Disseminated Saprochaete capitata fungal infection in a patient with acute myeloid leukemia.

The case highlights the importance of actively obtaining informative samples at an early stage and of prompt initiation of combination therapy with antifungal drugs.

Bundle Approach to Reduce Bloodstream Infections in Neutropenic Hematologic Patients with a Long-Term Central Venous Catheter.

INTRODUCTION: The objective of the study was to reduce, by a bundle of interventions, the global bloodstream infections and catheter-related bloodstream infections rates in neutropenic hematology patients with a long-term central venous catheter. MATERIAL AND METHODS: This was a non-randomized prospective study. It was conducted in a 20-bed hematology oncology unit (Portuguese Institute of Oncology, Porto, Portugal) between 1st of August 2010 and 31st of January 2012. In this period we introduced a bundle of interventions (study group) and compared the results with the six months prior to implementation (control group). The interventions consisted in the use of a neutral pressure mechanical valve connector instead of a positive pressure mechanical valve connector, a more frequent change of this connector and a more efficient clean solution. One hundred and sixteen hematology patients with a long-term central venous catheter at time superior of 72 h, with 8 867 central venous catheter days [6 756 central venous catheter days in the study group and 2 111 central venous catheter days in the control group] were included in the study. RESULTS: A significant reduction in bloodstream infections rates and catheter-related bloodstream infections rates was achieved. Bloodstream infections rates: [32.69 (control group) vs. 9.43 (study group)], incidence reduction 71% [relative risk 0.2886, CI 95% (0.1793 - 0.4647), p < 0.001] and catheter-related bloodstream infections rates: [17.53 (control group) vs. 4.73 (study group)], incidence reduction 71% [relative risk 0.2936, CI 95% (0.1793 - 0.5615), p < 0.014]. No significant difference (p > 0.05) was found in the neutrophil count at the time of blood culture samples between groups: 69% (< 500 neutrophils/mm3) [71% (study group) vs. 68% (control group)]. CONCLUSIONS: The introduction of this bundle of interventions based on the variables of patient, product and practice, supported by the Healthcare and Technology Synergy framework, quickly resulted in a significant reduction of bloodstream infections and catheter-related bloodstream infections rates.

Introdução: O objetivo deste estudo foi reduzir através de um pacote de medidas as infeções sistémicas e as taxas de infeções com origem no cateter venoso central nos doentes hematológicos em neutropenia com cateter venoso central de longa duração. Material e Métodos: Estudo prospetivo não randomizado realizado na unidade onco-hematológica do Instituto Português de Oncologia do Porto no período compreendido entre 1 de agosto de 2010 até 31 de janeiro de 2012. Durante este período foi introduzido um pacote de medidas (grupo estudo) e comparados os resultados nos 6 meses anteriores à sua implementação (grupo de controlo). As medidas consistiram na utilização de conectores de pressão neutra em detrimento dos conectores de pressão positiva, na sua troca mais frequente e numa solução anti-séptica mais eficaz. Foram incluídos neste estudo 116 doentes hematológicos com cateter venoso central de longa duração inserido por um período superior a 72 h. Foram contabilizados 8 867 dias de cateter (6 756 dias de cateter venoso central no grupo estudo e 2 111 dias de cateter venoso central no grupo de controlo). Resultados: Obteve-se uma redução significativa nas taxas de infeções sistémicas e infeções com origem no cateter venoso central. As taxas de infeções sistémicas: [32,69 (grupo de controlo) vs. 9,43 (grupo estudo)], com uma redução de incidência de 71% [risco relativo 0,2886, CI 95% (0,1793 - 0,4647), p < 0,001] e taxas de infeções com origem no cateter venoso central: [17,53 (grupo de controlo) vs. 4,73 (grupo estudo)], com redução de incidência de 71% [risco relativo 0,2936, CI 95% (0,1793 - 0,5615), p < 0,014]. Não foi encontrada diferença significativa (p > 0,05) na contagem de neutrófilos à data da colheita das amostras de hemoculturas entre ambos os grupos: 69% (< 500 neutrófilos/mm3) [71% (grupo estudo) vs. 68% (grupo de controlo)]. Conclusões: A introdução deste pacote de medidas baseado nas variáveis do paciente, produto e prática, suportado pela estrutura Healthcare and Technology Synergy, resultou numa redução significativa das taxas de infeções sistémicas e infeções com origem no cateter venoso central.

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.

Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by a deficient activity of the enzyme ferrochelatase (FECH), and consequent accumulation of protoporphyrin (PP) in various tissues. Clinical manifestations include a childhood onset, cutaneous photosensitivity and, sometimes, hepatobiliary disease. We report a 16-year-old male with EPP characterized by acute episodes of painful photosensitivity since early infancy, permanent changes in the photoexposed skin, microcytic anemia, thrombocytopenia, and mild hepatic dysfunction. His 18-year-old sister presented less acute symptoms with no chronic changes. Lesional biopsy disclosed perivascular deposition of PAS positive hyaline material. Rimington-Cripps test was positive and PP erythrocyte levels were >9,000 µg/L (N<1,600), but normal in their parents and younger brother. Genetic studies in both patients and their mother revealed heterozygosity for a novel mutation (c.1052delA) in FECH gene of both children, and heterozygosity for the hypomorphic allele IVS3-48T>C in all of them. This confirms the "pseudodominant" inheritance pattern usually observed, explained by the combined presence of a disabling FECH mutation and a common intronic polymorphism affecting the counterpart allele (IVS3-48T>C). Phenotypic heterogeneity for this genotype explains the divergent clinical presentation. This is the first description of a Portuguese family with EPP characterized at the molecular level.