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1.
Int J Rheum Dis ; 27(7): e15253, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38967004

RESUMO

Antiphospholipid Syndrome (APS), characterized by hypercoagulability and pregnancy morbidity, poses a significant clinical challenge when involving organ systems, such as the endocrine system. APS can directly and indirectly influence the anterior and posterior lobes of the pituitary gland. The thyroid gland exhibits involvement, especially in patients with positive anticardiolipin antibodies, yet the clinical significance of the relationship with APS remains elusive. The pancreas, often overlooked, manifests in diverse ways, from pancreatitis to implications in diabetes. Adrenal insufficiency emerges as a common endocrine manifestation of APS, with adrenal hemorrhage or infarction being a presenting manifestation. Adrenal gland involvement has also been reported in the context of catastrophic APS. Pregnancy complications and infertility might be effects of APS on the female ovaries, while testicular torsion and decreased sperm concentration and total sperm count have been reported as rare effects of APS on male testes.


Assuntos
Síndrome Antifosfolipídica , Humanos , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/imunologia , Feminino , Masculino , Gravidez , Fatores de Risco , Prognóstico , Complicações na Gravidez/etiologia , Complicações na Gravidez/diagnóstico , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/etiologia , Pancreatopatias/etiologia , Pancreatopatias/diagnóstico
2.
J Voice ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39025751

RESUMO

OBJECTIVE: To investigate the prevalence of phonatory disorders and their impact on quality of life in a cohort of patients with fibromyalgia (FMS), and to review the literature. STUDY DESIGN: Prospective cohort study. METHODS: All adult patients presenting to the rheumatology clinic at a tertiary referral center between January 2024 and April 2024 and diagnosed with FMS were prospectively recruited. The primary outcome measure used to screen for dysphonia was the Voice Handicap Index-10 (VHI-10). All patients were also asked to fill the Fibromyalgia Rapid Screening Tool (FiRST) and the short form of the McGill pain questionnaire (SF-MPQ). RESULTS: A total of 70 female patients were included, divided equally into a study and control group (n = 35). The mean FiRST score and the mean SF-MPQ score were significantly higher in the study group compared to the control group (6.20 ± 1.05 vs 1.26 ± 1.65) and (26.14 ± 13.16 vs 2.6 ± 4.23), respectively. There was a statistically significant difference in the mean VHI-10 score between the study group and the control group (8.51 ± 7.66 vs 0.74 ± 0.98; P < 0.001). More than one third of patients in the study group had a VHI-10 score above 11 (37.1%) compared to none in the control group (P < 0.001). There was a strong positive correlation between the VHI-10 score and the FiRST and SF-MPQ scores (r = 0.612; P < 0.001 and r = 0.794; P < 0.001, respectively). CONCLUSION: The findings suggest that two out five patients with FMS have vocal complaints that impact their quality of life. Healthcare providers need to recognize these phonatory disorders, that are often masked by other systemic manifestations of the disease.

4.
Mediterr J Rheumatol ; 35(1): 192-194, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38736949

RESUMO

Various muscles can be involved in idiopathic eosinophilic myositis (IEM), with the ocular muscles being notably affected. Ocular eosinophilic myositis is a rare condition that typically affects the rectus muscles. A tissue biopsy stands as the gold standard for diagnosis. Different subtypes exist based on the extent of eosinophilic infiltration. Limited data is available about treatment, although glucocorticoids have shown successful outcomes. We present the case of a 60-year-old man who, a few years after being diagnosed with ocular myasthenia gravis, was diagnosed through a tissue biopsy with ocular eosinophilic myositis. Treatment with oral glucocorticoids significantly improved his symptoms.

5.
Sarcoidosis Vasc Diffuse Lung Dis ; 41(1): e2024007, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38567561

RESUMO

While sarcoidosis is typically a multisystem disease, it can, in some instances, exclusively affect the vertebrae, leading to back pain. Additionally, sarcoidosis may manifest with inflammation of the sacroiliac joints, not meeting the criteria for spondyloarthritis, yet contributing to back pain. In this report, we present a case involving a previously healthy 55-year-old woman who sought medical attention due to chronic back pain. She was subsequently diagnosed with spinal sarcoidosis, based on MRI, PET scan, and biopsy results. Furthermore, treatment with prednisolone monotherapy demonstrated substantial improvement in her symptoms.

7.
Cureus ; 15(10): e46412, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37927643

RESUMO

Sjögren's syndrome (SS) has been widely known for its dry mouth and dry eyes presentation. Extraglandular disease manifestations may be protean and pose a challenge for clinicians, especially when the typical known manifestations are absent. Skin involvement of SS is variable, and cutaneous signs and symptoms may be the initial presentation of this syndrome. Vacuolar interface dermatitis has been linked to dermatomyositis and systemic lupus erythematosus, but rarely to SS. Herein, we present the case of an 87-year-old man who presented for widespread itchy erythematous scaly plaques that were refractory to topical corticosteroids as well as discontinuation of possible offending medications. A biopsy demonstrated vacuolar interface dermatitis in the setting of strongly positive anti-SSA. Hydroxychloroquine treatment was effective in resolving the plaques.

8.
Open Access Rheumatol ; 15: 93-102, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37273763

RESUMO

There is a significant variation in symptoms and clinical presentation of connective tissue disorders (CTD) associated with interstitial lung disease (ILD) (CTD-ILD). This presents difficulties in the diagnosis and treatment of CTD-ILD. Early detection and treatment of CTD-ILD using a multidisciplinary approach have been shown to enhance patient outcomes. This exercise aims to explore clinical components to develop a screening tool for pulmonologists for early detection of CTD in ILD and to provide a framework for a multidisciplinary approach in managing CTD-ILD. This in turn will lead to early treatment of CTD-ILD in collaboration with rheumatologists. A panel of 12 leading rheumatologists from the Middle East and North Africa (MENA) region met virtually to select the most relevant clinical findings to aid in identifying CTD-ILD. Twelve panellists opted to investigate seven of the most common inflammatory autoimmune disorders. The panel discussed how to improve the early detection of CTD-ILD. Clinical characteristics were categorized, and a nine-item questionnaire was created. A biphasic algorithm was developed to guide early referral to a rheumatologist based on the presence of one of nine clinical features of CTD (Phase 1) or the presence of CTD-specific antibodies (Phase 2). A brief questionnaire has been developed to serve as a simple and practical screening tool for CTD-ILD detection. Additional research is needed to validate and evaluate the tool in longitudinal cohorts.

9.
Artigo em Inglês | MEDLINE | ID: mdl-37152614

RESUMO

Sarcoidosis can have pulmonary and extrapulmonary clinical manifestations depending on the organ of involvement. Because multiple organs are involved by the disease, sarcoid can mimic metastatic diseases. Whenever clinical and radiological clues of metastasis are present, differentials other than cancer should not be missed. Herein, we present a case of a middle aged gentleman who presented to the oncology clinic for 1-month history of low back pain associated with a dry cough along with radiological findings of metastatic disease involving the lungs, liver, lymph nodes, axial spine, and adrenal gland. A biopsy of the liver lesion showed non-caseating granuloma. Elevated blood levels of angiotensin-converting enzyme confirmed the diagnosis of sarcoidosis.

10.
Lupus ; 32(5): 593-602, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36940089

RESUMO

Cerebrovascular accidents (CVAs) or strokes are part of the common thrombotic manifestations of Systemic Lupus Erythematosus (SLEs) and Antiphospholipid syndrome (APS). Such neurological thrombotic events tend to occur in patients with SLE at a higher frequency when Antiphospholipid antibodies (aPLs) are present, and tend to involve the large cerebral vessels. The mechanism of stroke in SLE can be driven by complement deposition and neuroinflammation involving the blood-brain barrier although the traditional cardiovascular risk factors remain major contributing factors. Primary prevention with antiplatelet therapy and disease activity controlling agent is the basis of the management. Anticoagulation via warfarin had been a tool for secondary prevention, especially in stroke recurrence, although the debate continues regarding the target international normalized ratio (INR). The presence of either of the three criteria antiphospholipid antibodies (aPLs) and certain non-criteria aPL can be an independent risk factor for stroke. The exact mechanism for the involvement of the large cerebral arteries, especially in lupus anticoagulant (LAC) positive cases, is still to be deciphered. The data on the role of non-criteria aPL remain very limited and heterogenous, but IgA antibodies against ß2GPI and the D4/5 subunit as well as aPS/PT IgG might have a contribution. Anticoagulation with warfarin has been recommended although the optimal dosing or the utility of combination with antiplatelet agents is still unknown. Minimal data is available for direct oral anticoagulants (DOACs).


Assuntos
Síndrome Antifosfolipídica , Lúpus Eritematoso Sistêmico , Acidente Vascular Cerebral , Trombose , Humanos , Síndrome Antifosfolipídica/complicações , Varfarina , Lúpus Eritematoso Sistêmico/complicações , Anticorpos Antifosfolipídeos , Inibidor de Coagulação do Lúpus , Acidente Vascular Cerebral/induzido quimicamente , Trombose/prevenção & controle , Anticoagulantes/efeitos adversos
11.
SAGE Open Med Case Rep ; 11: 2050313X231154316, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36776209

RESUMO

The coronavirus disease has several manifestations related to the activation of the immune system. Because of such activation, autoimmune diseases, including vasculitis, have been reported to occur. Behçet's disease, a variable vessel vasculitis, has been discussed in the context of coronavirus disease. Rarely, the induction of Behçet's disease flare or exacerbation has been reported necessitating aggressive treatment. The presentation of Behçet's disease flares secondary to coronavirus disease is variable, including mucocutaneous lesions and eye or joint involvement. We highlight the case of a 35-year-old woman with pre-existing Behçet's disease in remission on colchicine presenting with new onset erythema nodosum-like lesions on her right shin being diagnosed with coronavirus disease infection a few days after. Despite treatment with systemic corticosteroid, the lesions did not resolve, necessitating the initiation of anti-interleukin-6 therapy.

12.
Nephron ; 147(2): 103-107, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35850104

RESUMO

Coronavirus disease (COVID-19) vaccine can alter the body's immunological balance leading to autoimmune disease in rare cases. Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is one of the autoimmune diseases which have been rarely reported to appear post-COVID-19 vaccine. Herein, we report the case of a 47-year-old woman who developed acute renal failure few days after receiving the first dose of the Pfizer-BioNTech COVID-19 vaccine. Corticosteroids along with azathioprine were used for the management.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , COVID-19 , Feminino , Humanos , Pessoa de Meia-Idade , Vacina BNT162 , Vacinas contra COVID-19/efeitos adversos , COVID-19/prevenção & controle , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/etiologia , Azatioprina
13.
Connect Tissue Res ; 64(3): 238-247, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36541851

RESUMO

PURPOSE: This manuscript will summarize the role of pro-inflammatory cytokines and tackle newly discussed ones within the scope of OA pathogenesis as mentioned in the recent literature. This will allow for a better understanding of the mechanisms behind such a complicated disease. MATERIAL AND METHODS: Relevant articles were obtained by searching key terms including "pro-inflammatory cytokines," "inflammation," "pathophysiology," "cartilage damage," and "OA" in PubMed and Google Scholar databases. The year ranges set for the selection of the articles was between 2015 -2021. Inclusion criteria was based on the relevance and contribution to the field of the study. RESULTS: Osteoarthritis (OA) has a complex multifactorial pathophysiology which is attributed to molecular and biomechanical changes that disrupt the normal balance of synthesis and degradation of articular cartilage and subchondral bone. Pro-inflammatory cytokines, with their wide range of action and intricate signaling pathways, are the constant subject of new discoveries revolving around this inflammatory disease. The available literature indicates that some of these cytokines such as IL-33, IL-17, IL-6, and IL-22 have a direct relation to cartilage degradation, while others like IL-15, IL-1, IL-7, and IL-34 have an indirect one. CONCLUSIONS: Inflammation has an essential role in the manifestation of osteoarthritis clinical events. Specifically, certain cytokines exhibit pro-inflammatory properties that are markedly activated during the course of the disease and notably alter the homeostasis of the joint environment. However, clinical trials and observational studies remain insufficient to navigate the varying nature of this disease in humans.


Assuntos
Cartilagem Articular , Osteoartrite , Humanos , Osteoartrite/patologia , Interleucinas/metabolismo , Citocinas/metabolismo , Cartilagem Articular/patologia , Inflamação/patologia
14.
Blood Rev ; 58: 101015, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36175215

RESUMO

Thrombotic complications are a hallmark of antiphospholipid syndrome (APS). These vascular - arterial, venous, and/or small vessel - complications are well described and known to hematologists and healthcare providers caring for patients with this disease. In this review, we shed light on other hematological manifestations of the disease, including bleeding, thrombocytopenia, autoimmune hemolytic anemia, and thrombotic microangiopathy syndromes. While these manifestations are not bona fide clinical criteria for the diagnosis of APS, they frequently interact and contribute to the complexity of clinical management of APS.


Assuntos
Anemia Hemolítica Autoimune , Síndrome Antifosfolipídica , Doenças Cardiovasculares , Trombocitopenia , Trombose , Humanos , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/terapia , Trombose/diagnóstico , Trombose/etiologia , Trombocitopenia/diagnóstico , Trombocitopenia/etiologia , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/etiologia , Anemia Hemolítica Autoimune/terapia
15.
Nat Genet ; 54(11): 1640-1651, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36333501

RESUMO

Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-mapping resolution and performances of polygenic risk scores (PRS). Here, we present a large-scale genome-wide association study (GWAS) of RA, which includes 276,020 samples from five ancestral groups. We conducted a multi-ancestry meta-analysis and identified 124 loci (P < 5 × 10-8), of which 34 are novel. Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues (for example, WISP1) in RA etiology. Multi-ancestry fine-mapping identified putatively causal variants with biological insights (for example, LEF1). Moreover, PRS based on multi-ancestry GWAS outperformed PRS based on single-ancestry GWAS and had comparable performance between populations of European and East Asian ancestries. Our study provides several insights into the etiology of RA and improves the genetic predictability of RA.


Assuntos
Artrite Reumatoide , Estudo de Associação Genômica Ampla , Humanos , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Povo Asiático/genética , Artrite Reumatoide/genética , Proteínas Adaptadoras de Transdução de Sinal/genética
16.
Mediterr J Rheumatol ; 33(2): 218-223, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36128213

RESUMO

Objectives: The aim of the Lebanese hospital-based Rheumatoid Arthritis (RA) registry, initiated in 2011, is to evaluate the safety and efficacy of biologic agents among patients seeking care at the American University of Beirut Medical Center (AUBMC). We aimed to characterize the demographic and clinical profile of RA patients included in the Lebanese registry. We compared our results with those issued from Middle Eastern and non-Middle Eastern registries. Methods: 195 Patients enrolled in the RA registry from 2011 to 2018 were considered in this study. Patients enrolled in the registry were eligible to be treated with biologics, but 56 patients remained biologics naïve. Patients were reassessed every six months. Results: The highest proportion of patients were female (81%). The mean age was 55.53±15 years, and the disease duration was 11.38±7.7 years. RA was diagnosed at a mean age of 44.13±16 years. Almost one-third of RA patients were smokers (29.2%) and 15% consumed alcohol. Comorbidities included cardiac diseases (30.8%), hypertension (24.6%), hyperlipidemia (11.8%), diabetes mellitus (9.2%), and Hypothyroidism (6.2%). Three cases of cancer and seven cases of tuberculosis were reported. The mean of the Disease Activity Score (DAS28) was 3.75 ± 2.28 with no difference according to gender; the mean of the Health Assessment Questionnaire (HAQ) score showed a significant difference between females and males (1.02 ± 0.84 and 0.61 ± 0.7 respectively). Methotrexate was the most commonly used medication. There was non-significant difference in taking biologics according to gender. Conclusion: Our findings are similar to other studies in terms of gender distribution. The higher mean age at diagnosis compared to other populations could indicate a delay in seeking appropriate care. The Lebanese RA registry provides valuable data on pharmacological interventions used and an opportunity to follow up to examine the effectiveness of different therapeutics and to monitor their side effects.

17.
Musculoskeletal Care ; 20(4): 742-757, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35384265

RESUMO

BACKGROUND: Bechet's disease (BD), a chronic multiorgan involving disease, has a significant impact on quality of life in spite of effective treatment modalities. Disease manifestations such as arthritis, orogenital ulcerations, rashes, angiitis, and neurological involvement affect health-related quality of life (HRQoL) through its impact on depression, anxiety, and fatigue. OBJECTIVES: We aimed explore the psychological impact of BD, taking into consideration the effect on the HRQoL, as well as the association with depression, anxiety, wellbeing, and fatigue. METHODS: This is a narrative review of the literature that looks into the association of BD on the HRQoL including all studies that have assessed such as association. RESULTS/FINDINGS: Depression and anxiety are prevalent among patients with BD, and contribute significantly to fatigue, a common symptom among BD patients. In addition, the psychological wellbeing is affected by the disease, however, more studies are needed to assess this relationship. CONCLUSION: Depression and anxiety are strongly associated with BD, and contribute significantly to fatigue, a common symptom among BD patients. In addition, the psychological wellbeing is affected by the disease, however, more studies are needed to assess this relationship. Besides, the controlling factors of the psychological impact are still to be deciphered.


Assuntos
Síndrome de Behçet , Humanos , Síndrome de Behçet/complicações , Qualidade de Vida
19.
Clin Med Insights Case Rep ; 15: 11795476221083114, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35283656

RESUMO

Cerebral vasculitis is a very rare extra-articular complication of rheumatoid arthritis (RA) that is often challenging to diagnose. Elevated titers of rheumatoid factor (RF), anti-cyclic citrullinated peptide antibodies (anti-CCP), and antinuclear antibodies (ANA) have been linked with severe complications. The absence of highly elevated titers of RF, anti-CCP, and ANA can complicate the diagnosis of RA-associated cerebral vasculitis. We report the case of a 59-year-old woman with long-standing arthritis maintained on rituximab and leflunomide who developed sudden headaches and altered level of consciousness. Laboratory work-up revealed normal lymphocyte count and mildly elevated total serum protein and anti-CCP with negative RF and ANA and no evidence for viral or bacterial infections. Cerebrospinal fluid analysis (CSF) showed slightly elevated anti-CCP with normal levels of CXCL-13 and interleukin 6 (IL-6). Brain magnetic resonance imaging (MRI) showed ill-defined lesion of high T2 signal. Using MR angiogram, MR perfusion, and MR spectroscopy, the diagnosis of rheumatoid cerebral vasculitis was confirmed. The patient was treated with intravenous methyl-prednisolone with fast complete improvement. We conclude that adequate immunosuppression in RA might not be able to prevent rare extra-articular manifestations such as rheumatoid cerebral vasculitis.

20.
Artigo em Inglês | MEDLINE | ID: mdl-35185345

RESUMO

Since its initial description in the late 19th century, sarcoidosis has been extensively studied. Although the general mechanism of immune activation is known, many details especially in the context of disease associations are still missing. One of such associations is the musculoskeletal complications that are widely variable in terms of presentation and response to treatment. Sarcoidosis can involve the joints leading to acute and, less commonly chronic, arthritis. While acute arthritis is mostly self-resolving in nature, chronic arthritis may lead to deformity and destruction of the joint. Sarcoidosis can also involve the muscles, leading to different pathologies primarily categorized according to the clinical presentation, despite the efforts to find a new classification based on imaging, histological, and clinical findings. The bones can be directly and indirectly affected. Different types of bone lesions have been described, although around half of these patients remain asymptomatic. Osteoporosis, increased risk of fractures, hypercalcemia, and hypercalciuria are examples of the indirect effect of sarcoidosis on the bones, possibly contributed to elevated levels of calcitriol. Nevertheless, sarcoidosis can be associated with small-vessel, medium-vessel, and large vessel vasculitis, although it is frequently difficult to differentiate between the co-existence of a pure vasculitis and sarcoidosis and sarcoid vasculitis.

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