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1.
Neurology. 2018 Aug 22. pii: 10.1212/WNL.0000000000006245. doi: 10.1212/WNL.0000000000006245. [Epub ahead of print]

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Collaborators (143)

Ryan MM, Kornberg AJ, RodriguezCasero V, Wray A, Jones KJ, North K, Goemans N, Buyse GM, Campbell C, Mah J, Sarnat H, Selby K, Voit T, Doppler V, De Castro D, Chabrol B, Levy N, Halbert C, Pereon Y, Magot A, Perrier J, Mahe JY, Schara U, Lutz S, Busse M, Marina AD, Kirschner J, Stanescu A, Pohl A, RensingZimmerman C, Bertini E, D'Amico A, Kofler A, Carlesi A, Bonetti AM, Santecchia L, Emma F, Bergami G, Mercuri EM, Vasco G, Bianco F, Mazzone ES, De Sanctis R, Alfieri P, Pane M, Messina S, Comi GP, Magri F, Lucchini V, Corti SP, Moggio MG, Sciacco M, Bresolin N, Prelle AC, Magri R, Virgilio R, Lamperti C, Nevo Y, DorWollman T, Vilchez J, Muelas N, Sevilla T, Smeyers P, de la Osa A, Colomer J, Ortez CI, Nascimento A, Febrer A, Medina J, Tulinus M, Thorarinsdottir B, Darin N, Sejersen T, Hovmoller M, Bushby K, Straub V, Guglieri M, Sarkozy A, Willis T, Eagle M, Mayhew A, Muntoni F, Cirak S, Manzur AY, Robb SA, Kinali M, Quinlivan RCM, Smith MR, Pandey R, Wong B, Collins J, Finkel R, Bonnemann C, Yang M, Foley AR, Yum S, Sampson J, Bromberg M, Swoboda K, Day J, Karachunski P, Mathews K, Bonthius D, Laubenthal KS, Darras B, Kang P, Parson J, Barohn R, Dasouki M, Anderson H, Burns J, Dimachkie M, Pasnoor M, Wang Y, Ciafaloni E, Heatwole C, Connolly A, Pestronk A, Al-Lozi M, Lopate G, Golumbek P, Sommerville B, Wang L, Wojcicka-Mitchell A, Godbey A, Harms M, Varadachary A, Iyadurai S, Rojas L, Iannacone S, Khonghatithum C, Sproule D, De Vivo D, Constantinescu A, McDonald C, Han J, Renfroe B, Russman B, Sussman M, BurnsWechsler S, Juel V, Hobson-Webb L, Smith E.

Author information

1
From the Children's National Health System (M.T.), Washington, DC; and PTC Therapeutics Inc. (G.L.E., P.T., J.M., S.W.P.), South Plainfield, NJ. mthangar@childrensnational.org.
2
From the Children's National Health System (M.T.), Washington, DC; and PTC Therapeutics Inc. (G.L.E., P.T., J.M., S.W.P.), South Plainfield, NJ.

Abstract

OBJECTIVE:

To evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).

METHODS:

We investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in a phase 2b clinical trial. Because alternative promoters are found upstream of DMD exons 30, 45, and 63, we correlated d-sf and d-sb to the specific nmDMD mutation location.

RESULTS:

Participants with nm downstream of exon 30, downstream of exon 45, and downstream of exon 63 had significantly lower normalized d-sf scores (p < 0.0001). Participants with nm downstream of exon 45 in addition had significantly lower normalized d-sb score (p < 0.04). There was no significant difference in the normalized d-sb score in participants with mutations upstream or downstream of DMD exon 30 or upstream or downstream of DMD exon 63.

CONCLUSION:

Our data provide evidence that specific cognitive deficits correlate to genotype in individuals with nmDMD, highlighting the critical role of brain-specific dystrophin isoforms in the neurobiological manifestations of this disease.

CLINICALTRIALSGOV IDENTIFIER:

NCT02090959.

2.
Proc Natl Acad Sci U S A. 2018 Aug 20. pii: 201805563. doi: 10.1073/pnas.1805563115. [Epub ahead of print]

Causal inference in coupled human and natural systems.

Author information

1
Carey Business School, Johns Hopkins University, Baltimore, MD 21202.
2
Department of Environmental Health and Engineering, Johns Hopkins University, Baltimore, MD 21205.
3
Department of Environmental Science and Policy, University of California, Davis, CA 95616.
4
Resources for the Future, Washington, DC 20036.
5
Nicholas School of the Environment, Duke University, Durham, NC 27708; marsmith@duke.edu.
6
Department of Economics, Duke University, Durham, NC 27708.

Abstract

Coupled human and natural systems (CHANS) are complex, dynamic, interconnected systems with feedback across social and environmental dimensions. This feedback leads to formidable challenges for causal inference. Two significant challenges involve assumptions about excludability and the absence of interference. These two assumptions have been largely unexplored in the CHANS literature, but when either is violated, causal inferences from observable data are difficult to interpret. To explore their plausibility, structural knowledge of the system is requisite, as is an explicit recognition that most causal variables in CHANS affect a coupled pairing of environmental and human elements. In a large CHANS literature that evaluates marine protected areas, nearly 200 studies attempt to make causal claims, but few address the excludability assumption. To examine the relevance of interference in CHANS, we develop a stylized simulation of a marine CHANS with shocks that can represent policy interventions, ecological disturbances, and technological disasters. Human and capital mobility in CHANS is both a cause of interference, which biases inferences about causal effects, and a moderator of the causal effects themselves. No perfect solutions exist for satisfying excludability and interference assumptions in CHANS. To elucidate causal relationships in CHANS, multiple approaches will be needed for a given causal question, with the aim of identifying sources of bias in each approach and then triangulating on credible inferences. Within CHANS research, and sustainability science more generally, the path to accumulating an evidence base on causal relationships requires skills and knowledge from many disciplines and effective academic-practitioner collaborations.

KEYWORDS:

bioeconomics; marine protected areas; quasiexperiment; social-ecological systems; spatial dynamics

Conflict of interest statement

The authors declare no conflict of interest.

3.
J Neurosurg Anesthesiol. 2018 Oct;30(4):287. doi: 10.1097/ANA.0000000000000532.

The Old and the New: An Enhanced Vision for JNA.

Author information

1
Department of Neuroanesthesia and Neurocritical Care, The National Hospital for Neurosurgery and Neurology, University College London Hospitals, London, UK.
4.
Nat Chem. 2018 Aug 13. doi: 10.1038/s41557-018-0104-x. [Epub ahead of print]

Hydrolytic stability in hemilabile metal-organic frameworks.

Author information

1
EaStCHEM School of Chemistry, University of St Andrews, Purdie Building, St Andrews, UK.
2
Advanced Light Source, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
3
Defence Science and Technology Laboratory (Dstl), Porton Down, Salisbury, Wiltshire, UK.
4
EaStCHEM School of Chemistry, University of St Andrews, Purdie Building, St Andrews, UK. rem1@st-andrews.ac.uk.
5
Department of Physical and Macromolecular Chemistry, Faculty of Sciences, Charles University in Prague, Hlavova , Prague, Czech Republic. rem1@st-andrews.ac.uk.

Abstract

Highly porous metal-organic frameworks (MOFs), which have undergone exciting developments over the past few decades, show promise for a wide range of applications. However, many studies indicate that they suffer from significant stability issues, especially with respect to their interactions with water, which severely limits their practical potential. Here we demonstrate how the presence of 'sacrificial' bonds in the coordination environment of its metal centres (referred to as hemilability) endows a dehydrated copper-based MOF with good hydrolytic stability. On exposure to water, in contrast to the indiscriminate breaking of coordination bonds that typically results in structure degradation, it is non-structural weak interactions between the MOF's copper paddlewheel clusters that are broken and the framework recovers its as-synthesized, hydrated structure. This MOF retained its structural integrity even after contact with water for one year, whereas HKUST-1, a compositionally similar material that lacks these sacrificial bonds, loses its crystallinity in less than a day under the same conditions.

5.
Nat Commun. 2018 Aug 6;9(1):3096. doi: 10.1038/s41467-018-05555-0.

Synthetic microbe communities provide internal reference standards for metagenome sequencing and analysis.

Author information

1
Garvan Institute of Medical Research, Sydney, 2010, NSW, Australia.
2
St. Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, 2052, NSW, Australia.
3
School of Biotechnology and Biomolecular Sciences, UNSW Sydney, Sydney, 2052, NSW, Australia.
4
School of Environmental and Life Sciences, The University of Newcastle, Callaghan, 2308, NSW, Australia.
5
Centre for Marine Bioinnovation UNSW Sydney, Sydney, 2052, NSW, Australia.
6
Instituto de Ecologia, Universidad Nacional Autonoma de Mexico, Mexico City, 04500, Mexico.
7
Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, 4072, Queensland, Australia.
8
School of Biological Sciences, The University of Queensland, Brisbane, 4072, QLD, Australia.
9
Garvan Institute of Medical Research, Sydney, 2010, NSW, Australia. t.mercer@garvan.org.au.
10
St. Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, 2052, NSW, Australia. t.mercer@garvan.org.au.
11
Altius Institute for Biomedical Sciences, Seattle, 98121, WA, USA. t.mercer@garvan.org.au.

Abstract

The complexity of microbial communities, combined with technical biases in next-generation sequencing, pose a challenge to metagenomic analysis. Here, we develop a set of internal DNA standards, termed "sequins" (sequencing spike-ins), that together constitute a synthetic community of artificial microbial genomes. Sequins are added to environmental DNA samples prior to library preparation, and undergo concurrent sequencing with the accompanying sample. We validate the performance of sequins by comparison to mock microbial communities, and demonstrate their use in the analysis of real metagenome samples. We show how sequins can be used to measure fold change differences in the size and structure of accompanying microbial communities, and perform quantitative normalization between samples. We further illustrate how sequins can be used to benchmark and optimize new methods, including nanopore long-read sequencing technology. We provide metagenome sequins, along with associated data sets, protocols, and an accompanying software toolkit, as reference standards to aid in metagenomic studies.

6.
J Nutr Educ Behav. 2018 Sep;50(8):851. doi: 10.1016/j.jneb.2018.06.013. Epub 2018 Aug 2.

Response to "Dramatic Decreases in BMI Percentiles, but Valid Conclusions Can Only Come From Valid Analyses".

Author information

1
Department of Nutrition, University of California, Davis, Davis, CA; Center for Nutrition in Schools, Davis, CA.
2
Oregon State University, Extension Family and Community Health Program, Tillamook, OR.
3
Davis Betty Irene Moore School of Nursing, University of California, Sacramento, CA.
4
Department of Nutrition, American River College, Sacramento, CA.
5
University of California Agriculture and Natural Resources, University of California, Davis, CA; Cooperative Extension, Placer and Nevada Counties, Auburn, CA.
6
University of California Agriculture and Natural Resources, University of California, Davis, CA; UC Sustainable Agriculture Research and Education Program, Agricultural Sustainability Institute, University of California, Davis, Davis, CA.
7
Department of Nutrition, University of California, Davis, Davis, CA; University of California Agriculture and Natural Resources, University of California, Davis, CA; Department of Internal Medicine, University of California, Davis, Davis, CA.
8
Foods for Health Institute, University of California, Davis, Davis, CA.
9
University of California Agriculture and Natural Resources, University of California, Davis, CA; Department of Human Ecology, University of California, Davis, Davis, CA; Department of Population Health and Reproduction, University of California, Davis, Davis, CA.
10
University of California Agriculture and Natural Resources, University of California Cooperative Extension, Merced and Stanislaus Counties, University of California, Modesto, CA.
11
Department of Nutrition, University of California, Davis, Davis, CA; University of California Agriculture and Natural Resources, University of California, Davis, CA.
12
Department of Nutrition, University of California, Davis, Davis, CA; Center for Nutrition in Schools, Davis, CA; University of California Agriculture and Natural Resources, University of California, Davis, CA.

Publication type

Publication type

7.
World J Gastroenterol. 2018 Jul 28;24(28):3101-3111. doi: 10.3748/wjg.v24.i28.3101.

Encapsulating peritoneal sclerosis.

Author information

1
Division of Gastroenterology and Hepatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, United States.
2
Department of Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, United States.

Abstract

Encapsulating peritoneal sclerosis (EPS) is a debilitating condition characterized by a fibrocollagenous membrane encasing the small intestine, resulting in recurrent small bowel obstructions. EPS is most commonly associated with long-term peritoneal dialysis, though medications, peritoneal infection, and systemic inflammatory disorders have been implicated. Many cases remain idiopathic. Diagnosis is often delayed given the rarity of the disorder combined with non-specific symptoms and laboratory findings. Although cross-sectional imaging with computed tomography of the abdomen can be suggestive of the disorder, many patients undergo exploratory laparotomy for diagnosis. Mortality approaches 50% one year after diagnosis. Treatment for EPS involves treating the underlying condition or eliminating possible inciting agents (i.e. peritoneal dialysis, medications, infections) and nutritional support, frequently with total parenteral nutrition. EPS-specific treatment depends on the disease stage. In the inflammatory stage, corticosteroids are the treatment of choice, while in the fibrotic stage, tamoxifen may be beneficial. In practice, distinguishing between stages may be difficult and both may be used. Surgical intervention, consisting of peritonectomy and enterolysis, is time-consuming and high-risk and is reserved for situations in which conservative medical therapy fails in institutions with surgical expertise in this area. Herein we review the available literature of the etiology, pathogenesis, diagnosis, and treatment of this rare, but potentially devastating disease.

KEYWORDS:

Abdominal cocoon; Corticosteroids; Enterolysis; Peritoneal dialysis; Peritoneal sclerosis; Peritonectomy; Sclerosing encapsulating peritonitis; Tamoxifen

Publication type

Publication type

8.
Front Psychol. 2018 Jun 14;9:974. doi: 10.3389/fpsyg.2018.00974. eCollection 2018.

Development and Validation of Two Short Forms of the Managing the Emotions of Others (MEOS) Scale.

Author information

1
Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom.
2
Department of Psychology, University of Western Ontario, London, ON, Canada.

Abstract

The 58-item MEOS assesses managing the emotions of others, a component of trait emotional intelligence (EI). Managing another person's emotions can be used with the intention of helping the target but also in a strategically manipulative manner; the subscales of the MEOS cover both these aspects of emotion management. In order to allow researchers to access shorter versions of the MEOS for use in studies where administering the full-length scale is not feasible, two short forms of the MEOS with six (MEOS-SF) and four (MEOS-VSF) items per sub-scale were developed and validated. Study 1 used factor analysis of pre-existing MEOS item data to select items for the short forms and also compared the bivariate correlations of the MEOS, MEOS-SF and MEOS-VSF with personality and global trait EI. Study 2 examined the MEOS-SF and MEOS-VSF in two new samples (N = 394/226). The results from both studies showed that the short forms had good psychometric properties and associations similar to those of the full-length MEOS with personality, global trait EI, and other measures. The MEOS-SF and MEOS-VSF are hence suitable for use in contexts where a brief assessment of the full range of the domain of managing the emotions of others is required. The availability of short subscales assessing the manipulative facets of the MEOS is especially relevant to the emerging area of "dark side" trait EI research.

KEYWORDS:

MEOS scale; emotional intelligence; interpersonal emotional management; short form; “dark side” of EI

9.
Surgery. 2018 Sep;164(3):559-560. doi: 10.1016/j.surg.2018.05.005. Epub 2018 Jun 19.

Is task sharing preferred to task shifting in the provision of safe surgical care?

Author information

1
Chris Hani Baragwanath Academic hospital, General Surgery 52-9th Street, Park hurst Johannesburg, Gauteng 2193, South Africa. Electronic address: Martin.smith@wits.ac.za.
10.
Adv Mater. 2018 Sep;30(37):e1704679. doi: 10.1002/adma.201704679. Epub 2018 Jun 19.

Adsorption and Detection of Hazardous Trace Gases by Metal-Organic Frameworks.

Author information

1
Fraunhofer Institute for Material and Beam Technology IWS, Winterbergstr. 28, 01277, Dresden, Germany.
2
Department of Inorganic Chemistry I, Dresden University of Technology, Bergstr. 66, 01069, Dresden, Germany.
3
Defence Science & Technology Laboratory, Porton Down, Salisbury, SP4 0JQ, UK.

Abstract

The quest for advanced designer adsorbents for air filtration and monitoring hazardous trace gases has recently been more and more driven by the need to ensure clean air in indoor, outdoor, and industrial environments. How to increase safety with regard to personal protection in the event of hazardous gas exposure is a critical question for an ever-growing population spending most of their lifetime indoors, but is also crucial for the chemical industry in order to protect future generations of employees from potential hazards. Metal-organic frameworks (MOFs) are already quite advanced and promising in terms of capacity and specific affinity to overcome limitations of current adsorbent materials for trace and toxic gas adsorption. Due to their advantageous features (e.g., high specific surface area, catalytic activity, tailorable pore sizes, structural diversity, and range of chemical and physical properties), MOFs offer a high potential as adsorbents for air filtration and monitoring of hazardous trace gases. Three advanced topics are considered here, in applying MOFs for selective adsorption: (i) toxic gas adsorption toward filtration for respiratory protection as well as indoor and cabin air, (ii) enrichment of hazardous gases using MOFs, and (iii) MOFs as sensors for toxic trace gases and explosives.

KEYWORDS:

adsorption; air purification; metal-organic frameworks; sensors; trace gas enrichment

Publication type

Publication type

11.
J Neurosurg Anesthesiol. 2018 Jul;30(3):199. doi: 10.1097/ANA.0000000000000509.

JNA Editorial - July 2018.

Author information

1
Department of Neuroanesthesia and Neurocritical Care, The National Hospital for Neurosurgery and Neurology, University College London Hospitals, London, UK.
12.
J Am Coll Radiol. 2018 May;15(5S):S56-S68. doi: 10.1016/j.jacr.2018.03.014.

ACR Appropriateness Criteria® Colorectal Cancer Screening.

Author information

1
Principal Author, Emory University, Atlanta, Georgia. Electronic address: courtney.coursey@emoryhealthcare.org.
2
Co-author and Panel Chair, University of Wisconsin Hospital & Clinics, Madison, Wisconsin.
3
Global Advanced Imaging, PLLC, Little Rock, Arizona.
4
University of South Alabama, Mobile, Alabama; American Gastroenterological Association.
5
Newton-Wellesley Hospital, Newton, Massachusetts.
6
University of Texas MD Anderson Cancer Center, Houston, Texas; American College of Surgeons.
7
Mallinckrodt Institute of Radiology, Saint Louis, Missouri.
8
Virginia Tech Carilion School of Medicine, Roanoke, Virginia.
9
Massachusetts General Hospital, Boston, Massachusetts.
10
University of Virginia Health System, Charlottesville, Virginia.
11
Medstar Georgetown University Hospital, Washington, District of Columbia.
12
Duke University Medical Center, Durham, North Carolina.
13
Penn State Hershey Radiology, Hershey, Pennsylvania.
14
Lahey Hospital and Medical Center, Burlington, Massachusetts.
15
Beth Israel Deaconess Medical Center, Boston, Massachusetts.
16
University of California, San Francisco, San Francisco, California.
17
Specialty Chair, Virginia Commonwealth University Medical Center, Richmond, Virginia.

Abstract

This review summarizes the relevant literature regarding colorectal screening with imaging. For individuals at average or moderate risk for colorectal cancer, CT colonography is usually appropriate for colorectal cancer screening. After positive results on a fecal occult blood test or immunohistochemical test, CT colonography is usually appropriate for colorectal cancer detection. For individuals at high risk for colorectal cancer (eg, hereditary nonpolyposis colorectal cancer, ulcerative colitis, or Crohn colitis), optical colonoscopy is preferred because of its ability to obtain biopsies to detect dysplasia. After incomplete colonoscopy, CT colonography is usually appropriate for colorectal cancer screening for individuals at average, moderate, or high risk. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.

KEYWORDS:

AUC; Appropriate Use Criteria; Appropriateness Criteria; Barium enema; CT colonography; Colorectal cancer; Colorectal cancer screening; MR colonography

13.
Org Biomol Chem. 2018 May 15;16(19):3648-3654. doi: 10.1039/c8ob00491a.

Push-pull quinoidal porphyrins.

Author information

1
Department of Chemistry, University of Oxford, Chemistry Research Laboratory, Oxford OX1 3TA, UK. harry.anderson@chem.ox.ac.uk.

Abstract

A family of push-pull quinoidal porphyrin monomers has been prepared from a meso-formyl porphyrin by bromination, thioacetal formation, palladium-catalyzed coupling with malononitrile and oxidation with DDQ. Attempts at extending this synthesis to a push-pull quinoidal/cumulenic porphyrin dimer were not successful. The crystal structures of the quinoidal porphyrins indicate that there is no significant contribution from singlet biradical or zwitterionic resonance forms. The crystal structure of an ethyne-linked porphyrin dimer shows that the torsion angle between the porphyrin units is only about 3°, in keeping with crystallographic results on related compounds, but contrasting with the torsion angle of about 35° predicted by computational studies. The free-base quinoidal porphyrin monomers form tightly π-stacked layer structures, despite their curved geometries and bulky aryl substituents.

14.
Chem Sci. 2017 Nov 16;9(3):629-633. doi: 10.1039/c7sc03891g. eCollection 2018 Jan 21.

Direct sulfonylation of anilines mediated by visible light.

Author information

1
Department of Chemistry , University of Oxford , Chemical Research Laboratory , Mansfield Road , Oxford , OX1 3TA , UK . Email: darren.dixon@chem.ox.ac.uk ; Email: robert.paton@chem.ox.ac.uk ; Email: christopher.schofield@chem.ox.ac.uk ; Email: martin.smith@chem.ox.ac.uk ; Email: michael.willis@chem.ox.ac.uk.
2
Global Chemistry , UCB New Medicines , UCB BioPharma sprl , 1420 Braine-L'Alleud , Belgium.
3
Global Chemistry , UCB , 261 Bath Road, Slough , SL1 3WE , UK.
4
Bohicket Pharma Consulting LLC , 2556 Seabrook Island Road , Seabrook Island , South Carolina 29455 , USA.

Abstract

Sulfones feature prominently in biologically active molecules and are key functional groups for organic synthesis. We report a mild, photoredox-catalyzed reaction for sulfonylation of aniline derivatives with sulfinate salts, and demonstrate the utility of the method by the late-stage functionalization of drugs. Key features of the method are the straightforward generation of sulfonyl radicals from bench-stable sulfinate salts and the use of simple aniline derivatives as convenient readily available coupling partners.

15.
J Nutr Educ Behav. 2018 Mar;50(3):326-327. doi: 10.1016/j.jneb.2018.01.011.

Response to "A Comment on Scherr et al 'A Multicomponent, School-Based Intervention, the Shaping Healthy Choices Program, Improves Nutrition-Related Outcomes'".

Author information

1
Department of Nutrition, University of California, Davis, Davis, CA; Center for Nutrition in Schools, Davis, CA.
2
Extension Family and Community Health Program, Oregon State University, Tillamook, OR.
3
Davis Betty Irene Moore School of Nursing, University of California, Sacramento, CA.
4
Department of Nutrition, American River College, Sacramento, CA.
5
University of California Cooperative Extension, Placer and Nevada Counties, University of California Agriculture and Natural Resources, Auburn, CA.
6
UC Sustainable Agriculture Research and Education Program, Agricultural Sustainability Institute, University of California, Davis, Davis, CA; University of California Agriculture and Natural Resources, Davis, CA.
7
Department of Nutrition, University of California, Davis, Davis, CA; Department of Internal Medicine, University of California, Davis, CA; University of California Agriculture and Natural Resources, Davis, CA.
8
Department of Human Ecology, University of California, Davis, CA; University of California Agriculture and Natural Resources, Davis, CA.
9
Foods for Health Institute, University of California, Davis, Davis, CA.
10
University of California Agriculture and Natural Resources, Davis, CA; Department of Human Ecology, University of California, Davis, Davis, CA; Department of Population Health and Reproduction, University of California, Davis, Davis, CA.
11
University of California Cooperative Extension, Merced and Stanislaus Counties, University of California Agriculture and Natural Resources, Modesto, CA.
12
Department of Nutrition, University of California, Davis, Davis, CA; University of California Agriculture and Natural Resources, Davis, CA.
13
Family Resiliency Center, University of Illinois, Urbana-Champaign St, Urbana, IL.
14
Davis Betty Irene Moore School of Nursing, University of California, Sacramento, CA; Department of Nutrition, University of California, Davis, CA; Center for Nutrition in Schools, Davis, CA.
15
Department of Nutrition, University of California, Davis, Davis, CA; Center for Nutrition in Schools, Davis, CA; University of California Agriculture and Natural Resources, Davis, CA.

Publication type

Publication type

16.
Seizure. 2018 Apr;57:5-7. doi: 10.1016/j.seizure.2018.02.014. Epub 2018 Mar 2.

Ketogenic diet therapy in infants less than two years of age for medically refractory epilepsy.

Author information

1
Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, United Kingdom.
2
Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, United Kingdom. Electronic address: ruth.williams@gstt.nhs.uk.

Abstract

PURPOSE:

The Ketogenic Diet (KD) is a well-established treatment for epilepsy in children and adults. We describe our 10-year KD experience in children less than two years of age diagnosed with medically refractory epilepsy.

METHODS:

We conducted a retrospective case-note review of infants managed with KD at our centre between 2006 and 2016.

RESULTS:

Twenty-nine children between 2½ weeks and 23 months of age were identified, with mixed epilepsy aetiologies. Ninety-three percent had daily seizures and 82% were on two or more anti-epilepsy drugs (AEDs) at the time of KD commencement. KD was continued for more than four weeks in 86%. Based on a combination of parental reports, hospital observations and seizure diaries, two of 29 became seizure free, seven demonstrated >50% seizure reduction, and eight showed a decrease in seizure intensity/frequency. No adverse effects were observed in 45% patients, and dietary therapy was stopped in only two because of poor tolerability.

CONCLUSION:

We conclude that KD can be utilised and is generally well tolerated in infants with severe epilepsies. In addition, our experience suggests efficacy with improved seizure frequency/severity in around 50% without adverse effects on developmental outcome.

KEYWORDS:

Infants; Ketogenic; Refractory epilepsy

PMID:
29524777
DOI:
10.1016/j.seizure.2018.02.014
[Indexed for MEDLINE]
Icon for Elsevier Science
17.
J Neurosurg Anesthesiol. 2018 Apr;30(2):105. doi: 10.1097/ANA.0000000000000497.

Editorial.

Author information

1
Department of Neuroanesthesia and Neurocritical Care, The National Hospital for Neurosurgery and Neurology, University College London Hospitals, London, UK (e-mail: martin.smith@ucl.ac.uk).
18.
Intensive Care Med. 2018 Apr;44(4):449-463. doi: 10.1007/s00134-018-5086-z. Epub 2018 Mar 2.

Fluid therapy in neurointensive care patients: ESICM consensus and clinical practice recommendations.

Author information

1
Department of Medical-Surgical Intensive Care Medicine, Faculty of Biology and Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, Rue du Bugnon 46, BH 08.623, 1011, Lausanne, Switzerland. mauro.oddo@chuv.ch.
2
Anesthesia and Intensive Care Operative Unit, S. Martino Hospital, Belluno, Italy.
3
Neurological Intensive Care Unit, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
4
Department of Intensive Care Medicine, University Hospitals Leuven, Louvain, Belgium.
5
Neuroscience Intensive Care Unit, Department of Anesthesia and Critical Care, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
6
Department of Pathophysiology and Transplants, University of Milan, Milan, Italy.
7
Department of Anesthesia and Critical Care, CHU Grenoble Alpes, 38000, Grenoble, France.
8
Department of Anaesthesia and Intensive Care, St. George's University Hospital, London, UK.
9
Department of Anaesthesia and Intensive Care, Toulouse University Hospital, University Toulouse 3-Paul Sabatier, 31059, Toulouse, France.
10
Department of Intensive Care Medicine, St James's University Hospital, James's St, Ushers, P.O. Box 580, Dublin 8, Ireland.
11
Service de Réanimation Médico-chirurgicale, Hôpital Pasteur 2, Université Côte d'Azur, CHU de Nice, 06000, Nice, France.
12
Unité CNRS 7275, Sophia-Antipolis, France.
13
Department of Intensive Care, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.
14
Neurosciences Critical Care, Departments of Anesthesiology and Critical Care Medicine, Neurology, and Neurosurgery, Johns Hopkins University, Baltimore, MD, USA.
15
Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
16
Service de Réanimation Polyvalente, Hôpital Pasteur 2, CHU de Nice, 30 Voie Romaine, CS 51069, 06001, Nice Cedex 1, France.
17
Division of Anaesthesia, University of Cambridge, Addenbrooke's Hospital, Box 93, Hills Road, Cambridge, Cambridgeshire, CB2 2QQ, UK.
18
Department of Intensive Care 4131, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
19
Department of Neuroanesthesia and Neurocritical Care, The National Hospital for Neurosurgery and Neurology, University College London Hospitals, London, UK.
20
Hospital Nacional Professor Alejandro Posadas, Buenos Aires, Argentina.
21
Department of Neurosciences, IRCCS-Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy.
22
School of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy.
23
Neurointensive Care, San Gerardo Hospital, ASST-Monza, 20900, Monza, Italy.

Abstract

OBJECTIVE:

To report the ESICM consensus and clinical practice recommendations on fluid therapy in neurointensive care patients.

DESIGN:

A consensus committee comprising 22 international experts met in October 2016 during ESICM LIVES2016. Teleconferences and electronic-based discussions between the members of the committee subsequently served to discuss and develop the consensus process.

METHODS:

Population, intervention, comparison, and outcomes (PICO) questions were reviewed and updated as needed, and evidence profiles generated. The consensus focused on three main topics: (1) general fluid resuscitation and maintenance in neurointensive care patients, (2) hyperosmolar fluids for intracranial pressure control, (3) fluid management in delayed cerebral ischemia after subarachnoid haemorrhage. After an extensive literature search, the principles of the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system were applied to assess the quality of evidence (from high to very low), to formulate treatment recommendations as strong or weak, and to issue best practice statements when applicable. A modified Delphi process based on the integration of evidence provided by the literature and expert opinions-using a sequential approach to avoid biases and misinterpretations-was used to generate the final consensus statement.

RESULTS:

The final consensus comprises a total of 32 statements, including 13 strong recommendations and 17 weak recommendations. No recommendations were provided for two statements.

CONCLUSIONS:

We present a consensus statement and clinical practice recommendations on fluid therapy for neurointensive care patients.

KEYWORDS:

Evidence‐based medicine; Fluid therapy; Guidelines; Hypertonic; Intracerebral haemorrhage; Mannitol; Neurointensive care; Stroke; Subarachnoid haemorrhage; Traumatic brain injury

19.
Genome Biol. 2017 Dec 28;18(1):244. doi: 10.1186/s13059-017-1371-3.

DotAligner: identification and clustering of RNA structure motifs.

Author information

1
RNA Biology and Plasticity Group, Garvan Institute of Medical Research, 384 Victoria Street, Sydney, NSW 2010, Australia. m.smith@garvan.org.au.
2
St Vincent's Clinical School, Faculty of Medicine, UNSW Australia, Sydney, NSW 2010, Australia. m.smith@garvan.org.au.
3
Center for non-coding RNA in Technology and Health (RTH), University of Copenhagen, Groennegaardsvej 3, Frederiksberg, 1870, Denmark.
4
Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, DK-1870, Frederiksberg, Denmark.
5
RNA Biology and Plasticity Group, Garvan Institute of Medical Research, 384 Victoria Street, Sydney, NSW 2010, Australia.
6
St Vincent's Clinical School, Faculty of Medicine, UNSW Australia, Sydney, NSW 2010, Australia.

Abstract

The diversity of processed transcripts in eukaryotic genomes poses a challenge for the classification of their biological functions. Sparse sequence conservation in non-coding sequences and the unreliable nature of RNA structure predictions further exacerbate this conundrum. Here, we describe a computational method, DotAligner, for the unsupervised discovery and classification of homologous RNA structure motifs from a set of sequences of interest. Our approach outperforms comparable algorithms at clustering known RNA structure families, both in speed and accuracy. It identifies clusters of known and novel structure motifs from ENCODE immunoprecipitation data for 44 RNA-binding proteins.

KEYWORDS:

Functional genome annotation; Functions of RNA structures; Machine learning; RNA structure clustering; RNA–protein interactions; Regulation by non-coding RNAs

PMID:
29284541
PMCID:
PMC5747123
DOI:
10.1186/s13059-017-1371-3
[Indexed for MEDLINE]
Free PMC Article
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20.
J Radiol Prot. 2018 Mar;38(1):299-309. doi: 10.1088/1361-6498/aaa3c8. Epub 2017 Dec 22.

A Monte Carlo simulation study for the gamma-ray/neutron dual-particle imager using rotational modulation collimator (RMC).

Author information

1
Program in Biomedical Radiation Sciences, Department of Transdisciplinary Studies, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, Korea. Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.

Abstract

The aim of this work is to develop a gamma-ray/neutron dual-particle imager, based on rotational modulation collimators (RMCs) and pulse shape discrimination (PSD)-capable scintillators, for possible applications for radioactivity monitoring as well as nuclear security and safeguards. A Monte Carlo simulation study was performed to design an RMC system for the dual-particle imaging, and modulation patterns were obtained for gamma-ray and neutron sources in various configurations. We applied an image reconstruction algorithm utilizing the maximum-likelihood expectation-maximization method based on the analytical modeling of source-detector configurations, to the Monte Carlo simulation results. Both gamma-ray and neutron source distributions were reconstructed and evaluated in terms of signal-to-noise ratio, showing the viability of developing an RMC-based gamma-ray/neutron dual-particle imager using PSD-capable scintillators.

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