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Purpose: FRAX® is a tool used for evaluation of risk of fracture in RA and non-RA patients and to identify those eligible for intervention. One of the limitations of FRAX in RA settings is that it does not consider factors known to contribute to osteoporosis such as autoantibodies. This study analysed the association of anti-mutated citrullinated vimentin antibody (anti-MCV), anti-cyclic citrullinated peptide antibody (anti-CCP), IgM rheumatoid factor (RF), IgA RF with 10-year risk of major osteoporosis and hip fracture. Methods: FRAX® tool was used to estimate 10-year risk of major osteoporosis fracture and hip fracture in 189 RA patients over 40 years of age. Anti-MCV, anti-CCP, IgM RF and IgA RF were tested using enzyme immunoassay and analysed at different levels. Results were adjusted for various confounders including disease activity. Results: Fifty-one (26.9%) RA patients had high (≥20%) 10-year risk of major osteoporosis fracture and 67 (35.4%) had high (>3%) 10-year risk of hip fracture. Among all the tested autoantibodies, only IgM RF at elevated levels was associated with high 10-year risk of major osteoporosis fracture (adjusted OR = 4.1, 95% CI = 1.5-11.3, p = 0.006) and of hip fracture (adjusted OR = 17.4, 95% CI = 3.7-81.3, p < 0.0001). There was no agreement between FRAX and femoral neck (FN) BMD. None of the autoantibodies tested were associated with FN osteopenia or osteoporosis including IgM RF at high levels. Conclusion: Our study highlights the importance of quantitative measurement of autoantibodies in assessment of risk for fractures among RA patients. Our preliminary findings need to be assessed in prospective studies to determine the actual predictive value of high IgM RF levels among patients with RA.
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The Psoriatic Arthritis Impact of Disease (PsAID-12) questionnaire, a recommended measure of patient-reported impact for psoriatic arthritis (PsA), was initially developed in Europe and may lack universal validity. Recognizing the need for a culturally appropriate tool for Arab patients, this study aimed to TranslAte, CulTurally adapt, and validate the PsAID in ArabIC (TACTIC). The PsAID-12 was translated into Arabic using a rigorous process of double translation, back-translation, and cognitive debriefing. The Arabic version was then validated through a study conducted in 13 Arab countries in 2022. Participants were consecutive literate adult patients diagnosed with PsA and fulfilling the CASPAR criteria. Collected data included PsAID-12, disease activity, and legacy patient-reported outcomes. Psychometric properties, such as internal consistency, construct validity, and test-retest reliability, were examined. Factors associated with high PsAID-12 total scores (> 4) were explored using multivariable binary logistic regression. A culturally adapted Arabic PsAID-12 questionnaire was achieved with minor rephrasing. The validation study included 554 patients from 13 countries (mean age 45 years, 59% females), with a mean PsAID score of 3.86 (SD 2.33). The Arabic PsAID-12 demonstrated excellent internal consistency (Cronbach's α = 0.95), and correlations with other measures ranged from 0.63 to 0.78. Test-retest reliability (N = 138 patients) was substantial (intraclass correlation coefficient, ICC 0.90 [0.86-0.93]; Cohen's kappa 0.80). Factors associated with a high PsAID score were disability (odds ratio, OR 3.15 [2.03-4.89]), depression (OR 1.56 [1.35-1.81]), widespread pain (OR 1.31 [1.12-1.53]), and disease activity (OR 1.29 [1.13-1.47]). Pain and fatigue were identified as the most impactful PsAID-12 domains for PsA patients. The Arabic PsAID is a valid and reliable measure that reflects the priorities of patients with PsA. PsAID scores correlated with disease activity and legacy outcome measures, as expected, indicating PsAID is a consistent measure of PsA impact across cultures. These findings highlight the potential of the Arabic PsAID in improving the care provided to Arabic-speaking patients worldwide.
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Artrite Psoriásica , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Masculino , Artrite Psoriásica/diagnóstico , Artrite Psoriásica/psicologia , Reprodutibilidade dos Testes , Árabes , Oriente Médio , Inquéritos e Questionários , Dor , PsicometriaRESUMO
[This corrects the article DOI: 10.1371/journal.pone.0266257.].
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The aim of this longitudinal study was to examine the effects of 1-yr of volleyball practice on the bone mass development in the growing skeleton among prepubescent children. Twenty volleyball players and nine teen matched control boys (Tanner stage 1, at the start of the study) were followed over a 1-yr period. Bone mineral density (BMD, g/cm2), bone mineral content (BMC, g) were measured by dual-energy X-ray absorptiometry on the whole body, lumbar spine (L2-L4), legs, arms, femoral necks, hips and radii. At follow-up, in comparison with controls, volleyball players gained more BMD in whole body (4.5% vs 1.7%; p = 0.014), both nondominant and dominant arms (5.8% vs 1.1% p = 0.005, and 6% vs 2.1%; p = 0.003, respectively), both nondmoninat and dominant legs (9% vs 4.8%; p = 0.005 and 10.7% vs 6% p = 0.0025; respectively), dominant ultradistal radius (10.4% vs 0.9%; p = 0.005), dominant third distal radius (9.6% vs 3.71%; p = 0.023), dominant whole radius (7.4% vs 3.1%; p = 0.017), lumbar spine L2-L4 (9.9% vs 2.8%; p = 0.004), femoral neck (4.7% vs 1.6%; p = 0.034), trochanter (6% vs 1.5%; p<0.001) and total hip (6.1% vs 2.6%; p = 0.006). Volleyball players gained more BMC in both nondominant and dominant arms (25.1% vs 13.4%; p = 0.003, and 26.1% vs 15.6%; p<0.001 respectively), both nondominant and dominant legs (20.2% vs 14.5%; p = 0.004 and 23% vs 16%; p = 0.004, respectively), dominant ultradistal radius (22.4% vs 8.7%; p = 0.002), dominant third distal radius (20.9% vs 5.9%; p = 0.001), dominant whole radius (20% vs 13%), nondominant third distal radius (14.5% vs 5.9%; p = 0.001), nondominant whole radius (21.1% vs 12%; p = 0.002), lumbar spine L2-L4 (21.1% vs 13.7%; p = 0.007), femoral neck (25.9% vs 8.7%; p = 0.007), trochanter (23.5% vs 17.1%; p = 0.006), and total hip (16.3% vs 11.3%; p = 0.009) than controls. A close correlation was observed between the increment (Δ) of whole body lean mass and increased (Δ) BMD and BMC in whole body (r = 0.43, p<0.01, r = 0.73, p<0.001; respectively), lumbar spine (r = 0.54, r = 0.61, p<0.001; respectively), trochanter (r = 0.46, p<0.01, r = 0.35, p<0.05; respectively), and total hip (r = 0.53, p<0.01, r = 0.6, p<0.0001; respectively). In summary, 1-yr of volleyball practice has an osteogenic effect on bone mass in loaded sites in prepubescent boys.
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Densidade Óssea , Voleibol , Absorciometria de Fóton , Adolescente , Criança , Colo do Fêmur/diagnóstico por imagem , Humanos , Estudos Longitudinais , Vértebras Lombares/diagnóstico por imagem , MasculinoRESUMO
OBJECTIVES: Little is known about genes predisposing to systemic bone loss (SBL) in rheumatoid arthritis (RA). Therefore, we examined the association between SBL and variants of genes playing a critical role in both immune response and bone homeostasis among patients with RA. METHODS: IRAK-1 rs3027898, IRAK-2 rs3844283, IRAK-2 rs708035, IFIH1 rs1990760, CD40 rs48104850, TNFAIP3 rs2230926, and miR146-a rs2910164 were genotyped in 176 adult RA patients. Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry (DXA). RESULTS: Low BMD was observed in 116 (65.9%) patients. Among them, 60 (34.1%) had low femoral neck (FN) Z score, 72 (40.9%) had low total femur (TF) Z score, and 105 (59.6%) had low lumbar spine (LS) Z score. Among all the SNPs assessed, only CD40 rs4810485 was found to be associated with reduced TF Z score with the CD40 rs4810485 T allele protecting against reduced TF Z score (OR = 0.40, 95% CI = 0.23-0.68, p = 0.0005). This association was confirmed in the multivariate logistic regression analysis (OR = 0.31, 95% CI = 0.16-0.59, p = 3.84 × 10-4). Moreover, median FN BMD was reduced among RA patients with CD40 rs4810485 GG genotype compared to RA patients harbouring CD40 rs4810485 TT and GT genotypes (0.788 ± 0.136 versus 0.826 ± 0.146 g/cm2, p = 0.001). IRAK-1 rs3027898, IRAK-2 rs3844283, rs708035, IFIH rs1990760, TNFAIP3 rs2230926, and miR146-a rs2910164 were not found to be associated with SBL. CONCLUSION: This study for the first time ever demonstrated an association between a CD40 genetic variant and SBL among patients with RA. KEY POINTS: ⢠CD40 rs4810485 GG genotype is associated with decreased BMD among patients with RA. ⢠CD40 rs4810485 might serve as a genetic marker for SBL in RA. ⢠CD40 genetic variations might be integrated in future development of more effective therapeutic interventions for prevention of SBL in RA.
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Artrite Reumatoide , Densidade Óssea , Absorciometria de Fóton , Adulto , Artrite Reumatoide/complicações , Artrite Reumatoide/genética , Densidade Óssea/genética , Antígenos CD40/genética , Colo do Fêmur , HumanosRESUMO
Data are still scarce regarding the prevalence and the associated factors of vertebral fractures (VF) in the North Africa and the Middle East region. In this study, VF were common in at risk Tunisian women with a prevalence of 26.19%. Lower total hip T-score, having severe back pain, and being physically inactive were independently associated with VF. INTRODUCTION: Vertebral fractures are related to a marked increase in morbidity and mortality and they are associated with a definite risk of subsequent fracture. Nevertheless, they remain underdiagnosed and little is known about their epidemiology in the African countries. In this first Tunisian study, we aimed to assess the prevalence and the associated factors of asymptomatic VF among at risk Tunisian post-menopausal women. METHODS: In this cross-sectional study, we included post-menopausal women without a previous diagnosis of VF and who were referred for bone mineral density (BMD) measurement. Each participant had had an extensive medical history investigation, a BMD assessment, and a vertebral fracture assessment (VFA) scan using a dual energy X-ray absorptiometry. VF were defined using Genant semi-quantitative method. RESULTS: Two hundred and ten post-menopausal women were included. The overall prevalence of VF was 26.19% and 9.52% of our participants had multiple VF. The prevalence of VF was significantly higher in older participants, those having a history of prior severe fragility fracture, or having at least one intrinsic fall. The percentage of low bone mineral density and osteoporosis were significantly higher in women with VF. After binary logistic regression analysis, severe back pain (OR = 3.016; 95% CI 1.304-6.974), regular physical activity (OR = 0.065; 95% CI 0.02-0.213), and total hip T-score (OR = 0.56; 95% CI 0.383-0.820) were independently associated with VF. CONCLUSION: VF are very prevalent among at risk Tunisian post-menopausal women and their incorporation in a clinical and densitometric tool might identify more effectively subsequent fracture.
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Fraturas por Osteoporose , Fraturas da Coluna Vertebral , Absorciometria de Fóton , Idoso , Densidade Óssea , Estudos Transversais , Feminino , Humanos , Fraturas por Osteoporose/diagnóstico por imagem , Fraturas por Osteoporose/epidemiologia , Pós-Menopausa , Prevalência , Fatores de Risco , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/epidemiologiaRESUMO
INTRODUCTION: Autoantibodies such as IgM rheumatoid factor (RF) and anti-citrullinated proteins/peptides antibodies (ACPA) have previously been incriminated in systemic bone loss in rheumatoid arthritis (RA). There are, however, no data describing association of IgA RF and IgG RF with systemic bone loss. OBJECTIVE: This study was aimed to investigate the association of RF isotypes with systemic bone loss among patients with RA. METHODS: RF isotypes and ACPA were measured by enzyme-linked immunosorbent assay among 153 patients with RA. Bone mineral density (BMD) was assessed using dual-energy X-ray absorptiometry. RESULTS: Ninety-four (61.4%) patients had positive IgA RF, 89 (58.2%) had positive IgG RF, 109 (71.2%) had positive IgM RF, whereas 122 (80.3%) RA patients tested positive for ACPA. Compared to the IgA RF-negative patients, IgA RF-positive patients exhibited higher disease activity and had higher RF titers. Seven (4.6%) patients had low BMD at femoral neck, 12 (7.8%) at total femur, and 47 (30.7%) at lumbar spine. IgA RF was found to be associated with protection against low BMD at spine (OR = 0.47, 95% CI = 0.23-0.95, p = 0.034). This association was further confirmed in the multivariate regression analysis taking into account several potential confounding factors (OR = 0.21, 95% CI = 0.06-0.65, p = 0.039). No association between low BMD and the presence of IgG RF or IgM RF or ACPA was found. CONCLUSION: IgA RF for the first time ever was shown to be associated with BMD preservation at spine in RA. Key points ⢠IgA RF was associated with protection against low spinal BMD. ⢠No association between low BMD and the presence of IgG RF or IgM RF was found.
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Artrite Reumatoide , Fator Reumatoide , Anticorpos Antiproteína Citrulinada , Densidade Óssea , Humanos , Imunoglobulina ARESUMO
OBJECTIVES: The aim of the study was to assess ultrasound (US) remission in patients with rheumatoid arthritis (RA) in clinical remission using different definitions. MATERIAL AND METHODS: This was a cross-sectional study including patients with RA in clinical remission defined by disease activity score (DAS28)-erythrocyte rate (ESR) ≤ 2.6 for at least 6 months. Each patient underwent B-mode and power Doppler (PD) assessments of 42 joints and 20 tendons. B-mode and PD signal for synovitis and tenosynovitis (TS) were defined and graded semi-quantitatively (0-3) according to the outcome measures in rheumatology clinical trials (OMERACT). Several different definitions of US remission were examined: the absence of synovial hypertrophy (SH), TS on B-mode and PD signal, the absence of SH and PD signal, a grade ≤ 1 of SH and the absence of PD, a grade ≤ 1 of SH and PD, the absence of PD, or a grade of PD ≤ 1. The DAS28, clinical disease activity index (CDAI), simple disease activity index (SDAI), and the Boolean American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) remission criteria were compared. RESULTS: Thirty-seven patients were enrolled. The rate of remission according to the different composite indices was 70.2% for the SDAI, 64.8% for the CDAI, and 54% for the ACR/EULAR Boolean criteria. Synovial hypertrophy and TS in B-mode were detected in 94.6% and 40.5% of patients, respectively. Synovitis with PD signal was found in 59.5% and 13.5% of patients had TS with PD, respectively. Ultrasound remission at joints and tendons was found in 5.4-62.2% of patients. For the other remission criteria: CDAI, SDAI, and ACR/EULAR Boolean criteria, 7.7-60% of patients showed US remission at joints and tendons. CONCLUSIONS: Clinical remission, even classified by strict composite indices, does not seem to be the closest method to the concept of absence of inflammatory activity; hence the interest of integrating US in assessing remission in practice.
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OBJECTIVES: We aimed to assess the safety and efficacy of tocilizumab as monotherapy or in combination with methotrexate in a routine clinical practice setting in Tunisian patients with RA who did not respond to conventional treatment with disease-modifying anti-rheumatic drugs (DMARDs-IR). METHOD: A total of 51 DMARDs-IR adult patients with moderate to severe RA participated in a phase IIIb, open-label clinical trial. Patients received 8 mg/kg of tocilizumab every 4 weeks in combination with a DMARD or as monotherapy during 24 weeks. The study was extended to 24 other weeks for those who had at least a moderate response at the end of the initial phase. Safety and efficacy of tocilizumab were analysed. RESULTS: Four patients discontinued treatment prematurely due to an adverse event. The most common AEs were hypercholesterolemia (18 cases), increased triglycerides (17 cases), increased transaminases (15 cases), rash (14 cases), neutropenia (7 cases), digestive disorders (3 cases) and respiratory disorders (3 cases). After 52 weeks, 90.5% of patients responded to treatment. At the end of the study, 61.9% of the patients had a mild RA and almost 50% of patients were in remission. Overall, 29.2, 6.3 and 4.3% of patients achieved ACR20, ACR50 and ACR70 responses, respectively. Additionally, the study showed a significant improvement in all individual parameters of ACR core data. CONCLUSIONS: Treatment with tocilizumab was well tolerated and showed a fast and sustained efficacy in Tunisian patients with moderate to severe active RA who had an inadequate response to DMARDs.Key Points⢠Up to 40% of RA patients remain inadequate responders to a prior csDMARD or a tumour necrosis factor α inhibitor (TNFi) biological agent. A non-TNF biological agent like tocilizumab with or without methotrexate is recommended in those patients.⢠In this study, tocilizumab treatment improved the number of responders, the number of patients in remission, and the evolution of disease activity. The meaningful clinical improvement seen denotes a rapid and sustained response to treatment.⢠Tocilizumab presented a favourable safety profile with few withdrawals due to AEs, consistently with what was observed in other trials.⢠This study provides new information about the safety and efficacy of tocilizumab in a patient population resembling that expected in clinical practice among the Tunisian population.
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Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Metotrexato/uso terapêutico , Adulto , Anticorpos Monoclonais Humanizados/efeitos adversos , Antirreumáticos/efeitos adversos , Esquema de Medicação , Quimioterapia Combinada , Feminino , Humanos , Masculino , Metotrexato/efeitos adversos , Pessoa de Meia-Idade , Resultado do Tratamento , TunísiaRESUMO
INTRODUCTION: Interleukin-1 receptor-associated kinases (IRAKs) are serine-threonine kinases involved in toll-like receptor and interleukin-1 signaling pathways. They play a key role in inflammation and innate immunity. IRAKs have been previously incriminated in autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis and inhibition of IRAKs has been recently regarded as a potential therapeutic strategy for SLE. OBJECTIVES: The aim of the present study was to test the association between IRAK2 rs708035 and rs3844283 with SLE. MATERIAL AND METHODS: IRAK2 rs708035 and rs3844283 were genotyped by mutagenically separated polymerase chain reaction (MS-PCR) in 142 SLE patients and 149 age- and gender-matched controls. RESULTS: The hyperfunctional IRAK2 rs708035 A allele was more frequent among SLE patients than controls (62.9% versus 54.7%, p = 0.046). IRAK2 rs3844283 C allele was present in 66.5% of patients and 75.5% of controls. The CC genotype was the most frequently exhibited genotype. It was carried by 45.1% of patients with SLE and 57.7% of controls. The G allele was associated with an increased risk of SLE (OR = 1.54, 95%, CI = 1.07-2.22, p = 0.017). IRAK2 rs708035 and IRAK2 rs3844283 were in linkage disequilibrium (D' = 0.64). The AG haplotype was more frequently observed in SLE patients than in controls (0.292 versus 0.194, p = 0.008). CONCLUSION: This study for the first time ever reveals the association of IRAK2 rs708035 and IRAK2 rs3844283 and the corresponding haplotypes with SLE. Our findings give additional rationale to target IRAKs in the treatment of SLE.Key Points⢠IRAK2 rs708035 A allele is more frequent in SLE patients than in controls and IRAK2 rs3844283 G allele is associated with SLE susceptibility.⢠These two alleles are in linkage disequilibrium.⢠The AG haplotype is associated with SLE.
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Quinases Associadas a Receptores de Interleucina-1/genética , Lúpus Eritematoso Sistêmico/genética , Adulto , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
OBJECTIVES: This study was aimed to investigate the association of the single nucleotide polymorphism of tumor necrosis factor receptor associated factor 6 (TRAF6), rs540386, with low bone mineral density (BMD) among patients with rheumatoid arthritis (RA). METHODS: TRAF6 rs540386 genotyping was performed by mutagenically separated PCR in a cohort of 188 (23 men, 165 women, median age, 56.2 years) adult RA patients and 224 age and gender-matched controls. BMD was measured using dual-energy X-ray absorptiometry (DXA) (Lunar Prodigy advance scans, GE Healthcare, USA). RESULTS: Among the RA patients, 64 (55 women, 9 men) had low BMD comprising of 57 patients with osteoporosis and 7 with osteopenia. Whereas TRAF6 rs540386 was not associated with RA susceptibility, it was however found to be a risk factor for reduced lumbar spine Z-score in the recessive model (OR = 3.34, 95% CI = (1.01-11.00), p = 0.038). This association was confirmed further in the multivariate logistic regression analysis taking into account several potential confounding factors (OR = 3.34 (1.01-11.00), p = 0.048). In addition, mean total femur Z-score was found to be reduced in TT patients when compared to CC + CT patients (- 1.30 ± 1.32 versus - 0.60 ± 1.05, p = 0.034). No association between TRAF6 rs540386 and local bone damage was observed. CONCLUSIONS: This study for the first time ever demonstrated an association between a genetic variant of TRAF6 and low BMD among patients with RA. Further investigations are needed to elucidate the exact role of this variant.
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Artrite Reumatoide/genética , Densidade Óssea/genética , Fêmur/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Fator 6 Associado a Receptor de TNF/genética , Absorciometria de Fóton , Adulto , Idoso , Alelos , Artrite Reumatoide/diagnóstico por imagem , Feminino , Colo do Fêmur/diagnóstico por imagem , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
BACKGROUND: Hip involvement in ankylosing spondylitis (AS) is a common extraspinal arthritic manifestation, which is associated to a worse functional outcome. Little data are available on the effectiveness of conservative treatment strategies. The TNF inhibitors have been proven effective on AS activity parameters. Their structural effect on hip disease however, little is studied. CASE PRESENTATION: We describe four new cases of reparative changes of a damaged hip joint after treatment with TNF inhibitors. The average of age was 32.5 (27- 36) years. There were 3 men and 1 woman. Hip involvement was bilateral in all cases. Etanercept was prescribed in 3 cases and infliximab in 1 case. At baseline, all patients had a painful and limited hip with high disease activity and an important functional impairment. After an average of 5.5 years of treatment with TNF inhibitors, the BASRI hip evaluated in antero-posterior x-rays of the pelvis remained unchanged at 2.4. The average of mean hip joint space was 2.9mm (2.3-3.6). A widening in hip joint space was observed in all cases with less subchondral cysts. CONCLUSION: TNF inhibitors seem to be effective on hip joint disease in patients with AS.
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Rheumatoid pneumoconiosis, also known as Caplan's syndrome is defined as the association between silicosis and rheumatoid arthritis (RA). It is a rare and usually diagnosed in an advanced stage of RA course. It affects generally patients with long exposure to silica. In this article, we report a case of Caplan's syndrome.
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The current study aimed to exhibit effects of judo training for at least 2 yr on bone mass parameters in growing boys. Our population was composed of one hundred and thirty boys in tanner stage 1 and aged 10.52 ± 0.86 yr. Eleven judo players were therefore, excluded from the study because they do not have participate regularly to the judo training sessions during the last 2 yr. The resting sample was divided into two groups: 50 judo players (JU group) and 69 controls (C group). Bone mineral density (BMD), bone mineral content (BMC), and bone area (BA) were evaluated by using dual-photon X-ray absorptiometry on weight-bearing sites: the whole body, lumbar spine (L2-L4), legs, femoral necks and hips and on the non-weight bearing sites: arms and radiuses. Our findings displayed that judo participation was markedly associated with greater values of bone mass parameters in young judo players than control group. Accordingly, the BMD and BA results exhibited significant differences in the whole body, legs, dominant total hip, arms and both whole radiuses in addition to the dominant femoral neck, the non-dominant total hip and except the non-dominant whole radius for the BMC parameter. Additionally, data of the subject within t test has shown significant differences of bone mass parameters only in the non weight-bearing sites in the judo players without any obvious variation in the controls. Differences of BMD observed on the dominant arm and whole radius in addition to the increased BMC values showed in the dominant whole radius compared with their contra-lateral sites in judo players without any marked variation of BA parameters in all sites in both groups. In growing boys, judo practice was obviously associated with osteogenic effects in specific sites.
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Densidade Óssea , Desenvolvimento Ósseo , Osso e Ossos/fisiologia , Artes Marciais/fisiologia , Absorciometria de Fóton , Osso e Ossos/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Colo do Fêmur/diagnóstico por imagem , Colo do Fêmur/fisiologia , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/fisiologia , Masculino , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/fisiologia , Suporte de CargaRESUMO
BACKGROUND: A distal interphalangeal (DIP) joint involvement in the adult-onset Still's disease (AOSD) has been described in some publications but is rarely reported to be severe. We report severe DIP joints damages in a young patient with AOSD. CASE REPORT: A 22 years old patient presented to our department complaining of inflammatory joints pain associated with prolonged fever and cutaneous rash. Physical examination identified polyarthritis and hepatosplenomegaly but no lymphadenopathies. After an extensive screening for neoplastic, infectious or hematologic diseases, the patient was finally diagnosed with AOSD. Treatment based on corticosteroids was then initiated with a good response on systemic signs. However, the patient continued to have recurrent arthritis affecting wrists and proximal interphalangeal joints. A Few years later, he developed a severe and disabling DIP arthritis with signs of joint destruction on conventional radiographs and MRI. Despite the initiation of methotrexate with optimal dosage, the patient continued to have polyarticular flares. The combination of methotrexate and sulfasalazine was responsible for drug-induced hepatotoxicity and this treatment was stopped. Anti-TNFα treatment was then indicated as general signs improved but severe joints damage persisted. Unfortunately, and due to healthcare system considerations, the patient was not able to benefit from TNFα inhibitors, and remained on methotrexate treatment only. Conculsion: The distal destructive arthritis during AOSD is rare and controversial. Our patient had a severe form with resistance to conventional therapies.
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Artrite/diagnóstico por imagem , Articulações dos Dedos/diagnóstico por imagem , Doença de Still de Início Tardio/diagnóstico por imagem , Corticosteroides/uso terapêutico , Antirreumáticos/uso terapêutico , Artrite/tratamento farmacológico , Artrite/etiologia , Articulações dos Dedos/efeitos dos fármacos , Humanos , Masculino , Metotrexato/uso terapêutico , Doença de Still de Início Tardio/complicações , Doença de Still de Início Tardio/tratamento farmacológico , Sulfassalazina/uso terapêutico , Resultado do Tratamento , Adulto JovemRESUMO
This study was performed to investigate the association of the single nucleotide polymorphisms of interleukin-1 receptor-associated kinase 2 (IRAK2) rs3844283 and rs708035 with rheumatoid arthritis (RA). IRAK2 rs3844283 and rs708035genotyping was determined by mutagenically separated PCR with specifically designed primers in a cohort of 222 (30 men, 192 women, mean age 49 years) adult RA patients and 224 matched controls. IRAK2 rs3844283 C allele was detected in 66% of RA patients and 74% of controls. The CC genotype was the most frequent genotype in both RA patients (45.5%) and the controls (56.3%). The G allele was found to be associated with RA susceptibility (OR = 1.47, 95% CI = 1.10-1.96, p = 0.008). The GG genotype was found to be associated with RA in the co-dominant and the dominant models (OR = 2.03, 95% CI = 1.08-3.81, p = 0.042 and OR = 1.54, 95% CI = 1.06-2.23, p = 0.023, respectively). IRAK2 rs708035 was found not to be in the Hardy-Weinberg equilibrium. The hyperfunctional IRAK2 rs708035 A allele was more frequent in RA patients than in controls (69.9 versus 62.2%, respectively, p = 0.015). Moreover, IRAK2 rs708035 and IRAK2 rs3844283 were in linkage disequilibrium and the GA haplotype was significantly more frequent in RA patients than in controls (p = 0.034). This study for the first time ever reports the association of IRAK2 rs3844283, IRAK2 rs708035, and the corresponding haplotypes with RA. Functional studies are recommended to elucidate the risk posed by the GA haplotype for the development of RA.
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Artrite Reumatoide/genética , Predisposição Genética para Doença , Quinases Associadas a Receptores de Interleucina-1/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
The skeleton is a common metastatic site for visceral carcinomas. However, the presentation of gastric cancer as bony metastases without preceding gastrointestinal symptoms is rare which has been infrequently reported in the literature. We report an infrequent case of a 60-year-old patient diagnosed having a gastric carcinoma with bone metastasis as the first evidence. She has consulted with worsening backache which started two months priorly.
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Dor nas Costas/etiologia , Neoplasias Ósseas/diagnóstico , Neoplasias Gástricas/diagnóstico , Neoplasias Ósseas/patologia , Neoplasias Ósseas/secundário , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Gástricas/patologiaRESUMO
BACKGROUND: Rheumatoid arthritis is an autoimmune inflammatory rheumatic disease that causes chronic synovial inflammation eventually leading to joint destruction and disability. The aim of this study was to determine the variations of hepatic proteins, myeloperoxidase, and iron in rheumatoid arthritis Tunisian patients and their implications in inflammation and in iron metabolism. METHODS: Overall, 172 patients from the Rheumatology Department of the University Hospital "Farhat Hached", Sousse-Tunisia between 2011 and 2012, with rheumatoid arthritis (97.1% women, average age: 48±13 yr) and 147 healthy volunteers (70.1% women, average age: 46± 7 yr) were included in this study. Serum hepatic proteins (high-sensitive C-reactive protein, ceruloplasmin, albumin, transferrin, α-1-acid glycoprotein and haptoglobin) were assessed by immunoturbidimetry (COBAS INTEGRA 400, Roche) and ferritin was measured by a microparticulate immunoenzymatic technic (AxSYM, ABBOTT, Germany), Plasma myeloperoxidase was determined by Enzyme-Linked Immunosorbent Assay. Serum iron was measured according to a colorimetric method at 595 nm (CX9-BECKMANN Coulter-Fuller-Ton, CA). RESULTS: Significantly higher levels of high-sensitive C-reactive protein, α-1-acid glycoprotein, Haptoglobin and myeloperoxidase in patients compared to controls (P<10-3). Albumin and iron rates were significantly decreased in patients compared to healthy group (P=0.026 and P<10-3, respectively). There were no differences between cases and controls for levels of ceruloplasmin, transferrin and ferritin (P=0.782, P=0.808, and P=0.175, respectively). CONCLUSION: The high-sensitive C-reactive protein, α-1-acid glycoprotein, and haptoglobin increased in acute phase proteins in rheumatoid arthritis disease. The pro-inflammatory cytokines affect iron metabolism leading to the iron deficiency and rheumatoid anemia, which influenced Tf and ferritin levels.
Assuntos
Artrite Juvenil/tratamento farmacológico , Processo Odontoide/diagnóstico por imagem , Membrana Sinovial/diagnóstico por imagem , Tuberculose da Coluna Vertebral/diagnóstico , Artrite Juvenil/complicações , Articulação Atlantoaxial , Humanos , Masculino , Cervicalgia/microbiologia , Tuberculose da Coluna Vertebral/complicações , Tuberculose da Coluna Vertebral/terapia , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto JovemRESUMO
Cellulitis is a frequent soft tissue and skin infection. The lower limbs are affected in 70 to 80% of cases. Cellulitis in aged persons is not yet well described in literature. A retrospective descriptive study conducted in the Internal Medicine Department of Sahloul hospital in Sousse in Tunisia. It included patients whose age was up to 65 years old admitted into hospital for cellulitis of the legs, the arms or the face. One hundred fifty eight patients with a mean age of 73 years old (range: 65 to 94 years old) were included. Female to male sex ratio was 0.68. Among them, we noted diabetes mellitus in 81 cases (50.6%). The infection was located in the lower limbs in 155 cases (98%), in the face in two cases (1.3%) and in the upper limb in one case (0.7%). Twenty one patients (13.3%) presented with severe cellulitis and one presented with necrotizing fasciitis. All patients received intra venous antibiotic therapy. Surgical treatment was indicated in 14 cases. Cefazolin was prescribed in 77 cases (48%). Favorable evolution was noted in 144 patients (91.1%). Forty four patients (27.8%) received prophylactic antibiotics. Prevention of skin and soft tissue infection is a crucial step to preserve health in aged persons.