Pediatria. Journal named after G.N. Speransky最新文献

{"title":"CLINICAL CASE OF BARE LYMPHOCYTE SYNDROME","authors":"A.Yu. Mishchenko, Yu.V. Petrova, N.V. Davydova, A.M. Kiyeva, N. V. Zinovyeva","doi":"10.24110/0031-403x-2024-103-3-171-177","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-171-177","url":null,"abstract":"Article represents a clinical case of severe combined immune deficiency (SCID), deficiency of MHC class II molecules which was coupled with normal levels of TREC and KREC in a pediatric patient. Simultaneous determination of TREC and KREC in dried blood spots during neonatal screening makes it possible to diagnose various forms of congenital immunodeficiency disorders. For example, a dramatic decrease in TREC is observed in most SCIDs and combined immune deficiencies. However, in some SCIDs associated with a defect primarily in T-cell function rather than T-cell differentiation, TREC levels do not exceed established threshold levels and therefore some rare forms of SCIDs may be missed by neonatal screening programs and consequently lead to its late diagnosis.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"41 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141344422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential diagnosis of acquired aplastic anemia in children: analysis of data gathered from the earlier Register Study","authors":"O. Goronkova, Å.À. Tuzova, Ò.Yu. Salimova, V.S. Fominykh, A. Shutova, E.Kh. Mekhieva, D. D. Baydildina, Å.V. Suntsova, I. Kalinina, A. Pavlova, D. Yukhacheva, I. Mersiyanova, Å.V. Raykina, Y. Olshanskaya, I.À. Dyomina, A. Semchenkova, A. Popov, A. Maschan, G. Novichkova","doi":"10.24110/0031-403x-2024-103-3-8-20","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-8-20","url":null,"abstract":"Acquired aplastic anemia (AA) is still the diagnosis of exclusion. The purpose of the research was to identify clinical and laboratory signs that do not correspond to acquired AA allowing to diagnose other diseases accompanied by cytopenia. Materials and methods used: Authors represent the results of diagnostic search in pediatric patients (0 to 18 y/o) with a suspected diagnosis of acquired AA who underwent remote diagnosis in the laboratories of the National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev (Moscow, Russia) as part of the Register Study in Sep. 1, 2017-May 1, 2022. Results: in retrospective analysis of 523 children records, 104 (20%) patients had other diagnoses. In 29 (27.9%) patients were diagnosed with inherited bone marrow failure syndromes (IBMFS), in 11 (10.6%) with myelodysplastic syndrome, in 11 (10.6%) with deficiency anemia, in 10 (9.6%) with congenital unspecified AA, in 7 (6.7%) with immune cytopenia, in 7 (6.7%) with inborn defects of immunity, in 6 (5.8%) with secondary AA, in 6 (5.8%) with acute leukemia, in 2 (1.9%) with paroxysmal nocturnal hemoglobinuria and in 15 (14.4%) cases with other unspecified diseases. Fanconi anemia (n=15/29 patients) was the most common disease in the IBMFS group; this group had also included: dyskeratosis congenita (n=9), Schwachman-Diamond syndrome (n=2), amegakaryocytic thrombocytopenia (n=2), Diamond-Blackfan anemia in combination with congenital neutropenia (n=1). Conclusion: differential diagnosis of acquired AA can be difficult though it is undoubtedly must-do for successful treatment. Verification of other alternative diseases, including genetically determined syndromes, contributes to the choice of optimal patient management tactics.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"32 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141343002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SAFETY AND EFFECTIVENESS ASSESSMENT OF THE HEMATOPOIETIC STEM CELL MOBILIZATION AND COLLECTION METHOD IN CHILDREN FROM DIFFERENT AGE GROUPS WITH MALIGNANT NEOPLASMS. A SINGLE-CENTER EXPERIENCE","authors":"N. Stepanyan, K. Kirgizov, E. Machneva, R. R. Fatkhullin, T. Z. Aliev, I. Kostareva, A. P. Kazantsev, N. Matinyan, V.V. Zhogov, M. Rubanskaya, O. Romantsova, N. Batmanova, T. T. Valiev, T. Gorbunova, V. Polyakov, S. Varfolomeeva","doi":"10.24110/0031-403x-2024-103-3-21-30","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-21-30","url":null,"abstract":"High dose chemotherapy (HDCT) with autologous hematopoietic stem cell transplantation (auto-HSCT) is used currently as a consolidating stage in cancer treatment protocols for children from different age groups with various malignant neoplasms. Auto-HSCT can improve both progression-free survival and overall survival of such patients. At the same time the optimization of the collection of autologous hematopoietic stem cells (HSCs) seems to be an important factor in the successful implementation of auto-HSCT. The purpose of this research was to evaluate the safety and effectiveness of the HSCs mobilization and collection method in children from different age groups with various malignancies. Materials and methods used: a single-center retrospective cohort study of 258 pediatric patients (median body weight 20.0 [13.8; 42.0] (7.0-95.0) kg and median height 116 [97; 155] (55.0-189) cm) with various cancers aged 1 to 18 y/o (median 78.0 [36; 144] (3-215) months old) who received treatment in Jan. 2020-Jan. 2023 at the Research Institute of Pediatric Oncology and Hematology named after Academician L.A. Durnov with the N.N. Blokhin Russian Cancer Research Center (Moscow, Russia). Patients were divided into 3 age groups: younger than 1 y/o, 1 to 10 y/o and 11 to 18 y/o. Results: 242 (93.8%) of HSC apheresis procedures were successful on the first attempt, 16 patients underwent repeated apheresis (a total of 274 procedures were performed). The median number of CD34+ cells obtained was 110.95 [45.6; 276.4] (0.70-2338.2) cells/µl, median apheresis duration was 253.5 [189; 338] (82-575) min. No serious complications were observed during the HSCs mobilization and collection in any patient. None of the patients developed hemodynamic disturbances. The main criteria for effectiveness was the CD34+/kg level, the median of which was 5.1 [2.4; 12.7] (0.01-95.6)•106. One of the safety criteria for the patients from all the three age groups was the absence of hemodynamic disorders and citrate reactions in the form of numbness, cyanosis of the skin and respiratory disorders. Another important safety criteria were the absence of a significant decrease in both platelet and hemoglobin levels. The median platelet levels prior to the procedure was 125.5 [68; 210] (14.0-815)•109/l and 129 [73; 210] (17.0-823)•109/l at the end of the procedure (p<0.001). Hemoglobin levels before and after the procedure were 100 [94; 110] (75-242) g/l and 99 [93; 109] (70-142) g/l, respectively (p<0.001). Considering it safe to reduce hemoglobin (g/l) and/or platelets (•109/l) by no more than 10 units in each measurement, in 87.6±4.1% (83.0-91.1) of observed cases the procedure was safe without statistically significant differences in all age groups. The effectiveness of the HSCs mobilization and collection method proposed by the Authors in children of the older age group (11 to 18 y/o) was the lowest and was statistically significantly different from the effectiveness in the group of childre","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"32 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141341775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLINICAL CASE OF CHRONIC MULTIFOCAL NONBACTERIAL OSTEOMYELITIS IN A PATIENT WITH INITIALLY DIAGNOSED SYSTEMIC JUVENILE ARTHRITIS","authors":"S. Salugina, I. Nikishina, O. Borodacheva, A.N. Arefyeva, E. Gasymov","doi":"10.24110/0031-403x-2024-103-3-177-184","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-177-184","url":null,"abstract":"Systemic juvenile arthritis (sJA) is a special variant of chronic arthritis in children belonging to the spectrum of polygenic autoinflammatory diseases whose main features are persistent febrile fever, skin rashes, other systemic manifestations (serositis, lymphadenopathy, hepatosplenomegaly) as well as the presence of joint damage with the frequent development of destructive polyarthritis and osteonecrosis, high laboratory indicators of systemic inflammation either at the disease onset or delayed. The list of differentiated conditions includes many diseases such as infections, cancer, primary immunodeficiencies, monogenic autoinflammatory diseases etc. Authors represent a clinical case of a patient with sJA manifestations who was diagnosed with chronic multifocal nonbacterial osteomyelitis (CMNO), that demonstrates the great difficulties in diagnosis and the variability of the course of rheumatic diseases in childhood, which in its turn causes a delay in the timely prescription of effective therapy. Thus, patients with manifestations of a systemic inflammatory process, joint changes, especially those with an atypical course of the disease, pain in the bones and joints of a nocturnal nature, as well as an insufficient response to the therapy even long-term, are in need of conducting of a differential diagnostic search with the inclusion of CMNO, the ‘whole body’ mode magnetic-resonance tomography prescribed by a rheumatologist practitioner.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"58 45","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141344750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DUCHENNE MUSCULAR DYSTROPHY AND ITS EARLY DIAGNOSIS. RELEVANCE, PROBLEMATICS, POSSIBILITIES, PROSPECTS","authors":"Т.А. Gremyakova, О.I. Gremyakova, E. Zinina, V.A. Gnetetskaya, M.Yu. Komarova, A. A. Stepanov, S.V. Voronin, A. Polyakov, E. Zakharova, N. Vashakmadze, S. Kutsev, A. G. Rumyantsev","doi":"10.24110/0031-403x-2024-103-3-96-110","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-96-110","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is an orphan neuromuscular progressive genetic disease that causes muscle breakdown and subsequent loss. Provided early diagnosis, complex standard and pathogenetic therapy significantly changes the trajectory of the disease, making it more benign. Diagnosis of DMD is a two-pillar system with creatine kinase (CK) level measured at the first stage followed by molecular genetic study in case the enzyme threshold values. The quality of genetic diagnostics in Russia has reached the best worldwide standards recently though identifying children with elevated CK levels is yet difficult. The number of diagnosed DMD patients in Russia is significantly lower than the statistically estimated global amount. The average age for diagnosis is not decreasing either. Thus, the median age for DMD and Becker muscular dystrophy (BMD) molecular diagnosis is 7 years and 8 months old. The number of identified children below the age of 2 y/o in Russia has remained consistently low over the past three years. According to the results of a familial cases survey, the correct primary diagnosis of DMD was established in less than half of all cases, 47.1%. The most common incorrect diagnoses were as follows: asymptotic hepatitis (25.1%), perinatal damage to the central nervous system (6.4%), cerebral palsy (2.7%), autism spectrum disorder (ASD) (2.7%) and flat feet, hallux valgus etc. (16% in total). The median duration between the initial DMD manifestation and molecular diagnosis is 3 years and 8 months as yet whilst the age-specific guidelines suggest prescribing standard and pathogenetic therapy during the 2 to 5 y/o period of life. Therefore, the Russia’s average age of DMD diagnosis above 7 y/o lies far beyond the optimal age for initiating of the DMD therapy with the purpose of gaining its maximum possible clinical benefit. The accumulated international and Russian experience demonstrates the possibility for improving of the primary DMD and BMD diagnosis in early preschool age and therefore requires its nationwide introduction.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"4 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141341351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NUTRITIONAL STATUS PECULIARITIES IN CHILDREN WITH CYSTIC FIBROSIS OF THE RUSSIA’S NORTH CAUCASUS VARIOUS ETHNIC GROUPS","authors":"I. Sokolov, M. V. Simonov, O. Simonova, T. Borovik, T. Bushueva, V. Skvortsova, A. A. Pushkov, K. Savostyanov, A. Fisenko, T. Kazyukova, I.Yu. Matsneva, D.I. Mustafaeva, N. Kashirskaya","doi":"10.24110/0031-403x-2024-103-3-79-87","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-79-87","url":null,"abstract":"Adequate nutritional status in a patient with cystic fibrosis (CF) positively correlates with the normal function of the bronchopulmonary system. Many domestic and foreign studies have been conducted so far to assess the nutritional status of children and adults with CF. However, there is no data as yet on the phenotypic characteristics of children from different ethnic groups of the North Caucasus depending on their genotype. The purpose of this research was to study the peculiarities of nutritional status in children with CF of the following Russia’s North Caucasus ethnic groups: Chechen, Karachay-Circassian, Dagestani, Ingush and Ossetian-Alanian. Materials and methods used: a single-center open prospective study of 117 children with CF aged 2 months to 17 years old (Me 6 y/o) of various North Caucasus ethnic groups was conducted. All patients have undergone molecular diagnosis and assessment of both nutritional status and exocrine pancreatic function. Results: 50.4% of pediatric patients with CF in the Russia’s North Caucasus have had pathological mutations in c.1545_1546delTA, p.(Tyr515*) and c.3846G>A, p.(Trp1282*) in homozygous state. These mutations were most often found in the Ingush (100%) and Chechen (82%) ethnic groups and somewhat less frequently in the Dagestani (57.1%) and Karachay-Circassian (54%) ethnic groups. In the Chechen and Ossetian-Alanian ethnic groups, when these mutations were detected, severe pancreatic insufficiency was established in 40.5% and 100% of cases, respectively. Pseudo-Bartter syndrome was diagnosed in 60% of cases with this genetic variant in a homozygous or compound heterozygous states during the patients’ first years of life. Indicators for the nutritional status of children with CF from different ethnic groups were significantly lower compared to those recorded officially in the 2021 Russian National Register of Patients with CF. Conclusion: it is necessary to study the course of CF and the state of nutritional status separately in each population and its connection with the identified genetic characteristics of the Russia’s North Caucasus ethnic groups. The genotype and phenotype patterns for these patients were the reason for the development of disorders of the exocrine function of the pancreas and pseudo-Bartter syndrome at an early age, which in its turn could lead to further development of nutritional deficiency.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"47 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141339544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ATYPICAL HEMOLYTIC-UREMIC SYNDROME IN CHILDREN IN BELARUS AND THE FIRST USE OF COMPLEMENT BLOCKING TREATMENT THERAPIES","authors":"S. Baiko, M. Charadnichenka","doi":"10.24110/0031-403x-2024-103-3-70-78","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-3-70-78","url":null,"abstract":"Atypical hemolytic uremic syndrome (aHUS) is one of the most complex and severe forms of thrombotic microangiopathy with an unfavorable outcome in its natural course. The purpose of this research was to study the epidemiology, demographics, course and outcomes of aHUS in comparison with patients with typical hemolytic uremic syndrome (tHUS) as well as to conduct a personal analysis of all cases of aHUS and evaluate the response to therapy, including comple-ment-blocking with Eculizumab. Materials and methods used: the study was longitudinal, obser-vational and included all 349 cases of HUS in children in Belarus in 2015-2023. A comparative analysis of demographic and clinical data, laboratory results and outcomes was performed in pa-tients with HUS hospitalized at the Center for Pediatric Nephrology and Renal Replacement Therapy of the Republic of Belarus (Minsk, Belarus). Results: of 349 HUS cases, the proportion of aHUS was 3,7% (13). Children with aHUS were older (4,6 (1,6; 6,7) v. 2,7 (1,7; 4,8) y/o with tHUS) due to the portion of patients older than 5 y/o (46%). In aHUS, severe central nervous system disorders were more often observed (62% v. 14%, p=0,002), the development of critical conditions requiring transfer to mechanical ventilation (39% v. 9%, p=0,006), prolonged anuria with the need for dialysis therapy in 100% of cases and severe adverse outcomes (death or end-stage renal disease) during natural course (66,0% v. 2,7%, p<0,001). The most common trigger for aHUS was acute intestinal infections in 54% of cases. A genetic study was performed in 9 (69%) children with aHUS and in 8 (89%) of them the CFHR3/CFHR1 deletions were detected: in 4 cases (3 hetero- and a single homozygous) and heterozygous pathogenic and probably patho-genic gene mutations, CFHR5 in 2 cases, CFH in a single case and combined CD46 and CFI in a single case as well. Antibodies to complement factor H were detected in 5 patients, 3 of which had a CFHR3/CFHR1 deletion. Therapy with a biosimilar of the original Eculizumab showed its effectiveness in aHUS: in 3 (100%) children it was possible to prevent the return of the disease in the kidney graft, in single patient who did not receive prophylaxis it was able to block the recur-rence of aHUS in the transplanted kidney while preserving its function, in 3 (100%) patients with late administration of treatment the urine output was restored after prolonged anuria (24, 33 and 59 days); in a single child with the antibody variant of aHUS, with early administration of the drug, renal function was preserved. No complications of complement blocking therapy were not-ed. Conclusions: the introduction into clinical practice of a biosimilar of the original Eculizumab in children in Belarus has significantly improved the outcomes and prognosis of the disease.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"18 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141342750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborns from mothers who have had COVID-19 during pregnancy: describing critical conditions during the neonatal period","authors":"S. Bychkova, G. Mal’gina, M. Dyakova, G. N. Chistyakova, D. Abakarova","doi":"10.24110/0031-403x-2024-103-1-58-65","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-58-65","url":null,"abstract":"Significant progress has been achieved in the study of COVID-19 so far. Some authors prove an increase in the frequency of critical conditions and the overall morbidity of newborns from mothers who have had COVID-19 during pregnancy. Materials and methods used: a prospective cohort study was conducted in Jan. 2021-Dec. 2022 comparing two groups of 107 each of neonates born in severe condition. In the first group of newborns, mothers were diagnosed with COVID-19 during pregnancy; in the second group, mothers did not have acute respiratory viral diseases. Results: children from mothers who had COVID-19 were statistically significantly more likely to have respiratory disorders (p<0.001), congenital pneumonia (p<0.001), perinatal period infection (p<0.001), intraventricular hemorrhages (p<0.001) and hyperbilirubinemia (p=0.040). In the blood test, a statistically significant decrease in the content of erythrocytes, hemoglobin and hematocrit values (p<0.001), lymphocytes (p=0.041) and band neutrophils was noted. A biochemical blood test revealed an increase in total bilirubin (p=0.034) and creatinine (p=0.030). The most critical is the birth of a child within 1st to 3rd weeks after the mother’s COVID-19, when the highest incidence of pneumonia and DIC syndrome was recorded in newborns, OR=6.8 [1.95; 23.66] and deaths, OR=17.75 [2.08; 150.93]. More distant consequences can be considered fetal growth retardation syndrome, OR=1.8 [1.55; 5.87], increased incidence of malformations and minor anomalies in the development of the newborn, OR=1.75 [1.02; 4.90]. Conclusion: morbidity and severity of the condition of the newborn depends on the period between the infectious process of COVID-19 of the mother and the birth of the child.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"10 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying and analyzing cases with negative impact on the quality of intensive care in the neonatal ICU","authors":"E. Shestak, D. Svetlakova, O. P. Kovtun","doi":"10.24110/0031-403x-2024-103-1-95-105","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-95-105","url":null,"abstract":"Adverse events (AEs) during the provision of medical care, especially in such intensive and high-tech departments as the neonatal intensive care unit (NICU), inevitably occur. However, identifying these cases and critically analyzing the results obtained can significantly improve the quality of medical care and prevent or lower their further occurrence. The purpose of this research was to identify and conduct an analysis of negative cases/adverse events (hereinafter referred to as ‘cases’) by surveying employees in order to improve the quality of medical care in the NICU. Materials and methods used: a single-center cohort study was conducted at the Newborns’ Resuscitation and Intensive Care Unit with the Yekaterinburg Clinical Perinatal Center (Yekaterinburg, Sverdlovsk Oblast, Russia) during six months in 2022. 15 physicians and 27 nurses took part in the study filling out a formalized questionnaire. During this period, 411 patients were admitted at the NICU. Results: 200 cases were registered that had a negative impact on the quality of medical care, of which, according to possible harm to the patient, they were distributed as follows: no harm to the patient - 40 (20.0%), 95% CI (14.4-25.5), could cause harm, but did not reach the patient - 29 (14.5%), 95% CI (9.7-19.2), reached the patient, but did not harm - 74 (37.0%), 95% CI (29 ,4-44.5), probably caused harm to the patient - 57 (28.5%), 95% CI (21.8-35.1). Among the root causes of cases, the following were identified: physician (in-/lack of) competence - 115 (57.5%), 95% CI (48.1-66.8), nurse competence - 34 (17.0%), 95% CI (11.8-22.1 ), updating and maintenance of equipment - 33 (16.5%), 95% CI (11.4-21.5), competencies of physician and nurse combined - 10 (5.0%), 95% CI (2.2-7 ,7), organizational issues - 5 (2.5%), 95% CI (0.5-4.4), psychologist’s part of work - 3 (1.5%), 95% CI (0-3.0). 186 (93%), 95% CI (81.0-100) cases were considered preventable and 14 (7%) 95% CI (3.7-10.2) cases were recognized as probably preventable; no unpreventable cases were identified during the study. Conclusion: the study results revealed that ca. 50% of NICU patients experience AEs during admission process. The competencies of medical personnel are in first place in terms of the root causes of cases, and no unpreventable cases were identified during the study. Based on the findings of the study, a set of organizational measures to prevent AEs in the NICUs was developed by the Authors.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"7 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute flaccid paralysis in a child due to cervical intramedullary tumor: a clinical case","authors":"E. G. Seliverstova, E. S. Druzhinina, V. Voitenkov, A. K. Shakaryan, U.V. Kushel, S.V. Shakhgildyan","doi":"10.24110/0031-403x-2024-103-1-179-183","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-179-183","url":null,"abstract":"Acute flaccid paresis (AFP) is a clinical syndrome complex that requires clinicians to have a wide range of knowledge about the possible causes of its development. The development of AFP can be caused by both an infectious process (inflammatory damage to the spinal cord or its roots) as well as non-infectious reasons. In particular, a rare cause of the development of AFP can be spinal cord neoplasms which require prompt detection and accurate early diagnosis. For these purposes, in addition to clinical data, it is necessary to involve a complex of neurophysiological and neuroimaging examination methods. A clinical observation of AFP in an 8-year-old patient caused by an intramedullary tumor, the process of differential diagnosis and treatment are presented.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"6 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}