RESUMEN
Blau syndrome is an autosomal dominant chronic inflammatory disease, which may begin with skin manifestations in the first months of life, alerting physicians to the diagnosis. This case reports a patient diagnosed jointly by pediatric dermatology and rheumatology consultants at two years of age.
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Artritis , Sarcoidosis , Sinovitis , Uveítis , Humanos , Sinovitis/genética , Sinovitis/diagnóstico , Uveítis/diagnóstico , Sarcoidosis/diagnóstico , Sarcoidosis/patología , Artritis/diagnóstico , Preescolar , Masculino , Femenino , Artritis Infecciosa/diagnóstico , Enfermedades Autoinflamatorias HereditariasRESUMEN
BACKGROUND: Although normal acute phase reactants (APRs) play an important role in assessing disease activity of rheumatoid arthritis (RA), some studies pointed out the discordance between disease activity and APR level. Neutrophil-to-lymphocyte ratios (NLRs), platelet-to-lymphocyte ratios (PLRs) and lymphocyte-to-monocyte ratios (LMRs) have been reported to be sensitive measures of inflammatory reaction. This study aims to explore the value of these haematological makers in assessment of APR-negative RA patients. METHODS: Out of a cohort of 418 consecutive patients with RA, we enrolled 135 patients with normal APR for this study. We performed ultrasound assessments to evaluate synovitis and bone erosion in the affected joints. Synovitis was evaluated by ultrasound grey scale (GS) and power Doppler (PD) with semi-quantitative scoring (0-3). Demographic, clinical and laboratory data were collected from the patients. Disease Activity Score-28 joints (DAS28), NLR, MLR and PLR were calculated. RESULTS: In RA patients with normal APR, PLR exhibited a positive correlation with ultrasound-detected synovitis and bone erosion, whereas NLR, MLR showed no significant correlation with ultrasonography parameters. The area under the ROC curve (AUC) for identifying synovitis with a GS grade ≥2 based on a PLR cutoff value of ≥159.6 was 0.7868 (sensitivity: 80.95%, specificity: 74.24%). For synovitis with a PD grade ≥2, the AUC was 0.7690, using a PLR cutoff value of ≥166.1 (sensitivity: 68.0%, specificity: 83.87%). CONCLUSIONS: Our findings suggested that PLR might be a reliable and cost-effective marker for identifying moderate-to-severe synovitis in RA patients with normal APR.
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Artritis Reumatoide , Biomarcadores , Linfocitos , Sinovitis , Humanos , Sinovitis/diagnóstico por imagen , Sinovitis/sangre , Sinovitis/diagnóstico , Artritis Reumatoide/sangre , Artritis Reumatoide/diagnóstico por imagen , Artritis Reumatoide/complicaciones , Femenino , Masculino , Persona de Mediana Edad , Biomarcadores/sangre , Adulto , Plaquetas , Proteínas de Fase Aguda/análisis , Anciano , Índice de Severidad de la Enfermedad , Recuento de Plaquetas , Curva ROC , Recuento de Linfocitos , NeutrófilosRESUMEN
The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases.
Asunto(s)
Artritis , Mutación , Proteína Adaptadora de Señalización NOD2 , Linaje , Sarcoidosis , Sinovitis , Uveítis , Humanos , Artritis/genética , Artritis/diagnóstico , Artropatía Neurógena/genética , Artropatía Neurógena/diagnóstico , Enfermedades del Sistema Nervioso Central , Secuenciación del Exoma , Enfermedades Autoinflamatorias Hereditarias , Linfedema/genética , Linfedema/diagnóstico , Proteína Adaptadora de Señalización NOD2/genética , Sarcoidosis/genética , Sarcoidosis/diagnóstico , Sinovitis/genética , Sinovitis/diagnóstico , Uveítis/genética , Uveítis/diagnósticoRESUMEN
OBJECTIVES: To train, test and validate the performance of a convolutional neural network (CNN)-based approach for the automated assessment of bone erosions, osteitis and synovitis in hand MRI of patients with inflammatory arthritis. METHODS: Hand MRIs (coronal T1-weighted, T2-weighted fat-suppressed, T1-weighted fat-suppressed contrast-enhanced) of rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients from the rheumatology department of the Erlangen University Hospital were assessed by two expert rheumatologists using the Outcome Measures in Rheumatology-validated RA MRI Scoring System and PsA MRI Scoring System scores and were used to train, validate and test CNNs to automatically score erosions, osteitis and synovitis. Scoring performance was compared with human annotations in terms of macro-area under the receiver operating characteristic curve (AUC) and balanced accuracy using fivefold cross-validation. Validation was performed on an independent dataset of MRIs from a second patient cohort. RESULTS: In total, 211 MRIs from 112 patients (14 906 region of interests (ROIs)) were included for training/internal validation using cross-validation and 220 MRIs from 75 patients (11 040 ROIs) for external validation of the networks. The networks achieved high mean (SD) macro-AUC of 92%±1% for erosions, 91%±2% for osteitis and 85%±2% for synovitis. Compared with human annotation, CNNs achieved a high mean Spearman correlation for erosions (90±2%), osteitis (78±8%) and synovitis (69±7%), which remained consistent in the validation dataset. CONCLUSIONS: We developed a CNN-based automated scoring system that allowed a rapid grading of erosions, osteitis and synovitis with good diagnostic accuracy and using less MRI sequences compared with conventional scoring. This CNN-based approach may help develop standardised cost-efficient and time-efficient assessments of hand MRIs for patients with arthritis.
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Aprendizaje Profundo , Imagen por Resonancia Magnética , Osteítis , Sinovitis , Humanos , Osteítis/diagnóstico por imagen , Osteítis/etiología , Osteítis/diagnóstico , Osteítis/patología , Sinovitis/diagnóstico por imagen , Sinovitis/etiología , Sinovitis/diagnóstico , Imagen por Resonancia Magnética/métodos , Masculino , Femenino , Persona de Mediana Edad , Artritis Reumatoide/diagnóstico por imagen , Artritis Reumatoide/complicaciones , Mano/diagnóstico por imagen , Mano/patología , Artritis Psoriásica/diagnóstico por imagen , Artritis Psoriásica/diagnóstico , Adulto , Anciano , Curva ROC , Índice de Severidad de la Enfermedad , Redes Neurales de la ComputaciónRESUMEN
BACKGROUND: Non-synovial inflammation as detected by MRI is characteristic in polymyalgia rheumatica (PMR) with potentially high diagnostic value. OBJECTIVE: The objective is to describe inflammatory MRI findings in the shoulder girdle of patients with PMR and discriminate from other causes of shoulder girdle pain. METHODS: Retrospective study of 496 contrast-enhanced MRI scans of the shoulder girdle from 122 PMR patients and 374 non-PMR cases. Two radiologists blinded to clinical and demographic information evaluated inflammation at six non-synovial plus three synovial sites for the presence or absence of inflammation. The prevalence of synovial and non-synovial inflammation, both alone and together with clinical information, was tested for its ability to differentiate PMR from non-PMR. RESULTS: A high prevalence of non-synovial inflammation was identified as striking imaging finding in PMR, in average 3.4±1.7, mean (M)±SD, out of the six predefined sites were inflamed compared with 1.1±1.4 (M±SD) in non-PMR group, p<0.001, with excellent discriminatory effect between PMR patients and non-PMR cases. The prevalence of synovitis also differed significantly between PMR patients and non-PMR cases, 2.5±0.8 (M±SD) vs 1.9±1.1 (M±SD) out of three predefined synovial sites, but with an inferior discriminatory effect. The detection of inflammation at three out of six predefined non-synovial sites differentiated PMR patients from controls with a sensitivity/specificity of 73.8%/85.8% and overall better performance than detection of synovitis alone (sensitivity/specificity of 86.1%/36.1%, respectively). CONCLUSION: Contrast-enhanced MRI of the shoulder girdle is a reliable imaging tool with significant diagnostic value in the assessment of patients suffering from PMR and differentiation to other conditions for shoulder girdle pain.
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Imagen por Resonancia Magnética , Polimialgia Reumática , Humanos , Polimialgia Reumática/diagnóstico , Polimialgia Reumática/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Femenino , Masculino , Anciano , Estudios Retrospectivos , Persona de Mediana Edad , Sinovitis/diagnóstico por imagen , Sinovitis/diagnóstico , Sinovitis/etiología , Sinovitis/patología , Anciano de 80 o más Años , Inflamación/diagnóstico por imagen , Inflamación/diagnóstico , Hombro/diagnóstico por imagen , Hombro/patología , Diagnóstico Diferencial , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is considered a rare inflammatory rheumatologic disorder that is seen primarily in older adult men. Patients present with arthralgias of large joints accompanied by painful pitting edema of the hands and feet. Few studies have reported the prevalence of metabolic syndromes, including diabetes mellitus and hyperlipidemia in these patients. METHODS: This case series reviewed 25 patients who were diagnosed as having RS3PE in a private outpatient clinic. RESULTS: Nearly half of the patients (48%) had diabetes mellitus, predominantly type 2, and more than half of the patients (60%) had hyperlipidemia. CONCLUSIONS: We believe that future case studies on RS3PE should include an assessment of various comorbidities that can be seen in patients with this autoinflammatory disorder. The increased availability of musculoskeletal ultrasound provides a potential area of study to differentiate this disorder from other inflammatory arthritis and improve reaching the correct diagnosis.
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Edema , Sinovitis , Humanos , Masculino , Sinovitis/diagnóstico , Sinovitis/epidemiología , Sinovitis/complicaciones , Edema/epidemiología , Edema/diagnóstico , Edema/etiología , Persona de Mediana Edad , Femenino , Anciano , Adulto , Hiperlipidemias/epidemiología , Hiperlipidemias/complicaciones , Comorbilidad , Estudios Retrospectivos , Anciano de 80 o más Años , Diabetes Mellitus Tipo 2/complicacionesRESUMEN
Gene therapy and universal use of safer, more effective, and personalised prophylactic regimens (factor, and nonfactor) are expected to prevent joint bleeding and promote joint health in persons with haemophilia (PwH). Growing evidence suggests that subclinical bleeding, with active and inactive synovial proliferation, continues and haemophilic arthropathy remains a major morbidity in PwH despite early institution of joint prophylaxis. Joint health assessment is evolving with physical examination scores complementing imaging scores. Point-of-care ultrasound is emerging as a safe, cost-effective, and readily available tool for acute determination of musculoskeletal abnormalities, serial evaluation of joints for sonographic markers of haemophilic arthropathy, and in providing objective insight into the efficacy of new therapies. In acute haemarthrosis, arthrocentesis expedites recovery and prevent the vicious cycle of bleed-synovitis-rebleed. When synovial proliferation develops, a multidisciplinary team approach is critical with haematology, orthopaedics, and physiotherapy involvement. Synovectomy is considered for patients with chronic synovitis that fail conservative management. Non-surgical and minimally invasive procedures should always be offered and considered first. Careful patient selection, screening and early intervention increase the success of these interventions in reducing bleeding, pain, and improving joint function and quality of life. Chemical synovectomy is practical in developing countries, but radioactive synovectomy appears to be more effective. When surgical synovectomy is considered, arthroscopic/minimally invasive approach should be attempted first. In advanced haemophilic arthropathy, joint replacement and arthrodesis can be considered. While excited about the future of haemophilia management, navigating musculoskeletal challenges in the aging haemophilia population is equally important.
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Artritis , Hemofilia A , Sinovitis , Humanos , Hemofilia A/complicaciones , Hemofilia A/terapia , Hemofilia A/diagnóstico , Calidad de Vida , Hemartrosis/diagnóstico , Hemartrosis/etiología , Hemartrosis/terapia , Sinovitis/diagnóstico , Sinovitis/etiología , Sinovitis/terapia , Envejecimiento , ArtrodesisRESUMEN
ABSTRACT: Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis. We present a case of a 37-year-old male patient with a long-documented history of juvenile idiopathic arthritis and uveitis, who developed an asymptomatic eruption of pink papules on the trunk and upper extremities. A biopsy demonstrated noncaseating, well-formed dermal granulomas with relatively sparse lymphocytic inflammation and Langerhans-type giant cells. Genetic testing confirmed a mutation in NOD2. Based on the patient's clinical history, histologic findings, genetic testing, the diagnosis of Blau syndrome was made.
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Artritis , Proteína Adaptadora de Señalización NOD2 , Sarcoidosis , Sinovitis , Uveítis , Humanos , Masculino , Uveítis/genética , Uveítis/diagnóstico , Artritis/genética , Artritis/diagnóstico , Sinovitis/genética , Sinovitis/patología , Sinovitis/diagnóstico , Adulto , Proteína Adaptadora de Señalización NOD2/genética , Sarcoidosis/genética , Sarcoidosis/diagnóstico , Sarcoidosis/patología , Dermatitis/genética , Dermatitis/patología , Dermatitis/diagnóstico , Biopsia , Enfermedades Autoinflamatorias HereditariasRESUMEN
We present the case of an elderly man with a small-joint polyarthritis, accompanied by pitting oedema, involving hands and feet, raising clinical suspicion of remitting seronegative symmetrical synovitis with pitting oedema (RS3PE). Treatment with corticosteroids was initiated with significant improvement, but unacceptable iatrogeny ensued, and tapering was not possible without disease flare-up. A trial of tocilizumab allowed disease activity control, slow weaning of corticosteroids and, ultimately, its suspension. RS3PE is a rare rheumatological entity, initially thought to be a variant of rheumatoid arthritis (RA), with shared traits with polymyalgia rheumatica (PMR), and other seronegative spondyloarthropathies, thereby implying a shared pathophysiological background. Elevated levels of interleukin 6 (IL-6) are found in patients with RA, have shown to mirror disease activity in PMR and have also been described in the serum and synovial fluid of patients with RS3PE. Tocilizumab, an anti-IL-6 receptor antibody, shows auspicious results in several other rare rheumatic diseases other than RA.
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Artritis Reumatoide , Polimialgia Reumática , Sinovitis , Masculino , Humanos , Anciano , Sinovitis/diagnóstico , Sinovitis/tratamiento farmacológico , Sinovitis/complicaciones , Polimialgia Reumática/complicaciones , Artritis Reumatoide/complicaciones , Artritis Reumatoide/tratamiento farmacológico , Corticoesteroides/uso terapéutico , Edema/tratamiento farmacológico , Edema/complicacionesRESUMEN
BACKGROUND: Rheumatoid Arthritis Magnetic Resonance Imaging Score (RAMRIS) is usually used for the semi-quantitative evaluation of joint changes in Rheumatoid Arthritis (RA). However, this method cannot evaluate early changes in bone marrow edema (BME). OBJECTIVE: To determine whether T1 mapping of wrist BME predicts early treatment response in RA. METHODS: This study prospectively enrolled 48 RA patients administered oral anti-rheumatic drugs. MRI of the most severely affected wrist was performed before and after 4 (48 patients) and 8 weeks of treatment (38 patients). Mean T1 values of BME in the lunate, triangular, and capitate bones; RAMRIS for each wrist; Erythrocyte-Sedimentation Rate (ESR); and 28-joint Disease Activity Score (DAS28)-ESR score were analyzed. Patients were divided into responders (4 weeks, 30 patients; 8 weeks, 32 patients) and non-responders (4 weeks, 18 patients; 8 weeks, 6 patients), according to EULAR response criteria. Receiver operating characteristic (ROC) curves were used to evaluate the efficacy of T1 values. RESULTS: ESR and DAS28-ESR were not correlated with T1 value and RAMRIS at each examination (P > 0.05). Changes in T1 value and DAS28-ESR relative to the baseline were moderately positively correlated with each other at 4 and 8 weeks (r = 0.555 and 0.527, respectively; P < 0.05). At 4 weeks, the change and rate of change in T1 value significantly differed between responders and non-responders (-85.63 vs. -19.92 ms; -12.89% vs. -2.81%; P < 0.05). The optimal threshold of the rate of change in T1 value at 4 weeks for predicting treatment response was -5.32% (area under the ROC curve, 0.833; sensitivity, 0.900; specificity, 0.667). CONCLUSION: T1 mapping provides a new imaging method for monitoring RA lesions; changes in wrist BME T1 values reflect early treatment response.
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Artritis Reumatoide , Sinovitis , Humanos , Sinovitis/diagnóstico , Sinovitis/patología , Artritis Reumatoide/diagnóstico por imagen , Artritis Reumatoide/tratamiento farmacológico , Imagen por Resonancia Magnética/métodos , Articulación de la Muñeca/diagnóstico por imagen , Articulación de la Muñeca/patología , Edema/diagnóstico , Edema/patología , Espectroscopía de Resonancia MagnéticaRESUMEN
AIM: To develop and validate an algorithm to rapidly distinguish transient synovitis (TS) of the hip from differential diagnoses without additional tests. METHODS: This retrospective cohort study included all children admitted for non-traumatic limping in the emergency department at Lille University-Hospital between 2016 and 2020. The gold standard was a definitive diagnosis at follow-up visit. All variables associated with acute limping in children were analysed in univariate and multivariable analyses. An algorithm was then developed using recursive partitioning and validated internally on a subset of patients. RESULTS: There were 995 patients included (mean age 5.3 years; males 63%); 337 had a TS including 210 confirmed at follow-up visit and 354 another diagnosis. After multivariable analysis, the relevant variables for distinguishing between TS and differential diagnoses were: age 3-10 years, absence of fever, absence of local inflammation, sudden onset of limping on awakening. An algorithm combining these variables was developed (n = 297) and validated internally (n = 175) for children >12 months with limping for ≤10 days, with a specificity of 98.2% and a positive likelihood ratio of 19.6. No serious differential diagnoses were missed. CONCLUSION: Use of this algorithm enables the diagnosis of TS without additional tests and without missing serious differential diagnoses.
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Algoritmos , Sinovitis , Humanos , Masculino , Preescolar , Sinovitis/diagnóstico , Estudios Retrospectivos , Femenino , Niño , Lactante , Articulación de la Cadera , Diagnóstico Diferencial , Estudios de CohortesRESUMEN
OBJECTIVES: Musculoskeletal [MSK] manifestations in patients with inflammatory bowel disease [IBD] are common and associated with poorer outcomes. Hence, early detection is important to optimally tailor treatment. We aimed to determine the prevalence and distribution of inflammatory lesions in peripheral joints and entheses in newly diagnosed IBD patients. DESIGN: Patients with newly diagnosed IBD from a prospective population-based inception cohort were consecutively included. Data on MSK symptoms were collected by questionnaires and by structured rheumatological interview. Peripheral joints and entheses were assessed clinically and by ultrasound [US], using standardized definitions. RESULTS: Of 110 included patients (mean age: 42 years, 40% male, 70 with ulcerative colitis [UC], 40 with Crohn's disease [CD]), a history of ≥1 peripheral musculoskeletal symptom was reported by 49%. Clinical examination revealed peripheral MSK manifestations in 56 [52.3%] patients; 29 [27.1%] had ≥1 tender and/or swollen joints and 49 [45.8%] ≥1 tender entheses. Small peripheral joints were predominantly affected. US found inflammation in ≥1 joint or enthesis in 52 [49.5 %] patients; 29 [27.4 %] had US synovitis in ≥1 joint, while 36 [34%] had US enthesitis. Fibromyalgia classification criteria were fulfilled in seven [7.9%] patients. There was no difference in clinical or US findings between patients with UC and CD, nor between patients with active and inactive IBD. CONCLUSION: Half of the patients with newly diagnosed IBD had inflammation in their peripheral joints and/or entheses, documented by rheumatological clinical and US evaluations. This indicates a need for multidisciplinary collaboration to ensure an optimal therapeutic strategy for suppressing inflammation in all disease domains.
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Entesopatía , Ultrasonografía , Humanos , Masculino , Femenino , Adulto , Ultrasonografía/métodos , Estudios Prospectivos , Entesopatía/diagnóstico por imagen , Entesopatía/etiología , Persona de Mediana Edad , Sinovitis/diagnóstico por imagen , Sinovitis/etiología , Sinovitis/diagnóstico , Enfermedad de Crohn/diagnóstico por imagen , Enfermedad de Crohn/complicaciones , Colitis Ulcerosa/diagnóstico por imagen , Colitis Ulcerosa/complicaciones , Enfermedades Inflamatorias del Intestino/diagnóstico por imagen , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/epidemiología , Prevalencia , Estudios de CohortesRESUMEN
OBJECTIVE: To investigate the performance and factors of influence of optical spectral transmission (OST) imaging as a new technique for measuring joint inflammation in rheumatoid arthritis (RA). METHOD: OST was performed in 24 RA patients and 37 controls. Mann-Whitney U-test was used to assess differences in OST score between RA patients and controls. Receiver operating characteristics (ROC), linear regression and generalized estimating equations analysis were used to assess the discriminative capability of OST and the association of OST score with clinical disease parameters, ultrasound, radiographic features and cardiovascular risk parameters. RESULTS: Median OST score was higher in RA patients than in controls [16.9 (interquartile range 12.77-19.7) vs 12.11 (10.32-14.93)]. At patient level, OST score was moderately associated with ultrasound [beta 0.38 (95% CI 0.16-0.60), p = 0.001] and clinical disease activity [28-joint Disease Activity Score-C-reactive protein beta 0.30 (95% CI 0.04- 0.57), p = 0.024] in RA patients. In controls, male sex, high body mass index, and hypertension were associated with higher OST scores, while these associations were absent in RA. At joint level, the area under the ROC curve for OST score, with ultrasound or clinical swelling as reference, ranged from 0.63 to 0.70. Joint-space narrowing and malalignment were associated with higher OST joint scores, and subchondral sclerosis with lower scores. CONCLUSION: OST provides an objective measure of synovitis and correlates moderately with other examined disease activity assessment tools. Clinical patient characteristics must be considered when interpreting the results.
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Artritis Reumatoide , Sinovitis , Humanos , Masculino , Artritis Reumatoide/diagnóstico , Ultrasonografía/métodos , Sinovitis/diagnóstico , Curva ROC , Índice de Severidad de la EnfermedadRESUMEN
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a rare chronic inflammatory disease that develops in adults. We present a case of SAPHO syndrome in a 37-year-old male presenting with gradually worsening back and neck pain for a 7-year period. The episodes were preceded by a history of pustular skin eruptions, which first appeared on the upper trunk and then involved his face and were pustular and scarring. The purpose of presenting this case report from Iraq is to raise awareness about this rare condition, which is frequently misdiagnosed and under-recognized.
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Acné Vulgar , Síndrome de Hiperostosis Adquirido , Osteítis , Sinovitis , Masculino , Adulto , Humanos , Síndrome de Hiperostosis Adquirido/complicaciones , Síndrome de Hiperostosis Adquirido/diagnóstico , Síndrome de Hiperostosis Adquirido/tratamiento farmacológico , Sinovitis/diagnóstico , Dolor de Espalda/diagnóstico , Dolor de Espalda/etiología , Piel , Acné Vulgar/diagnósticoRESUMEN
OBJECTIVE: The objective of this study was to investigate the relation between swelling and tenderness of individual finger joints and grip force in patients with early rheumatoid arthritis (RA). METHODS: In an inception cohort of patients with early RA (symptom duration < 12 months), all patients were examined by the same rheumatologist, and grip force was measured using the Grippit instrument at inclusion, 1 and 5 years. The average grip force values of each hand were evaluated and expressed as % of expected values, based on age- and sex-specific reference values. Linear regression analyses were used to assess the cross-sectional relation between the involvement of individual finger joints and grip force. In generalized estimating equations, the impact of time-varying synovitis/tenderness on grip force over time was estimated. Analyses were adjusted for wrist involvement, erythrocyte sedimentation rate, and patient-reported pain. RESULTS: In 215 patients with early RA, grip force was 39% of expected at diagnosis, and increased to 56% after 5 years. Synovitis of the first metacarpophalangeal (MCP) joint (60% and 69% at baseline in the right and left hand) was associated with reduced grip force at inclusion (adjusted ß - 9.2 percentage unit of expected grip force; 95% CI - 13.6 to - 4.8 for both hands combined) and at all follow-up evaluations. Synovitis of MCP I and MCP IV (12% at baseline) was significantly associated with reduced grip force over time in both hands. Proximal interphalangeal (PIP) joint swelling, and tenderness of MCP or PIP joints, had less impact on grip force. CONCLUSION: MCP I synovitis is the major contributor to reduced grip force in patients with early RA. This underlines the importance of the involvement of the thumb for impaired hand function in RA. MCP IV synovitis, but not PIP involvement or finger joint tenderness, also has a substantial impact on grip force.
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Artritis Reumatoide , Sinovitis , Masculino , Femenino , Humanos , Articulaciones de los Dedos , Estudios de Cohortes , Estudios Transversales , Sinovitis/diagnóstico , Fuerza de la ManoRESUMEN
BACKGROUND: Limping is a common clinical symptom in childhood; different clinical conditions may lead to limping and the diagnosis of the underlying cause may often be a challenge for the pediatrician. CASE PRESENTATION: We describe the clinical manifestations, radiological pictures and disease course of other causes of limping in childhood, through a case series of seven cases and a brief discussion of each disease. CONCLUSIONS: although trauma is the most common cause of acute limping, when there is no history of traumatic events and the limping has a chronic course, Juvenile Idiopathic Arthritis is usually the most likely clinical diagnosis. However, other some rare conditions should be taken into account if JIA is not confirmed or if it presents with atypical clinical picture.
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Artritis Juvenil , Sinovitis , Humanos , Artritis Juvenil/complicaciones , Artritis Juvenil/diagnóstico , Sinovitis/diagnóstico , Diagnóstico DiferencialRESUMEN
Rheumatoid arthritis (RA) is a systemic autoimmune disease that is primarily manifested as synovitis and polyarticular opacity and typically leads to serious joint damage and irreversible disability, thus adversely affecting locomotion ability and life quality. Consequently, good prognosis heavily relies on the early diagnosis and effective therapeutic monitoring of RA. Activatable fluorescent probes play vital roles in the detection and imaging of biomarkers for disease diagnosis and in vivo imaging. Herein, we review the fluorescent probes developed for the detection and imaging of RA biomarkers, namely reactive oxygen/nitrogen species (hypochlorous acid, peroxynitrite, hydroxyl radical, nitroxyl), pH, and cysteine, and address the related challenges and prospects to inspire the design of novel fluorescent probes and the improvement of their performance in RA studies.
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Artritis Reumatoide , Sinovitis , Humanos , Colorantes Fluorescentes/uso terapéutico , Artritis Reumatoide/diagnóstico por imagen , Artritis Reumatoide/tratamiento farmacológico , Sinovitis/diagnóstico , Biomarcadores , Especies de Nitrógeno Reactivo/uso terapéutico , Especies Reactivas de OxígenoRESUMEN
BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS. CASE PRESENTATION: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes. CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.