BackgroundDeficiency of adenosine deaminase 2 (DADA2) is a recently identified disease caused by mutations in the CECR1/ADA2 gene, encoding for adenosine deaminase 2 protein. Clinical presentation is variable and includes early-onset polyarteritis nodosa, hemorrhagic and ischemic strokes, hypogammaglobulinemia and cytopeniaObjectivesTo present the clinical cases of two Brazilian siblings with early stroke episodes carrying a homozygous CECR1/ADA2 mutation.MethodsChart review of clinical data, laboratory tests and mutation analysisResultsThe index case is a 7-year-old boy who presented to the emergency unit with right lower limb weakness, rhyme deviation and palpebral ptosis, associated with recurrent and intermittent fever, mood change and hypertension. The physical exam revealed drowsiness, lateral and vertical ocular paresis, diplopia, facial palsy, and bilateral ataxia. The brain MRI showed acute left mesencephalic small vessel lacunar stroke, previous right mesencephalic subacute stroke, and cerebellar cavity related with anterior cerebellar artery segmental narrowing. Laboratory tests revealed increased inflammatory markers and anemia. Autoantibodies and viral screening were negative. Renal ultrasound showed a pattern of low resistance in the intrarenal arteries bilaterally. At this time, he was diagnosed as polyarteritis nodosa (PAN). Despite of adequate treatment (cyclosphosphamide and corticosteroids), two new stroke episode occurred at left head of caudate and right thalamus. His brother, a 9-year-old healthy boy at that time, had a previous history of ischemic stroke when he was 4 years old, after receiving a vaccine, with complete recover. Considering this family history and the fact that parents are consanguineous, mutation analysis of CECR1/ADA2 gene was performed and showed homozygosity for the p.Y453C mutation in exon 9 in both siblings and heterozygosity for the same mutation in both parents. Although the eldest boy remained asymptomatic for 5 years without any specific treatment, shortly after the identification of the gene mutation, he presented recurrent fever episodes, myalgia, livedo reticularis and increased inflammatory markers. Anti-TNF treatment was initiated for both patients with good disease control.ConclusionDADA2 should be suspected in patients with PAN-like phenotype and history suggestive of an inherited disease (eg.: affected siblings and consanguineous parents) or resistance to conventional treatment.References[1] Fayand A, Sarraby G, Belot A, et al. Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature Rev. Med Interne 2018 39:297[2] Caorsi R, Penco F, Grossi, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis 2017; 76:Disclosure of InterestsNone declared
É expressivo o aumento da população feminina no sistema carcerário. O estudo objetivou descrever características sociodemográficas, história penal e assistência ao pré-natal e puerpério em mulheres detentas. Estudo transversal com aplicação questionário estruturado para 9 gestantes e 3 puérperas de um presídio feminino em Campo Grande. Nas puérperas, também se investigou a atenção à saúde no perinatal e puerpério. Os dados foram expressos como frequências absolutas e relativas. Constatou-se média de idade de 27,6 ± 5,9 anos; predominância da cor parda (8); não-utilização de côndom pela maioria (6); história prévia de DSTs e HIV em 3 participantes; acompanhamento pré-natal a partir do 1.º trimestre de gravidez em 5, a partir do 2.º trimestre em apenas uma e a partir do 3.º em 4; realização de colpocitologia oncótica em uma. No pós-parto, uma puérpera não foi consultada até o dia da entrevista; duas o foram. A assistência pré-natal e puerperal disponível no presídio revelou-se inadequada em relação aos critérios estabelecidos pelo Programa Nacional de Humanização do Pré-Natal e Nascimento.
BackgroundCentral nervous system (CNS) angiitis is a severe and rare inflammatory brain disease whose course varies from patient to patient. May be associated with infections, malignances, metabolic diseases or systemic collagen vascular disorders. It is classified as primary or idiopathic in the absence of associated systemic diseases. The exact incidence is still undetermined.ObjectivesTo describe the clinical and laboratory data, the response to therapy and outcome of patients with CNS angiitis seen at a Tertiary Pediatric Rheumatology Center.MethodsThis is a retrospective, single-center chart review study of pediatric patients with clinical diagnoses of CNS angiitis, followed up in a Tertiary Pediatric Rheumatology Center, from January 2009 to December 2018. Diagnosis was confirmed by magnetic resonance angiography (MRA) or after exhaustive exclusion of other causes.ResultsNine patients (4 girls) were enrolled in this study. Mean age at inclusion and at diagnosis was 11.5 years (7.8 to 19.9) and 8 years (3,5 to 12,5), respectively. Among the 9 patients, 4(44%) were diagnosed with primary CNS angiitis. Polyarteritis nodosa (n=4) and Behçet disease (n=1) were the aetiologies of secondary CNS angiitis. Main clinical features were sudden onset of seizures (67%) and headache (55%). Other important symptoms were: decreased level of consciousness, hemiparesis and neurocognitive dysfunction. In the cerebral spinal fluid, protein was elevated in 22% of patients. The pattern of lesions was bilateral in 67% and multifocal in 55%, being suggestive of ischemic lesions by CNS magnetic resonance in 78% of the cases. The MRA was conclusive in all cases of secondary and normal in only one case of primary CNS angiitis. Increased erythrocyte sedimentation rate, C-reactive protein and leukocyte count were more frequently observed in patients with secondary CNS angiitis as compared to patients with primary angiitis. In one case of primary CNS angiitis with negative vascular study, the Von Willebrand factor antigen was positive, being useful in the differential diagnosis. Steroids were administered in 100% of patients, associated with immunosuppressants in 7/9 cases. Induction therapy with intravenous cyclophosphamide was used in 78% of the cases and in the maintenance phase, azathioprine in 78% of them. No relapses occurred. The most commonly clinical sequel observed was residual epilepsy (55%).ConclusionIn this study, seizures were the most frequently symptom found. Steroids plus immunosuppressants were effective in the disease control. MRA was positive in all cases of secondary CNS angiitis, being effective in the diagnosis of this condition. Recognition of findings and adequate diagnosis guides the treatment, which should be specific to the underlying cause, aiming to provide a good neurologic outcome.References[1] TWILT M, BENSELER S. Central Nervous System vasculitis in adults and children. Handbook of Clinical Neurology, 2016;133: 283-300.[2] DEMIR S, SAG E, DEDEOGLU F, et al. Vasculitis in Systemic Autoinflammatory Diseases...
BackgroundUveitis is an ocular inflammatory disease that may lead to irreversible blindness if not treated early and properly. May be induced by infectious and non-infectious diseases (autoimmune diseases, especially juvenile idiopathic arthritis), or “masquerade” causes. Some uveitis are termed “idiopathic” although autoinflammatory evidence. Treatment effectiveness depends on the accuracy of the ophthalmologic evaluation and the appropriate management, especially when immunosuppressive medications are necessary. (1, 2) ObjectivesTo describe the first year experience of the Integrated Ophthalmology and Pediatric Rheumatology Outpatient Clinic in the management of pediatric patients with autoimmune uveitis.MethodsRetrospective chart review study of twenty-four patients followed up from June 2017 to October 2018. The patients clinical evolution at 0, 3, 6, 9 and 12 months was analyzed.ResultsIn this group, 62% were female, and mean age at first appointment and at symptoms onset were 11.7 (2.9 to 17. 5) and 7.3 (1.1 to 12.6) years, respectively. Anterior uveitis was present in 70.8% of the cases, and in 65.6% it was bilateral; cataract or glaucoma was observed in 20.5%. The identified diagnosis during follow-up were: idiopathic autoimmune uveitis in 45.8%, juvenile idiopathic arthritis in 41.6% (20.8% oligoarticular, 16.6% polyarticular, 4.1% associated with enthesitis) and juvenile systemic lupus erythematosus, Kawasaki Disease and Vogt-Koyanagi-Harada syndrome one case of each. Antinuclear antibodies were present in 41% and inflammatory markers in 28.7% patients. At first appointment, 20.5% presented ocular inflammatory activity and 53.3% had sequelae when examined in slit lamp or indirect ophthalmoscopy. Medications used were: topical corticosteroids (61.6%), topical mydriatic (49.2%), oral corticosteroid (41%), methotrexate (41%), etanercept (12.3%), adalimumab (28.7%) and periocular injections of triamcinolone, cyclosporin, tocilizumab, azathioprine (4.1% each). The comparison of the data at inclusion and during follow-up is reported in Table:Table –Uveitis activity and medication use at the beginning and during follow-upAt inclusion3 months6 months9 months12 monthsOcular inflammation(%)20.524.612.312.312.3Topical Corticosteroid(%)61.632.816.48.220.5Topical Mydriatic (%)4124.628.720.520.5Oral Corticosteroid (%)73.820.512.312.320.5Metotrexate (%)12.353.349.236.928.7Etanercept (%)12.34.14.14.14.1Adalimumab (%)20.520.516.416.416,4Others (%)12.34.14.14.14,1No medication (%)4.18.28.28.24,1At the end of 12 months, only 12.3% of the patients still had active uveitis. We have also observed a reducing in 66.6% of topical corticosteroids and 72.2% of oral corticosteroids use during the treatment of uveitis over 12 monthsConclusionConsidering that before the inclusion, patients were followed independently in each clinic, there was optimization of the treatment and reduction in number of medical appointments after the creation of the integrated outpatient clinic. The interprofessional management teams should be the standar...
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