9 research outputs found
A Bubbling Nearby Molecular Cloud: COMPLETE Shells in Perseus
We present a study on the shells (and bubbles) in the Perseus molecular cloud
using the COMPLETE survey large-scale 12CO(1-0) and 13CO(1-0) maps. The twelve
shells reported here are spread throughout most of the Perseus cloud and have
circular or arc-like morphologies with a range in radius of about 0.1 to 3 pc.
Most of them have not been detected before most likely as maps of the region
lacked the coverage and resolution needed to distinguish them. The majority of
the shells are coincident with infrared nebulosity of similar shape and have a
candidate powering source near the center. We suggest they are formed by the
interaction of spherical or very wide-angle winds powered by young stars inside
or near the Perseus molecular cloud -a cloud that is commonly considered to be
mostly forming low-mass stars. Two of the twelve shells are powered by
high-mass stars close to the cloud, while the others appear to be powered by
low or intermediate mass stars in the cloud. We argue that winds with a mass
loss rate of about 10^-8 to 10^-6 M_sun/yr are required to produce the observed
shells. Our estimates indicate that the energy input rate from these stellar
winds is similar to the turbulence dissipation rate. We conclude that in
Perseus the total energy input from both collimated protostellar outflows and
powerful spherical winds from young stars is sufficient to maintain the
turbulence in the molecular cloud. Large scale molecular line and IR continuum
maps of a sample of clouds will help determine the frequency of this phenomenon
in other star forming regions.Comment: 48 pages in total: 16 pages of text and references; 2 pages of
tables; 30 figures (one page per figure). Accepted for publication in the
Astrophysical Journa
BRAF with or without MEK inhibition plus PD-1 checkpoint blockade for the treatment of metastatic melanoma.
Consensus characterization of 16 FMR1 reference materials: A consortium study
Fragile X syndrome, which is caused by expansion of a (CGG)n repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)n repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. An FMR1-sizing assay is technically challenging because of high GC content of the (CGG)n repeat, the size limitations of conventional PCR, and a lack of reference materials available for test development/validation and routine quality control. The Centers for Disease Control and Prevention and the Association for Molecular Pathology, together with the genetic testing community, have addressed the need for characterized fragile X mutation reference materials by developing characterized DNA samples from 16 cell lines with repeat lengths representing important phenotypic classes and diagnostic cutoffs. The alleles in these materials were characterized by consensus analysis in nine clinical laboratories. The information generated from this study is available on the Centers for Disease Control and Prevention and Coriell Cell Repositories websites. DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology
Prolonged survival of a patient with metastatic leptomeningeal melanoma treated with BRAF inhibition-based therapy: a case report
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 individuals with cystic fibrosis in registries and clinics in North America and Europe. In these individuals, 159 CFTR variants had an allele frequency of ≥0.01%. These variants were evaluated for both clinical severity and functional consequence, with 127 (80%)
meeting both clinical and functional criteria consistent with disease. Assessment of disease penetrance in 2,188 fathers of individuals with cystic fibrosis enabled assignment of 12 of the remaining 32 variants as neutral, whereas the other 20 variants remained of indeterminate effect. This study illustrates that sourcing data directly from well-phenotyped subjects can address
the gap in our ability to interpret clinically relevant genomic variation.This work was supported by grants from the NIDDK (5R37DK044003 to G.R.C.) and the US NIH (DK49835 to P.J.T.) and by funding from Cystic Fibrosis Foundation Therapeutics, Inc. (to P.J.T.), the US Cystic Fibrosis Foundation (CUTTING08A, CUTTING09A and CUTTING10A to G.R.C. and SOSNAY10Q to P.R.S.) and FCTPortugal (PIC/IC/83103/2007 and PEstOE/BIA/UI4046/2011 to M.D.A. and BioFIG)