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.

Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications.

BACKGROUND: Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency. The objectives of this study were to analyze the diagnosis, treatment, and prognosis of SCID in Brazil and to document the impact of BCG vaccine. METHODS: We actively searched for cases by contacting all Brazilian referral centers. RESULTS: We contacted 23 centers and 70 patients from 65 families. Patients were born between 1996 and 2011, and 49 (70%) were male. More than half (39) of the diagnoses were made after 2006. Mean age at diagnosis declined from 9.7 to 6.1 months (P = .058) before and after 2000, respectively, and mean delay in diagnosis decreased from 7.9 to 4.2 months (P = .009). Most patients (60/70) were vaccinated with BCG before the diagnosis, 39 of 60 (65%) had complications related to BCG vaccine, and the complication was disseminated in 29 of 39 (74.3%). Less than half of the patients (30, 42.9%) underwent hematopoietic stem cell transplantation (HSCT). Half of the patients died (35, 50%), and 23 of these patients had not undergone HSCT. Disseminated BCG was the cause of death, either alone or in association with other causes, in 9 of 31 cases (29%, no data for 4 cases). CONCLUSIONS: In Brazil, diagnosis of SCID has improved over the last decade, both in terms of the number of cases and age at diagnosis, although a much higher number of cases had been expected. Mortality is higher than in developed countries. Complications of BCG vaccine are an important warning sign for the presence of SCID and account for significant morbidity during disease progression.

Severity scoring of atopic dermatitis: a comparison of two scoring systems.

BACKGROUND: Atopic dermatitis (AD) is a chronic inflammatory pruritic skin heterogeneous disease, which does not have an objective tool able to permit comparison between patients and to monitor changes due to a specific treatment. Several assessment methods have been developed to evaluate the AD. OBJECTIVES: The aim of this study was to investigate the agreement between two observers in the assessment of the severity of AD applying SCORAD index and EASI in infants and young children with AD. The variations of parameters that compose each score, as well as the inter-observer variation for both scores, were also studied. METHODS: We evaluated 42 infants and young children admitted and followed in a paediatric allergy centre (UNIFESP-EPM). All children met the diagnostic criteria for clinical AD established by Hanifin and Rajka. Two investigators graded the severity of AD, applying the SCORAD index and EASI. The two scoring systems assessed the variation between baseline evaluation and one month after treatment. RESULTS: Significant correlations were observed comparing both scores for each physician and each evaluation. There were no differences between the mean SCORAD and EASI scores for each physician, in the two evaluations. There was a significant decrease in the mean total SCORAD and EASI score and its components, except for the item Upper Extremities EASI CONCLUSION: Both scoring systems for AD are valid, reproducible and responsive in monitoring AD patients. Further studies will be necessary to investigate the development of AD and the best evaluation. SCORAD showed itself to be an excellent score to detect the development of AD, whereas the EASI are suitable to follow up in drug-effect studies of AD for research purposes.