scholarly journals Prevalence of FOXO1 gene abnormalities in a group of round-cell rhabdomyosarcomas with alveolar morphology

2020 ◽  
Vol 19 (4) ◽  
pp. 82-87
Author(s):  
A. S. Sharlai ◽  
G. K. Botiralieva ◽  
A. E. Druy ◽  
V. Yu. Roshchin ◽  
D. M. Konovalov
Keyword(s):  
Cytogenetic Study ◽  
Chromosomal Rearrangements ◽  
Study Group ◽  
Round Cell ◽  
Malignant Tumours ◽  
Pediatric Hematology ◽  
Gene Translocation ◽  
National Medical ◽  
Group 2 ◽  
Foxo1 Gene

Rhabdomyosarcomas (RMS) are group of soft tissue malignant tumours predominantly childhood. Alveolar rhabdomyosarcoma (aRMS) is the second most common variant of RMS. The majority of aRMSs display a translocations of FOXO1 gene. Such tumours are aggressive, metastasize early and are associated with a worse prognosis for the patient. However, some aRMS cases are rhabdomyosarcomas without classic chromosomal rearrangements. These tumors also have alveolar morphology, but neoplastic cells lack the FOXO1 gene translocation. Such fusion-negative round-cell RMSs behave clinically differently and have a better prognosis. The aim of the present study was to assess the prevalence of FOXO1 gene rearrangements in the group of round cell rhabdomyosarcomas with alveolar morphology. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The study group consisted of 250 formalin-fixed paraffin-embedded samples from patients with RMS. The cytogenetic study was performed by fluorescence in situ hybridization with a locus-specific identifier (LSI) for FOXO1 (13q14). The PAX3-FOXO1 (COSF247) and PAX7-FOXO1 (COSF287) fusion transcripts was detected by RT-PCR. In the study group 1 (аRMS), the rearrangement of PAX3/7-FOXO1 was detected in 44% of cases, in 32% of cases was detected a combined rearrangement with amplification of the 3' FOXO1. In one case, the amplification of the 3' end of the FOXO1 gene was detected without rearrangement; this sample was sent for additional PCR study, as a result of which the chimeric PAX3-FOXO1 transcript was detected. In 22% cases cytogenetic abnormalities were not found. has not been identified. In group 2 (embryonal RMS) we did not detect translocation. The group of round-cell PMCs is heterogeneous and is represented by three variants of genetic events that determine the disease prognosis. At the same time, FOXO1 gene abnormalities are not found in the RMS group with non-alveolar morphology.

scholarly journals Immunophenotypic characteristics of early T-cell precursor acute lymphoblastic leukemia

2019 ◽  
Vol 18 (2) ◽  
pp. 66-74
Author(s):  
A. S. Sharlai ◽  
O. I. Illarionova ◽  
Y. G. Fediukova ◽  
T. Yu. Verzhbitskaya ◽  
L. G. Fechina ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Antigen Expression ◽  
Control Group ◽  
Study Group ◽  
Cell Precursor ◽  
Pediatric Hematology ◽  
National Medical

Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a recently recognized T-ymphoblastic leukemia subgroup with poor prognosis and high-risk of relapse. ETP-ALL subgroup is characterized by unique gene expression and particular cell surface markers profile. Nevertheless, this group cannot be easily detected due to its biological heterogeneity. The aim of the present study was to explore the immunophenotypic characteristics of early T-cell precursor acute lymphoblastic leukemia in ETP-ALL patient. The study group consisted of 64 patients with ETP-ALL. 380 patients with other variants of T-ALL were included to the control group. The antigen expression profile was assessed by multicolor flow cytometry. TI and TII immunological variants were detected in the group of patients with ETP-ALL. Cell markers expression level was determined in both groups. In the study group of ETP-ALL patients CD11a expression was more specific to TII-ALL, while CD33 expression – for TI-ALL. This study allowed to characterize group of patients with ETP-ALL and detected immunophenotypic heterogeneity. More interlaboratory studies are needed for understanding immunological and molecular genetic features ETP-ALL. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology.

scholarly journals Effects of COVID-19 pandemic on breastfeeding rates in a neonatal intensive care unit

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Asli Okbay Gunes ◽  
Emre Dincer ◽  
Nilgun Karadag ◽  
Sevilay Topcuoglu ◽  
Guner Karatekin
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Breast Milk ◽  
Neonatal Intensive Care Unit ◽  
Neonatal Intensive Care ◽  
Control Group ◽  
Study Group ◽  
Intake Rate ◽  
Informed Consent Form ◽  
Group 2

Abstract Objectives To find out if the expressed breast milk delivery rate to neonatal intensive care unit (NICU) for babies who were hospitalized for any reason other than COVID-19, and exclusive breastfeeding (EB) rates between discharge date and 30th day of life of those babies were affected by COVID-19 pandemic. Methods Babies who were hospitalized before the date first coronavirus case was detected in our country were included as control group (CG). The study group was divided into two groups; study group 1 (SG1): the mothers whose babies were hospitalized in the period when mother were asked not to bring breast milk to NICU, study group 2 (SG2): the mothers whose babies were hospitalized after the date we started to use the informed consent form for feeding options. The breast milk delivery rates to NICU during hospitalization and EB rates between discharge and 30th day of life were compared between groups. Results Among 154 mother-baby dyads (CG, n=50; SG1, n=46; SG2, n=58), the percentage of breast milk delivery to NICU was 100%, 79% for CG, SG2, respectively (p<0.001). The EB rate between discharge and 30th day of life did not change between groups (CG:90%, SG1:89%, SG2:75.9; p=0.075). Conclusions If the mothers are informed about the importance of breast milk, the EB rates are not affected by the COVID-19 pandemic in short term, even if the mothers are obligatorily separated from their babies. The breast milk intake rate of the babies was lowest while our NICU protocol was uncertain, and after we prepared a protocol this rate increased.

scholarly journals Obstructive sleep apnea and CPAP therapy alter distinct transcriptional programs in subcutaneous fat tissue

SLEEP ◽  
2019 ◽  
Vol 43 (6) ◽  
Author(s):  
Sina A Gharib ◽  
Amanda L Hurley ◽  
Michael J Rosen ◽  
James C Spilsbury ◽  
Amy E Schell ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Subcutaneous Adipose Tissue ◽  
Subcutaneous Fat ◽  
Study Group ◽  
Cpap Therapy ◽  
Obstructive Sleep ◽  
Group 2 ◽  
Subcutaneous Adipose ◽  
Group 1

Abstract Obstructive sleep apnea (OSA) has been linked to dysregulated metabolic states, and treatment of sleep apnea may improve these conditions. Subcutaneous adipose tissue is a readily samplable fat depot that plays an important role in regulating metabolism. However, neither the pathophysiologic consequences of OSA nor the effects of continuous positive airway pressure (CPAP) in altering this compartment’s molecular pathways are understood. This study aimed to systematically identify subcutaneous adipose tissue transcriptional programs modulated in OSA and in response to its effective treatment with CPAP. Two subject groups were investigated: Study Group 1 was comprised of 10 OSA and 8 controls; Study Group 2 included 24 individuals with OSA studied at baseline and following CPAP. For each subject, genome-wide gene expression measurement of subcutaneous fat was performed. Differentially activated pathways elicited by OSA (Group 1) and in response to its treatment (Group 2) were determined using network and Gene Set Enrichment Analysis (GSEA). In Group 2, treatment of OSA with CPAP improved apnea-hypopnea index, daytime sleepiness, and blood pressure, but not anthropometric measures. In Group 1, GSEA revealed many up-regulated gene sets in OSA subjects, most of which were involved in immuno-inflammatory (e.g. interferon-γ signaling), transcription, and metabolic processes such as adipogenesis. Unexpectedly, CPAP therapy in Group 2 subjects was also associated with up-regulation of several immune pathways as well as cholesterol biosynthesis. Collectively, our findings demonstrate that OSA alters distinct inflammatory and metabolic programs in subcutaneous fat, but these transcriptional signatures are not reversed with short-term effective therapy.

scholarly journals Pharmacokinetics of 13-cis-Retinoic acid in high-risk neuroblastoma patients

2020 ◽  
Vol 19 (4) ◽  
pp. 20-31
Author(s):  
E. A. Litvin ◽  
D. T. Utalieva ◽  
D. Yu. Kachanov ◽  
A. V. Pshonkin ◽  
M. Ya. Yadgarov ◽  
...  
Keyword(s):  
Retinoic Acid ◽  
High Risk ◽  
Medical Research ◽  
High Performance ◽  
Plasma Concentrations ◽  
Neuroblastoma Cells ◽  
Research Center ◽  
Therapeutic Drug ◽  
Pediatric Hematology ◽  
National Medical

13-cis-Retinoic acid is a differentiation agent for neuroblastoma cells and is a part of post-consolidation therapy for high-risk patients. The effectiveness of this therapeutic approach is currently under study. 26 patients with high-risk neuroblastoma treated at Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology were included in the study of 13-cis-Retinoic acid pharmacokinetics by high-performance liquid chromatography assay with ultraviolet detector depending on the method of administration of drug (swallowed capsules or opened capsules before administration). This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The current study showed that the therapeutic concentration of > 2 μM when taking 13-cis-Retinoic acid at a dose of 160 mg/m2/day was achieved in two groups, regardless of the method of drug administration. However, plasma concentrations of 13-cis-Retinoic acid at 4 hours after administration on the 14th day of therapy were higher in the group of patients who swallowed the capsules (4.1 ± 1.8 μM), compared to those who could not do it (1.9 ± 1.5 μM) (p = 0.022). The introduction into the clinical practice of therapeutic drug monitoring of 13-cis-retinoic acid in high-risk neuroblastoma patients with an assessment of peak concentration and dose adjustment of the following courses may be an important point in the attempt to optimize postconsolidation therapy and improve prognosis.

scholarly journals Epidemiological study of the prevalence of cystitis in women of the Voronezh region

2021 ◽  
Vol 14 (2) ◽  
pp. 10-18
Author(s):  
O.I. Apolikhin ◽  
◽  
Florian Wagenlehner ◽  
D.A. Voytko ◽  
O.V. Zolotukhin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gastrointestinal Tract ◽  
Epidemiological Study ◽  
Gastrointestinal Diseases ◽  
Study Group ◽  
General Group ◽  
Statistical Tool ◽  
Voronezh Region ◽  
History Of ◽  
Group 2

Introduction. The article is devoted to an epidemiological study of the prevalence of cystitis and risk factors for recurrence this disease. Materials and methods. The study is based on the data obtained during the screening survey of 1014 women in the age group of 18-80 years old, permanently residing in the Bobrovsky district of the Voronezh region. Based on the age of the subjects, 3 groups were formed: Group 1 (general group) - 1014 women, Group 2 (fertile age) - 551 women, Group 3 (postmenopausal age) - 463 women. To study the influence of risk factors on the development of cystitis, the following criteria were used: antibiotic therapy, sex life, urinary disorders, gastrointestinal tract (GIT) dysfunction, etc. The obtained material was processed using the computer program Statistics 10.0. 𝛘2 was used as a statistical tool. Results. Of the total number of women surveyed, 15.3% had risk factors according to the ORENUC classification system based on the clinical picture of UTI, anatomical level of UTI, the severity of infection, classification of risk factors and the availability of appropriate antimicrobial therapy. The largest number of risk factors was found in postmenopausal patients (p <0.05). It was found that despite the fact that most of the subjects were sexually active, the absence of sexual activity and the presence of one sexual partner did not affect the presence of a history of cystitis episode (p> 0.05), however, it was revealed that the history of cystitis was significantly associated with functions of the gastrointestinal tract (p<0.05). The use of tactics aimed at active detection of cystitis, by means of questionnaires, can increase the detection rate of cystitis by 10 times. Discussions. In our study, we did not find a large number of cases of recurrent cystitis, in contrast to previously published works, which cited figures from 10 to 30% of the number of women, however, by means of questionnaires, we managed to deduce the prevalence of cystitis in the studied region in women over 18 years old. which amounted to 17.4%. The figure obtained is consistent with data published in previously papers. Conclusions. TThis study has confirmed the previously published works indicating the relationship of cystitis with gastrointestinal diseases. In addition, we found that the prevalence of cystitis (having one or more episodes during a lifetime) in the study group was 17.4%. The annual incidence of cystitis in the study group was 3.2%, while according to official statistics in the region it does not exceed 0.4%. The latter fact indicates the need for further research and strengthening of sanitary and edu- cational work among the population (Internet, TV, radio, newspapers, etc.).

scholarly journals Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation

2021 ◽  
Vol 20 (2) ◽  
pp. 84-96
Author(s):  
E. A. Cherniak ◽  
N. E. Sokolova ◽  
K. V. Semiglazova ◽  
I. N. Lavrentyeva ◽  
E. K. Donush ◽  
...  
Keyword(s):  
Medical Research ◽  
Hemolytic Anemia ◽  
Research Center ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Pediatric Hematology ◽  
Transfusion Independence ◽  
National Medical ◽  
Retrospective Data Analysis ◽  
Minimum Age

The article presents retrospective data analysis of a cohort of patients with PKD (n = 41 patients, aged 4 months – 26,5 years, median of age – 5 years 1 month) who were examined at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology for unspecifid hereditary hemolytic anemia during the period 2013–2020. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. In all patients, the diagnosis was confimed by Next Generation sequencing (NGS). The homozygous mutations in the PKLR gene were found in 10 patients (24.39%), compound heterozygous mutations in 31 patients (75.61%), 77.78% of them were missense mutations. Gender distribution (male:female) was 1:1.73. At least once transfusion of erythrocyte suspension was required to 40 (97.56%) patients. The minimum age at the time of the debut of transfusion dependence was the fist day of life, the maximum was 4 years. Exchange blood transfusion was performed in 13 children, severe normocytic hyperregenerative anemia with transfusion of red blood cells in the fist days of life was noted in 12 children, at the 1st month of life – in 9 children, at the 2nd month of life – in 8 children, at the 3rd month – in 6 children, at the 5th month – in 2 children, at the 1st year – in 1 child, and 2 children underwent single transfusions on the background of infectious episodes at 3 and 4 years respectively. Splenectomy due to high transfusion dependence was performed in 10 patients: transfusion independence was achieved in 5 patients, in 5 – an increase in the interval between blood transfusions. Median of surgical intervention (9 patients): 7 years 4 months, minimum age – 1 year 4 months, maximum – 14 years 4 months. In total, 36 genotypes were described in 41 patients, among them were: c.1529G>A in 3 patients, c.1137_1139del / c.1456C>T – in 2 patients, c.1079G>A/c.1529G>A in 2 patients, c.1130T>C/c.1456C>T in 2 patients, other genotypes occurred once. Two mutations were the most frequent: c.1456C>T (16.67%) and c.1529G>A (16.67%). 19 (46,34%) of patients had previously not described mutations.

scholarly journals Efficacy of azoximer bromide in the treatment of hospitalized patients with moderate to severe community-acquired pneumonia

2021 ◽  
pp. 106-117
Author(s):  
S. K. Zyryanov ◽  
O. I. Butranova ◽  
A. V. Ershov ◽  
Z. Sh. Manasova
Keyword(s):  
Combination Therapy ◽  
Community Acquired Pneumonia ◽  
Hospitalized Patients ◽  
Study Group ◽  
Therapy Regimen ◽  
Duration Of Hospital Stay ◽  
Comparator Group ◽  
Group 2 ◽  
Severe Community Acquired Pneumonia ◽  
Group 1

Introduction. The high incidence of community-acquired pneumonia and the high complication rates in the cases of severe pneumonia actualize the search for new pharmacotherapy tools to improve the effectiveness of standard patient management regimens. A high level of severe inflammatory response underlies the high risk for developing septic complications of pneumonia, along with impaired immune responses.The aim is to evaluate the efficacy of azoximer bromide introduction in the combination therapy regimen for hospitalized patients with moderate to severe community-acquired pneumonia.Materials and methods. A prospective, open label, parallel group, randomized study comparing the efficacy of azoximer bromide introduction in the combination therapy of hospitalized patients with moderate to severe community-acquired pneumonia was conducted at the premises of Federal Scientific and Clinical Center for Reanimatology and Rehabilitation. 30 patients were included in the study group and 37 patients in the comparator group. The baseline characteristics were comparable in both groups. Results. The azoximer bromide introduction in the combination therapy of patients with community-acquired pneumonia led to a statistically significant reduction in the duration of hospital stay (Me (LQ; HQ): 9 (8; 10) days for the study group and 13 (10; 14) days for the comparator group, (p = 0.000078), duration of ICU stay (Me (LQ; HQ) 2 days (1.5; 2.5) and 5 days (5.0; 6.0), respectively, (p = 0.00001), the duration of febrile fever 5 (± 0.6) days versus 10 (± 1.2) days (p = 0.0000), the incidence of acute respiratory failure (13.33% in group 1 versus 37.84% in group 2, p = 0.024) and septic shock (10% in group 1 versus 32.43% in group 2, p = 0.0285).Conclusions. The azoximer bromide introduction in the standard therapy regimen for patients with community-acquired pneumonia allowed to reduce the duration of hospital stay, the duration of ICU stay, the length of febrile fever, the incidence of septic shock and respiratory failure. The possible mechanisms of action may include a reduction of the severe inflammatory reactions and an optimization of the patient's immune response to the infectious process.

scholarly journals EFFECT OF BROMELAIN AND ARNICA COMBINATION ON PERIORBITAL EDEMA AND ECCHYMOSIS IN SEPTORHINOPLASTY

2021 ◽  
Author(s):  
ONER SAKALLIOGLU ◽  
EMRAH GÜLMEZ ◽  
YAVUZ SULTAN SELIM YILDIRIM ◽  
HASAN CETINER ◽  
SERTAC DUZER ◽  
...  
Keyword(s):  
Topical Administration ◽  
Control Group ◽  
Study Group ◽  
Periorbital Edema ◽  
Eyelid Edema ◽  
Group 2 ◽  
Group 1

Purpose: The aim of this study to investigate the effect of bromelain-arnica gel combination on periorbital edema and ecchymosis seen after open septorhinoplasty. Methods: Sixty patients who performed open septorhinoplasty with osteotomies were included to the study. These patients were allocated into two groups: in group 1, 30 patients as control and in group 2, 30 patients as study group who were treated with topical bromelain-arnica gel after surgery. Scoring of eyelid edema and peroirbital ecchymosis were evaluated on the first, third and seventh postoperative days using scale of 0 to 4 used by observers. Results: We observed that the administration of topical bromelain-arnica gel after surgery was effective clinically and statistically in decreasing the score of both edema and ecchymosis in open septorhinoplasty with ostetomies. In group 2 patients, periorbital edema and ecchymosis scores were significantly lower compared to control group (p < 0.05). Conclusions: Our results support that topical administration of bromelain and arnica gel combination provided both clinically and statistically significant reduction in periorbital edema and ecchymosis following septorhinoplasty.

EVALUATION OF THE EFFECTIVENESS OF A CLOSED CIRCUIT IN COMPARISON WITH AN OPEN CIRCUIT OF CARDIOPULMONARY BYPASS

2021 ◽  
pp. 44-47
Author(s):  
Berik Tuishiev ◽  
Gulzhan Bayzhan ◽  
Sabina Samitova
Keyword(s):  
Cardiopulmonary Bypass ◽  
Aortic Valve ◽  
Postoperative Period ◽  
Open Circuit ◽  
Closed Circuit ◽  
Control Group ◽  
Study Group ◽  
Valve Insufficiency ◽  
Group 5 ◽  
Group 2

Objective is to evaluate the effectiveness of closed-loop surgeries with the planned duration of cardiopulmonary bypass more than 2 hours in the immediate postoperative period. Materials and methods. A study was carried out in the clinic over 10 patients (average age 47-56 years) with Diagnoses: Ascending aortic aneurysm, FC 3 aortic valve insufficiency, who underwent surgery for ascending aorta replacement, aortic valve replacement with coronary artery reimplantation. The patients were divided into 2 groups, the 1st group (5 patients) is the control group using an open cardiopulmonary bypass circuit, the 2nd group (5 patients) is the patients using a closed cardiopulmonary bypass circuit. The total time of cardiopulmonary bypass in both groups was 125-187 minutes. Results. In the 2nd study group, drainage blood loss significantly decreased, on average 60-100 ml compared to the control group, where the average drainage loss was 600-1500 ml. The need for blood transfusion was 5.1% in the 2nd group, compared with 43.4% in the control group. In the study group 2, the number of platelets in the postoperative period in patients was higher than in the control group. Conclusion. This study shows that a closed circuit, compared to an open one, allows complex heart surgeries with a planned duration of extracorporeal circulation of more than 2-3 hours.

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