MAGDA MARIA SALES CARNEIRO SAMPAIO
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
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
19 resultados
Resultados de Busca
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conferenceObject Novel Mutations in MVK Associated with Hyperimmunoglobulinemia D with Periodic Fever Syndrome Phenotype(2014) VASCONCELOS, D. Moraes; FUJIHIRA, E.; OLIVEIRA, J. B.; JESUS, A. A.; SILVA, C.; CASTRO, A. P. M.; DORNA, M. B.; WATANABE, L.; PONTILLO, A.; CHUFFI-BARROS, N.; JACOB, C. M. A.; CARNEIRO-SAMPAIO, M. M. S.; DUARTE, A. J.- Microbiological profile in chronic granutomatous disease patients in a single Brazilian primary immunodeficiencies center(2021) OLIVEIRA, Aimee Filippini Bifulco; PASTORINO, Antonio Carlos; DORNA, Mayra de Barros; CASTRO, Ana Paula Beltran Moschione; PEGLER, Jose Roberto Mendes; MORGENSTERN, Beni; CARNEIRO-SAMPAIO, Magda Maria SalesBackground: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Infections of the lungs, skin, lymph nodes, and liver are the hallmark of CGD with frequent initial manifestations of the disease. The aim of the present study was to describe the sites of infections and their causative agents in 38 CGD pediatric patients. Methods: This was a retrospective single-center cohort study comprising CGD patients, and followed for over last 40 years at the Allergy and Immunology Unit of a tertiary hospital in Sao Paulo, Brazil. Sites of infections and their causative agents were described. Results: A total of 38 patients were included (36 males and 2 females). Median age at the onset of symptoms was 45 days (7 days-7 years) and that at the time of diagnosis was 23 months (1 month-12 years); 31.6% of the parents reported death of relatives during childhood and 21% (8 cases) had another mate family member with CDG. The most common infections were pneumonia (81.6%), skin infections (50.0%), adenitis (42.1%), and liver abscess (23.7%). In all, 188 cultures were positive (85.6% for bacteria and 14.4% for fungi). The most prevalent bacterial agents were Staphylococcus sp. (12.4%), Staphylococcus aureus (11.2%), and Klebsiella pneumoniae (9.3%). Aspergillus sp. and Candida sp. were 56% and 22.2% of the isolated fungi, respectively. Mycobacterium tuberculosis was isolated in 5.6% and Mycobacterium bovis in 0.9% (only in 1 patient) of cultures. Conclusion: Staphylococcus sp., Staphylococcus aureus, and Aspergillus sp. were the most frequent agents in this cohort. M. tuberculosis should be considered in endemic areas. Detection of infectious agents drives to find adequate treatment and benefits the evolution of patients with CGD. (C) 2021 Codon Publications.
conferenceObject Pulmonary Morphologic and Functional Abnormalities in Patients with Primary Hypogammaglobulinemia(2012) DORNA, Mayra de Barros; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, Magda M. Sales; JACOB, Cristina Miuki AbeRetrospective evaluation of 30 patients (21 M) aged 4.6–23.4 y (median 16.7 y) with predominantly humoral PID(9IDCV;14XLA;7HIGM).Mediantimeof follow-up9.2y(1.8–17.5). Median age of symptoms’ onset8mo(1–96 mo), age at diagnosis 5.8 y (7–175 mo) and diagnostic delay 4.7 y (0.2–13 y). Pneumonia was the main manifestation before diagnosis (24/30 patients) with frequency of 0.6/patient/year. After beginning IVIG, frequency of pneumonias decreased to 0.1 (p<0.001) and the frequency of sinusitis increased from0to0.55(p<0.001). Higher age at diagnosis and longer diagnostic delay were associated to bronchiectasis at diagnosis (p=0.016 and p<0.001). Seven patients developed bronchiectasis during follow-up. Spirometry (23/30 patients), 1–15 y after IVIG was abnormal in 13 (9 obstructive; 4 restrictive). Humoral PID often affects respiratory tract and IVIG reduces complications but pulmonary monitoring is essential to guarantee adequate therapeutic interventions.conferenceObject Hemophagocytic Syndrome Following Oral Rotavirus and Poliovirus Vaccination in Brazilian Perforin-deficient Twins(2013) JACOB, C. Miuki Abe; SANTOS, C. N.; PASTORINO, A. C.; DORNA, M. B.; FERNANDES, J. Fi; CASTRO, A. P. Bm; ROCHA, V.; HAMERCHLAK, N.; SAINT-BASILE, G. de; CARNEIRO-SAMPAIO, M.conferenceObject SERIOUS OPHTHALMOLOGIC COMPLICATIONS OF PRIMARY IMMUNODEFICIENCY PATIENTS(2012) ALVAREZ, H. T.; SUZUKI, A. C. F.; TAKIUTI, J. H.; FERRIANI, M. P.; DORNA, M.; SANTOS, C.; PASTORINO, A. C.; CASTRO, A. P. B.; CARNEIRO-SAMPAIO, M.; JACOB, C. M.Introduction: Primary immunodeficiencies (PID) are genetic diseases characterized by high susceptibility to infections. Although the manifestations affect all organs, there are few reports about ocular complications. Objective: To describe four patients with serious ophthalmologic complications in Brazilian patients followed at a reference center for PID. Methods: It was a retrospective study including patients with ocular serious complains. Medical records of 4 PID patients were evaluated for clinical data and the PID diagnosis was based on the PAGID/ ESID criteria. These patients underwent to ophthalmologic evaluation, including visual acuity, biomicroscopy and fundus examination. Ophthalmologic evaluation was done routinely only for AT and CHS diagnosis. Results: The PIDs patients included were: HLH, GCD, CMC and A-T. The HLH patient had a heterozygous mutation at the perforin gene (FHL type 2), CMC patient had a heterozygous mutation at STAT1. Ocular complains were: ocular pain, hyperemia, eyelids edema and strabismus and the characteristics of each patient were: - Female, 13y, CMC- conjunctivitis and eyelids edema with infraorbital infected papules. - Female, 6 mo, HLH- acute strabismus in consequence of neurological involvement by HLH. - Male, 15y, AT- herpes conjunctivitis and loss of vision in left eye. - Male, 9y CGD - Conjunctivitis in the left eye, progressing to edema and proptosis. The diagnosis was endophthalmitis granulomatous with loss of vision in left eye. Conclusion: Although not common in PID patients, the ocular complications may lead to loss of vision. The ophthalmologic evaluation would be routinely recommended for all PID patients to avoid important sequels.conferenceObject Familial Hemophagocytic Lymphohistiocytosis Caused by Perforin Deficiency in Brazilian Twins(2012) JACOB, Cristina Miuki Abe; SANTOS, Cristiane de Jesus Nunes dos; SAINT-BASILE, Genevieve de; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; FERNANDES, Juliana Folloni; ROCHA, Vanderson; CARNEIRO-SAMPAIO, Magda M. SalesTwo female monozygotic twins presented: Case1-at2mo presented fever and vomiting after vaccination with DTP, Haemophilus, Salk, Rotavirus. The initial evaluation showed: anemia, hepatosplenomegaly, pancytopenia, LDH=0760 U/L, ferritin=0622 ng/mL and triglycerides=0362 mg/dL. Hemophagocytosis was found in bone marrow. Case2: clinically asymptomatic, being detected anemia, LDH=0726 U/L, ferritin=0436 ng/mL, triglycerides=0166 mg/dL, without hemophagocytosis. Infections were excluded in both. Molecular testing identified two heterozygous mutations in the perforin gene, C46T leading to P16S and 50delT leading to L17 stop, making the diagnosis of FHL type 2. Both twins underwent to therapy based on HLH-2004 protocol followed by cord blood transplantation and after CMV infection with a good response to treatment. FHL should be suspected in all children with fever, visceromegaly and cytopenias for early treatment, including hematopoietic stem cell transplantation.conferenceObject Inflammatory Manifestations in Children with Chronic Granulomatous Disease(2020) TATEBE, Myris Satiko Shinzato; DORNA, Mayra De Barros; CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, MagdaconferenceObject Yellow Fever: Is It Possible to Vaccinate Patients with IgA Deficiency?(2019) CARNEIRO-SAMPAIO, Magda; CASTIGLIONI, Mariana; SOUZA, Nathalia; AQUILANTE, Bruna; DORNA, Mayra; CASTRO, Ana Paula; PASTORINO, Antonio CarlosconferenceObject Chediak-Higashi Syndrome: Experience from a Brazilian Reference Center For Primary Immunodeficiencies(2014) CUNHA, Patricia Salles; PINHO, Liliana; PASTORINO, Antonio Carlos; CASTRO, Ana Paula B. Moschione; DORNA, Mayra de Barros; CARNEIRO-SAMPAIO, Magda M. Sales; JACOB, Cristina Miuki AbeconferenceObject Safety Of Yellow Fever Vaccine And Other Live Attenuated Vaccines In Pediatric Patients With DiGeorge Syndrome(2020) SOUZA, Mayara Lorena de; DORNA, Mayra de Barros; HENRIQUES, Gabriela Araujo Toscano; VIEIRA, Pedro Henrique Meireles; GRASSI, Marcilia Sierro; CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, Magda