Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

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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”

No abstract available

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Systematic Review of the Efficacy and Safety of Gabapentin and Pregabalin for Pain in Children and Adolescents

The barriers to opioid use in some countries necessitate the need to identify suitable alternatives or adjuncts for pain relief. The gabapentinoids (gabapentin and pregabalin) are approved for the management of persistent pain in adults, but not in children. Searches were conducted in Embase, Medline, Scopus, and Web of Science up until November 2017, for randomized controlled trials that investigated the analgesic effects of gabapentin or pregabalin in children and adolescents

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Glycocalyx Degradation Is Independent of Vascular Barrier Permeability Increase in Nontraumatic Hemorrhagic Shock in Rats

BACKGROUND: Glycocalyx shedding after traumatic hemorrhagic or septic shock, as well as different resuscitation fluids, has been causally linked to increased vascular barrier permeability (VBP) resulting in tissue edema. In nontraumatic hemorrhagic shock (NTHS), it remains questionable whether glycocalyx degradation in itself results in an alteration of VBP. The composition of fluids can also have a modulatory effect on glycocalyx shedding and VBP. We hypothesized that the shedding of the glycocalyx during NTHS has little effect on VBP and that the composition of fluids can modulate these effects. METHODS: Fully instrumented Wistar-albino rats were subjected to a pressure-controlled NTHS (mean arterial pressure of 30 mm Hg) for 60 minutes. Animals were fluid resuscitated with Ringer's acetate, balanced hydroxyethyl starch (HES) solution, or 0.9% normal saline to a mean arterial pressure of 80 mm Hg and compared with shams or nonresuscitated NTHS. Glycocalyx shed products were determined at baseline and 60 minutes after fluid resuscitation. Skeletal muscle microcirculation was visualized using handheld vital microscopy. VBP changes were assessed using plasma decay of 3 fluorescent dyes (40- and 500-kDa dextran and 70-kDa albumin), Evans blue dye exclusion, intravital fluorescence microscopy, and determination of tissue edema (wet/dry weight ratio). RESULTS: All glycocalyx shedding products were upgraded as a result of NTHS. Syndecan-1 significantly increased in NTHS (mean difference, −1668; 95% confidence interval [CI], −2336 to −1001; P

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In Response

No abstract available

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Progressive Increase in Scholarly Productivity of New American Board of Anesthesiology Diplomates From 2006 to 2016: A Bibliometric Analysis

BACKGROUND: Improving research productivity is a common goal in academic anesthesiology. Initiatives to enhance scholarly productivity in anesthesiology were proposed more than a decade ago as a result of emphasis on clinical work. We hypothesized that American Board of Anesthesiology diplomates certified from 2006 to 2016 would be progressively more likely to have published at least once during this time period. METHODS: A complete list of 17,332 new diplomates was obtained from the American Board of Anesthesiology for the years 2006 to 2016. These names were queried using PubMed, and the number of publications up to and including the diplomate's year of primary certification was recorded. Descriptive statistics and logistic regression analysis were used to analyze the association of the year of primary certification and whether a diplomate had published at least once. RESULTS: The percentage of American Board of Anesthesiology diplomates with ≥1 publication at the time of primary certification increased from 14.9% to 29.3% from 2006 to 2016. The mean number of publications per diplomate more than doubled from 0.31 to 0.79. Logistic regression analysis revealed the year of primary certification as significantly associated with having ≥1 publication (P

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Essentials of Anesthesia for Infants and Neonates

No abstract available

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Intraluminal Pulmonary Vein Stenosis in Children: A “New” Lesion

Pulmonary vein stenosis (PVS) is a rare disorder that leads to progressive narrowing of the extrapulmonary veins. PVS has been reported in both children and adults and in its worse iteration leads to pulmonary hypertension, right ventricular failure, and death. Multiple etiologies of PVS have been described in children and adults. This review will focus on intraluminal PVS in children. Intraluminal PVS has an estimated incidence ranging from 0.0017% to 0.03%. It is associated with conditions such as prematurity, bronchopulmonary dysplasia, necrotizing enterocolitis, Smith-Lemli-Opitz syndrome, and Down syndrome. Cardiac catheterization and pulmonary vein angiography are the gold standard for diagnosis and anatomic delineation. Other imaging modalities including magnetic resonance imaging, chest tomography, and transesophageal echocardiography are increasingly being used. Mortality of PVS in children is approximately 50%. Predictors of mortality include involvement of ≥3 pulmonary veins, bilateral pulmonary vein involvement, onset of PVS in infancy, elevated pulmonary artery pressure or systolic pulmonary artery-to-aortic pressure ratio, right ventricular dysfunction, restenosis after surgery, distal/upstream disease, and disease progression to previously uninvolved pulmonary veins. Treatment includes catheter-based pulmonary vein dilations with or without stenting, surgical interventions, medical therapy, and in some instances, lung transplantation. Cardiac catheterization for PVS involves a comprehensive hemodynamic and anatomic assessment of the pulmonary veins as well as therapeutic transcatheter interventions. Several surgical strategies have been used. Sutureless repair is currently most commonly used, but patch venoplasty, endarterectomy, ostial resection, and reimplantation are used in select circumstances as well. Medical therapies such as imatinib mesylate and bevacizumab are increasingly being used in an effort to suppress the myofibroblastic proliferation seen in PVS patients. Lung transplantation has been used as an alternative treatment strategy for end-stage, refractory PVS. Nonetheless, despite the different innovative approaches used, morbidity and mortality remain high. At present, the preferred treatment strategy is frequent reassessment of disease progression to guide use of catheter-based and surgical interventions in conjunction with medical therapy. Accepted for publication October 8, 2018. Funding: None. The authors declare no conflicts of interest. Reprints will not be available from the authors. Address correspondence to Viviane G. Nasr, MD, Department of Anesthesiology, Critical Care and Pain Medicine, Division of Cardiac Anesthesia, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115. Address e-mail to viviane.nasr@childrens.harvard.edu. © 2018 International Anesthesia Research Society

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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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