MAGDA MARIA SALES CARNEIRO SAMPAIO

(Fonte: Lattes)
Índice h a partir de 2011
23
Lattes
ORCID
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder

Filtros

Limpar filtros

Configurações

Autor: SILVA, Clovis A. ×

Resultados de Busca

Agora exibindo 1 - 10 de 21
  • article 94 Citação(ões) na Scopus
    A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil
    (2011) JESUS, Adriana A.; OSMAN, Mazen; SILVA, Clovis A.; KIM, Peter W.; Tuyet-Hang Pham; GADINA, Massimo; YANG, Barbara; BERTOLA, Debora R.; CARNEIRO-SAMPAIO, Magda; FERGUSON, Polly J.; RENSHAW, Blair R.; SCHOOLEY, Ken; BROWN, Michael; AL-DOSARI, Asma; AL-ALAMI, Jamil; SIMS, John E.; GOLDBACH-MANSKY, Raphaela; EL-SHANTI, Hatem
    Objective Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem inflammatory disease, Majeed syndrome, and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. This study was undertaken to present the characteristics of the DIRA syndrome in 2 cases from Brazil, and describe a novel mutation in IL1RN. Methods. Two unrelated Brazilian patients were evaluated for the clinical signs and symptoms of these 3 disorders, and peripheral blood samples were assessed for mutations in NLRP3, LPIN2, and IL1RN by DNA resequencing analysis. A mutation in IL1RN that encodes a mutant protein was identified, and the expression and function of this mutant protein were compared to those of the wild-type protein. Results. Both patients presented with pustular dermatitis resembling generalized pustular psoriasis, recurrent multifocal aseptic osteomyelitis, and elevation in the levels of acute-phase reactants, all of which are features most consistent with the DIRA syndrome. Chronic lung disease was observed in 1 of the patients, and jugular venous thrombosis was observed in the other patient. Both patients showed a partial response to corticosteroid therapy, and 1 patient experienced an initial improvement of dermatitis with the use of acitretin. Both patients were homozygous for a novel 15-bp (in-frame) deletion on the IL1RN gene. The mutated protein expressed in vitro had no affinity with the IL-1 receptor, and stimulation of the patients' cells with recombinant human IL-1 alpha or IL-1 alpha led to oversecretion of proinflammatory cytokines, similar to the findings obtained in previously reported patients. Conclusion. The presence of the same homozygous novel mutation in IL1RN in 2 unrelated Brazilian patients suggests that this genetic variant may be a founder mutation that has been introduced in the Brazilian population.
  • article 30 Citação(ões) na Scopus
    Hereditary Autoinflammatory Syndromes: A Brazilian Multicenter Study
    (2012) JESUS, Adriana A.; FUJIHIRA, Erika; WATASE, Mariana; TERRERI, Maria T.; HILARIO, Maria O.; CARNEIRO-SAMPAIO, Magda; LEN, Claudio A.; OLIVEIRA, Sheila K.; RODRIGUES, Marta C.; PEREIRA, Rosa M.; BICA, Blanca; SILVA, Nilzio A.; CAVALCANTI, Andre; MARINI, Roberto; SZTAJNBOK, Flavio; QUINTERO, Maria V.; FERRIANI, Virginia P.; MORAES-VASCONCELOS, Dewton; SILVA, Clovis A.; OLIVEIRA, Joao B.
    To evaluate the prevalence of genetic defects in clinically suspected autoinflammatory syndromes (AIS) in a Brazilian multicenter study. The study included 102 patients with a clinical diagnosis of Cryopyrin Associated Periodic Syndromes (CAPS), TNF Receptor Associated Periodic Syndrome (TRAPS), Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD) and Pediatric Granulomatous Arthritis (PGA). One of the five AIS-related genes (NLRP3, TNFRSF1A, MEFV, MVK and NOD2) was evaluated in each patient by direct DNA sequencing, based on the most probable clinical suspect. Clinical diagnoses of the 102 patients were: CAPS (n = 28), TRAPS (n = 31), FMF (n = 17), MKD (n = 17) and PGA (n = 9). Of them, 27/102 (26 %) had a confirmed genetic diagnosis: 6/28 (21 %) CAPS patients, 7/31 (23 %) TRAPS, 3/17 (18 %) FMF, 3/17 (18 %) MKD and 8/9 (89 %) PGA. We have found that approximately one third of the Brazilian patients with a clinical suspicion of AIS have a confirmed genetic diagnosis.
  • article 31 Citação(ões) na Scopus
    Inflammasome polymorphisms in juvenile systemic lupus erythematosus
    (2015) PONTILLO, Alessandra; REIS, Edione C.; LIPHAUS, Bernadete L.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, Magda
    Inflammasome is the cytoplasmic complex responsible for pro-IL1 cleavage and secretion of IL-1. Recently our group reported the first association between polymorphisms in the inflammasome receptor NLRP1 and adult-onset systemic lupus erythematosus (SLE) di per se and especially in SLE-associated renal disease, suggesting the involvement of NLRP1-inflammasome in the immune dysregulation characteristic of SLE patients. Considering that juvenile-onset SLE (JSLE) is more severe than adult SLE, and that the genetic background plays a major role in the early development of autoimmune diseases, we analysed selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, IL1B, TNFAIP3) of children and adolescents with JSLE (n=90) and in healthy controls (n=144). A single polymorphism in IL1B, and not NLRP1, gene resulted in association with JSLE, suggesting that IL-1 is involved in the pathogenesis of SLE, but different genes could play specific role in adult- or early-onset disease.
  • article 9 Citação(ões) na Scopus
    Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus
    (2015) LIPHAUS, Bernadete L.; UMETSU, Natalia; JESUS, Adriana A.; BANDO, Silvia Y.; SILVA, Clovis A.; CARNEIRO-SAMPAIO, Magda
    OBJECTIVE: To perform a molecular characterization of the C1q, C2 and C4 genes in patients with juvenile systemic lupus erythematosus. METHODS: Patient 1 (P1) had undetectable C1q, patient 2 (P2) and patient 3 (P3) had decreased C2 and patient 4 (P4) had decreased C4 levels. All exons and non-coding regions of the C1q and C2 genes were sequenced. Mononuclear cells were cultured and stimulated with interferon gamma to evaluate C1q, C2 and C4 mRNA expression by quantitative real-time polymerase chain reaction. RESULTS: C1q sequencing revealed heterozygous silent mutations in the A (c.276 A>G Gly) and C (c.126 C>T Pro) chains, as well as a homozygous single-base change in the 39 non-coding region of the B chain (c*78 A>G). C1qA mRNA expression without interferon was decreased compared with that of healthy controls (p<0.05) and was decreased after stimulation compared with that of non-treated cells. C1qB mRNA expression was decreased compared with that of controls and did not change with stimulation. C1qC mRNA expression was increased compared with that of controls and was even higher after stimulation. P2 and P3 had Type I C2 deficiency (heterozygous 28 bp deletion at exon 6). The C2 mRNA expression in P3 was 23 times lower compared with that of controls and did not change after stimulation. The C4B mRNA expression of P4 was decreased compared with that of controls and increased after stimulation. CONCLUSIONS: Silent mutations and single-base changes in the 3' non-coding regions may modify mRNA transcription and C1q production. Type I C2 deficiency should be evaluated in JSLE patients with decreased C2 serum levels. Further studies are needed to clarify the role of decreased C4B mRNA expression in JSLE pathogenesis.
  • article 52 Citação(ões) na Scopus
    Features of 847 Childhood-Onset Systemic Lupus Erythematosus Patients in Three Age Groups at Diagnosis: A Brazilian Multicenter Study
    (2016) GOMES, Roberta C.; SILVA, Marco F.; KOZU, Katia; BONFA, Eloisa; PEREIRA, Rosa M.; TERRERI, Maria T.; MAGALHAES, Claudia S.; SACCHETTI, Silvana B.; MARINI, Roberto; FRAGA, Melissa; CARVALHO, Luciana M.; BARBOSA, Cassia M.; CARNEIRO-SAMPAIO, Magda; SILVA, Clovis A.
    ObjectiveTo evaluate demographic data and clinical and laboratory features at disease diagnosis in 3 different age groups of childhood-onset systemic lupus erythematosus (SLE): group A, early-onset (<6 years); group B, school age (6 to <12 years); and group C, adolescent (12 to <18 years). MethodsThis was a Brazilian multicenter cohort retrospective study in 10 pediatric rheumatology centers, including 847 childhood-onset SLE patients. ResultsPatients were divided into 3 groups: group A with 39 patients (4%), group B with 395 patients (47%), and group C with 413 patients (49%). Of 39 childhood-onset SLE patients in group A, 3 (8%) were ages <2 years, 4 (10%) were 2 to <3 years, and 32 (82%) were 3 and <6 years. A total of 74 childhood-onset SLE patients were analyzed for C1q levels, and complete C1q deficiency was observed in 3 of 74 patients (4%), all in group A. Groups were similar regarding high frequencies of female sex, nephritis, neuropsychiatric involvement, Systemic Lupus Erythematosus Disease Activity Index 2000 score 8, autoantibody profile, elevated acute phase proteins, and low complement levels (P>0.05). However, the frequency of fever (78% versus 61% versus 47%; P<0.0001), hepatomegaly (42% versus 29% versus 14%; P<0.0001), splenomegaly (28% versus 12% versus 4%; P<0.0001), and discoid lupus (13% versus 4% versus 4%; P=0.020) was significantly higher in group A compared to groups B and C. The frequency of weight loss >2 kg (19% versus 28% versus 36%; P=0.017), photosensitivity (34% versus 41% versus 51%; P=0.006), leukopenia <4,000/mm(3) (14% versus 25% versus 30%; P=0.048), and lymphopenia <1,500/mm(3) (22% versus 41% versus 47%; P=0.011) was significantly lower in group A. ConclusionOur large multicenter study identified the finding that the initial appearance of childhood-onset SLE is characterized by comparable high frequency of internal organ involvement and some distinct clinical and laboratory features in early-onset and adolescent groups.
  • article 18 Citação(ões) na Scopus
    Differences among Severe Cases of Sars-CoV-2, Influenza, and Other Respiratory Viral Infections in Pediatric Patients: Symptoms, Outcomes and Preexisting Comorbidities
    (2020) SOUSA, Braian L. A.; SAMPAIO-CARNEIRO, Magda; CARVALHO, Werther B. de; SILVA, Clovis A.; FERRARO, Alexandre A.
    OBJECTIVES: Previous studies focusing on pediatric patients hospitalized with severe coronavirus disease 2019 (COVID-19) have been limited to small case series. We aimed to evaluate the characteristics of a large population of pediatric patients with severe COVID-19 and compare them with patients with severe cases of influenza and other respiratory viruses (ORV). METHODS: We performed a cross-sectional study of Brazilian data from the National Epidemiological Surveillance Information System, gathered from January 1st to July 14th, 2020. The sample included 4,784 patients (2,570 with confirmed COVID-19, 659 with influenza, 1,555 with ORV). Outcome measures included clinical features, preexisting comorbidities, pediatric intensive care unit admissions, need for ventilatory support, and death. RESULTS: Compared with the influenza and ORV groups, the COVID-19 group had a higher proportion of newborns and adolescents, as well as lower frequencies of fever, cough, dyspnea, respiratory distress, and desaturation. Although use of invasive ventilatory support was similar among groups, death rate was highest for COVID-19 (15.2% vs. 4.5% vs. 3.2%, p <0.001), with death risk more than three times the other groups (adjusted OR=3.7 [95% CI 2.5-5.6]). The presence of two or more comorbidities further increased this risk (OR=4.8 [95% CI 3.5-6.6]). Preexisting comorbidities were reported in 986 patients with severe COVID-19 (38%). Mortality rate among COVID-19 patients was significantly higher for almost all comorbidities reported. CONCLUSION: Severe COVID-19 had a higher mortality rate than other viral respiratory illnesses, despite the lower frequency of fever, cough, dyspnea, respiratory distress, and desaturation. Death risk was strongly associated with preexisting comorbidities.
  • article 0 Citação(ões) na Scopus
    Health-related quality of life and functionality in primary caregiver of surviving pediatric COVID-19
    (2023) MARTINS, Fernanda; GONCALVES, Fernanda T.; IMAMURA, Marta; BARBOZA, Daniela S.; MATHEUS, Denise; PEREIRA, Maria Fernanda B.; MARQUES, Heloisa H. S.; CORREA-SILVA, Simone; MONTENEGRO, Marilia M.; FINK, Thais T.; LINDOSO, Livia; BAIN, Vera; FERREIRA, Juliana C. O. A.; ASTLEY, Camilla; MATSUO, Olivia M.; SUGUITA, Priscila; TRINDADE, Vitor; PAULA, Camila S. Y.; LITVINOV, Nadia; PALMEIRA, Patricia; GUALANO, Bruno; DELGADO, Artur F.; CARNEIRO-SAMPAIO, Magda; FORSAIT, Silvana; ODONE-FILHO, Vicente; ANTONANGELO, Leila; BATTISTELLA, Linamara R.; SILVA, Clovis A.
    ObjectivesTo prospectively assess health-related quality of life (HRQoL), global functionality, and disability in primary caregivers of surviving children and adolescents after COVID-19. MethodsA longitudinal observational study was carried out on primary caregivers of surviving pediatric post-COVID-19 patients (n = 51) and subjects without COVID-19 (n = 60). EuroQol five-dimension five-level questionnaire (EQ-5D-5L) and 12-question WHO Disability Assessment Schedule 2.0 (WHODAS 2.0) were answered for both groups. The univariate regression analysis was carried out using SPSS (v 20) and significance was established at 5%. ResultsThe median duration between COVID-19 diagnosis in children and adolescents and longitudinal follow-up visits was 4.4 months (0.8-10.7). The median age of children and adolescents caregivers with laboratory-confirmed COVID-19 was similar to primary caregivers of subjects without laboratory-confirmed COVID-19 [43.2 (31.6-60.9) vs. 41.5 (21.6-54.8) years, p = 0.08], as well as similar female sex (p = 1.00), level of schooling (p = 0.11), social assistance program (p = 0.28), family income/month U$ (p = 0.25) and the number of household's members in the residence (p = 0.68). The frequency of slight to extreme problems (level & GE; 2) of the pain/discomfort domain according to EQ-5D-5L score was significantly higher in the former group [74% vs. 52.5%, p = 0.03, OR = 2.57 (1.14-5.96)]. The frequency of disability according to WHODAS 2.0 total score was similar to those without disability and unknown (p = 0.79); however, with a very high disability in both groups (72.5% and 78.3%). Further analysis of primary caregivers of children and adolescents with post-COVID-19 condition (PCC) [n = 12/51 (23%)] compared to those without PCC [n = 39/51(77%)] revealed no differences between demographic data, EQ-5D-5L and WHODAS 2.0 scores in both groups (p > 0.05). ConclusionWe longitudinally demonstrated that pain/discomfort were predominantly reported in approximately 75% of primary caregiver of COVID-19 patients, with high disability in approximately three-quarters of both caregiver groups. These data emphasized the prospective and systematic caregiver burden evaluation relevance of pediatric COVID-19.
  • article 1 Citação(ões) na Scopus
    Increased Soluble Cytoplasmic Bcl-2 Protein Serum Levels and Expression and Decreased Fas Expression in Lymphocytes and Monocytes in Juvenile Dermatomyositis
    (2018) LIPHAUS, Bernadete L.; SALLUM, Adriana E. M.; AIKAWA, Nadia E.; KISS, Maria Helena B.; CARRASCO, Solange; PALMEIRA, Patricia; LIMA, Laila; SILVA, Clovis A.; GOLDENSTEIN-SCHAINBERG, Claudia; CARNEIRO-SAMPAIO, Magda
    Objective. To evaluate soluble Fas antigen (sFas), sFas ligand (sFasL), soluble tumor necrosis factor-related apoptosis-inducing ligand, and soluble cytoplasmic Bcl-2 protein (sBcl-2) serum levels, Fas and Bcl-2 expressions in T and B lymphocytes and monocytes and relations with erythrocyte sedimentation rate, C-reactive protein (CRP), Childhood Myositis Assessment Scale, and manual muscle testing in juvenile dermatomyositis (JDM). Methods. Serum levels were determined by ELISA and peripheral cell expressions by flow cytometry for patients with JDM or juvenile idiopathic arthritis (JIA), and healthy controls. Results. Patients with JDM had increased sBcl-2, which correlated with CRP. Expression of Bcl-2 was increased and expression of Fas was decreased in CD3+, CD4+, and CD8+ T lymphocytes compared with JIA and/or healthy controls. Conclusion. Patients with JDM presented a unique apoptosis-related proteins profile, which may contribute to disease development.
  • article 12 Citação(ões) na Scopus
    The new 2019-EULAR/ACR classification criteria specific domains at diagnosis can predict damage accrual in 670 childhood-onset systemic lupus erythematosus patients
    (2021) PITTA, Ana C.; SILVA, Clovis A.; INSFRAN, Carlos E.; PASOTO, Sandra G.; TRINDADE, Vitor C.; V, Glaucia Novak; SAKAMOTO, Ana P.; TERRERI, Maria T.; PEREIRA, Rosa M. R.; MAGALHAES, Claudia S.; FONSECA, Adriana R.; ISLABAO, Aline G.; ASSAD, Ana P. L.; BUSCATTI, Izabel M.; ELIAS, Adriana M.; PIOTTO, Daniela P.; FERRIANI, Virginia P.; CARVALHO, Luciana M.; RABELO JUNIOR, Carlos N.; MARINI, Roberto; SZTAJNBOK, Flavio R.; SACCHETTI, Silvana B.; BICA, Blanca E.; MORAES, Ana J.; ROBAZZI, Teresa C.; LOTUFO, Simone; CAVALCANTI, Andre S.; NAKA, Erica N.; CARNEIRO-SAMPAIO, Magda; BONFA, Eloisa; AIKAWA, Nadia E.
    Objective To evaluate if the 2019-European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) criteria at diagnosis of childhood-onset systemic lupus erythematosus (cSLE) are associated with higher rates of early damage scored by Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index (SDI). Methods This retrospective multicenter study included 670 cSLE patients with <= 5 years of disease duration. All patients fulfilled both 2019-EULAR/ACR and 1997-ACR classification criteria. Total score of 2019-EULAR/ACR criteria and each of its specific domains were assessed at diagnosis as predictors of damage accrual at the last visit, according to the presence of any organ damage (defined by SDI >= 1). Results Median disease duration was 2.8 (IQR 1.8-3.8) years and 200 (29.9%) patients had at least one organ damage (SDI >= 1). The most frequent domains were neuropsychiatric (12%), renal (7%), and musculoskeletal (6%). There was a higher frequency of renal (58% vs 43%, p = 0.0004) and neuropsychiatric domain (21% vs 7%, p < 0.0001) of 2019-EULAR/ACR criteria in patients with damage (SDI >= 1) compared to those without damage (SDI = 0). Patients scoring renal or neuropsychiatric domains of the 2019-EULAR/ACR criteria at diagnosis were associated with renal damage (odds ratio 9.701, 95% confidence interval 3.773-24.941, p < 0.001) or neuropsychiatric damage (OR 9.480, 95% CI 5.481-16.399, p<0.0001) at latest visit, respectively. cSLE patients with positive anti-dsDNA at diagnosis were also associated with renal damage by the latest visit (OR 2.438, 95% CI 1.114-5.3381, p = 0.021). Constitutional, hematologic, mucocutaneous, serosal, and musculoskeletal domains and specific criteria as well as other immunologic criteria were not associated with damage accrual. Median of SLEDAI-2K was significantly higher in patients with global damage (19.5 (2-51) vs 14 (0-51), p<0.001). 2019-EULAR/ACR score >25 was associated with more overall (SDI >= 1) (38% vs 25%, p = 0.0002) and renal damage (11% vs 5%, p = 0.023). Conclusions The 2019-EULAR/ACR criteria at diagnosis were associated with a higher rate of early damage in cSLE patients, especially for renal and neuropsychiatric damage. Of note, damage was particularly associated with high disease activity at diagnosis and 2019-EULAR/ACR score >25.
  • article 11 Citação(ões) na Scopus
    LRBA deficiency: a new genetic cause of monogenic lupus
    (2020) LIPHAUS, Bernadete L.; CARAMALHO, Iris; RANGEL-SANTOS, Andreia; SILVA, Clovis A.; DEMENGEOT, Jocelyne; CARNEIRO-SAMPAIO, Magda Maria Salles