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Epidemiology, genetics and economic burden of rheumatoid arthritis

Epidemiology, genetics and economic burden of rheumatoid arthritis  

Matthew Brown and Maarten Boers

in Rheumatoid Arthritis (Oxford Rheumatology Library)

Print Publication Year: 
Feb 2010
Series: 
Oxford Medical Libraries, Oxford Rheumatology Library
Published Online: 
May 2011
eISBN: 
9780191740213
DOI: 
10.1093/med/9780199556755.003.0001
Career: 
Nurse, Qualified Nurse, Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199556755
factors and RA The substantial non-heritable fraction of the risk of developing RA indicates that there must be major environmental factors involved in the disease onset. Unlike genetics , which is a finite (if massive) area of research, there are no obvious limits as to the type or mechanism underlying environmental factors potentially involved in RA susceptibility. There are several infectious conditions (typically self limiting viral arthropathies such as parvovirus and chronic hepatitis B infection) that mimic RA , suggesting a potential viral aetiology for RA itself
Genetics of rheumatoid arthritis

Genetics of rheumatoid arthritis  

Steve Eyre, Jane Worthington, and Sebastien Viatte

in Oxford Textbook of Rheumatology (4 ed.)

Print Publication Year: 
Oct 2013
Series: 
Oxford Textbooks
Published Online: 
Oct 2016
eISBN: 
9780191757730
DOI: 
10.1093/med/9780199642489.003.0040_update_003
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199642489
implicated in the susceptibility to RA , may also be involved in how well a patient responds to treatment. Well-powered GWAS, similar to the studies performed for susceptibility loci, will be needed to determine whether any novel loci are associated with response to treatment, in terms of disease outcome or adverse side effects. Genetic profiling of a patient at presentation in order to determine their probable disease course and make informed choices about the treatments is a goal for the future. What Genetics has taught us about RA and where to now GWAS have
Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies

Genetics and Genomics of Chronic Inflammatory Disorders, II: Rheumatoid Arthritis and Related Arthropathies  

Kate McAllister and Stephen Eyre

in Genomic Medicine: Principles and Practice (2 ed.)

Print Publication Year: 
Sep 2014
Series: 
Other
Published Online: 
Feb 2015
eISBN: 
9780199398096
DOI: 
10.1093/med/9780199896028.003.0029
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
chapter
ISBN: 
9780199896028
Other than these examples, there is relatively little consistent evidence that shows unusually high or low RA -prevalence rates between different ethnic groups. It remains difficult to make accurate comparisons of RA prevalence because of different case-ascertainment criteria and assessment methodologies. Adoption of more standardized methods would make data assessment of the prevalence and incidence of RA more reliable. Genetics of Rheumatoid Arthritis RA is a classic example of a complex disease with a genetic component characterized by incomplete penetrance
Rheumatoid arthritis

Rheumatoid arthritis  

Sandeep Bawa and Paul Wordsworth

in Oxford Textbook of Trauma and Orthopaedics (2 ed.)

Print Publication Year: 
Aug 2011
Series: 
Oxford Textbooks
Published Online: 
Apr 2011
eISBN: 
9780199608249
DOI: 
10.1093/med/9780199550647.003.010002
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Surgery, Trauma and Orthopaedic Surgery, Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199550647
uncommon in mush of rural sub-Saharan Africa. The risk of RA is increased by smoking and furthermore cessation from smoking is associated with improvements in disease activity. Genetics Identical co-twins of individuals with RA are three to four times more likely to be concordant for the disease than non-identical twins although overall concordance is still relatively low at around 15%. Non-twin siblings have a sixfold increased risk of RA compared to the general population and it has been estimated that heritability of RA is around 55%. Genetic susceptibility is complex and
Genetics of juvenile rheumatic diseases

Genetics of juvenile rheumatic diseases  

Anne Hinks and Wendy Thomson

in Oxford Textbook of Rheumatology (4 ed.)

Print Publication Year: 
Oct 2013
Series: 
Oxford Textbooks
Published Online: 
Mar 2018
eISBN: 
9780191757730
DOI: 
10.1093/med/9780199642489.003.0043_update_003
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199642489
RF-positive polyarthritis subtype showed the same main HLA association as seropositive rheumatoid arthritis ( RA ), but interestingly, the oligoarthritis and RF-negative polyarthritis showed the same HLA association as seronegative RA . This mapping of subtypes to adult diseases is a novel finding and may lead to a shared understanding of disease pathogenesis for these subtypes. 8 Non-HLA associations Association analysis (see Chapter Chapter 37 Basics of genetics 37 ) is now the main approach used in the search for non-HLA genetic susceptibility risk factors for
Rheumatology

Rheumatology  

Neil Herring and Robert Wilkins

in Basic Science for Core Medical Training and the MRCP

Print Publication Year: 
Oct 2015
Series: 
Oxford Specialty Training, Oxford Specialty Training: Basic Sciences
Published Online: 
Jan 2016
eISBN: 
9780191779411
DOI: 
10.1093/med/9780199599677.003.0009
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Preclinical Medicine
Item type: 
chapter
ISBN: 
9780199599677
for the development of RA is smoking, especially in genetically susceptible individuals. Moreover, patients who continue to smoke have a worse prognosis and are less likely to respond to therapy. In addition, RA is now an established risk factor (independent of smoking) for atherosclerotic cardiovascular disease due to the chronic inflammatory state. Cardiovascular disease is the main cause of early mortality in RA . See Table 9.3 for a summary of risk factors and prognosis in RA . Table 9.3 Risk factors and marker of prognosis in RA Markers
Putting cancer genetics into context

Putting cancer genetics into context  

Chris Jacobs

in Genetics for Health Professionals in Cancer Care: From Principles to Practice

Print Publication Year: 
Aug 2014
Series: 
Other
Published Online: 
Oct 2014
eISBN: 
9780191784200
DOI: 
10.1093/med/9780199672844.003.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Qualified, late specialism training, Nurse, Qualified Nurse
Specialty: 
Radiology, Clinical Oncology, Clinical Medicine, Clinical Genetics
Item type: 
chapter
ISBN: 
9780199672844
matter? An observational study. Int J Gynecol Cancer 22 : 254–259. Metcalfe A , Pumphrey R , Clifford C 2010. Hospice nurses and genetics : implications for end-of-life care. J Clin Nurs 19 : 192–207. Meyer LA , Anderson ME , Lacour RA , et al. 2010. Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities. Obstet Gynecol 115 : 945–952. Plon SE 2011. Unifying cancer genetics . Genet Med 13 : 203–204. Rahman N 2014. Realizing the promise of cancer predisposition genes. Nature 505 : 302–308. Scheuner
Juvenile idiopathic arthritis

Juvenile idiopathic arthritis  

Brogan Foster and Paul A. Brogan

in Paediatric Rheumatology (2 ed.)

Print Publication Year: 
May 2018
Published Online: 
May 2018
eISBN: 
9780191801976
DOI: 
10.1093/med/9780198738756.003.0003
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training
Specialty: 
Paediatrics, Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780198738756
risk management in rheumatoid arthritis ( RA ), psoriatic arthritis (PsA) and ankylosing spondylitis (AS) 3.2 . Box 3.2 EULAR recommendations for cardiovascular (CV) risk management in rheumatoid arthritis ( RA ), psoriatic arthritis (PsA) and ankylosing spondylitis (AS) • RA should be regarded as a condition with higher CV risk. This may apply to AS and PsA • Adequate control of the disease is necessary to lower CV risk • CV risk assessment using national guidelines is recommended for all patients with RA (and considered in PsA and AS) • CV
Neurogenetics

Neurogenetics  

Amy McGregor

in Neurology Board Review: Questions and Answers

Print Publication Year: 
May 2016
Series: 
Other
Published Online: 
Jul 2016
eISBN: 
9780190498429
DOI: 
10.1093/med/9780199895625.003.0013
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Neurology, Paediatrics
Item type: 
chapter
ISBN: 
9780199895625
and genetic aspects. J Med Genet 2003;40:87–95. 7. McCandless SE. Clinical report: Health supervision for children with Prader-Willi Syndrome. Committee on Genetics . Pediatrics 2011;127:195–204. 8. Cassidy SB , Schwartz S , Miller JL , Driscoll DJ. Prader-Willi syndrome. Genet Med 2012;14:10–26. 9. Driscoll DJ , Miller JL , Schwartz S , et al. Prader-Willi syndrome. In: Pagon RA , Adam MP , Bird TD , et al., editors. GeneReviews [Internet journal]. Seattle, Wash., University of Washington, October 6, 1998 (last revision: January 23, 2014)
Diagnosis and clinical features of rheumatoid arthritis

Diagnosis and clinical features of rheumatoid arthritis  

Raashid Luqmani, Maarten Boers, and Theodore Pincus (eds)

in Rheumatoid Arthritis (Oxford Rheumatology Library)

Print Publication Year: 
Feb 2010
Series: 
Oxford Medical Libraries, Oxford Rheumatology Library
Published Online: 
May 2011
eISBN: 
9780191740213
DOI: 
10.1093/med/9780199556755.003.0003
Career: 
Nurse, Qualified Nurse, Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199556755
rheumatoid factor and or ACPA, cigarette smoking and the presence of the shared epitope of HLA class II (see Chapter Chapter 1 Epidemiology, genetics and economic burden of rheumatoid arthritis 1 ). However, these epidemiologic data refer to groups of patients, and decisions concerning the level of intensity of therapies are generally based on the clinical findings and course in individual patients. Most patients with RA have a natural history of progressive disease. Poor function, and the presence of co-morbidity and joint damage at presentation are significant
The Practice of Medical Genetics in Brazil

The Practice of Medical Genetics in Brazil  

Dafne Dain Gandelman Horovitz, Antonia Paula Marques-de-Faria, and Victor Evangelista de Faria Ferraz

in Genomics and Health in the Developing World

Print Publication Year: 
May 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2014
eISBN: 
9780199392995
DOI: 
10.1093/med/9780195374759.003.0103
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
chapter
ISBN: 
9780195374759
Scottish molecular genetics consortium—15 years on. Health Bull (Edinb) 60(1):83–90. Kroese M , Zimmern RL , Farndon P , Stewart F , Whittaker J . (2007). How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network. Eur J Hum Genet 15: 917–21. Marques-de-Faria AP , Ferraz VFE , Acosta AX , Brunoni D . (2004). Clinical Genetics in Developing Countries: The case of Brazil. Community Genet 7:95–105. Mattos RA . (2003). Integralidade e a formulação de políticas especificas de saúde. In: Pinheiro R , Mattos RA . (Org.) Construção
Basic principles of genetic disease

Basic principles of genetic disease  

Eric Schulze-Bahr

in ESC CardioMed (3 edn)

Print Publication Year: 
Dec 2018
Published Online: 
Jul 2018
eISBN: 
9780191827143
DOI: 
10.1093/med/9780198784906.003.0148
Career: 
Doctor
Specialty: 
Clinical Medicine, Cardiovascular Medicine
Item type: 
chapter
ISBN: 
9780198784906
Gibbs RA , Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008;452:872–6. 2. Fahed AC , Gelb BD , Seidman JG , Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013;112:707–20. 3. Cowan JR , Ware SM. Genetics and genetic testing in congenital heart disease. Clin Perinatol 2015;42:373–93. 4. Chaix MA , Andelfinger G , Khairy P. Genetic testing in congenital heart disease: a clinical approach. World J Cardiol 2016;8:180–91. 5. Edwards JJ , Gelb BD. Genetics of
Genetics of type 1 diabetes mellitus

Genetics of type 1 diabetes mellitus  

David A. Savage and Stephen C. Bain

in Oxford Textbook of Endocrinology and Diabetes (2 edn)

Print Publication Year: 
Jul 2011
Series: 
Oxford Textbooks
Published Online: 
Jul 2011
eISBN: 
9780199608232
DOI: 
10.1093/med/9780199235292.003.1316
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training
Specialty: 
Clinical Medicine, Endocrinology and Diabetes
Item type: 
chapter
ISBN: 
9780199235292
most likely the causal gene in type 1 diabetes ( 16 ). They reported type 1 diabetes-associated SNPs in intron 1 of the IL2 RA gene and a region between IL2 RA and RBM17 , which were found to be associated with reduced soluble IL-2 RA concentrations in serum/plasma. Elucidation of the mechanisms in which gene variants in the IL2 RA gene contribute to type 1 diabetes susceptibility will require further functional studies. The IL2 RA region has also been demonstrated to be associated with autoimmune thyroid disease, lending some support for a general autoimmune locus
Conventional and Molecular Cytogenetics in India

Conventional and Molecular Cytogenetics in India  

Prochi F. Madon

in Genomics and Health in the Developing World

Print Publication Year: 
May 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2014
eISBN: 
9780199392995
DOI: 
10.1093/med/9780195374759.003.0092
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
chapter
ISBN: 
9780195374759
International Journal of Human Genetics , 10(1–3):81–86. Sanghvi, L. D. (1974). Mystery that is heredity. In Souvenir: 1st Annual Conference of the Indian Society of Human Genetics (pp. 1–13), Mumbai. Sankar, V. H. & Phadke, S. R. (2006). Ring chromosome 13 in an infant with ambiguous genitalia. Indian Pediatrics , 43(3):258–260. Sarkar S. & Chowdhury, J. R. (1972). Effect of hydroxyurea on the chromosomes of tumour cells. Indian Journal of Cancer , 9(2):132–137. Sasikala, K. , Rosalin, F.R. , Jude, A.L.C. , Kumar, R.A . , Sudha, S. , Devi, M.V.
Isolated Populations and Common Variants

Isolated Populations and Common Variants  

Karola Rehnström and Leena Peltonen

in Autism Spectrum Disorders

Print Publication Year: 
May 2011
Series: 
Other
Published Online: 
Sep 2012
eISBN: 
9780199965212
DOI: 
10.1093/med/9780195371826.003.0049
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Psychiatry, Child and Adolescent Psychiatry, Clinical Medicine, Neurology, Neuroscience
Item type: 
chapter
ISBN: 
9780195371826
(2008). Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nature Genetics , 40 , 1399–1401. Engert JC, Lemire M, Faith J, Brisson D, Fujiwara TM, Roslin NM, et al. (2008). Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. European Journal of Human Genetics , 16 , 105–114. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA , et al. (2007). A second generation human haplotype map of over 3.1 million SNPs. Nature , 449 , 851–861. Ginns
Rheumatoid arthritis

Rheumatoid arthritis  

Gavin Clunie, Nick Wilkinson, Elena Nikiphorou, and Deepak R. Jadon

in Oxford Handbook of Rheumatology (4 edn)

Print Publication Year: 
Aug 2018
Series: 
Oxford Medical Handbooks
Published Online: 
Jul 2018
eISBN: 
9780191794506
DOI: 
10.1093/med/9780198728252.003.0005
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780198728252
respectively). 1 • Positivity for both RF and ACPA has a near 100% positive predictive value for subsequent development of RA . • Genetics also contribute to the risk of developing RA . HLA-DRB1 is most commonly associated with RA , and is often referred to as the ‘shared epitope’. Synovial pathology The exact reason why synovium is targeted is unknown. Synovium in joints and tendons becomes inflamed and local tissue damage of cartilage, bone, and surrounding tissues ensues. • There is increased synovial vascularity, influx of monocytes and plasma cells
Cutaneous vasculitis, connective tissue diseases, and urticaria

Cutaneous vasculitis, connective tissue diseases, and urticaria  

Volha Shpadaruk and Karen E. Harman

in Oxford Textbook of Medicine (6 edn)

Print Publication Year: 
Mar 2020
Series: 
Oxford Textbooks
Published Online: 
Jan 2020
eISBN: 
9780191809019
DOI: 
10.1093/med/9780198746690.003.0556
Career: 
Doctor, Qualified, specialist
Specialty: 
Clinical Medicine, Dermatology
Item type: 
chapter
ISBN: 
9780198746690
arthritis Rheumatoid arthritis ( RA ) is a chronic inflammatory arthritis in which extra-articular manifestations are common. It is discussed in detail in Chapter 19.5 Rheumatoid arthritis 19.5 , but the cutaneous manifestations are outlined next. Cutaneous features The common cutaneous features of rheumatoid arthritis are listed in Box Box 23.7.25 Cutaneous features of rheumatoid arthritis ( RA ) 23.7.25 ; these signs are most obvious in the hands. Box 23.7.25 Cutaneous features of rheumatoid arthritis ( RA ) Rheumatoid arthritis specific skin
Medical Genetic Services in Latin America: Focus in Argentina

Medical Genetic Services in Latin America: Focus in Argentina  

Victor B. Penchaszadeh

in Genomics and Health in the Developing World

Print Publication Year: 
May 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2014
eISBN: 
9780199392995
DOI: 
10.1093/med/9780195374759.003.0105
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
chapter
ISBN: 
9780195374759
Mattos, RA . (2006). Birth defects in Brazil and health care: proposals for public policies in clinical genetics . Cad. Saúde Pública, Rio de Janeiro 22(12):2599–2609. Kofman-Alfaro S , Penchaszadeh VB . (2004). Community Genetic Services in Latin America and Regional Network of Genetic Services. Community Genet 7:157–159, 2004. Liascovich R , Rittler M , Castilla EE . (2001). Consanguinity in South America: demographic aspects. Hum Hered 51(1–2):27–34. Marques-de-Faria AP , Faria-Ferraz VE , Acosta AX , Brunoni D . (2004). Clinical genetics in Brazil
Multidisciplinary team management

Multidisciplinary team management  

Sheena Hennell, Zoe Stableford, Jane Flynn, and Raashid Luqmani

in Rheumatoid Arthritis (Oxford Rheumatology Library)

Print Publication Year: 
Feb 2010
Series: 
Oxford Medical Libraries, Oxford Rheumatology Library
Published Online: 
May 2011
eISBN: 
9780191740213
DOI: 
10.1093/med/9780199556755.003.0007
Career: 
Nurse, Qualified Nurse, Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Rheumatology
Item type: 
chapter
ISBN: 
9780199556755
consumption, all of which are important aspects of the care of patients with RA . 7.7 Smoking cessation 7.7.1 Association between smoking and RA Comorbidity is important in the morbidity and mortality of RA . Cigarette smoking may have an adverse effect on radiographic progression (see chapter Chapter 1 Epidemiology, genetics and economic burden of rheumatoid arthritis 1 ), and increases the risk of cardiovascular complications (see chapter Chapter 8 Comorbidity and complications of RA 8 ) such as myocardial infarction; therefore it is appropriate to reduce risks
Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency  

Dino Hadzic

in Paediatric Gastroenterology, Hepatology, and Nutrition (Oxford Specialist Handbook) (2 ed.)

Print Publication Year: 
Oct 2018
Series: 
Oxford Specialist Handbooks, OSHs in Paediatrics
Published Online: 
Sep 2018
eISBN: 
9780191820434
DOI: 
10.1093/med/9780198759928.003.0055
Career: 
Doctor, Qualified, late specialism training
Specialty: 
Clinical Medicine, Pain Medicine, Gastroenterology, Allied Health Professions, Dietetics
Item type: 
chapter
ISBN: 
9780198759928
Chapter 55 Alpha-1 antitrypsin deficiency Definition Definition Definition 464 Genetics and epidemiology Genetics and epidemiology Genetics and epidemiology 464 Clinical disorders Clinical disorders Clinical disorders 464 Pathogenesis of liver disease Pathogenesis of liver disease Pathogenesis of liver disease 464 Clinical features of homozygous PiZ A1AT deficiency Clinical features of homozygous PiZ A1AT deficiency Clinical features of homozygous PiZ A1AT deficiency 465 Management Management Management

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