Pub Date : 2025-01-25DOI: 10.1016/j.berh.2025.102035
Jiayang Jin, Xuanlin Cai, Peishi Rao, Jun Xu, Jing Li
Rheumatoid arthritis (RA) is a complex autoimmune disease with growing evidence implicating the microbiota as a critical contributor to its pathogenesis. This review explores the multifaceted roles of microbial dysbiosis in RA, emphasizing its impact on immune cell modulation, autoantibody production, gut barrier integrity, and joint inflammation. Animal models reveal how genetic predisposition and environmental factors interact with specific microbial taxa to influence disease susceptibility. Dysbiosis-driven metabolic disruptions, including alterations in short-chain fatty acids and bile acids, further exacerbate immune dysregulation and systemic inflammation. Emerging therapeutic strategies-probiotics, microbial metabolites, fecal microbiota transplantation, and antibiotics-offer innovative avenues for restoring microbial balance and mitigating disease progression. By integrating microbiota-targeted approaches with existing treatments, this review highlights the potential to revolutionize RA management through precision medicine and underscores the need for further research to harness the microbiota's therapeutic potential.
{"title":"Microbiota and immune dynamics in rheumatoid arthritis: Mechanisms and therapeutic potential.","authors":"Jiayang Jin, Xuanlin Cai, Peishi Rao, Jun Xu, Jing Li","doi":"10.1016/j.berh.2025.102035","DOIUrl":"https://doi.org/10.1016/j.berh.2025.102035","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a complex autoimmune disease with growing evidence implicating the microbiota as a critical contributor to its pathogenesis. This review explores the multifaceted roles of microbial dysbiosis in RA, emphasizing its impact on immune cell modulation, autoantibody production, gut barrier integrity, and joint inflammation. Animal models reveal how genetic predisposition and environmental factors interact with specific microbial taxa to influence disease susceptibility. Dysbiosis-driven metabolic disruptions, including alterations in short-chain fatty acids and bile acids, further exacerbate immune dysregulation and systemic inflammation. Emerging therapeutic strategies-probiotics, microbial metabolites, fecal microbiota transplantation, and antibiotics-offer innovative avenues for restoring microbial balance and mitigating disease progression. By integrating microbiota-targeted approaches with existing treatments, this review highlights the potential to revolutionize RA management through precision medicine and underscores the need for further research to harness the microbiota's therapeutic potential.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"102035"},"PeriodicalIF":4.5,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143043266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-18DOI: 10.1016/j.berh.2025.102034
Hu Li, Hao Liu, Boyang Wang, Ninggang Liang, Moxuan Wu, Xuan Qi, Houshan Lu
<p><p>The past several decades have seen significant advancements in joint replacement surgery for rheumatoid arthritis (RA). Joint replacement procedures have become vital options for patients with severe joint damage and functional impairment. There has been an increased emphasis on personalized surgical strategies that tailor joint replacement decisions based on a patient's unique clinical characteristics and the extent of joint damage. Achieving personalized outcomes requires clearly understanding the patient's baseline joint function and comparative data on different prosthetic designs and techniques. Comprehensive preoperative preparation is fundamental to ensuring surgical success. This includes thoroughly evaluating the patient's medication history, the extent of joint damage, and overall systemic health. Despite careful surgical planning, trade-offs between different replacement options often remain. In this paper, we review the perioperative preparation and surgical techniques in joint replacement surgery for RA. Additionally, we discuss the challenges in optimizing postoperative rehabilitation and preventing complications, which remains a key factor in achieving full recovery and maximizing the benefits of joint replacement surgery for RA patients. The pathological basis of RA is an acute or chronic inflammation of the synovial membrane. As a result, synovial joints throughout the body can be affected, including joints in the upper limbs (shoulders, elbows, wrists, metacarpophalangeal joints, and interphalangeal joints) as well as in the lower limbs (hips, knees, and ankles). If drug treatments fail to control inflammation adequately, recurrent synovitis in the affected joints can lead to swelling, effusion, cartilage erosion, and eventual cartilage loss. Due to decreased weight-bearing, along with the use of various medications-particularly glucocorticoids-widespread subchondral bone osteoporosis, bone marrow edema, and bone destruction may occur, leading to cystic degeneration and even extensive bone defects. In the advanced stages of RA, deformities can develop, such as "boutonniere" and "swan-neck" deformities in the fingers, ulnar deviation of the wrist, "otto pelvic" due to central acetabular erosion and dislocation of the hip, varus or valgus deformities of the knee, flexion contractures, and destruction or fusion of the ankle joint. The foot can also present deformities, such as hallux valgus and overlapping toes. Total joint replacement surgery has become the most effective surgical treatment for severe joint destruction and deformities in late-stage RA. Among all joints, the hip and knee are the most frequently replaced, as their dysfunction severely impacts the patient's ability to walk, leading to disability and loss of mobility. In this review, we provided a comprehensive discussion on the perioperative management of patients with RA, focusing on preoperative preparation, intraoperative planning, and postoperative rehabili
{"title":"Joint replacement for rheumatoid arthritis: When, why, and how! Insights from an orthopedic surgeon.","authors":"Hu Li, Hao Liu, Boyang Wang, Ninggang Liang, Moxuan Wu, Xuan Qi, Houshan Lu","doi":"10.1016/j.berh.2025.102034","DOIUrl":"https://doi.org/10.1016/j.berh.2025.102034","url":null,"abstract":"<p><p>The past several decades have seen significant advancements in joint replacement surgery for rheumatoid arthritis (RA). Joint replacement procedures have become vital options for patients with severe joint damage and functional impairment. There has been an increased emphasis on personalized surgical strategies that tailor joint replacement decisions based on a patient's unique clinical characteristics and the extent of joint damage. Achieving personalized outcomes requires clearly understanding the patient's baseline joint function and comparative data on different prosthetic designs and techniques. Comprehensive preoperative preparation is fundamental to ensuring surgical success. This includes thoroughly evaluating the patient's medication history, the extent of joint damage, and overall systemic health. Despite careful surgical planning, trade-offs between different replacement options often remain. In this paper, we review the perioperative preparation and surgical techniques in joint replacement surgery for RA. Additionally, we discuss the challenges in optimizing postoperative rehabilitation and preventing complications, which remains a key factor in achieving full recovery and maximizing the benefits of joint replacement surgery for RA patients. The pathological basis of RA is an acute or chronic inflammation of the synovial membrane. As a result, synovial joints throughout the body can be affected, including joints in the upper limbs (shoulders, elbows, wrists, metacarpophalangeal joints, and interphalangeal joints) as well as in the lower limbs (hips, knees, and ankles). If drug treatments fail to control inflammation adequately, recurrent synovitis in the affected joints can lead to swelling, effusion, cartilage erosion, and eventual cartilage loss. Due to decreased weight-bearing, along with the use of various medications-particularly glucocorticoids-widespread subchondral bone osteoporosis, bone marrow edema, and bone destruction may occur, leading to cystic degeneration and even extensive bone defects. In the advanced stages of RA, deformities can develop, such as \"boutonniere\" and \"swan-neck\" deformities in the fingers, ulnar deviation of the wrist, \"otto pelvic\" due to central acetabular erosion and dislocation of the hip, varus or valgus deformities of the knee, flexion contractures, and destruction or fusion of the ankle joint. The foot can also present deformities, such as hallux valgus and overlapping toes. Total joint replacement surgery has become the most effective surgical treatment for severe joint destruction and deformities in late-stage RA. Among all joints, the hip and knee are the most frequently replaced, as their dysfunction severely impacts the patient's ability to walk, leading to disability and loss of mobility. In this review, we provided a comprehensive discussion on the perioperative management of patients with RA, focusing on preoperative preparation, intraoperative planning, and postoperative rehabili","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"102034"},"PeriodicalIF":4.5,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-16DOI: 10.1016/j.berh.2025.102033
Parul Gupta, Suyesh Shrivastava, Ravindra Kumar
Sickle cell disease (SCD) is a mono-genic disorder causing chronic hemolysis, anemia, and vaso-occlusion, leading to musculoskeletal complications such as osteonecrosis, osteoporosis, and bone fractures affecting 50-70% SCD patients. These complications result from a complex interplay of genetic and physiological factors, including abnormal hemoglobin production, chronic inflammation, and oxidative stress. This review discusses the pathophysiology, pre-clinical symptoms, and clinical manifestations of musculoskeletal complications in SCD, as well as current treatment options, including pharmacological interventions, surgical procedures, and bone marrow transplantation. Early detection of pre-clinical symptoms is crucial to prevent progression. Pharmacological interventions (analgesics, anti-inflammatory agents, bone-modifying agents and hydroxyurea), surgical interventions (core decompression, bone grafting, joint replacement and osteotomy) and supportive measures enhance mobility, strength and well-being. A multidisciplinary approach is essential for optimal care, and early diagnosis and management are crucial to prevent long-term damage and improve outcomes. Future research directions include targeted therapies, biomarker investigation and infrastructure development to improve outcomes for SCD individuals with musculoskeletal complications.
{"title":"Musculoskeletal complications in sickle cell disease: Pathophysiology, diagnosis and management.","authors":"Parul Gupta, Suyesh Shrivastava, Ravindra Kumar","doi":"10.1016/j.berh.2025.102033","DOIUrl":"https://doi.org/10.1016/j.berh.2025.102033","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a mono-genic disorder causing chronic hemolysis, anemia, and vaso-occlusion, leading to musculoskeletal complications such as osteonecrosis, osteoporosis, and bone fractures affecting 50-70% SCD patients. These complications result from a complex interplay of genetic and physiological factors, including abnormal hemoglobin production, chronic inflammation, and oxidative stress. This review discusses the pathophysiology, pre-clinical symptoms, and clinical manifestations of musculoskeletal complications in SCD, as well as current treatment options, including pharmacological interventions, surgical procedures, and bone marrow transplantation. Early detection of pre-clinical symptoms is crucial to prevent progression. Pharmacological interventions (analgesics, anti-inflammatory agents, bone-modifying agents and hydroxyurea), surgical interventions (core decompression, bone grafting, joint replacement and osteotomy) and supportive measures enhance mobility, strength and well-being. A multidisciplinary approach is essential for optimal care, and early diagnosis and management are crucial to prevent long-term damage and improve outcomes. Future research directions include targeted therapies, biomarker investigation and infrastructure development to improve outcomes for SCD individuals with musculoskeletal complications.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"102033"},"PeriodicalIF":4.5,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-31DOI: 10.1016/j.berh.2024.102032
Nur Azizah Allameen, Yi Wye Lai, Guojie Lian, Tyrik Zhen-Yuan Lee, Saranya Selvakumaran, Rachel Yuet Teng Tan, Chuanhui Xu
Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disease affecting a significant portion of the global population. Despite advancements in pharmacological treatments, the management of RA remains complex, particularly in regard to comorbidities such as cardiovascular disease and osteoporosis. Physiotherapy (PT) and occupational therapy (OT) are non-pharmacological approaches that play a critical role in the management of RA. This review explores the impact of PT and OT in improving joint function, reducing pain and fatigue, and enhancing the overall quality of life in RA patients. It also addresses the role of these therapies in managing RA-related comorbidities, with an emphasis on exercise therapy, manual techniques, patient education and emerging digital interventions. Evidence supports the inclusion of tailored exercise regimens, such as cardiorespiratory training, resistance exercises and neuromotor activities, as vital components of RA management. By incorporating PT and OT, healthcare providers can better address the multifaceted needs of RA patients, complementing pharmacological treatments and improving long-term outcomes.
{"title":"Physiotherapy and occupational therapy in rheumatoid arthritis: Bridging functional and comorbidity gaps.","authors":"Nur Azizah Allameen, Yi Wye Lai, Guojie Lian, Tyrik Zhen-Yuan Lee, Saranya Selvakumaran, Rachel Yuet Teng Tan, Chuanhui Xu","doi":"10.1016/j.berh.2024.102032","DOIUrl":"https://doi.org/10.1016/j.berh.2024.102032","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disease affecting a significant portion of the global population. Despite advancements in pharmacological treatments, the management of RA remains complex, particularly in regard to comorbidities such as cardiovascular disease and osteoporosis. Physiotherapy (PT) and occupational therapy (OT) are non-pharmacological approaches that play a critical role in the management of RA. This review explores the impact of PT and OT in improving joint function, reducing pain and fatigue, and enhancing the overall quality of life in RA patients. It also addresses the role of these therapies in managing RA-related comorbidities, with an emphasis on exercise therapy, manual techniques, patient education and emerging digital interventions. Evidence supports the inclusion of tailored exercise regimens, such as cardiorespiratory training, resistance exercises and neuromotor activities, as vital components of RA management. By incorporating PT and OT, healthcare providers can better address the multifaceted needs of RA patients, complementing pharmacological treatments and improving long-term outcomes.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"102032"},"PeriodicalIF":4.5,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-24DOI: 10.1016/j.berh.2024.102030
Tong Wu, Yanhong Li, Yi Liu, Cong-Qiu Chu
Rheumatoid arthritis (RA) is a chronic autoimmune disorder with a complex pathogenesis that evolves through various stages before clinical symptoms emerge. This review outlines the natural history of RA, starting from genetic predisposition and environmental triggers to preclinical autoimmunity and subsequent joint inflammation. Key genetic factors interact with environmental elements like smoking and infections, producing autoantibodies such as anti-citrullinated protein antibodies (ACPA) and rheumatoid factor, which precede clinical manifestations by several years. The preclinical phases offer critical opportunities for intervention aiming at halting disease progression. Preventive strategies including lifestyle modifications, dietary interventions, and targeted immune modulation may halt the progression to clinical RA in those at-risk individuals.
{"title":"Preclinical RA: How to halt its progression.","authors":"Tong Wu, Yanhong Li, Yi Liu, Cong-Qiu Chu","doi":"10.1016/j.berh.2024.102030","DOIUrl":"https://doi.org/10.1016/j.berh.2024.102030","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a chronic autoimmune disorder with a complex pathogenesis that evolves through various stages before clinical symptoms emerge. This review outlines the natural history of RA, starting from genetic predisposition and environmental triggers to preclinical autoimmunity and subsequent joint inflammation. Key genetic factors interact with environmental elements like smoking and infections, producing autoantibodies such as anti-citrullinated protein antibodies (ACPA) and rheumatoid factor, which precede clinical manifestations by several years. The preclinical phases offer critical opportunities for intervention aiming at halting disease progression. Preventive strategies including lifestyle modifications, dietary interventions, and targeted immune modulation may halt the progression to clinical RA in those at-risk individuals.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"102030"},"PeriodicalIF":4.5,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rheumatic diseases (RDs) are characterized by autoimmunity and autoinflammation and are recognized as complex due to the interplay of multiple genetic, environmental, and lifestyle factors in their pathogenesis. The rapid advancement of genome-wide association studies (GWASs) has enabled the identification of numerous single nucleotide polymorphisms (SNPs) associated with RD susceptibility. Based on these SNPs, polygenic risk scores (PRSs) have emerged as promising tools for quantifying genetic risk in this disease group. This chapter reviews the current status of PRSs in assessing the risk of RDs and discusses their potential to improve the accuracy of the diagnosis of these complex diseases through their ability to discriminate among different RDs. PRSs demonstrate a high discriminatory capacity for various RDs and show potential clinical utility. As GWASs continue to evolve, PRSs are expected to enable more precise risk stratification by integrating genetic, environmental, and lifestyle factors, thereby refining individual risk predictions and advancing disease management strategies.
{"title":"Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases","authors":"Lucía Santiago-Lamelas , Raquel Dos Santos-Sobrín , Ángel Carracedo , Patricia Castro-Santos , Roberto Díaz-Peña","doi":"10.1016/j.berh.2024.101973","DOIUrl":"10.1016/j.berh.2024.101973","url":null,"abstract":"<div><div><span>Rheumatic diseases (RDs) are characterized by autoimmunity and autoinflammation and are recognized as complex due to the interplay of multiple </span>genetic<span>, environmental, and lifestyle factors in their pathogenesis. The rapid advancement of genome-wide association studies (GWASs) has enabled the identification of numerous single nucleotide polymorphisms<span> (SNPs) associated with RD susceptibility. Based on these SNPs, polygenic risk scores (PRSs) have emerged as promising tools for quantifying genetic risk in this disease group. This chapter reviews the current status of PRSs in assessing the risk of RDs and discusses their potential to improve the accuracy of the diagnosis of these complex diseases through their ability to discriminate among different RDs. PRSs demonstrate a high discriminatory capacity for various RDs and show potential clinical utility. As GWASs continue to evolve, PRSs are expected to enable more precise risk stratification by integrating genetic, environmental, and lifestyle factors, thereby refining individual risk predictions and advancing disease management strategies.</span></span></div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 4","pages":"Article 101973"},"PeriodicalIF":4.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.berh.2024.101968
Seema D. Sharma , Shek H. Leung , Sebastien Viatte
In the past four decades, a plethora of genetic association studies have been carried out in cohorts of patients with rheumatoid arthritis. These studies have highlighted key aspects of disease pathogenesis and suggested causal mechanisms. In this review, we discuss major advances in our understanding of the genetic architecture of rheumatoid arthritis susceptibility, severity and treatment response and explain how genetics supports current models of disease pathogenesis and outcome. We outline future research directions, like Mendelian randomisation, and present a number of potential avenues for clinical translation, including risk and outcome prediction, patient stratification into treatment response groups and pharmacological applications.
{"title":"Genetics of rheumatoid arthritis","authors":"Seema D. Sharma , Shek H. Leung , Sebastien Viatte","doi":"10.1016/j.berh.2024.101968","DOIUrl":"10.1016/j.berh.2024.101968","url":null,"abstract":"<div><div>In the past four decades, a plethora of genetic association studies have been carried out in cohorts of patients with rheumatoid arthritis. These studies have highlighted key aspects of disease pathogenesis and suggested causal mechanisms. In this review, we discuss major advances in our understanding of the genetic architecture of rheumatoid arthritis susceptibility, severity and treatment response and explain how genetics supports current models of disease pathogenesis and outcome. We outline future research directions, like Mendelian randomisation, and present a number of potential avenues for clinical translation, including risk and outcome prediction, patient stratification into treatment response groups and pharmacological applications.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 4","pages":"Article 101968"},"PeriodicalIF":4.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.berh.2024.101981
Ali El-Halwagi, Sandeep K. Agarwal
Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.
{"title":"Insights into the genetic landscape of systemic sclerosis","authors":"Ali El-Halwagi, Sandeep K. Agarwal","doi":"10.1016/j.berh.2024.101981","DOIUrl":"10.1016/j.berh.2024.101981","url":null,"abstract":"<div><div>Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 4","pages":"Article 101981"},"PeriodicalIF":4.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.berh.2024.102005
Anne Barton, Proton Rahman
{"title":"Preface to genomics of rheumatic disease","authors":"Anne Barton, Proton Rahman","doi":"10.1016/j.berh.2024.102005","DOIUrl":"10.1016/j.berh.2024.102005","url":null,"abstract":"","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 4","pages":"Article 102005"},"PeriodicalIF":4.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01DOI: 10.1016/j.berh.2024.101974
Mohamed H. Babiker-Mohamed , Sambhawana Bhandari , Prabha Ranganathan
Rheumatoid arthritis (RA) is a systemic autoimmune inflammatory arthritis. Despite many treatment advances, achieving remission or low-disease activity in RA remains challenging, often requiring trial and error approaches with numerous medications. Precision medicine, particularly pharmacogenomics, explores how genetic factors influence drug response in individual patients, and incorporates such factors to develop personalized treatments for individual patients. Genetic variations in drug-metabolizing enzymes, transporters, and targets may contribute to inter-individual differences in drug efficacy and toxicity. Advancements in molecular sequencing have allowed rapid identification of such variants, including single nucleotide polymorphisms (SNPs). This review highlights recent major findings in the pharmacogenetics of therapies in RA, focusing on key genes and SNPs to provide insights into current trends and developments in this field.
{"title":"Pharmacogenetics of therapies in rheumatoid arthritis: An update","authors":"Mohamed H. Babiker-Mohamed , Sambhawana Bhandari , Prabha Ranganathan","doi":"10.1016/j.berh.2024.101974","DOIUrl":"10.1016/j.berh.2024.101974","url":null,"abstract":"<div><div>Rheumatoid arthritis (RA) is a systemic autoimmune inflammatory arthritis. Despite many treatment advances, achieving remission or low-disease activity in RA remains challenging, often requiring trial and error approaches with numerous medications. Precision medicine, particularly pharmacogenomics, explores how genetic factors influence drug response in individual patients, and incorporates such factors to develop personalized treatments for individual patients. Genetic variations in drug-metabolizing enzymes, transporters, and targets may contribute to inter-individual differences in drug efficacy and toxicity. Advancements in molecular sequencing have allowed rapid identification of such variants, including single nucleotide polymorphisms (SNPs). This review highlights recent major findings in the pharmacogenetics of therapies in RA, focusing on key genes and SNPs to provide insights into current trends and developments in this field.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 4","pages":"Article 101974"},"PeriodicalIF":4.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141735577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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