Niemann – Pick disease type A/B (NPAB) is a rare severe inherited disease from the group of accumulation diseases with a defect in the acid sphingomyelinase gene (Niemann-Pick disease types B, A/B) (ASMD). Symptoms of damage to the nervous system and internal organs manifest in infancy, leading to disability, fatalities in childhood. NPAB is so far incurable. Optimal management of the disease requires a multidisciplinary team of physicians, specialists. The basis of therapy is the elimination of existing/forming complications, symptomatic treatment. Enzyme replacement therapy as a means of modifying the course of this disease is expected to slow down the progression of pathologic manifestations of the disease not related to the central nervous system lesions. Single cases of hematopoietic stem cell transplantation (HSCT) have been described in the treatment of ASMD, which is one of the new methods aimed at normalizing the level of acid sphingomyelinase, blood parameters, as well as reducing the severity of pathological visceral manifestations. However, the development of complications during HSCT, absence of positive therapeutic effect in severe CNS lesions does not allow to widely implement this method. Taking into account the contradictory data on the efficacy of HSCT in ASMD, further clinical studies are required. Analysis of 2 clinical cases of NPAB in children from the same family allowed us to reveal differences in the course and outcomes of the disease at verification of the diagnosis at birth followed by HSCT. Difficulties in diagnosing this extremely rare pathology, which requires a multidisciplinary approach, justify the need to improve methods of early diagnosis, including the organization of genetic risk determination, introduction of prenatal genetic testing before pregnancy.
尼曼-皮克病 A/AB 型（NPAB）是一种罕见的严重遗传性疾病，属于酸性鞘磷脂酶基因缺陷的蓄积性疾病（尼曼-皮克病 B 型，A/B）（ASMD）。神经系统和内脏器官受损的症状在婴儿期就会表现出来，导致残疾，并在儿童期死亡。NPAB 至今无法治愈。该病的最佳治疗需要一个由医生、专家组成的多学科团队。治疗的基础是消除现有的/形成的并发症，对症治疗。酶替代疗法作为改变该病病程的一种手段，有望减缓与中枢神经系统病变无关的病理表现的进展。已有单例造血干细胞移植（HSCT）用于治疗ASMD的病例，这是一种新方法，旨在使酸性鞘磷脂酶水平、血液参数恢复正常，并减轻病理内脏表现的严重程度。然而，造血干细胞移植过程中出现的并发症，以及对严重的中枢神经系统病变缺乏积极的治疗效果，使得这种方法无法广泛应用。考虑到造血干细胞移植对 ASMD 疗效的数据相互矛盾，因此需要进一步的临床研究。通过对来自同一家庭的两名 NPAB 患儿的临床病例进行分析，我们发现了在出生时确诊并进行造血干细胞移植后，病程和预后的差异。诊断这种极其罕见的病症需要多学科的合作，而诊断过程中存在的困难证明有必要改进早期诊断方法，包括组织遗传风险测定、在怀孕前引入产前基因检测等。
{"title":"Course of Niemann – Pick disease type A/B in the context of hematopoietic stem cell transplantation","authors":"I. M. Melnikova, A. A. Pavlikov, E. K. Borisova","doi":"10.21518/ms2024-240","DOIUrl":"https://doi.org/10.21518/ms2024-240","url":null,"abstract":"Niemann – Pick disease type A/B (NPAB) is a rare severe inherited disease from the group of accumulation diseases with a defect in the acid sphingomyelinase gene (Niemann-Pick disease types B, A/B) (ASMD). Symptoms of damage to the nervous system and internal organs manifest in infancy, leading to disability, fatalities in childhood. NPAB is so far incurable. Optimal management of the disease requires a multidisciplinary team of physicians, specialists. The basis of therapy is the elimination of existing/forming complications, symptomatic treatment. Enzyme replacement therapy as a means of modifying the course of this disease is expected to slow down the progression of pathologic manifestations of the disease not related to the central nervous system lesions. Single cases of hematopoietic stem cell transplantation (HSCT) have been described in the treatment of ASMD, which is one of the new methods aimed at normalizing the level of acid sphingomyelinase, blood parameters, as well as reducing the severity of pathological visceral manifestations. However, the development of complications during HSCT, absence of positive therapeutic effect in severe CNS lesions does not allow to widely implement this method. Taking into account the contradictory data on the efficacy of HSCT in ASMD, further clinical studies are required. Analysis of 2 clinical cases of NPAB in children from the same family allowed us to reveal differences in the course and outcomes of the disease at verification of the diagnosis at birth followed by HSCT. Difficulties in diagnosing this extremely rare pathology, which requires a multidisciplinary approach, justify the need to improve methods of early diagnosis, including the organization of genetic risk determination, introduction of prenatal genetic testing before pregnancy.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"38 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141663515","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}
G. A. Polev, N. S. Grachev, R. S. Oganesyan, E. Yaremenko
Introduction. The improvement and prediction of functional status in patients with lymphatic malformations of the head and neck, particularly in neck masses, remains a pressing socio-economic concern. As of the publication of this article, no comprehensive scientific studies have explored the cause-and-effect relationships that impact the functional status of this specific patient demographic.Aim. To elucidate the cause-and-effect relationships impacting the functional status of patients with cervical lymphatic malformations and to develop a predictive model for their functional decline.Materials and methods. A retrospective cohort study was conducted, involving a detailed analysis of the functional status of 115 paediatric and adolescent patients aged 1 month to 17 years, treated for cervical lymphatic malformations at the Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology, from May 2012 to December 2022. The analysis utilised the Cologne Disease Score (CDS), varying according to the histological type of the lymphatic malformations (microcystic, macrocystic, or mixed) and the staging of the de Serres classification.Results and discussion. The study involved 115 patients with a median age of 2.1 years (ranging from 0.4 to 5.5 years). It was determined that the ‘Mixed lymphatic malformations type,’ ‘Stage V of the de Serres classification,’ and ‘Need for surgical treatment’ were clinically and statistically significant prognostic factors for the deterioration of functional status in these patients, reducing the CDS scores by 0.976 to 4.514 points, respectively. These findings supported the development of a predictive model for worsening functional status in this group.Conclusion. The predictive model formulated during this research accounts for the histological type, location, and treatment modality, and is recommended for clinical application within specialised medical institutions.
{"title":"Risk factors for functional state deterioration in patients with lymphatic malformation occuring in the neck region","authors":"G. A. Polev, N. S. Grachev, R. S. Oganesyan, E. Yaremenko","doi":"10.21518/ms2024-247","DOIUrl":"https://doi.org/10.21518/ms2024-247","url":null,"abstract":"Introduction. The improvement and prediction of functional status in patients with lymphatic malformations of the head and neck, particularly in neck masses, remains a pressing socio-economic concern. As of the publication of this article, no comprehensive scientific studies have explored the cause-and-effect relationships that impact the functional status of this specific patient demographic.Aim. To elucidate the cause-and-effect relationships impacting the functional status of patients with cervical lymphatic malformations and to develop a predictive model for their functional decline.Materials and methods. A retrospective cohort study was conducted, involving a detailed analysis of the functional status of 115 paediatric and adolescent patients aged 1 month to 17 years, treated for cervical lymphatic malformations at the Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology, from May 2012 to December 2022. The analysis utilised the Cologne Disease Score (CDS), varying according to the histological type of the lymphatic malformations (microcystic, macrocystic, or mixed) and the staging of the de Serres classification.Results and discussion. The study involved 115 patients with a median age of 2.1 years (ranging from 0.4 to 5.5 years). It was determined that the ‘Mixed lymphatic malformations type,’ ‘Stage V of the de Serres classification,’ and ‘Need for surgical treatment’ were clinically and statistically significant prognostic factors for the deterioration of functional status in these patients, reducing the CDS scores by 0.976 to 4.514 points, respectively. These findings supported the development of a predictive model for worsening functional status in this group.Conclusion. The predictive model formulated during this research accounts for the histological type, location, and treatment modality, and is recommended for clinical application within specialised medical institutions.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"20 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141684771","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}
M. O. Mandrina, T. D. Barbolina, L. Y. Vladimirova, A. Storozhakova, K. Laktionov
Introduction. Monotherapy with EGFR tyrosine kinase inhibitors (TKIs) results in a worse prognosis for patients with the exon 21 L858R mutation than for patients with exon 19 Del. Thus, the search for alternative drug strategies that improve treatment outcomes for patients with NSCLC with the L858R mutation is an urgent problem. This article presents preliminary results of a pilot study of the effectiveness of chemotherapy integrated into targeted anti-EGFR therapy for patients with non-small cell lung cancer (NSCLC) with a mutation in exon 21 of the EGFR gene.Aim. To improve progression-free survival results on first-line therapy in patients with NSCLC with the L858R mutation.Materials and methods. From 2015 to 2021 23 patients were included in the study with advanced L858R 21 exon mutation NSCLC for the first line of treatment. Patients received TKI therapy for the first 2 months, followed by discontinuation of targeted therapy and receiving 3 courses of paclitaxel and carboplatin. Target therapy was then resumed until disease progression. The follow up period was 36 months.Results. The objective response rate (ORR) was 59.1%. Median progression-free survival 23 months [95% CI: 16–36]. Four (18.1%) patients developed grade 3-4 toxicity during chemotherapy, and therefore the 3rd course of chemotherapy was canceled in one patient. Due to toxicity during targeted therapy, gefitinib dose was reduced in one patient and the drug was changed from gefitinib to afatinib in the other one patient.Conclusion. Preliminary results of our study showed that integrating chemotherapy into targeted treatment for this category of patients may become a new worthy option to increase median PFS.
{"title":"The therapeutic features of EGFR L858R exon 21 mutation in non-small cell lung cancer","authors":"M. O. Mandrina, T. D. Barbolina, L. Y. Vladimirova, A. Storozhakova, K. Laktionov","doi":"10.21518/ms2024-228","DOIUrl":"https://doi.org/10.21518/ms2024-228","url":null,"abstract":"Introduction. Monotherapy with EGFR tyrosine kinase inhibitors (TKIs) results in a worse prognosis for patients with the exon 21 L858R mutation than for patients with exon 19 Del. Thus, the search for alternative drug strategies that improve treatment outcomes for patients with NSCLC with the L858R mutation is an urgent problem. This article presents preliminary results of a pilot study of the effectiveness of chemotherapy integrated into targeted anti-EGFR therapy for patients with non-small cell lung cancer (NSCLC) with a mutation in exon 21 of the EGFR gene.Aim. To improve progression-free survival results on first-line therapy in patients with NSCLC with the L858R mutation.Materials and methods. From 2015 to 2021 23 patients were included in the study with advanced L858R 21 exon mutation NSCLC for the first line of treatment. Patients received TKI therapy for the first 2 months, followed by discontinuation of targeted therapy and receiving 3 courses of paclitaxel and carboplatin. Target therapy was then resumed until disease progression. The follow up period was 36 months.Results. The objective response rate (ORR) was 59.1%. Median progression-free survival 23 months [95% CI: 16–36]. Four (18.1%) patients developed grade 3-4 toxicity during chemotherapy, and therefore the 3rd course of chemotherapy was canceled in one patient. Due to toxicity during targeted therapy, gefitinib dose was reduced in one patient and the drug was changed from gefitinib to afatinib in the other one patient.Conclusion. Preliminary results of our study showed that integrating chemotherapy into targeted treatment for this category of patients may become a new worthy option to increase median PFS.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"80 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141358055","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}
Diarrhoea is one of the most common gastroenterological complaints made by patients who seek medical attention. It can be a manifestation of the whole range of different diseases, although not exclusively of the digestive tract, which requires a thorough examination of the patient and often is a challenge for the clinician, especially in the limited time settings during an outpatient visit. The cause of diarrhoea should be identified early to begin treatment of the patient in a timely and rational manner. In managing a patient with diarrhoea, a diagnostic search must begin with the following actions: working out complaints in detail, identification of symptoms of anxiety and taking a medical history, including epidemiological, pharmaceutical, hereditary, allergic, as well as analysis of dietary preferences. A physical examination is an integral part of the patient management; it allows to assess the general health condition, identify signs of dehydration and clinical stigmas of the underlying condition, which may manifest itself as diarrhoea. After an initial examination and exclusion of anxiety symptoms, a number of laboratory and instrumental examination methods is prescribed to determine the cause of diarrhoea. Given the polyetiology of diarrhoea syndrome, the range of methods for examining the patient can be quite wide, therefore the choice of area for the diagnostic search and the scope of the necessary diagnostic procedures is carried out on an individual basis, taking into account the features of the clinical picture, history data and physical examination findings. Treatment of a patient with diarrhoea at the pre-examination stage must include rehydration, timely detection and correction of electrolyte disturbances and other possible complications. Once the cause of diarrhoea has been established, the patient is treated due to the identified etiological factor in accordance with the current clinical guidelines. The article presents a step-by-step algorithm for making a differential diagnosis in a patient with diarrhoea, and also presents our own clinical observations.
{"title":"At an appointment with a patient with diarrhea: the doctor’s algorithm of actions","authors":"O. V. Gaus, M. Livzan, D. A. Gavrilenko","doi":"10.21518/ms2024-213","DOIUrl":"https://doi.org/10.21518/ms2024-213","url":null,"abstract":"Diarrhoea is one of the most common gastroenterological complaints made by patients who seek medical attention. It can be a manifestation of the whole range of different diseases, although not exclusively of the digestive tract, which requires a thorough examination of the patient and often is a challenge for the clinician, especially in the limited time settings during an outpatient visit. The cause of diarrhoea should be identified early to begin treatment of the patient in a timely and rational manner. In managing a patient with diarrhoea, a diagnostic search must begin with the following actions: working out complaints in detail, identification of symptoms of anxiety and taking a medical history, including epidemiological, pharmaceutical, hereditary, allergic, as well as analysis of dietary preferences. A physical examination is an integral part of the patient management; it allows to assess the general health condition, identify signs of dehydration and clinical stigmas of the underlying condition, which may manifest itself as diarrhoea. After an initial examination and exclusion of anxiety symptoms, a number of laboratory and instrumental examination methods is prescribed to determine the cause of diarrhoea. Given the polyetiology of diarrhoea syndrome, the range of methods for examining the patient can be quite wide, therefore the choice of area for the diagnostic search and the scope of the necessary diagnostic procedures is carried out on an individual basis, taking into account the features of the clinical picture, history data and physical examination findings. Treatment of a patient with diarrhoea at the pre-examination stage must include rehydration, timely detection and correction of electrolyte disturbances and other possible complications. Once the cause of diarrhoea has been established, the patient is treated due to the identified etiological factor in accordance with the current clinical guidelines. The article presents a step-by-step algorithm for making a differential diagnosis in a patient with diarrhoea, and also presents our own clinical observations.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"110 28","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141362049","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}
This review presents the main extraintestinal manifestations (EIMs) in patients with inflammatory bowel diseases (IBD), in particular ulcerative colitis (UC) and Crohn’s disease (CD), describes the modern potential mechanisms, classification, characteristics and frequency of the main EIMs (rheumatological, skin, ophthalmological and orofacial manifestations). The issues of the mechanism of action, indications for prescribing ustekinumab are also covered in detail, the place of ustekinumab in the treatment of IBD is highlighted, the effectiveness of this drug in relation to the treatment of IBD is assessed – summarizes the results of a retrospective analysis of data from the UNITI-1, UNITI-2, IM-UNITI clinical trial program, prospective cohort studies, retrospective cohort studies and a registry study on the effect of ustekinumab on the course of various EIMs and the outcomes of immune-mediated diseases (IMDs) in patients with CD and UC. Ustekinumab is a fully monoclonal human immunoglobulin G1k that binds to the common p40 subunit of interleukin (IL)-12 and IL-23, which are actively involved not only in the development of intestinal symptoms, but are also triggers in the development of various EIMs. A review of the literature showed that ustekinumab may be effective for the treatment of EIMs in patients with UC and CD, especially in relation to dermatological and rheumatological manifestations, and is effective against psoriasis and psoriatic arthritis. A literature search of MEDLINE®, EMBASE®, BIOSIS Previews® and DERWENT® and/or other resources, including internal/external databases was conducted on April 15, 2024.
{"title":"Effect of ustekinumab on extraintestinal manifestations in patients with Crohn’s disease or ulcerative colitis","authors":"D. Abdulganieva, D. Mukhametova","doi":"10.21518/ms2024-226","DOIUrl":"https://doi.org/10.21518/ms2024-226","url":null,"abstract":"This review presents the main extraintestinal manifestations (EIMs) in patients with inflammatory bowel diseases (IBD), in particular ulcerative colitis (UC) and Crohn’s disease (CD), describes the modern potential mechanisms, classification, characteristics and frequency of the main EIMs (rheumatological, skin, ophthalmological and orofacial manifestations). The issues of the mechanism of action, indications for prescribing ustekinumab are also covered in detail, the place of ustekinumab in the treatment of IBD is highlighted, the effectiveness of this drug in relation to the treatment of IBD is assessed – summarizes the results of a retrospective analysis of data from the UNITI-1, UNITI-2, IM-UNITI clinical trial program, prospective cohort studies, retrospective cohort studies and a registry study on the effect of ustekinumab on the course of various EIMs and the outcomes of immune-mediated diseases (IMDs) in patients with CD and UC. Ustekinumab is a fully monoclonal human immunoglobulin G1k that binds to the common p40 subunit of interleukin (IL)-12 and IL-23, which are actively involved not only in the development of intestinal symptoms, but are also triggers in the development of various EIMs. A review of the literature showed that ustekinumab may be effective for the treatment of EIMs in patients with UC and CD, especially in relation to dermatological and rheumatological manifestations, and is effective against psoriasis and psoriatic arthritis. A literature search of MEDLINE®, EMBASE®, BIOSIS Previews® and DERWENT® and/or other resources, including internal/external databases was conducted on April 15, 2024.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":" 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141366287","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}
Introduction. Non-alcoholic fatty liver disease (NAFLD) is caused by excess accumulation of fats in hepatocytes. An increasing percentage of adipose tissue is associated with chronic inflammation and developing oxidative stress. These pathological conditions can lead to the progression of steatosis to steatohepatitis with the further development of fibrosis and cirrhosis.Aim. To evaluate the indicators of lipid peroxidation and antioxidant defence factors in steatosis and steatohepatitis in patients with NAFLD.Materials and methods. During the work, 116 patients with NAFLD were examined, of which 65 had steatosis, and 51 had steatohepatitis. The study of biochemical markers of metabolism of proteins, fats and carbohydrates was performed on a Mindray BS-380 biochemical analyzer. The indicators of the LPO-AOD system (MDA, SOD, catalase, ceruloplasmin) were assessed using spectrophotometric methods. Statistical data processing was carried out in the STATISTICA and SPSS 26 programs using nonparametric tests.Results. Patients with steatohepatitis had more severe dyslipidemia, blood triglyceride, total cholesterol levels and LDL were significantly higher (p > 0.05). Impaired cholesterol metabolism was reflected by a high atherogenic index of 3.46. In patients with steatosis, changes in the lipid profile were less pronounced. No disturbances in protein and carbohydrate metabolism were detected. Increased levels of liver markers were noted only in patients with steatohepatitis. The change in the balance in the LPO- AOD system was more pronounced in patients with steatohepatitis; they had a high level of MDA, a high concentration of catalase; in patients with steatosis, only a decrease in the level of MDA and an increase in the level of ceruloplasmin were noted.Conclusion. Dyslipidemia, hepatocyte cytolysis and liver fibrosis are detected in patients with steatohepatitis. Disturbances in the LPO-AOD system have been identified in both forms of NAFLD, but in steatosis they are compensated. In steatohepatitis, disturbances in “LPO-AOD” in the form of an increase in pro-oxidants and a decrease in antioxidants cause the development of oxidative stress.
{"title":"Traits of the lipid peroxidation – antioxidant defence system in non-alcoholic fatty liver disease","authors":"O. V. Smirnova, D. V. Lagutinskaya, I. Kasparova","doi":"10.21518/ms2024-197","DOIUrl":"https://doi.org/10.21518/ms2024-197","url":null,"abstract":"Introduction. Non-alcoholic fatty liver disease (NAFLD) is caused by excess accumulation of fats in hepatocytes. An increasing percentage of adipose tissue is associated with chronic inflammation and developing oxidative stress. These pathological conditions can lead to the progression of steatosis to steatohepatitis with the further development of fibrosis and cirrhosis.Aim. To evaluate the indicators of lipid peroxidation and antioxidant defence factors in steatosis and steatohepatitis in patients with NAFLD.Materials and methods. During the work, 116 patients with NAFLD were examined, of which 65 had steatosis, and 51 had steatohepatitis. The study of biochemical markers of metabolism of proteins, fats and carbohydrates was performed on a Mindray BS-380 biochemical analyzer. The indicators of the LPO-AOD system (MDA, SOD, catalase, ceruloplasmin) were assessed using spectrophotometric methods. Statistical data processing was carried out in the STATISTICA and SPSS 26 programs using nonparametric tests.Results. Patients with steatohepatitis had more severe dyslipidemia, blood triglyceride, total cholesterol levels and LDL were significantly higher (p > 0.05). Impaired cholesterol metabolism was reflected by a high atherogenic index of 3.46. In patients with steatosis, changes in the lipid profile were less pronounced. No disturbances in protein and carbohydrate metabolism were detected. Increased levels of liver markers were noted only in patients with steatohepatitis. The change in the balance in the LPO- AOD system was more pronounced in patients with steatohepatitis; they had a high level of MDA, a high concentration of catalase; in patients with steatosis, only a decrease in the level of MDA and an increase in the level of ceruloplasmin were noted.Conclusion. Dyslipidemia, hepatocyte cytolysis and liver fibrosis are detected in patients with steatohepatitis. Disturbances in the LPO-AOD system have been identified in both forms of NAFLD, but in steatosis they are compensated. In steatohepatitis, disturbances in “LPO-AOD” in the form of an increase in pro-oxidants and a decrease in antioxidants cause the development of oxidative stress.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":" 25","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141365987","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}
M. Ardatskaya, L. Butorova, A. A. Anuchkin, I. N. Gaivoronsky, A. I. Pavlov, O. Y. Patsenko
Symptoms of constipation such as derangements of the motor, secretory and/or evacuation functions of the colon are recorded occasionally or for a long period in at least 20% of the population in economically developed countries. QoL is significantly impaired in patients with chronic constipation. The frequency, time of bowel movement and stool consistency is, in large part, determined by the motor function of the colon. The primary approach to the treatment algorithm for chronic constipation (CC) is modification of a lifestyle and a diet rich in dietary fiber. If dietary measures provide poor efficacy, laxatives are prescribed to the patients. According to the current guidelines, therapeutic approaches to the treatment of CC should include the sequential administration of laxatives that increase the volume of contents and stimulate the motor function of the colon. According to the Russian Gastroenterological Association guidelines for the diagnosis and treatment of chronic diseases in adult patients, it is reasonable to use stimulant laxatives as second-line drugs. Contact laxatives, which increase intestinal peristalsis due to stimulation of nerve endings in the intestinal mucosa, have been shown to be more effective in treating chronic constipation than placebo. Among the drugs in this group, Bisacodyl®, a diphenylmethane derivative, and Regulax® Picosulfate, a sodium picosulfate derivative, are the most studied ones. These substances are hydrolyzed into bis-(p-hydroxyphenyl)-pyridyl-2-methane in the intestine, which, on contact with the receptors in colonic mucosa, stimulates propulsive activity and increases intestinal secretions. Regulax® Picosulfate is effective and safe in patients with acute and chronic constipation of various origin.
{"title":"Chronic constipation: current options of pathogenetic therapy","authors":"M. Ardatskaya, L. Butorova, A. A. Anuchkin, I. N. Gaivoronsky, A. I. Pavlov, O. Y. Patsenko","doi":"10.21518/ms2024-181","DOIUrl":"https://doi.org/10.21518/ms2024-181","url":null,"abstract":"Symptoms of constipation such as derangements of the motor, secretory and/or evacuation functions of the colon are recorded occasionally or for a long period in at least 20% of the population in economically developed countries. QoL is significantly impaired in patients with chronic constipation. The frequency, time of bowel movement and stool consistency is, in large part, determined by the motor function of the colon. The primary approach to the treatment algorithm for chronic constipation (CC) is modification of a lifestyle and a diet rich in dietary fiber. If dietary measures provide poor efficacy, laxatives are prescribed to the patients. According to the current guidelines, therapeutic approaches to the treatment of CC should include the sequential administration of laxatives that increase the volume of contents and stimulate the motor function of the colon. According to the Russian Gastroenterological Association guidelines for the diagnosis and treatment of chronic diseases in adult patients, it is reasonable to use stimulant laxatives as second-line drugs. Contact laxatives, which increase intestinal peristalsis due to stimulation of nerve endings in the intestinal mucosa, have been shown to be more effective in treating chronic constipation than placebo. Among the drugs in this group, Bisacodyl®, a diphenylmethane derivative, and Regulax® Picosulfate, a sodium picosulfate derivative, are the most studied ones. These substances are hydrolyzed into bis-(p-hydroxyphenyl)-pyridyl-2-methane in the intestine, which, on contact with the receptors in colonic mucosa, stimulates propulsive activity and increases intestinal secretions. Regulax® Picosulfate is effective and safe in patients with acute and chronic constipation of various origin.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":" 1211","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141363564","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}
V. V. Tsukanov, A. V. Vasyutin, M. V. Smolnikova, S. K. Hirlig-ool, E. Kasparov, J. L. Tonkikh
Introduction. Russia is among the leaders in incidence and mortality from gastric cancer (GC). The incidence of gastric cancer in the Republic of Tyva is especially abnormally high. Currently, there is interest in studying genetic factors in various types of cancer. But for GC, such research is not enough.Aim. To study the polymorphism of the apoptosis marker genes CASP9 (rs1052576), TP53 (rs1042522), FAS/APO-1 (rs2234767) in the blood of indigenous people with GC in the Republic of Tyva.Materials and methods. 107 Tuvinians were examined (47 people with GC and 60 persons in the control group). The diagnosis of GC was established on the basis of a comprehensive laboratory, instrumental and morphological examination by oncologists at the Republican Oncology Dispensary. Genotyping of polymorphisms rs1052576 CASP9, rs2234767 FAS/APO-1 and rs1042522 TP53 was carried out in all 47 patients with GC and in 60 people in the control group using the polymerase chain reaction method from DNA samples isolated from venous blood.Results. In patients with GC, compared with healthy individuals, the mutant allele G (44.7% versus 27.5%; p = 0.01) and the homozygous genotype GG (23.4% versus 6.7%; p = 0.03) of polymorphism rs1042522 TP53, as well as mutant allele A (57.4% versus 32.5%; p < 0.001) and homozygous genotype AA (31.9% versus 15.0%; p = 0.05) of polymorphism rs2234767 FAS/ APO-1 were more often registered among indigenous inhabitants of the Republic of Tyva. The frequency of various genotypes and alleles of the polymorphism rs1052576 CASP9 did not differ significantly between patients with GC and healthy individuals.Conclusion. Based on these results, it can be assumed that the A allele of rs2234767 FAS/APO-1 and the disruption of the anti-oncogenic function of the p53 protein produced by the G allele of rs1042522 TP53 are associated with GC and can be used as markers to determine increased risk in the population of indigenous residents of the Republic of Tyva.
{"title":"Polymorphism of apoptosis marker genes in the blood of indigenous people with gastric cancer in the Republic of Tyva","authors":"V. V. Tsukanov, A. V. Vasyutin, M. V. Smolnikova, S. K. Hirlig-ool, E. Kasparov, J. L. Tonkikh","doi":"10.21518/ms2024-198","DOIUrl":"https://doi.org/10.21518/ms2024-198","url":null,"abstract":"Introduction. Russia is among the leaders in incidence and mortality from gastric cancer (GC). The incidence of gastric cancer in the Republic of Tyva is especially abnormally high. Currently, there is interest in studying genetic factors in various types of cancer. But for GC, such research is not enough.Aim. To study the polymorphism of the apoptosis marker genes CASP9 (rs1052576), TP53 (rs1042522), FAS/APO-1 (rs2234767) in the blood of indigenous people with GC in the Republic of Tyva.Materials and methods. 107 Tuvinians were examined (47 people with GC and 60 persons in the control group). The diagnosis of GC was established on the basis of a comprehensive laboratory, instrumental and morphological examination by oncologists at the Republican Oncology Dispensary. Genotyping of polymorphisms rs1052576 CASP9, rs2234767 FAS/APO-1 and rs1042522 TP53 was carried out in all 47 patients with GC and in 60 people in the control group using the polymerase chain reaction method from DNA samples isolated from venous blood.Results. In patients with GC, compared with healthy individuals, the mutant allele G (44.7% versus 27.5%; p = 0.01) and the homozygous genotype GG (23.4% versus 6.7%; p = 0.03) of polymorphism rs1042522 TP53, as well as mutant allele A (57.4% versus 32.5%; p < 0.001) and homozygous genotype AA (31.9% versus 15.0%; p = 0.05) of polymorphism rs2234767 FAS/ APO-1 were more often registered among indigenous inhabitants of the Republic of Tyva. The frequency of various genotypes and alleles of the polymorphism rs1052576 CASP9 did not differ significantly between patients with GC and healthy individuals.Conclusion. Based on these results, it can be assumed that the A allele of rs2234767 FAS/APO-1 and the disruption of the anti-oncogenic function of the p53 protein produced by the G allele of rs1042522 TP53 are associated with GC and can be used as markers to determine increased risk in the population of indigenous residents of the Republic of Tyva.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"120 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141360805","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}
D. Trukhan, M. Y. Rozhkova, Iu. G. Samoilova, O. Oleynik, M. V. Matveeva
Introduction. Non-alcoholic fatty liver disease (NAFLD) is caused by excess accumulation of fats in hepatocytes. An increasing percentage of adipose tissue is associated with chronic inflammation and developing oxidative stress. These pathological conditions can lead to the progression of steatosis to steatohepatitis with the further development of fibrosis and cirrhosis.Aim. To evaluate the indicators of lipid peroxidation and antioxidant defence factors in steatosis and steatohepatitis in patients with NAFLD.Materials and methods. During the work, 116 patients with NAFLD were examined, of which 65 had steatosis, and 51 had steatohepatitis. The study of biochemical markers of metabolism of proteins, fats and carbohydrates was performed on a Mindray BS-380 biochemical analyzer. The indicators of the LPO-AOD system (MDA, SOD, catalase, ceruloplasmin) were assessed using spectrophotometric methods. Statistical data processing was carried out in the STATISTICA and SPSS 26 programs using nonparametric tests.Results. Patients with steatohepatitis had more severe dyslipidemia, blood triglyceride, total cholesterol levels and LDL were significantly higher (p > 0.05). Impaired cholesterol metabolism was reflected by a high atherogenic index of 3.46. In patients with steatosis, changes in the lipid profile were less pronounced. No disturbances in protein and carbohydrate metabolism were detected. Increased levels of liver markers were noted only in patients with steatohepatitis. The change in the balance in the LPO- AOD system was more pronounced in patients with steatohepatitis; they had a high level of MDA, a high concentration of catalase; in patients with steatosis, only a decrease in the level of MDA and an increase in the level of ceruloplasmin were noted.Conclusion. Dyslipidemia, hepatocyte cytolysis and liver fibrosis are detected in patients with steatohepatitis. Disturbances in the LPO-AOD system have been identified in both forms of NAFLD, but in steatosis they are compensated. In steatohepatitis, disturbances in “LPO-AOD” in the form of an increase in pro-oxidants and a decrease in antioxidants cause the development of oxidative stress.
{"title":"Biliary tract dysfunctions: Possibilities of combined drugs of plant origin as advantage therapy","authors":"D. Trukhan, M. Y. Rozhkova, Iu. G. Samoilova, O. Oleynik, M. V. Matveeva","doi":"10.21518/ms2024-211","DOIUrl":"https://doi.org/10.21518/ms2024-211","url":null,"abstract":"Introduction. Non-alcoholic fatty liver disease (NAFLD) is caused by excess accumulation of fats in hepatocytes. An increasing percentage of adipose tissue is associated with chronic inflammation and developing oxidative stress. These pathological conditions can lead to the progression of steatosis to steatohepatitis with the further development of fibrosis and cirrhosis.Aim. To evaluate the indicators of lipid peroxidation and antioxidant defence factors in steatosis and steatohepatitis in patients with NAFLD.Materials and methods. During the work, 116 patients with NAFLD were examined, of which 65 had steatosis, and 51 had steatohepatitis. The study of biochemical markers of metabolism of proteins, fats and carbohydrates was performed on a Mindray BS-380 biochemical analyzer. The indicators of the LPO-AOD system (MDA, SOD, catalase, ceruloplasmin) were assessed using spectrophotometric methods. Statistical data processing was carried out in the STATISTICA and SPSS 26 programs using nonparametric tests.Results. Patients with steatohepatitis had more severe dyslipidemia, blood triglyceride, total cholesterol levels and LDL were significantly higher (p > 0.05). Impaired cholesterol metabolism was reflected by a high atherogenic index of 3.46. In patients with steatosis, changes in the lipid profile were less pronounced. No disturbances in protein and carbohydrate metabolism were detected. Increased levels of liver markers were noted only in patients with steatohepatitis. The change in the balance in the LPO- AOD system was more pronounced in patients with steatohepatitis; they had a high level of MDA, a high concentration of catalase; in patients with steatosis, only a decrease in the level of MDA and an increase in the level of ceruloplasmin were noted.Conclusion. Dyslipidemia, hepatocyte cytolysis and liver fibrosis are detected in patients with steatohepatitis. Disturbances in the LPO-AOD system have been identified in both forms of NAFLD, but in steatosis they are compensated. In steatohepatitis, disturbances in “LPO-AOD” in the form of an increase in pro-oxidants and a decrease in antioxidants cause the development of oxidative stress.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"112 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141362996","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}
Russia and most countries of the world are currently facing pressures on their health services because of the growing number of diseases associated with unhealthy lifestyles: type 2 diabetes, obesity, non-alcoholic fatty liver disease, etc. Lifestyle modification is the first prerequisite in the treatment of non-alcoholic fatty liver disease and other diseases associated with unhealthy lifestyle. The use of lactitol provides the opportunity to make this process more effective, as it is able to increase the production of butyrate, reduce the damage to the intestine barrier structure, and interact with sweet-taste receptors. Lactitol has a low glycaemic index, it is not absorbed in the intestine and is fermented like dietary fibres. The results of the studies showed that the metabolic response to this drug corresponds to a lower increase in plasma glucose, insulin and C-peptide levels compared to the use of glucose in healthy, non-obese men. It has been shown through various experiments in animals and in humans that lactitol also reduces the plasma triglyceride levels, probably due to reduced triglyceride absorption as a result of accelerated transit of intestinal contents. An important property of the drug is its ability to increase the glucagon-like peptide-1 (GLP-1) and PYY levels, which is accompanied by delayed gastric emptying and reduced hunger, which is essential in the treatment of obesity, type 2 diabetes mellitus and non-alcoholic fatty liver disease. A 120-day randomized controlled trial was conducted to assess the efficacy, safety, and tolerability of lactitol in 139 patients with nonalcoholic fatty liver disease. Twice-daily administration of lactitol 6 g in addition to lifestyle modification events has been shown to increase their efficacy expressed as a significant decrease in ALT levels and an increase in the AST/ALT ratio compared to control subjects. Lactitol can be considered as a metabolic corrector and used in the treatment of diseases associated with an unhealthy lifestyle.
俄罗斯和世界上大多数国家目前都面临着医疗服务的压力，因为与不健康生活方式相关的疾病日益增多：2 型糖尿病、肥胖症、非酒精性脂肪肝等。改变生活方式是治疗非酒精性脂肪肝和其他与不健康生活方式相关疾病的首要前提。乳糖醇能够增加丁酸盐的产生，减少对肠道屏障结构的破坏，并与甜味受体相互作用，因此乳糖醇的使用为提高这一过程的有效性提供了机会。乳糖醇的血糖指数较低，不会被肠道吸收，而且会像膳食纤维一样被发酵。研究结果表明，与使用葡萄糖相比，健康、非肥胖男性对这种药物的代谢反应相当于较低的血浆葡萄糖、胰岛素和 C 肽水平的增加。各种动物和人体实验表明，乳糖醇还能降低血浆中甘油三酯的水平，这可能是由于肠道内容物加速转运，减少了甘油三酯的吸收。该药物的一个重要特性是能够提高胰高血糖素样肽-1（GLP-1）和PYY的水平，从而延迟胃排空，减少饥饿感，这对治疗肥胖症、2 型糖尿病和非酒精性脂肪肝至关重要。一项为期 120 天的随机对照试验评估了乳糖醇对 139 名非酒精性脂肪肝患者的疗效、安全性和耐受性。结果表明，与对照组相比，每天两次服用乳糖醇（6 克）以及改变生活方式可提高疗效，具体表现为谷丙转氨酶（ALT）水平显著下降，谷草转氨酶（AST）/谷丙转氨酶（ALT）比值上升。乳糖醇可被视为一种代谢调节剂，用于治疗与不健康生活方式有关的疾病。
{"title":"Lactitol properties in the treatment of patients with lifestyle-related diseases","authors":"M. Maevskaya, S. V. Okovityi","doi":"10.21518/ms2024-184","DOIUrl":"https://doi.org/10.21518/ms2024-184","url":null,"abstract":"Russia and most countries of the world are currently facing pressures on their health services because of the growing number of diseases associated with unhealthy lifestyles: type 2 diabetes, obesity, non-alcoholic fatty liver disease, etc. Lifestyle modification is the first prerequisite in the treatment of non-alcoholic fatty liver disease and other diseases associated with unhealthy lifestyle. The use of lactitol provides the opportunity to make this process more effective, as it is able to increase the production of butyrate, reduce the damage to the intestine barrier structure, and interact with sweet-taste receptors. Lactitol has a low glycaemic index, it is not absorbed in the intestine and is fermented like dietary fibres. The results of the studies showed that the metabolic response to this drug corresponds to a lower increase in plasma glucose, insulin and C-peptide levels compared to the use of glucose in healthy, non-obese men. It has been shown through various experiments in animals and in humans that lactitol also reduces the plasma triglyceride levels, probably due to reduced triglyceride absorption as a result of accelerated transit of intestinal contents. An important property of the drug is its ability to increase the glucagon-like peptide-1 (GLP-1) and PYY levels, which is accompanied by delayed gastric emptying and reduced hunger, which is essential in the treatment of obesity, type 2 diabetes mellitus and non-alcoholic fatty liver disease. A 120-day randomized controlled trial was conducted to assess the efficacy, safety, and tolerability of lactitol in 139 patients with nonalcoholic fatty liver disease. Twice-daily administration of lactitol 6 g in addition to lifestyle modification events has been shown to increase their efficacy expressed as a significant decrease in ALT levels and an increase in the AST/ALT ratio compared to control subjects. Lactitol can be considered as a metabolic corrector and used in the treatment of diseases associated with an unhealthy lifestyle.","PeriodicalId":18391,"journal":{"name":"Meditsinskiy sovet = Medical Council","volume":"109 47","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141360980","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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