Case presentation methods: a randomized controlled trial of the one-minute preceptor versus SNAPPS in a controlled setting.

INTRODUCTION: One-minute preceptor (OMP) and SNAPPS (a mnemonic for Summarize history and findings; Narrow the differential; Analyze the differential; Probe the preceptor about uncertainties; Plan management; and Select case-related issues for self-study) are educational techniques developed to promote learners' expression of clinical reasoning during the case presentation in the workplace. The aim of this present study was to compare the content of the case presentation between the SNAPPS and the OMP methods. METHODS: This was a randomized controlled trial comparing SNAPPS and OMP in 60 medical students at the beginning of their fifth year of medical school. After an introduction session, students presented and discussed two cases based on real patients and provided in written format. All case presentations were recorded and evaluated by two researchers. The assessed elements of the case presentations were divided into three subgroups related to expression of clinical reasoning, time and initiative to guide the presentation. RESULTS: There were 30 participants in each group. There was no difference in the expression of clinical reasoning between OMP and SNAPPS groups (number of differential diagnoses, justification of most likely diagnosis and differential diagnosis, expression of comparing and contrasting hypotheses). However, students in the SNAPPS group expressed significantly more questions and uncertainties (p < 0.001), and more often took the initiative to present and justify the most likely diagnosis, differential diagnosis and management plan than students in the OMP group, both in simple and complex cases (all p values <0.001) without extending the length of the teaching session. CONCLUSION: OMP and SNAPPS equally promote medical students' expression of clinical reasoning. The SNAPPS technique was more effective than the OMP technique in helping students to take on an active role during case presentation. We propose SNAPPS as an effective learning tool, engaging students and promoting the expression of their clinical reasoning as part of a case presentation.

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Chitotriosidase (ChT) is a human chitinase secreted by activated macrophages and its activity is used in therapeutic monitoring of Gaucher disease (GD), the most common lysosomal storage disease. About 6% of the population is homozygous for a duplication of 24 bp in exon 11 of the CHIT1 gene (dup24), which is the main polymorphism that results in the absence of ChT. As ChT enzyme activity can be used as a biomarker in GD, it is important to know the CHIT1 genotype of each patient. In this study, ChT activity and CHIT1 genotype were evaluated in 33 GD type 1 patients under treatment in the state of Minas Gerais, Brazil, and compared to healthy controls. As expected, the enzyme activity was found to be higher in GD type 1 patients than in healthy subjects. Four patients had no ChT activity. Their genotype revealed three patients (9%) homozygous for dup24 allele and one patient with two polymorphisms in exon 11: G354R and a 4 bp deletion at the exon-intron 11 boundary (g.16993_16996delGAGT), the later described for the first time in literature. Two other patients with lower ChT activity presented a polymorphism in exon 4 (c.304G>A, p.G102S), without dup24 allele. In conclusion, this study demonstrated that ChT activity can be used for therapeutic monitoring in 82% of GD patients of the state of Minas Gerais, Brazil.

Púrpura trombocitopênica imune da criança: experiência de 12 anos em uma única instituição brasileira / Childhood immune thrombocytopenic purpura: 12-year experience of a single Brazilian institution

O objetivo deste trabalho foi determinar a frequência dos quadros clínicos da púrpura trombocitopênica imune e sua associação com contagem de plaquetas, taxa de resposta à esplenectomia e fatores preditivos do desfecho e da evolução para a cronicidade. Realizou-se estudo retrospectivo com 187 crianças diagnosticadas no Hospital das Clínicas da UFMG, entre 04/1988 e 12/2001. Quadros assintomáticos e leves corresponderam a 76 por cento do total. Hemorragias exclusivamente cutâneas ocorreram em 96 por cento dos casos sintomáticos. A gravidade dos sintomas associou-se à intensidade da plaquetopenia. Evolução aguda foi apresentada por 123 pacientes (70,7 por cento) e crônica por 51 (29,3 por cento). A apresentação insidiosa (26,2 por cento) associou-se a um maior número de esplenectomias (p=4x10-7), a uma menor taxa de resposta à corticoterapia (p=0,003) e constituiu-se, juntamente com a ausência de resposta à corticoterapia (p<1x10-7), em fator preditivo da cronicidade (p=1x10-7). Taxa de resposta de 74,5 por cento foi alcançada com a esplenectomia. Remissão foi o desfecho final em 80,2 por cento dos pacientes. Foram preditivos de remissão final: gênero masculino (p=0,02), número baixo de plaquetas ao diagnóstico (p=0,004), resposta à corticoterapia (p=0,003) e ocorrência de uma primeira remissão (p<1x10-7). Confirmou-se que a doença na criança é benigna e autolimitada. Houve associação entre gravidade dos sintomas e intensidade da plaquetopenia. Constituíram-se fatores preditivos da cronicidade: apresentação insidiosa e ausência de resposta à corticoterapia. Constituíram-se fatores associados à remissão final: gênero masculino, número mais baixo de plaquetas ao diagnóstico, resposta à corticoterapia inicial e ocorrência de uma primeira remissão.

The objective of this work was to determine the frequency of clinical manifestations of immune thrombocytopenic purpura and its association with platelet count, response to splenectomy and predictive factors for response and chronicity. This retrospective study included 187 children diagnosed at Hospital das Clínicas, Federal University of Minas Gerais, Brazil, between April 1988 and December 2001. About 76 percent of the cases had asymptomatic or clinically mild disease. Cutaneous bleeding alone was seen in 96 percent of the symptomatic cases. Severity of symptoms was associated with low platelet count. The acute disease was observed in 123 patients (70.7 percent) and 51 (29.3 percent) developed the chronic disease. Insidious presentation (26.2 percent) was associated with a larger number of splenectomies (p=4x10-7) and with a reduced response to steroids (p=0.003). Additionally, the lack of response to steroids (p<1x10-7) and insidious presentation were predictive factors for chronicity (p=1x10-7). Splenectomy resulted in remission in 74.5 percent. Remission was the final outcome for 80.2 percent of patients. Remission-associated factors included being male (p=0.02), a lower platelet count at diagnosis (p=0.004), response to steroids (p=0.003), and the occurrence of a first remission (p<1x10-7). The disease in childhood is benign and self-limiting with severity of symptoms being associated with a low platelet count.

Hemangioma gigante tratado com Interferon Alfa-2a / Giant hemangioma treated with interferon alpha-2a

Objetivo: Os autores descrevem um caso de hemangioma gigante na infância tratado com interferon alfa-2a e fazem a revisäo da literatura pertinente ao uso dessa droga e de outras modalidades terapêuticas nesse tipo de lesäo vascular. Métodos: Uma criança de sete meses de idade, portadora de hemangioma gigante complicado com anemia persistente, hemorragias e infecçöes de repetiçäo, foi tratada com interferon alfa-2a. A dose utilizada foi de 3 milhöes de unidades/m2/dia, por via subcutânea, durante um período de nove meses. Resultados: A paciente apresentou uma excelente resposta ao tratamento instituído, com regressäo de cerca de 90 por cento da lesäo, controle da anemia, infecçöes e hemorragias, e retomada do crescimento. Näo foram detectados efeitos colaterais...