Replication and Fine Mapping for Association of the C2orf43, FOXP4, GPRC6A and RFX6 Genes with Prostate Cancer in the Chinese Population

Prostate cancer represents the leading cause of male death across the world. A recent genome-wide association study (GWAS) identified five novel susceptibility loci for prostate cancer in the Japanese population. This study is to replicate and fine map the potential association of these five loci with prostate cancer in the Chinese Han population.In Phase I of the study, we tested the five single nucleotide polymorphisms (SNPs) which showed the strongest association evidence in the original GWAS in Japanese. The study sample consists of 1,169 Chinese Hans, comprising 483 patients and 686 healthy controls. Then in phase II, flanking SNPs of the successfully replicated SNPs in Phase I were genotyped and tested for association with prostate cancer to fine map those significant association signals.We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.60×10(-5)), rs12653946 (P = 1.33×10(-6)), rs1983891 (FOXP4, P = 6.22×10(-5)), and rs339331 (GPRC6A/RFX6, P = 1.42×10(-5)) with prostate cancer. The most significant odds ratio (OR) was recorded as 1.41 (95% confidence interval 1.18-1.68) for rs12653946. Rs9600079 did not show significant association (P = 8.07×10(-2)) with prostate cancer in this study. The Phase II study refined these association signals, and identified several SNPs showing more significant association with prostate cancer than the very SNPs tested in Phase I.Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations. This study also characterized the novel loci reported in the original GWAS with more details. Further work is still required to determine the functional variations and finally clarify the underlying biological mechanisms

Isolation of bacteria from soil surrounding of rafflesla Kerri Meijer in Lojing Highlands, Kelantan

Upstream Lojing Highland, Kelantan is chosen as the study area to isolate the bacteria from soil surrounding the Rafflesia kerri flower. Rqf/lesia kerri is attraction for tourist in the Lojing Highlands. The objectives of this study is to assess the distances association of soil bacteria from Rqfflesia kerri by identify the morphology characteristics of soil bacteria using Gram staining method. Soil samples were collected with different distances from the Rafflesia flower which are 20, 40 and 60 meters. A total number of 34 isolated bacteria were obtained growth on the Nutrient Agar plate. Gram staining method was used to determine Gram positive and negative bacteria by observed under light microscope. Morphology characteristics bacteria were characterized through form and Gram staining. The percentage form of bacteria obtained are as follows: irregular (38%), filamentous (29%), spindle and rhizoid both (12%) and circular (9%). Irregular form is the common shape for soil bacteria. Result from the Gram staining shows 65% of bacteria are from the Gram positive bacteria, meanwhile Gram negative are 35%. The results also identified that five species of bacteria inhabited on soil surrounding of Rqf/lesia kerri flower as follows: Corynebaclerium diphrheriae. Bacillus sublilis. Staphylococcus aureus, Escherichia coli and Spirilium volurans. As conclusion, number of colonies of soil sample collected from distances near to Rafllesia kerri ‘flower higher than distances far to flower and mostly the soil bacteria collected is irregular form and positive Gram bacteria

Şantierul arheologic Suceava. Raport preliminar asupra săpăturilor din campania anului 1955 / Le chantier archéologique de Suceava

Nestor Ion, Diaconu Gheorghe, Matei Mircea D., Martinovici Trifu, Constantinescu Nicolae, Olteanu Ştefan. Şantierul arheologic Suceava. Raport preliminar asupra săpăturilor din campania anului 1955 / Le chantier archéologique de Suceava. In: Materiale şi cercetări arheologice, N°4 1957. pp. 239-278

Şantierul arheologic Suceava (r. şi reg. Suceava)

Nestor Ion, Martinovici Trifu, Matei Mircea D., Diaconu Gheorghe, Olteanu Ştefan, Constantinescu Nicolae. Şantierul arheologic Suceava (r. şi reg. Suceava). In: Materiale şi cercetări arheologice, N°5 1959. pp. 593-618

Şantierul arheologic Suceava / Le chantier archéologique de Suceava

Matei Mircea D., Foit Grigore, Martinovici Trifu, Nicorescu Mara, Teodor Dan G., Constantinescu Nicolae, Andronic Alexandru. Şantierul arheologic Suceava / Le chantier archéologique de Suceava. In: Materiale şi cercetări arheologice, N°9 1970. pp. 373-399

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. In all, eight cases have been reported, with the age at onset of diabetes in the first 2 weeks of life. Here we report two individuals born to double first cousins in whom intestinal atresias consistent with a diagnosis of Mitchell-Riley syndrome were diagnosed at birth, but in whom diabetes did not present until the ages of 3 and 6 years. Novel compound heterozygous RFX6 nonsense mutations (p.Arg726X/p.Arg866X) were identified at the 3' end of the gene. The later onset of diabetes in these patients may be due to incomplete inactivation of RFX6. Genetic testing for RFX6 mutations should be considered in patients presenting with intestinal atresias in the absence of neonatal diabetes.This article is freely available via the publisher's site - click on the 'Additional Link' above to access the full text.098395/Wellcome Trust/United Kingdo

Fetal liver iron overload: The role of MR imaging

Objective: To assess the potential role of MR imaging in the diagnosis of fetal liver iron overload. Methods: We reviewed seven cases of abnormal liver signal in fetuses referred to MR imaging in a context of suspected congenital infection (n∈=∈2), digestive tract anomalies (n∈=∈3) and hydrops fetalis (n∈=∈2). The average GA of the fetuses was 31 weeks. The antenatal diagnoses were compared with histological data (n∈=∈6) and postnatal work-up (n∈=∈1). Results: Magnetic resonance imaging demonstrated unexpected abnormal fetal liver signal suggestive of iron overload in all cases. The iron overload was confirmed on postnatal biopsy (n∈=∈2) and fetopathology (n∈=∈4). The final diagnosis was hepatic hemosiderosis (haemolytic anaemia (n∈=∈2) and syndromal anomalies (n∈=∈2)) and congenital haemochromatosis (n∈=∈3). In all cases, the liver appeared normal on US. Conclusions: Magnetic resonance is the only imaging technique able to demonstrate liver iron overload in utero. Yet, the study outlines the fundamental role of MR imaging in cases of congenital haemochromatosis. The antenatal diagnosis of such a condition may prompt ante-(in the case of recurrence) or neonatal treatment, which might improve the prognosis. © 2010 European Society of Radiology.SCOPUS: ar.jinfo:eu-repo/semantics/publishe