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OBJECTIVE: A shortage of rheumatologists has led to gaps in inflammatory arthritis (IA) care in Canada. Amplified in rural-remote communities, the number of rheumatologists practicing rurally has not been meaningfully increased, and alternate care strategies must be adopted. In this retrospective chart review, we describe the impact of a shared-care telerheumatology model using a community-embedded Advanced Clinician Practitioner in Arthritis Care (ACPAC)-extended role practitioner (ERP) and an urban-based rheumatologist. METHODS: A rheumatologist and an ACPAC-ERP established a monthly half-day hub-and-spoke-telerheumatology clinic to care for patients with suspected IA, triaged by the ACPAC-ERP. Comprehensive initial assessments were conducted in-person by the ACPAC-ERP (spoke); investigations were completed prior to the telerheumatology visit. Subsequent collaborative visits occurred with the rheumatologist (hub) attending virtually. Retrospective analysis of demographics, time-to-key care indices, patient-reported outcomes, clinical data, and estimated travel savings was performed. RESULTS: Data from 124 patients seen between January 2013 and January 2022 were collected; 98% (n = 494/504 visits) were virtual. The average age of patients at first visit was 55.6 years, and 75.8% were female. IA/connective tissue disease (CTD) was confirmed in 65% of patients. Mean time from primary care referral to ACPAC-ERP assessment was 52.5 days, and mean time from ACPAC-ERP assessment to the telerheumatology visit was 64.5 days. An estimated 493,470 km of patient-related travel was avoided. CONCLUSION: An ACPAC-ERP (spoke) and rheumatologist (hub) telerheumatology model of care assessing and managing patients with suspected IA in rural-remote Ontario was described. This model can be leveraged to increase capacity by delivering comprehensive virtual rheumatologic care in underserved communities.
Assuntos
Reumatologistas , Reumatologia , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Reumatologia/métodos , Ontário , Idoso , Adulto , Telemedicina , População Rural , Serviços de Saúde Rural/organização & administração , Artrite/terapia , Artrite/diagnósticoRESUMO
OBJECTIVES: To examine the value of a novel high-resolution thermographic marker in the detection of joint inflammation compared to joint ultrasound (US) and to suggest thermographic cut-off values of joint inflammatory activity. METHODS: Infrared thermographies were performed in patients with inflammatory arthritides and healthy controls. Patients were moreover examined clinically and by joint-US [Power-Doppler-(PDUS), Greyscale-US (GSUS)]. Regions of interest (ROIs) were defined for every joint and absolute temperature values within the ROIs were documented. The hottest areas ("hotspots") were identified by a clustering algorithm and the Hotspot/ROI-Ratio (HRR)-values were calculated. Subsequently, the HRR of patient-joints with different grades of hypervascularity (PDUS I°-III°) were compared among each other and with PDUS 0° control-joints. Diagnostic HRR-performance was tested by receiver-operating-characteristics. RESULTS: 360 joints of 75 arthritis-patients and 1,808 joints of 70 controls were thermographically examined. HRR-values were statistically different between PDUS I-III vs. PDUS 0 and vs. healthy subjects for all four joint groups as well as in the majority of cases between patient-joints with different grades of hypervascularity (PDUS I°-III°; p<0.05). Taking joint-US as a reference, the best performance of HRR was found at the level of the wrist-joints by an area under the curve (AUC) of 0.91 (95%CI 0.84-0.98) with a sensitivity of 0.83 and specificity of 0.88. CONCLUSIONS: HRR showed an excellent performance in the differentiation of joints with US inflammatory activity from non-inflamed joints. Moreover, HRR was able to differentiate between joints with different grades of hypervascularity, making HRR a promising tool to assist disease activity monitoring.
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Articulações , Termografia , Humanos , Termografia/métodos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Estudos de Casos e Controles , Articulações/diagnóstico por imagem , Articulações/fisiopatologia , Ultrassonografia Doppler , Valor Preditivo dos Testes , Curva ROC , Raios Infravermelhos , Artrite/diagnóstico por imagem , Artrite/fisiopatologia , Artrite/diagnóstico , Reprodutibilidade dos Testes , Área Sob a Curva , Índice de Gravidade de DoençaRESUMO
PURPOSE: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition. METHODS: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain. RESULTS: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05). CONCLUSION: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used.
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Doenças do Tecido Conjuntivo , Descolamento Retiniano , Recurvamento da Esclera , Acuidade Visual , Vitrectomia , Humanos , Descolamento Retiniano/cirurgia , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/fisiopatologia , Estudos Retrospectivos , Acuidade Visual/fisiologia , Masculino , Feminino , Vitrectomia/métodos , Adulto , Recurvamento da Esclera/métodos , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/cirurgia , Doenças do Tecido Conjuntivo/diagnóstico , Pessoa de Meia-Idade , Adulto Jovem , Resultado do Tratamento , Seguimentos , Adolescente , Artrite/cirurgia , Artrite/diagnóstico , Artrite/fisiopatologia , Artrite/complicações , Perda Auditiva Neurossensorial/cirurgia , Perda Auditiva Neurossensorial/diagnóstico , Tamponamento Interno , Criança , Óleos de Silicone/administração & dosagemRESUMO
OBJECTIVE: Insulin resistance (IR) imposes a significant burden on inflammatory diseases, and the triglyceride-glucose (TyG) index, which is an easily accessible indicator for detecting IR, holds great application potential in predicting the risk of arthritis. The aim of this study is to analyze the association between the TyG index and the risk of new-onset arthritis in the common population aged over 45 using a prospective cohort study design. METHOD: This population-based cohort study involved 4418 participants from the China Health and Retirement Longitudinal Study (from Wave 1 to Wave 4). Multivariate logistic regression models were employed to investigate the association between the TyG index and new-onset arthritis, and RCS analyses were used to investigate potential non-linear relationships. Moreover, decision trees were utilized to identify high-risk populations for incident arthritis. RESULT: Throughout a 7-year follow-up interval, it was found that 396 participants (8.96%) developed arthritis. The last TyG index quartile group (Q4) presented the highest risk of arthritis (OR, 1.39; 95% CI, 1.01, 1.91). No dose-response relationship between the TyG index and new-onset arthritis was identified (Poverall=0.068, Pnon-linear=0.203). In the stratified analysis, we observed BMI ranging from 18.5 to 24 exhibited a heightened susceptibility to the adverse effects of the TyG index on the risk of developing arthritis (P for interaction = 0.035). CONCLUSION: The TyG index can be used as an independent risk indicator for predicting the start of new-onset arthritis within individuals aged 45 and above within the general population. Improving glucose and lipid metabolism, along with insulin resistance, may play a big part in improving the primary prevention of arthritis.
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Artrite , Resistência à Insulina , Humanos , Estudos de Coortes , Estudos Longitudinais , Estudos Prospectivos , Artrite/diagnóstico , Artrite/epidemiologia , Glucose , Fatores de Risco , Triglicerídeos , Glicemia , BiomarcadoresRESUMO
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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Artrite , Proteína Adaptadora de Sinalização NOD2 , Sarcoidose , Sinovite , Uveíte , Humanos , Masculino , Uveíte/genética , Uveíte/diagnóstico , Artrite/genética , Artrite/diagnóstico , Sinovite/genética , Sinovite/patologia , Sinovite/diagnóstico , Adulto , Proteína Adaptadora de Sinalização NOD2/genética , Sarcoidose/genética , Sarcoidose/diagnóstico , Sarcoidose/patologia , Dermatite/genética , Dermatite/patologia , Dermatite/diagnóstico , Biópsia , Doenças Hereditárias AutoinflamatóriasRESUMO
ABSTRACT: Synovial lipomatosis is a rare condition characterized by adipocyte proliferation within joint synovial tissue. It most commonly affects the knee and is typically intra-articular. Only 5 published case reports describe extra-articular synovial lipomatosis of the wrist. We present a case of a sexagenarian patient seen for his wrist arthropathy. His x-ray revealed pan-wrist arthritis and inflammatory soft tissue swelling. The patient was slated for a wrist fusion and Darrach procedure. Following the dorsal skin incision in the operating room, an unusual adipose mass was identified infiltrating all extensor compartments: midcarpal, radiocarpal, and distal radioulnar joints. The mass was excised and sent to pathology prior to proceeding with the slated surgery. Synovial lipomatosis was diagnosed postoperatively based on histopathology. Six weeks postoperatively, the wrist fusion had healed clinically and radiographically, and his pain had improved. There was no evidence of recurrence. Synovial lipomatosis is a rare entity that may imitate multiple other pathologies. It is possible that synovial lipomatosis may represent a secondary occurrence following degenerative articular disease or trauma in older patients. This is the first case report to date describing synovial lipomatosis of the wrist with extra-articular extension in the setting of pan-carpal wrist arthritis.
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Lipomatose , Membrana Sinovial , Articulação do Punho , Humanos , Masculino , Lipomatose/cirurgia , Lipomatose/diagnóstico , Lipomatose/patologia , Articulação do Punho/cirurgia , Articulação do Punho/patologia , Articulação do Punho/diagnóstico por imagem , Membrana Sinovial/patologia , Artrite/diagnóstico , Artrite/cirurgia , Artrite/etiologia , IdosoRESUMO
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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Artrite , Sarcoidose , Sinovite , Uveíte , Humanos , Sinovite/genética , Sinovite/diagnóstico , Uveíte/diagnóstico , Sarcoidose/diagnóstico , Sarcoidose/patologia , Artrite/diagnóstico , Pré-Escolar , Masculino , Feminino , Artrite Infecciosa/diagnóstico , Doenças Hereditárias AutoinflamatóriasRESUMO
According to the 2021 CDC sexually transmitted disease surveillance report, national cases of syphilis and gonorrhea continue to rise. Currently, South Dakota ranks #1 in syphilis and #2 in gonorrhea cases per 100,000 population. The higher incidence increases the likelihood South Dakota clinicians will encounter different presentations of syphilis and gonorrhea. Recently, we have seen patients presenting with acute STI related inflammatory arthritis. This review discusses the acute arthritic presentations associated with gonorrhea and syphilis and its treatment.
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Gonorreia , Sífilis , Humanos , Gonorreia/epidemiologia , Gonorreia/diagnóstico , Gonorreia/tratamento farmacológico , Gonorreia/complicações , Sífilis/epidemiologia , Sífilis/diagnóstico , Doença Aguda , Antibacterianos/uso terapêutico , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/epidemiologia , Artrite Infecciosa/terapia , Artrite/epidemiologia , Artrite/diagnóstico , South Dakota/epidemiologiaRESUMO
Acquired amegakaryocytic thrombocytopenia (AATP) is an uncommon cause of severe thrombocytopenia with preserved cells of other lineages, which can present with severe bleeding episodes. We report a case of a 45-year-old male with seronegative arthritis who was diagnosed with idiopathic thrombocytopenic purpura (ITP) and was being treated with steroids for ITP. Despite aggressive treatment, the patient had persistently low levels of platelets. In view of persistent thrombocytopenia, bone marrow biopsy was done and was diagnosed as Acquired Amegakaryocytic Thrombocytopenia (AATP). Patient was successfully treated with cyclosporine. Correct identification of AATP is essential because it can lead to life threatening bleeding manifestations and advance into Aplastic anemia or MDS. How to cite this article: N AM, Rajanna AH, Kamath N. Acquired Amegakaryocytic Thrombocytopenia Misdiagnosed as Immune Thrombocytopenia in a Patient with Seronegative Arthritis: A Case Report. J Assoc Physicians India 2023;71(11):100-102.
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Artrite , Erros de Diagnóstico , Púrpura Trombocitopênica Idiopática , Humanos , Masculino , Pessoa de Meia-Idade , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/complicações , Artrite/diagnóstico , Artrite/etiologia , Púrpura Trombocitopênica/diagnóstico , Ciclosporina/uso terapêutico , Trombocitopenia/diagnóstico , Trombocitopenia/etiologia , Imunossupressores/uso terapêutico , Doenças da Medula ÓsseaRESUMO
ABSTRACT: Hand radiographs show gold thread used as part of acupuncture treatment for arthritis.
Assuntos
Terapia por Acupuntura , Artrite , Humanos , Artrite/diagnóstico , Artrite/terapia , RadiografiaRESUMO
ABSTRACT: Intra-articular osteoid osteoma may simulate arthritis, due to the intra-articular presence of prostaglandin, which leads to synovitis, joint effusion, pain, and high local temperature. Also, intra-articular osteoid osteoma may present with minimum or no cortical thickening. Therefore, a high suspicion is needed for a correct and early diagnosis. Perfusion weighted imaging, such as dynamic contrast-enhanced imaging, can aid in the localization of the tumor nidus, seen as an early arterial-phase focal enhancement after the gadolinium injection, with fast washout, as a result of its hypervascularity.
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Artrite , Neoplasias Ósseas , Osteoma Osteoide , Sinovite , Humanos , Neoplasias Ósseas/diagnóstico , Osteoma Osteoide/diagnóstico , Tomografia Computadorizada por Raios X , Artrite/diagnóstico , Artrite/etiologiaRESUMO
Multicentric reticulohistiocytosis is a rare, non-Langerhans cell histiocytosis that most commonly presents in women in their fourth or fifth decades of life. Cutaneous involvement, characterized by reddish-brown papules in a "string of pearls" or "coral bead" linear formation, and joint involvement are the two most common manifestations at presentation. Histopathology demonstrates dermal proliferation of epithelioid histiocytic-appearing cells with ground glass cytoplasm. We report a 51-year-old woman who presented with ruddy, periungual papules and bilateral joint pain in the hands, consistent with multicentric reticulohistiocytosis. We describe the clinical and histopathologic presentation, therapeutic options, and differential diagnosis of this rare condition.
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Artrite , Histiocitose de Células não Langerhans , Dermatopatias , Humanos , Feminino , Dermatopatias/patologia , Histiocitose de Células não Langerhans/patologia , Diagnóstico Diferencial , Artrite/diagnósticoRESUMO
PURPOSE: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology call for cautious interpretation of variants as causative of a monogenic disorder by stringent standards. We aimed to reclassify the pathogenicity of nucleotide binding oligomerization domain containing 2 (NOD2) variants according to the ACMG guidelines and to characterize clinical features in patients whose ocular disease might actually be explained by Blau syndrome. DESIGN: Genetic analysis and descriptive study. PARTICIPANTS: A total of 1003 unrelated healthy individuals and 3921 sporadic patients who presented with uveitis. METHODS: Whole-exome sequencing was performed on all healthy participants and 551 patients with uveitis, and targeted NOD2 resequencing was performed on the remaining 3370 patients with uveitis. Pathogenicity for Blau syndrome was classified for NOD2 variants identified by sequencing in study participants according to the ACMG guidelines. Clinical manifestations were compared among NOD2 variants of different levels of classification. MAIN OUTCOME MEASURES: Pathogenicity of variants. RESULTS: Eight NOD2 gain-of-function mutations, p.R334W, p.R334Q, p.E383K, p.G481D, p.W490S, p.M513T, p.R587C, and p.N670K, were classified as pathogenic, and 66 patients (1.7%) with uveitis were diagnosed with Blau syndrome due to these mutations. Of 66 with Blau syndrome, anterior uveitis accounted for 39.4%, posterior uveitis for 9.1%, and panuveitis for 51.5%. A proportion of 21.2% of Blau syndrome presented as multifocal choroiditis, 48.5% had papillitis, and 74.2% showed retinal microvasculitis detected by fundus fluorescein angiography. Six NOD2 variants, p.P268S, p.R311W, p.R471C, p.A612T, p.R702W, and p.V955I, were considered nonpathogenic for Blau syndrome and were identified in 96 patients with uveitis. The incidence of bilateral uveitis (86.4%), secondary glaucoma (47.0%), epiretinal membrane (7.6%), choroidal neovascularization (4.6%), retinal atrophy (10.6%), arthritis (69.7%), joint deformity (51.5%), and skin rash (40.9%) was higher in Blau syndrome than in patients with uveitis carrying non-Blau-causing NOD2 variants. Patients with Blau syndrome permanently experienced overall poorer best-corrected visual acuity. Several rare NOD2 mutations, p.I722L (2 cases), p.T476P (1 case), p.T476del (1 case), and p.R439H (1 case), were newly identified. CONCLUSIONS: Pathogenic NOD2 variants for Blau syndrome were limited to those gain-of-function mutations and were associated with a high risk for arthritis, skin rash, permanent visual loss, and ocular complications in patients with uveitis.
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Artrite , Exantema , Sarcoidose , Uveíte , Artrite/diagnóstico , Artrite/genética , China , Exantema/complicações , Humanos , Mutação , Proteína Adaptadora de Sinalização NOD2/genética , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/genética , Sinovite , Uveíte/complicações , Uveíte/diagnóstico , Uveíte/genéticaRESUMO
Inborn errors of immunity (IEI) are a heterogeneous entity with an increasing number of late diagnoses. Besides infections, inflammatory manifestations are a growing part of the clinical landscape of IEI. These complications are of unknown causes and often lead to the prescription of immunosuppressive agents that worsen the underlying immune defect. We here report the case of an adult patient diagnosed with chronic Human Adenovirus C-1 arthritis in the setting of primary agammaglobulinemia. Metagenomic next-generation sequencing led to the correct diagnosis and high-dose intravenous immunoglobulins resulted in complete recovery. This observation gives new insights into adenoviral immunity and underlines the importance of metagenomics in the diagnosis of inflammatory manifestations in immunocompromised patients.
Assuntos
Adenovírus Humanos , Agamaglobulinemia , Artrite , Adulto , Humanos , Agamaglobulinemia/complicações , Agamaglobulinemia/diagnóstico , Adenoviridae/genética , Artrite/diagnóstico , Artrite/complicações , Imunoglobulinas Intravenosas/uso terapêuticoRESUMO
BACKGROUND: Undertreated risk factors are major contributors to the burden of cardiovascular disease (CVD). Those with arthritis have an increased prevalence of CVD risk factors. CVD risk factors are often asymptomatic, which may be a barrier their treatment. Arthritis causes pain and immobility, and is a common reason for individuals to seek healthcare. Our aims were to (1) examine the relationship between arthritis and CVD risk factors in Australian adults, and (2) calculate the proportion of CVD risk factors that could be reduced if individuals with arthritis were targeted. METHODS: This cross-sectional study uses data from the 2017-18 Australian National Health Survey which included 13,776 participants, categorised into young (18-39 years), middle aged (40-64 years) and older (≥ 65 years) adults. Hypertension, height and weight were measured. Arthritis, dyslipidemia and diabetes were self-reported. The associations between arthritis and CVD risk factors were examined using logistic regression, and the population attributable fraction (PAF) of arthritis for each CVD risk factor was calculated. RESULTS: Arthritis was reported by 4.0% of young adults, 28.8% of middle-aged adults and 54.5% of older adults. Those with arthritis were at increased odds of obesity (2.07 fold in young, 1.75 fold in middle-aged and 1.89 fold in older adults), increased odds of diabetes (5.70 fold in young, 1.64 fold in middle-aged and 1.37 fold in older adults), increased odds of hypertension (2.72 fold in young, 1.78 fold in middle-aged and 1.48 fold in older adults) and an increased odds of dyslipidaemia (4.64 fold in young, 2.14 fold in middle-aged and 1.22 fold in older adults) compared to those without arthritis. This elevated chance remained significant even after adjusting for obesity, with the exception of diabetes in the older population. This elevated chance remained significant even after adjusting for obesity, with the exception of diabetes in the older population. The PAF of the presence of arthritis for having at least one CVD risk factor was 30.7% in middle-aged adults and 70.4% in older adults. CONCLUSION: Australian adults of all ages with arthritis are at increased odds of having CVD risk factors. For young and middle-aged adults, this increased odds remains significant even when adjusted for obesity. Presentation to healthcare practitioners with arthritis is an opportunity to screen for asymptomatic CVD risk factors with the potential of improving outcomes for both diseases. By adopting an approach of managing arthritis and CVD risk factors in parallel, rather than in silos, we could reduce the burden of CVD risk factors by 20-30%.
Assuntos
Artrite , Doenças Cardiovasculares , Diabetes Mellitus , Dislipidemias , Hipertensão , Idoso , Artrite/complicações , Artrite/diagnóstico , Artrite/epidemiologia , Austrália/epidemiologia , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/prevenção & controle , Estudos Transversais , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Dislipidemias/complicações , Dislipidemias/diagnóstico , Dislipidemias/epidemiologia , Fatores de Risco de Doenças Cardíacas , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Pessoa de Meia-Idade , Obesidade/complicações , Obesidade/diagnóstico , Obesidade/epidemiologia , Prevalência , Fatores de Risco , Adulto JovemRESUMO
Cellular fibroma of tendon sheath (CFTS) is a rare, benign myofibroblastic neoplasm of tenosynovial soft tissues closely resembling nodular fasciitis (NF), but is histomorphologically distinct from classic fibroma of tendon sheath (FTS). We report a case of a pediatric patient with thumb swelling clinically concerning for arthritis with a biopsy demonstrating myofibroblastic proliferation with features consistent with NF/CFTS, and molecular studies confirming the presence of a USP6 gene fusion (TNC-USP6). This case highlights a unique clinical presentation of CFTS in a pediatric patient mimicking an inflammatory or reactive/non-neoplastic musculoskeletal disorder and the increasingly crucial role of molecular testing to differentiate a reactive myofibroblastic process from a neoplasm. Moreover, this report identifies TNC as a new fusion partner to USP6 fusion partner adding to our growing understanding of the USP6-rearranged family of tumors.
Assuntos
Artrite , Fasciite , Fibroma , Artrite/diagnóstico , Artrite/genética , Artrite/patologia , Criança , Fasciite/diagnóstico , Fasciite/genética , Fasciite/patologia , Fibroma/diagnóstico , Fibroma/genética , Fibroma/patologia , Fusão Gênica , Rearranjo Gênico , Humanos , Masculino , Tendões/patologia , Ubiquitina Tiolesterase/genéticaRESUMO
Sarcoidosis may present with many rheumatological symptoms as well as mimic and/or may occur concomitantly with many other rheumatic diseases. We examined the demographic, clinical and laboratory characteristics of patients diagnosed with sarcoidosis in the rheumatology department. This study planned as retrospective cross-sectional study. Medical records of patients who applied to our rheumatology outpatient clinic due to complain of musculoskeletal problems and then diagnosed sarcoidosis were retrospectively investigated. Joint findings, extrapulmonary involvements, and coexisting rheumatic disease were evaluated. Fifty-six patients (41.21 ± 7.83 years, 75% female) were included. The duration of the disease was 49.61 ± 29.11 months, and the follow-up period was 26.66 ± 13.26 months. All patients had pulmonary system involvement. Arthralgia was present in 91.10% of 56 patients and arthritis in 89.29% of patients. Examining the subtypes of the arthritis findings, mono-arthritis was found in 31/50 (62%) patients, oligo-arthritis in 15/50 (30%) patients, and polyarthritis in 4/50 (8%) patients. A total of 11 (19.60%) patients were diagnosed with uveitis. Excision of the mediastinal LAP was performed in a total of 37 patients (66.1%) and became the most commonly employed method. Considering the treatment distribution of the patients under followed-up, it is seen that non-steroidal anti-inflammatory treatments were used in 15 (26.8%) patients, corticosteroids in a total of 40 (71.4%) patients, methotrexate in a total of 15 patients (26.8%), azathioprine in six (10.7%) patients, hydroxychloroquine in 14 (25%) patients, and infliximab in one (1.8%) patient. As sarcoidosis is a mimicking disease, a good differential diagnosis should be made to avoid misdiagnosis and in order not to be late in diagnosis and treatment. Physicians, especially rheumatologists, should remember sarcoidosis more frequently as the disease may overlap with other rheumatological diseases and may occur with many rheumatological manifestations.
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Artrite , Doenças Reumáticas , Reumatologia , Sarcoidose , Corticosteroides/uso terapêutico , Instituições de Assistência Ambulatorial , Anti-Inflamatórios não Esteroides/uso terapêutico , Artrite/diagnóstico , Azatioprina/uso terapêutico , Estudos Transversais , Feminino , Humanos , Hidroxicloroquina/uso terapêutico , Infliximab/uso terapêutico , Masculino , Metotrexato/uso terapêutico , Estudos Retrospectivos , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/tratamento farmacológico , Doenças Reumáticas/epidemiologia , Reumatologia/métodos , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico , Sarcoidose/epidemiologiaRESUMO
A 14-year-old girl presented with fevers, joint pain, leukocytosis, and painful, fluctuant skin lesions, preceded by a 2-week history of abdominal cramping and diarrhea. Workup revealed bowel-associated-dermatosis-arthritis syndrome (BADAS) in the setting of ulcerative colitis, a rare finding in the pediatric population.
Assuntos
Artrite , Colite Ulcerativa , Dermatite , Dermatopatias , Adolescente , Artralgia/diagnóstico , Artralgia/etiologia , Artrite/diagnóstico , Artrite/etiologia , Criança , Colite Ulcerativa/complicações , Colite Ulcerativa/diagnóstico , Feminino , HumanosRESUMO
Importance: Carpal tunnel syndrome, trigger finger, de Quervain tenosynovitis, and basilar (carpometacarpal) joint arthritis of the thumb can be associated with significant disability. Observations: Carpal tunnel syndrome is characterized by numbness and tingling in the thumb and the index, middle, and radial ring fingers and by weakness of thumb opposition when severe. It is more common in women and people who are obese, have diabetes, and work in occupations involving use of keyboards, computer mouse, heavy machinery, or vibrating manual tools. The Durkan physical examination maneuver, consisting of firm digital pressure across the carpal tunnel to reproduce symptoms, is 64% sensitive and 83% specific for carpal tunnel syndrome. People with suspected proximal compression or other compressive neuropathies should undergo electrodiagnostic testing, which is approximately more than 80% sensitive and 95% specific for carpal tunnel syndrome. Splinting or steroid injection may temporarily relieve symptoms. Patients who do not respond to conservative therapies may undergo open or endoscopic carpal tunnel release for definitive treatment. Trigger finger, which involves abnormal resistance to smooth flexion and extension ("triggering") of the affected finger, affects up to 20% of adults with diabetes and approximately 2% of the general population. Steroid injection is the first-line therapy but is less efficacious in people with insulin-dependent diabetes. People with diabetes and those with recurrent symptoms may benefit from early surgical release. de Quervain tenosynovitis, consisting of swelling of the extensor tendons at the wrist, is more common in women than in men. People with frequent mobile phone use are at increased risk. The median age of onset is 40 to 59 years. Steroid injections relieve symptoms in approximately 72% of patients, particularly when combined with immobilization. People with recurrent symptoms may be considered for surgical release of the first dorsal extensor compartment. Thumb carpometacarpal joint arthritis affects approximately 33% of postmenopausal women, according to radiographic evidence of carpometacarpal arthritis. Approximately 20% of patients require treatment for pain and disability. Nonsurgical interventions (immobilization, steroid injection, and pain medication) relieve pain but do not alter disease progression. Surgery may be appropriate for patients unresponsive to conservative treatments. Conclusions and Relevance: Carpal tunnel syndrome, trigger finger, de Quervain tenosynovitis, and thumb carpometacarpal joint arthritis can be associated with significant disability. First-line treatment for each condition consists of steroid injection, immobilization, or both. For patients who do not respond to noninvasive therapy or for progressive disease despite conservative therapy, surgical treatment is safe and effective.
Assuntos
Artrite , Síndrome do Túnel Carpal , Articulações Carpometacarpais , Doença de De Quervain , Tenossinovite , Dedo em Gatilho , Adulto , Artrite/diagnóstico , Artrite/etiologia , Artrite/terapia , Síndrome do Túnel Carpal/diagnóstico , Síndrome do Túnel Carpal/etiologia , Síndrome do Túnel Carpal/terapia , Doença de De Quervain/diagnóstico , Doença de De Quervain/etiologia , Doença de De Quervain/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor Musculoesquelética/tratamento farmacológico , Dor Musculoesquelética/etiologia , Dor/tratamento farmacológico , Dor/etiologia , Contenções , Esteroides/uso terapêutico , Tenossinovite/diagnóstico , Tenossinovite/etiologia , Tenossinovite/terapia , Dedo em Gatilho/diagnóstico , Dedo em Gatilho/etiologia , Dedo em Gatilho/terapiaRESUMO
Based on the clinical and microbiological monitoring of two groups of children aged 3 to 17 years with acute (n=78) and chronic (n=46) course of reactive arthritis (ReA), a method for early diagnosis of chronic arthritis was developed by determining the number of antibiotic-resistant coprostrains in patients with ReA, characterized by the absence of the need to isolate a pure culture of the pathogen and its identification; inoculation of faeces at a dilution of 10-5 on solid 1.5% GRM-agar with an antibacterial agents used in the treatment of a particular patient, at a minimum inhibitory concentration in the resistance range, followed by incubation and counting of the colonies of microorganisms grown on the plate. A significant relationship between the number of antibiotic-resistant gut bacterial strains and the course of arthritis (acute, chronic) was revealed, and the borderline value of the number of antibiotic-resistant gut bacterial strains was determined - 5×103 CFU/g, which allows differentiating the acute course from the chronic one: in the acute course< 5×103 CFU/g, with chronic - ≥ 5×103 CFU/g. The method allows, at the stage of completion of anti-inflammatory therapy in the active phase of the disease, to identify a risk group for the development of a chronic course of arthritis among patients with ReA, which can contribute to timely therapeutic measures aimed at preventing recurrence of the disease and making the patient disabled.