journal
https://read.qxmd.com/read/39334496/rare-diseases-what-rheumatologists-need-to-know
#1
REVIEW
Renan Rodrigues Neves Ribeiro do Nascimento, Daniela Gerent Petry Piotto, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Flavio Roberto Sztajnbok, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Katia Tomie Kozu, Ivanio Alves Pereira, Valderilio Feijo Azevedo, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Marco Túlio Muniz Franco, Margarida de Fátima Fernandes Carvalho, Nilton Salles Rosa-Neto, Sandro Félix Perazzio
Although the terms "rare diseases" (RD) and "orphan diseases" (OD) are often used interchangeably, specific nuances in definitions should be noted to avoid misconception. RD are characterized by a low prevalence within the population, whereas OD are those inadequately recognized or even neglected by the medical community and drug companies. Despite their rarity, as our ability on discovering novel clinical phenotypes and improving diagnostic tools expand, RD will continue posing a real challenge for rheumatologists...
September 27, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39334491/ultrasound-nail-assessment-in-patients-with-psoriasic-arthritis-is-there-an-association-of-findings-with-clinical-scores
#2
JOURNAL ARTICLE
Andrieli Caroline Mehl, Leonardo Michaelis Schmidt, Valderílio Feijó Azevedo
BACKGROUND: Psoriatic arthritis can involve several domains. Due to its multifaceted nature and its frequent comorbidities such as depression, obesity, osteoarthritis and fibromyalgia, it is difficult to monitor these patients because the clinical scores involve subjective data. High-resolution ultrasound probes allowed the evaluation of more superficial structures, such as the nails and their synovio-entheseal framework, in close relationship with the enthesis of the distal extensor digitorum tendon...
September 27, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39334489/gout-comorbidities-results-from-the-korean-national-health-and-nutrition-examination-survey
#3
JOURNAL ARTICLE
Hyemin Jeong, Young-Soo Chang, Chan Hong Jeon
OBJECTIVES: Gout is associated with several comorbidities. This study aimed to evaluate the prevalence of comorbidities in the Korean adult population with gout and investigated the association of gout with these comorbidities. METHODS: Data from 15,935 (weighted n = 39,049,167) participants aged 19 years and older in the Korean National Health and Nutrition Examination Survey from 2019 to 2021 were used for analysis. Weighted prevalence and odds ratios (OR) of comorbidities in individuals with gout were compared to a non-gout population...
September 27, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39327586/brazilian-society-of-rheumatology-and-brazilian-society-of-clinical-pathology-laboratory-medicine-recommendation-for-serum-uric-acid-test-reports-on-patients-undergoing-treatment-for-gout
#4
LETTER
Geraldo da Rocha Castelar Pinheiro, Marco Antônio Araújo da Rocha Loures, Luís Eduardo Coelho Andrade, Fabiano de Almeida Brito, Leonardo de Souza Vasconcellos
No abstract text is available yet for this article.
September 26, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39300553/development-of-a-questionnaire-to-assess-the-patient-perspective-regarding-challenges-in-psoriatic-arthritis-treatment-a-mixed-methods-study
#5
JOURNAL ARTICLE
André Lucas Ribeiro, Júlia Andressa Tessari, Charles Lubianca Kohem, Penélope Esther Palominos, Rafael Mendonça da Silva Chakr
BACKGROUND: Limited data exist on psoriatic arthritis (PsA) treatment in lower-income regions, particularly from the patient perspective. This study explores the challenges faced by socioeconomically vulnerable PsA patients and the reasons for non-adherence to treatment guidelines. The main objective of the study is to develop a questionnaire to identify the primary challenges in PsA treatment adherence and to analyze its feasibility while simultaneously understanding the target population's unique characteristics...
September 19, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39285267/uncovering-the-knowledge-about-systemic-amyloidosis-relevant-to-the-rheumatologists
#6
REVIEW
Ivanio Alves Pereira, Nilton Salles Rosa Neto, Renan Rodrigues Neves Ribeiro do Nascimento, Eutilia Andrade Medeiros Freire, Fabricio de Souza Neves, Blanca Elena Rios Gomes Bica, Frederico Augusto Gurgel Pinheiro, Sandro Félix Perazzio, Rafael Alves Cordeiro, Henrique Ayres Mayrink Giardini, Valderilio Feijo Azevedo, Flavio Roberto Sztajnbok
Amyloidosis is a localized or systemic disease caused by deposition of proteins in the extracellular space of various organs and tissues. As part of the disease, proteins that were originally soluble misfold and acquire a fibrillar conformation that renders them insoluble and resistant to proteolysis. Systemic amyloidosis is a rare, often underdiagnosed condition. In recent years, the incidence of newly diagnosed cases of amyloidosis has been increasing in association with the aging of the population and greater access to diagnostic tests...
September 16, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39272166/anti-protein-phosphatase-magnesium-dependent-1a-igm-levels-in-patients-with-active-ankylosing-spondylitis-a-potential-biomarker
#7
JOURNAL ARTICLE
Yeo-Jin Lee, Eun-Ju Lee, Soo Min Ahn, Seokchan Hong, Ji Seon Oh, Chang-Keun Lee, Bin Yoo, Yong-Gil Kim
BACKGROUND: Ankylosing spondylitis (AS) has been known to have auto-inflammatory nature; hence, the efficacy of autoantibodies is low. However, studies on autoantibodies are ongoing, with some studies showing associations. Previous studies showed that anti-protein phosphatase magnesium-dependent 1A (PPM1A) IgG was increased in patients with AS and associated with radiographic progression. However, the diagnostic usefulness was limited due to relatively low sensitivity and specificity...
September 13, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39272122/tuberculin-skin-test-repetition-after-tnf-%C3%AE-inhibitors-in-patients-with-chronic-inflammatory-arthritis-a-long-term-retrospective-cohort-in-endemic-area
#8
JOURNAL ARTICLE
Vanessa de Oliveira Magalhães, Karina Rossi Bonfiglioli, Carina More Frade Gomes, Eloisa Bonfá, Ana Cristina de Medeiros-Ribeiro, Carla Gonçalves S Saad, Marcelo de Medeiros Pinheiro
OBJECTIVES: To evaluate the tuberculin skin test (TST) conversion in chronic inflammatory arthropathies (CIA) patients on TNFα inhibitors (TNFi) and without previous latent tuberculosis infection (LTBI) treatment. METHODS: Patients with rheumatoid arthritis (RA), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) with negative LTBI were retrospectively evaluated for TST conversion and active tuberculosis (TB) after six months of exposition to TNFi. Two groups were compared: patients who repeated TST (TST-repetition) during the follow-up and patients who did not (non-TST-repetition)...
September 13, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39256831/sacroiliac-and-spine-imaging-in-spondyloarthritis-does-phenotype-or-sex-matter
#9
JOURNAL ARTICLE
Gabriel Caetano Pereira, Natalia Pereira Machado, André Francisco Gomes, Rodrigo Luppino Assad, Fabio Henrique Carneiro, Valderílio Feijó Azevedo
BACKGROUND: Spondyloarthritis (SpA) encompasses a spectrum of immune-mediated inflammatory conditions primarily affecting the axial skeleton, including sacroiliitis and spondylitis, each with distinct features. This study aimed to investigate imaging disparities, focusing on sacroiliac magnetic resonance and spine radiography, across phenotypes and between males and females in axial SpA. METHOD: A cross-sectional study was conducted to assess clinical data, laboratory findings, magnetic resonance imaging (MRI) scores of sacroiliac joints using the Spondyloarthritis Research Consortium of Canada (SPARCC) and Sacroiliac Joint Structural Score (SSS), and cervical and lumbar spine radiographs utilizing the Modified Stoke Ankylosing Spondylitis Spine Score (mSASSS)...
September 10, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39252129/effect-of-fatigue-on-quality-of-life-in-patients-with-rheumatoid-arthritis-the-chain-mediating-role-of-resilience-and-self-efficacy
#10
JOURNAL ARTICLE
Jian Zhou, Xinxin Fan, Yuqin Gan, Zongting Luo, Hong Qi, Yuqiong Cao
OBJECTIVES: Exploring the effect of resilience and self-efficacy in mediating the chain between fatigue and quality of life(QOL) in patients with rheumatoid arthritis (RA). METHODS: From June 2022 to November 2022, 423 RA patients were chosen by a convenience sample method from two tertiary care facilities in Chengdu, Sichuan Province. General Information Questionnaire, Bristol Multidimensional Scale of Fatigue in Patients with Rheumatoid Arthritis, SF-12 Health Survey Short Form, Chinese version of the ten-item psychological Resilience Scale, and Chinese-language Arthritis Self-Efficacy Scale, an 8-element version, were among the questionnaires used...
September 9, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39252120/progranulin-mediates-the-onset-of-pristane-induced-systemic-lupus-erythematosus
#11
JOURNAL ARTICLE
Michun He, Aubryanna Hettinghouse, Yufei Bi, Yuehong Chen, Chuanju Liu
BACKGROUNDS: Progranulin (PGRN) is a growth factor-like molecule with diverse roles in homeostatic and pathogenic processes including the control of immune and inflammatory responses. Pathogenic inflammation is a hallmark of systemic lupus erythematosus (SLE) and elevated serum levels of PGRN has been evaluated as a biomarker of disease activity in SLE. However, the role of PGRN in SLE has not been fully investigated. This study is aimed to determine the potential involvements of PGRN in SLE...
September 9, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39215379/determining-the-accuracy-of-the-leukocyte-esterase-reagent-strip-test-in-the-rapid-diagnosis-of-adult-septic-arthritis
#12
JOURNAL ARTICLE
Peyman Mirghaderi, Mohammad-Taha Pahlevan-Fallahy, Jamil Mahmoudi, S M Javad Mortazavi
BACKGROUNDS: Septic arthritis is a dangerous disease that occurs when microorganisms enter synovial fluid. It needs fast and accurate management; otherwise, it can harm the patient's life. Currently, the tests measure WBC and PMN in SF, so we hypothesized to use a proxy that is easier and faster to measure. Leukocyte esterase is an enzyme secreted by neutrophils that can be found in the synovial fluid of SA patients. In this study, we tried to investigate the sensitivity and specificity of leukocyte esterase in diagnosing septic arthritis...
August 30, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39215374/the-influence-of-environmental-factors-related-to-juvenile-dermatomyositis-jdm-its-course-and-refractoriness-to-treatment
#13
JOURNAL ARTICLE
Clarissa C M Valões, Tamima M Arabi, Alfésio L F Braga, Lúcia M A Campos, Nádia E Aikawa, Kátia T Kozu, Clovis A Silva, Sylvia C L Farhat, Adriana M Elias
OBJECTIVE: To evaluate the influence of environmental factors and prematurity relating to juvenile dermatomyositis (JDM), its course and refractoriness to treatment. METHODS: A case-control study with 35 patients followed up at a tertiary hospital and 124 healthy controls, all residents of São Paulo. Patients were classified according to monocyclic, polycyclic or chronic disease courses and refractoriness to treatment. The daily concentrations of pollutants (inhalable particulate matter-PM10 , sulfur dioxide-SO2 , nitrogen dioxide-NO2 , ozone-O3 and carbon monoxide-CO) were provided by the Environmental Company of São Paulo...
August 30, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39187901/challenges-in-implementing-treat-to-target-in-rheumatoid-arthritis-a-perspective-from-brazilian-rheumatologists
#14
JOURNAL ARTICLE
Adriana Maria Kakehasi, Angela Luzia Branco Pinto Duarte, Claiton Viegas Brenol, Diogo Souza Domiciano, Ieda Maria Magalhães Laurindo, Karina Rossi Bonfiglioli, Licia Maria Henrique da Mota, Maya H Buch, Eduardo de Almeida Macêdo, Ricardo Machado Xavier
BACKGROUND: Patient management in rheumatoid arthritis (RA) has evolved to a "treat-to-target" (T2T) approach, which entails intensive treatment and regular follow-up with the goal of achieving low levels of disease activity or clinical remission. Even though a T2T approach is endorsed by professional organizations and yields superior outcomes, its implementation remains incomplete. EVEREST (EleVatE care in RhEumatoid arthritiS with Treat-to-target) is a quality-improvement initiative designed to improve the widespread implementation of a personalized T2T strategy and enable patients with RA to reach their full potential for remission...
August 26, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39175060/inflammatory-turmoil-within-an-exploration-of-autoinflammatory-disease-genetic-underpinnings-clinical-presentations-and-therapeutic-approaches
#15
REVIEW
Kátia Tomie Kozu, Renan Rodrigues Neves Ribeiro do Nascimento, Patrícia Pontes Aires, Rafael Alves Cordeiro, Thais Costa Lima de Moura, Flavio Roberto Sztajnbok, Ivanio Alves Pereira, Adriana Almeida de Jesus, Sandro Félix Perazzio
Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders, encompassing a diverse array of genetic defects classified as inborn errors of immunity, are significant diagnostic challenges due to their genetic heterogeneity and varied clinical presentations. Although recent advances in genetic sequencing have facilitated pathogenic gene discovery, approximately 40% of SAIDs patients lack molecular diagnoses. SAIDs have distinct clinical phenotypes, and targeted therapeutic approaches are needed...
August 22, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39169436/targeting-bruton-s-tyrosine-kinase-btk-as-a-signaling-pathway-in-immune-mediated-diseases-from-molecular-mechanisms-to-leading-treatments
#16
REVIEW
Gita Manzari Tavakoli, Niloufar Yazdanpanah, Nima Rezaei
Bruton's tyrosine kinase (BTK), a nonreceptor tyrosine kinase, plays a remarkable role in the transmission and amplification of extracellular signals to intracellular signaling pathways. Various types of cells use the BTK pathway to communicate, including hematopoietic cells particularly B cells and T cells. The BTK pathway plays a role in controlling the proliferation, survival, and functions of B cells as well as other myeloid cells. First, second, and third-generation BTK inhibitors are currently being evaluated for the treatment of immune-mediated diseases in addition to B cell malignancies...
August 21, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39160602/brazilian-version-of-the-primary-sj%C3%A3-gren-s-syndrome-quality-of-life-questionnaire-pss-qol-translation-cross-cultural-adaptation-and-validation
#17
JOURNAL ARTICLE
Samira Tatiyama Miyamoto, Érica Vieira Serrano, Ana Paula Espíndula Gianórdoli, Lara Betini Altoé, Bianca Domingos Noronha, Pedro Henrique Alves Dos Santos, Ana Paula Truhlar Pedrini, Nicole Reis Souza da Silva, Letícia Fonseca Favarato, Luíza Vallory Alochio, Weider Andrade Tomé, Angelika Lackner, Valéria Valim
BACKGROUND: The Primary Sjögren's Syndrome Quality of Life questionnaire (PSS-QoL) is the first specific instrument to assess health-related quality of life (HRQoL) in Sjögren's disease (SjD). The aim is to translate and cross-culturally adapt the PSS-QoL into Brazilian Portuguese and to evaluate its psychometric properties. METHODS: The original English version was translated into Brazilian Portuguese by two native Brazilians who were proficient in the English language...
August 19, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39143637/principles-of-clinical-genetics-for-rheumatologists-clinical-indications-and-interpretation-of-broad-based-genetic-testing
#18
REVIEW
Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology...
August 14, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39135190/sarcoidosis-a-general-overview
#19
REVIEW
Fabricio Souza Neves, Ivanio Alves Pereira, Flavio Sztajnbok, Nilton Salles Rosa Neto
Sarcoidosis is a systemic inflammatory disease of unknown origin, which consists of the formation of multiple sterile noncaseating granulomas. Inhaled antigens are believed to initiate disease in prone individuals, considering that almost all patients present pulmonary or mediastinal lymph node disease. Extrapulmonary manifestations are common and diverse: practically any organ system can be affected, and treatment can range from simple watchful waiting to intense immunosuppression. In this article, we review current concepts about sarcoidosis in an overview, focusing on recognition and treatment of its major clinical phenotypes...
August 12, 2024: Advances in Rheumatology
https://read.qxmd.com/read/39135131/safety-of-coronavac-and-chadox1-vaccines-against-sars-cov-2-in-patients-with-rheumatoid-arthritis-data-from-the-brazilian-multicentric-study-safer
#20
MULTICENTER STUDY
Vitor Alves Cruz, Camila Guimarães, Jozelia Rêgo, Ketty Lysie Libardi Lira Machado, Samira Tatiyama Miyamoto, Ana Paula Neves Burian, Laiza Hombre Dias, Flavia Zon Pretti, Danielle Cristina Filgueira Alves Batista, José Geraldo Mill, Yasmin Gurtler Pinheiro de Oliveira, Carolina Strauss Estevez Gadelha, Maria da Penha Gomes Gouveia, Anna Carolina Simões Moulin, Bárbara Oliveira Souza, Laura Gonçalves Rodrigues Aguiar, Gabriel Smith Sobral Vieira, Luiza Lorenzoni Grillo, Marina Deorce de Lima, Laís Pizzol Pasti, Heitor Filipe Surlo, Filipe Faé, Isac Ribeiro Moulaz, Mariana de Oliveira Macabú, Priscila Dias Cardoso Ribeiro, Vanessa de Oliveira Magalhães, Mariana Freitas de Aguiar, Erika Biegelmeyer, Flávia Maria Matos Melo Campos Peixoto, Cristiane Kayser, Alexandre Wagner Silva de Souza, Charlles Heldan de Moura Castro, Sandra Lúcia Euzébio Ribeiro, Camila Maria Paiva França Telles, Juliana Bühring, Raquel Lima de Lima, Sérgio Henrique Oliveira Dos Santos, Samuel Elias Basualto Dias, Natália Seixas de Melo, Rosely Holanda da Silva Sanches, Antonio Luiz Boechat, Natália Sarzi Sartori, Vanessa Hax, Lucas Denardi Dória, Rodrigo Poubel Vieira de Rezende, Katia Lino Baptista, Natália Rodrigues Querido Fortes, Ana Karla Guedes de Melo, Tâmara Santos Melo, Rejane Maria Rodrigues de Abreu Vieira, Adah Sophia Rodrigues Vieira, Adriana Maria Kakehasi, Anna Carolina Faria Moreira Gomes Tavares, Aline Teixeira de Landa, Pollyana Vitoria Thomaz da Costa, Valderilio Feijó Azevedo, Olindo Assis Martins-Filho, Vanessa Peruhype-Magalhães, Marcelo de Medeiros Pinheiro, Odirlei André Monticielo, Edgard Torres Dos Reis-Neto, Gilda Aparecida Ferreira, Viviane Angelina de Souza, Andréa Teixeira-Carvalho, Ricardo Machado Xavier, Emilia Inoue Sato, Valeria Valim, Gecilmara Salviato Pileggi, Nilzio Antonio da Silva
BACKGROUND: Patients with immune-mediated rheumatic diseases (IMRDs) have been prioritized for COVID-19 vaccination to mitigate the infection severity risks. Patients with rheumatoid arthritis (RA) are at a high risk of severe COVID-19 outcomes, especially those under immunosuppression or with associated comorbidities. However, few studies have assessed the safety of the COVID-19 vaccine in patients with RA. OBJECTIVE: To evaluate the safety of vaccines against SARS-CoV-2 in patients with RA...
August 12, 2024: Advances in Rheumatology
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