Reumatologia最新文献

{"title":"VEXAS syndrome: a newly discovered systemic rheumatic disorder.","authors":"Eugenisz J Kucharz","doi":"10.5114/reum/163090","DOIUrl":"https://doi.org/10.5114/reum/163090","url":null,"abstract":"<p><p>VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the <i>UBA1</i> gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/ad/RU-61-163090.PMC10201379.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9517164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Musculoskeletal diseases as the basis for issuing disability certificates for children.","authors":"Barbara Nieradko-Iwanicka,&nbsp;Janusz Andrzej Iwanicki","doi":"10.5114/reum/163095","DOIUrl":"https://doi.org/10.5114/reum/163095","url":null,"abstract":"<p><strong>Introduction: </strong>There are nearly 240 million children living with disabilities worldwide - 1 in 10 of all children. The Polish disability certification system is characterized by a significant level of complexity. At the same time the Social Insurance Institution (ZUS), Agricultural Social Insurance Fund (KRUS) and poviat/city disability adjudication teams, voivodeship disability adjudication teams/councils, the Ministry of Family and Social Policy supervising poviat and voivodeship teams/councils issue different certificates. The system is complemented by the appeals to the court which resolve complaints against the decisions of voivodship teams. Children are considered individuals under 16 years of age. They can get a disability certificate if necessary. The aim of the study was to investigate the characteristics of children obtaining a disability certificate due to diseases of the locomotor system in Lublin within the last 16 years.</p><p><strong>Material and methods: </strong>The authors asked the Municipal Disability Adjudication Council in Lublin to provide data on the number of disability certificates issued for children up to 16 years of age in the years 2006-2021.The data used for the analysis come from the electronic system that collects and processes them according to the assumed patterns.</p><p><strong>Results: </strong>In the years 2006-2021 the Municipal Disability Adjudication Council in Lublin issued 9,929 disability certificates for children up to 16 years of age. The total number of certificates issued because of musculoskeletal disorders was 1,085 (mean 68/year). Majority of the recipients were 8-16 years old. There were 524 girls (mean 32.75/year) and 561 boys (mean 35.06/year).</p><p><strong>Conclusions: </strong>In children musculoskeletal problems are in the third position after diseases of the respiratory tract and developmental disorders as the reason for obtaining a disability certificate in Lublin. Comparing this data with others, it can be concluded that the situation is similar to data from developed countries.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/19/da/RU-61-163095.PMC10201381.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9517170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kawasaki disease in children: a retrospective cross-sectional study.","authors":"Ali Hosseininasab,&nbsp;Fahime Pashang,&nbsp;Mohammad Rezaei Zadeh Rukerd,&nbsp;Hanieh Mirkamali,&nbsp;Mohsen Nakhaie,&nbsp;Amin Sayyadi","doi":"10.5114/reum/163170","DOIUrl":"https://doi.org/10.5114/reum/163170","url":null,"abstract":"<p><strong>Introduction: </strong>Kawasaki disease (KD) is a systemic vasculitis, seen mostly in children. Epidemiology of KD is dependent on geographical location and seasonality. Although many years have passed since the first report of KD, multiple related factors are still unknown.</p><p><strong>Material and methods: </strong>We investigated the clinical, paraclinical, and therapeutic aspects of KD in Kerman, Iran by performing a retrospective, descriptive, cross-sectional study on all children hospitalized due to KD between 2007 and 2020.</p><p><strong>Results: </strong>A total of 340 patients with mean ±SD age of 29.83 ±22.55 months participated in the study. Most of our patients were two to five years old. The male : female ratio was ~ 1.4 : 1. A few of our patients had a family history of KD or vasculitis (0.3%, 1.7%). Typical KD was more common by a large margin (316 patients with typical KD). More than half of our patients had a duration of hospitalization of under ten days. All of our patients were febrile. Hand/foot and lip/mouth changes were the second and third most common clinical findings in more than 60% of our patients. Other manifestations were conjunctivitis in 40%, skin rashes in 34.8%, gastrointestinal manifestations in 33.9%, and lymphadenopathy in 25.3%. Echocardiography revealed abnormalities in 78.6% of the participants; coronary artery aneurysm (CAA) was the most frequent (22.5%) and follow-up echocardiography revealed that all of them regressed within 6 months after treatment. The two laboratory tests with the highest ratio of abnormality were erythrocyte sedimentation rate (95%) and hemoglobin (83.3%). C-reactive protein and liver function tests were also abnormal in most patients. All of our patients received intravenous immunoglobulin and acetylsalicylic acid.</p><p><strong>Conclusions: </strong>Kawasaki disease must be considered in every febrile child, especially those with risk factors, because timely diagnosis and treatment are essential to prevent complications. Health policies should focus on appropriate diagnosis and treatment to prevent the occurrence of sequelae.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/71/f9/RU-61-163170.PMC10373172.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9907778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VEXAS syndrome: an adult-onset monogenic autoinflammatory disease with many unanswered questions.","authors":"José Hernández-Rodríguez,&nbsp;Jakub Nieścieruk,&nbsp;Maria Maślińska","doi":"10.5114/reum/165994","DOIUrl":"https://doi.org/10.5114/reum/165994","url":null,"abstract":"José Hernández-Rodríguez1,2,3,4 ID , Jakub Nieścieruk5 ID , Maria Maślińska4,5 ID 1Clinical Unit of Autoinflammatory Diseases and Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, Spain 2Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain 3Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) 4Center of the European Reference Network (ERN) on Connective Tissue and Musculoskeletal Diseases (ReCONNET) 5Early Arthritis Clinic, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cf/76/RU-61-165994.PMC10201377.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10310966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Selected musculoskeletal disorders in patients with thyroid dysfunction, diabetes, and obesity.","authors":"Nicola Dyrek,&nbsp;Agnieszka Wikarek,&nbsp;Małgorzata Niemiec,&nbsp;Piotr Kocełak","doi":"10.5114/reum/170312","DOIUrl":"https://doi.org/10.5114/reum/170312","url":null,"abstract":"<p><p>Many medical conditions affect the skeletal system and constitute independent risk factors for fractures. The action of thyroid hormones is necessary to maintain adequate development, mineralization, and bone strength. Untreated hyperthyroidism can lead to a decrease in bone mineral density (BMD), osteoporosis, and pathological fractures. In hypothyroidism, the changes in the quality of bone structure lead to an increase in the frequency of fractures. Excessive body weight negatively impacts fracture risk, increases the risk of osteoarthritis and accelerates the development of rheumatoid arthritis and osteoporosis. Type 1 and type 2 diabetes are associated with an increased risk of bone fractures despite different etiopathogenesis due to the duration of the disease and the pro-inflammatory state, the incorporation of advanced glycation end products (AGEs) into the bone matrix, and microvascular disorders. This study summarizes the current literature on the influence of thyroid dysfunction, obesity, and diabetes on the skeletal system.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d5/af/RU-61-170312.PMC10515130.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41132893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary hyperparathyroidism: clinical manifestations, diagnosis and evaluation according to the Fifth International Workshop guidelines.","authors":"Magdalena Kochman","doi":"10.5114/reum/170705","DOIUrl":"https://doi.org/10.5114/reum/170705","url":null,"abstract":"<p><p>Primary hyperparathyroidism (PHPT) is a frequent endocrine disease which mainly affects the skeletal system and kidney. Some of its signs and symptoms are similar to those seen in rheumatic diseases such as rheumatoid arthritis, Sjögren's disease, fibromyalgia, polymyalgia rheumatica, gout or systemic lupus erythematosus. Coexistence of primary hyperparathyroidism with those pathologies potentiate their effects on muscles, bones and joints, increasing the risk of complications such as osteoporosis and fractures. Therefore, rheumatologists should be familiar with symptoms and diagnostic criteria of PHPT and consider it in the differential diagnosis of rheumatic diseases. In 2022 the Fifth International Workshop guidelines on the PHPT evaluation and management were published. They are based on a profound analysis of advances in research concerning multiple fields, that include genetics, outcomes and new imaging modalities of PHPT. They have led to revision of previous renal indications for parathyroidectomy in PHPT. There is also more evidence for the other recommendations regarding evaluation of the disease. This article summarizes the most relevant elements of these recommendations and refers them to Polish realities. I focus on the symptoms of primary hyperparathyroidism and its diagnosis as I consider these areas to be the most important for non-endocrinologists.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/af/2a/RU-61-170705.PMC10515122.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41150693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The perspective of Polish patients with rheumatoid arthritis - treatment expectations, patient-reported outcomes, and digital literacy (the SENSE study).","authors":"Marcin Stajszczyk, Grażyna Świerkowska, Katarzyna Smolik, Izabela Domysławska, Karol Charkiewicz, Włodzimierz Samborski","doi":"10.5114/reum/171625","DOIUrl":"https://doi.org/10.5114/reum/171625","url":null,"abstract":"<p><strong>Introduction: </strong>A widely accepted treat-to-target strategy for rheumatoid arthritis (RA) requires the patient's perspective in making treatment decisions. However, data on treatment preferences and expectations of Polish patients with RA are scarce. The aim of the study was to determine the satisfaction with treatment and the nature of therapeutic preferences and expectations of Polish patients with moderate to severe RA.</p><p><strong>Material and methods: </strong>Fifty-two adult Polish patients with moderately to highly active RA were asked to complete patient-reported outcomes and patient-provided information questionnaires. Additionally, patient sociodemographic and clinical data and information on patient current and planned treatment strategies were collected.</p><p><strong>Results: </strong>The mean global assessment of patient satisfaction with treatment was 64.1 ±24.6, below the level of indicating satisfaction. Rheumatoid arthritis negatively impacted patients' lives, resulting in a 37.8% impairment of work efficiency and 45% impairment of total activity. Primary treatment expectations for patients were lasting relief of RA symptoms, reduced pain and swelling in joints, increased flexibility of joints, and general improvement of arthritis. The most acceptable potential side effect was weight gain and the least acceptable were increases in the risk of cardiovascular disease, infection, and malignancies. The rapid onset of the drug effect (up to 1 week) was a preference of 48.1% of patients. Access to internet health resources was important for 44.2% of patients, but the median total eHealth literacy score in the study population was 24.0 (interquartile range: 20.5-28.0, range 8-37), which means low digital health literacy (DHL).</p><p><strong>Conclusions: </strong>Understanding these treatment preferences and expectations of patients with RA is essential for clinical practitioners to facilitate shared treatment decision-making. Digital health literacy data suggest the need of further improvement.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134649639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biological treatment in Felty's syndrome with profound neutropenia.","authors":"Krzysztof Proc,&nbsp;Marta Madej,&nbsp;Piotr Wiland,&nbsp;Agata Sebastian","doi":"10.5114/reum/167472","DOIUrl":"https://doi.org/10.5114/reum/167472","url":null,"abstract":"<p><p>A triad of symptoms characterises Felty's syndrome: seropositive rheumatoid arthritis (RA), splenomegaly and neutropenia. The treatment of Felty's syndrome is based on using classic synthetic and biological disease-modifying anti-rheumatic drugs (DMARDs). In this article, we present a case of a patient with Felty's syndrome who was treated with biologic treatment. A systematic search of the literature on the electronic medical database was conducted. The drugs from the DMARD group, despite reducing the activity of the disease, may cause significant clinical complications. It is important to know about the diagnosis, differentiation and treatment of neutropenia and the prevention of febrile neutropenia. The article discusses the current therapeutic possibilities using both classical and biologic DMARDs.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/18/9d/RU-61-167472.PMC10373170.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9913644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The dynamic relationship of gut microbiota with sex hormones in systemic lupus erythematosus.","authors":"Marcel Katrib,&nbsp;Rafi Haddad,&nbsp;Zahi Hamdan,&nbsp;Mohamad Ali Rida","doi":"10.5114/reum/163091","DOIUrl":"https://doi.org/10.5114/reum/163091","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease. The sex hormones estrogen and testosterone may have an influence on the production of antibodies. In addition, the gut microbiota also shows an effect on the onset and progression of SLE. Hence, the molecular interplay between sex hormones in terms of gender difference, gut microbiota and SLE is being clarified day after day. The aim of this review is to investigate the dynamic relationship of the gut microbiota with sex hormones in systemic lupus erythematosus taking into account the bacterial strains shown to be affected, effects of antibiotics and other factors that affect the gut microbiome, which itself strongly affects the pathogenesis of SLE.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/6d/RU-61-163091.PMC10201382.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9517168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skeletal complications in acromegaly.","authors":"Arnika Wydra,&nbsp;Maria Stelmachowska-Banaś,&nbsp;Izabella Czajka-Oraniec","doi":"10.5114/reum/169918","DOIUrl":"https://doi.org/10.5114/reum/169918","url":null,"abstract":"<p><p>Hypersecretion of growth hormone (GH) is rare and typically results from a pituitary functional tumor - somatotropinoma. It leads to excessive linear bone growth and manifests as gigantism if occurring in childhood and adolescence, before the closure of epiphyses or as a acromegaly in adulthood. The excess of GH impacts bone metabolism directly as well as indirectly through increased insulin-like growth factor 1 (IGF-1). In acromegaly as a consequence of overproduction of GH and IFG-1 and the influence of these hormones on bone osteoblasts, bone metabolism, growth and density increase. However, bone turnover is accelerated causing impaired bone microstructure and strength, which may lead to increased risk of vertebral fractures irrespective of normal bone mineral density. Apart from the changes in bone architecture, acromegaly also results in a degenerative joint disease of a different nature than primary osteoarthritis. Moreover, acromegaly leads to cardiovascular, metabolic and respiratory complications, and thus significantly impairs the quality of life. In this review, authors summarize the pathophysiology, diagnosis, and treatment of bone and joint disease in acromegaly.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/7d/RU-61-169918.PMC10515128.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41146884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}