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Moyamoya disease is a rare chronic progressive cerebrovascular disease. The etiology of moyamoya disease has not been established yet. If an underlying cause is detected, moyamoya disease is called moyamoya syndrome. A 27-year-old right-handed male was admitted to an external medical center with recurrent severe headaches, vomiting, and seizures. He was diagnosed with prolactinoma as a result of cranial magnetic resonance imaging and blood tests. After three months, he presented again with headache and left-sided weakness affecting both his arm and leg. Head and neck computed tomography angiography showed critical stenosis in the right distal internal carotid artery (ICA), in the right supraclinoid ICA, in the left supraclinoid ICA, and occlusion in the right ICA and middle cerebral artery. Digital subtraction angiography was performed following a preliminary diagnosis of Behçet's disease due to HLA B51 positivity. However, the results did not support a diagnosis of neuro-Behçet's but were instead indicative of moyamoya disease. This is the third case in which prolactinoma and moyamoya disease occur together. Moyamoya disease is a very rare chronic disease that mostly affects the cranial vessels. Patients can apply with very different complaints that may mimic other diseases. [ABSTRACT FROM AUTHOR]

Moyamoya disease is a rare chronic progressive cerebrovascular disease. The etiology of moyamoya disease has not been established yet. If an underlying cause is detected, moyamoya disease is called moyamoya syndrome. A 27-year-old right-handed male was admitted to an external medical center with recurrent severe headaches, vomiting, and seizures. He was diagnosed with prolactinoma as a result of cranial magnetic resonance imaging and blood tests. After three months, he presented again with headache and left-sided weakness affecting both his arm and leg. Head and neck computed tomography angiography showed critical stenosis in the right distal internal carotid artery (ICA), in the right supraclinoid ICA, in the left supraclinoid ICA, and occlusion in the right ICA and middle cerebral artery. Digital subtraction angiography was performed following a preliminary diagnosis of Behçet’s disease due to HLA B51 positivity. However, the results did not support a diagnosis of neuro-Behçet’s but were instead indicative of moyamoya disease. This is the third case in which prolactinoma and moyamoya disease occur together. Moyamoya disease is a very rare chronic disease that mostly affects the cranial vessels. Patients can apply with very different complaints that may mimic other diseases.

PurposeMethodsResultsConclusionsTo examine the demographic characteristics, findings and complication rates in patients with Behçet’s uveitis (BU) and to investigate the effect of early biological therapy on the development of complications.Medical records of 94 patients with BU were retrospectively reviewed. Demographic data, ocular findings and complications at presentation, complications during follow-up, and treatments received during follow-up were analyzed. Patients who were followed for at least 24 months were divided into two groups according to the time of presentation as Group 1 (between 2009 and 2015) and Group 2 (between 2016 and 2021). Complications at the time of presentation and during follow-up, and treatments were compared.We enrolled 94 patients with a male-to-female ratio of 1.94 with a mean age of 30 ± 12 years. Median follow-up was 58.1(12–163) months. There were 35 patients (66 eyes) in Group 1 and 33 patients (61 eyes) in Group 2. At the time of presentation, end-stage disease, cataract, epiretinal membrane, and optic atrophy were significantly more common in Group 1 than in Group 2 (p < 0.05). A significantly higher proportion of eyes in Group 1 developed macular edema, cataract, epiretinal membrane, and macular atrophy during-follow-up (p < 0.05). Median time to initiation of biological treatment was 17.29 months in Group 1 and 3.33 months in Group 2 (p < 0.001). The overall complication rate was significantly lower in Group 2.Prognosis of BU is improved after the introduction of biological treatment. Early use of biological agents in BU is effective in decreasing sight-threatening ocular complications. [ABSTRACT FROM AUTHOR]

Objective: This study aims at evaluating the cost-of-illness (COI) of patients diagnosed with Behcet's syndrome (BS) in Italy, trying to depict the impact of different costs' components to the overall economic burden and analysing the variability of costs according to years since diagnosis and age at first symptoms. Methods: With a cross-sectional evaluation, we surveyed a large sample of BS patients in Italy assessing several dimensions related to BS, also including fact related to the use of health resources utilization, formal and informal care, and productivity losses. Overall costs, direct health, direct non-health, and indirect costs were thus estimated per patient/year considering a Societal perspective and the impact of years since diagnosis, age at first symptoms on costs was evaluated using generalized linear model (GLM) and a two-part model, adjusting for age and distinguishing among employed and non-employed responders. Results: A total of 207 patients were considered in the present study. From the perspective of the Society, mean overall costs for BS patient were estimated to be 21,624 € (0;193,617) per patient/year. Direct non-health expenses were the main costs component accounting for 58% of the overall costs, followed direct health costs, 36%, while indirect costs because of productivity losses represented 6% of the overall costs. Being employed resulted in significantly lower overall costs (p = 0.006). Results from the multivariate regression analyses suggested that the probability of incurring in overall costs equal to zero decreased as time from BS diagnosis is 1 year or more as compared to newly diagnosed patients (p < 0.001); while among those incurring in expenses, costs decreased for those experiencing first symptoms between 21 and 30 years (p = 0.027) or later (p = 0.032) as compared to those having symptoms earlier. Similar findings emerged among the subgroups of patients declaring themselves as workers, while no impact of years since diagnosis or age of first symptoms was found among non-workers. Conclusions: The present study offers a comprehensive overview of the economic consequences imposed by BS in a societal perspective, providing insights into the distribution of the different costs component related to BS, thus helping the development of targeted policies. [ABSTRACT FROM AUTHOR]

Behçet's Syndrome (BS) is a chronic vasculitis of unknown etiology. Arterial involvement occurring in the pulmonary artery is associated with poor prognosis. It may cause pulmonary thrombus (PTE) and aneurysm (PAA) which may also lead to a rare complication, intracardiac thrombus. PAA and PTE can be complications of BS and are associated with high morbidity and mortality. A 30-year-old male patient had a fever of 38.4°C, recurrent oral-genital ulcers, shortness of breath, cough, and sputum. In this case report, medical history, clinical and laboratory examinations, radiography, echocardiography, and computer tomography imaging examinations were performed. PAA, PTE, intracardiac and left popliteal vein thrombosis, and infective endocarditis were present. The patient was diagnosed with BS according to the International Study Group criteria. Surgery was performed for intracardiac thrombus. Vegetation within the thrombus was demonstrated histopathologically. The patient's clinical condition and laboratory tests improved with intervention and medical treatments. The patient with BS, PAA, PTE, intracardiac thrombus, and infective endocarditis was successfully treated with pulmonary embolization, antibiotics, and systemic immunosuppression, despite its rarity, poor prognosis, and high morbidity and mortality rates. [ABSTRACT FROM AUTHOR]

To examine the long-term efficacy and safety of adalimumab (ADA) in patients with Behçet uveitis (BU). A systematic review and meta-analysis of observational studies was performed. Pooled results are presented as mean difference or standardized mean difference (std diff) and 95% confidence intervals (CI). Visual acuity (VA), intraocular inflammation grade, central macular thickness, corticosteroid (CS) sparing effect and adverse events were evaluated. Ten studies were included finally for quantitative and qualitative synthesis. ADA therapy resulted in 0.124 (95%CI: 0.084, 0.165) logMAR improvement in VA. In addition, ADA therapy resulted in decreased grade of intraocular inflammation [std diff, −1.187 (95%CI: -1.508, -0.866)] and macular thickness [std diff, −0.564 (95%CI: -0.843, -0.286)] and caused a decrease in CS dosage [std diff, −1.809 (95%CI: -2.420, -1.198)]. The pooled rate of overall adverse events for ADA in 301 patients was 8.5% (95%CI: 0.039, 0.177). ADA is an efficient therapy that improves VA and controls intraocular inflammation, macular edema and retinal vasculitis. As the disease exposure time increased, improvement in VA was less. The safety and CS-sparing effect of ADA were demonstrated with few adverse effects. The results provided evidence that ADA can be used safely and efficiently as the first-line drug in patients with BU. [ABSTRACT FROM AUTHOR]

This study aimed to investigate the roles of α9β1 integrin and its ligands in Behçet's disease (BD) by examining serum levels and gene expressions. 15 healthy controls and 30 BD patients (14 active and 16 inactive) were included in the study. Serum levels of ITGA9, ITGB1, TNC, OPN, VCAM-1, VEGF, TSP1, TGM2, Emilin-1, and vWF, were measured by ELISA. Gene expressions of α9β1 (ITGA9 and ITGB1) and its ligands (TNC and SPP1) were evaluated by RT-PCR. Laboratory findings (CRP, ESR, HGB, WBC, RBC, neutrophil, lymphocyte, PLT, RDW, MPV, PCT, and HLA-B51) were obtained from the electronic database. Active BD patients had higher serum levels of α9β1 integrin and its ligands than inactive patients and healthy controls. No significant difference was observed between healthy controls and inactive patients. Gene expressions of ITGB1 and SPP1 were increased in both patient groups compared to healthy controls. ITGA9 and TNC gene expression levels were lower in the active group than in the inactive group. No noticeable differences were found in ITGB1 and SPP1 gene expressions between the patient groups. BD patients exhibited elevated CRP, ESR, WBC, neutrophil, PLT, and PCT levels, while HGB, RBC, and RDW values were lower than healthy controls. Active patients had higher CRP, ESR, WBC, neutrophil, and PLT levels. Significant positive correlations were found between CRP, ESR, WBC, neutrophil, PLT, PCT and serum levels of α9β1 integrin and its ligands. Increased release of α9β1 integrin and its ligands is associated with BD, suggesting their potential as markers for disease severity. [ABSTRACT FROM AUTHOR]

I report a case with ocular Behçet disease presenting as hypopyon-anterior uveitis refractory to conventional immunosuppressive drugs who was safely and effectively managed for 20 years by nonstop infusions of a modern anti-TNF agent, infliximab. A 14-year-old girl who had a history of recurrent oro-genital ulcers, arthralgia, and pathergy test positivity presented with the symptoms of bilateral blurred vision, ocular pain, photophobia, and lacrimation. Initial visual acuities were 20/25 bilaterally, and biomicroscopy revealed bilateral iridocyclitis with left shifting cold hypopyon formation in the anterior chamber of the eye. The diagnosis of ocular Behçet disease was made, and topical anti-inflammatory drops were initiated with a cycloplegic agent. In due course, the child complained of chronic floaters and decreased vision from 20/25 to 20/200 bilaterally. Vitreitis, retinitis, perivasculitis, and cystoid macular edema (CME) were encountered, and the combination of corticosteroid, azathioprine, and cyclosporine-A was immediately started. However, the child did not respond to this conventional management for 3 months. A prompt and dramatic response was obtained with repeated Remicade® (infliximab) infusions (weeks 0, 2, 6, and 10), which led to fast improvement in her systemic and ocular symptoms. Long-term remission of 20 years was obtained by regular infliximab infusions at each 6- to 9-week interval with stabilized vision (20/20) and resolution of CME. The present case shows the significant role of biologicals in pediatric severe panuveitis and that nonstop infliximab infusions initiated early led to rapid and long-term control of intraocular inflammation and recurrent sight-threatening uveitis attacks for protecting the vision in children with severe OBD.

This French National Diagnostic and Care Protocol (NDPC) includes both pediatric and adult patients with non-infectious chronic uveitis (NICU) or non-infectious recurrent uveitis (NIRU). NICU is defined as uveitis that persists for at least 3 months or with frequent relapses occurring less than 3 months after cessation of treatment. NIRU is repeated episodes of uveitis separated by periods of inactivity of at least 3 months in the absence of treatment. Some of these NICU and NIRU are isolated. Others are associated with diseases that may affect various organs, such as uveitis associated with certain types of juvenile idiopathic arthritis, adult spondyloarthropathies or systemic diseases in children and adults such as Behçet's disease, granulomatoses or multiple sclerosis. The differential diagnoses of pseudo-uveitis, sometimes related to neoplasia, and uveitis of infectious origin are discussed, as well as the different forms of uveitis according to their main anatomical location (anterior, intermediate, posterior or panuveitis). We also describe the symptoms, known physiopathological mechanisms, useful complementary ophthalmological and extra-ophthalmological examinations, therapeutic management, monitoring and useful information on the risks associated with the disease or treatment. Finally, this protocol presents more general information on the care pathway, the professionals involved, patient associations, adaptations in the school or professional environment and other measures that may be implemented to manage the repercussions of these chronic diseases. Because local or systemic corticosteroids are usually necessary, these treatments and the risks associated with their prolonged use are the subject of particular attention and specific recommendations. The same information is provided for systemic immunomodulatory treatments, immunosuppressive drugs, sometimes including anti-TNFα antibodies or other biotherapies. Certain particularly important recommendations for patient management are highlighted in summary tables. [ABSTRACT FROM AUTHOR]

Behcet's disease (BD) is an autoimmune systemic inflammatory disease, and its exact pathogenesis is unknown. There are currently no specific tests to evaluate the disease activity of BD, making its management more difficult. This study aims to determine the neutrophil/albumin ratio (NAR) and C-reactive protein (CRP) to albumin ratio (CAR) and investigate their associations with clinical findings in patients with BD and to determine optimum cutoff levels of CAR and NAR. The study included 75 consecutively recruited patients with BD with a mean age of 33.29 ± 6.23 years and disease duration of 7.21 ± 4.64 years, as well as 75 healthy participants. Clinical characteristics and laboratory data were obtained. Disease activity was assessed using the BD current activity form score (BDCAF). NAR and CAR were elevated in patients with BD compared with those of healthy controls (NAR: 1.08 ± 0.34 vs. 0.607 ± 0.06, CAR: 2.49 ± 1.73 vs. 0.39 ± 0.142; p < 0.0001), as well as in active BD versus inactive BD. Both NAR and CAR were significantly correlated with CRP, active uveitis, and BDCAF score (p ≤ 0.05). In patients with active BD, the cutoff value of NAR was >0.9744 (sensitivity: 89.74%, specificity: 80.56%), while that of CAR was >2.04 (sensitivity: 74.36%, specificity: 83.33%). NAR and CAR are both elevated in patients with BD and may contribute to its active state. NAR and CAR can be feasible and inexpensive markers for predicting BD activity. [ABSTRACT FROM AUTHOR]

Over the last two decades, haematopoietic stem cell transplantation (HSCT) has been explored as a potential therapeutic strategy for autoimmune diseases refractory to conventional treatments, including neurological disorders. Although both autologous (AHSCT) and allogeneic HSCT (allo-HSCT) were investigated, AHSCT was preferentially developed due to a more favourable safety profile compared to allo-HSCT. Multiple sclerosis (MS) represents the most frequent neurological indication for AHSCT, but increasing evidence on the potential effectiveness of transplant in other autoimmune neurological diseases is emerging, although with a risk-benefit ratio overall more uncertain than in MS. In the present work, the rationale for the use of HSCT in neurological diseases and the experimental models that prompted its clinical application will be briefly covered. Case series and prospective studies exploring the use of HSCT in autoimmune diseases other than MS will be discussed, covering both frequent and rare neurological disorders such as myasthenia gravis, myopathies, and stiff-person syndrome. Finally, an updated summary of ongoing and future studies focusing on this issue will be provided. [ABSTRACT FROM AUTHOR]

I report a case with ocular Behçet disease presenting as hypopyon-anterior uveitis refractory to conventional immunosuppressive drugs who was safely and effectively managed for 20 years by nonstop infusions of a modern anti-TNF agent, infliximab. A 14-year-old girl who had a history of recurrent oro-genital ulcers, arthralgia, and pathergy test positivity presented with the symptoms of bilateral blurred vision, ocular pain, photophobia, and lacrimation. Initial visual acuities were 20/25 bilaterally, and biomicroscopy revealed bilateral iridocyclitis with left shifting cold hypopyon formation in the anterior chamber of the eye. The diagnosis of ocular Behçet disease was made, and topical anti-inflammatory drops were initiated with a cycloplegic agent. In due course, the child complained of chronic floaters and decreased vision from 20/25 to 20/200 bilaterally. Vitreitis, retinitis, perivasculitis, and cystoid macular edema (CME) were encountered, and the combination of corticosteroid, azathioprine, and cyclosporine-A was immediately started. However, the child did not respond to this conventional management for 3 months. A prompt and dramatic response was obtained with repeated Remicade® (infliximab) infusions (weeks 0, 2, 6, and 10), which led to fast improvement in her systemic and ocular symptoms. Long-term remission of 20 years was obtained by regular infliximab infusions at each 6- to 9-week interval with stabilized vision (20/20) and resolution of CME. The present case shows the significant role of biologicals in pediatric severe panuveitis and that nonstop infliximab infusions initiated early led to rapid and long-term control of intraocular inflammation and recurrent sight-threatening uveitis attacks for protecting the vision in children with severe OBD. [ABSTRACT FROM AUTHOR]

Intracardiac thrombus is an exceptional complication revealing Behçet's disease. We here report the case of a 48-year-old patient admitted with stroke. Clinical examination showed recurrent oral aphthous ulcers. Cardiovascular examination was normal, magnetic resonance imaging (MRI) objectified left posterior parietal stroke. Transthoracic echocardiogram showed totally thrombosed apical aneurysm measuring 42mm/36mm. Total-body computed tomography (CT) scan was performed to detect other abnormalities. It was normal apart from cardiac involvement. The diagnosis of Behçet's disease was made based on oral aphthous ulcers, polyarteritis nodosa and thrombosed left ventricular aneurysm. Outcome was favorable under medical treatment combining anticoagulants, corticosteroids and immunosuppression. [ABSTRACT FROM AUTHOR]

Behçet Disease is a relapsing and remitting variable vessel vasculitis characterized by recurrent mucocutaneous ulcers that can involve almost every organ system in the body. Indeed, the presence of recurrent oral or genital ulcers with other auto-inflammatory symptoms should raise suspicion for this elusive disease. It is unique among the vasculitides in that it can affect vessels of small, medium, and large size and tends to involve venous rather than arterial circulation, and its effects on the pulmonary venous circulation are particularly notable for their role in disease mortality. Classically seen in Mediterranean, Middle-Eastern, and eastern Asian countries, and relatively rare in the United States, prevalence has been increasing, prompting an increased need for internists to be aware of Behcet's clinical presentation and treatment. As early recognition and diagnosis of the disease is key to successful treatment and better prognosis, this review provides a brief summary of the current etiological theories, important clinical manifestations, and treatments including newer biologic alternatives. [ABSTRACT FROM AUTHOR]

Abstract Background We report here a case of a healthy 23-year-old female patient who was assessed at the gynecology emergency department for genital ulcers, fever, and blurred vision. After suspicion of herpes simplex virus-2 lesions, the diagnosis of Behçet’s disease was made. We report this case with the aim of including Behçet’s disease in the differential diagnosis of genital ulcers, and emphasize the emergency of the vision loss that can be irreversible. Case presentation A healthy 23-year-old European female patient was assessed by gynecology in the emergency department for genital lesions associated with fever and blurred vision. At first, these lesions were suspected to be primary herpes simplex virus-2 infection One day later, she experienced decreased visual acuity in both eyes. After 4 days of worsening genital ulcers and persistent blurred vision, the patient was referred to the ophthalmology department. Fundoscopic examination showed retinal hemorrhages that were consistent with the first presentation of Behçet’s disease. Conclusions This case demonstrates that genital ulcers can be the very initial symptom of this ophthalmologic emergency. The differential diagnosis of genital ulcers is challenging. Behçet’s disease should be included, especially when associated with systemic or ocular manifestations, and should be considered an emergency for the gynecologist to prevent long-term vision loss.

El síndrome de Hughes Stovin es una vasculitis de pequeños y grandes vasos, más frecuente en hombres jóvenes. Se manifiesta con trombosis y aneurismas. Inicia con tromboflebitis que evoluciona a aneurismas con eventual desenlace fatal por ruptura de los mismos. Algunos autores consideran el síndrome de Hughes Stovin como una variante de la enfermedad de Behçet. El diagnóstico es clínico y el tratamiento de primera línea son los corticoides y la ciclofosfamida. Frente a un caso de trombosis, la anticoagulación es controversial por el riesgo de sangrado. Presentamos el caso de un varón joven con cuadro clínico compatible en el cual se descartaron otras patologías con requerimiento de tratamiento quirúrgico por mala evolución clínica.

La enfermedad de Behçet (EB) es una vasculitis sistémica de causa desconocida.1 En el Ecuador no hay estudios epidemiológicos de la enfermedad y de su diversidad clínica, por lo que se realizó la revisión de 5 pacientes ambulatorios con EB, basados en las historias clínicas, atendidos en Hospital Santa Inés de Cuenca desde el año 2010 hasta 2022. El objetivo de analizar esta serie de casos es describir las características clínicas de mayor relevancia que nos permita el correcto y oportuno diagnóstico de esta patología.

Adamantiades-Behçet’s disease (ABD) is a chronic-relapsing multisystemic inflammatory disease with unknown etiology first described by a Greek ophthalmology Benediktos Adamantiades and a Turkish dermatology Hulusi Behçet. Any organ or apparatus may be involved, though more often there is an involvement of oral and genital mucosae as well as ocular lesions, skin features, and vascular findings. Since there is neither laboratory nor radiological pathognomonic test, the diagnosis is basically clinical according to peculiar signs and symptoms of the disease. With the purpose of giving objectivity and homogeneity to the diagnosis, many authors in time introduced a long series of diagnostic and classification criteria for Adamantiades-Behçet’s disease. This mini-review provides an overview of published diagnostic/classification criteria.

Behçet's disease (BD) is a rare autoimmune disease with an unknown aetiology. It is mostly found in the ancient "silk route" (from the Mediterranean region to the Far East). BD is a vasculitis that can involve veins and arteries of all sizes. Clinical features are dominated by oral and genital aphthous ulcers and uveitis. Central nervous system manifestations include parenchymal (80%) and non-parenchymal involvement (20%). Non-parenchymal forms can include cerebral venous thrombosis. Treatment is based on anti-inflammatory, immunosuppressive and anticoagulant agents, but it remains controversial. We report a rare case of a unilateral jugular being thrombosis revealing BD in a young Moroccan male. He was admitted due to neuro-ophthalmological manifestations (diplopia, and bilateral papilloedema). A good outcome occurred after treatment with anti-inflammatory drugs and anti-coagulation. [ABSTRACT FROM AUTHOR]

Behçet’s disease (BD) is rare in children. Herein, we report a case of 12-year-old male child with a history of left superficial femoral vein thrombosis and bilateral pulmonary embolism, admitted for multiple thrombosis located in the inferior vena cava, right atrium and ventricle associated with multiple pulmonary artery aneurisms and fissurations concomitant to oral aphthosis, which was suggestive of BD. Despite corticoids and immunosuppressive therapy, the child had a massive hemoptysis resulting in his death. The association between intracardiac thrombosis, pulmonary aneurism and venous thrombosis should raise suspicion of angio-Behçet, which could be lethal.

Amaç: Bu çalışmada parenkimal tutulumu olan Nöro-Behçet hastalarında kognitif bozukluk sıklığını ve paternini değerlendirmeyi amaçladık. Gereç ve Yöntem: Çalışmaya Cerrahpaşa Tıp Fakültesi Nöroloji Anabilim dalından takipli ve Cerrahpaşa Nörobehçet tanı kriterlerini dolduran 40 hasta dahil edildi. Olguların nörokognitif fonksiyonları seçici hatırlama testi, PASAT, görsel bellek testi, sembol sayı modaliteleri testi ve kelime akıcılığı testlerinden oluşan Brief Repeatable Battery of Neuropsychological Tests (BRB-N) ile değerlendirildi. Elde edilen sonuçlar daha önce normatif data oluşturulmak üzere kullanılan sağlıklı grup ile kıyaslandı. Bulgular: Hasta grubun ortalama hastalık yaşı 39.48±10.66 idi ve Behçet tanısından ortalama 3.3 yıl sonra Nöro-Behçet hastalığı tanısı almışlardı. Erkek hakimiyeti mevcuttu. Hasta grubun tüm nöropsikolojik test sonuçları sağlıklılara kıyasla bozulmuştu. %60 hastada dikkati sürdürmede bozulma, %55 hastada görsel hafızada etkilenme, %45 hastada yürütücü işlevlerde etkilenme, %23.5 hastada sözel hafızada etkilenme saptandı. Sonuç: Her iki hastadan birinde kognitif bozukluk tespit edildi. Gözlenen bu etkilenme sıklık sırasına göre dikkat, görsel hafıza ve yürütücü işlevlerdeydi. Bu yüksek prevelanstan dolayı Nörobehçet hastalarının klinik takibinde kognitif fonksiyonlar göz önünde bulundurulmalıdır.

BackgroundOur study aimed to evaluate the efficacy of Tocilizumab and Abatacept for treating Childhood Chronic non-infectious Uveitis (CCU), resistant to anti-tumor necrosis factor (anti-TNF) treatment.MethodsThis is a monocentric retrospective charts review study (January 2010–April 2021) recruiting CCU, refractory to anti-TNF. To be included, children should have active uveitis at the time of Tocilizumab (8 mg/kg, every 4 weeks) or Abatacept (10 mg/kg, every 4 weeks). The main outcome was the achievement of ocular remission on treatment defined as the absence of flares for ≥ 6 months.ResultsIn this study, 18 patients with CCU (14 F), previously treated with Methotrexate and Adalimumab, were enrolled: 15 had juvenile idiopathic arthritis (JIA) (83.3%), 2 idiopathic (11.1%), and 1 Behçet (5.6%). Furthermore, ten patients received Abatacept and 8 patients received Tocilizumab. The mean duration of treatment on Abatacept was 31.6 months (SD ± 30.8), on Tocilizumab 25.25 months (SD ± 17.8). In total, 13 children (72.2%) achieved remission, with a better remission rate for the Tocilizumab group (8/8) compared to the Abatacept group (5/10) (χ2 5.53, p = 0.019). No difference was evaluated between the two groups in the proportion of patients who showed flares during the treatment (2/6 Abatacept vs. 1/8 Tocilizumab). A significant difference was evaluated in the proportion of patients who flared after treatment discontinuation: 3/3 Abatacept vs. 0/3 Tocilizumab (χ2 3.8, p = 0.025).ConclusionEven though this is a monocentric retrospective study, in a relatively small group, our study suggests a superior efficacy of Tocilizumab over Abatacept for treating anti-TNF refractory CCU.

Background: We report here a case of a healthy 23-year-old female patient who was assessed at the gynecology emergency department for genital ulcers, fever, and blurred vision. After suspicion of herpes simplex virus-2 lesions, the diagnosis of Behçet's disease was made. We report this case with the aim of including Behçet's disease in the differential diagnosis of genital ulcers, and emphasize the emergency of the vision loss that can be irreversible.Case Presentation: A healthy 23-year-old European female patient was assessed by gynecology in the emergency department for genital lesions associated with fever and blurred vision. At first, these lesions were suspected to be primary herpes simplex virus-2 infection One day later, she experienced decreased visual acuity in both eyes. After 4 days of worsening genital ulcers and persistent blurred vision, the patient was referred to the ophthalmology department. Fundoscopic examination showed retinal hemorrhages that were consistent with the first presentation of Behçet's disease.Conclusions: This case demonstrates that genital ulcers can be the very initial symptom of this ophthalmologic emergency. The differential diagnosis of genital ulcers is challenging. Behçet's disease should be included, especially when associated with systemic or ocular manifestations, and should be considered an emergency for the gynecologist to prevent long-term vision loss. [ABSTRACT FROM AUTHOR]

Background: Behçet's disease (BD) is a chronic vascularinflammatory disease with unknown etiology that involves principally oral and genital mucosa, skin, and eyes. Central nervous system involvement is common in BD, but peripheral nerve involvement is uncommon. Objective: To determine peripheral nerve involvement and study its relation to disease duration and activity. Participants and methods In this case-control study, a total of 30 patients with clinically established BD according to International Criteria for Behçet's Disease and 30 healthy asymptomatic individuals matched for age and sex with the patient group were recruited. All patients in this study had been subjected to a full assessment of medical history, full medical examination, the BD current activity score form and the neuropathy symptom score, along with electrophysiological nerve conduction studies including sensory and motor nerve conduction assessments and laboratory investigations. Results: Based on the electrophysiological studies, 16 (53.3%) patients had evidence of peripheral neuropathy (PN). Of these, five (15.6%), six (20%), and six (20%) patients had median, ulnar, and tibial nerve affection, respectively. Consequently, nine (30%) patients had peroneal nerve affection and 14 (46.7%) patients had sural nerve affection. It is noteworthy that the most affected nerve in our study was the sural nerve, and approximately half of the included patients showed electrophysiological evidence of affection. We also found a correlation between incidences of peripheral neuropathy in patients with high BD current activity score form scores and a long duration of symptoms. We observed a significant increase in inflammatory markers (erythrocyte sedimentation rate and C-reactive protein) and liver enzymes (alanine aminotransferase and aspartate aminotransferase) in the BD group compared with the control group. Conclusion: The prevalence of peripheral nerve involvement in BD was 53.3%. Lower extremity sensory nerves were affected more prominently than upper and motor nerves. The longer the disease duration, the more the effects on the peripheral nerves. There is a positive correlation between aging or disease activity and the occurrence of peripheral neuropathy in BD. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of refractory ocular hypotony due to chronic Behcet's disease with good response to high-dose topical latanoprost. Case Report: We present a 26-year-old man with a known history of Behcet's disease who developed decreasing vision and severe ocular hypotony that was refractory to multiple treatment modalities including subtenon triamcinolone acetonide, ibopamine, pars plana vitrectomy, and silicone oil injection. We decided to try high-dose topical latanoprost for the management of ocular hypotony based on recent reports. After six months, intraocular pressure (IOP) increased by 5 mm Hg, became stable at 7 mm Hg, and remained unchanged at month 24. Conclusion: High-dose topical latanoprost could lead to significant increase in IOP in uveitis-induced refractory ocular hypotony.

We conducted a screening analysis to assess the presence of a characteristic extracellular circulating microRNAs (ci-miRNAs) profile in Behçet's syndrome (BS).Total RNA was extracted from platelets-free plasma (PFP) samples obtained from 16 BS patients and 18 healthy controls. Ci-miRNAs profiling was conducted by using dedicated Agilent microarray hybridization and data extraction technology. Statistical analysis of data extracted from microarray scanning revealed the deregulation of 36 ci-miRNAs, which turned out be differentially expressed between BS patients and healthy controls. Detailed experimental methods and data analysis were described here.The raw and normalized microarray data were deposited into Gene Expression Omnibus (GEO) under accession number GSE145191.

Behçet's Syndrome (BS) is a chronic vasculitis of unknown etiology. Arterial involvement occurring in the pulmonary artery is associated with poor prognosis. It may cause pulmonary thrombus (PTE) and aneurysm (PAA) which may also lead to a rare complication, intracardiac thrombus. PAA and PTE can be complications of BS and are associated with high morbidity and mortality. A 30-year-old male patient had a fever of 38.4°C, recurrent oral-genital ulcers, shortness of breath, cough, and sputum. In this case report, medical history, clinical and laboratory examinations, radiography, echocardiography, and computer tomography imaging examinations were performed. PAA, PTE, intracardiac and left popliteal vein thrombosis, and infective endocarditis were present. The patient was diagnosed with BS according to the International Study Group criteria. Surgery was performed for intracardiac thrombus. Vegetation within the thrombus was demonstrated histopathologically. The patient's clinical condition and laboratory tests improved with intervention and medical treatments. The patient with BS, PAA, PTE, intracardiac thrombus, and infective endocarditis was successfully treated with pulmonary embolization, antibiotics, and systemic immunosuppression, despite its rarity, poor prognosis, and high morbidity and mortality rates., Competing Interests: The authors declare no competing interests., (© Copyright 2024 by The Medical Bulletin of Sisli Etfal Hospital.)

Summary: Behçet's disease (BD) is an inflammatory disease mainly affecting men along the ancient Silk Route. In the present study we describe a Dutch family suffering from BD‐like disease with extreme pathergic responses, but without systemic inflammation. Genetic assessment revealed a combination of the human leukocyte antigen (HLA)‐B*51 risk‐allele together with a rare heterozygous variant in the CSF2 gene (c.130A>C, p.N44H) encoding for granulocyte–macrophage colony‐stimulating factor (GM‐CSF) found by whole exome sequencing. We utilized an over‐expression vector system in a human hepatocyte cell line to produce the aberrant variant of GM‐CSF. Biological activity of the protein was measured by signal transducer and activator of transcription 5 (STAT‐5) phosphorylation, a downstream molecule of the GM‐CSF receptor, in wild‐type peripheral mononuclear cells (PBMCs) using flow cytometry. Increased STAT‐5 phosphorylation was observed in response to mutated GM‐CSF when compared to the wild‐type or recombinant protein. CSF2 p.N44H results in disruption of one of the protein's two N‐glycosylation sites. Enzymatically deglycosylated wild‐type GM‐CSF also enhanced STAT‐5 phosphorylation. The patient responded well to anti‐tumor necrosis factor (TNF)‐α treatment, which may be linked to the capacity of TNF‐α to induce GM‐CSF in phorbol 12‐myristate 13‐acetate (PMA)‐treated PBMCs, while GM‐CSF itself only induced dose‐dependent interleukin (IL)‐1Ra production. The identified CSF2 pathway could provide novel insights into the pathergic response of BD‐like disease and offer new opportunities for personalized treatment. [ABSTRACT FROM AUTHOR]

ObjectiveMucocutaneous and joint disorders are the most common manifestations in Behçet’s syndrome (BS) and are frequently clustered in the so-called minor forms of BS. There remains a need for safe and effective treatment for joint lesions in BS. We report the long-term safety and effectiveness of apremilast in refractory joint and mucocutaneous manifestations of BS.MethodsFrench nationwide multicenter study including 50 BS patients with either active joint and/or mucocutaneous manifestations resistant to colchicine and/or DMARDs. Patients received apremilast 30 mg twice a day. Primary effectiveness endpoint was the proportion of patients with complete response (CR) of articular symptoms at month 6 (M6), defined as resolution of inflammatory arthralgia and arthritis, with joint count equal to zero.ResultsAt inclusion, the median tender and swollen joint count was of 4 [2-6] and 2 [1-2], respectively. The proportion of CR in joint disease at M6 was 65% (n = 15/23), and 17% (n = 4/23) were partial responders. CR of oral and genital ulcers, and pseudofolliculitis at M6 was 73% (n = 24/33), 94% (n = 16/17) and 71% (n = 10/14), respectively. The overall response at M6 was 74% for the entire cohort and 70% for the mucocutaneous-articular cluster (n = 27). The median Behçet’s syndrome activity score significantly decreased during study period [50 (40–60) vs. 20 (0–40); p

Objective: Mucocutaneous and joint disorders are the most common manifestations in Behçet's syndrome (BS) and are frequently clustered in the so-called minor forms of BS. There remains a need for safe and effective treatment for joint lesions in BS. We report the long-term safety and effectiveness of apremilast in refractory joint and mucocutaneous manifestations of BS. Methods: French nationwide multicenter study including 50 BS patients with either active joint and/or mucocutaneous manifestations resistant to colchicine and/or DMARDs. Patients received apremilast 30 mg twice a day. Primary effectiveness endpoint was the proportion of patients with complete response (CR) of articular symptoms at month 6 (M6), defined as resolution of inflammatory arthralgia and arthritis, with joint count equal to zero. Results: At inclusion, the median tender and swollen joint count was of 4 [2-6] and 2 [1-2], respectively. The proportion of CR in joint disease at M6 was 65% (n = 15/23), and 17% (n = 4/23) were partial responders. CR of oral and genital ulcers, and pseudofolliculitis at M6 was 73% (n = 24/33), 94% (n = 16/17) and 71% (n = 10/14), respectively. The overall response at M6 was 74% for the entire cohort and 70% for the mucocutaneous-articular cluster (n = 27). The median Behçet's syndrome activity score significantly decreased during study period [50 (40–60) vs. 20 (0–40); p < 0.0001]. After a median follow-up of 11 [6-13] months, 27 (54%) patients were still on apremilast. Reasons for apremilast withdrawal included adverse events (n = 15, 30%) and treatment failure (n = 8, 16%). Thirty-three (66%) patients experienced adverse events, mostly diarrhea (n = 19, 38%), nausea (n = 17, 34%) and headache (n = 16, 32%). Conclusion: Apremilast seems effective in BS-related articular disease refractory to colchicine and DMARDs. Discontinuation rates were significantly higher than that reported in clinical trials. [ABSTRACT FROM AUTHOR]

Purpose: We investigated whether antineutrophil cytoplasmic antibody (ANCA) positivity is associated with vascular manifestations at diagnosis of Behçet's disease (BD) and poor outcomes during follow-up. Materials and Methods: We retrospectively reviewed the medical records of 1060 patients with BD. Among them, 808 patients could be diagnosed with BD based on the revised version of the International Criteria for Behçet's Disease (ICBD) in 2014 (2014 ICBD criteria) and 588 patients could be diagnosed with BD based on the International Study Group (ISG) criteria proposed in 1990 (1990 ISG criteria). We examined the sites and patterns of vascular involvement in the BD patients at diagnosis and evaluated adverse outcomes during follow up, such as all-cause mortality, acute coronary syndrome, and deep vein thrombosis. Results: Among the 808 patients with BD based on the 2014 ICBD criteria, the rate of ANCA positivity at diagnosis was 2.2%. ANCA-positive BD patients exhibited a higher frequency of overall vascular manifestations (22.2% vs. 6.1%) and higher frequencies of vascular involvement in the upper extremities and visceral arteries than ANCA-negative BD patients (5.6% vs. 0.1% and 5.6% vs. 0.1%). Among the 588 BD patients based on the 1990 ISG criteria, similarly, ANCA-positive BD patients exhibited a higher frequency of vascular manifestations than ANCA-negative BD patients. ANCA positivity, however, did not seem to be associated with poor outcomes in BD patients during follow up. Conclusion: ANCA positivity in BD patients was found to be associated with cross-sectional vascular involvement in the upper extremities and visceral arteries at diagnosis but was not predictive of poor outcomes during follow-up. [ABSTRACT FROM AUTHOR]

Apremilast is an orally administered small molecule that specifically inhibits the phosphodiesterase‐4 enzyme and modulates the immune system by increasing the levels of intracellular cyclic adenosine monophosphate (cAMP) and inhibiting IL‐2 & 8, interferon‐γ and tumor necrosis factor (TNF) production. It is FDA approved for the treatment of psoriasis, psoriatic arthritis, and oral ulcers of Behcet's disease. More recently, apremilast has been used off‐label to treat varied dermatological diseases where systemic corticosteroids or immunosuppressive agents were not effective. We review the efficacy and safety of apremilast in the treatment of aphthous stomatitis, Behçet's disease, chronic actinic dermatitis, atopic dermatitis, cutaneous sarcoidosis, hidradenitis suppurativa, lichen planus, and discoid lupus erythematosus in cases where standard treatment has failed. [ABSTRACT FROM AUTHOR]

Abstract Background To describe optical coherence tomography angiography (OCT-A) findings in patients with retinal vasculitis and to compare them to current fluorescein angiography (FA) findings. Methods This was an observational case series. Nineteen eyes in 10 patients with retinal vasculitis of various etiologies were imaged with FA (TRC-50DX, Topcon) and OCT-A (SD-OCT, Optovue). The images were reviewed and analyzed. Results The mean age was 36 years (range 24–67 years); there were three males and seven females. The primary vessels involved were veins (89%). Fourteen eyes (74%) had active inflammatory disease during the study period, with signs of vascular sheathing and perivascular leakage on FA. Interestingly, in this group, OCT-A was not able to detect clear signs of active inflammation around the affected vessels. Nevertheless, OCT-A was able to detect secondary lesions in fourteen eyes (74%), including some findings not clearly shown on FA. Most of these were within the macular area. OCT-A was particularly effective in cases of capillary dropout, increased foveal avascular zone, telangiectasias, shunts, and areas of neovascularization. Conclusion FA remains an essential complementary exam for detection of retinal vasculitis. However, OCT-A extends FA findings and affords better assessment of secondary complications.

Background Insulin resistance is found in Behçet’s disease and associated with the development of metabolic syndrome. Our study explored whether amylin, which is involved in insulin resistance and development of metabolic syndrome, is observed in patients with Behçet’s disease. Aim Our aim was to assess serum levels of amylin in patients with Behçet’s disease and evaluate its relation to metabolic syndrome. Patients and methods Thirty Behçet’s disease patients and 30 controls matched by age, sex, and BMI were studied. The disease activity was assessed using the Behçet’s disease Current Activity Form score. Serum amylin level was studied using the enzyme-linked immunosorbent assay method. Results Our result showed that 11 (36.6%) patients under study were diagnosed with the metabolic syndrome, and there were significant differences between Behçet’s cases and control groups in cholesterol, triglyceride, and low-density lipoprotein levels (P

Purpose: To report a case of refractory ocular hypotony due to chronic Behcet's disease with good response to high-dose topical latanoprost. Case Report: We present a 26-year-old man with a known history of Behcet's disease who developed decreasing vision and severe ocular hypotony that was refractory to multiple treatment modalities including subtenon triamcinolone acetonide, ibopamine, pars plana vitrectomy, and silicone oil injection. We decided to try high-dose topical latanoprost for the management of ocular hypotony based on recent reports. After six months, intraocular pressure (IOP) increased by 5 mm Hg, became stable at 7 mm Hg, and remained unchanged at month 24. Conclusion: High-dose topical latanoprost could lead to significant increase in IOP in uveitis-induced refractory ocular hypotony. [ABSTRACT FROM AUTHOR]

Purpose of the Review: Rheumatic diseases usually have very diverse and complex pathophysiology resulting in different clinical phenotypes. Some certain phenotypes cluster together with a common presentation, course, and outcome. Our primary aim is to review the known disease clusters in certain rheumatological conditions. Recent Findings: Cluster analysis has been reported in several rheumatic diseases, Behcet disease being the most common. Five individual clusters together with some clinical associations have been reported in Behcet patients. Certain antibody-phenotype associations and damage clusters have been reported in systemic lupus erythematosus (SLE) patients as well. Although there is no proper cluster analysis, two distinct phenotypes are evident in deficiency of ADA2 (DADA2): those with a polyarteritis nodosa-like vasculopathy and hematological involvement with pure red cell aplasia or bone marrow failure. The variants are claimed to be different regions of this gene for these 2 phenotypes. Lastly, there is a recent paper grouping ANCA-associated vasculitis according to disease phenotype and antibody associations. Summary: There are distinct clusters in certain rheumatic diseases which might help us to predict comorbidities, disease course, and treatment response. [ABSTRACT FROM AUTHOR]

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Introduction: Behcet's disease is a multisystemic inflammatory condition, with unknown etiology. Most common clinical manifestations include painful oral mucosa ulcerations, painful genital mucosa ulcerations, cutaneous lesions and ocular lesions. Positive HLA-B51 antigen is a well-known risk factor. The etiopathogenesis of the disease includes bacterial, viral and environmental factors. Case report: Wie report the case of a 24-year-old female patient, from urban area, who presented to our clinic for painful polymorphic cutaneo-mucosal lesions. Skin assessment revealed multiple painful oral and genital mucosa ulcerations, as well as upper chest pustules and pretybial bilateral subcutaneous nodules. Ophtalmological examination identified conjunctival hyperemia, right palpebral edema and photophobia. Laboratory findings revealed leukocytosis with neutrophilia, elevated erythrocite sedimentation rate (ESR) and positive rheumatoid factor (PR). Bacteriological and micological tests performed from the lesions were negative. Serological tests were performed and IgM anti herpes simplex virus type 1 (Ig M anti HSV-1) and IgM anti herpes simplex virus type 2 (IgM anti HSV-2) were identified. The patient followed systemic treatment with nonsteroidal anti-inflammatory drugs (NSAIDs) and local treatment with a combination of steroidal and antibiotic cream. Clinical evolution was favorable, with complete resolution of lesions in approximatively 1 week. Conclusions: The possible viral etiology of Behcet's disease is a long investigated topic. Complete evaluation and multidisciplinary follow-up of these patients is vital in the approach of these cases. [ABSTRACT FROM AUTHOR]

Background and aims: Behçet disease (BD) is a chronic multisystem disease. It stands at the crossroads between the auto-immunity and auto-inflammatory disorders. Our study aims to evaluate corticosteroids therapy effects on serum immunoglobulin isotypes and anti-phospholipid auto-anti-body production in Algerian BD patients with different clinical manifestations. Methods: We evaluated serum immunoglobulin isotypes and anti-phospholipid (anti-cardiolipin, anti-β2glycoprotein I, anti-prothrombin) auto-anti-body production using Turbidimetric or Luminex platform assays. Our study was conducted in naïve active BD patients and in corticosteroid-treated patients with different clinical manifestations. Results and discussion: Our results indicate that IgM, IgG, and IgA levels were higher in naïve active patients. The increase in sera isotypes did not differ according to the clinical manifestation, except for IgA production, which was associated with an increased risk of mucocutaneous and ocular involvement. Interestingly, in corticosteroid-treated active patients, no difference was reported between each clinical subgroup. Furthermore,anti-cardiolipin, anti-β2glycoprotein I and anti-prothrombin auto-anti-body levels were elevated in naïve active patients. Contrary to anti-prothrombin, high anti-cardiolipin and anti-β2glycoprotein I, production differed according to the clinical manifestations and was associated with an increased risk of mucocutaneous and ocular involvement. Importantly, corticosteroid therapy significantly reduced these immune markers regardless of the clinical manifestations. Conclusion: Our results suggest that high IgA production could be a risk marker of uveitis in naïve active patients. Moreover, concomitant high anti-cardiolipin, anti-β2glycoprotein I and anti-prothrombin production is related to an increased risk of mucocutaneous lesions, ocular and vascular involvement. Collectively, our data indicate the importance of evaluating the corticosteroid effect on immune responses associated with BD to ensure an adequate investigation of each related clinical manifestation. [ABSTRACT FROM AUTHOR]

Behçet’sdisease (BD) is a chronic, multisystem vasculitis. It is categorized under variable vessel vasculitis in the new Chapel Hill nomenclature as it involves blood vessels of any type and size. It is characterized by relapsing aphthous ulcers commonly occurring in the oral mucosa and genitalia with ocular involvement. Other organ systems may be involved any time throughout the course of the disease. The exact cause is unknown. However, combination of genetic and environmental factors is likely to play a role. Cardiac involvement may occur in the form of intracardiac thrombus, endocarditis, myocarditis, pericarditis, endomyocardial fibrosis, coronary arteritis, myocardial infarction, and valvular disease. We present a case of Angio-Behçet in a 46-year-old African male with severe cardiovascular involvement including pulmonary artery hypertension (PAH), right ventricular failure and left ventricular diastolic dysfunction diagnosed after 2 episodes of symptomatic ischemic stroke resulting from complete occlusion of the right internal carotid artery (ICA) up to its intracranial portion. Immunosuppressive and anticoagulant therapies have induced improvement in cardiac manifestations. Nevertheless, prompt recognition of the primarily vascular manifestation of BD without mucocutaneous manifestations was responsible for considerable delay that did not afford surgical therapy for the carotid occlusion.