Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India

Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center. Materials and Methods: One hundred and thirty cases of MPN were included in this study. These cases were diagnosed and classified based on the World Health Organization 2008 criteria. JAK2 and MPL mutations were detected using high sensitivity allele-specific polymerase chain reaction using fluorescent labeled primers followed by capillary electrophoresis. A subset of JAK2 and CALR mutations were assessed using a fragment length assay. Results: Among the MPN, we had 20 cases of polycythemia vera (PV), 34 cases of essential thrombocythemia (ET), and 59 of myelofibrosis (MF). JAK2, MPL, and CALR mutations were mutually exclusive of each other. Seventeen cases were categorized as MPN unclassifiable (MPN-U). JAK2p.V617F and MPL mutations were present in 60% (78 of 130) and 5.3% (7 of 130) of all MPN. All the PV cases harbored the JAK2 p.V617F mutation. A total of 23.8% (31 of 130) of patients harbored CALR mutations. CALR exon 9 mutations were detected in 60.8% (14 of 23) and 50% (5 of 10) of JAK2 and MPL negative MF and ET cases, respectively. MPN-U cases included three JAK2 p.V617F positive, two MPL p.W515 L, and 12 CALR positive cases. Ten different types of CALR indels (8 deletions and 2 insertions) were detected of which Type I and Type II mutations were the most common, occurring at a frequency of 45.1% (14 of 31) and 22.5% (7 of 31), respectively. Discussion and Conclusion: We report frequencies of JAK2 p. V617F, MPL exon 10 and CALR mutations in 130 patients similar to those reported in western literature. These mutations carry not only diagnostic but also prognostic relevance

Risk indicators and risk predictors of dental caries in schoolchildren

The purpose of this study was to identify risk indicators of high caries level at baseline (HCLB) based on cross-sectional data and predictors of high caries increment (HCI) based on a 7-year-follow-up examination in 6-8-year-old schoolchildren. Two hundred and six schoolchildren were examined in 1997 and in 2004 by the same two calibrated dentists, in Piracicaba, Brazil. At baseline, dental caries, presence of sealants, fluorosis, and oral hygiene status were recorded. The children's parents completed a questionnaire concerning socioeconomic level, fluoride use, dental service utilization, dietary and oral hygiene habits. HCLB and HCI were defined considering the upper quartile of the total caries experience distribution (dmfs+DMFS) and caries increment distribution, respectively. Logistic regression models were adjusted estimating the Odds Ratio (OR), 95% confidence intervals and p-values. Having white spot lesions (OR=5.25) was found to be a risk indicator of HCLB. Schoolchildren with dental fluorosis (OR=0.17) or those who brushed the teeth more than two times a day (OR=0.37) presented less probability of HCLB. The predictors of HCI were: dmfs>0 (OR=2.68) and mothers' educational level up to 8 years of schooling (OR=2.87). Clinical and socioeconomic variables were found to be risk indicators and/or predictors of dental caries in schoolchildren

Mineralogical characterization of a highly-weathered soil by the Rietveld Method Caracterização mineralógica de um solo altamente intemperizado pelo Método de Rietveld

The mineralogical characterization through mineral quantification of Brazilian soils by X-ray diffraction data using the Rietveld Method is not common. A mineralogical quantification of an Acric Ferralsol from the Ponta Grossa region, state of Paraná, Brazil, was carried out using this Method with X-Ray Diffraction data to verify if this method was suitable for mineral quantification of a highly-weathered soil. The A, AB and B3 horizons were fractioned to separate the different particle sizes: clay, silt, fine sand (by Stokes Law) and coarse sand fractions (by sieving), with the procedure free of chemical treatments. X-ray Fluorescence, Inductively Coupled Plasma Atomic Emission Spectrometry, Infrared Spectroscopy and Mössbauer Spectroscopy were used in order to assist the mineral identification and quantification. The Rietveld Method enabled the quantification of the present minerals. In a general way, the quantitative mineralogical characterization by the Rietveld Method revealed that quartz, gibbsite, rutile, hematite, goethite, kaolinite and halloysite were present in the clay and silt fractions of all horizons. The silt fractions of the deeper horizons were different from the more superficial ones due to the presence of large amounts of quartz. The fine and the coarse sand fractions are constituted mainly by quartz. Therefore, a mineralogical quantification of the finer fraction (clay and silt) by the Rietveld Method was successful.<br>A caracterização mineralógica por meio da quantificação dos minerais presentes em solos brasileiros por difração de raios X usando o Método de Rietveld é, ainda, pouco comum. Neste trabalho foi realizada a quantificação mineralógica de um Latossolo Vermelho ácrico da região de Ponta Grossa, Paraná, Brasil, utilizando o Método de Rietveld com dados de Difração de Raios X e também verificado se o método foi adequado na quantificação mineral de um solo altamente intemperizado. Os horizontes A, AB e B3 foram separados fisicamente nas frações: argila, silte, areia fina (por meio da Lei de Stokes) e areia grossa (por peneiramento) sem qualquer tratamento químico. As técnicas de Fluorescência de raios X, Espectroscopia de Emissão Atômica com Fonte de Plasma Induzido, Espectroscopia de Infravermelho e Espectroscopia Mössbauer foram utilizadas para auxiliar na identificação e quantificação dos minerais. O Método de Rietveld possibilitou a quantificação dos minerais presentes nas frações argila e silte de todos os horizontes: quartzo, gibbsita, rutílio, hematita, goethita, caulinita e haloisita. Na fração silte os horizontes mais profundos são diferentes do mais superficial devido à presença de grandes quantidades de quartzo. As frações areia fina e grossa são constituídas principalmente de quartzo. Portanto, o Método de Rietveld foi adequado para quantificação dos minerais, principalmente, das frações mais finas (argila e silte)