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.
- 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
conferenceObject 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.- Baked milk tolerant patient: Is there any special feature?(2017) BARBOSA, C. P. G.; CASTRO, A. P. M.; YONAMINE, G. H.; GUSHKEN, A. K. F.; BECK, C. M. L.; MACEDO, P. R. C.; DORNA, M. B.; SANTOS, C. J. N.; PASTORINO, A. C.; JACOB, C. M. A.Background: Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization. Objectives: The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution. Materials and methods: A cross-sectional study was conducted (January/13 to November/14) that included all the patients followed at a food allergy center who met the inclusion criteria. The patients underwent an oral food challenge (OFC) with a muffin (2.8 g of cow's milk protein). To exclude cow's milk (CM) tolerance, the patients were subsequently challenged with unheated CM. Results: Thirty patients met all the inclusion criteria. Fourteen patients (46.7%) were considered non-reactive to baked milk and reactive to unheated CM. When the groups that were reactive and non-reactive to baked milk were compared, no statistically significant differences in clinical features were found. The prick test for alpha-lactalbumin (p = 0.01) and casein (p = 0.004) and the serum specific IgE for casein (p = 0.05) presented statistical differences. After one year, none of the patients who were reactive to baked milk were ingesting CM, while 28% of the tolerant patients were consuming fresh CM (p= 0.037). Conclusions: Baked milk can be tolerated by patients with CMA, especially those with lower levels of casein and a-lactalbumin. This option can improve quality of life and accelerate tolerance.
bookPart Síndromes eosinofílicas e doenças granulomatosas pulmonares(2019) PASTORINO, Antonio Carlos; DORNA, Mayra de Barros- Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease in a Single Institution in Brazil. Reproducing Good Results with a Reduced Toxicity Regimen(2017) FERNANDES, Juliana Folloni; MANTOVANI, Luiz Fernando Alves Lima; VENANCIO, Angela Mandelli; DORNA, Mayra; PASTORINO, Antonio Carlos; VASCONCELOS, Dewton; NETO, Antonio Condino; MOURA, Ana Carla Augusto; COLLASSANTI, Maria Dulce; ZANICHELLI, Maria Aparecida; CARNEIRO-SAMPAIO, Magda; ROCHA, Vanderson G.; ODONE FILHO, Vicente
- Cow's milk allergy: Evaluating tolerance through skin-prick test(2016) NEVES, Flavia Valenca De Oliveira; BECK, Cleonir De Moraes Lui; GUSHKEN, Andrea Keiko Fujinami; YONAMINE, Glauce Hiromi; CASTRO, Ana Paula Beltran Moschione; DORNA, Mayra De Barros; SANTOS, Cristiane De Jesus Nunes Dos; PASTORINO, Antonio CarlosObjective: To evaluate the wheal diameter in allergy skin-prick tests (SPT) with cow's milk extract (CM) comparing tolerant and persistent patients. Method: A retrospective cohort study involving database analysis of children with diagnosis of cow's milk protein allergy (CMPA) mediated by immunoglobulin E in a specialized outpatient clinic that regularly performed SPT between January 2000 and July 2015. Patients were allocated into two groups: tolerant or persistent. Comparisons were made at diagnosis and over time between tolerant and persistent patients using Fisher's, Mann-Whitney or Wilcoxon tests and significance level at 5%. Results: After applying inclusion and exclusion criteria, the sample includes 44 patients (29 tolerant and 15 who persisted with CMPA). In the tolerant group, the medians of SPT were: 6 mm at diagnosis and 2 mm at the development of tolerance; a significant difference (p<0.0001) was found. In the persistent group, the median SPT at diagnosis was 7 mm, while in the last SPT it was 5 mm, with no statistical difference (p=0.173). The comparison of medians in the last SPT between groups was significant (p=0.001), with a reduction greater than 50% in SPT in the tolerant group. Conclusion: Serial SPTs were useful for diagnosis, and a decrease higher than 50% in diameter can indicate the moment to perform oral food challenge (OFC) tests, helping to detect tolerance in CMPA.
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.