBOC (for both BeiDou and Galileo) SNR exceeds those of BPSK/QPSK by 7.5 dB-Hz in undisturbed conditions. Radio frequency interference (the 28 August 2022 and 9 May 2024 Solar Radio Burst events in our study) decreased the AltBOC SNR 5 dB-Hz more against QPSK SNR, but, due to the higher initial SNR, the threshold for the loss of the lock was never broken. Today, we have enough BeiDou and Galileo satellites that transmit AltBOC signals for a reliable single-frequency vTEC estimation. This study provides new insights and evidence for using Galileo and BeiDou AltBOC signals in high-precision ionospheric monitoring.

Huntington’s disease is a serious inherited neurodegenerative disorder characterized by of motor, cognitive and psychiatric features. The disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene and the production of mutant huntingtin protein.The disease usually manifests in adulthood, but the manifestation in childhood and youth is also described, which is noted in 5–10 % of cases. The disease predominantly affects the neostriatum, resulting in a characteristic clinical picture.The most promising approaches to etiotropic therapy of Huntington’s disease are a number of DNA- (CRISPR/Cas9 system) and RNA-directed methods (antisense oligonucleotides, RNA interference), methods that directly reduce the level of mutant gentingtin (chimera molecules), as well as approaches based on inactivating the DNA mismatch repair system using the FAN1 enzyme.

IntroductionThe blockade of interleukine-1 (anakinra and canakinumab) is a well-known highly effective tool for monogenic autoinflammatory diseases (AIDs), such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, hyperimmunoglobulinaemia D syndrome, and cryopyrin-associated periodic syndrome, but this treatment has not been assessed for patients with undifferentiated AIDs (uAIDs). Our study aimed to assess the safety and efficacy of canakinumab for patients with uAIDs.MethodsInformation on 32 patients with uAIDs was retrospectively collected and analyzed. Next-generation sequencing and Federici criteria were used for the exclusion of the known monogenic AID.ResultsThe median age of the first episode was 2.5 years (IQR: 1.3; 5.5), that of the disease diagnosis was 5.7 years (IQR: 2.5;12.7), and that of diagnostic delay was 1.1 years (IQR: 0.4; 6.1). Patients had variations in the following genes: IL10, NLRP12, STAT2, C8B, LPIN2, NLRC4, PSMB8, PRF1, CARD14, IFIH1, LYST, NFAT5, PLCG2, COPA, IL23R, STXBP2, IL36RN, JAK1, DDX58, LACC1, LRBA, TNFRSF11A, PTHR1, STAT4, TNFRSF1B, TNFAIP3, TREX1, and SLC7A7. The main clinical features were fever (100%), rash (91%; maculopapular predominantly), joint involvement (72%), splenomegaly (66%), hepatomegaly (59%), lymphadenopathy (50%), myalgia (28%), heart involvement (31%), intestinal involvement (19%); eye involvement (9%), pleuritis (16%), ascites (6%), deafness, hydrocephalia (3%), and failure to thrive (25%). Initial treatment before canakinumab consisted of non-biologic therapies: non-steroidal anti-inflammatory drugs (NSAID) (91%), corticosteroids (88%), methotrexate (38%), intravenous immunoglobulin (IVIG) (34%), cyclosporine A (25%), colchicine (6%) cyclophosphamide (6%), sulfasalazine (3%), mycophenolate mofetil (3%), hydroxychloroquine (3%), and biologic drugs: tocilizumab (62%), sarilumab, etanercept, adalimumab, rituximab, and infliximab (all 3%). Canakinumab induced complete remission in 27 patients (84%) and partial remission in one patient (3%). Two patients (6%) were primary non-responders, and two patients (6%) further developed secondary inefficacy. All patients with partial efficacy or inefficacy were switched to tocilizumab (n = 4) and sarilumab (n = 1). The total duration of canakinumab treatment was 3.6 (0.1; 8.7) years. During the study, there were no reported Serious Adverse Events (SAEs). The patients experienced non-frequent mild respiratory infections at a rate that is similar as before canakinumab is administered. Additionally, one patient developed leucopenia, but it was not necessary to stop canakinumab for this patient.ConclusionThe treatment of patients with uAIDs using canakinumab was safe and effective. Further randomized clinical trials are required to confirm the efficacy and safety.

The influence of epigenetic processes on the development of malignant diseases, including gynaecological cancers, is now beyond doubt. DNA methylation, histone modification and post-transcriptional regulation by microRNAs lead to changes in the activity of various genes, contributing to female genital cancers (cervix, endometrium, ovarian). It should be noted that disruptions in gene expression do not only occur in malignant cells, but also in the tumour microenvironment, resulting in disease progression and relapse. However, “epigenetic markers” of carcinogenesis can be useful in the treatment and rehabilitation of patients, making a personalized approach possible.

Hysterectomy currently occupies one of the leading places among obstetric and gynecological surgeries and is one of the highly effective and sometimes the only method of treating various diseases of the female genital organs. Quite often, however, hysterectomy results not only in the elimination of the cause of disease, but also in the development of complications that reduce the quality of life of patients. More and more attention is being paid to neurological complications, which is obviously due to improved diagnostic capabilities, as well as the results of recent research on the pathogenesis and treatment of neurological disorders. Only recently the scientists have begun to think about the true causes of one of the most important neurologic complications of hysterectomy, namely chronic postoperative pain.The review describes in detail the main neurological disorders that develop after hysterectomy: chronic postoperative pain, traumatic neuroma, residual ovarian syndrome as possible causes of chronic pain, mononeuropathies, sexual and sleep disorders, decreased cognitive and motor functions, lower urinary tract and bowel dysfunction. Considerable attention is given to the mechanisms of neurological complications and the relationship between the surgery and emotional disturbances in women.