M. Antsiferov, N. A. Demidov, M. A. Balberova, T. Safronova, O. A. Mishra, S. G. Magomedova
{"title":"Real World Effectiveness of fixed combination of glargine 100 U/ml and lixisenatide therapy in outpatients with Type 2 Diabetes: A Retrospective Cohort Study SOLO","authors":"M. Antsiferov, N. A. Demidov, M. A. Balberova, T. Safronova, O. A. Mishra, S. G. Magomedova","doi":"10.14341/dm12809","DOIUrl":"https://doi.org/10.14341/dm12809","url":null,"abstract":"","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72751517","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":"Dysfunction of the meibomian glands in patients with diabetes mellitus","authors":"T. Safonova, E. S. Medvedeva","doi":"10.14341/dm12798","DOIUrl":"https://doi.org/10.14341/dm12798","url":null,"abstract":"","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90243838","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}
A. Falkovskaya, V. Mordovin, A. Sukhareva, I. Zyubanova, M. Manukyan, V. Lichikaki, E. Tsoi, A. Gusakova, N. V. Dorozhkina
{"title":"Cerebrovascular disorders in patients with type 2 diabetes mellitus and resistant hypertension","authors":"A. Falkovskaya, V. Mordovin, A. Sukhareva, I. Zyubanova, M. Manukyan, V. Lichikaki, E. Tsoi, A. Gusakova, N. V. Dorozhkina","doi":"10.14341/dm12779","DOIUrl":"https://doi.org/10.14341/dm12779","url":null,"abstract":"","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74517255","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}
E. Sechko, T. Kuraeva, L. I. Zilberman, D. Laptev, O. Bezlepkina, V. Peterkova
{"title":"Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients","authors":"E. Sechko, T. Kuraeva, L. I. Zilberman, D. Laptev, O. Bezlepkina, V. Peterkova","doi":"10.14341/dm12819","DOIUrl":"https://doi.org/10.14341/dm12819","url":null,"abstract":"","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82763379","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}
Gestational diabetes mellitus (GDM) is characterized as hyperglycemia, first detected during pregnancy, yet not meeting the criteria for “manifest” diabetes mellitus. GDM is one of the most common gestational complications. This pathology is associated with many adverse pregnancy outcomes, both on the part of the mother and the fetus. The problem of identifying GDM has acquired particular relevance and significance for the healthcare system at the moment due to the steady increase in the prevalence of such risk factors of GDM as obesity and late pregnancy. The history of screening and diagnosis of GDM has undergone a number of significant changes in a short time. Currently, different clinical guidelines offer different approaches to GDM screening, thus, a unified approach to identifying this pathology has not yet been formulated and adopted. The purpose of this review was to discover the current clinical guidelines for the detection of GDM at 24–28 weeks of pregnancy, including historical context of their origin and development, to describe these approaches, as well as to critically evaluate them with a discussion of the main advantages and disadvantages of each of them.
{"title":"Gestational diabetes mellitus: current screening problems","authors":"N. Volkova, S. Panenko","doi":"10.14341/dm12727","DOIUrl":"https://doi.org/10.14341/dm12727","url":null,"abstract":"Gestational diabetes mellitus (GDM) is characterized as hyperglycemia, first detected during pregnancy, yet not meeting the criteria for “manifest” diabetes mellitus. GDM is one of the most common gestational complications. This pathology is associated with many adverse pregnancy outcomes, both on the part of the mother and the fetus. The problem of identifying GDM has acquired particular relevance and significance for the healthcare system at the moment due to the steady increase in the prevalence of such risk factors of GDM as obesity and late pregnancy. The history of screening and diagnosis of GDM has undergone a number of significant changes in a short time. Currently, different clinical guidelines offer different approaches to GDM screening, thus, a unified approach to identifying this pathology has not yet been formulated and adopted. The purpose of this review was to discover the current clinical guidelines for the detection of GDM at 24–28 weeks of pregnancy, including historical context of their origin and development, to describe these approaches, as well as to critically evaluate them with a discussion of the main advantages and disadvantages of each of them.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77266857","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}
RATIONALE. Over the past 20 years the prevalence of type 2 diabetes in Russia has more than doubled and reached 4.43 million people in 2020, while the growth rate keeps increasing. Most patients with T2DM are at a higher risk of developing major adverse cardiovascular events (MACE) associated with significant mortality. There is a strong evidence base that the drugs belonging to GLP-1RA class contribute to reducing the risk of cardiovascular events and renal outcomes. At the same time, the current prescribing rates of these treatments in Russia are quite low - only about 0.1% of patients are prescribed GLP-1RAs, according to Diabetes Registry data.AIM. Review the results of several randomized clinical trials (RCTs) concerning effects of GLP-1RA treatments on prevention of primary and secondary cardiovascular events and estimate the number of diabetic target population.MATERIALS AND METHODS. We examined the data from clinical trials on GLP-1RA treatments registered in Russia and used in routine clinical practice (ELIXA, EXSCEL, LEADER, SUSTAIN-6 and REWIND) and data from two meta-analyzes published as of December 1, 2020. The task was to evaluate the inclusion criteria, patient profile, and the clinical efficacy and safety profiles of the studied therapies. Also, the analysis of clinical information from the Diabetes Registry (DR) was performed to estimate the number of target T2DM patients meeting RCTs inclusion criteria that could benefit from prescribing of GLP-1RAs.RESULTS. The reviewed clinical trials demonstrated a statistically significant reduction (p <0.05) in the risk of serious cardiovascular events in patients treated with Liraglutide [RR 0.87 (95% CI, 0.78-0.97)], Semagltuide [OP 0.74 (95% CI 0.58-0.95)] and Dulaglutide [RR 0.88 (95% CI 0.79-0.99)]. Meta-analyzes utilizing data from 6 RCTs with the total number of 56,004 T2DM patients, also, confirmed a statistically significant reduction in the risk of developing MACE (by 12%) in the studied population, and a 17% reduction in the risk of combined renal outcomes [RR 0.83 (95% CI 0.78-0.89), p <0.0001]. The DR patient population that met the RCTs inclusion criteria amounted to 538.6 thous. subjects in case of REWIND and 432.4 thous. in case of LEADER and SUSTAIN-6. The key differences between FDR patients and patients engaged in RCTs included gender and age characteristics. The DR patients were generally older and the bulk of them were women, which has to do with overall Russian demographic trends. The proportion of DR patients with established CVD was 26%, which closely matched the profile of patients from REWIND study (31.5%). According to DR data, the number of patients in whom the treatment was intensified following prescription of basal insulin was 7612 per year, which is close to a potential cohort eligible for alternative treatment with GLP-1RAs.CONCLUSION. All the drugs belonging to GLP-1RA class are clinically effective in reducing the risk of cardiovascular and renal outcome
基本原理。在过去的20年里,俄罗斯的2型糖尿病患病率增加了一倍多,到2020年达到443万人,并且增长速度还在继续。大多数T2DM患者发生与显著死亡率相关的主要不良心血管事件(MACE)的风险较高。有强有力的证据表明,属于GLP-1RA类的药物有助于降低心血管事件和肾脏结局的风险。与此同时,根据Diabetes Registry data.AIM的数据,目前俄罗斯这些治疗的处方率相当低,只有约0.1%的患者服用GLP-1RAs。回顾几项关于GLP-1RA治疗对预防原发性和继发性心血管事件影响的随机临床试验(rct)的结果,并估计糖尿病目标人群的数量。材料和方法。我们检查了在俄罗斯注册并用于常规临床实践的GLP-1RA治疗的临床试验数据(ELIXA, EXSCEL, LEADER, SUSTAIN-6和REWIND)以及截至2020年12月1日发表的两项荟萃分析的数据。任务是评估纳入标准、患者概况以及所研究疗法的临床疗效和安全性概况。此外,对糖尿病登记处(DR)的临床信息进行分析,以估计符合随机对照试验纳入标准的目标T2DM患者的数量,这些患者可以从处方glp - 1ras中获益。回顾的临床试验显示,利拉鲁肽、semaglutide和Dulaglutide治疗的患者发生严重心血管事件的风险有统计学意义的降低(p <0.05) [RR 0.87 (95% CI, 0.78-0.97)]、semaglutide [OP 0.74 (95% CI 0.58-0.95)]和Dulaglutide [RR 0.88 (95% CI 0.79-0.99)]。荟萃分析利用6项随机对照试验的数据,共56,004例T2DM患者,也证实了研究人群中发生MACE的风险降低了12%,合并肾脏结局的风险降低了17% [RR 0.83 (95% CI 0.78-0.89), p <0.0001]。符合rct纳入标准的DR患者人群为538.6万人。在倒带和432.4万的情况下受试者。如果是LEADER和SUSTAIN-6。FDR患者与参与随机对照试验的患者之间的主要差异包括性别和年龄特征。DR患者一般年龄较大,其中大部分是女性,这与俄罗斯的总体人口趋势有关。DR患者合并CVD的比例为26%,这与REWIND研究的患者比例(31.5%)非常吻合。DR数据显示,在基础胰岛素处方后强化治疗的患者数量为7612人/年,接近符合glp - 1ras替代治疗条件的潜在队列。所有属于GLP-1RA类的药物在降低心血管和肾脏结局的风险方面具有临床有效性,同时显示出良好的安全性,包括降低低血糖的风险。存在心血管风险的患者和已确诊心血管疾病的患者均记录了并发症风险的降低。目前在俄罗斯所有可用的GLP-1RA治疗中,利拉鲁肽、西马鲁肽和杜拉鲁肽的临床疗效最大。DR中符合rct纳入标准和匹配rct患者概况的估计患者人数超过50万人,其中符合REWIND标准的患者人数最多。可能从GLP-1RAs治疗中获益的T2DM患者的目标人群超过50万人。在这一数字中,至少有7500人是患者,他们的治疗在基础胰岛素处方后得到加强(目的是改善血糖控制,但不考虑心血管风险)。目前,如果我们以俄罗斯的真实临床环境为例,接受GLP-1RA治疗的患者数量大大低于估计数字(不到1%),这需要重新考虑处方方法,因为最先进的临床指南建议优先预防心血管风险。
{"title":"Effects of GLP-1RAs on cardiovascular outcomes in patients with type 2 diabetes mellitus: review of real-world data on target populations from diabetes registry in Russian Federation","authors":"O. Vikulova, G. Galstyan, M. Shestakova","doi":"10.14341/dm12803","DOIUrl":"https://doi.org/10.14341/dm12803","url":null,"abstract":"RATIONALE. Over the past 20 years the prevalence of type 2 diabetes in Russia has more than doubled and reached 4.43 million people in 2020, while the growth rate keeps increasing. Most patients with T2DM are at a higher risk of developing major adverse cardiovascular events (MACE) associated with significant mortality. There is a strong evidence base that the drugs belonging to GLP-1RA class contribute to reducing the risk of cardiovascular events and renal outcomes. At the same time, the current prescribing rates of these treatments in Russia are quite low - only about 0.1% of patients are prescribed GLP-1RAs, according to Diabetes Registry data.AIM. Review the results of several randomized clinical trials (RCTs) concerning effects of GLP-1RA treatments on prevention of primary and secondary cardiovascular events and estimate the number of diabetic target population.MATERIALS AND METHODS. We examined the data from clinical trials on GLP-1RA treatments registered in Russia and used in routine clinical practice (ELIXA, EXSCEL, LEADER, SUSTAIN-6 and REWIND) and data from two meta-analyzes published as of December 1, 2020. The task was to evaluate the inclusion criteria, patient profile, and the clinical efficacy and safety profiles of the studied therapies. Also, the analysis of clinical information from the Diabetes Registry (DR) was performed to estimate the number of target T2DM patients meeting RCTs inclusion criteria that could benefit from prescribing of GLP-1RAs.RESULTS. The reviewed clinical trials demonstrated a statistically significant reduction (p <0.05) in the risk of serious cardiovascular events in patients treated with Liraglutide [RR 0.87 (95% CI, 0.78-0.97)], Semagltuide [OP 0.74 (95% CI 0.58-0.95)] and Dulaglutide [RR 0.88 (95% CI 0.79-0.99)]. Meta-analyzes utilizing data from 6 RCTs with the total number of 56,004 T2DM patients, also, confirmed a statistically significant reduction in the risk of developing MACE (by 12%) in the studied population, and a 17% reduction in the risk of combined renal outcomes [RR 0.83 (95% CI 0.78-0.89), p <0.0001]. The DR patient population that met the RCTs inclusion criteria amounted to 538.6 thous. subjects in case of REWIND and 432.4 thous. in case of LEADER and SUSTAIN-6. The key differences between FDR patients and patients engaged in RCTs included gender and age characteristics. The DR patients were generally older and the bulk of them were women, which has to do with overall Russian demographic trends. The proportion of DR patients with established CVD was 26%, which closely matched the profile of patients from REWIND study (31.5%). According to DR data, the number of patients in whom the treatment was intensified following prescription of basal insulin was 7612 per year, which is close to a potential cohort eligible for alternative treatment with GLP-1RAs.CONCLUSION. All the drugs belonging to GLP-1RA class are clinically effective in reducing the risk of cardiovascular and renal outcome","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76345231","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}
И. Дедов, Г. Мокрышева, В. Шестакова, В. Никонова, Ю. Майоров, Г. Р. Галстян, М. Ш. Шамхалова, В. О. Барышева, А С Аметов, М. Б. Анциферов, А. Ю. Бабенко, Татьяна Бардымова, Ф. В. Валеева, А. А. Вачугова, Гринева, Т. Ю. Демидова, Т. П. Киселева, М. А. Куницына, Т. Н. Маркова, М. Мкртумян, Н. А. Петунина, Л. А. Руяткина, В. Салухов, Л. А. Суплотова, Л. Хадарцева, Ю Ш Халимов, I. Dedov, N. Mokrysheva, M. Shestakova, T. Nikonova, A. Mayorov, Galstyan, M. Shamkhalova, V. Barysheva, A. Ametov, Mikhail B. Antsiferov, Babenko, T. Bardymova, F. Valeeva, A. A. Vachugova, E. Grineva, T. Demidova, Tatiana P. Kiseleva, M. Kunitsyna, T. Markova, A. Mkrtumyan, N. Petunina, Ruyatkina, V. V. Saluhov, L. A. Suplotova, Elena L. Hadartseva
A dangerous viral disease COVID-19, caused by a new RNA coronavirus SARS-COV-2, has been actively spreading in the world since December 2019. The main manifestations of this disease are bilateral pneumonia, often accompanied by the development of acute respiratory syndrome and respiratory failure. Patients with diabetes mellitus (DM) are at high risk of infection with the SARS-COV-2 virus, severe illness and death.Maintaining of target glycemic levels is the most important factor in a favorable outcome of COVID-19 in both type 1 and type 2 DM. The choice of antihyperglycemic therapy in a patient with DM in the acute period of COVID-19 depends on the initial therapy, the severity of hyperglycemia, the severity of the viral infection and the patient’s clinical condition.The article presents the recommendations of the board of experts of the Russian Association of Endocrinologists on glycemic control and the choice of antihyperglycemic therapy in patients with type 2 DM and COVID-19, and also on the use of glucocorticosteroids used in the treatment of COVID-19 in patients with type 2 DM.
{"title":"Glycemia control and choice of antihyperglycemic therapy in patients with type 2 diabetes mellitus and COVID-19: a consensus decision of the board of experts of the Russian association of endocrinologists","authors":"И. Дедов, Г. Мокрышева, В. Шестакова, В. Никонова, Ю. Майоров, Г. Р. Галстян, М. Ш. Шамхалова, В. О. Барышева, А С Аметов, М. Б. Анциферов, А. Ю. Бабенко, Татьяна Бардымова, Ф. В. Валеева, А. А. Вачугова, Гринева, Т. Ю. Демидова, Т. П. Киселева, М. А. Куницына, Т. Н. Маркова, М. Мкртумян, Н. А. Петунина, Л. А. Руяткина, В. Салухов, Л. А. Суплотова, Л. Хадарцева, Ю Ш Халимов, I. Dedov, N. Mokrysheva, M. Shestakova, T. Nikonova, A. Mayorov, Galstyan, M. Shamkhalova, V. Barysheva, A. Ametov, Mikhail B. Antsiferov, Babenko, T. Bardymova, F. Valeeva, A. A. Vachugova, E. Grineva, T. Demidova, Tatiana P. Kiseleva, M. Kunitsyna, T. Markova, A. Mkrtumyan, N. Petunina, Ruyatkina, V. V. Saluhov, L. A. Suplotova, Elena L. Hadartseva","doi":"10.14341/dm12873","DOIUrl":"https://doi.org/10.14341/dm12873","url":null,"abstract":"A dangerous viral disease COVID-19, caused by a new RNA coronavirus SARS-COV-2, has been actively spreading in the world since December 2019. The main manifestations of this disease are bilateral pneumonia, often accompanied by the development of acute respiratory syndrome and respiratory failure. Patients with diabetes mellitus (DM) are at high risk of infection with the SARS-COV-2 virus, severe illness and death.Maintaining of target glycemic levels is the most important factor in a favorable outcome of COVID-19 in both type 1 and type 2 DM. The choice of antihyperglycemic therapy in a patient with DM in the acute period of COVID-19 depends on the initial therapy, the severity of hyperglycemia, the severity of the viral infection and the patient’s clinical condition.The article presents the recommendations of the board of experts of the Russian Association of Endocrinologists on glycemic control and the choice of antihyperglycemic therapy in patients with type 2 DM and COVID-19, and also on the use of glucocorticosteroids used in the treatment of COVID-19 in patients with type 2 DM.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90055765","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}
Васильев Иван Тихонович, Л. Г. Черных, И. Н. Великанов, М. Полякова, В. Васильев, М. Петров, Вольфганг Шрёдер, Главатских, А. Н. Тюльпаков, Москва Морозовская ДГКБ ДЗМ, Y. Tikhonovich, Liudmila G. Chernich, Igor N. Velikanov, Valentina M. Polyakova, E. Vasilyev, Petrov, E. Shreder, Elena V. Glavatskich, A. Tyulpakov
Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. This disease in foreign literature is called NDH-syndrome (Neonatal diabetes and Hypothyroidism syndrome).We present the description of a patient with this syndrome with novel homozygous GLIS3 mutation.Our patient is a female, who was born with a weight of 1680 gr, length of 44 cm to consanguineous parents. She developed diabetes on 2 day after birth, requiring continuous intravenous insulin. On day 5 of life hypothyroidism was identified. Thyroid anatomy was normal on ultrasound scan. NDH syndrome was suspected.Genetic analysis revealed a novel homozygous mutation c.1836delT, p.Ser612ArgfsTer33 in exon 5 in GLIS3 gene.To date, the patient is followed up for 4 years in total. Currently, growth retardation, psychomotor and speech development persist. Carbohydrate metabolism and thyroid profile has been subcompensated against the background of replacement therapy. No other components of the syndrome have been identified.In this report, we have demonstrated the features of the neonatal diabetes mellitus in a patient with a defect in the GLIS3 gene. Early genetic verification of the diagnosis contributes to the timely starting of personalized therapy, can improve the quality of life of such patients, and, given the nature of inheritance, is necessary for medical genetic counseling of the family.
{"title":"Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)","authors":"Васильев Иван Тихонович, Л. Г. Черных, И. Н. Великанов, М. Полякова, В. Васильев, М. Петров, Вольфганг Шрёдер, Главатских, А. Н. Тюльпаков, Москва Морозовская ДГКБ ДЗМ, Y. Tikhonovich, Liudmila G. Chernich, Igor N. Velikanov, Valentina M. Polyakova, E. Vasilyev, Petrov, E. Shreder, Elena V. Glavatskich, A. Tyulpakov","doi":"10.14341/dm12826","DOIUrl":"https://doi.org/10.14341/dm12826","url":null,"abstract":"Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. This disease in foreign literature is called NDH-syndrome (Neonatal diabetes and Hypothyroidism syndrome).We present the description of a patient with this syndrome with novel homozygous GLIS3 mutation.Our patient is a female, who was born with a weight of 1680 gr, length of 44 cm to consanguineous parents. She developed diabetes on 2 day after birth, requiring continuous intravenous insulin. On day 5 of life hypothyroidism was identified. Thyroid anatomy was normal on ultrasound scan. NDH syndrome was suspected.Genetic analysis revealed a novel homozygous mutation c.1836delT, p.Ser612ArgfsTer33 in exon 5 in GLIS3 gene.To date, the patient is followed up for 4 years in total. Currently, growth retardation, psychomotor and speech development persist. Carbohydrate metabolism and thyroid profile has been subcompensated against the background of replacement therapy. No other components of the syndrome have been identified.In this report, we have demonstrated the features of the neonatal diabetes mellitus in a patient with a defect in the GLIS3 gene. Early genetic verification of the diagnosis contributes to the timely starting of personalized therapy, can improve the quality of life of such patients, and, given the nature of inheritance, is necessary for medical genetic counseling of the family.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85764217","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}
А. Белый, Р. Дудина, О. О. Знойко, Т. Н. Маркова, И. А. Морозова, Н. П. Блохина, Е. А. Нурмухаметова, Москва С. Логинова, Инфекционная клиническая больница, Petr A. Beliy, K. Dudina, O. Znoyko, Tatyana N. Markova, Irina A. Morozova, Natalia P. Blokhina, Nurmukhametova, N. D. Yushchuk
BACKGROUND: The poor outcomes of chronic hepatitis C (CHC) and type 2 diabetes determine the socio-economic significance of the combined pathology since they lead to premature death. The proportion of patients with type 2 diabetes with markers of viral hepatitis (VH) in the Russian Federation is not known, which does not allow us to estimate the burden for the state of this medical problem.OBJECTIVE: Assessment of the prevalence of concomitant pathology, HCV infection and type 2 diabetes, as well as the proportion of severe liver damage in its structure, according to the analysis of the primary medical records of four Moscow hospitals.MATERIALS AND METHODS: A retrospective analysis of the medical records of patients with HCV infection and diabetes mellitus, who admitted at different periods to four hospitals in Moscow, was carried out, as well as a total examination for the presence of anti-HCV in the blood of all patients with diabetes who were admitted within a certain period to the endocrinology department of a multidisciplinary hospital. Additionally, to determine the proportion of patients with liver cirrhosis (LC), an additional examination of patients with this combined pathology was carried out in accordance with the standards for the diagnosis of hepatitis C.RESULTS: In total, according to data from 4 hospitals in Moscow, over a certain period, 2% (105/5298) of diabetes patients with anti-HCV in their blood were identified. Sex ratio for men: women = 54 (51%): 51 (49%). Patients aged 50–69 years prevailed — 70% (74/105). Seroprevalence of HCV in cohorts of patients with type 2 diabetes according to the analysis in 3 health facilities: 0.9% (20/2196), 1.9% (8/432), 1.9% (28/1500). A significant drawback was revealed that did not allow assessing the true seroprevalence of HCV: not all patients were hospitalized with the results of a VH test, and not all of them were assigned an examination for VH markers if it was not performed before hospitalization. The proportion of type 2 diabetes patients with anti-HCV in the blood according to the results of total screening (3.7%; 16/432) became comparable to the proportion of type 2 diabetes patients among patients with CHC admitted to an infectious hospital (4.2%; 49 / 1170). The proportion of patients with LC according to the analysis of the medical records of the infectious hospital is 65% (32/49), in the group of endocrinological patients with additional examination it is 18% (13/71).CONCLUSION: For the first time in the Russian Federation, data were obtained on the prevalence of HCV infection in combination with type 2 diabetes. The results of the study indicate the need to develop effective screening programs to detect active HCV infection in the group of patients with diabetes, as well as patients among them with severe hepatic fibrosis for the timely conduct of highly effective antiviral therapy, which will prevent poor outcomes in a separate perspective.
{"title":"Prevalence of chronic HCV infection in patients with type 2 diabetes mellitus in Russia","authors":"А. Белый, Р. Дудина, О. О. Знойко, Т. Н. Маркова, И. А. Морозова, Н. П. Блохина, Е. А. Нурмухаметова, Москва С. Логинова, Инфекционная клиническая больница, Petr A. Beliy, K. Dudina, O. Znoyko, Tatyana N. Markova, Irina A. Morozova, Natalia P. Blokhina, Nurmukhametova, N. D. Yushchuk","doi":"10.14341/dm12847","DOIUrl":"https://doi.org/10.14341/dm12847","url":null,"abstract":"BACKGROUND: The poor outcomes of chronic hepatitis C (CHC) and type 2 diabetes determine the socio-economic significance of the combined pathology since they lead to premature death. The proportion of patients with type 2 diabetes with markers of viral hepatitis (VH) in the Russian Federation is not known, which does not allow us to estimate the burden for the state of this medical problem.OBJECTIVE: Assessment of the prevalence of concomitant pathology, HCV infection and type 2 diabetes, as well as the proportion of severe liver damage in its structure, according to the analysis of the primary medical records of four Moscow hospitals.MATERIALS AND METHODS: A retrospective analysis of the medical records of patients with HCV infection and diabetes mellitus, who admitted at different periods to four hospitals in Moscow, was carried out, as well as a total examination for the presence of anti-HCV in the blood of all patients with diabetes who were admitted within a certain period to the endocrinology department of a multidisciplinary hospital. Additionally, to determine the proportion of patients with liver cirrhosis (LC), an additional examination of patients with this combined pathology was carried out in accordance with the standards for the diagnosis of hepatitis C.RESULTS: In total, according to data from 4 hospitals in Moscow, over a certain period, 2% (105/5298) of diabetes patients with anti-HCV in their blood were identified. Sex ratio for men: women = 54 (51%): 51 (49%). Patients aged 50–69 years prevailed — 70% (74/105). Seroprevalence of HCV in cohorts of patients with type 2 diabetes according to the analysis in 3 health facilities: 0.9% (20/2196), 1.9% (8/432), 1.9% (28/1500). A significant drawback was revealed that did not allow assessing the true seroprevalence of HCV: not all patients were hospitalized with the results of a VH test, and not all of them were assigned an examination for VH markers if it was not performed before hospitalization. The proportion of type 2 diabetes patients with anti-HCV in the blood according to the results of total screening (3.7%; 16/432) became comparable to the proportion of type 2 diabetes patients among patients with CHC admitted to an infectious hospital (4.2%; 49 / 1170). The proportion of patients with LC according to the analysis of the medical records of the infectious hospital is 65% (32/49), in the group of endocrinological patients with additional examination it is 18% (13/71).CONCLUSION: For the first time in the Russian Federation, data were obtained on the prevalence of HCV infection in combination with type 2 diabetes. The results of the study indicate the need to develop effective screening programs to detect active HCV infection in the group of patients with diabetes, as well as patients among them with severe hepatic fibrosis for the timely conduct of highly effective antiviral therapy, which will prevent poor outcomes in a separate perspective.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79806221","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: In establishing the diagnosis — type 2 diabetes, there is a trend of multiple increases every year, which is a health issue. According to the state register, the statistics of patients with diabetes in Russia is about 17% of the total population of the country. The prevalence of diabetes is steadily increasing every year. Today, diabetes mellitus is the leader among the prevalence of non-communicable diseases after cancer, cardiovascular diseases, often leading to disability and death.Aim: To study the relationship between oxidative stress and the «proteinase-inhibitor» system in diabetes mellitus 2.Materials and methods: An observational single-center single-stage sample study was conducted with the participation of patients with type 2 diabetes mellitus and a control group (practically healthy individuals). the activity of elastase-, trypsin-like proteinases, α1-proteinase inhibitor, the content of bityrosine as an indicator of oxidative modification of proteins and the state of lipid peroxidation were determined by spectrophotometric method in all subjects in blood plasma: the concentrations of TBK-active products and antioxidants-the activity of superoxide dismutase, catalase.Results: It was shown that in type 2 diabetes mellitus, the content of TBA of active products (an indicator of lipid peroxidation) increases by 2.34 times and the concentration of bityrosine — an indicator of oxidative modification of proteins, which was negatively dependent on the activity of a proteinase inhibitor (-0.79, p=0.03) increases by 7 times. A decrease in the activity of the proteinase inhibitor (by 23%) was accompanied by an increase in the activity of elastase — and trypsin-like proteinases, respectively, by 1.2 and 2.3 times, compared with practically healthy individuals. The activity of antioxidant enzymes, superoxide dismutase and catalase increased by 8.2 and 6.4 times, respectively.Conclusion: An increase in oxidative stress and oxidative modification of proteins is accompanied by a decrease in the activity of the proteinase inhibitor and an increase in the activity of elastase-, trypsin-like proteinases, as well as antioxidant enzymes.
{"title":"Oxidative stress and proteolysis system in type 2 diabetes","authors":"D. A. Dyakov, O. Akbasheva","doi":"10.14341/dm12402","DOIUrl":"https://doi.org/10.14341/dm12402","url":null,"abstract":"Background: In establishing the diagnosis — type 2 diabetes, there is a trend of multiple increases every year, which is a health issue. According to the state register, the statistics of patients with diabetes in Russia is about 17% of the total population of the country. The prevalence of diabetes is steadily increasing every year. Today, diabetes mellitus is the leader among the prevalence of non-communicable diseases after cancer, cardiovascular diseases, often leading to disability and death.Aim: To study the relationship between oxidative stress and the «proteinase-inhibitor» system in diabetes mellitus 2.Materials and methods: An observational single-center single-stage sample study was conducted with the participation of patients with type 2 diabetes mellitus and a control group (practically healthy individuals). the activity of elastase-, trypsin-like proteinases, α1-proteinase inhibitor, the content of bityrosine as an indicator of oxidative modification of proteins and the state of lipid peroxidation were determined by spectrophotometric method in all subjects in blood plasma: the concentrations of TBK-active products and antioxidants-the activity of superoxide dismutase, catalase.Results: It was shown that in type 2 diabetes mellitus, the content of TBA of active products (an indicator of lipid peroxidation) increases by 2.34 times and the concentration of bityrosine — an indicator of oxidative modification of proteins, which was negatively dependent on the activity of a proteinase inhibitor (-0.79, p=0.03) increases by 7 times. A decrease in the activity of the proteinase inhibitor (by 23%) was accompanied by an increase in the activity of elastase — and trypsin-like proteinases, respectively, by 1.2 and 2.3 times, compared with practically healthy individuals. The activity of antioxidant enzymes, superoxide dismutase and catalase increased by 8.2 and 6.4 times, respectively.Conclusion: An increase in oxidative stress and oxidative modification of proteins is accompanied by a decrease in the activity of the proteinase inhibitor and an increase in the activity of elastase-, trypsin-like proteinases, as well as antioxidant enzymes.","PeriodicalId":73708,"journal":{"name":"Journal of diabetes mellitus","volume":"398 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76533664","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}