Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-3-7-14
V. Tatochenko, M. Bakradze, G. S. Vershinin, A. Babayan
Aim: To analyze the content of requests for telemedicine consultations (TMC), received by the National Medical Research Center for Children's Health, and suggest possible steps to perfect it. Design: Retrospective study. Material and methods. We analyzed the content of 167 TMC requests for patients with “general pediatric profile” received in 2021 and 2022. Results. Among requests for TMC the majority (43.1%) were for “non-explainable” fever in adolescents 9–17 years of age — with clear signs of a fictitious fever. Similar number of requests were for children with a low grade fever (37,0–37,5°C) that had been vainly investigated to find out the disease causing it. Of 4 children with Kawasaki syndrome only in one it had been suspected at the late stage. Requests for respiratory disease (37.1%) were mostly for their chronic forms. Pediatricians seem not to be conversant with chronic food aspiration syndromes’ diagnosis and management, including that in patient with neurologic conditions. Rare disease and/or unusual symptoms, as well as management of problem patients with known disease were less often the subject of TMC (12 и 7.8% respectively). Conclusion. We could state that pediatric hospitals have extensive diagnostic potential — except bacteriology that has to be upgrade. At the same time there is a tendency of pediatricians to conduct in problem cases multiple non-directional analyses and investigations, incorrectly interpret their results, as well as voluntarily formulate diagnoses. There is a need to do away with excessive and non-recommended use of antibiotics, IV infusion of “desintoxication” solutions, as well as polypharmacy. For the improvement of TMC it seems important to foresee the inclusion into TMS requests data on the disease progression as well as on the dynamics of relevant clinical and paraclinical parameters; the results of analyses and instrumental investigations should be put into addendum. There should be a feedback mechanism — a response to TMC with an appraisal of its effectivity. Keywords: telemedicine, telemedicine consultations in pediatrics.
{"title":"Telemedicine Consultations in Pediatrics — the Structure and Analysis","authors":"V. Tatochenko, M. Bakradze, G. S. Vershinin, A. Babayan","doi":"10.31550/1727-2378-2023-22-3-7-14","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-3-7-14","url":null,"abstract":"Aim: To analyze the content of requests for telemedicine consultations (TMC), received by the National Medical Research Center for Children's Health, and suggest possible steps to perfect it. Design: Retrospective study. Material and methods. We analyzed the content of 167 TMC requests for patients with “general pediatric profile” received in 2021 and 2022. Results. Among requests for TMC the majority (43.1%) were for “non-explainable” fever in adolescents 9–17 years of age — with clear signs of a fictitious fever. Similar number of requests were for children with a low grade fever (37,0–37,5°C) that had been vainly investigated to find out the disease causing it. Of 4 children with Kawasaki syndrome only in one it had been suspected at the late stage. Requests for respiratory disease (37.1%) were mostly for their chronic forms. Pediatricians seem not to be conversant with chronic food aspiration syndromes’ diagnosis and management, including that in patient with neurologic conditions. Rare disease and/or unusual symptoms, as well as management of problem patients with known disease were less often the subject of TMC (12 и 7.8% respectively). Conclusion. We could state that pediatric hospitals have extensive diagnostic potential — except bacteriology that has to be upgrade. At the same time there is a tendency of pediatricians to conduct in problem cases multiple non-directional analyses and investigations, incorrectly interpret their results, as well as voluntarily formulate diagnoses. There is a need to do away with excessive and non-recommended use of antibiotics, IV infusion of “desintoxication” solutions, as well as polypharmacy. For the improvement of TMC it seems important to foresee the inclusion into TMS requests data on the disease progression as well as on the dynamics of relevant clinical and paraclinical parameters; the results of analyses and instrumental investigations should be put into addendum. There should be a feedback mechanism — a response to TMC with an appraisal of its effectivity. Keywords: telemedicine, telemedicine consultations in pediatrics.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85940312","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-4-36-39
T. P. Demicheva, E. Smirnova
Aim: to establish the features of eating disorders in patients with type 2 diabetes mellitus. Material and methods. Examination of 536 women with complicated T2DM aged 50–80 years was carried out on the basis of the endocrinology department of the State Budgetary Healthcare Institution “PKKB”, Perm. The DEBQ questionnaire was used to identify eating disorders. Results. Emotional type of eating behavior was observed in 2.4% of DM2 patients, external — in 13%, restrictive — in 21%. All three eating disorders were present in 7.1% of patients, emotiogenic in combination with external — in 14.3%, restrictive in combination with emotiogenic — in 6.2%, restrictive in combination with external — in 14.6%. The emotiogenic type of eating behavior correlated with age (r = –0.598; p = 0.006), duration of diabetes (r = –0.536; p = 0.0148), body mass index (r = 0.363; p = 0.008), waist size (r = 0.384; p = 0.0361), total cholesterol (r = 0.741; p = 0.0079). A connection has been established between xternal type of eating behavior and body mass index (r = 0.567; p = 0.009), high-density lipoprotein cholesterol (r = –0.7; p = 0.0014), glycated hemoglobin level (r = 0.780; p = 0.022), triglycerides (r = 0.348; p = 0.0164). The dependence of the restrictive type of eating behavior on age (r = 0.879; p = 0.048), body mass index (r = 0.321; p = 0.021), glycemia level (r = –0.6; p = 0.01) and lipoprotein cholesterol was revealed. low density (r = –0.663; p = 0.013). Conclusion. Established eating disorders have shown an impact on metabolic control in women with type 2 diabetes. Their detection and prevention should be considered as a priority in the dispensary observation of this category of patients. Keywords: eating disorders, type 2 diabetes mellitus, women, metabolic control.
{"title":"Features of Eating Disorders in Patients with Type 2 Diabetes Mellitus","authors":"T. P. Demicheva, E. Smirnova","doi":"10.31550/1727-2378-2023-22-4-36-39","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-4-36-39","url":null,"abstract":"Aim: to establish the features of eating disorders in patients with type 2 diabetes mellitus. Material and methods. Examination of 536 women with complicated T2DM aged 50–80 years was carried out on the basis of the endocrinology department of the State Budgetary Healthcare Institution “PKKB”, Perm. The DEBQ questionnaire was used to identify eating disorders. Results. Emotional type of eating behavior was observed in 2.4% of DM2 patients, external — in 13%, restrictive — in 21%. All three eating disorders were present in 7.1% of patients, emotiogenic in combination with external — in 14.3%, restrictive in combination with emotiogenic — in 6.2%, restrictive in combination with external — in 14.6%. The emotiogenic type of eating behavior correlated with age (r = –0.598; p = 0.006), duration of diabetes (r = –0.536; p = 0.0148), body mass index (r = 0.363; p = 0.008), waist size (r = 0.384; p = 0.0361), total cholesterol (r = 0.741; p = 0.0079). A connection has been established between xternal type of eating behavior and body mass index (r = 0.567; p = 0.009), high-density lipoprotein cholesterol (r = –0.7; p = 0.0014), glycated hemoglobin level (r = 0.780; p = 0.022), triglycerides (r = 0.348; p = 0.0164). The dependence of the restrictive type of eating behavior on age (r = 0.879; p = 0.048), body mass index (r = 0.321; p = 0.021), glycemia level (r = –0.6; p = 0.01) and lipoprotein cholesterol was revealed. low density (r = –0.663; p = 0.013). Conclusion. Established eating disorders have shown an impact on metabolic control in women with type 2 diabetes. Their detection and prevention should be considered as a priority in the dispensary observation of this category of patients. Keywords: eating disorders, type 2 diabetes mellitus, women, metabolic control.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87726735","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-1-7-10
M. A. Kurtser, R. Shalina, D. Spiridonov, I.I. Kurtsikidze, A.G. Smirnova, A.A. Belkina
Aim: To study the possibilities of using telemedicine consultations in the work of an obstetrician-gynecologist. Design: Retrospective case series. Materials and methods. An analysis of 319 doctor — patient telemedicine consultations conducted by obstetricians-gynecologists of the MD Medical Group “Mother and Child” was carried out. Each consultation was characterized by 7 parameters: the format of communication, the relevance of the topic of the question to the profile of “obstetrics and gynecology”, the motivation to consult with a doctor remotely, the patient's complaints, the type of the follow-up medical care required and its urgency, the possibility to complete the consultation without a mandatory visit to a face-to-face appointment. Results. 313 (98.1%) consultations had the subject of obstetrics, gynecology or reproduction. Most often (210; 61.7%) patients wanted to receive a preliminary consultation to determine the need for face-to-face visit to the doctor. The most common issues for consultation (100; 31.9%) were topics related to the management of pregnancy. The vast majority of requests (296; 94.6%) did not require an emergency call for an ambulance or an urgent visit to a doctor. In 148 (47.3%) consultations, the consultant's qualification allowed answering all questions, but despite this, according to the Russian Federation legislation, it was recommended to consult a doctor face-to-face. Conclusion. With a systematic approach to the introduction of telemedicine consultations, their effectiveness may not be lower compared to the effectiveness of similar traditional visits with comparable safety and significant savings in resources for both the patient and the healthcare system as a whole. Keywords: telemedicine, telemedicine consultations.
{"title":"Telemedicine Consultations in Obstetrics and Gynecology","authors":"M. A. Kurtser, R. Shalina, D. Spiridonov, I.I. Kurtsikidze, A.G. Smirnova, A.A. Belkina","doi":"10.31550/1727-2378-2023-22-1-7-10","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-1-7-10","url":null,"abstract":"Aim: To study the possibilities of using telemedicine consultations in the work of an obstetrician-gynecologist. Design: Retrospective case series. Materials and methods. An analysis of 319 doctor — patient telemedicine consultations conducted by obstetricians-gynecologists of the MD Medical Group “Mother and Child” was carried out. Each consultation was characterized by 7 parameters: the format of communication, the relevance of the topic of the question to the profile of “obstetrics and gynecology”, the motivation to consult with a doctor remotely, the patient's complaints, the type of the follow-up medical care required and its urgency, the possibility to complete the consultation without a mandatory visit to a face-to-face appointment. Results. 313 (98.1%) consultations had the subject of obstetrics, gynecology or reproduction. Most often (210; 61.7%) patients wanted to receive a preliminary consultation to determine the need for face-to-face visit to the doctor. The most common issues for consultation (100; 31.9%) were topics related to the management of pregnancy. The vast majority of requests (296; 94.6%) did not require an emergency call for an ambulance or an urgent visit to a doctor. In 148 (47.3%) consultations, the consultant's qualification allowed answering all questions, but despite this, according to the Russian Federation legislation, it was recommended to consult a doctor face-to-face. Conclusion. With a systematic approach to the introduction of telemedicine consultations, their effectiveness may not be lower compared to the effectiveness of similar traditional visits with comparable safety and significant savings in resources for both the patient and the healthcare system as a whole. Keywords: telemedicine, telemedicine consultations.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81953516","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-1-47-55
I. I. Kutsenko, I. O. Borovikov, M. V. Galustyan, A. S. Magay, O. I. Borovikova
Aim: To assess the capabilities of microwave radiothermometry (MRTM) in early diagnosis of Postpartum endometritis and uterine suture failure after caesarean section. Design: Prospective non-randomized clinical trial. Materials and methods. A comparative analysis of the sensitivity of ultrasound (ultrasound) with dopplerometry and MRTM in the diagnosis of endometritis and suture failure on the uterus after cesarean section was carried out. The study included puerperal women after abdominal delivery (n = 90): 24 patients with a puerperia complication in the form of endometritis (group I), 16 — with suture failure on the uterus (group II), 50 — with a physiologically occurring postoperative period (control group). Assessment of the condition of the uterus and the postoperative suture on it was carried out on the 3–4th day after the operation. Results. Despite the fact that ultrasound with dopplerometry assessment of blood flow in the branches of the uterine arteries makes it possible to assess the structure of the myometrium and with a fairly high degree of probability to identify its inflammatory changes and defects in the suture, the sensitivity of this method in the early (3–4th day of the postoperative period) diagnosis of endometritis after abdominal delivery reaches an average of 54.2 ± 23.5%, and in the insolvency of the suture on the uterus — 31.25 ± 14.65%. At the same time, the MRTM study revealed indirect signs of endometritis in 66.7 ± 7.9% (if the conclusion is based on only one parameter — the thermoassymetry index, ITA) and 87.5 ± 8.3% (taking into account the combination of three signs), and for the insolvency of the suture on the uterus, the sensitivity of the method is 81.25 ± 4.75% for both ITA and three thermogram parameters, which is 2.6 times higher, than with ultrasound. Conclusion. Despite the rather high diagnostic effectiveness of the ultrasound method for assessing the condition of the scar on the uterus after cesarean section, the MRTM method has advantages in the form of higher sensitivity, ease of implementation, no need for expensive equipment and specialized medical qualifications. The greatest effectiveness of the diagnosis of postpartum purulent-septic complications can be achieved only with an integrated approach with clinical and laboratory tests and functional diagnostics, and timely prevention and an integrated approach to the treatment of purulent-inflammatory diseases of postoperative puerperia contribute to a significant reduction in the frequency of severe forms of postpartum infection. Keywords: caesarean section, endometritis, uterine suture failure, ultrasound, microwave radiothermometry, hysteroscopy.
{"title":"Prospects of Using Microwave Radiothermometry in Early Diagnosis of Endometritis and Uterine Suture Failure After Abdominal Birth","authors":"I. I. Kutsenko, I. O. Borovikov, M. V. Galustyan, A. S. Magay, O. I. Borovikova","doi":"10.31550/1727-2378-2023-22-1-47-55","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-1-47-55","url":null,"abstract":"Aim: To assess the capabilities of microwave radiothermometry (MRTM) in early diagnosis of Postpartum endometritis and uterine suture failure after caesarean section. Design: Prospective non-randomized clinical trial. Materials and methods. A comparative analysis of the sensitivity of ultrasound (ultrasound) with dopplerometry and MRTM in the diagnosis of endometritis and suture failure on the uterus after cesarean section was carried out. The study included puerperal women after abdominal delivery (n = 90): 24 patients with a puerperia complication in the form of endometritis (group I), 16 — with suture failure on the uterus (group II), 50 — with a physiologically occurring postoperative period (control group). Assessment of the condition of the uterus and the postoperative suture on it was carried out on the 3–4th day after the operation. Results. Despite the fact that ultrasound with dopplerometry assessment of blood flow in the branches of the uterine arteries makes it possible to assess the structure of the myometrium and with a fairly high degree of probability to identify its inflammatory changes and defects in the suture, the sensitivity of this method in the early (3–4th day of the postoperative period) diagnosis of endometritis after abdominal delivery reaches an average of 54.2 ± 23.5%, and in the insolvency of the suture on the uterus — 31.25 ± 14.65%. At the same time, the MRTM study revealed indirect signs of endometritis in 66.7 ± 7.9% (if the conclusion is based on only one parameter — the thermoassymetry index, ITA) and 87.5 ± 8.3% (taking into account the combination of three signs), and for the insolvency of the suture on the uterus, the sensitivity of the method is 81.25 ± 4.75% for both ITA and three thermogram parameters, which is 2.6 times higher, than with ultrasound. Conclusion. Despite the rather high diagnostic effectiveness of the ultrasound method for assessing the condition of the scar on the uterus after cesarean section, the MRTM method has advantages in the form of higher sensitivity, ease of implementation, no need for expensive equipment and specialized medical qualifications. The greatest effectiveness of the diagnosis of postpartum purulent-septic complications can be achieved only with an integrated approach with clinical and laboratory tests and functional diagnostics, and timely prevention and an integrated approach to the treatment of purulent-inflammatory diseases of postoperative puerperia contribute to a significant reduction in the frequency of severe forms of postpartum infection. Keywords: caesarean section, endometritis, uterine suture failure, ultrasound, microwave radiothermometry, hysteroscopy.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81506499","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-4-47-52
A. Misharova, L. V. Kondratieva, T. N. Korotkova
Aim: to study metabolic effects of empaglilozin in patients with type 2 diabetes and obesity. Design. Single center prospective randomized study. Materials and Methods. The study included 46 patients (10 men and 36 women) aged 37–69 years with previously diagnosed T2D and obesity. Patients were randomized into two groups by random numbers: in the main group (n = 22), empagliflozin 25 mg/day was added to metformin 2000 mg/day, the control group (n = 24) continued therapy with metformin 2000 mg/day. We looked such indicators, as anthropometric data were assessed: body weight (BW), waist circumference (WC), body mass index (BMI), glycemic control, and metabolic health markers (adiponectin, leptin) at baseline and after 6 months of therapy. Results. Although we didn’t find pronounced glycemic effect in the combined treatment group, but we showed positive dynamics of anthropometric parameters — a decrease in BW (p = 0.035), WC (p = 0.04), BMI (p = 0.005) — we found a decrease in leptin levels from 28.8 ± 11.0 to 21.0 ± 9.13 ng/ml (p = 0.035). In the main group, the level of adiponectin increased statistically significantly (p = 0.002) from 9.70 ± 2.15 to 13.0 ± 3.18 μg/ml. Conclusion. Significant non-glycemic effects of empagliflozin were obtained. Keywords: type 2 diabetes mellitus, obesity, empagliflozin.
{"title":"Metabolic Effects of Empagliflozin in Patients with Type 2 Diabetes Mellitus and Obesity","authors":"A. Misharova, L. V. Kondratieva, T. N. Korotkova","doi":"10.31550/1727-2378-2023-22-4-47-52","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-4-47-52","url":null,"abstract":"Aim: to study metabolic effects of empaglilozin in patients with type 2 diabetes and obesity. Design. Single center prospective randomized study. Materials and Methods. The study included 46 patients (10 men and 36 women) aged 37–69 years with previously diagnosed T2D and obesity. Patients were randomized into two groups by random numbers: in the main group (n = 22), empagliflozin 25 mg/day was added to metformin 2000 mg/day, the control group (n = 24) continued therapy with metformin 2000 mg/day. We looked such indicators, as anthropometric data were assessed: body weight (BW), waist circumference (WC), body mass index (BMI), glycemic control, and metabolic health markers (adiponectin, leptin) at baseline and after 6 months of therapy. Results. Although we didn’t find pronounced glycemic effect in the combined treatment group, but we showed positive dynamics of anthropometric parameters — a decrease in BW (p = 0.035), WC (p = 0.04), BMI (p = 0.005) — we found a decrease in leptin levels from 28.8 ± 11.0 to 21.0 ± 9.13 ng/ml (p = 0.035). In the main group, the level of adiponectin increased statistically significantly (p = 0.002) from 9.70 ± 2.15 to 13.0 ± 3.18 μg/ml. Conclusion. Significant non-glycemic effects of empagliflozin were obtained. Keywords: type 2 diabetes mellitus, obesity, empagliflozin.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90077841","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-3-22-31
D. Ovsyannikov, M. A. Zhestkova, V. Strelnikova, A. Averin, M.A. Atipaeva, O. Brunova, G. Buyanova, N. Weinstein, M.V. Volchikhin, I. V. Girutskaya, I. Davydova, D. Zhakota, I. Kovalenko, K.D. Korol, A. A. Kuznetsova, A. Krushelnitsky, A. Malakhov, L. Malyutina, E. A. Mamaeva, T.V. Marshalkina, A. Migali, A. Orlov, A.Yu. Pastarnak, S. I. Petrova, Е.Е. Petryaikina, Е.S. Petryaikina, G. Prokopiev, A. Pushkov, K. Savostyanov, Yu. A. Sigova, D. Skobeev, O. Sudakova, A. G. Talalaev, O. Topilin, M. Traube, A. Fisenko, A. Kholopova, A. Tsverava, N. B. Tsokova, S. Cherkasova
Aim: Genetic, clinical, laboratory-instrumental and morphological characteristics of genetic dysfunctions of the surfactant system in children, therapy and outcomes of the disease. Design: Multicentre, ambispective, open-label, descriptive pilot longitudinal study. Materials and methods. We observed 17 children from 16 families with identified mutations in the SFTPC, ABCA3, NKX2-1 genes. Methods used: genealogical, Sanger sequencing, clinical exome sequencing, computed tomography and histological examination of the lungs. Results. The study included 8 children with congenital deficiency of surfactant protein C, 8 children with brain-lung-thyroid syndrome and 1 patient with congenital deficiency of protein ABSA3. Based on the results of a genetic examination of patients, nucleotide variants c.218T>C were identified in 2 out of 8 patients with a mutation in the SFTPC gene, which is the most common according to the literature. In 5 children, the mutations were hereditary. Congenital deficiency of surfactant protein C, ABCA3 protein and brain-lung-thyroid syndrome were characterized by clinical, computed tomography, and morphological signs of interstitial lung disease. Despite complex respiratory, anti-inflammatory therapy, the frequency of deaths in congenital deficiency of surfactant protein C was 37.5%. Conclusion. Children with severe respiratory distress syndrome of newborns, interstitial lung disease with the development of severe chronic respiratory failure, burdened with a family history should undergo genetic testing to detect mutations in the genes SFTPB, SFTPC, ABCA3. The patient's combination of respiratory symptoms with congenital hypothyroidism and neurological pathology is the basis for genetic examination for NKX2-1 gene mutations to exclude the brain-lung-thyroid syndrome. Keywords: genetic dysfunctions of the surfactant system, congenital deficiency of surfactant protein C, congenital deficiency of ABCA3 protein, brain-lung-thyroid syndrome, NKX2-1 gene, children.
{"title":"Genetic Dysfunctions of the Surfactant System in Children: Results of a Multicenter Study","authors":"D. Ovsyannikov, M. A. Zhestkova, V. Strelnikova, A. Averin, M.A. Atipaeva, O. Brunova, G. Buyanova, N. Weinstein, M.V. Volchikhin, I. V. Girutskaya, I. Davydova, D. Zhakota, I. Kovalenko, K.D. Korol, A. A. Kuznetsova, A. Krushelnitsky, A. Malakhov, L. Malyutina, E. A. Mamaeva, T.V. Marshalkina, A. Migali, A. Orlov, A.Yu. Pastarnak, S. I. Petrova, Е.Е. Petryaikina, Е.S. Petryaikina, G. Prokopiev, A. Pushkov, K. Savostyanov, Yu. A. Sigova, D. Skobeev, O. Sudakova, A. G. Talalaev, O. Topilin, M. Traube, A. Fisenko, A. Kholopova, A. Tsverava, N. B. Tsokova, S. Cherkasova","doi":"10.31550/1727-2378-2023-22-3-22-31","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-3-22-31","url":null,"abstract":"Aim: Genetic, clinical, laboratory-instrumental and morphological characteristics of genetic dysfunctions of the surfactant system in children, therapy and outcomes of the disease. Design: Multicentre, ambispective, open-label, descriptive pilot longitudinal study. Materials and methods. We observed 17 children from 16 families with identified mutations in the SFTPC, ABCA3, NKX2-1 genes. Methods used: genealogical, Sanger sequencing, clinical exome sequencing, computed tomography and histological examination of the lungs. Results. The study included 8 children with congenital deficiency of surfactant protein C, 8 children with brain-lung-thyroid syndrome and 1 patient with congenital deficiency of protein ABSA3. Based on the results of a genetic examination of patients, nucleotide variants c.218T>C were identified in 2 out of 8 patients with a mutation in the SFTPC gene, which is the most common according to the literature. In 5 children, the mutations were hereditary. Congenital deficiency of surfactant protein C, ABCA3 protein and brain-lung-thyroid syndrome were characterized by clinical, computed tomography, and morphological signs of interstitial lung disease. Despite complex respiratory, anti-inflammatory therapy, the frequency of deaths in congenital deficiency of surfactant protein C was 37.5%. Conclusion. Children with severe respiratory distress syndrome of newborns, interstitial lung disease with the development of severe chronic respiratory failure, burdened with a family history should undergo genetic testing to detect mutations in the genes SFTPB, SFTPC, ABCA3. The patient's combination of respiratory symptoms with congenital hypothyroidism and neurological pathology is the basis for genetic examination for NKX2-1 gene mutations to exclude the brain-lung-thyroid syndrome. Keywords: genetic dysfunctions of the surfactant system, congenital deficiency of surfactant protein C, congenital deficiency of ABCA3 protein, brain-lung-thyroid syndrome, NKX2-1 gene, children.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75849881","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-3-70-75
Y. Kostyuchenko, T. Potupchik, L. Evert, E. Panicheva, Y. Dubrovsky, E. Usoltseva, N. Loseva
Aim: to study the features of social and metabolic indicators in adolescents with arterial hypertension (AH), to assess their informative significance and the magnitude of their contribution to the risk of developing this pathology. Design: a comparative clinical study of patients. Materials and Methods: The object of the study was adolescents aged 12–17 years (boys and girls) with and without AH. The 1st stage included the analysis of biomedical, social and metabolic indicators, the 2nd stage included an assessment of the informative significance and degree of participation of indicators as risk factors for AH. Methods: questioning, laboratory, clinical and functional, statistical. Examination program: verification of AH and its severity; association of AH with functional somatic disorders; features of biomedical, social and metabolic indicators; assessment of the significance and contribution of indicators as risk factors for AH. Results. Of the 504 examined, AH was diagnosed in 86 (17.06%) adolescents, of which 47.7% (41 people) had grade 1 AH and 52.3% (45 people) had grade 2 AH. Social risk factors for hypertension associated with family characteristics: the degree of marriage of parents — temporary cohabitation (OR = 3.36), father's profession — worker (OR = 3.14), father's education — secondary special (OR = 2.25), deviant family (OR = 2.78), family at medical and social risk (OR = 1.87). Metabolic predictors of the risk of AH: the presence of DLP (OR = 1.95), HChS (OR = 2.62), HTG (OR = 2.21), Hyper-β-CHS (OR = 1.87) and Hyper-pre-β-ChS (OR = 2.14). Conclusion. Along with traditional ones, it is necessary to identify and correct socially determined and metabolic risk factors for AH in order to optimize the diagnosis and prevention of this pathology in adolescents. Keywords: adolescents, arterial hypertension, risk factors, social factors, lipid spectrum
{"title":"Social and Metabolic Risk Factors for Arterial Hypertension in Adolescents","authors":"Y. Kostyuchenko, T. Potupchik, L. Evert, E. Panicheva, Y. Dubrovsky, E. Usoltseva, N. Loseva","doi":"10.31550/1727-2378-2023-22-3-70-75","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-3-70-75","url":null,"abstract":"Aim: to study the features of social and metabolic indicators in adolescents with arterial hypertension (AH), to assess their informative significance and the magnitude of their contribution to the risk of developing this pathology. Design: a comparative clinical study of patients. Materials and Methods: The object of the study was adolescents aged 12–17 years (boys and girls) with and without AH. The 1st stage included the analysis of biomedical, social and metabolic indicators, the 2nd stage included an assessment of the informative significance and degree of participation of indicators as risk factors for AH. Methods: questioning, laboratory, clinical and functional, statistical. Examination program: verification of AH and its severity; association of AH with functional somatic disorders; features of biomedical, social and metabolic indicators; assessment of the significance and contribution of indicators as risk factors for AH. Results. Of the 504 examined, AH was diagnosed in 86 (17.06%) adolescents, of which 47.7% (41 people) had grade 1 AH and 52.3% (45 people) had grade 2 AH. Social risk factors for hypertension associated with family characteristics: the degree of marriage of parents — temporary cohabitation (OR = 3.36), father's profession — worker (OR = 3.14), father's education — secondary special (OR = 2.25), deviant family (OR = 2.78), family at medical and social risk (OR = 1.87). Metabolic predictors of the risk of AH: the presence of DLP (OR = 1.95), HChS (OR = 2.62), HTG (OR = 2.21), Hyper-β-CHS (OR = 1.87) and Hyper-pre-β-ChS (OR = 2.14). Conclusion. Along with traditional ones, it is necessary to identify and correct socially determined and metabolic risk factors for AH in order to optimize the diagnosis and prevention of this pathology in adolescents. Keywords: adolescents, arterial hypertension, risk factors, social factors, lipid spectrum","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73933103","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-4-24-28
A. Ovsyannikova, R. Galenok, O. Rymar
Aim: To study peculiarities of various types of diabetes mellitus (DM) in young patients. Key points. In patients with DM onset in young age, it is challenging to correctly identify the DM type, therefore, it is essential to know the peculiarities of the onset and progression of each type. DM1 patients present with severe pancreatic β-cell dysfunction. Slow immunemediated DM is diagnosed in the presence of glutamic acid decarboxylase antibodies, but without any need to use insulin for 1 year after the diagnosis. DM2 is characterised with normal or elevated C-peptide levels, absence of antibodies, and presence of some signs of metabolic syndrome. In young patients, DM with autosomal dominant inheritance can be verified, which is caused by pathogenic mutations in associated genes — MODY (Maturity Onset Diabetes of the Young). Conclusion. A review of literature demonstrates the need in thorough differential diagnosis of a DM type if young patients present with hyperglycaemia. Keywords: slow immune-mediated diabetes mellitus, MODY, diabetes mellitus, young patients.
{"title":"Key Principles of Differential Diagnosis of Diabetes Mellitus Types in Young Patients","authors":"A. Ovsyannikova, R. Galenok, O. Rymar","doi":"10.31550/1727-2378-2023-22-4-24-28","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-4-24-28","url":null,"abstract":"Aim: To study peculiarities of various types of diabetes mellitus (DM) in young patients. Key points. In patients with DM onset in young age, it is challenging to correctly identify the DM type, therefore, it is essential to know the peculiarities of the onset and progression of each type. DM1 patients present with severe pancreatic β-cell dysfunction. Slow immunemediated DM is diagnosed in the presence of glutamic acid decarboxylase antibodies, but without any need to use insulin for 1 year after the diagnosis. DM2 is characterised with normal or elevated C-peptide levels, absence of antibodies, and presence of some signs of metabolic syndrome. In young patients, DM with autosomal dominant inheritance can be verified, which is caused by pathogenic mutations in associated genes — MODY (Maturity Onset Diabetes of the Young). Conclusion. A review of literature demonstrates the need in thorough differential diagnosis of a DM type if young patients present with hyperglycaemia. Keywords: slow immune-mediated diabetes mellitus, MODY, diabetes mellitus, young patients.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86880351","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-2-45-50
V. Tsukanov, M. Smolnikova, A. Vasyutin, E. G. Gorchilova, E. Kasparov, M.Yu. Olkhovskaya, N.O. Prokopyeva, Yu. L. Tonkikh
Aim: To research the relationship between laboratory and instrumental manifestations of pathology and polymorphisms of inflammatory cytokine genes in patients with Opisthorchis felineus invasion. Design. During 2022, we conducted a comparative study of patients who were hospitalized for etiotropic therapy of O. felineus invasion. Materials and methods. 139 patients with O. felineus invasion were examined. All patients underwent clinical and biochemical blood tests, ultrasound of the abdominal organs and liver elastometry with an assessment of liver fibrosis according to the METAVIR scale. Genotyping of single nucleotide polymorphisms of the IL28b, IL6, TNFA, and IFNG genes was performed using real-time PCR. Results. In patients with opisthorchiasis, liver fibrosis was associated with the presence of the minor allele A of the rs1800630 TNFA polymorphism and the TC genotype of rs2069705 IFNG. Polyps in the gallbladder were associated with the CC genotype of rs1800630 TNFA, while an increase in alkaline phosphatase and an increase in the proportion of eosinophils in the blood were associated with the CC genotype of rs2069705 IFNG. We did not find differences in the studied parameters depending on the genetic polymorphisms rs12979860 IL28b and rs1800795 IL6 in patients with O. felineus invasion. Conclusion. The obtained regularities should be used to increase the efficiency of dispensary observation in order to prevent the development of complications of parasitic invasion. Keywords: Opisthorchis felineus, single nucleotide polymorphism, cytokines, liver fibrosis.
{"title":"Genetic Polymorphism of Inflammatory Cytokines in Patients with Opisthorchis felineus Invasion","authors":"V. Tsukanov, M. Smolnikova, A. Vasyutin, E. G. Gorchilova, E. Kasparov, M.Yu. Olkhovskaya, N.O. Prokopyeva, Yu. L. Tonkikh","doi":"10.31550/1727-2378-2023-22-2-45-50","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-2-45-50","url":null,"abstract":"Aim: To research the relationship between laboratory and instrumental manifestations of pathology and polymorphisms of inflammatory cytokine genes in patients with Opisthorchis felineus invasion. Design. During 2022, we conducted a comparative study of patients who were hospitalized for etiotropic therapy of O. felineus invasion. Materials and methods. 139 patients with O. felineus invasion were examined. All patients underwent clinical and biochemical blood tests, ultrasound of the abdominal organs and liver elastometry with an assessment of liver fibrosis according to the METAVIR scale. Genotyping of single nucleotide polymorphisms of the IL28b, IL6, TNFA, and IFNG genes was performed using real-time PCR. Results. In patients with opisthorchiasis, liver fibrosis was associated with the presence of the minor allele A of the rs1800630 TNFA polymorphism and the TC genotype of rs2069705 IFNG. Polyps in the gallbladder were associated with the CC genotype of rs1800630 TNFA, while an increase in alkaline phosphatase and an increase in the proportion of eosinophils in the blood were associated with the CC genotype of rs2069705 IFNG. We did not find differences in the studied parameters depending on the genetic polymorphisms rs12979860 IL28b and rs1800795 IL6 in patients with O. felineus invasion. Conclusion. The obtained regularities should be used to increase the efficiency of dispensary observation in order to prevent the development of complications of parasitic invasion. Keywords: Opisthorchis felineus, single nucleotide polymorphism, cytokines, liver fibrosis.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91536676","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}
Pub Date : 2023-01-01DOI: 10.31550/1727-2378-2023-22-4-7-17
V. Veretyuk, O. Tsygankova, A. Ametov
Aim: To review the current scales for the evaluation of a cardiovascular risk in young men (under 45 years of age). The common cardiovascular risk evaluation scales are used mostly for subjects of over 40 years of age, thus complicating the prognosis of cardiovascular disorders in young people and, therefore, can result in low efficiency of preventive measures in this age group. The article describes cardiovascular risk calculators that can be used for young people, and their properties, advantages and possible use in clinical practice. Conclusion. The most useful for practical settings are QRISK3 and Mayo Clinic Heart Disease Calculator. Their use is limited since these calculators are in English. Validation of these scales in Russian young people is essential. Keywords: cardiovascular risk, risk evaluation, young men, cardiovascular disorder prevention.
{"title":"Evaluation of a Cardiovascular Risk in Young Men","authors":"V. Veretyuk, O. Tsygankova, A. Ametov","doi":"10.31550/1727-2378-2023-22-4-7-17","DOIUrl":"https://doi.org/10.31550/1727-2378-2023-22-4-7-17","url":null,"abstract":"Aim: To review the current scales for the evaluation of a cardiovascular risk in young men (under 45 years of age). The common cardiovascular risk evaluation scales are used mostly for subjects of over 40 years of age, thus complicating the prognosis of cardiovascular disorders in young people and, therefore, can result in low efficiency of preventive measures in this age group. The article describes cardiovascular risk calculators that can be used for young people, and their properties, advantages and possible use in clinical practice. Conclusion. The most useful for practical settings are QRISK3 and Mayo Clinic Heart Disease Calculator. Their use is limited since these calculators are in English. Validation of these scales in Russian young people is essential. Keywords: cardiovascular risk, risk evaluation, young men, cardiovascular disorder prevention.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81457005","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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