433 research outputs found
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome
BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history
Airway obstruction by extrinsic tracheal compression during spinal surgery under prone position -A case report-
Tracheal compression by vascular anomalies in adults is uncommon and most related reports are of children. A 79-year-old woman without any respiratory history underwent a lumbar spine surgery under general anesthesia. She suddenly developed airway obstruction after a position change from supine to prone. A fiberoptic bronchoscopy showed the obstruction of endotracheal tube. The obstruction was relieved after we changed the depth of endotracheal tube and supported the patient's neck with a cotton roll. The surgery ended without any other event and the patient recovered safely. A computed tomography revealed the rightward tracheal deviation and tortuous innominate artery contact with trachea. The patient didn't manifest any respiratory related symptoms during postoperative period, and she was discharged without any treatment
The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-β1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother
Correction: Comparison of 2‑year mortality according to obesity in stabilized patients with type 2 diabetes mellitus after acute myocardial infarction: results from the DIAMOND prospective cohort registry
Comparison of 2-year mortality according to obesity in stabilized patients with type 2 diabetes mellitus after acute myocardial infarction: results from the DIAMOND prospective cohort registry
Measurements of double-helicity asymmetries in inclusive production in longitudinally polarized collisions at GeV
We report the double helicity asymmetry, , in inclusive
production at forward rapidity as a function of transverse momentum
and rapidity . The data analyzed were taken during
GeV longitudinally polarized collisions at the Relativistic Heavy Ion
Collider (RHIC) in the 2013 run using the PHENIX detector. At this collision
energy, particles are predominantly produced through gluon-gluon
scatterings, thus is sensitive to the gluon polarization
inside the proton. We measured by detecting the decay
daughter muon pairs within the PHENIX muon spectrometers in the
rapidity range . In this kinematic range, we measured the
to be ~(stat)~~(syst). The
can be expressed to be proportional to the product of the
gluon polarization distributions at two distinct ranges of Bjorken : one at
moderate range where recent RHIC data of jet and
double helicity spin asymmetries have shown evidence for significant gluon
polarization, and the other one covering the poorly known small- region . Thus our new results could be used to further
constrain the gluon polarization for .Comment: 335 authors, 10 pages, 4 figures, 3 tables, 2013 data. Version
accepted for publication by Phys. Rev. D. Plain text data tables for the
points plotted in figures for this and previous PHENIX publications are (or
will be) publicly available at http://www.phenix.bnl.gov/papers.htm
Nuclear matter effects on production in asymmetric Cu+Au collisions at = 200 GeV
We report on production from asymmetric Cu+Au heavy-ion collisions
at =200 GeV at the Relativistic Heavy Ion Collider at both
forward (Cu-going direction) and backward (Au-going direction) rapidities. The
nuclear modification of yields in CuAu collisions in the Au-going
direction is found to be comparable to that in AuAu collisions when plotted
as a function of the number of participating nucleons. In the Cu-going
direction, production shows a stronger suppression. This difference is
comparable in magnitude and has the same sign as the difference expected from
shadowing effects due to stronger low- gluon suppression in the larger Au
nucleus. The relative suppression is opposite to that expected from hot nuclear
matter dissociation, since a higher energy density is expected in the Au-going
direction.Comment: 349 authors, 10 pages, 4 figures, and 4 tables. Submitted to Phys.
Rev. C. For v2, fixed LaTeX error in 3rd-to-last sentence. Plain text data
tables for the points plotted in figures for this and previous PHENIX
publications are (or will be) publicly available at
http://www.phenix.bnl.gov/papers.htm
Inclusive cross section and double-helicity asymmetry for production at midrapidity in collisions at GeV
PHENIX measurements are presented for the cross section and double-helicity
asymmetry () in inclusive production at midrapidity from
collisions at ~GeV from data taken in 2012 and 2013 at
the Relativistic Heavy Ion Collider. The next-to-leading-order
perturbative-quantum-chromodynamics theory calculation is in excellent
agreement with the presented cross section results. The calculation utilized
parton-to-pion fragmentation functions from the recent DSS14 global analysis,
which prefer a smaller gluon-to-pion fragmentation function. The
results follow an increasingly positive asymmetry trend with
and with respect to the predictions and are in excellent
agreement with the latest global analysis results. This analysis incorporated
earlier results on and jet , and suggested a positive
contribution of gluon polarization to the spin of the proton for the
gluon momentum fraction range . The data presented here extend to a
currently unexplored region, down to , and thus provide additional
constraints on the value of . The results confirm the evidence for
nonzero using a different production channel in a complementary
kinematic region.Comment: 413 authors, 8 pages, 4 figures. v2 is version accepted as PRD Rapid
Communication. Plain text data tables for the points plotted in figures for
this and previous PHENIX publications are (or will be) publicly available at
http://www.phenix.bnl.gov/papers.htm
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