[Comprehensive rehabilitation of spinal trauma patients with extended involvement of nursing staff and neurometabolic therapy].

Objective: Analysis of the effectiveness of the use of the drug Cytoflavin and the organization of the activities of nursing staff, within the framework of nursing care, in the complex therapy of patients with spinal cord injury (PSMT).

Material And Methods: Material and methods. 40 patients with PSMT due to a gunshot wound were examined, who were divided into two equal groups depending on the type of therapy performed: group 1 patients received the full volume of stage I medical rehabilitation (with additional use of neurodevelopmental techniques under the supervision of a Bobata department nurse) and standard drug therapy, including a course of intravenous Cytoflavin infusions followed by tablet form; group 2 patients received the full volume of stage I medical rehabilitation and standard drug therapy, but did not receive Cytoflavin.

Computer-Guided Navigation System Efficiency Evaluation Using Surgical Instruments for Spinal Fusion.

Background: Navigation surgical systems have been widely used in spinal fusion to ensure accuracy and safety during pedicle screw insertion.

Methods: The research was performed under laboratory conditions, using stereotactic navigation, surgical instruments for spinal fusion, development of additional devices and software. During the experiments, all stages of the computed tomography-guided navigation system use were performed-preoperative preparation of patient data and planning to provide visual control of the navigation of surgical instruments during the insertion of screws.

Oropharyngeal resistome remains stable during COVID-19 therapy, while fecal resistome shifts toward a less diverse resistotype.

Antimicrobial resistance poses a serious threat to global public health. The COVID-19 pandemic underscored the need to monitor the dissemination of antimicrobial resistance genes and understand the mechanisms driving this process. In this study, we analyzed changes to the oropharyngeal and fecal resistomes of patients with COVID-19 undergoing therapy in a hospital setting.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in Gene.

Tatton-Brown-Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the gene, which is an important participant in epigenetic regulation, especially during embryonic development, and is highly expressed in all tissues. The main features of the syndrome are high growth, macrocephaly, intellectual disability, and facial dysmorphic features. We present a clinical case of Tatton-Brown-Rahman syndrome in a ten-year-old boy with macrocephaly with learning difficulties, progressive eye impairment, and fatigue suspected by a deep learning-based diagnosis assistance system, Face2Gene.

Microbial Signatures in COVID-19: Distinguishing Mild and Severe Disease via Gut Microbiota.

The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has significantly impacted global healthcare, underscoring the importance of exploring the virus's effects on infected individuals beyond treatments and vaccines. Notably, recent findings suggest that SARS-CoV-2 can infect the gut, thereby altering the gut microbiota. This study aimed to analyze the gut microbiota composition differences between COVID-19 patients experiencing mild and severe symptoms.

Evaluation of serum and urine biomarkers for severe COVID-19.

Introduction: The new coronavirus disease, COVID-19, poses complex challenges exacerbated by several factors, with respiratory tissue lesions being notably significant among them. Consequently, there is a pressing need to identify informative biological markers that can indicate the severity of the disease. Several studies have highlighted the involvement of proteins such as APOA1, XPNPEP2, ORP150, CUBN, HCII, and CREB3L3 in these respiratory tissue lesions.

Unexpected extra exon skipping in the DYSF gene during restoring the reading frame by CRISPR/Cas9.

The DYSF gene encoding dysferlin protein is one of the largest and has many transcripts. Pathogenic variants in the gene can lead to various types of myopathies, which makes it a good object for studying the events occurring in it during genome editing by the CRISPR/Cas method. In this study, we evaluated the possibility of permanent skipping of exons 3-4, and 26-27 which deletion does not violate the reading frame and allows to eliminate truncated variants within exons.

Unveiling the contourite depositional system in the Vema Fracture Zone (Central Atlantic).

A combination of a high sediment input and intense bottom currents often leads to the formation of contourites (sediments deposited or significantly reworked by bottom currents). Both of these components are present in the Vema Fracture Zone valley which is the most important passageway for the distribution of the Antarctic Bottom Water from the West to the North-East of the Atlantic. However, no contourite drifts, moats or contourite channels have been found in this region in more than half a century of research.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Autosomal recessive spinocerebellar ataxia type 20, SCAR20 (MIM: 616354) is a rare syndromic form of hereditary ataxias. It characterized by the presence of progressive ataxia, intellectual developmental disorder, autism and dysmorphic features. The disease caused by biallelic variants in gene that lead to loss of protein function.

Safety and Efficacy of Long-Term Voclosporin Treatment for Lupus Nephritis in the Phase 3 AURORA 2 Clinical Trial.

Objective: AURORA 2 evaluated the long-term safety, tolerability, and efficacy of voclosporin compared to placebo in patients with lupus nephritis (LN) receiving an additional two years of treatment following completion of the one-year AURORA 1 study.

Methods: Enrolled patients continued their double-blinded treatment of voclosporin or placebo randomly assigned in AURORA 1, in combination with mycophenolate mofetil and low-dose glucocorticoids. The primary objective was safety assessed with adverse events (AEs) and biochemical and hematological assessments.

[Treatment of toxic hepatitis in COVID-19 patients].

Background: The article reflects the clinical significance of the early diagnosis of toxic hepatitis in patients who have undergone a new coronavirus infection with the determination of clinical and laboratory predictors of the response to therapy. A dynamic analysis of the effectiveness of toxic hepatitis therapy in patients of three experimental groups and a control group is presented.

Aim: The aim of the present study is to increase the effectiveness of the treatment of toxic hepatitis in patients who have undergone COVID-19.

[Composition of oropharyngeal microbiota in patients with COVID-19 of different pneumonia severity].

Aim: To identify features of the taxonomic composition of the oropharyngeal microbiota of COVID-19 patients with different disease severity.

Materials And Methods: The study group included 156 patients hospitalized with confirmed diagnosis of COVID-19 in the clinical medical center of Yevdokimov Moscow State University of Medicine and Dentistry between April and June 2021. There were 77 patients with mild pneumonia according to CT (CT1) and 79 patients with moderate to severe pneumonia (CT2 and CT3).

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients with non-specific IDD, for whom it is impossible to establish a clinical diagnosis without complex genetic diagnostics.

Novel Budesonide Suppository and Standard Budesonide Rectal Foam Induce High Rates of Clinical Remission and Mucosal Healing in Active Ulcerative Proctitis: a Randomised, Controlled, Non-inferiority Trial.

Background And Aims: Proctitis is the least extensive type of ulcerative colitis, for which rectal therapy is rarely studied and is underused. This study evaluated the efficacy, safety, and patient's preference of a novel formulation of budesonide suppository 4 mg, compared with a commercially available budesonide rectal foam 2 mg, for the treatment of mild to moderate ulcerative proctitis.

Methods: This was a randomised, double-blind, double-dummy, active-controlled trial.

[Diagnostics and treatment of non-alcoholic fatty liver disease with concomitant asthenic syndrome].

Aim: Analysis of the effectiveness of therapy for non-alcoholic fatty liver disease (NAFLD) with severe asthenic syndrome.

Materials And Methods: In the period from 2017 to 2019, on the basis of the gastroenterology center of the Vishnevsky 3-rd Central Military Clinical Hospital, 247 patients with NAFLD, including those at the stage of steatohepatitis, and severe asthenic syndrome were examined and treated. The main group included 124 patients, the control group 123 patients.

[Prevalence and prognostic value of gastroenterological manifestations of COVID-19: data from the Russian University Clinic].

Aim: Assessment of the prevalence and prognostic value of gastroenterological manifestations in patients with COVID-19.

Materials And Methods: A single-center retrospective cohort study was carried out. Only cases with laboratory confirmed detection of SARS-CoV-2 virus RNA using polymerase chain reaction in oro-/nasopharyngeal smear samples were subject to analysis.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome.

[Optical coherence tomography and optical coherence tomography-angiography in the diagnosis of chiasmo-sellar region compression].

Unlabelled: Preservation of visual functions in patients with chiasmo-sellar region compression (CSRC) is possible with early diagnosis and surgical decompression.

Purpose: To analyze the parameters of optical coherence tomography (OCT) and optical coherence tomography-angiography (OCTA) in patients with CSRC.

Material And Methods: The study included 10 patients (20 eyes) with CSRC, 15 healthy volunteers (30 eyes).

Programmable low-cost DNA-based platform for viral RNA detection.

Detection of viruses is critical for controlling disease spread. Recent emerging viral threats, including Zika virus, Ebola virus, and SARS-CoV-2 responsible for coronavirus disease 2019 (COVID-19) highlight the cost and difficulty in responding rapidly. To address these challenges, we develop a platform for low-cost and rapid detection of viral RNA with DNA nanoswitches that mechanically reconfigure in response to specific viruses.

[Clinical efficacy of neurometabolic therapy of dissomical disorders in asthenic syndrome].

Aim: To analyze the efficacy of cytoflavin in the complex treatment of sleep disorders in asthenic syndrome.

Material And Methods: One hundred patients with sleep disorders and asthenic syndrome of various etiology and severity were studied. The patients were divided into three groups depending on the type of therapy: the first group received intravenous infusions of cytoflavin for 10 days; the second group, in addition to cytoflavin, received per os melatonin (3 mg or 5 mg) at bedtime; the third group in addition to cytoflavin received per os zopiclone (7.

Consensus statement from the International Consensus Meeting on the Role of Decompressive Craniectomy in the Management of Traumatic Brain Injury : Consensus statement.

Background: Two randomised trials assessing the effectiveness of decompressive craniectomy (DC) following traumatic brain injury (TBI) were published in recent years: DECRA in 2011 and RESCUEicp in 2016. As the results have generated debate amongst clinicians and researchers working in the field of TBI worldwide, it was felt necessary to provide general guidance on the use of DC following TBI and identify areas of ongoing uncertainty via a consensus-based approach.

Methods: The International Consensus Meeting on the Role of Decompressive Craniectomy in the Management of Traumatic Brain Injury took place in Cambridge, UK, on the 28th and 29th September 2017.

Efficacy and safety of biosimilar CT-P13 compared with originator infliximab in patients with active Crohn's disease: an international, randomised, double-blind, phase 3 non-inferiority study.

Background: The infliximab biosimilar CT-P13 was approved for use in Crohn's disease after clinical comparison with originator infliximab in ankylosing spondylitis and rheumatoid arthritis; however, concerns about such indication extrapolation have been expressed. This study investigated whether CT-P13 is non-inferior to infliximab in patients with Crohn's disease who were naive to biological therapy.

Methods: In this randomised, multicentre, double-blind, phase 3 non-inferiority study, we enrolled patients with active Crohn's disease who had not responded to, or were intolerant to, non-biological treatments.