Clinical pharmacology and therapy最新文献_第7页

Family genetic screening in rare hereditary diseases 罕见遗传病的家族遗传筛查

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-6-12

S. Kutsev, S. Moiseev

{"title":"Family genetic screening in rare hereditary diseases","authors":"S. Kutsev, S. Moiseev","doi":"10.32756/0869-5490-2021-4-6-12","DOIUrl":"https://doi.org/10.32756/0869-5490-2021-4-6-12","url":null,"abstract":"Family genetic testing of probands with newly diagnosed rare hereditary diseases including Fabry disease improves early diagnosis and allows to initiate specific treatment, if available, at earlier stage in affected family members. Diagnosis of Fabry disease, an X-linked lysosomal storage disorder affecting kidneys, heart, brain and other organs, is usually late due to low awareness of physicians about rare diseases. Moreover, early symptoms can be non-specific (e.g. gastrointestinal disorders and autonomic neuropathy) or misleading (e.g. recurrent unexplained fever) whereas characteristic skin rash and keratopathy (cornea verticillata) are frequently overlooked. Undiagnosed patients with Fabry disease can be detected by screening in at-risk populations, such as patients with end-stage renal disease undergoing dialysis or renal transplantation, patients with unexplained left ventricular hypertrophy, and young adults with a history of stroke or transient ischemic attack who have a higher prevalence of the disease compared to general population. High-risk screening paves the way to family screening to identify affected relatives, including children, who can benefit from earlier treatment and genetic counselling. The major barriers to family screening include costs of testing, cultural and societal issues, stigma associated with a diagnosis of genetic disease, low contacts in the family, weak infrastructure, national regulations.","PeriodicalId":10353,"journal":{"name":"Clinical pharmacology and therapy","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88307668","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}

引用次数: 0

AA-amyloidosis in autoinflammatory diseases 自身炎症性疾病中的aa -淀粉样变

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-52-61

V. Rameev, S. Moiseev, L. Lysenko (Kozlovskaya)

引用次数: 2

Elimination of hepatitis C virus in patients on the waiting list for liver transplantation 消除肝移植候诊患者的丙型肝炎病毒

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-29-35

E. Nabatchikova, T. Rozina, E. Nikulkina, E. Tanaschuk, S. A. Parfenova, N.Y. Nyaikina, L. V. Dubrovskaya, E. Starostina, D. Abdurakhmanov

引用次数: 0

Tolerability and safety of Gam-COVID-Vac (Sputnik V) vaccine in adult patients with autoimmune rheumatic diseases Gam-COVID-Vac (Sputnik V)疫苗在成人自身免疫性风湿病患者中的耐受性和安全性

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-23-28

N. Bulanov, P. Novikov, S. Gulyaev, I. Smitienko, A. Meshkov, O.O. Borodin, E. Makarov, T. Shevtsova, E. Shchegoleva, V. Nadtocheeva, A. V. Naumov, M. Brovko, S. Moiseev

引用次数: 5

Efficacy and safety of levilimab, a monoclonal antibody to interleukin-6 receptors, in patients with rheumatoid arthritis leilimab是一种针对白细胞介素-6受体的单克隆抗体，用于类风湿关节炎患者的疗效和安全性

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-36-43

P. Novikov, E. Shchegoleva, S. Moiseev

{"title":"Efficacy and safety of levilimab, a monoclonal antibody to interleukin-6 receptors, in patients with rheumatoid arthritis","authors":"P. Novikov, E. Shchegoleva, S. Moiseev","doi":"10.32756/0869-5490-2021-4-36-43","DOIUrl":"https://doi.org/10.32756/0869-5490-2021-4-36-43","url":null,"abstract":"Interleukin (IL)-6 is a proinlammatory cytokine contributing significantly to the pathogenesis of joint disease and systemic manifestations of rheumatoid arthritis (RA). Levilimab is a new original monoclonal antibody that blocks both soluble and membrane-bound IL-6 receptors. Efficacy and favorable safety profile of levilimab in combination with methotrexate were shown in two randomized double-blind placebo-controlled trials (AURORA and SOLAR) that included patients with active RA despite treatment with methotrexate alone. Both primary and multiple secondary efficacy endpoints including ACR response, low disease activity or remission rates, changes in RA activity scores, etc, confirmed a higher efficacy of levilimab compared to placebo. Profile of adverse events was typical for IL-inhibitors. Several observational studies suggested that unlike rituximab or medium or high dose glucocorticoids IL-6 receptors inhibitors do not worsen outcomes of COVID19 and do not impair immunogenicity of vaccines against COVID-19. Therefore, patients treated with levilimab should not delay vaccination or modify the dosing regimen prior to vaccination.","PeriodicalId":10353,"journal":{"name":"Clinical pharmacology and therapy","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76454809","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}

引用次数: 0

Systemic lupus erythematosus: epidemiology, outcomes and burden 系统性红斑狼疮:流行病学、结局和负担

Clinical pharmacology and therapy Pub Date : 2021-11-13 DOI: 10.32756/0869-5490-2021-4-13-22

S. Moiseev, P. Novikov, N. Bulanov

{"title":"Systemic lupus erythematosus: epidemiology, outcomes and burden","authors":"S. Moiseev, P. Novikov, N. Bulanov","doi":"10.32756/0869-5490-2021-4-13-22","DOIUrl":"https://doi.org/10.32756/0869-5490-2021-4-13-22","url":null,"abstract":"The estimates of incidence and prevalence of systemic lupus erythematosus (SLE) in Europe are 1.5-4.9 per 100 000 persons-years and 30-70 per 100 000 people, respectively. Over the last 50 years, survival in SLE patients has improved significantly. Moreover, immunosuppressive treatment resulted in a decreased risk of death from active disease, whereas infections and cardiovascular disease have become the main causes of death in SLE populations. Almost 70% of SLE patients have recurrent course of disease, although long-term remissions or persistent disease activity also occur in a proportion of patients. Annually, every third SLE patient develops moderately severe or severe flares. Recurrent flares, complications of immunosuppressive treatment and comorbidity are associated with accrual of organ damage that increases the risk of death. SLE patients have impaired health-related quality of life correlating with both disease activity and organ damage. Being on remission of SLE or on low disease activity is associated with better outcomes, including lower mortality and risk of damage or flares, improved quality of life, lower hospitalisation rates and costs. Glucocorticoids remain the mainstay of SLE treatment, although their use should be limited, e.g. by proper administration of immunosuppressive or antiinflammatory agents that have steroid-sparing activity. Treatment and prevention of infections and cardiovascular outcomes are also essential for further improvement of survival of SLE patients.","PeriodicalId":10353,"journal":{"name":"Clinical pharmacology and therapy","volume":"106 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78189810","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}

引用次数: 1

Levilimab, a monoclonal antibody to IL-6 receptors, in COVID-19 IL-6受体单克隆抗体来利单抗在COVID-19中的作用

Clinical pharmacology and therapy Pub Date : 2021-09-05 DOI: 10.32756/0869-5490-2021-3-67-75

P. Novikov, M. Brovko, V. Sholomova, L. Akulkina, V. Nadtocheeva, S. Moiseev

{"title":"Levilimab, a monoclonal antibody to IL-6 receptors, in COVID-19","authors":"P. Novikov, M. Brovko, V. Sholomova, L. Akulkina, V. Nadtocheeva, S. Moiseev","doi":"10.32756/0869-5490-2021-3-67-75","DOIUrl":"https://doi.org/10.32756/0869-5490-2021-3-67-75","url":null,"abstract":"Levilimab, a monoclonal antibody interacting with soluble and mebrane bound IL-6 receptors, was recently approved in Russia for the treatment of acute respiratory distress syndrome in COVID-19 patients. Efficacy and favorable safety profile of levilimab were shown in the randomised doubleblind placebo controlled CORONA trial in 206 patients with COVID-19 associated pneumonia, who had at least one criteria of the disease severity, that is, increased respiration rate, reduced SpO2 (≤93%) or PaO2 /FiO2 (≤300 mm Hg), progressive lung disease, etc. The primary end-point of this study was the percentage of patients with stable improvement by ordinal scale (without a need in rescue levilimab injection) at day 14. Stable improvement was achieved in 63.1% and 42.7% of patients in the levilimab and placebo groups, respectively (р=0.0017), and this difference was consistent at the end of 30-day follow-up. Analysis of various secondary end-points, such as a need in rescue open-label levilimab or admission to ICU, confirmed efficacy of IL-6 inhibitor in patients with COVID -19. IL-6 inhibition was not associated with a higher risk of opportunistic infections. The authors present the case of successful levilimab administration in hospitalized patient with hypoxia and systemic inflammation and discuss the practical issues of IL-6 inhibitors use in COVID-19 patients.","PeriodicalId":10353,"journal":{"name":"Clinical pharmacology and therapy","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78997834","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}

引用次数: 0

Eligibility of the prognostic systems in assessing the severity of liver cirrhosis 评估肝硬化严重程度的预后系统的适用性

Clinical pharmacology and therapy Pub Date : 2021-09-05 DOI: 10.32756/0869-5490-2021-3-7-12

V. Syutkin

{"title":"Eligibility of the prognostic systems in assessing the severity of liver cirrhosis","authors":"V. Syutkin","doi":"10.32756/0869-5490-2021-3-7-12","DOIUrl":"https://doi.org/10.32756/0869-5490-2021-3-7-12","url":null,"abstract":"Assessment of the severity of liver cirrhosis as a mandatory parameter includes a characteristic of the degree of its compensation. Detailed historical research has shown that this characteristic of liver disease has no authorship, no precise definition, and seems to be a matter of course for the medical community. Moreover, the term “decompensation” (the adjustment of certain functions due to the adaptation of other organs and systems) does not reflect the pathophysiology of changes developing in patients with terminal liver cirrhosis. When determining the degree of compensation for cirrhosis, physicians are forced to focus on the classification of Child and Turcotte in Pugh's modification. This system was developed to assess the outcome of surgical treatment of portal hypertension and validated to predict the survival of patients with liver cirrhosis (expectation of an event in the future) in the short and medium term, but cannot be orrectly applied to assess the severity of liver cirrhosis (at the time of assessment). The inadequacy of the Child-Pugh prognostic system for assessing the severity of liver cirrhosis was shown by the example of determining the possibility of using HCV protease inhibitors in patients with complicated (“decompensated”) liver cirrhosis. It is necessary to develop new principles for assessing the severity of liver cirrhosis, in particular, in relation to the disorders of drug metabolism and the potential toxicity of drugs and their metabolites.","PeriodicalId":10353,"journal":{"name":"Clinical pharmacology and therapy","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87666418","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}

引用次数: 0

Clinical manifestations and outcomes of Fabry disease in 150 adult patients 150例成人法布里病的临床表现及转归

Clinical pharmacology and therapy Pub Date : 2021-09-05 DOI: 10.32756/0869-5490-2021-3-43-51

A. Moiseev, S. Moiseev, E. Tao, N. Bulanov, E. Mershina, D. Ismailova, N. Nosova, A. Kuchieva, V. Sholomova, P. Novikov, E. Pavlikova, V. Fomin, A. Safarova

引用次数: 5

Current judgments regarding COVID-19 vaccination in patients with autoimmune inflammatory rheumatic diseases 自身免疫性炎症性风湿病患者COVID-19疫苗接种的现状判断

Clinical pharmacology and therapy Pub Date : 2021-09-05 DOI: 10.32756/0869-5490-2021-3-13-17

Y. Muravyov

引用次数: 0