Tatyana V. Gabrusskaya, Yana V. Panutina, M. O. Revnova, M. M. Kostik
Background . Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive syndrome, physical developmental delay, nephrocalcinosis. The rarity of this disease, clinical polymorphism, non-specificity of complains and signs are the major reasons of hypophosphatasia late diagnosis. The enzyme replacement therapy with recombinant alkaline phosphatase (asfotase alfa) can be used for treatment of severe forms of disease. Clinical Case Description . The girl (1 y 4 m) was routinely admitted with complains of physical developmental delay and psychomotor retardation, deformation of lower limbs, chest, gait abnormality, teeth loss and with diagnosis «protein-calorie malnutrition». Rickets-like changes in skeleton, myopathic syndrome, early normal teeth loss, hepatomegaly were revealed. Reduced activity of alkaline phosphatase in blood serum (33 u/l; reference range 156–369 u/l) was revealed. The infantile hypophosphatasia has been diagnosed. Due to molecular genetic testing of ALPL gene we revealed pathogenic variants c.526G>A (p.Ala176Thr) and c.1375G>A (p.Val459Met) in compound heterozygous state. The asphotase alpha therapy was initiated at the age of 1 y 10 m, the dose was 2 mg/kg subcutaneously 3 times a week. The results of 6 months of the therapy are the following: significant increase in the activity of alkaline phosphatase (maximum 4400 u/l), body weight (+ 2 kg), growth (+ 6 cm), reduction of bone deformation, normalisation of muscle tone and gait, exercise tolerance. The patient tolerated the drug administration well. Rarely there were hyperemia zones up to 4 cm in diameter with moderate induration at the injection site but they spontaneous disappeared in 2–3 days though. Conclusion. Patients with rickets-like diseases and low alkaline phosphatase activity requires performing of molecular genetic testing to confirm hypophosphatasia. Timely diagnosis and early initiation of enzyme replacement therapy can significantly improve the quality of life of children with hypophosphatasia.
{"title":"Инфантильная форма гипофосфатазии: клинический случай","authors":"Tatyana V. Gabrusskaya, Yana V. Panutina, M. O. Revnova, M. M. Kostik","doi":"10.15690/vsp.v18i5.2065","DOIUrl":"https://doi.org/10.15690/vsp.v18i5.2065","url":null,"abstract":"Background . Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive syndrome, physical developmental delay, nephrocalcinosis. The rarity of this disease, clinical polymorphism, non-specificity of complains and signs are the major reasons of hypophosphatasia late diagnosis. The enzyme replacement therapy with recombinant alkaline phosphatase (asfotase alfa) can be used for treatment of severe forms of disease. Clinical Case Description . The girl (1 y 4 m) was routinely admitted with complains of physical developmental delay and psychomotor retardation, deformation of lower limbs, chest, gait abnormality, teeth loss and with diagnosis «protein-calorie malnutrition». Rickets-like changes in skeleton, myopathic syndrome, early normal teeth loss, hepatomegaly were revealed. Reduced activity of alkaline phosphatase in blood serum (33 u/l; reference range 156–369 u/l) was revealed. The infantile hypophosphatasia has been diagnosed. Due to molecular genetic testing of ALPL gene we revealed pathogenic variants c.526G>A (p.Ala176Thr) and c.1375G>A (p.Val459Met) in compound heterozygous state. The asphotase alpha therapy was initiated at the age of 1 y 10 m, the dose was 2 mg/kg subcutaneously 3 times a week. The results of 6 months of the therapy are the following: significant increase in the activity of alkaline phosphatase (maximum 4400 u/l), body weight (+ 2 kg), growth (+ 6 cm), reduction of bone deformation, normalisation of muscle tone and gait, exercise tolerance. The patient tolerated the drug administration well. Rarely there were hyperemia zones up to 4 cm in diameter with moderate induration at the injection site but they spontaneous disappeared in 2–3 days though. Conclusion. Patients with rickets-like diseases and low alkaline phosphatase activity requires performing of molecular genetic testing to confirm hypophosphatasia. Timely diagnosis and early initiation of enzyme replacement therapy can significantly improve the quality of life of children with hypophosphatasia.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"15 1","pages":"452-457"},"PeriodicalIF":0.0,"publicationDate":"2020-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85206653","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}
Нина Александровна Любимова, И. В. Фридман, О. В. Голева, Людмила Станиславовна Сорокина, Р. К. Раупов, Р. В. Идрисова, Сусанна Михайловна Харит, Михаил Михайлович Костик
Background. Patients with juvenile idiopathic arthritis (JIA) can have low levels of antibodies to vaccine antigens due to immunologic features of the main disease, disruptions in vaccination schedule and immunosuppressive drugs administration Objective. The aim of the study was to examine the status of postvaccinal immunity and determine the factors associated with preservation of protective level of antibodies in patients with JIA. Methods. This cross-sectional study included patients with JIA at the age from 2 to 17 years old vaccinated under the age of two (before JIA) against measles, rubella, parotitis, hepatitis B and diphtheria. Levels of IgG to vaccine antigens were measured by enzyme immunoassay. The minimum protective level of anti-measles IgG was esteemed as 0.18 IU/ml, antibodies to rubella — 10 IU/ml, for parotitis — COI > 1.0, for hepatitis B — 10 mIU/ml, antibodies to diphtheria — 0.09 IU/ml. Results. The study included 90 patients with JIA (71% of girls) at the age (median) 11.3 (7.5; 14.9) years. The age of JIA manifestation was 6.0 (4.0; 8.0) years, disease duration — 4.0 (2.0; 7.3) years. Glucocorticosteroids administration in anamnesis or at study entry was recorded in 24/88 (27%) patients, methotrexate — 81/88 (92%), genetically engineered biologic drugs — 54/89 (61%). Protective level of antibodies to measles virus was revealed in 45 (50%) children with JIA, to rubella virus — in 88 (98%), to parotitis — in 68 (76%), to hepatitis B — in 49 (54%), to diphtherial anatoxin — in 45 (50%). The decrease of postvaccinal immunity level was associated with JIA duration and glucocorticosteroids administration (against diphtheria) duration, as well as drop-out immunization (against measles). Conclusion. Major part of children with JIA have no protection against measles, parotitis, hepatitis B or diphtheria. High risk of progression of such vaccine-preventable diseases in these children demands development of individual programs of immunization.
{"title":"Сохранность поствакцинального иммунитета против кори, краснухи, эпидемического паротита, гепатита В и дифтерии у пациентов с ювенильным идиопатическим артритом, планово иммунизированных в возрасте до 2 лет: предварительные результаты одномоментного исследования","authors":"Нина Александровна Любимова, И. В. Фридман, О. В. Голева, Людмила Станиславовна Сорокина, Р. К. Раупов, Р. В. Идрисова, Сусанна Михайловна Харит, Михаил Михайлович Костик","doi":"10.15690/VSP.V18I6.2063","DOIUrl":"https://doi.org/10.15690/VSP.V18I6.2063","url":null,"abstract":"Background. Patients with juvenile idiopathic arthritis (JIA) can have low levels of antibodies to vaccine antigens due to immunologic features of the main disease, disruptions in vaccination schedule and immunosuppressive drugs administration Objective. The aim of the study was to examine the status of postvaccinal immunity and determine the factors associated with preservation of protective level of antibodies in patients with JIA. Methods. This cross-sectional study included patients with JIA at the age from 2 to 17 years old vaccinated under the age of two (before JIA) against measles, rubella, parotitis, hepatitis B and diphtheria. Levels of IgG to vaccine antigens were measured by enzyme immunoassay. The minimum protective level of anti-measles IgG was esteemed as 0.18 IU/ml, antibodies to rubella — 10 IU/ml, for parotitis — COI > 1.0, for hepatitis B — 10 mIU/ml, antibodies to diphtheria — 0.09 IU/ml. Results. The study included 90 patients with JIA (71% of girls) at the age (median) 11.3 (7.5; 14.9) years. The age of JIA manifestation was 6.0 (4.0; 8.0) years, disease duration — 4.0 (2.0; 7.3) years. Glucocorticosteroids administration in anamnesis or at study entry was recorded in 24/88 (27%) patients, methotrexate — 81/88 (92%), genetically engineered biologic drugs — 54/89 (61%). Protective level of antibodies to measles virus was revealed in 45 (50%) children with JIA, to rubella virus — in 88 (98%), to parotitis — in 68 (76%), to hepatitis B — in 49 (54%), to diphtherial anatoxin — in 45 (50%). The decrease of postvaccinal immunity level was associated with JIA duration and glucocorticosteroids administration (against diphtheria) duration, as well as drop-out immunization (against measles). Conclusion. Major part of children with JIA have no protection against measles, parotitis, hepatitis B or diphtheria. High risk of progression of such vaccine-preventable diseases in these children demands development of individual programs of immunization.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"94 1","pages":"435-441"},"PeriodicalIF":0.0,"publicationDate":"2020-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76839285","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}
PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome, is characterized by the sudden onset of obsessive-compulsive syndrome and accompanied by anxiety, emotional lability and other symptoms. PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections, is a subtype of PANS. Modern data on PANS/PANDAS etiology, pathogenesis, diagnostics and management is presented in this article. Therapeutic decisions on using anti-inflammatory and immunotropic therapy including non-steroidal anti-inflammatory drugs, glucocorticoids, intravenous immunoglobulin, plasmapheresis, rituximab and mycophenolate mofetil are analysed.
{"title":"Современные подходы к диагностике и лечению PANS/PANDAS","authors":"И. А. Костик, М. М. Костик","doi":"10.15690/VSP.V18I5.2055","DOIUrl":"https://doi.org/10.15690/VSP.V18I5.2055","url":null,"abstract":"PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome, is characterized by the sudden onset of obsessive-compulsive syndrome and accompanied by anxiety, emotional lability and other symptoms. PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections, is a subtype of PANS. Modern data on PANS/PANDAS etiology, pathogenesis, diagnostics and management is presented in this article. Therapeutic decisions on using anti-inflammatory and immunotropic therapy including non-steroidal anti-inflammatory drugs, glucocorticoids, intravenous immunoglobulin, plasmapheresis, rituximab and mycophenolate mofetil are analysed.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"59 1","pages":"324-338"},"PeriodicalIF":0.0,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85622805","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}
N. Murashkin, A. A. Savelova, R. A. Ivanov, D. V. Fedorov, L. A. Opryatin, W. Ahmad
1 Национальный медицинский исследовательский центр здоровья детей, Москва, Российская Федерация 2 Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский Университет), Москва, Российская Федерация 3 Центральная государственная медицинская академия Управления делами Президента Российской Федерации, Москва, Российская Федерация 4 Кабардино-Балкарский государственный университет им. Х.М. Бербекова, Нальчик, Российская Федерация
{"title":"Modern View on the Role of Epidermal Barrier in Atopic Phenotype Development in Children","authors":"N. Murashkin, A. A. Savelova, R. A. Ivanov, D. V. Fedorov, L. A. Opryatin, W. Ahmad","doi":"10.15690/vsp.v18i5.2064","DOIUrl":"https://doi.org/10.15690/vsp.v18i5.2064","url":null,"abstract":"1 Национальный медицинский исследовательский центр здоровья детей, Москва, Российская Федерация 2 Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский Университет), Москва, Российская Федерация 3 Центральная государственная медицинская академия Управления делами Президента Российской Федерации, Москва, Российская Федерация 4 Кабардино-Балкарский государственный университет им. Х.М. Бербекова, Нальчик, Российская Федерация","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"3 1","pages":"386-392"},"PeriodicalIF":0.0,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74149390","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}
Background. QTc elongation is the risk factor of sudden cardiac death. Patients with type 1 diabetes (T1D) can have QTc elongation due to hypoglycemia and cardiac autonomic neuropathy (CAN). The separate role of this two factors in QTc elongation development in T1D patients is still unknown. Objective. The aim was to study the role of cardiac autonomic neuropathy and hypoglycemia as independent risk factors of QTc elongation at night in adolescents with T1D. Methods. Patients at the age of 10-17 years old with T1D were enrolled in the cohort study. All patients have undergone simultaneous 24-hour monitoring of electrocardiogram and glycemia. Results of nocturnal monitoring (23:00-07:00) were estimated. QTc elongation > 450 ms was regarded pathological. CAN was diagnosed at decrease of ≥ 2 time domain parameters (SDNN 9.0 mmol/L. Results. QTc elongation > 450 ms was revealed in 28 out of 100 patients. All patients with QTc > 450 ms were similar on gender, age, HbA1C level with patients without any QTc elongation but they have longer history of T1D and higher frequency of 2nd level hypoglycemia and asymptomatic nocturnal hypoglycemia. According to the data from multivariate regression analysis independent predictors of QTc elongation were the following: CAN — odds ratio (OR) 9.0 (95% confidential interval [CI] 3.3-24.2), 2nd level hypoglycemia — OR 4.4 (95% CI 1.4-14.2), asymptomatic nocturnal hypoglycemia — OR 2.9 (95% CI 1.1-7.7) and T1D duration — OR 1.3 (95% CI 1.0-1.5). Conclusion. CAN and hypoglycemia (both clinically significant and asymptomatic nocturnal) are independent predictors of QTc elongation in adolescents with T1D.
背景。QTc延长是心源性猝死的危险因素。1型糖尿病(T1D)患者可因低血糖和心脏自主神经病变(can)而出现QTc伸长。这两个因素在T1D患者QTc伸长发展中的单独作用尚不清楚。目标。目的是研究心脏自主神经病变和低血糖作为青少年T1D患者夜间QTc延长的独立危险因素的作用。方法。年龄在10-17岁的T1D患者被纳入队列研究。所有患者24小时同时监测心电图和血糖。估计夜间监测(23:00-07:00)的结果。QTc伸长> 450 ms为病理。≥2个时域参数下降(SDNN 9.0 mmol/L)诊断为CAN。结果。100例患者中有28例QTc伸长> 450 ms。QTc > 450 ms患者的性别、年龄、HbA1C水平与QTc未延长患者相似，但T1D病史较长，发生2级低血糖和无症状夜间低血糖的频率较高。根据多变量回归分析的数据，QTc延长的独立预测因子如下:CAN -比值比(OR) 9.0(95%可信区间[CI] 3.3-24.2)， 2级低血糖- OR 4.4 (95% CI 1.4-14.2)，无症状夜间低血糖- OR 2.9 (95% CI 1.1-7.7)和T1D持续时间- OR 1.3 (95% CI 1.0-1.5)。结论。CAN和低血糖(临床显著和夜间无症状)是青少年T1D患者QTc延长的独立预测因子。
{"title":"Кардиоваскулярная автономная нейропатия и гипогликемия как независимые предикторы удлинения интервала QTc в ночные часы у детей подросткового возраста с сахарным диабетом 1-го типа: когортное исследование","authors":"А. Н. Демяненко, И. Л. Алимова","doi":"10.15690/VSP.V18I4.2043","DOIUrl":"https://doi.org/10.15690/VSP.V18I4.2043","url":null,"abstract":"Background. QTc elongation is the risk factor of sudden cardiac death. Patients with type 1 diabetes (T1D) can have QTc elongation due to hypoglycemia and cardiac autonomic neuropathy (CAN). The separate role of this two factors in QTc elongation development in T1D patients is still unknown. Objective. The aim was to study the role of cardiac autonomic neuropathy and hypoglycemia as independent risk factors of QTc elongation at night in adolescents with T1D. Methods. Patients at the age of 10-17 years old with T1D were enrolled in the cohort study. All patients have undergone simultaneous 24-hour monitoring of electrocardiogram and glycemia. Results of nocturnal monitoring (23:00-07:00) were estimated. QTc elongation > 450 ms was regarded pathological. CAN was diagnosed at decrease of ≥ 2 time domain parameters (SDNN 9.0 mmol/L. Results. QTc elongation > 450 ms was revealed in 28 out of 100 patients. All patients with QTc > 450 ms were similar on gender, age, HbA1C level with patients without any QTc elongation but they have longer history of T1D and higher frequency of 2nd level hypoglycemia and asymptomatic nocturnal hypoglycemia. According to the data from multivariate regression analysis independent predictors of QTc elongation were the following: CAN — odds ratio (OR) 9.0 (95% confidential interval [CI] 3.3-24.2), 2nd level hypoglycemia — OR 4.4 (95% CI 1.4-14.2), asymptomatic nocturnal hypoglycemia — OR 2.9 (95% CI 1.1-7.7) and T1D duration — OR 1.3 (95% CI 1.0-1.5). Conclusion. CAN and hypoglycemia (both clinically significant and asymptomatic nocturnal) are independent predictors of QTc elongation in adolescents with T1D.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"8 1","pages":"264-269"},"PeriodicalIF":0.0,"publicationDate":"2019-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87038720","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}
Н. В. Бучинская, Е. А. Исупова, Михаил Михайлович Костик
Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifestations of homocystinuria are: myopia, ectopia lentis, psychomotor retardation, learning difficulties, mental retardation, mental illnesses, behaviour problems, paroxysms, extrapyramidal symptoms, skeletal anomalies (body height), long limbs — dolichostenomelia and arachnodactylia (Marfan Phenotype), pectus carinatum, valgus lower limbs, scoliosis, osteoporosis, thromboembolic disorders. Diagnostics of homocystinuria is based on clinical findings and laboratory changes (increase of methionine and homocysteine levels in serum). There is prenatal and DNA-diagnostics (genetic variants in CBS gene). Revealing of homocystinuria demands examination of first-degree relatives. Therapy of patients with homocystinuria includes not only diet therapy but also pyridoxine, folic acid, betaine administration. Syndromic concomitant therapy is also used. The description of the patient with severe B6-resistant form of homocystinuria is given in this article.
{"title":"Гомоцистинурия: литературный обзор и описание клинического случая","authors":"Н. В. Бучинская, Е. А. Исупова, Михаил Михайлович Костик","doi":"10.15690/VSP.V18I3.2036","DOIUrl":"https://doi.org/10.15690/VSP.V18I3.2036","url":null,"abstract":"Homocystinuria is rare autosomal-recessive monogenic disorder associated with disturbance of methionine metabolism due to liver enzyme cystathionine--synthetase (CBS) deficit. That in turn causes elevated concentration of homocystein and its metabolites in blood and urine. The main clinical manifestations of homocystinuria are: myopia, ectopia lentis, psychomotor retardation, learning difficulties, mental retardation, mental illnesses, behaviour problems, paroxysms, extrapyramidal symptoms, skeletal anomalies (body height), long limbs — dolichostenomelia and arachnodactylia (Marfan Phenotype), pectus carinatum, valgus lower limbs, scoliosis, osteoporosis, thromboembolic disorders. Diagnostics of homocystinuria is based on clinical findings and laboratory changes (increase of methionine and homocysteine levels in serum). There is prenatal and DNA-diagnostics (genetic variants in CBS gene). Revealing of homocystinuria demands examination of first-degree relatives. Therapy of patients with homocystinuria includes not only diet therapy but also pyridoxine, folic acid, betaine administration. Syndromic concomitant therapy is also used. The description of the patient with severe B6-resistant form of homocystinuria is given in this article.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"7 1","pages":"187-195"},"PeriodicalIF":0.0,"publicationDate":"2019-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81355568","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}
Михаил Михайлович Костик, О. Л. Копчак, А. И. Тащилкин, В. И. Зорин, Алексей Сергеевич Малетин, А. Ю. Мушкин
Background . Patients with haematogenous and non-bacterial osteomyelitis have similar clinical symptoms (pain in the nidus area, soft tissue swelling, fever) and laboratory signs (increased erythrocyte sedimentation rate, leukocyte count, C-reactive protein concentration). The criteria for distinguishing these two states are not determined. Objective . Our aim was to determine diagnostic criteria to differentiate haematogenous and non-bacterial osteomyelitis. Methods . The study included data of patients under the age of 18 years with non-bacterial or haematogenous osteomyelitis hospitalised to two clinical centres from 2009 to 2016. The diagnosis was established and re-verified according to archival data (medical history) and after two years of observation (at least once a year). Clinical, anamnestic and laboratory data (haemoglobin, leukocytes, leukocyte formula, platelets, ESR and C-reactive protein, CRP) as well as the results of radiation diagnostics (X-ray, CT scan, MRI or osteosyntigraphy) obtained at the disease onset were taken into account as potential diagnostic criteria. Results . Out of 145 patients with non-bacterial or haematogenous osteomyelitis, the diagnosis was re-verified in 138, of them non-bacterial osteomyelitis — in 91, haematogenous osteomyelitis — in 47. The following criteria had the highest diagnostic value for establishing cases of non-bacterial osteomyelitis: detection of bone destruction foci surrounded by osteosclerosis area [sensitivity (Se) 1.0; specificity (Sp) 0.79]; absence of fever (Se 0.66; Sp 0.92); the number of bone destruction foci > 1 (Se 0.73; Sp 1.0); CRP 55 mg/L (Se 0.94; Sp 0.73); negative results of bacteriological examination of the material from the bone destruction focus (Se 1.0; Sp 0.67). Conclusion . Diagnostic criteria for differentiation of non-bacterial and haematogenous osteomyelitis have been described. Further research on the efficacy of using these criteria to reduce the risk of diagnostic errors, decrease the diagnostic pause, reduce the risk of non-bacterial osteomyelitis complications is needed.
{"title":"КРИТЕРИИ ДИФФЕРЕНЦИАЦИИ НЕБАКТЕРИАЛЬНОГО И ГЕМАТОГЕННОГО ОСТЕОМИЕЛИТОВ: ИССЛЕДОВАНИЕ \"СЛУЧАЙ-КОНТРОЛЬ\" С ПРОСПЕКТИВНОЙ ВЕРИФИКАЦИЕЙ ИСХОДОВ","authors":"Михаил Михайлович Костик, О. Л. Копчак, А. И. Тащилкин, В. И. Зорин, Алексей Сергеевич Малетин, А. Ю. Мушкин","doi":"10.15690/VSP.V17I6.1976","DOIUrl":"https://doi.org/10.15690/VSP.V17I6.1976","url":null,"abstract":"Background . Patients with haematogenous and non-bacterial osteomyelitis have similar clinical symptoms (pain in the nidus area, soft tissue swelling, fever) and laboratory signs (increased erythrocyte sedimentation rate, leukocyte count, C-reactive protein concentration). The criteria for distinguishing these two states are not determined. Objective . Our aim was to determine diagnostic criteria to differentiate haematogenous and non-bacterial osteomyelitis. Methods . The study included data of patients under the age of 18 years with non-bacterial or haematogenous osteomyelitis hospitalised to two clinical centres from 2009 to 2016. The diagnosis was established and re-verified according to archival data (medical history) and after two years of observation (at least once a year). Clinical, anamnestic and laboratory data (haemoglobin, leukocytes, leukocyte formula, platelets, ESR and C-reactive protein, CRP) as well as the results of radiation diagnostics (X-ray, CT scan, MRI or osteosyntigraphy) obtained at the disease onset were taken into account as potential diagnostic criteria. Results . Out of 145 patients with non-bacterial or haematogenous osteomyelitis, the diagnosis was re-verified in 138, of them non-bacterial osteomyelitis — in 91, haematogenous osteomyelitis — in 47. The following criteria had the highest diagnostic value for establishing cases of non-bacterial osteomyelitis: detection of bone destruction foci surrounded by osteosclerosis area [sensitivity (Se) 1.0; specificity (Sp) 0.79]; absence of fever (Se 0.66; Sp 0.92); the number of bone destruction foci > 1 (Se 0.73; Sp 1.0); CRP 55 mg/L (Se 0.94; Sp 0.73); negative results of bacteriological examination of the material from the bone destruction focus (Se 1.0; Sp 0.67). Conclusion . Diagnostic criteria for differentiation of non-bacterial and haematogenous osteomyelitis have been described. Further research on the efficacy of using these criteria to reduce the risk of diagnostic errors, decrease the diagnostic pause, reduce the risk of non-bacterial osteomyelitis complications is needed.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"66 1","pages":"458-464"},"PeriodicalIF":0.0,"publicationDate":"2019-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83896804","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}
Background . Juvenile myelomonocytic leukaemia is a malignant disease with clonal impairment of haematopoiesis, characterized by excessive proliferation of monocytic and granulocytic sprout. Currently, the only way to cure it is hematopoietic stem cell transplantation. Vigorous treatment is accompanied by the development of a large number of complications, including nutritional ones. Nutritional support for these patients is fraught with many difficulties due to the treatment characteristics, patient’s condition, and complications of therapy. Description of a Clinical Case . A child diagnosed with juvenile myelomonocytic leukaemia, 1 year and 11 months old, received antineoplastic therapy — chemotherapy and bone marrow transplantation. In the course of treatment and after it, severe complications developed, which required various types of nutritional support, depending on the clinical situation. It is illustrated how important timely nutritional support is and how long and difficult nutritional disorders can proceed in these children even after termination of the main therapy. Conclusion . Preventive nutritional support with infant formulas is advisable for children with oncological diseases prior to treatment even with normal nutritional indicators. With the potential long-term impossibility of adequate alimentation per os, it is advisable to consider the placement of a gastrostomy tube for enteral nutrition since problems with appetite can be very long.
{"title":"Нутритивная поддержка ребенка с ювенильным миеломоноцитарным лейкозом на различных этапах противоопухолевого лечения: клинический случай","authors":"М. С. Шамсутдинова, Ю. А. Алымова, А. Ю. Вашура","doi":"10.15690/vsp.v17i6.1980","DOIUrl":"https://doi.org/10.15690/vsp.v17i6.1980","url":null,"abstract":"Background . Juvenile myelomonocytic leukaemia is a malignant disease with clonal impairment of haematopoiesis, characterized by excessive proliferation of monocytic and granulocytic sprout. Currently, the only way to cure it is hematopoietic stem cell transplantation. Vigorous treatment is accompanied by the development of a large number of complications, including nutritional ones. Nutritional support for these patients is fraught with many difficulties due to the treatment characteristics, patient’s condition, and complications of therapy. Description of a Clinical Case . A child diagnosed with juvenile myelomonocytic leukaemia, 1 year and 11 months old, received antineoplastic therapy — chemotherapy and bone marrow transplantation. In the course of treatment and after it, severe complications developed, which required various types of nutritional support, depending on the clinical situation. It is illustrated how important timely nutritional support is and how long and difficult nutritional disorders can proceed in these children even after termination of the main therapy. Conclusion . Preventive nutritional support with infant formulas is advisable for children with oncological diseases prior to treatment even with normal nutritional indicators. With the potential long-term impossibility of adequate alimentation per os, it is advisable to consider the placement of a gastrostomy tube for enteral nutrition since problems with appetite can be very long.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"83 1","pages":"490-495"},"PeriodicalIF":0.0,"publicationDate":"2019-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74561478","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}
Л. В. Ольхова, О. Г. Желудкова, В. Е. Попов, Алексей Николаевич Кисляков, Т. В. Басалай, С. В. Горбатых, Д. А. Скобеев, Н. И. Зелинская
Background . Ependymomas are a group of glial tumours, usually occurring in the posterior cranial fossa, less often — in the lateral ventricles and spinal cord. Most often, the recurrence of ependymomas occurs in primary sites, or in the central nervous system (CNS). Ependymoma metastasis beyond the craniospinal system occurs rarely if ever. Description of a Clinical Case . A clinical example of extraneural metastasis to the bones and bone marrow in a 10-year-old patient with supratentorial anaplastic ependymoma after complex therapy has been presented. A review of published cases of the development of extraneural ependymoma metastasis in children has been presented. An attempt was made to consider possible risk factors for their development. Conclusion . Ependymal tumours are capable of extraneural metastasis to the bone and hematopoietic systems. Continued growth and metastasis lead to extremely unfavourable prognosis for the disease.
{"title":"Экстраневральное метастазирование эпендимомы у детей: клинический случай","authors":"Л. В. Ольхова, О. Г. Желудкова, В. Е. Попов, Алексей Николаевич Кисляков, Т. В. Басалай, С. В. Горбатых, Д. А. Скобеев, Н. И. Зелинская","doi":"10.15690/vsp.v17i6.1979","DOIUrl":"https://doi.org/10.15690/vsp.v17i6.1979","url":null,"abstract":"Background . Ependymomas are a group of glial tumours, usually occurring in the posterior cranial fossa, less often — in the lateral ventricles and spinal cord. Most often, the recurrence of ependymomas occurs in primary sites, or in the central nervous system (CNS). Ependymoma metastasis beyond the craniospinal system occurs rarely if ever. Description of a Clinical Case . A clinical example of extraneural metastasis to the bones and bone marrow in a 10-year-old patient with supratentorial anaplastic ependymoma after complex therapy has been presented. A review of published cases of the development of extraneural ependymoma metastasis in children has been presented. An attempt was made to consider possible risk factors for their development. Conclusion . Ependymal tumours are capable of extraneural metastasis to the bone and hematopoietic systems. Continued growth and metastasis lead to extremely unfavourable prognosis for the disease.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"24 1","pages":"480-489"},"PeriodicalIF":0.0,"publicationDate":"2019-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78235968","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}
Д. В. Прометной, Ю. С. Александрович, Константин Викторович Пшениснов, Е. Д. Теплякова, С. Разумов
Background . Diagnostic mistakes due to incomplete examination of patients are the leading cause of death. The prevalence of such mistakes and their association with treatment outcomes in our country remain uninvestigated. Objective . Our aim was to study the frequency of recording vital and laboratory parameters and its relationship with death in children admitted to a hospital for emergency medical care. Methods . In our case-control study we analysed the data of medical records of an inpatient (Form 003/u) — patients for intensive care at the age of 0–17 years who were admitted to first-level (n = 13) and second-level (n = 5) hospitals of the Rostov Region (except for Rostov-on-Don) in 2006–2017. We considered the frequency of recording vital (heart rate, respiration rate; blood pressure; oxygen saturation of arterial blood; body temperature) and laboratory (blood count, haemoglobin, hematocrit, total protein, glucose, urea, creatinine, pH, pCO2, pO2, BE, sodium and potassium levels) parameters upon admission to in-patient hospital and when transferred to the intensive care unit (ICU). The association of the frequency of recording these parameters with hospital outcome was assessed using multivariate logistic regression analysis adjusted for the effect of confounders (consultation by a resuscitationist of the resuscitation and consultation centre; the level of healthcare facility; admission time; the presence of infectious diseases and diseases that occurred in the perinatal period; the level of consciousness; the duration of the underlying disease before admission; the method of admission to a healthcare facility). Results . We studied the data of 61 children with a favourable (discharged from healthcare facilities) and 90 children with a fatal outcome in the in-patient hospital (76 — in the ICU). A fatal outcome in the in-patient hospital was associated with records of BE [odds ratio (OR) 3.25; 95% confidence interval (CI) 1.25–8.46)], total protein level (OR 0.19; 95% CI 0.05–0.79), urea (OR 0.24; 95% CI 0.06–0.87) and creatinine (OR 0.23; 95% CI 0.08–0.67) upon admission. A fatal outcome in the ICU was associated with records of systolic (OR 0.36; 95% CI 0.14–0.94) and diastolic (OR 0.30; 95% CI 0.12–0.80) blood pressure, SpO2 (OR 0.38; 95% CI 0.15–0.93) and body temperature (OR 0.32; 95% CI 0.11–0.90) upon admission to the unit. Conclusion . The association of the outcome with recording of vital (blood pressure, SpO2 and body temperature upon admission to the ICU) and laboratory (BE, total protein, urea, creatinine upon admission to a healthcare facility) parameters in children admitted to a hospital for emergency medical care indicates the need to control their clinical and paraclinic examination. A more complete examination of these children may be a reserve for reducing hospital mortality.
背景。由于对病人检查不完全而导致的诊断错误是导致死亡的主要原因。在我国，此类错误的发生率及其与治疗结果的关系仍未得到调查。目标。我们的目的是研究入院接受紧急医疗护理的儿童记录生命和实验室参数的频率及其与死亡的关系。方法。在我们的病例对照研究中，我们分析了2006-2017年在罗斯托夫地区(顿河畔罗斯托夫除外)的一级(n = 13)和二级(n = 5)医院住院的0-17岁重症监护患者的病历数据(003/u表)。我们考虑了记录生命周期(心率、呼吸频率;血压;动脉血氧饱和度;体温)和实验室(血细胞计数、血红蛋白、红细胞压积、总蛋白、葡萄糖、尿素、肌酐、pH值、二氧化碳分压、pO2、BE、钠和钾水平)参数在入院时和转到重症监护室(ICU)时。使用多变量logistic回归分析评估记录这些参数的频率与医院结果的关系，调整了混杂因素的影响(复苏和咨询中心的复苏员的咨询;保健设施的水平;入学时间;存在传染病和围产期发生的疾病;意识水平;入院前基础疾病的病程;进入医疗机构的方法)。结果。我们研究了61名病情好转的儿童(从医疗机构出院)和90名住院死亡的儿童(76名在ICU)的数据。住院患者的致命结果与BE记录相关[优势比(OR) 3.25;95%可信区间(CI) 1.25-8.46)]，总蛋白水平(OR 0.19;95% CI 0.05-0.79)，尿素(OR 0.24;95% CI 0.06-0.87)和肌酐(OR 0.23;95% CI 0.08-0.67)。ICU的致命结局与收缩压记录相关(OR 0.36;95% CI 0.14-0.94)和舒张压(OR 0.30;95% CI 0.12-0.80)血压，SpO2 (OR 0.38;95% CI 0.15-0.93)和体温(OR 0.32;95% CI 0.11-0.90)。结论。在医院接受紧急医疗护理的儿童中，结果与生命体征(进入ICU时的血压、SpO2和体温)和实验室参数(进入医疗机构时的BE、总蛋白、尿素、肌酐)记录的关联表明需要控制他们的临床和临床检查。对这些儿童进行更全面的检查可能是降低医院死亡率的储备。
{"title":"Регистрация витальных и лабораторных показателей и риск летального исхода у детей, госпитализированных для оказания экстренной медицинской помощи в стационары 1-го и 2-го уровней: исследование «случай-контроль»","authors":"Д. В. Прометной, Ю. С. Александрович, Константин Викторович Пшениснов, Е. Д. Теплякова, С. Разумов","doi":"10.15690/VSP.V17I6.1977","DOIUrl":"https://doi.org/10.15690/VSP.V17I6.1977","url":null,"abstract":"Background . Diagnostic mistakes due to incomplete examination of patients are the leading cause of death. The prevalence of such mistakes and their association with treatment outcomes in our country remain uninvestigated. Objective . Our aim was to study the frequency of recording vital and laboratory parameters and its relationship with death in children admitted to a hospital for emergency medical care. Methods . In our case-control study we analysed the data of medical records of an inpatient (Form 003/u) — patients for intensive care at the age of 0–17 years who were admitted to first-level (n = 13) and second-level (n = 5) hospitals of the Rostov Region (except for Rostov-on-Don) in 2006–2017. We considered the frequency of recording vital (heart rate, respiration rate; blood pressure; oxygen saturation of arterial blood; body temperature) and laboratory (blood count, haemoglobin, hematocrit, total protein, glucose, urea, creatinine, pH, pCO2, pO2, BE, sodium and potassium levels) parameters upon admission to in-patient hospital and when transferred to the intensive care unit (ICU). The association of the frequency of recording these parameters with hospital outcome was assessed using multivariate logistic regression analysis adjusted for the effect of confounders (consultation by a resuscitationist of the resuscitation and consultation centre; the level of healthcare facility; admission time; the presence of infectious diseases and diseases that occurred in the perinatal period; the level of consciousness; the duration of the underlying disease before admission; the method of admission to a healthcare facility). Results . We studied the data of 61 children with a favourable (discharged from healthcare facilities) and 90 children with a fatal outcome in the in-patient hospital (76 — in the ICU). A fatal outcome in the in-patient hospital was associated with records of BE [odds ratio (OR) 3.25; 95% confidence interval (CI) 1.25–8.46)], total protein level (OR 0.19; 95% CI 0.05–0.79), urea (OR 0.24; 95% CI 0.06–0.87) and creatinine (OR 0.23; 95% CI 0.08–0.67) upon admission. A fatal outcome in the ICU was associated with records of systolic (OR 0.36; 95% CI 0.14–0.94) and diastolic (OR 0.30; 95% CI 0.12–0.80) blood pressure, SpO2 (OR 0.38; 95% CI 0.15–0.93) and body temperature (OR 0.32; 95% CI 0.11–0.90) upon admission to the unit. Conclusion . The association of the outcome with recording of vital (blood pressure, SpO2 and body temperature upon admission to the ICU) and laboratory (BE, total protein, urea, creatinine upon admission to a healthcare facility) parameters in children admitted to a hospital for emergency medical care indicates the need to control their clinical and paraclinic examination. A more complete examination of these children may be a reserve for reducing hospital mortality.","PeriodicalId":10919,"journal":{"name":"Current Paediatrics","volume":"137 1","pages":"465-472"},"PeriodicalIF":0.0,"publicationDate":"2019-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73747792","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}
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