ANTONIO CARLOS PASTORINO
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject Activated PI3K-Delta Syndrome (APDS): A Monogenic Cause of VEO-IBD That Impacts on Treatment(2019) LINDOSO, Livia; DEBONI, Mariana; DORNA, Mayra Barros; CASTRO, Ana Paula Moschione; PASTORINO, Antonio Carlos; TOMA, Ricardo- 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.
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center(2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, MagdaBackground: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
conferenceObject Evolution of milk-specific IgE antibody levels and its fractions during tolerance development in cow's milk allergic patients(2012) BECK, C.; CASTRO, A.; GUSHKEN, A.; WATANABE, L.; BRANDAO, A.; YONAMINE, G.; PASTORINO, A.; JACOB, C.Background: Food allergy affects about 6% of children and cow’s milk (CM) is the most important allergen. The majority of patients used to become tolerant during the first 3 years of life, but nowadays tolerance is being achieved later. Casein (C), alpha-lactalbumin (α) and beta-lactoglobulin (β) are considered as some of the major allergens. Until now, no study has evaluated the correlation among the whole cow’s milk (WCM) IgE antibody levels (IgE ab) and its fractions (C, α and β) during the tolerance development in CMA patients. Method: It was a retrospective study that included patients with previous diagnosis of CMA who developed tolerance during follow-up. It was included 31 IgE-mediated CMA patients (19 male: 12 female), median age of the first symptoms was 1 year. CMA was defined as a positive double blind placebo-controlled food challenge, open challenge or confirmed anaphylaxis plus cow’s milk-specific IgE positive (higher than 3.5 JU/l or positive skin prick test), and tolerance was defined as acceptance of cow milk without previous symptoms. Specific IgE analysis to WCM, α, β, and C were performed at three moments: initial (time 1), in the middle of the follow-up (time 2) and at the tolerance diagnosis (time 3). The chosen point during follow-up was that which corresponded to half of the period until tolerance was reached. The correlations among whole mil IgE ab and its fractions in those moments were evaluated with Spearman correlation test. Result: Ther values for whole cow’s milk IgE ab and each fraction according Spearman test are described in the following Table 1 Among all analysis, the correlation between whole cow’s milk and casein IgE ab and whole cow’s milk and alfalacto-albumin IgE ab showed adequater values at all moments of evaluations. Conclusion: These results can indicate that casein and alfalacto-albumin IgE ab showed similar behavior to WCM, and then the sequential evaluation through whole cow’s milk IgE ab levels may be enough for monitoring CMA patients until the tolerance development. Time Alpha-lactalbumin IgE ab Beta-lactoglobulin IgE ab Casein IgE ab 1 0.81 (0.63–0.90) 0.71 (0.46–0.85) 0.81 (0.64–0.91) 2 0.82 (0.65–0.91) 0.66 (0.39–0.82) 0.82 (0.65–0.91) 3 0.82 (0.64–0.91) 0.79 (0.60–0.90) 0.76 (0.54–0.90)- Common Variable Immunodeficiency Associated with Hepatosplenic T-Cell Lymphoma Mimicking Juvenile Systemic Lupus Erythematosus(2011) JESUS, A. A.; JACOB, C. M. A.; SILVA, C. A.; DORNA, M.; PASTORINO, A. C.; CARNEIRO-SAMPAIO, M.Common variable immunodeficiency (CVID) is a heterogeneous disorder with susceptibility to infections, autoimmune manifestations, and cancer. To our knowledge, CIVD with T-cell lymphoma mimicking juvenile systemic lupus erythematosus (JSLE) was not described in the literature, and one case was reported herein. An 8-year-old female was admitted in our Pediatric Immunology Unit with a clinical history of hypogammaglobulinemia, recurrent upper respiratory infections, and pneumonias. She had a marked decrease of three serum immunoglobulin isotypes, and the diagnosis of CVID was established. At the age of 17 years, she presented with oral ulceration, nonerosive arthritis, nephritis, serositis, cytopenia, positive antiphospholipid antibodies, and positive antinuclear antibody fulfilling the American College of Rheumatology (ACR) criteria for SLE. She was treated with intravenous methylprednisolone for three consecutive days, and intravenous immunoglobulin, and maintenance therapy of chloroquine, azathioprine and prednisone 40mg/day. Two months later, she died of septic shock secondary to acute pneumonia. The necropsy showed hepatosplenic T-cell lymphoma with diffuse involvement of bone marrow, spleen, liver, and lungs. The lymphoma cells were positive for CD3 immunostaining and negative for CD20 and lysozyme. In conclusion, the association of CVID and hepatosplenic T-cell lymphoma may simulate JSLE diagnosis.
- Inflammatory manifestations in children with chronic granulomatous disease(2021) TATEBE, Myris Satiko Shinzato; DORNA, Mayra de Barros; CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio Carlos
bookPart Doenças alérgicas(2023) CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio CarlosconferenceObject Activated Phosphoinositide 3-Kinase Syndrome (APDS): a Diagnosis to be Aware of(2017) BARP, M. F.; SILVA, P. A.; SILVA, P. F.; DORNA, M. B.; CASTRO, A. P. B. M.; SANTOS, C. J. N.; PASTORINO, A. C.- Laboratory screening test with inhalant and food allergens in atopic Brazilian children and adolescents: a performance(2021) REALI, Ana Carolina Rozalem; PIEROTTI, Felipe Faria; ARANDA, Carolina Sanchez; COCCO, Renata Rodrigues; SARINHO, Emanuel S. Cavalcanti; SANO, Flavio; PORTO NETO, Arnaldo; ROSARIO, Nelson A.; CHONG NETO, Herberto J.; GOUDOURIS, Ekaterini Simoes; MORAES, Lilian Sanches; WANDALSEN, Neusa Falbo; PASTORINO, Antonio Carlos; FRANCO, Jackeline Motta; CHAVARRIA, Maria Leticia; BORRES, Magnus P.; SOLE, DirceuThe Phadiatop Infant (R)) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children. Children as controls and patients (aged 6 months-18 years) were grouped according to their primary disease and age group. PhInf and specific serum IgE (sIgE) screening was performed for Dermatophagoides pteronyssinus (DP), cat and dog epithelia, a mix of grasses and pollens, eggs, cow's milk, peanuts, and shrimp. Values >= 0.35 kU (A)/L (or PAU/L) were considered positive. A total of 470 children and adolescents, which included 385 patients and 85 controls, participated in the study (47.7% boys, average age: 6.3 years). In all, 72.6% of the participants had positive PhInf test (n = 341), with a higher proportion of those having food allergy (92.6%), atopic dermatitis (91.9%), and those aged >13 years having allergy (95%). The PhInf and sIgE agreement between patients (Kappa = 0.94, P < 0.001) and controls (Kappa = 0.84, P < 0.001) was high. PhInf and DP agreement in patients aged >13 years was excellent (Kappa = 0.936, P < 0.001). Compared with sIgE dosage, PhInf had high sensitivity (97%) and specificity (93%). Positivity of PhInf test in this population was high and had an excellent correlation with the allergens comprising the panel. It is a useful method for screening children suspected of having allergic diseases in a non-European country. (C) 2021 Codon Publications.
- Establishing a cut-off for the serum levels of specific IgE to milk and its components for cow's milk allergy: Results from a specific population(2015) CASTRO, A. P.; PASTORINO, A. C.; GUSHKEN, A. K. F.; KOKRON, C. M.; FILHO, U. D.; JACOB, C. M. A.Background: Cow's milk allergy diagnosis many times requires double-blind placebo-controlled food challenge (DBPCFC), which presents high accuracy but involves risks, specifically in infants and anaphylactic patients. The identification of the cut-off values for specific IgE to milk or its components would contribute to cow's milk allergy (CMA) diagnosis. The aim of this study was to compare discriminating concentration of a cow's milk specific IgE and its fractions (alpha-lactoalbumin, beta-lactoglobulin, casein) in children for the CMA diagnosis. Methods: this study included 123 patients (M:F= 1.3:1) median age at diagnosis = 1.91 years, (3.5 m to 13.21 y) with CMA diagnosis via DBPCFC (n = 26), proven anaphylaxis due to cow's milk (n = 46) or a suggestive clinical history associated with a positive skin prick test (n = 51) and open oral food challenge. The control group included 61 patients (1 male: 1.1 female) ages ranging from 0.66 to 16.7 years (median = 6.83 years). Receiver operator characteristics (ROC) curves were constructed to determine the best cut-offs that guarantees high specificity (>95%) for cow's milk and its components. Results: considering 98% specificity, cut-off points were: 3.06 kU/L for cow's milk, 2.06 kU/L for a-lactalbumin, 1.85 kU/L for beta-lactoglobulin and 1.47 kU/L for casein. The best ROC curve (area under the curve = 0.929) was obtained evaluating cow's milk. Conclusion: this study showed that the cut-off point detected for whole cow's milk revealed a better discriminatory capacity for CMA diagnosis without the necessity of the milk components testing.