RESUMEN
Congenital leukemia is a rare disease in the newborns. It poses, however, many problems both for the clinician and for the biologist. Although of unknown etiology, the development of neonatal acute leukemia suggests a chromosomal rearrangement. Several specific chromosome rearrangements, common in cases of congenital leukemia, have been identified; it implies frequently the MLL gene. The differential diagnosis is difficult and includes different diseases frequently found in the neonatal period. We report the case of a newborn developing acute monocytic leukemia one hour after birth. Cytogenetics revealed a rearrangement of the MLL gene. The child was treated according to the protocol ELAM 02. Unfortunately, she developed multiple organ failure a few days later and died at 5 weeks.
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Leucemia Monocítica Aguda/congénito , Leucemia Monocítica Aguda/diagnóstico , Diagnóstico Diferencial , Resultado Fatal , Femenino , Humanos , Recién NacidoRESUMEN
BACKGROUND: The knowledge of circulating HCV genotypes and subtypes in a country is crucial to guide antiviral therapy and to understand local epidemiology. Studies investigating circulating HCV genotypes and their trends have been conducted in Belgium. However they are outdated, lack nationwide representativeness or were not conducted in the general population. METHODS: In order to determine the distribution of different circulating HCV genotypes in Belgium, we conducted a multicentre study with all the 19 Belgian laboratories performing reimbursed HCV genotyping assays. Available genotype and subtype data were collected for the period from 2008 till 2015. Furthermore, a limited number of other variables were collected: some demographic characteristics from the patients and the laboratory technique used for the determination of the HCV genotype. RESULTS: For the study period, 11,033 unique records collected by the participating laboratories were used for further investigation. HCV genotype 1 was the most prevalent (53.6%) genotype in Belgium, with G1a and G1b representing 19.7% and 31.6%, respectively. Genotype 3 was the next most prevalent (22.0%). Further, genotype 4, 2, and 5 were responsible for respectively 16.1%, 6.2%, and 1.9% of HCV infections. Genotype 6 and 7 comprise the remaining <1%. Throughout the years, a stable distribution was observed for most genotypes. Only for genotype 5, a decrease as a function of the year of analysis was observed, with respectively 3.6% for 2008, 2.3% for 2009 and 1.6% for the remaining years. The overall M:F ratio was 1.59 and was mainly driven by the high M:F ratio of 3.03 for patients infected with genotype 3. Patients infected with genotype 3 are also younger (mean age 41.7 years) than patients infected with other genotypes (mean age above 50 years for all genotypes). The patients for whom a genotyping assay was performed in 2008 were younger than those from 2015. Geographical distribution demonstrates that an important number of genotyped HCV patients live outside the Belgian metropolitan cities. CONCLUSION: This national monitoring study allowed a clear and objective view of the circulating HCV genotypes in Belgium and will help health authorities in the establishment of cost effectiveness determinations before implementation of new treatment strategies. This baseline characterization of the circulating genotypes is indispensable for a continuous surveillance, especially for the investigation of the possible impact of migration from endemic regions and prior to the increasing use of highly potent direct-acting antiviral (DAA) agents.
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Hepacivirus/genética , Hepatitis C/epidemiología , Hepatitis C/genética , Adulto , Anciano , Bélgica/epidemiología , Femenino , Genotipo , Hepatitis C Crónica/epidemiología , Hepatitis C Crónica/genética , Humanos , Masculino , Persona de Mediana Edad , PrevalenciaRESUMEN
INTRODUCTION: During the past few years, several studies describing direct identification of bacteria from blood culture using mass spectrometry have been published. These methods cannot, however, be easily integrated into a common laboratory workflow because of the high hands-on time they require. In this paper, we propose a new method of identification with a short hands-on time and a turnaround time shorter than 15min. MATERIALS AND METHODS: Positive blood bottles were homogenised and 600µL of blood were transferred to an Eppendorf tube where 600µL of lysis buffer were added. After homogenisation, a centrifugation step of 4min at 10,500g was performed and the supernatant was discarded. The pellet was then washed and loaded in quadruplicate into wells of a Vitek® MS-DS plate. Each well was covered with a saturated matrix solution and a MALDI-TOF mass spectrometry analysis was performed. Species were identified using the software Myla 3.2.0-2. RESULTS: We analysed 266 positive blood culture bottles. A microorganism grew in 261 cultures, while five bottles remained sterile after 48h of incubation in subculture. Our method reaches a probability of detection at the species level of 77.8% (203/261) with a positive predictive value of 99.5% (202/203). CONCLUSION: We developed a new method for the identification of microorganisms using mass spectrometry, directly performed from a positive blood culture. This method has short hands-on time and turnaround time and can easily take place in the workflow of a laboratory, with comparable results in performance with other methods reported in the literature.
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Bacterias/aislamiento & purificación , Técnicas Bacteriológicas/métodos , Cultivo de Sangre/métodos , Espectrometría de Masas/métodos , Factores de Tiempo , Bacterias/clasificación , Bacterias/crecimiento & desarrollo , Infecciones Bacterianas/sangre , Infecciones Bacterianas/microbiología , Sangre/microbiología , Técnicas de Cultivo de Célula , Medios de Cultivo , Laboratorios , Probabilidad , Sensibilidad y Especificidad , Programas InformáticosRESUMEN
Structure-activity relationships (SARs) refer to the relation between chemical structure and pharmacologic activity for a series of compounds. Since the pioneering work of Crum-Brown and Fraser in 1868, they have been increasingly used in the pharmaceutical, chemical and cosmetic industries, especially for drug and chemical design purposes. Structure-activity relationships may be based on various techniques, ranging from considerations of similarity or diversity of molecules to mathematical relationships linking chemical structures to measured activities, the latter being referred to as quantitative SAR or QSAR. This review aims at briefly reviewing the history of SARs and highlighting their interest in delayed and immediate drug allergy using selected examples from the literature. Studies of SAR are commonly conducted in the area of contact dermatitis, a delayed hypersensitivity reaction, to determine the allergenic potential of a given compound without animal testing. In immediate, immunoglobulin E-mediated drug hypersensitivity, this kind of approach remains rather confidential. It has been mainly applied to neuromuscular blocking drugs (muscle relaxants) and betalactam antibiotics (penicillins, cephalosporins). This review shows that SARs can prove useful to (i) predict the allergenic potential of a chemical or a drug, (ii) help identify putative antigenic determinants for each patient or small group of patients sharing the same cross-reactivity pattern, and (iii) predict the likelihood of adverse reactions to related molecules and select safe alternatives.