Blinatumomab as postremission therapy replaces consolidation and substantial parts of maintenance chemotherapy and results in stable MRD negativity in children with newly diagnosed B-lineage ALL.

The bispecific T cell-binding antibody blinatumomab (CD19/CD3) is widely and successfully used for the treatment of children with relapsed or refractory B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Here, we report the efficacy of a single course of blinatumomab instead of consolidation chemotherapy to eliminate minimal residual disease (MRD) and maintain stable MRD-negativity in children with primary BCP-ALL.Between February 2020 and November 2022, 177 children with non-high-risk BCP-ALL were enrolled in the ALL-MB 2019 pilot study (NCT04723342).

Application of Dimethicone to Prevent Culture Media from Drying in Microbiological Diagnostics.

Unlabelled: The search for novel modifications of culture media aimed at culture prolongation is a prerequisite for microbiological diagnostic progress. was to assess the possibilities of applying dimethicone (polymethylsiloxane) as a barrier between the agar surface and atmosphere to prevent drying of solid and semisolid culture medium providing the retention of its useful properties.

Materials And Methods: We studied the dynamics of water (volume) loss of culture media used in microbiology, and the effect of dimethicone on the process.

Lineage Conversion in Pediatric B-Cell Precursor Acute Leukemia under Blinatumomab Therapy.

We report incidence and deep molecular characteristics of lineage switch in 182 pediatric patients affected by B-cell precursor acute lymphoblastic leukemia (BCP-ALL), who were treated with blinatumomab. We documented six cases of lineage switch that occurred after or during blinatumomab exposure. Therefore, lineage conversion was found in 17.

[The structural basis of epileptogenesis in an adult patient: the comprehensive diagnostics experience].

On the example of the diagnosis of the structural basis of focal epilepsy in an adult patient, the possibilities of a multimodal and interdisciplinary approach to diagnosis, combining the latest methods of neuroimaging with the results of neurophysiological examinations, are considered. The interaction and high qualification of specialists in epileptology, neuroradiology and pathomorphology provide a high probability to determine the cause of the focal forms of epilepsy. Along with the introduction of super-inductive MR systems, it is important to use their capabilities correctly and optimize the scanning protocol for the individual characteristics of the patient.

Parallel detection of SARS-CoV-2 RNA and nucleocapsid antigen in nasopharyngeal specimens from a COVID-19 patient screening cohort.

Objectives: Reverse-transcription PCR (RT-PCR) is considered the most sensitive method for the detection of severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2). However, this method is relatively resource- and time-consuming. This study was performed to compare SARS-CoV-2 nucleocapsid antigen (N-Ag) testing using an enzyme-linked immunosorbent assay (ELISA) with SARS-CoV-2 RNA detection.

Chimerism evaluation in measurable residual disease-suspected cells isolated by flow cell sorting as a reliable tool for measurable residual disease verification in acute leukemia patients after allogeneic hematopoietic stem cell transplantation.

Background: The presence of minimal/measurable residual disease (MRD) before or after hematopoietic stem cell transplantation (HSCT) is known as a predictor of poor outcome in patients with acute myeloid (AML) or lymphoblastic (ALL) leukemia. When performed with multiparameter flow cytometry (MFC), assessment of residual leukemic cells after HSCT may be limited by therapy-induced shifts in the immunophenotype (e.g.

[Features of the neuroradiological picture of ganglioglioma on the example of 20 clinical cases].

Objective: To analyze the images obtained during pre-surgical neuroimaging in patients with gangliomas for the presence of specific signs and verification of the neoplastic process.

Material And Methods: The results of presurgical MRI (3.0, 1.

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, additional genetic techniques. Genetic causes of the disease were identified in 69/333 (21%) of subjects, including 11/18 (61%) of children with syndrome-associated IEIs, 45/202 (22%) of nonsyndromic patients with Jeffrey Modell Foundation (JMF) warning signs, 9/56 (16%) of subjects with periodic fever, 3/30 (10%) of cases of autoimmune cytopenia, 1/21 (5%) of patients with unusually severe infections and 0/6 (0%) of individuals with isolated elevation of IgE level.

[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].

Objective: To study clinical and neurophysiological data of early infantile epileptic encephalopathy type 14 caused by KCNT1 mutations.

Material And Methods: For the period 2017 to 2019, 3 non-relative girls with clinical characteristics of epilepsy of infancy with migrating focal seizures (EIMFS) and mutations in the KCNT1 gene are identified and studied. DNA sequencing was performed using the Hereditary epilepsy panel (Next Generation Sequencing on platform IlluminaNextSeq 500, USA).

Heterogeneity of childhood acute leukemia with mature B-cell immunophenotype.

Background: Flow cytometry (FCM) plays a crucial role in the differential diagnosis of Burkitt lymphoma/leukemia (BL) and B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The presence of surface IgM (sIgM) alone or with light chain restriction indicates a mature blast phenotype (BIV by EGIL) and is usually observed in BL. However, sIgM expression could also be detected in transitional BCP-ALL cases.

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.

Unlabelled: Laboratory diagnostics of lysosomal acid lipase deficiency (LAL-D), a rare disorder associated with alterations, are based on the evaluation of LAL activity. In dry blood spots (DBS) submitted for LAL-D diagnostics (the screening cohort) over a two-year period or obtained from a cohort of retrospective LAL-D patients, we measured: (1) LAL activity using a two-reaction assay with 4-methylumbelliferone palmitate (4-MU-Palm) and Lalistat-2, a specific LAL inactivator; (2) total lipase (TL) activity by a 1-hour kinetic 4-MU-Palm cleavage reaction (no Lalistat-2). The TL activity was expressed as the area under the kinetic curve after 1 hour (TL-AUC) of the reaction and presented as the median (min-max).

Reduced vs. standard dose native E. coli-asparaginase therapy in childhood acute lymphoblastic leukemia: long-term results of the randomized trial Moscow-Berlin 2002.

Purpose: Favorable outcomes were achieved for children with acute lymphoblastic leukemia (ALL) with the first Russian multicenter trial Moscow-Berlin (ALL-MB) 91. One major component of this regimen included a total of 18 doses of weekly intramuscular (IM) native Escherichia coli-derived asparaginase (E. coli-ASP) at 10000 U/m during three consolidation courses.

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT.

The role of nelarabine in the treatment of T-cell acute lymphoblastic leukemia: literature review and own experience.

Aim: The analysis of experience of nelarabine use in refractory/relapsed T-cell acute lymphoblastic leukemia (T-ALL) depending on the immunophenotype and the line of therapy.

Materials And Methods: All the patients with relapsed or refractory T-ALL aged from 0 to 18 years who received treatment with nelarabine as a part of the therapeutic element R6 were included in the study. For all patients a detailed immunological analysis of leukemia cells with discrimination of immunological variants TI, TII, TIII or TIV was performed.

[Peptidergic nootropic therapy in cerebral palsy associated with epilepsy].

Aim: To assess the efficacy and safety of сortexin in the treatment of children with cerebral palsy (CP) combined with epilepsy.

Material And Methods: Eighty-four patients (55 boys and 29 girls), aged from 1 to 11 years, with CP combined with epilepsy received cortexin together with antiepileptic drugs (AEDs). Cortexin was administered in doses of 5-10 mg depending on the patient's age and body weight intramuscularly during hospitalization.

[Treatment of epilepsy in children with brain tumors].

Aim: Symptomatic focal epilepsy is frequently caused by supratentorial brain tumors that may be surgically removed. The authors studied outcomes of surgical treatment depending on the use of electrocorticography c (ECoG).

Material And Methods: Seventy-five children, aged 5-7 years, with supratentorial brain tumors were examined.

[Etiology of stroke in children].

The lecture contains information on terminology, etiology and pathogenesis of stroke in children. The current statistics on the incidence of stroke in the pediatric population, prognosis and principles of early diagnosis are presented. Different states, complicating stroke in children are described.

[Etiological and pathogenetic mechanisms in development of craniosynostoses in children].

Craniosynostoses belong to a heterogenous group of diseases characterized by a preterm closing of cranial sutures. The symptoms may be nonsyndromal, incomplete syndromal and syndromal. Most popular are now hereditary and genetic theories of its development.