scholarly journals Platelet phenotype in children with ANKRD26-related thrombocytopenia

2021 ◽  
Vol 20 (2) ◽  
pp. 65-73
Author(s):  
D. M. Polokhov ◽  
D. V. Fedorova ◽  
A. V. Pshonkin ◽  
A. A. Ignatova ◽  
E. A. Ponomarenko ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Ethics Committee ◽  
Control Group ◽  
Healthy Children ◽  
Functional Disorders ◽  
Pediatric Hematology ◽  
National Medical ◽  
Platelet Size ◽  
Shape Changes ◽  
Apparently Healthy

The mechanisms of hemorrhagic manifestations in patients with ANKRD26associated thrombocytopenia (ANKRD26-AT) are poorly understood. The aim of this work is to detect possible morpho-functional disorders of platelets in patients with mutations in the ANKRD26gene by flow cytometry with activation. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. 8 children aged from 1.5 to 15 years were examined. The platelet count ranged from 29 to 172 thousand/μl, with a median of 60 thousand/μl. The severity of hemorrhagic manifestations was assessed on a standardized scale (Pediatric Bleeding Questionnaire, PBQ) and it ranged from 0 to 5 points, with a median of 3.5 points. Platelet activation was performed with a CRP + TRAP mixture. Comparison was carried out with the results of examination of 26 apparently healthy children (control group, CG) aged 2 to 15 years. When compared with CG, patients showed an increase in platelet size (FSC; p= 0.018) and granularity (SSC; p< 0.001) after activation. In contrast to the CG, the correlation between FSC and SSC of platelets in patients was not significant (cor. = 0.55; p= 0.15). Patients showed a high, significant relationship between the number and FSC of platelets (cor. = –0.93; p< 0.001), as well as an increased density of CD42b (p < 0.001) and a decrease in the proportion of procoagulant platelets (p= 0.01) after activation. The revealed changes indicate violations of the mechanisms of activation and shape changes of platelets in patients with ANKRD26-AT.

scholarly journals Specifities of the storage pool and morphology of platelets in children with unspecified hemorrhagic syndrome

2021 ◽  
Vol 20 (1) ◽  
pp. 58-65
Author(s):  
D. M. Polokhov ◽  
A. V. Pshonkin ◽  
A. A. Ignatova ◽  
E. A. Ponomarenko ◽  
D. V. Fedorova ◽  
...  
Keyword(s):  
Laboratory Data ◽  
Morphological Characteristics ◽  
Laboratory Diagnosis ◽  
Control Group ◽  
Healthy Children ◽  
Pediatric Hematology ◽  
Storage Pool ◽  
National Medical ◽  
Calculated Parameter ◽  
Group 1

Despite modern possibilities of laboratory diagnosis of hemorrhagic syndrome, in some patients, the causes of bleeding remain unspecified. Among these reasons, mild defects in the platelet link of hemostasis can potentially be hidden. The aim of the work is to identify the features of the function of the platelet hemostasis in children with unspecified hemorrhagic syndrome. 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. We examined 50 patients aged 2 to 17 years with various manifestations of bleeding and lack of laboratory data proving coagulopathy and/or thrombocytopenia; platelet cytofluorometry with activation was performed. The morphological characteristics of platelets in terms of size/granularity (FSC/SSC), the density of the CD62p receptor as a marker of a-granule secretion, and d-granules of platelets were assessed by the fluorescence of loaded mepacrine. Platelet activation was performed with a CRP + TRAP mixture. Comparison was carried out with the results of examination of 50 healthy children (control group - CG) aged 2 to 17 years. The severity of hemorrhagic syndrome was assessed using the standardized ISTH BAT score. The severity of hemorrhagic manifestations according to BAT ISTH score ranged from 2 to 6 points. As a result of the study, two groups of patients differing in the calculated parameter of the FSC/SSC ratio for non-activated platelets were identified. In the CG, the median FSC/SSC was 1.235 (from 1.1 to 1.4), in group 1 (n = 19), the median was 0.97 (from 0.9 to 1.05), and in group 2 (n = 31), the median was 1.24 (from 1.11 to 1.43). The number of platelets of the CG and the groups of patients did not differ significantly. A significant correlation between a decrease in the number of platelets and an increase in their size and granularity, while maintaining a high correlation between size and granularity was observed in groups of patients. In group 1, the overall granularity was increased regardless of the size and number of platelets, the volume of dense granules and membrane CD62p was increased, but the granular CD62p was decreased. The degranulation mechanism was not impaired in both groups of patients. Our results indicate convincingly the contribution of the storage pool and platelet morphology disorders to the development of hemorrhagic manifestations in children with unspecified hemorrhagic syndrome. 

Indicators of the kinin blood system in severe forms of acute respiratory viral infections in children

1982 ◽  
Vol 63 (2) ◽  
pp. 51-52
Author(s):  
V. A. Anokhin ◽  
A. D. Tsaregorodtsev
Keyword(s):  
Viral Infection ◽  
Viral Infections ◽  
Severe Form ◽  
Blood System ◽  
Control Group ◽  
Healthy Children ◽  
Respiratory Viral Infection ◽  
Respiratory Viral Infections ◽  
Acute Respiratory Viral Infection ◽  
Apparently Healthy

The aim of this work was to study the parameters of the components of the kinin blood system in children with severe forms of acute respiratory viral infections (ARVI) with neurotoxicosis syndrome. 55 children with ARVI (aged from 1 to 6 months - 14, from 6 months to 1 year - 18, from 1 to 3 years - 11, from 3 to 7 years - 12). 38 patients were admitted in the first three days of illness, 12 - on 4-5 days and 5 - at a later date. 30 children had a severe form of acute respiratory viral infection and 25 - moderate. Adenovirus infection was diagnosed in 14 patients, influenza - in 16, parainfluenza - in 7, MS-viral infection in 5, mixed viral infection - in 13. The control group consisted of 10 apparently healthy children.

Detection of Human Parvovirus B19 Infection in Children with Chronic Haemolytic Anaemia in Benha University Hospitals

2021 ◽  
Vol 30 (2) ◽  
pp. 51-58
Author(s):  
Amal M. Matta ◽  
Elsayed M. Abd-Elghany ◽  
Abeer A. Aboelazm ◽  
Osama Abo. Zaki, ◽  
Doaa Abd. Shaker
Keyword(s):  
Hemolytic Anemia ◽  
Parvovirus B19 ◽  
Control Group ◽  
P Value ◽  
Healthy Children ◽  
Igg Antibodies ◽  
University Hospitals ◽  
History Of ◽  
Chronic Hemolytic Anemia ◽  
Apparently Healthy

Background: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as thalassemia, hereditary spherocytosis, sickle cell disease and Glucose-6-phosphate dehydrogenase deficiency leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. Objectives: Detection of parvovirus B19 DNA and its IgG antibodies in the serum of children with chronic hemolytic anemia and in apparently healthy children in Benha University Hospitals. Methodology: The study was conducted on 80 children. Forty of them with chronic hemolytic anemia, they were subdivided into 2 groups, Group (1a) included 20 patients without history of aplastic crisis, Group (Ib) included 20 patients with a history of aplastic crisis and 40 age and sex-matched apparently healthy children representing control (Group II). All patients were subjected to full history taking, clinical examination and laboratory investigations. Parvovirus B19 IgG was measured using anti-parvovirus B19 ELISA kits (SUNRED), and parvovirus B19 DNA was detected by using nestedpolymerase chain reaction. Results: The seroprevalence of parvovirus B19 IgG was significantly higher (P value =0.016) in Group Ia (50%) (10 out of 20) and Group Ib (45%) (9 out of 20) than the control group (Group II) (17.5%) (7 out of 40). There was a significant positive correlation between anti-parvovirus B19 IgG and age of all patients, frequency of blood transfusion. The prevalence of parvovirus B19 DNA was 10% (2 out of 20) in group Ia and 30% (6 out of 20) in group Ib and no viral DNA was detected in the controls (P value=0.001). Although 42.3% (11 out of 26) of children with β thalassemia major had a detectable level of antiparvovirus B19 virus IgG antibodies, only (23.1%) (6 out of 26) of them had B19 DNA. Anti-parvovirus B19 IgG antibodies were detected in 4 children out of 5 children of sickle cell anemia (80%) but the the prevalence of Parvovirus B19 DNA was 20% among them. Conclusion: Measures to keep away from iatrogenic and nosocomial infection transmission should be implemented including screening of donated blood for parvovirus B19 especially blood given to patients with blood disorders. Recommendation: Data from this study support the need for introduction of an approved vaccine that mainly protects children with chronic hemolytic anemia against that infection.

Investigation of Epidemiologic Factors in Children with Acute Lymphoblastic Leukemia

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 3948-3948
Author(s):  
Oznur Yilmaz ◽  
Cetin Timur ◽  
Asim Yoruk ◽  
Muferet Erguven ◽  
Elif Aktekin ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Ventilatory Support ◽  
Control Group ◽  
Healthy Children ◽  
High Concentration ◽  
Pediatric Hematology ◽  
Epidemiologic Factors ◽  
Significant Difference ◽  
The Mean

Abstract In this study, we aimed to investigate epidemiologic factors in children with Acute Lymphoblastic leukemia (ALL). The parents of 105 children diagnosed and treated as ALL between the years 1997 –2007 in our Clinic of Pediatric Hematology-Oncology were questioned and results were compared with control group that consisted of 102 healthy children with similar age and gender. The mean age of the patients was 8.57 ± 3.95 years. The mean age at diagnosis was 5.87 ± 3.73 years. There was no significant difference between the groups in terms of type of delivery, birth weight, asphyxia at birth, resuscitation with high-concentration oxygen and ventilatory support (p&gt;0.05). There was also no significant difference between the groups in terms of duration of breast feeding. The rate of exposure to infections prior to diagnosis was higher in control group (p:0.003). Besides that, the rate of going to nursery was also significantly higher in control group (p:0.014). There was no difference between the groups in terms of X-ray exposure (p&gt;0.05). In conclusion over-protection from infectious agents in and delay in meeting with some specific agents seems to increase ALL risk. Infections in early infantile period can be protective against leukemia. There has to be more extended studies on this subject.

The diagnostics of blastic plasmocytoid dendritic cell neoplasm: report of five cases

2021 ◽  
Vol 20 (3) ◽  
pp. 60-67
Author(s):  
I. A. Demina ◽  
S. A. Kashpor ◽  
O. I. Illarionova ◽  
M. E. Dubrovina ◽  
A. A. Dudorova ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Flow Cytometry ◽  
Dendritic Cell ◽  
Plasmacytoid Dendritic Cell ◽  
Skin Lesions ◽  
Flow Cytometry Data ◽  
Hematological Disorders ◽  
Pediatric Hematology ◽  
National Medical ◽  
Cell Neoplasm

The diagnosis of rare hematological disorders requires a comprehensive clinical and laboratory investigation with careful interpretation of all test results. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is one of such rare entities. We have performed a retrospective analysis of the results of immunophenotyping, cytomorphology and cytogenetics of bone marrow tumor cells from 5 patients with BPDCN aged from 8 to 51 years. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. No specific characteristics of blasts were found. No correlation with the treatment and outcomes was noted as well: 3 patients died of progression or relapse (2 and 1, respectively). Bone marrow immunophenotyping is probably the most valuable laboratory test which allows physicians to establish the proper diagnosis in the absence of skin lesions. Flow cytometry immunophenotyping is the only technique used to determine the antigen profile that enables us to distinguish normal plasmacytoid dendritic cells from tumor ones by the presence (or absence) of the expression of CD2, CD7, CD38, CD56, CD303 etc. In the present paper, we provide a detailed description of five cases of BPDCN and main methods for flow cytometry data analysis. The parents of the patients agreed to use the information, including photos of children, in scientific research and publications.

scholarly journals Verification of X-linked lymphoproliferative syndrome type 1 and 2 using a flow cytometry method

2020 ◽  
Vol 19 (4) ◽  
pp. 108-118
Author(s):  
D. Е. Pershin ◽  
V. А. Vedmedskaya ◽  
M. S. Fadeeva ◽  
I. S. Vladimirov ◽  
E. A. Kulakovskaya ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Laboratory Diagnostics ◽  
Hematopoietic Stem ◽  
Pediatric Hematology ◽  
National Medical ◽  
Xiap Expression ◽  
Specificity And Sensitivity ◽  
Intracellular Expression ◽  
Lymphoproliferative Syndrome ◽  
Fast Flow

Х-linked lymphoproliferative syndrome (XLP) is a life-threatening primary immunodeficiency, characterized by hemophagocytic lymphohistiocytosis, lymphoproliferation and hypogammaglobulinemia. The most frequent forms of XLP – XLP1 and XLP2 – are caused by mutations of the SH2D1A and BIRС4/XIAP genes, coding for SAP and XIAP proteins, respectively. Early diagnosis is important as it allows to prevent severe complications by introducing specific therapy and proceed to hematopoietic stem cell transplantation. Here we describe validation of precise and fast flow cytometry-based method of XLP1 and XLP2 laboratory diagnostics. 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. 89 patients from 2 months to 18 years of age seen at our Center from July 2016 to February 2020 with symptoms suspicious of XLP were included in the study. Decrease of SAP intracellular expression was found in 9 patients, and XIAP – in 10 patients. In all of them XLP diagnosis was confirmed by detection of SH2D1A or XIAP mutations, respectively. Female mutations carries from the families of these patients demonstrated abnormal expression of respective proteins. Analysis of the data allowed to calculated the optimized cut-off numbers for the SAP and XIAP expression, which was 50% and 80% in T lymphocytes (respectively) and 45% и 75% in NK lymphocytes (respectively). Specificity and sensitivity of the method was 100% for both proteins. Therefore the method of assessment of SAP and XIAP intracellular expression via flow cytometry allows fast and precise diagnostics of XLP1 and XLP2.

scholarly journals Use of romiplostim for newly diagnosed immune thrombocytopenia in children

2020 ◽  
Vol 19 (1) ◽  
pp. 18-26
Author(s):  
E. V. Suntsova ◽  
I. I. Chikvina ◽  
M. N. Sadovskaya ◽  
N. N. Kotskaya ◽  
L. A. Hachatryan ◽  
...  
Keyword(s):  
Adverse Events ◽  
Immune Thrombocytopenia ◽  
Ethics Committee ◽  
Clinical Use ◽  
Newly Diagnosed ◽  
Pediatric Hematology ◽  
Number Of Children ◽  
National Medical ◽  
Clinical Onset ◽  
Life Threatening

Immune thrombocytopenia (ITP) is a disease with a heterogeneous clinical manifestation. In the majority of children newly diagnosed ITP is a self-limited benign disorder, while chronic ITP develops rarely. The clinical onset of ITP can occur in very different ways: from nearly invisible skin hemorrhage to severe life-threatening bleeding. Conventional treatments promote a response in most patients, but in a small number of children thrombocytopenia is unresponsive. In this article, we describe our experience of the clinical use of romiplostim in children with severe unresponsive newly diagnosed ITP. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. The severity of bleeding decreased significantly after the start of romiplostim therapy in all cases. Durable complete (platelets > 100 × 109 /l) response was achieved in five out of six patients 4 to 8 weeks after starting therapy. Three children have remained in lasting remission for 1 to 3 years after the discontinuation of romiplostim. There were no adverse events associated with romiplostim.

Environmental and Socioeconomic Factors in Children with Acute Lymphoblastic Leukemia

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 3950-3950
Author(s):  
Cetin Timur ◽  
Oznur Yilmaz ◽  
Asim Yoruk ◽  
Muferet Erguven ◽  
Timucin Imdadoglu ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Base Stations ◽  
Control Group ◽  
Healthy Children ◽  
Pediatric Hematology ◽  
Genes And Environment ◽  
Increased Risk ◽  
Significant Difference ◽  
Leukemia Group

Abstract In our study, we aimed to evaluate environmental and socio-economic conditions in children with Acute Lymphoblastic Leukemia (ALL) and to point at possible etiologic factors that can affect leukemia risk. The parents of 105 children diagnosed and treated as ALL between the years 1997 –2007 in our clinic of Pediatric Hematology-Oncology were questioned in terms of environmental and socio-economical factors and results were compared with control group that consisted of 102 healthy children with similar age and gender. Educational level and monthly income were similar between the groups. Occupational exposure of fathers to dust and chemicals were significantly higher in leukemia group (OR:2.00; %95 CI=1.41–3.50, p:0.015). Living near transformer stations (OR: 4.08; %95 CI= 1.3–12.76, p: 0.034) and high-voltage power lines (OR: 2.43; %95 CI= 1.05–5.63, p:0.01) is found to be associated with increased risk of leukemia in children. There was no significant difference in terms of living near base stations (p&gt;0.05). Exposure to industrial air pollution was significantly higher in leukemia group and was related to an elevated risk of ALL (OR: 26.77; %95 CI= 3.53–202.80, p:0.001). There was no significant difference in terms of exposure to insecticides and pesticides between the groups (p:&gt;0.05). In conclusion, leukemia is a disease with multi-factorial etiology that occurs as a result of interactions of genes and environment. The list of possible chemical, physical and biologic agents suspected to play a role in its etiology increase with developing technology and environmental pollution. However there are no sufficient data and more extended studies have to be carried out.

scholarly journals Results of the use of cladribine in children with acute myeloid leukemia in the treatment according to the AML-MM-2006 protocol

2021 ◽  
Vol 20 (1) ◽  
pp. 40-45
Author(s):  
D. A. Venyov ◽  
I. I. Kalinina ◽  
T. Yu. Salimova ◽  
D. A. Evseev ◽  
V. E. Matveev ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Risk Group ◽  
Research Center ◽  
Control Group ◽  
Consolidation Therapy ◽  
Event Free Survival ◽  
Free Survival ◽  
Pediatric Hematology ◽  
National Medical ◽  
Significant Therapeutic Effect

The aim of this work was to evaluate the results of the use of cladribine in the treatment according to the AML-MM-2006 protocol as post-remission therapy in children. 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 article presents the experience of treating children with AML at the Russian Children's Clinical Hospital, and later at the Dmitry Rogachev National Research Center within the framework of the AML-MM-2006 protocol. For the period from 2006 to 2018, 25 children were included in the study. As a comparison, to assess the effectiveness of therapy, the remaining cohort of patients from the intermediate risk group, which consisted of 83 children, was selected. Ultimately, the addition of cladribine in consolidation therapy did not show a significant therapeutic effect (event-free survival 0.47 ± 0.1 for the cladribine group, 0.52 ± 0.06 for the control group), including the development of relapse (56% patients in the cladribine group had a relapse, in the control group – in 34.5%). Thus, the study proved that further inclusion of cladribine in consolidation therapy for primary AML is inappropriate. 

scholarly journals The availability of the vitamin D among children with allergic disease caused by the polymorphic gene VDR

2019 ◽  
pp. 29-31
Author(s):  
T. B. Sentsova ◽  
S. N. Denisova ◽  
A. Nee ◽  
O. V. Kachalova
Keyword(s):  
Vitamin D ◽  
Allergic Diseases ◽  
Polymerase Chain Reaction Method ◽  
Control Group ◽  
Healthy Children ◽  
Heterozygous Variant ◽  
Immunoenzyme Method ◽  
Polymorphic Gene ◽  
Polymerase Chain ◽  
Apparently Healthy

Objective: The objective is to analyze the availability of vitamin D in children with allergic diseases (AD) in polymorphism of the vitamin D receptor (VDR) gene.Methods: The main group included 130 children with allergic diseases aged from 1.5 to 16 y.o. The control group included 41 apparently healthy children aged from 1 to 10 y.o. The analysis of polymorphic markers FokI (rs2228570), BsmI (rs 1544410) and TaqI (rs 731236) of gene VDR was carried out by polymerase chain reaction method in realtime mode using detecting amplifier DT-96 and DNA-diagnostics sets. The assay of metabolite 25(OH) D (25-Hydroxyvitamin D2 and D3) was carried out by an immunoenzyme method.Results: Children with AD demonstrated a significantly increased degree of incidence of A-allele in the site of BsmI gene VDR and carriage of homozygous (A/A) and heterozygous (G/A) of its genotypes. The statistically significant decrease of 25 (OH) concentration was established in heterozygous variant A/G and in homozygous variant G/G of FokI site of gene VDR.Conclusions: The findings lay the groundwork for development of individual approach to prevent vitamin D deficiency in children with AD.

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