The family history of rheumatoid arthritis in anti-cyclic citrullinated peptide antibody-positive patient is not a predictor of poor clinical presentation and treatment response with modern classification criteria and treatment strategy: the ANSWER cohort study

2019 ◽  
Vol 40 (2) ◽  
pp. 217-225 ◽  
Author(s):  
Koichi Murata ◽  
Motomu Hashimoto ◽  
Wataru Yamamoto ◽  
Yonsu Son ◽  
Hideki Amuro ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Cohort Study ◽  
Family History ◽  
Clinical Presentation ◽  
Classification Criteria ◽  
Peptide Antibody ◽  
The Family ◽  
Modern Classification ◽  
History Of ◽  
Citrullinated Peptide

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

scholarly journals P129 Predictors of low bone mineral density in rheumatoid arthritis

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Malika A Swar ◽  
Marwan Bukhari
Keyword(s):  
Rheumatoid Arthritis ◽  
Risk Factors ◽  
Bone Mineral Density ◽  
Family History ◽  
Bone Loss ◽  
Femoral Neck ◽  
Bone Mineral ◽  
Fragility Fracture ◽  
Mineral Density ◽  
History Of

Abstract Background/Aims  Osteoporosis (OP) is an extra-articular manifestation of rheumatoid arthritis (RA) that leads to increased fracture susceptibility due to a variety of reasons including immobility and cytokine driven bone loss. Bone loss in other populations has well documented risk factors. It is unknown whether bone loss in RA predominantly affects the femoral neck or the spine. This study aimed to identify independent predictors of low bone mineral density (BMD) in patients RA at the lumbar spine and the femoral neck. Methods  This was a retrospective observational cohort study using patients with Rheumatoid arthritis attending for a regional dual X-ray absorptiometry (DEXA) scan at the Royal Lancaster Infirmary between 2004 and 2014. BMD in L1-L4 in the spine and in the femoral neck were recorded. The risk factors investigated were steroid use, family history of osteoporosis, smoking, alcohol abuse, BMI, gender, previous fragility fracture, number of FRAX(tm) risk factors and age. Univariate and Multivariate regression analysis models were fitted to explore bone loss at these sites using BMD in g/cm2 as a dependant variable. . Results  1,527 patients were included in the analysis, 1,207 (79%) were female. Mean age was 64.34 years (SD11.6). mean BMI was 27.32kg/cm2 (SD 5.570) 858 (56.2%) had some steroid exposure . 169(11.1%) had family history of osteoporosis. fragility fracture history found in 406 (26.6%). 621 (40.7%) were current or ex smokers . There was a median of 3 OP risk factors (IQR 1,3) The performance of the models is shown in table one below. Different risk factors appeared to influence the BMD at different sites and the cumulative risk factors influenced BMD in the spine. None of the traditional risk factors predicted poor bone loss well in this cohort. P129 Table 1:result of the regression modelsCharacteristicB femoral neck95% CIpB spine95%CIpAge at scan-0.004-0.005,-0.003<0.01-0.0005-0.002,0.00050.292Sex-0.094-0.113,-0.075<0.01-0.101-0.129,-0.072<0.01BMI (mg/m2)0.0080.008,0.0101<0.010.01130.019,0.013<0.01Fragility fracture-0.024-0.055,0.0060.12-0.0138-0.060,0.0320.559Smoking0.007-0.022,0.0350.650.0286-0.015,0.0720.20Alcohol0.011-0.033,0.0 5560.620.0544-0.013,0.1120.11Family history of OP0.012-0.021,0.0450.470.0158-0.034,0.0650.53Number of risk factors-0.015-0.039,0.0080.21-0.039-0.075,-0.0030.03steroids0.004-0.023,0.0320.030.027-0.015,0.0690.21 Conclusion  This study has shown that predictors of low BMD in the spine and hip are different and less influential than expected in this cohort with RA . As the FRAX(tm) tool only uses the femoral neck, this might underestimate the fracture risk in this population. Further work looking at individual areas is ongoing. Disclosure  M.A. Swar: None. M. Bukhari: None.

scholarly journals SAT0589 RISK FOR PSYCHIATRIC HOSPITALIZATION FOLLOWING A RHEUMA-RELATED HOSPITALIZATION: RESULTS FROM A CZECH NATIONWIDE, COHORT STUDY

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1253.2-1254
Author(s):  
T. Formánek ◽  
K. Mladá ◽  
M. Husakova
Keyword(s):  
Rheumatoid Arthritis ◽  
Cohort Study ◽  
Ankylosing Spondylitis ◽  
Rheumatic Disease ◽  
Rheumatic Diseases ◽  
Psychiatric Hospitalization ◽  
Population Based ◽  
Index Hospitalization ◽  
Increased Risk ◽  
History Of

Background:Cohort studies using nationwide health registers have shown an increased risk for affective and anxiety disorders in people with ankylosing spondylitis (AS) and rheumatoid arthritis (RA) (1-3). Moreover, a nationwide cohort study demonstrated an increased risk for mental disorders in people with rheumatic diseases (4).Objectives:We aimed to investigate the risk for psychiatric hospitalization following a hospitalization for rheumatic disease.Methods:Using data from the Czech nationwide register of all-cause hospitalizations, we obtained 4 971 individuals hospitalized (index hospitalization) between 2004 and 2012 for rheumatic diseases - RA, spondyloarthritis (including AS, psoriatic arthritis and undifferentiated spondyloarthritis), systemic lupus erythematosus and systemic sclerodermia, with no history of psychiatric and rheuma-related hospitalization in the previous 10 years from the index hospitalization. On these individuals, we randomly matched (on age, gender and year of index hospitalization) controls that were hospitalized in the same time period for a non-rheumatic disease and have no history of psychiatric and rheumatic hospitalization in the last 10 years from their index hospitalization, in the ratio of 1:5. We employed conditional logistic regression for assessing the risk for psychiatric hospitalization in the subsequent 3 years from the index hospitalization. To strengthen our results, we repeated the matching step 100 times and run the analysis on each resulting dataset separately, and pooled the results. The findings are expressed as odds ratios (OR) with 95% confidence intervals (95% CI).Results:We identified an elevated risk for psychiatric (OR = 1.34, 95% CI = 1; 1.78) and for affective disorders (OR = 2.19, 95% CI = 1.17; 4.1) in people hospitalized for rheumatic diseases. We did not find a statistically significant association with organic, psychotic and anxiety disorders.Conclusion:There is an increased risk for experiencing a psychiatric disorder in the period of 3 years after a rheuma-related hospitalization.References:[1]Shen C-C, Hu L-Y, Yang AC, Kuo BI-T, Chiang Y-Y, Tsai S-J. Risk of Psychiatric Disorders following Ankylosing Spondylitis: A Nationwide Population-based Retrospective Cohort Study. The Journal of Rheumatology. 2016;43(3).[2]Park J-S, Jang H-D, Hong J-Y, Park Y-S, Han K, Suh S-W, et al. Impact of ankylosing spondylitis on depression: a nationwide cohort study. Scientific Reports. 2019;9(1):6736.[3]Hsu C-C, Chen S-C, Liu C-J, Lu T, Shen C-C, Hu Y-W, et al. Rheumatoid Arthritis and the Risk of Bipolar Disorder: A Nationwide Population-Based Study. PLOS ONE. 2014;9(9).[4]Sundquist K, Li X, Hemminki K, Sundquist J. Subsequent Risk of Hospitalization for Neuropsychiatric Disorders in Patients With Rheumatic Diseases: A Nationwide Study From Sweden. Archives of General Psychiatry. 2008;65(5):501-7.Acknowledgments:Supported by the project (Ministry of Health Czech Republic) for conceptual development of research organization 00023728 (Institute of Rheumatology).Disclosure of Interests:Tomáš Formánek: None declared, Karolina Mladá: None declared, Marketa Husakova Speakers bureau: Novartis

Association between gastric cancer and the family history of gastric cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hyo Geun Choi ◽  
Wook Chun ◽  
Kuk Hyun Jung
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
The Family ◽  
History Of

scholarly journals Assessment of 105 Patients with Angiotensin Converting Enzyme-Inhibitor Induced Angioedema

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Eva Rye Rasmussen ◽  
Christian von Buchwald ◽  
Mia Wadelius ◽  
Sumangali Chandra Prasad ◽  
Shailajah Kamaleswaran ◽  
...  
Keyword(s):  
Cohort Study ◽  
Family History ◽  
Angiotensin Converting Enzyme ◽  
Angiotensin Converting Enzyme Inhibitor ◽  
Protective Factor ◽  
Enzyme Inhibitor ◽  
Female Gender ◽  
Converting Enzyme ◽  
Converting Enzyme Inhibitor ◽  
History Of

Objective. To asses a cohort of 105 consecutive patients with angiotensin converting enzyme-inhibitor induced angioedema with regard to demographics, risk factors, family history of angioedema, hospitalization, airway management, outcome, and use of diagnostic codes used for the condition. Study Design. Cohort study. Methods. This was a retrospective cohort study of 105 patients with angiotensin converting enzyme-inhibitor induced angioedema in the period 1995–2014. Results. The cohort consisted of 67 females and 38 males (F : M ratio 1.8), with a mean age of 63 [range 26–86] years. Female gender was associated with a significantly higher risk of angiotensin converting enzyme-inhibitor induced angioedema. 6.7% had a positive family history of angioedema. Diabetes seemed to be a protective factor with regard to angioedema. 95% experienced angioedema of the head and neck. 4.7% needed intubation or tracheostomy. 74 admissions took place during the study period with a total of 143 days spent in the hospital. The diagnosis codes most often used for this condition were “DT783 Quincke’s oedema” and “DT78.4 Allergy unspecified”. Complement C1 inhibitor was normal in all tested patients. Conclusion. Female gender predisposes to angiotensin converting enzyme-inhibitor induced angioedema, whereas diabetes seems to be a protective factor.

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

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