Chromosome 5 inversion in two siblings, one with Klinefelter syndrome and systemic sclerosis, the other with rheumatoid arthritis

2007 ◽  
Vol 28 (7) ◽  
pp. 725-726 ◽  
Author(s):  
Elena Bargagli ◽  
Gabriella Bartalini ◽  
Mauro Galeazzi ◽  
Claudia Maggiorelli ◽  
Cecilia Anichini ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Sclerosis ◽  
Klinefelter Syndrome ◽  
The Other ◽  
Chromosome 5

scholarly journals Possibilities of nailfold capillaroscopy in the differential diagnosis of immuno-inflammatory and rheumatological diseases

2020 ◽  
Vol 12 (3) ◽  
pp. 21-26
Author(s):  
Ilya N. Penin ◽  
A. L. Maslyanskiy ◽  
A. O. Konradi ◽  
Vadim I. Mazurov
Keyword(s):  
Rheumatoid Arthritis ◽  
Pulmonary Hypertension ◽  
Systemic Sclerosis ◽  
The Other ◽  
Nailfold Capillaroscopy ◽  
Pathological Changes ◽  
Capillary Loop ◽  
Comparison Groups ◽  
Idiopathic Pulmonary Hypertension ◽  
Rheumatological Diseases

This article considers capillaroscopic changes in the patients with systemic sclerosis compared to the patients with a group of rheumatological diseases (rheumatoid arthritis, polymyositis, osteoarthritis) and the patients with idiopathic pulmonary hypertension. All the patients diagnosed with systemic sclerosis according to nailfold capillaroscopy had a characteristic combination of capillary disorders (Raynauds syndrome): the expansion of all three segments of the capillary loop, the loss of capillaries, and the destruction of the nail fold. In the comparison groups, the capillaroscopic picture was represented by single pathological changes that did not add up to the pathognomonic scleroderma patterns, with the exception of the groups with dermato/polymyositis, where 2 patients had significant Raynauds syndrome. There were also significant differences in the density of the capillaries in the patients with systemic sclerosis in comparison with the other groups.

scholarly journals OP0096 EXPOSURE TO DENGUE INFECTION DO NOT RAISE RISK OF RHEUMATOID ARTHRITIS: FINDINGS FROM THE MALAYSIAN EPIDEMIOLOGICAL INVESTIGATION OF RHEUMATOID ARTHRITIS (MYEIRA) CASE-CONTROL STUDY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 53.1-53
Author(s):  
L. K. Tan ◽  
C. L. Too ◽  
A. F. Nurul-Aain ◽  
A. A. Siti-Aisyah ◽  
S. Wahinuddin ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Ethnic Groups ◽  
Antibody Level ◽  
Dengue Infection ◽  
The Other ◽  
Director General ◽  
Igg Antibody ◽  
Ministry Of Health ◽  
Malaysian Population ◽  
Mixed Ethnicity

Background:Dengue infection is associated with joints pain mimicking disease onset symptom of rheumatoid arthritis (RA). However, there is lack of epidemiological studies on exposure to dengue infection and risk of future RA.Objectives:We investigated the relationship between exposure to dengue infection and risk of developing different subsets of RA, defined by the presence of anti-citrullinated peptide antibody (ACPA) in the multi-ethnic Malaysian population.Methods:Serum samples from 1,235 RA cases (i.e. 516 Malay, 254 Chinese, 405 Indians and 60 others/mixed-ethnicity) and 1,624 epidemiological matched population-based controls (i.e. 1,023 Malay, 208 Chinese, 297 Indians and 96 others/mixed-ethnicity) were assayed for presence of dengue IgG antibody using World Health Organization recommended ELISA kits. Positive results of dengue IgG antibodies indicates previous exposure to dengue infection(s). We performed chi-square and Mann-Whitney U analysis to determine the association of ever-exposed dengue infection with ACPA-positive/ACPA-negative RA and to investigate the antibody frequency and levels among the studied populations.Results:We observed high occurrence of dengue IgG antibody in the overall RA cases (79.7%) and matched controls (77.3%), with no significant differences detected between the ACPA subsets of RA. Ethnicity stratification analysis revealed a decrease risk of developing ACPA-positive RA in the Indian patients with positive dengue IgG antibody (OR=0.59, 95% CI=0.37-0.94, p=0.03), and in particular patients with elevated level of dengue IgG antibody (OR=0.44, 95% CI=0.25-0.78, p<0.05). On the other hand, the significant decrease mean levels of dengue IgG antibody were observed in the ACPA-positive RA subset for all three major ethnic groups (i.e. Malay, p<0.0001, Chinese, p<0.01 and Indian<0.05) (Figure 1). No association was observed between presence of dengue IgG antibody and ACPA-negative RA subset.Figure 1.Comparison of mean dengue IgG antibody level between ever-exposed dengue infection RA cases, stratified by ACPA status. Comparison of median dengue IgG antibody level between the ever-exposed dengue infection ACPA-positive RA and normal controls in the four ethnic groups. The red line indicates the mean level of dengue IgG antibody levelConclusion:Our findings demonstrated that exposure to dengue infection do not increase the risk of developing future RA in the multi-ethnic Malaysian population. The inverse associations observed in the Indian ethnic group are in line with the other studies investigating exposure to viral infection and risk of RA.References:[1]Sherina et al (2017) Low levels of antibodies against common viruses associate with anti-citrullinated protein antibody-positive rheumatoid arthritis; implications for disease aetiology. Arthritis Research & Therapy 2017, 19:2169[2]Gissel García et. al. (2011) Long-term persistence of clinical symptoms in dengue-infected persons and its association with immunological disorders. International Journal of Infectious Diseases 15 (2011) e38–e43Acknowledgements:The authors would like to thank the Director General of Health, Ministry of Health Malaysia for supporting this study. The authors are also indebted to participants for their kind participation. This study was financially supported by the Ministry of Health, Malaysia (JPP-IMR 17-025) and the short-term research grant by UniKL RCMP (str16037).Disclosure of Interests:None declared

scholarly journals Prostacyclin-IP signaling and prostaglandin E2-EP2/EP4 signaling both mediate joint inflammation in mouse collagen-induced arthritis

2006 ◽  
Vol 203 (2) ◽  
pp. 325-335 ◽  
Author(s):  
Tetsuya Honda ◽  
Eri Segi-Nishida ◽  
Yoshiki Miyachi ◽  
Shuh Narumiya
Keyword(s):  
Rheumatoid Arthritis ◽  
Synovial Fluid ◽  
Joint Inflammation ◽  
Synovial Fibroblasts ◽  
The Other ◽  
Receptor Subtype ◽  
Significant Suppression ◽  
Wild Type ◽  
Collagen Induced Arthritis

Prostaglandin (PG)I2 (prostacyclin [PGI]) and PGE2 are abundantly present in the synovial fluid of rheumatoid arthritis (RA) patients. Although the role of PGE2 in RA has been well studied, how much PGI2 contributes to RA is little known. To examine this issue, we backcrossed mice lacking the PGI receptor (IP) to the DBA/1J strain and subjected them to collagen-induced arthritis (CIA). IP-deficient (IP−/−) mice exhibited significant reduction in arthritic scores compared with wild-type (WT) mice, despite anti-collagen antibody production and complement activation similar to WT mice. IP−/− mice also showed significant reduction in contents of proinflammatory cytokines, such as interleukin (IL)-6 in arthritic paws. Consistently, the addition of an IP agonist to cultured synovial fibroblasts significantly enhanced IL-6 production and induced expression of other arthritis-related genes. On the other hand, loss or inhibition of each PGE receptor subtype alone did not affect elicitation of inflammation in CIA. However, a partial but significant suppression of CIA was achieved by the combined inhibition of EP2 and EP4. Our results show significant roles of both PGI2-IP and PGE2-EP2/EP4 signaling in the development of CIA, and suggest that inhibition of PGE2 synthesis alone may not be sufficient for suppression of RA symptoms.

scholarly journals New Autoantibody Specificities in Systemic Sclerosis and Very Early Systemic Sclerosis

Antibodies ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 12
Author(s):  
Roberto Lande ◽  
Raffaella Palazzo ◽  
Anna Mennella ◽  
Immacolata Pietraforte ◽  
Marius Cadar ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Early Diagnosis ◽  
Antibody Response ◽  
Allelic Variant ◽  
The Other ◽  
Autoantibody Response ◽  
Autoimmune Condition ◽  
Early Systemic Sclerosis ◽  
Systemic Sclerosis Patient

Chemokine (C-X-C motif) ligand 4 (CXCL4) is a biomarker of unfavorable prognosis in Systemic Sclerosis (SSc), a potentially severe autoimmune condition, characterized by vasculitis, fibrosis and interferon (IFN)-I-signature. We recently reported that autoantibodies to CXCL4 circulate in SSc patients and correlate with IFN-α. Here, we used shorter versions of CXCL4 and CXCL4-L1, the CXCL4 non-allelic variant, to search for autoantibodies exclusively reacting to one or the other CXCL4 form. Moreover, to address whether anti-CXCL4/CXCL4-L1 antibodies were present before SSc onset and predicted SSc-progression, we longitudinally studied two VEDOSS (Very Early Diagnosis of Systemic Sclerosis) patient cohorts, separating SSc-progressors from SSc-non-progressors. We found that anti-CXCL4-specific autoantibodies were present in both SSc and VEDOSS patients (both SSc-progressors and SSc-non-progressors). Anti-CXCL4-L1-specific autoantibodies were especially detected in long-standing SSc (lsSSc). Anti-CXCL4/CXCL4-L1 antibodies correlated with IFN-α and with specific SSc-skin features but only in lsSSc and not in early SSc (eaSSc) or VEDOSS. Thus, a broader antibody response, with reactivity spreading to CXCL4-L1, is characteristic of lsSSc. The early anti-CXCL4 autoantibody response seems qualitatively different from, and likely less pathogenic than, that observed in advanced SSc. Lastly, we confirm that anti-CXCL4 autoantibodies are SSc-biomarkers and uncover that also CXCL4-L1 becomes an autoantigen in lsSSc.

Fire-Setting Behavior in Individuals With Klinefelter Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (1) ◽  
pp. 115-117
Author(s):  
MARVIN E. MILLER ◽  
STEPHEN SULKES
Keyword(s):  
Criminal Behavior ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Mental Deficiency ◽  
The Other ◽  
Sexual Deviation ◽  
Reactive Depression ◽  
Y Chromosomes ◽  
Psychiatric Problems ◽  
Chromosome Disorder

Klinefelter syndrome is a sex chromosome disorder with an incidence of approximately two per 1,000 male newborns.1 Eighty percent of individuals with Klinefelter syndrome are 47,XXY, whereas the other 20% have a variant sex chromosomal constitution with additional supernumerary X or Y chromosomes (ie, 48,XXXY, 48XXYY) or are mosaic.2 Individuals with Klinefelter syndrome have small testes which usually cannot produce sperm or normal amounts of testosterone. The results of this are infertility and undermasculinization. Behavioral and psychiatric problems are also common in individuals with Klinefelter syndrome and include personality disorder, reactive depression, schizophrenia, mental deficiency, sexual deviation, criminal behavior, and alcoholism.3

scholarly journals Cost-Effectiveness Analysis of Biopharmaceuticals for Treating Rheumatoid Arthritis: Infliximab, Adalimumab, and Etanercept

2021 ◽  
Vol 2021 ◽  
pp. 1-12
Author(s):  
Ahmad Gholami ◽  
Jassem Azizpoor ◽  
Elham Aflaki ◽  
Mehdi Rezaee ◽  
Khosro Keshavarz
Keyword(s):  
Rheumatoid Arthritis ◽  
Sensitivity Analysis ◽  
Cost Effectiveness ◽  
Cost Effective ◽  
The Other ◽  
Cost Data ◽  
Fars Province ◽  
Study Results ◽  
The Mean ◽  
The Cost

Introduction. Rheumatoid arthritis (RA) is a chronic progressive inflammatory disease that causes joint destruction. The condition imposes a significant economic burden on patients and societies. The present study is aimed at evaluating the cost-effectiveness of Infliximab, Adalimumab, and Etanercept in treating rheumatoid arthritis in Iran. Methods. This is a cost-effectiveness study of economic evaluation in which the Markov model was used. The study was carried out on 154 patients with rheumatoid arthritis in Fars province taking Infliximab, Adalimumab, and Etanercept. The patients were selected through sampling. In this study, the cost data were collected from a community perspective, and the outcomes were the mean reductions in DAS-28 and QALY. The cost data collection form and the EQ-5D questionnaire were also used to collect the required data. The results were presented in the form of an incremental cost-effectiveness ratio, and the sensitivity analysis was used to measure the robustness of the study results. The TreeAge Pro and Excel softwares were used to analyze the collected data. Results. The results showed that the mean costs and the QALY rates in the Infliximab, Adalimumab, and Etanercept arms were $ 79,518.33 and 12.34, $ 91,695.59 and 13.25, and $ 87,440.92 and 11.79, respectively. The one-way sensitivity analysis confirmed the robustness of the results. In addition, the results of the probabilistic sensitivity analysis (PSA) indicated that on the cost-effectiveness acceptability curve, Infliximab was in the acceptance area and below the threshold in 77% of simulations. The scatter plot was in the mentioned area in 81% and 91% of simulations compared with Adalimumab and Etanercept, respectively, implying lower costs and higher effectiveness than the other two alternatives. Therefore, the strategy was more cost-effective. Conclusion. According to the results of this study, Infliximab was more cost-effective than the other two medications. Therefore, it is recommended that physicians use this medication as the priority in treating rheumatoid arthritis. It is also suggested that health policymakers consider the present study results in preparing treatment guidelines for RA.

Sign in / Sign up

Export Citation Format

Share Document