Medical awareness concerning primary immunodeficiency diseases in the city of São Paulo, Brazil

OBJETIVO: Avaliar o conhecimento médico sobre as imunodeficiências primárias na cidade de São Paulo (SP). MÉTODOS: Um questionário de 14 questões sobre as imunodeficiências primárias foi aplicado a médicos que trabalhavam em hospitais gerais. Uma das questões apresentava 25 situações clínicas que poderiam ou não estar associadas às imunodeficiências primárias, e a porcentagem de respostas apropriadas gerou um indicador de conhecimento. RESULTADOS: Participaram do estudo 746 médicos, dentre os quais 215 pediatras (28,8%), 244 cirurgiões (32,7%) e 287 clínicos (38,5%). Cerca de 70% dos médicos responderam ter aprendido sobre as imunodeficiências primárias na graduação ou na residência médica. O atendimento a pacientes que usam antibióticos com frequência foi relatado por 75% dos médicos, mas apenas 34,1% já haviam investigado algum paciente e 77,8% não conheciam os dez sinais de alerta para as imunodeficiências primárias. O indicador de conhecimento obtido apresentou uma média de 45,72% (±17,87). Apenas 26,6% dos pediatras e 6,6% tanto dos clínicos quanto dos cirurgiões apresentaram indicador de conhecimento de pelo menos 67% (equivalente à resposta apropriada em dois terços das situações clínicas). CONCLUSÃO: Há uma deficiência no conhecimento médico das imunodeficiências primárias na cidade de São Paulo, mesmo entre os pediatras, a despeito do maior contato com o tema nos últimos anos. A melhora da informação sobre as imunodeficiências primárias entre a comunidade médica é um importante passo para o diagnóstico e o tratamento precoces dessas doenças.OBJECTIVE: To evaluate medical knowledge of primary immunodeficiency in the city of São Paulo (SP). METHODS: A 14-item questionnaire about primary immunodeficiency was applied to physicians who worked at general hospitals. One of the questions presented 25 clinical situations that could be associated or not with primary immunodeficiency, and the percentage of appropriate answers generated a knowledge indicator. RESULTS: Seven hundred and forty-six participated in the study, among them 215 pediatricians (28.8%), 244 surgeons (32.7%), and 287 clinicians (38.5%). About 70% of the physicians responded that they had learned about primary immunodeficiency in graduate school or in residency training. Treatment of patients that use antibiotics frequently was reported by 75% dos physicians, but only 34.1% had already investigated a patient and 77.8% said they did not know the ten warning signs for primary immunodeficiency. The knowledge indicator obtained showed a mean of 45.72% (±17.87). Only 26.6% if the pediatricians and 6.6% of clinicians and surgeons showed a knowledge indicator of at least 67% (equivalent to an appropriate answer in two thirds of the clinical situations). CONCLUSION: There is a deficit in medical knowledge of primary immunodeficiency in the city of São Paulo, even among pediatricians, despite having greater contact with the theme over the last few years. The improvement of information on primary immunodeficiency in the medical community is an important step towards the diagnosis and treatment process of these diseases

Ataxia-telangiectasia : epidemiological survey in latin america

Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. We aimed to evaluate the multisystem involvement in AT by describing clinical features and outcomes of Latin American (LA) patients. cross-sectional and multicenter study. Referral centers from all over LA filled in a questionnaire with clinical and laboratory data based on patients’ records. 228 patients from 10 LA countries were evaluated. Mean ages at the time of symptom onset and diagnosis were 1.63±1.09 and 5.66±3.48 years, respectively. The most common immunodeficiency was IgA deficiency (60.8%), followed by IgG deficiency (28.6%). IgA and IgM showed a tendency to decrease as the patient grew older (p=0.001 and 0.048). IgA deficiency was associated with recurrent airway infections (p=0.038). 120 (79,5%) patients presented with low CD3+CD4+ count and 115 (92%) with low CD19+ count. Regarding nutritional status, as patients grow older there is an increase in severe thinness (p=0.016). Median survival was 23 years and Kaplan-Meier 20-year-survival rate was 52,6%. IgG deficiency and female gender were associated with a decrease in estimated survival function (p=0.02 and 0.049). There is a high prevalence of laboratory immunologic abnormalities and recurrent infections in AT patients. Knowledge of specific regional characteristics and variables which can be related with survival allows for suitable patient follow-up and may increase quality of life143

Neonatal screening for severe combined immunodeficiency in Brazil,

Abstract Objective To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil. Methods 8715 newborn blood samples were collected on filter paper and, after DNA elution, TRECs were quantified by real-time polymerase chain reaction. The cutoff value to determine whether a sample was abnormal was determined by ROC curve analysis, using SSPS. Results The concentration of TRECs in 8,682 samples ranged from 2 to 2,181 TRECs/µL of blood, with mean and median of 324 and 259 TRECs/µL, respectively. Forty-nine (0.56%) samples were below the cutoff (30 TRECs/µL) and were reanalyzed. Four (0.05%) samples had abnormal results (between 16 and 29 TRECs/µL). Samples from patients previously identified as having severe combined immunodeficiency or DiGeorge syndrome were used to validate the assay and all of them showed TRECs below the cutoff. Preterm infants had lower levels of TRECs than full-term neonates. The ROC curve showed a cutoff of 26 TRECs/µL, with 100% sensitivity for detecting severe combined immunodeficiency. Using this value, retest and referral rates were 0.43% (37 samples) and 0.03% (3 samples), respectively. Conclusion The technique is reliable and can be applied on a large scale after the training of technical teams throughout Brazil

Doctors' awareness concerning primary immunodeficiencies in Brazil

Background: PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. the latter is what we aimed to evaluate in Brazil.Methods: Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers.Results: A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. the mean score of correct answers for the 25 clinical situations was 48.08% (+/- 16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately.Conclusions: There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs. (C) 2014 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.Jeffrey Modell FoundationBrazilian Jeffrey Modell CentreUniversidade Federal de São Paulo, São Paulo, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Hosp, Brasilia, DF, BrazilChildrens Hosp, Brasilia, DF, BrazilAlbert Sabin Childrens Hosp, Fortaleza, Ceara, BrazilUniv Estadual Montes Claros, Montes Claros, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv São Paulo, Fac Med Ribeirao Preto, BR-14049 Ribeirao Preto, BrazilFac Med Sao Jose Rio Preto, Sao Jose Do Rio Preto, BrazilUniv Hosp Sao Vicente Paulo, Passo Fundo, BrazilJoana Gusmao Childrens Hosp, Florianopolis, SC, BrazilUniv Hosp Muller, Fac Med, Cuiaba, BrazilUniv Fed Mato Grosso, Cuiaba, BrazilNipo Brasileiro Hosp, São Paulo, BrazilHosp lsraelita Albert Einstein, São Paulo, BrazilUniv Fed Rio Grande do Norte, Natal, RN, BrazilUniv Fed Uberlandia, BR-38400 Uberlandia, MG, BrazilUniv Fed Bahia, Complexo Hosp Univ Prof Edgar Santos, Salvador, BA, BrazilUniv Estadual Piaui, Teresina, BrazilABC, Fac Med, Santo Andre, BrazilUniv Fed Minas Gerais, Belo Horizonte, MG, BrazilUniv Ctr Para, Belem, Para, BrazilMed Course Lusiada Univ Ctr UNILUS, Dept Pediat, Santos, BrazilUniv Fed Sergipe, Aracaju, BrazilHosp Servidor Publ Municipal, São Paulo, BrazilUniv São Paulo, Inst Biomed Sci, BR-05508 São Paulo, BrazilUniv Estadual Campinas, Sch Med, Dept Pediat, Campinas, BrazilPrivate Off, Macapa, BrazilHosp Ministro Costa Cavalcanti, Foz Do Iguacu, BrazilChildrens Hosp Cosme & Damitio, Rondonia, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc