Κυριακή 18 Νοεμβρίου 2018
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene
Analyses of LMNA -negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Abstract
Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ starting in childhood. Hutchinson–Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin, is a prototypical example of such disorders. Here, we performed a joint collaborative study using massively parallel sequencing and targeted Sanger sequencing, aimed at delineating the underlying genetic cause of 14 previously undiagnosed, clinically heterogeneous, non-LMNA-associated juvenile progeroid patients. The molecular diagnosis was achieved in 11 of 14 cases (~ 79%). Furthermore, we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann–Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes. We additionally expand the clinical spectrum associated with PYCR1 mutations by showing that they can somewhat resemble HGPS in the first year of life. Moreover, our results lead to clinical reclassification in one single case. Our data emphasize the complex genetic and clinical heterogeneity underlying progeroid disorders.
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Comment on “Race/Ethnicity and Sex Both Affect Opioid Administration in the Emergency Room”
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Systematic Review of the Efficacy and Safety of Gabapentin and Pregabalin for Pain in Children and Adolescents
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Glycocalyx Degradation Is Independent of Vascular Barrier Permeability Increase in Nontraumatic Hemorrhagic Shock in Rats
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In Response
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Progressive Increase in Scholarly Productivity of New American Board of Anesthesiology Diplomates From 2006 to 2016: A Bibliometric Analysis
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Essentials of Anesthesia for Infants and Neonates
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Intraluminal Pulmonary Vein Stenosis in Children: A “New” Lesion
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238Pu/(239+240)Pu activity ratio as an indicator of Pu originating from the FDNPP accident in the terrestrial environment of Fukushima Prefecture
Publication date: January 2019
Source: Journal of Environmental Radioactivity, Volume 196
Author(s): R. Kierepko, S.K. Sahoo, M. Hosoda, S. Tokonami, A. Sorimachi, E. Kim, M. Ohno
Abstract
The Fukushima Dai-ichi Nuclear Power Plant (FDNPP) accident has caused significant radionuclide contamination. Pu isotopes at the level of GBq were released from the damaged reactors to terrestrial and marine ecosystems. In this work, 35 samples were collected at different locations of Fukushima. Samples consisted of three types, soil, forest litter and alluvial dust (road dust, sludges from drainage systems and below gutter pipe outflows). The obtained activity ratios of 238Pu/(239+240)Pu ranged from 0.030 to 1.86. 14 of our samples contained trace amounts of Pu originating from the damaged reactors (2SM verification). Our study identified a few previously unknown "hot spots" of 238Pu/(239+240)Pu activity ratio localized in an area between 15 and 30 km in the northwest direction from the FDNPP. Additionally, results obtained in this study combined with previously published data allowed us to prepare a map of spatial distribution of the Pu isotope fingerprints (238Pu/(239+240)Pu) in Fukushima Prefecture.
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The Use of Point-of-Care Ultrasonography in Trauma Anesthesia
Publication date: Available online 17 November 2018
Source: Anesthesiology Clinics
Author(s): Davinder Ramsingh, Venkat Reddy Mangunta
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Editorial Board
Publication date: October–December 2018
Source: Mutation Research/Reviews in Mutation Research, Volume 778
Author(s):
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