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3.
Elife ; 72018 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-29537367

RESUMO

Most humans are exposed to Tropheryma whipplei (Tw). Whipple's disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), whereas asymptomatic chronic carriage is more common (<25%). We studied a multiplex kindred, containing four WD patients and five healthy Tw chronic carriers. We hypothesized that WD displays autosomal dominant (AD) inheritance, with age-dependent incomplete penetrance. We identified a single very rare non-synonymous mutation in the four patients: the private R98W variant of IRF4, a transcription factor involved in immunity. The five Tw carriers were younger, and also heterozygous for R98W. We found that R98W was loss-of-function, modified the transcriptome of heterozygous leukocytes following Tw stimulation, and was not dominant-negative. We also found that only six of the other 153 known non-synonymous IRF4 variants were loss-of-function. Finally, we found that IRF4 had evolved under purifying selection. AD IRF4 deficiency can underlie WD by haploinsufficiency, with age-dependent incomplete penetrance.


Assuntos
Haploinsuficiência/genética , Fatores Reguladores de Interferon/genética , Tropheryma/genética , Doença de Whipple/genética , Idoso , Idoso de 80 Anos ou mais , Feminino , Predisposição Genética para Doença/genética , Humanos , Leucócitos/microbiologia , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Penetrância , Tropheryma/patogenicidade , Doença de Whipple/microbiologia , Doença de Whipple/patologia
4.
Ann Phys Rehabil Med ; 59(4): 255-62, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27452634

RESUMO

BACKGROUND: The McMaster-Toronto Arthritis Patient Preference Disability Questionnaire (MACTAR) measurement of function may be more comprehensive and add useful information about disability than traditional fixed-item questionnaires, especially about issues that really matter to the patient, for developing personalized medicine. OBJECTIVES: We aimed to assess priorities in disability and restriction in participation in patients with disabling knee osteoarthritis (OA) by the MACTAR and evaluate its validity and responsiveness. METHODS: We evaluated 127 in- and outpatients with knee OA in two tertiary care teaching hospitals between August 2010 and July 2012 by using the MACTAR, the Western Ontario and McMaster Universities Osteoarthritis Index, Lequesne scale, Fear Avoidance Beliefs Questionnaire, a life satisfaction score and pain, global assessment of disease activity and functional impairment scores on a numerical rating scale. Validity was assessed by Pearson correlation and responsiveness by the standardized response mean (SRM) and effect size (ES). RESULTS: Patients ranked 35 different activities by the MACTAR; the 3 domains of the International Classification of Functioning, Disability and Health most often identified were mobility (cited 233 times, 52.3%); community, social and civic life (cited 122 times, 27.4%); and domestic life (cited 64 times, 14.4%). The MACTAR score was best correlated with functional impairment (r=0.5). Convergent and divergent validity was as expected. In all, 108 patients completed a 6-month follow-up evaluation: 27 patients shifted their priorities at 6 months, for a decrease in SRM and ES. The SRM (0.64) and ES (0.92) for the MACTAR without shifts in priorities were the highest among the outcome measures tested; for patients considering their condition improved, the values were 0.85 and 1.17, respectively. CONCLUSIONS: For assessing priorities in disability and restriction in participation among patients with knee OA, the MACTAR has acceptable validity and responsiveness.


Assuntos
Avaliação da Deficiência , Osteoartrite do Joelho/psicologia , Preferência do Paciente , Inquéritos e Questionários/normas , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Prioridades em Saúde , Humanos , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/fisiopatologia , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Índice de Gravidade de Doença
5.
Joint Bone Spine ; 81(2): 142-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23845381

RESUMO

OBJECTIVE: To determine (i) clinicoradiological presentation and outcome of rapidly destructive knee osteoarthritis (RDKOA) after global medical treatment including knee lavage plus corticosteroid injection, (ii) predisposing factors of subsequent requirement to knee surgery. METHODS: Retrolective monocenter study with tibiofemoral RDKOA, defined as a loss of at least 50% of joint space width within 1 year, with a post lavage follow-up of at least 1 year. RESULTS: One hundred and eleven patients were enrolled, age 64.1 years, BMI: 28.9, 70.3% female. VAS pain was 56.1mm, Lequesne index: 11.9, WOMAC function score: 51.9. Chronic mechanical effusion (216 white cells/mm3) was aspirated in 102 patients (91.9%), lasting more than 6 months in 71.4%. Medial tibiofemoral compartment was concerned in 79.3%. Joint space loss reached 52.2% in extension and 71.0% in semi-flexed position within a mean 7.3-month period. Radiological chondrocalcinosis was present in 13.5% and osteonecrosis in 12.6%. Lavage (one liter, two 14-gauge cannulae) plus corticosteroid was completed by hyaluronic acid injections in 71.2% of patients. Eighty-nine patients were reviewed with a mean follow-up period of 55.0 months. Thirty-seven (41.6%) required surgery. Mean delay between lavage and surgery was 16.1 months. Pain was acceptable in 100.0% of operated patients and 87.8% of non-operated patients. Multivariate regression analysis determined that functional impairment, assessed by the maximal walking time, and radiological severity in extension were baseline predisposing factors of subsequent requirement to surgery. CONCLUSION: The outcome of RDKOA seems less severe than expected after global medical treatment.


Assuntos
Glucocorticoides/administração & dosagem , Osteoartrite do Joelho/diagnóstico , Osteoartrite do Joelho/terapia , Idoso , Causalidade , Feminino , Humanos , Ácido Hialurônico/administração & dosagem , Injeções Intra-Articulares , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/fisiopatologia , Estudos Retrospectivos , Irrigação Terapêutica , Resultado do Tratamento , Viscossuplementos/administração & dosagem
6.
Semin Arthritis Rheum ; 40(6): 539-46, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20884045

RESUMO

OBJECTIVES: Pigmented villonodular synovitis (PVNS) is a rare but disabling disease. The objective was to describe the clinical presentation and outcomes of PVNS according to its localization. METHODS: Retrospective, systematic study of all cases of biopsy-proven PVNS followed in 1 tertiary-care center specialized in isotopic synoviorthesis. Cases were selected by keyword. Collected data included disease localization, therapeutic modalities, and outcomes. RESULTS: A total of 122 cases (mean age 33.0 ± 13.1 years, 58% female, 89% diffuse form) of histologically confirmed PVNS were analyzed with a mean follow-up of 5.8 ± 4.3 years (707 patient-years total). The main localizations were the knee (75%) and ankle (16%). Clinical presentation included joint pain (80%) and joint effusion (79%) with hemarthrosis (75% of analyzed articular fluid). The mean delay before diagnosis was 2.9 ± 3.7 years. Magnetic resonance imaging was helpful for diagnosis in 83%. Surgical synovectomy was initially performed in 98% of cases and was often associated with isotopic synoviorthesis (knee: 57%; other localizations: 74%). In patients with a diffuse form treated at first line by surgery followed by isotopic synoviorthesis, the relapse rate was 30% (knee) and 9% (other localizations), respectively, with a mean delay before relapse of 2.6 ± 2.4 and 2.4 ± 0.9 years, respectively. CONCLUSIONS: PVNS occurs in young adults, mainly in the knee joint; joint pain and effusion with hemarthrosis are the most frequent signs. Relapse is frequent, in particular, for diffuse knee PVNS; the usefulness of isotopic synoviorthesis remains to be confirmed.


Assuntos
Hemartrose/diagnóstico , Hidrartrose/diagnóstico , Articulações/patologia , Sinovite Pigmentada Vilonodular/diagnóstico , Adulto , Artrografia , Biópsia , Feminino , Hemartrose/etiologia , Hemartrose/terapia , Humanos , Hidrartrose/etiologia , Hidrartrose/terapia , Injeções Intra-Articulares , Articulações/fisiopatologia , Masculino , Radioisótopos/uso terapêutico , Recidiva , Estudos Retrospectivos , Sinovectomia , Membrana Sinovial/patologia , Sinovite Pigmentada Vilonodular/complicações , Sinovite Pigmentada Vilonodular/terapia , Resultado do Tratamento
7.
Arthritis Res Ther ; 11(3): R99, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19563633

RESUMO

INTRODUCTION: Rheumatoid arthritis (RA) is a heterogeneous disease and its underlying molecular mechanisms are still poorly understood. Because previous microarray studies have only focused on long-standing (LS) RA compared to osteoarthritis, we aimed to compare the molecular profiles of early and LS RA versus control synovia. METHODS: Synovial biopsies were obtained by arthroscopy from 15 patients (4 early untreated RA, 4 treated LS RA and 7 controls, who had traumatic or mechanical lesions). Extracted mRNAs were used for large-scale gene-expression profiling. The different gene-expression combinations identified by comparison of profiles of early, LS RA and healthy synovia were linked to the biological processes involved in each situation. RESULTS: Three combinations of 719, 116 and 52 transcripts discriminated, respectively, early from LS RA, and early or LS RA from healthy synovia. We identified several gene clusters and distinct molecular signatures specifically expressed during early or LS RA, thereby suggesting the involvement of different pathophysiological mechanisms during the course of RA. CONCLUSIONS: Early and LS RA have distinct molecular signatures with different biological processes participating at different times during the course of the disease. These results suggest that better knowledge of the main biological processes involved at a given RA stage might help to choose the most appropriate treatment.


Assuntos
Artrite Reumatoide/genética , Artrite Reumatoide/patologia , Perfilação da Expressão Gênica/métodos , Líquido Sinovial/química , Líquido Sinovial/fisiologia , Adulto , Artrite Reumatoide/metabolismo , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Análise em Microsséries/métodos , Pessoa de Meia-Idade , Líquido Sinovial/metabolismo , Fatores de Tempo , Adulto Jovem
8.
J Rheumatol ; 33(7): 1243-6, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16622906

RESUMO

OBJECTIVE: To determine in clinical practice which clinical status variables for rheumatoid arthritis (RA) are most closely associated with a change in disease modifying antirheumatic drug (DMARD) therapy. METHODS: A prospective monocenter study was conducted in 204 consecutive patients with RA. Rheumatologists recorded patient characteristics, treatments, and disease activity data [tender and swollen joint count (28), morning stiffness, visual analog scale (VAS) for pain (0-100 mm), patient global assessment and physician global assessment, Westergren erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP)]. The rheumatologists decided whether or not to initiate or change treatment but were not informed that their decisions were part of the investigation. Logistic regression analysis was performed to evaluate which study variables best predict change in therapy. ROC analysis was used to obtain the cutoff value of the different composite indices (DAS28(ESR), DAS28(CRP), SDAI) for treatment change, as well as sensitivity and specificity. RESULTS: The variables that were predictive for a change in treatment were (in descending order): swollen joint count, morning stiffness, CRP, tender joint count, and patient global assessment. Composite index values associated with a decision to modify DMARD therapy were: DAS28(ESR) 4.2 (sensitivity 87%, specificity 70%); DAS28(CRP) 3.6 (sensitivity 86%, specificity 78%); and SDAI 15 (sensitivity 90%, specificity 86%). The discriminative ability of SDAI was better than that of DAS28(CRP) or DAS28(ESR). CONCLUSION: In our study, swollen joint count was the variable with the greatest weight, which explains the observed better performance of SDAI.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Reumatoide , Avaliação da Deficiência , Reumatologia/métodos , Índice de Gravidade de Doença , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/fisiopatologia , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC
9.
Joint Bone Spine ; 73(1): 66-71, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16256393

RESUMO

OBJECTIVE: To determine whether an intraarticular glucocorticoid injection followed, when possible, by weight-bearing elimination using two crutches reduces the need for total hip arthroplasty (THA) in patients with rapidly destructive hip osteoarthritis (RDHOA). METHODS: A longitudinal retrospective study was conducted in patients admitted for RDHOA, defined as loss of more than 50% of the joint space at the narrowest point between two evaluations 1 year apart. A glucocorticoid injection was performed under fluoroscopic guidance. Patients stayed in bed for the next 24 h then used crutches for 4-6 weeks. Follow-up was at least 6 months. The efficacy criterion was absence of THA. RESULTS: Twenty-eight patients (22 women) were enrolled between 1993 and 2000. Mean age was 62 years, mean body mass index was 26 kg/m(2), mean Lequesne index was 11, and mean joint space width was 1.3 mm. Narrowing was superolateral in 19 of the 28 patients. Cortivazol was injected in seven patients, betamethasone in four, and triamcinolone hexacetonide in 17. Weight-bearing elimination for at least 4 weeks was achieved in 15 patients. THA was performed in 27 patients, including 20 who underwent the procedure within the year after the glucocorticoid injection. CONCLUSION: Intraarticular glucocorticoid injection with or without elimination of weight-bearing does not reduce the need for THA in patients with RDHOA.


Assuntos
Glucocorticoides/administração & dosagem , Osteoartrite do Quadril/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Seguimentos , Glucocorticoides/uso terapêutico , Humanos , Injeções Intra-Articulares , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Quadril/fisiopatologia , Radiografia , Estudos Retrospectivos , Resultado do Tratamento , Suporte de Carga/fisiologia
10.
Best Pract Res Clin Rheumatol ; 19(3): 401-15, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15939366

RESUMO

Arthroscopy is used by rheumatologists for research purposes in cases with knee osteoarthritis and inflammatory arthritis. This chapter explains the technical characteristics of 'research arthroscopy' including the simplification of the procedure, video-recording, as well as risks and training. Lavage of the knee joint is proposed as a treatment procedure for osteoarthritis and inflammatory and septic arthritis. Tidal irrigation and the two-needle technique of lavage are described. In the absence of clear predictive factors for efficacy, the indications for these techniques are a matter of debate.


Assuntos
Artroscopia/métodos , Artropatias/diagnóstico , Irrigação Terapêutica/métodos , Ensaios Clínicos como Assunto , Humanos , Articulações/patologia , Articulações/cirurgia
11.
Arthritis Rheum ; 53(2): 284-92, 2005 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-15818652

RESUMO

OBJECTIVE: To assess the impact of ultrasonography (US) on local corticosteroid (CS) injections of painful ankle, hindfoot, and midfoot in chronic inflammatory diseases. METHODS: Consecutive patients with chronic rheumatic diseases admitted to the hospital for local CS injections of painful ankle, hindfoot, or midfoot were enrolled in this study. Clinical and radiographic evaluation was performed by the physician in charge of CS injections, and US examination was performed by an independent examiner blinded to the clinical and radiologic findings. According to a randomized weekly-periods design, the physician planned CS injections either aware (G1 group) or unaware (G2 group) of US results. In the latter case, he was nonetheless informed of US results after he had performed the injections. Impact of this information on the treatment planning was assessed in all cases. Prognostic impact of US was also evaluated by comparing the change in global assessment of efficacy of CS injections, in activity of the disease, and in the Western Ontario and McMaster Universities (WOMAC) subscales after 1 and 3 months, between G1 and G2 groups. RESULTS: The knowledge of US findings led the physician to change his decision of local CS injections in 56 (82%) of 68 patients studied. Among 1,131 assessed sites, by clinical, radiographic, and US evaluation, injection was cancelled in 37 (15%) of 242 proposed sites, whereas it was decided in 74 (8%) additional sites. After 1 month, there was an improvement in G1 as compared with G2 groups. The mean +/- SD change in WOMAC physical function subscale was 15.6 +/- 17.5 in G1 versus 8 +/- 13 in G2 (P = 0.0305). After 3 months, only the global assessment of efficacy of CS injections was statistically greater in G1 than in G2 group (P = 0.0170). CONCLUSION: US frequently led the physician to change his diagnosis of inflammatory lesions in painful foot, and consequently his planning of CS injections. Moreover, US could improve the response to local treatment.


Assuntos
Artrite Reumatoide/tratamento farmacológico , Pé/diagnóstico por imagem , Glucocorticoides/uso terapêutico , Dor/tratamento farmacológico , Espondiloartropatias/tratamento farmacológico , Ultrassonografia , Artrite Reumatoide/complicações , Artrite Reumatoide/fisiopatologia , Glucocorticoides/administração & dosagem , Humanos , Injeções Intra-Articulares , Dor/etiologia , Índice de Gravidade de Doença , Espondiloartropatias/complicações , Espondiloartropatias/fisiopatologia , Resultado do Tratamento
12.
Joint Bone Spine ; 72(2): 119-23, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15797490

RESUMO

Rheumatoid arthritis is the most common of all chronic inflammatory joint diseases. Treatment should be initiated early, if possible within the first six months after symptom onset, and should be selected according to the potential for disease progression. Early initiation of combination drug therapy may improve quality of life and long-term outcomes. We used data from a comprehensive literature review to develop a diagnostic and therapeutic strategy for incipient undifferentiated inflammatory joint disease.


Assuntos
Artrite/diagnóstico , Artrite/terapia , Reumatologia/tendências , Humanos
13.
Arthritis Rheum ; 46(10): 2613-24, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12384919

RESUMO

OBJECTIVE: The hallmark of osteoarthritis (OA) is the loss of articular cartilage. This loss arises from an imbalance between cartilage synthesis and cartilage degradation over a variable period of time. The aims of this study were to investigate the rates of these processes in patients with knee OA using two new molecular markers and to investigate whether the combined use of these markers could predict the progression of joint damage evaluated by both radiography and arthroscopy of the joints during a period of 1 year. METHODS: Seventy-five patients with medial knee OA (51 women, 24 men; mean +/- SD age 63 +/- 8 years, mean +/- SD disease duration 4.8 +/- 5.2 years) were studied prospectively. At baseline, we measured serum levels of N-propeptide of type IIA procollagen (PIIANP) and urinary excretion of C-terminal crosslinking telopeptide of type II collagen (CTX-II) as markers of type II collagen synthesis and degradation, respectively. Joint space width (JSW) on radiography and medial chondropathy at arthroscopy (assessed using a 100-mm visual analog scale [VAS]) were measured in all patients at baseline and in 52 patients at 1 year. Progression of joint destruction was defined as a decrease of > or =0.5 mm in JSW on radiography and as increased chondropathy (an increase in the VAS score of >8.0 units) between the baseline and 1-year evaluations. RESULTS: At baseline, compared with 58 healthy age- and sex-matched controls, patients with knee OA had decreased serum levels of PIIANP (20 ng/ml versus 29 ng/ml; P < 0.001) and increased urinary excretion of CTX-II (618 ng/mmole creatinine [Cr] versus 367 ng/mmole Cr; P < 0.001). The highest discrimination between OA patients and controls was obtained by combining PIIANP and CTX-II in an uncoupling index (Z score CTX-II - Z score PIIANP), which yielded a mean Z score of 2.9 (P < 0.0001). Increased baseline values in the uncoupling index were associated with greater progression of joint damage evaluated either by changes in JSW (r = -0.46, P = 0.0016) or by VAS score (r = 0.36, P = 0.014). Patients with both low levels of PIIANP (less than or equal to the mean - 1 SD in controls) and high levels of CTX-II (greater than or equal to the mean + 1 SD in controls) had an 8-fold more rapid progression of joint damage than other patients (P = 0.012 and P < 0.0001 as assessed by radiography and arthroscopy, respectively) and had relative risks of progression of 2.9 (95% confidence interval [95% CI] 0.80-11.1) and 9.3 (95% CI 2.2-39) by radiography and arthroscopy, respectively. CONCLUSION: Patients with knee OA are characterized by an uncoupling of type II collagen synthesis and degradation which can be detected by assays for serum PIIANP and urinary CTX-II. The combination of these two new markers could be useful for identifying knee OA patients at high risk for rapid progression of joint damage.


Assuntos
Colágeno Tipo II/biossíntese , Colágeno Tipo II/metabolismo , Osteoartrite do Joelho/sangue , Idoso , Biomarcadores , Proteínas de Ligação ao Cálcio/sangue , Cartilagem Articular/metabolismo , Cartilagem Articular/patologia , Colágeno/sangue , Progressão da Doença , Feminino , Humanos , Articulação do Joelho/metabolismo , Articulação do Joelho/patologia , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/patologia , Fragmentos de Peptídeos/sangue , Valor Preditivo dos Testes , Pró-Colágeno/sangue
14.
Arthritis Rheum ; 47(4): 380-2, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12209483

RESUMO

OBJECTIVE: To investigate the impact of video information on preoperative anxiety of patients scheduled to undergo joint lavage for knee osteoarthritis, and tolerability of the lavage. METHODS: A video film on joint lavage (duration 4 minutes, 20 seconds) was made by medical communication professionals, based on recommendations of the medical and paramedical staff of the Institute of Rheumatology. Patients diagnosed with knee osteoarthritis and scheduled for lavage were assigned, using a preestablished list of randomization, to either the video group or the no-video group. In the operating room, preoperative anxiety level was measured on a 100-mm visual analog scale (VAS), and tolerability was assessed using a 4-grade scale. RESULTS: One hundred twelve patients (56 patients in each group) were included and completed the trial. Preoperative anxiety was lower by half for patients who had viewed the video (VAS 13 +/- 20 versus 26 +/- 27; P = 0.0056). Tolerability of knee lavage was also significantly better in the video group (very tolerable 91% versus 48%; P < 0.0001). CONCLUSION: This prospective, controlled, randomized study confirms the usefulness of video information prior to an invasive rheumatology procedure.


Assuntos
Ansiedade/prevenção & controle , Osteoartrite do Joelho/cirurgia , Educação de Pacientes como Assunto/métodos , Cuidados Pré-Operatórios , Gravação de Videoteipe , Ansiedade/psicologia , Feminino , Humanos , Articulação do Joelho/cirurgia , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/psicologia , Estudos Prospectivos , Irrigação Terapêutica , Resultado do Tratamento
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