Hamatum osteoblastoma

SummaryWe report the case of an osteoblastoma of the hamate bone that was successfully treated by curettage. This tumor is very rare in a carpal bone and only nine cases have been reported in the literature. Pathological examination is mandatory before treatment due to the lack of distinctive clinical and radiological features. Osteoblastomas are benign, but potentially aggressive bone tumors. Treatment of the lesion may either be a conservative “intralesional resection” or radical “wide en bloc resection”. The latter option, which has non-negligible functional consequences in the wrist, should be reserved for recurrence after curettage but may also be considered a primary immediate alternative for aggressive forms

Ancient mtDNA Genetic Variants Modulate mtDNA Transcription and Replication

Although the functional consequences of mitochondrial DNA (mtDNA) genetic backgrounds (haplotypes, haplogroups) have been demonstrated by both disease association studies and cell culture experiments, it is not clear which of the mutations within the haplogroup carry functional implications and which are “evolutionary silent hitchhikers”. We set forth to study the functionality of haplogroup-defining mutations within the mtDNA transcription/replication regulatory region by in vitro transcription, hypothesizing that haplogroup-defining mutations occurring within regulatory motifs of mtDNA could affect these processes. We thus screened >2500 complete human mtDNAs representing all major populations worldwide for natural variation in experimentally established protein binding sites and regulatory regions comprising a total of 241 bp in each mtDNA. Our screen revealed 77/241 sites showing point mutations that could be divided into non-fixed (57/77, 74%) and haplogroup/sub-haplogroup-defining changes (i.e., population fixed changes, 20/77, 26%). The variant defining Caucasian haplogroup J (C295T) increased the binding of TFAM (Electro Mobility Shift Assay) and the capacity of in vitro L-strand transcription, especially of a shorter transcript that maps immediately upstream of conserved sequence block 1 (CSB1), a region associated with RNA priming of mtDNA replication. Consistent with this finding, cybrids (i.e., cells sharing the same nuclear genetic background but differing in their mtDNA backgrounds) harboring haplogroup J mtDNA had a >2 fold increase in mtDNA copy number, as compared to cybrids containing haplogroup H, with no apparent differences in steady state levels of mtDNA-encoded transcripts. Hence, a haplogroup J regulatory region mutation affects mtDNA replication or stability, which may partially account for the phenotypic impact of this haplogroup. Our analysis thus demonstrates, for the first time, the functional impact of particular mtDNA haplogroup-defining control region mutations, paving the path towards assessing the functionality of both fixed and un-fixed genetic variants in the mitochondrial genome

Regional frequency analysis of extreme rainfalls in the west coast of Peninsular Malaysia using partial l-moments

This study was to reinstate the development of regional frequency analysis using L-moments approach. The Partial L-moments (PL-moments) method was employed and a new relationship for homogeneity analysis is developed. For this study, the PL-moments for generalized logistic (GLO), generalized pareto (GPA) and generalized value (GEV) distributions were derived based on the formula defined by Wang (Water Resour Res 32:1767-1771, 1996). The three distributions are used to develop the regional frequency analysis procedures. As a case of study, the Selangor catchment that consists of 30 sites which located on the west coast of Peninsular Malaysia has chosen as sample. Based on L-moment and PL-moment ratio diagrams as well as Z-test statistics, the GEV and GLO were identified as the best distributions to represent the statistical properties of extreme rainfalls in Selangor. Monte Carlo simulation shows that the method of PL-moments would outperform L-moments method for estimation of large returns period event