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INTRODUCTION: Idiopathic granulomatous mastitis (IGM) is an inflammatory breast disorder of unknown etiology. This benign condition can mimic the clinical presentation of breast cancer and is characterized by symptoms such as breast pain, erythema, and swelling. Over the past few years, Disease-Modifying Antirheumatic Drugs (DMARDs) have been increasingly used to manage this condition. However, strong evidence to support their use is lacking. OBJECTIVES: This systematic review aimed to summarize the evidence and evaluate the efficacy of DMARDs in the management of IGM. METHODS: A systematic literature review, adhering to PRISMA guidelines, was conducted across electronic databases, including PubMed, EMBASE, SCOPUS, directory of open access journals (DOAJ) and Cochrane Library from their inception until May 2024. We included retrospective and prospective studies while excluding case reports and case series of less than 10 patients. RESULTS: Eighteen studies met our eligibility criteria. Fifteen studies were retrospective, while 2 were prospective. No randomized controlled trials were identified. Of these, 16 papers examined the effect of methotrexate on IGM, revealing significant disease improvement in most cases. Several of the studies indicated that patients treated with azathioprine and mycophenolate mofetil also achieved favorable responses. CONCLUSION: Given the rarity of IGM, only a limited number of studies have explored the use of DMARDs as a pharmacological treatment option. A significant barrier to advancing our understanding is the substantial heterogeneity in the quality and volume of data provided by these studies. Therefore, there is a need for well-designed, randomized, placebo-controlled trials to rigorously assess the efficacy of DMARDs in the treatment of IGM.
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Antirreumáticos , Mastite Granulomatosa , Humanos , Mastite Granulomatosa/tratamento farmacológico , Feminino , Antirreumáticos/uso terapêutico , Resultado do Tratamento , Metotrexato/uso terapêutico , Azatioprina/uso terapêuticoRESUMO
PURPOSE OF THE REVIEW: This review provides an overview of medical conditions and risk factors associated with CPPD. RECENT FINDINGS: Recent studies have indicated that CPPD patients may have a higher risk for systemic conditions such as cardiovascular diseases. Calcium pyrophosphate deposition disease (CPPD) is a common crystal arthropathy that primarily affects older adults, and, in most cases, the aetiology is idiopathic. Age is the most remarkable risk factor and due to the aging population, the prevalence of this condition is expected to increase. Strong evidence supports an association between CPPD and several metabolic and endocrine conditions, including hemochromatosis, hyperparathyroidism, hypomagnesemia, and hypophosphatasia. Additionally, there is growing evidence of an increased risk for cardiovascular diseases among CPPD patients, alongside potential links to rheumatic disorders, gender, medications, and joint trauma. Further research is needed to explore the underlying mechanisms linking CPPD to associated conditions and to develop targeted therapies with the aim of improving patient outcomes.
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Condrocalcinose , Humanos , Condrocalcinose/metabolismo , Fatores de Risco , Pirofosfato de Cálcio/metabolismo , Hemocromatose/metabolismo , Hemocromatose/complicações , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/epidemiologia , Hiperparatireoidismo , Hipofosfatasia/epidemiologia , Hipofosfatasia/complicaçõesRESUMO
OBJECTIVES: The aim of this study was to determine the prevalence of restless leg syndrome (RLS) among patients with SLE, describe their clinical characteristics, examine its impact on health-related quality of life (HRQoL), and evaluate its association with depression. METHODS: A total of 124 SLE patients were recruited, with data on demographics, and clinical features collected. RLS diagnosis was based on the international RLS study group criteria, while depression was assessed by the patient health questionnaire. HRQoL was assessed by a disease-specific validated questionnaire, the LupusQoL, pain intensity was examined through the pain visual analogue scale, and disease activity was evaluated via the patient global assessment. These variables were compared between SLE patients with RLS and without RLS using t-tests or Wilcoxon and the chi-square test of independence for categorical variables. A p-value ≤0.05 was considered statistically significant. RESULTS: Among the SLE patients (mean age 48, 87.1 % women), 32 % had RLS. The SLE patients with RLS were found to have a longer delay in diagnosis (1 vs 0.5 years; p = 0.019) and were less likely to be employed (65 % vs 45 %, p = 0.040) compared to non-RLS patients. In addition, RLS patients were more likely to have coexisting Major Depressive Disorder (MDD) (p = 0.019), higher levels of pain (p = 0.006) and disease activity based on patient global assessment (p = 0.014). Further, most of the domains of LupusQoL were significantly lower in the RLS patients group suggesting a worse HRQoL. CONCLUSION: RLS was present in one-third of the SLE cohort, significantly impairing HRQoL and correlating with depression, higher pain, and increased disease activity. These findings underscore the importance of early RLS detection and management in SLE patients.
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Depressão , Lúpus Eritematoso Sistêmico , Qualidade de Vida , Síndrome das Pernas Inquietas , Humanos , Síndrome das Pernas Inquietas/epidemiologia , Síndrome das Pernas Inquietas/psicologia , Feminino , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/psicologia , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Depressão/epidemiologia , Inquéritos e Questionários , Prevalência , Adulto , Medição da DorRESUMO
OBJECTIVE: Recent studies have shown that CPPD might be associated with a higher risk of cardiovascular events related to inflammation. Thus, we aim to examine the outcomes of patients admitted for acute coronary syndrome (ACS) with and without CPPD. METHODS: We used data from the US National Inpatient Sample (NIS) Database to identify patients who were admitted for ACS between 2006 and 2019. The ICD-9 and -10 codes were used to determine the patients with ACS related hospitalizations and of those, we classified two groups of patients: those with and those without any CPPD code. Data collection included demographics and comorbidities. Outcomes were in-hospital mortality, length of stay, hospital charges, and in-hospital complications. Associations between CPPD and specific morbidity were evaluated with chi-square tests. T-tests were used for continuous variables. We have also presented odds ratio (OR) along with 95 % confidence intervals (CI) for the outcomes of interest. RESULTS: A total of 17,322,362 patients were admitted for ACS. Among them, 7,458 had CPPD, with a mean age of 75 years and 48 % were females. CPPD patients were more likely to be older (75 vs 68 years; p < 0.001) compared to non-CPPD patients. Among the comorbidities, chronic kidney disease was more frequently observed in CPPD patients. Regarding the inpatient complications, acute ischemic stroke and post-procedural hemorrhage were more frequently seen in CPPD patients. Interestingly, the in-hospital mortality was lower in the CPPD patients than the non-CPPD patients (OR: 0.77; CI 95 % 0.70-0.85). ACS in CPPD patients was associated with a longer mean length of stay than those without CPPD (OR: 3.35; 95 % CI 3.17-3.53). In addition, mean total charges were higher in the CPPD group (OR: 1.04; 95 % CI 1.01-1.10). CONCLUSION: ACS in CPPD patients is associated with higher healthcare utilization, including cost and length of hospital stay, and lower in-hospital mortality than non-CPPD patients.
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Síndrome Coronariana Aguda , Condrocalcinose , Mortalidade Hospitalar , Humanos , Feminino , Síndrome Coronariana Aguda/epidemiologia , Síndrome Coronariana Aguda/mortalidade , Síndrome Coronariana Aguda/complicações , Masculino , Idoso , Estados Unidos/epidemiologia , Pessoa de Meia-Idade , Condrocalcinose/epidemiologia , Condrocalcinose/complicações , Estudos de Coortes , Hospitalização/estatística & dados numéricos , Idoso de 80 Anos ou mais , Tempo de Internação/estatística & dados numéricos , Pacientes Internados/estatística & dados numéricos , ComorbidadeRESUMO
Introduction: Systemic Lupus Erythematosus (SLE) is an autoimmune disease associated with an increased risk of cardiovascular diseases (CVDs), leading to elevated mortality rates among patients. We aimed to evaluate the levels of cardio-ankle vascular index (CAVI), global longitudinal strain (GLS), ventricular-arterial coupling (VAC), and high-sensitivity cardiac troponin I (hsTnI) in SLE patients and to explore their relationship with clinical parameters. Methods: This cross-sectional study enrolled 82 SLE patients without evident cardiac or kidney impairment and 41 age- and sex-matched healthy controls. We comparatively evaluated CAVI, GLS, VAC, and hsTnI between SLE patients and controls, and we assessed their association among SLE patients with disease activity based on the SELENA-SLEDAI Activity Index. Multivariate regression analysis was performed to identify independent predictors of CAVI and hsTnI within the SLE cohort. Results: In comparison to healthy controls, SLE patients presented with significantly higher CAVI, GLS, and hsTnI levels, while VAC was significantly reduced (p < 0.001). Furthermore, SLE patients with active disease (SELENA-SLEDAI ≥ 4) exhibited higher levels of CAVI and troponin than those with inactive disease (p < 0.001). SLEDAI was an independent predictor of CAVI, while VAC and SLEDAI were independent determinants of hsTnI in the SLE cohort. Conclusions: SLE patients displayed abnormal levels of CAVI, VAC, GLS, and troponin compared to healthy individuals. Our findings implicate the potential of those CV novel CVD risk factors to refine screening and therapeutic strategies for this specific population.
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Doenças Cardiovasculares , Lúpus Eritematoso Sistêmico , Troponina I , Rigidez Vascular , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Biomarcadores/sangue , Índice Vascular Coração-Tornozelo , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/fisiopatologia , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Estudos Transversais , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/fisiopatologia , Troponina I/sangue , Rigidez Vascular/fisiologiaRESUMO
OBJECTIVES: Treatment targets in systemic lupus erythematosus (SLE) have been validated in unselected-in terms of severity-cohorts, which limits their generalisability. We assessed remission (Definition of Remission in SLE (DORIS)) and Lupus Low Disease Activity State (LLDAS) in a historical cohort of 348 patients with active moderate-to-severe disease and median follow-up of 5 years. METHODS: Active SLE was defined as Physician Global Assessment ≥1.5 and/or SLE Disease Activity Index 2000 ≥6, requiring therapy intensification. DORIS/LLDAS, organ damage, flares and adverse events were monitored. Shared frailty survival, generalised linear models and K-means clustering were applied. RESULTS: Sustained DORIS and LLDAS for ≥6 months occurred in 41.1% and 80.4%, respectively, and resulted in reduced damage accrual (HR: 0.58; 95% CI 0.36 to 0.93 and 0.61; 0.43 to 0.86) and severe flares (HR: 0.14; 0.08 to 0.27 and 0.19; 0.13 to 0.27). LLDAS without DORIS was also protective (HR: 0.65; 0.43 to 0.98 for damage, 0.49; 0.36 to 0.67 for flares). Models fitting increasing duration of targets showed that DORIS ≥50% and LLDAS ≥60% of time, or alternatively, ≥24 and ≥36 months, achieved optimal balance between feasibility (20.2-41.7%) and specificity (73.3-86.1%) for damage-free outcome. These targets were linked to reduced serious adverse events (risk ratio (RR): 0.56-0.71), hospitalisation (RR: 0.70) and mortality (RR: 0.06-0.13). Patients with predominant arthritis and mucocutaneous disease experienced reduced DORIS/LLDAS, compared with counterparts with major organ involvement. Conventional drugs were more frequently used in the former group, whereas potent immunosuppressive/biological agents in the latter. CONCLUSIONS: In moderate-to-severe SLE, sustained DORIS/LLDAS for at least 6 months is sufficient, while attainment for at least 24 months ensures higher specificity for damage-free progression, thus facilitating treat-to-target strategies and clinical trials. Arthritis and skin disease represent unmet therapeutic needs that could benefit from novel biologics.
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Artrite , Lúpus Eritematoso Sistêmico , Dermatopatias , Humanos , Artrite/tratamento farmacológico , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Indução de Remissão , Índice de Gravidade de Doença , Dermatopatias/tratamento farmacológico , Ensaios Clínicos como AssuntoRESUMO
OBJECTIVE: We aim to examine the demographics, clinical characteristics, outcomes, and resource utilization following total hip arthroplasty (THA) in patients with and without calcium pyrophosphate deposition (CPPD) disease. METHODS: We queried the National Inpatient Sample database to identify patients who underwent THA between 2006 and 2014. The ICD-9 code 81.51 was used to determine the patients who underwent THA, and of those, we classified 2 groups of patients: (i) those with ICD-9 codes defining CPPD and (ii) those without any CPPD code. Data collection included patient demographics and comorbidities. Outcomes post-THA were mortality, length of stay (LOS), and costs. Associations between CPPD and specific morbidity were evaluated with chi-square tests. T tests were used for continuous variables. RESULTS: Among the 4,111,808 patients who underwent THA, 6198 (0.15 %) had CPPD, with a mean age of 77 years and 64.2 % were females. CPPD patients were more likely to be older (mean age 77 vs 72.7 years; p<0.001) than non-CPPD patients. The Charlson Comorbidity Index score ≥ 2 was more frequently seen in CPPD, however, the mortality post-THA was lower in the CPPD patients (0.7 % vs 1.7 %, OR 0.35, 95 % CI 0.26- 0.47). THA in CPPD patients was associated with a longer mean length of stay (LOS) (6.04 vs 5.15 days, OR 1.15, 95 % CI 1.09-1.22) while mean total charges were not statistically different between the 2 groups (p = 0.344). CPPD patients were more likely to be discharged to rehabilitation or other nursing facilities (42.5 % vs 35.3 %, p<0.001). The number of THA procedures increased in both CPPD and non-CPPD patients over time. CONCLUSIONS: CPPD patients who underwent THA were more likely to be older, with a greater comorbidity burden, longer LOS and discharged to a non-home setting.
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Artroplastia de Quadril , Condrocalcinose , Feminino , Humanos , Idoso , Masculino , Complicações Pós-Operatórias/epidemiologia , Tempo de Internação , Pacientes Internados , Pirofosfato de Cálcio , Fatores de Risco , Estudos RetrospectivosRESUMO
BACKGROUND: Qualitative data on how the COVID-19 pandemic has affected the lives of people with rheumatic and musculoskeletal diseases (RMDs) in different European countries are lacking. OBJECTIVES: To describe the impact of the first two waves of the COVID-19 pandemic on people with inflammatory RMDs concerning (self)management of their disease, interaction with the health care team, emotional well-being and overall health. METHODS: A mixed-methods study of adults (>18 years) with RMDs on immunosuppression from Cyprus, England, Greece, and Portugal took part on online focus groups (FG) after the first wave (July-August, 2020). The data was transcribed verbatim and thematically analyzed. Informed by the qualitative findings, a follow-up survey was developed for the same participants after the second wave, allowing to compare the perceived impact. RESULTS: Twenty-four patients (6 from each country; 21 women; 33-74 years range) participated. Three key themes were identified (with 3-7 subthemes each), focusing on the impact of COVID-19 on the: (i) individual, (ii) health settings, and (iii) work and community. Overall, qualitative results were similar across countries. The follow-up survey during the second wave highlighted a worsening of psychosocial aspects, e.g. sleep problems, stress, and isolation. CONCLUSIONS: People with RMDs felt vulnerable and anxious, specifically about how to cope with isolation and difficulties in communicating with healthcare providers. The second wave had a more significant impact on patients. Healthcare providers and policymakers need to consider measures to ameliorate the longer-term impact that many may still face.
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COVID-19 , Doenças Musculoesqueléticas , Adulto , Humanos , Feminino , COVID-19/epidemiologia , Pandemias , Doenças Musculoesqueléticas/epidemiologia , Portugal , ChipreRESUMO
OBJECTIVES: To systematically assess the magnitude of suicidal behavior among PsA patients and identify associated risk factors. Also identify common genes or coinherited single nucleotide polymorphisms (SNPs) implicated in suicidal behavior and PsA. METHODS: Based on the PRISMA guidelines, we conducted a systematic literature review of the online databases PubMed/Medline, Web of Science, and EMBASE from inception to May 2022. Full-text original articles that describe suicidal behavior in PsA patients were eligible. All registered genome-wide association study (GWAS) data in the GWAS catalog database for PsA and psychiatric traits, such as suicidal behavior, and depression, were downloaded for further analysis. RESULTS: A total of 48 articles were identified, and 6 were relevant to the study question .Among the 122,160 PsA patients, 700 had suicidal behavior (0,57%). The range of age in one study was between 30 and 49 years, and 64% of PsA patients with suicidal behavior were female. Among 13,899 PsA patients 74 had suicidal ideation (0.53%) and 125 suicide attempts occurred (0.9%). In two studies, among 17,383 patients, 13 complete suicides occurred (0.07%). A genetic haplotype on chromosomal region 6p21.1, spanning from 29,597,596 to 32,251,264 Mb, contains predisposing SNPs for PsA and depression. 6p21.1-6p21.3 is the chromosomal region containing the HLA genes of classes I, II and III. CONCLUSION: Suicide behavior in PsA patients was associated with depression and other psychiatric comorbidities. Further evidence supports a genetic origin, at least partly. Awareness of these findings can help clinicians to recognize suicide behavior and prevent suicide attempts.
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Artrite Psoriásica , Ideação Suicida , Humanos , Feminino , Lactente , Masculino , Artrite Psoriásica/genética , Estudo de Associação Genômica Ampla , Desequilíbrio de Ligação , Tentativa de Suicídio/psicologia , Fatores de RiscoRESUMO
The neutrophil-to-lymphocyte ratio (NLR) emerged as a potential biomarker in SLE, but its association with several outcomes remains unclear. We aimed to evaluate the relationship between NLR and SLE disease activity, damage, depression, and health-related quality of life. A cross-sectional study was conducted, including 134 patients with SLE who visited the Division of Rheumatology between November 2019 and June 2021. Demographics and clinical data including NLR, Safety of Estrogens in Lupus Erythematosus National Assessment-Systemic Lupus disease activity index (SELENA-SLEDAI), Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI), physician global assessment (PhGA), patient global assessment (PGA), patient health questionnaire (PHQ)-9, patient self-rated health, and lupus quality of life (LupusQoL) scores, were collected. Patients were stratified into two groups and compared using the NLR cut-off of 2.73, the 90th percentile value of healthy individuals. The analysis included t-test for continuous variables, χ2-test for categorical variables, and logistic regression adjusting for age, sex, BMI, and glucocorticoid use. Among the 134 SLE patients, 47 (35%) had an NLR ≥ 2.73. The NLR ≥ 2.73 group had significantly higher rates of severe depression (PHQ ≥ 15), poor/fair self-rated health, and the presence of damage (SDI ≥ 1). These patients also scored significantly lower in LupusQoL domains (physical health, planning, and body image), and higher in SELENA-SLEDAI, PhGA, and PGA. Logistic regression confirmed that high NLR is associated with severe depression (PHQ ≥ 15) (OR:7.23, 2.03-25.74), poor/fair self-rated health (OR:2.77,1.29-5.96), high SELENA-SLEDAI score(≥ 4) (OR:2.22,1.03-4.78), high PhGA (≥ 2) (OR:3.76, 1.56-9.05), and presence of damage (SDI ≥ 1) (OR:2.67, 1.11-6.43). High NLR in SLE may indicate depression, worse quality of life, active disease, and the presence of damage.
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Lúpus Eritematoso Sistêmico , Qualidade de Vida , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/complicações , Estudos Transversais , Depressão , Neutrófilos , Índice de Gravidade de DoençaRESUMO
Pulmonary Hypertension (PH) is a common manifestation in patients with Systemic Lupus Erythematosus (SLE) and varies from asymptomatic to life-threatening disease. PH can result not only from immune system dysregulation, but also from various conditions, including cardiorespiratory disorders and thromboembolic diseases. Most commonly, SLE-related PH presents with non-specific symptoms, such as progressive dyspnea on exertion, generalized fatigue and weakness and eventually dyspnea at rest. Prompt diagnosis of SLE-related PH and early identification of the underlying pathogenetic mechanisms is demanded in order to introduce targeted therapy to prevent irreversible pulmonary vascular damage. In most cases the management of PH in SLE patients is similar to idiopathic pulmonary arterial hypertension (PAH). Furthermore, specific diagnostic tools like biomarkers or screening protocols, to establish early diagnosis seem to be not available yet. Although, the survival rates for patients with SLE-related PH vary between studies, it is evident that PH presence negatively affects the survival of SLE patients.
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Hipertensão Pulmonar , Lúpus Eritematoso Sistêmico , Tromboembolia , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Hipertensão Pulmonar Primária Familiar , DispneiaRESUMO
BACKGROUND: Several studies have shown that autoimmune diseases are associated with psychiatric diseases like depression and psychosis. Genetic evidence supports this association. The aim of this study was to investigate if genetic variants predisposing to autoimmune diseases and psychiatric disorders are genetically linked, constructing the common haplotypes. METHODS: All registered single nucleotide polymorphisms (SNPs) in the Genome-wide association studies ("GWAS catalog") having been associated with autoimmune rheumatic and endocrine diseases were investigated for being in linkage disequilibrium with any psychiatric disorders' associated SNPs. Analysis was performed by the LDtrait and LDhap bioinformatics tools. RESULTS: Multiple chromosomal regions have been detected containing rheumatic/endocrine diseases' predisposing SNPs and psychiatric disorders' predisposing SNPs. The genetic haplotypes have been constructed for some of these genetic regions. Six of the autoimmune rheumatic and endocrine diseases examined here share a common haplotype with psychiatric diseases at the HLA locus 6p21-22. CONCLUSION: Our study shows that autoimmune diseases and psychiatric diseases are genetically linked. Genetic haplotypes have been constructed, showing in detail this genetic linkage.
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Doenças Autoimunes , Doenças do Sistema Endócrino , Transtornos Mentais , Humanos , Haplótipos , Estudo de Associação Genômica Ampla , Predisposição Genética para Doença/genética , Desequilíbrio de Ligação , Transtornos Mentais/genética , Doenças Autoimunes/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Granulomatous mastitis (GM) is a benign, inflammatory condition of the breast that mainly affects women of reproductive age. Although its pathogenesis remains unknown, previous studies revealed an association between autoimmune rheumatic diseases (ARDs) and GM in a subset of patients implicating immune-mediated mechanisms. The aim of this narrative review was to identify and describe the ARDs associated with GM to shed further light on disease pathogenesis. We conducted a comprehensive literature search of patients presenting with GM and coexisting ARDs using electronic databases. An association between GM and various ARDs has been reported, including sarcoidosis, systematic lupus erythematosus, granulomatosis with polyangiitis, psoriasis/psoriatic arthritis, familial Mediterranean fever, ankylosing spondylitis, Sjogren's syndrome, rheumatoid arthritis, and erythema nodosum, with the most common being granulomatous mastitis-erythema nodosum-arthritis syndrome (GMENA), granulomatosis with polyangiitis (Wegener's) and sarcoidosis. In addition, clinical characteristics, diagnostic and therapeutic approaches were recorded. Further research is warranted to better understand the association between GM and ARDs and raise awareness amongst rheumatologists.
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Artrite Psoriásica , Artrite Reumatoide , Doenças Autoimunes , Eritema Nodoso , Granulomatose com Poliangiite , Mastite Granulomatosa , Síndrome do Desconforto Respiratório , Doenças Reumáticas , Sarcoidose , Humanos , Feminino , Granulomatose com Poliangiite/complicações , Mastite Granulomatosa/complicações , Eritema Nodoso/complicações , Doenças Autoimunes/complicações , Artrite Reumatoide/complicações , Doenças Reumáticas/complicações , Artrite Psoriásica/complicações , Síndrome do Desconforto Respiratório/complicaçõesRESUMO
BACKGROUND AND PURPOSE: Primary Sjögren syndrome (pSS) is a chronic, systemic, autoimmune disorder characterized by lymphocytic infiltrates of the exocrine organs, leading to sicca symptoms and parotid enlargement. pSS has been linked to various neurological manifestations, including peripheral neuropathy (PN). We aimed to provide a comprehensive analysis of the currently available evidence regarding pSS-related PN. METHODS: A literature search in the PubMed database was performed, and 49 papers were eligible to be included in this systematic review and meta-analysis. RESULTS: The pooled prevalence of PN in pSS is estimated to be 15.0% (95% confidence interval = 10.7%-20.7%). The mean age of pSS patients at PN diagnosis is 59 years. Among the patients with pSS and PN, 83% are females. Neuropathic symptoms usually precede or lead to the pSS diagnosis at a 2:1 ratio in patients with pSS-related PN. The commonest type of pSS-related PN is distal axonal polyneuropathy (80% of patients with pSS-related PN), followed by sensory ganglionopathy. Peripheral and cranial mononeuropathies-particularly trigeminal-are also frequent. Risk factors for developing PN include increasing age and presence of vasculitis. Immune-mediated pathogenetic mechanisms are discussed. Glucocorticoids are the most commonly used treatment option for managing pSS-related PN, when associated with vasculitis, followed by the use of intravenous immunoglobulin. CONCLUSIONS: PN is very common in pSS patients. Evidence on long-term prognosis of PN in pSS is limited, and further research is needed. Research into the use of immunosuppressive medication in nonvasculitic neuropathies in the context of pSS merits further consideration.
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Doenças do Sistema Nervoso Periférico , Síndrome de Sjogren , Vasculite , Feminino , Humanos , Pessoa de Meia-Idade , Masculino , Síndrome de Sjogren/complicações , Síndrome de Sjogren/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/complicações , Vasculite/complicações , Imunoglobulinas IntravenosasRESUMO
BACKGROUND: Immunoglobulins (IG) are widely used for the treatment of a variety of immune-mediated diseases. The exact mechanism of action remains unknown, but IG modulate the expression and function of Fc receptors, interfere with complement activation and production of cytokines, neutralize pathogenic autoantibodies, and affect the activation and effector functions of B and T lymphocytes. Immunoglobulins are usually delivered intravenously, and are effective in ameliorating motor symptoms, and/or preventing disease progression in immune-mediated neuropathies, including Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy. OBJECTIVE: The aim of this systematic review and meta-analysis was to study the potential of IG for the treatment of painful peripheral neuropathy (PPN). The outcome of interest was the percentage of patients with PPN who achieved pain relief following IG administration. METHODS: We performed a systematic literature search on March 17, 2022, in the PubMed database without any publication date restrictions. We also looked for unpublished or ongoing trials in clinicaltrials.org. Pain reduction following IG treatment had to be within the aims (primary or secondary). RESULTS: The aforementioned literature search strategy revealed five studies (two open-label, three randomized placebo-controlled) eligible to be included. The pooled estimate of the percentage of patients with PPN who received immunoglobulins and reported pain relief was found to be 65% (95% CI 58-71%). The likelihood of achieving pain relief with immunoglobulin treatment was 2.9 times higher (95% CI 1.6-5.2) compared to placebo (p = 0.0003). CONCLUSION: The use of IG for the treatment of pain due to peripheral neuropathy has a potential therapeutic benefit. Further studies across patients with different types of painful peripheral neuropathy are needed to better characterize this effect. Registration number on PROSPERO: CRD42022319614.
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Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterised by recurrent fever attacks and serositis. Chronic inflammatory seronegative arthropathy affects the spine and peripheral joints and rarely coexists with FMF. Pyoderma gangrenosum (PG) is a neutrophilic dermatosis that manifests as an ulcerative skin disease that uncommonly occurs in patients with FMF. In this case report, we describe a male patient in his 60s with a history of FMF and chronic inflammatory seronegative arthropathy who developed ulcerative skin lesions consistent with PG. A genetic evaluation revealed a pathogenic variant (V726A) and two variants of uncertain significance (F479L and E167D) mutations in the MEFV gene. We hypothesised that the triad of FMF, chronic inflammatory seronegative arthropathy and PG might be linked to the V726A variant, while the presence of the other two variants may have amplified the clinical presentation. Further studies are warranted to confirm our observation.
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Febre Familiar do Mediterrâneo , Artropatias , Pioderma Gangrenoso , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Humanos , Masculino , Mutação , Pioderma Gangrenoso/complicações , Pirina/genéticaRESUMO
To evaluate the rheumatic diseases patient expert program and assess the students' perspective on its implementation into the medical school's curriculum. During the 4th year, small groups of medical students participated in a 2-h session with a rheumatic disease patient expert and a rheumatologist. The students had the opportunity to learn about the patient's journey, manifestations, shared thoughts, and asked questions. The patient demonstrated the hand musculoskeletal exam. At the end of the academic year, an online survey was sent to 88 students and they were asked to fill out a 19-item questionnaire using a Likert-scale response. The voluntary response rate was 67%, and 64.4% were females. Overall, most participants had a favorable experience with the program (strongly agree/agree response). 93% were satisfied with the communication they had with the patient, 93% felt the patient was active in their teaching, and 89% were engaged in meaningful learning. The vast majority of the students would recommend the program to their fellow students and they strongly believe that it should be a part of the medical school's curriculum. The findings of this study indicate the patient expert program is a novel educational activity that had a favorable impact on medical students' education and a positive perspective of implementing it to the medical school curriculum. The program's implementation will raise awareness for RMD, attract more students in the field of rheumatology, and promote the patient-centered care approach.