bluuebunny/crossref_metadata_2025_split huggingface dataset:
Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation
Authors: Bogdanova‐Mihaylova Petya , Alexander Michael D. , Murphy Raymond P. J. , Murphy Sinéad M. 
Published: May 2017

AbstractWaardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. Here we report a 32‐year‐old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity, and intermediate conduction velocity length‐dependent sensorimotor neuropathy. This case highlights that the presence of other non‐neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes.
DO CRISES INDUCE REFORM? A CRITICAL REVIEW OF CONCEPTION, METHODOLOGY AND EMPIRICAL EVIDENCE OF THE ‘CRISIS HYPOTHESIS’
Authors: Mahmalat Mounir , Curran Declan 
Published: May 2017

AbstractThe notion that economic crises induce the adoption of reform ranks among the most widely accepted concepts in the political economics literature. However, the underlying mechanism of the so‐called ‘crisis hypothesis’ has yet to be fully understood. This paper provides a comprehensive survey of the relevant empirical evidence to date, and scrutinizes the operationalization of the hypothesis’ key concepts: crisis, reform and the political mediation of reform during crises. We argue that the social perception of both crises and the subsequent cost of reform requires consideration of how these concepts are operationalized. As a product of the broader economic and institutional environment, social perceptions largely determine the manner in which the political mediation of reform during crises works. Present‐day methodological approaches fail to adequately reflect social perceptions and consequently compromise the determination of what constitutes both crisis and the cost of reform in the context of the crisis hypothesis. Most notably, the identification of crises by fixed thresholds constructed around macroeconomic variables impedes the interpretation of the hypothesis’ underlying mechanism. A fuller treatment of social perception within the operationalization of the hypothesis’ key concepts can enhance our understanding of how economic crises influence political dynamics in bringing about reform.
The comparative safety of abciximab versus eptifibatide in patients on dialysis undergoing percutaneous coronary intervention: Insights from the Blue Cross Blue Shield of Michigan Cardiovascular Consortium (BMC2)
Authors: Sukul Devraj , Seth Milan , Schreiber Theodore , Hanzel George , Khandelwal Akshay , Cannon Louis A. , Lalonde Thomas A. , Gurm Hitinder S. 
Published: May 2017

ObjectivesWe sought to evaluate the patterns of use and outcomes associated with eptifibatide and abciximab administration among dialysis patients who underwent percutaneous coronary intervention (PCI).BackgroundContraindicated medications are frequently administered to dialysis patients undergoing PCI often resulting in adverse outcomes. Eptifibatide is a glycoprotein IIb/IIIa inhibitor that is often used during PCI and is contraindicated in dialysis.MethodsWe included dialysis patients who underwent PCI from January 2010 to September 2015 at 47 hospitals in Michigan. We compared outcomes between patients who received eptifibatide compared with abciximab. Both groups required concurrent treatment with unfractionated heparin only. In‐hospital outcomes included repeat PCI, bleeding, major bleeding, need for transfusion, and death. Optimal full matching was used to adjust for non‐random drug administration.ResultsOf 177 963 patients who underwent PCI, 4303 (2.4%) were on dialysis. Among those, 384 (8.9%) received eptifibatide and 100 (2.3%) received abciximab. Prior to matching, patients who received eptifibatide had higher pre‐procedural hemoglobin levels (11.3 g/dL vs. 10.7 g/dL; P < 0.001) and less frequently had a history of myocardial infarction (36.5% vs. 52.0%; P = 0.005). After matching, there were no significant differences in in‐hospital outcomes between eptifibatide and abciximab including transfusion (aOR: 1.15; 95%CI: 0.55‐2.40; P = 0.70), bleeding (1.47; 0.64‐3.40; P = 0.36), major bleeding (4.68; 0.42‐52.3; P = 0.21), repeat PCI (0.38; 0.03‐4.23; P = 0.43), and death (1.53; 0.2‐9.05; P = 0.64).ConclusionsDespite being contraindicated in dialysis, eptifibatide was used approximately 3.5 times more frequently than abciximab among dialysis patients undergoing PCI but was associated with similar in‐hospital outcomes.
Reward Seeking and Cognitive Control: Using the Dual Systems Model to Predict Adolescent Sexual Behavior
Authors: Wasserman Alexander M. , Crockett Lisa J. , Hoffman Lesa 
Published: May 2017

Research has provided support for the dual systems model of adolescent risk taking, but the model has rarely been applied to sexual behavior. Using data from the NICHD SECCYD (N = 958; Mage = 15.07, SD = 0.18), this study examined the effects of cognitive control, reward seeking, and their interaction on sexual behavior. Results of structural equation models revealed that performance on behavioral tasks assessing reward seeking and cognitive control uniquely predicted sexual intercourse, but the interaction between them was not significant. For oral sex, only cognitive control was a significant predictor. The findings provide additional support for the dual systems model, and suggest that reward seeking and cognitive control make unique contributions to adolescent sexual behavior.
Incidence and risk factors for non‐alcoholic fatty liver disease: A 7‐year follow‐up study among urban, adult Sri Lankans
Authors: Niriella Madunil A. , Pathmeswaran Arunasalam , De Silva Shamila T. , Kasturiratna Anuradhani , Perera Ruwan , Subasinghe Chamila E. , Kodisinghe Kuleesha , Piyaratna Chathura , Rishikesawan Vithiya , Dassanayaka Anuradha S. , De Silva Arjuna P. , Wickramasinghe Rajitha , Takeuchi Fumihiko , Kato Norihiro , de Silva Hithanadura J. 
Published: May 2017

AbstractBackgroundThis study investigated incidence and risk factors for NAFLD among an adult cohort with 7‐year follow‐up.MethodsThe study population (age‐stratified random sampling, Ragama MOH area) was screened initially in 2007 (aged 35‐64 years) and re‐evaluated in 2014 (aged 42‐71 years). On both occasions assessed by structured interview, anthropometric measurements, liver ultrasound, biochemical and serological tests. NAFLD was diagnosed on ultrasound criteria, safe alcohol consumption and absence of hepatitis B/C markers. Non‐NAFLD controls did not have any ultrasound criteria for NAFLD. An updated case–control genetic association study for 10 selected genetic variants and NAFLD was also performed.ResultsOut of 2985 of the original cohort, 2148 (72.0%) attended follow‐up (1238 [57.6%] women; mean‐age 59.2 [SD‐7.6] years) in 2014, when 1320 (61.5%) were deemed NAFLD subjects. Out of 778 who initially did not have NAFLD and were not heavy drinkers throughout follow‐up, 338 (43.4%) (221 [65.4%] women, mean‐age 57.8 [SD‐8.0] years) had developed NAFLD after 7‐years (annual incidence‐6.2%). Central obesity (OR=3.82 [95%‐CI 2.09‐6.99]), waist increase >5% (OR=2.46 [95%‐CI 1.20‐5.05]) overweight (OR=3.26 [95%‐CI 1.90‐5.60]), weight gain 5%‐10% (OR=5.70 [95%‐CI 2.61‐12.47]), weight gain >10% (OR=16.94 [95%‐CI 6.88‐41.73]), raised plasma triglycerides (OR=1.96 [95%‐CI 1.16‐3.29]) and diabetes (OR=2.14 [95%‐CI 1.13‐4.06]), independently predicted the development of incident NAFLD in multivariate analysis. The updated genetic association study (1362‐cases, 392‐controls) showed replicated association (P=.045, 1‐tailed) with NAFLD at a candidate locus: PNPLA3 (rs738409).ConclusionsIn this community cohort study, the annual incidence of NAFLD was 6.2%. Incident NAFLD was associated with general and central obesity, raised triglycerides and diabetes, and showed a tendency of association with PNPLA3 gene polymorphisms.
Electronic‐based lifestyle interventions in overweight or obese perinatal women: a systematic review and meta‐analysis
Authors: Lau Y. , Klainin‐Yobas P. , Htun T. P. , Wong S. N. , Tan K. L. , Ho‐Lim S. T. , Chi C. , Tsai C. , Ong K. W. , Shorey S. , Tam W. S. W. 
Published: May 2017

SummaryElectronic‐based (e‐based) lifestyle interventions provide potential and cost‐effective delivery of remote interventions for overweight and obese perinatal women. To date, no meta‐analysis has reported the efficacy of maternal and neonatal outcomes. Seven electronic databases were searched from inception up to July 13, 2016, including the Cumulative Index to Nursing and Allied Health Literature, Cochrane Library, EMBASE, ProQuest Dissertations and Theses, PsycINFO, PubMed and Scopus. Among the 1,145 studies retrieved, 14 randomized controlled trials were selected among 17 publications. The Cochrane risk of bias tool was used to appraise the quality assessment. The meta‐analyses demonstrated a significant result for limiting gestational weight gain, losing postnatal weight in 1–2 months, increasing self‐reported moderate and vigorous physical activity and reducing caloric intake using diet‐related software. Our review shows that an e‐based lifestyle intervention is an acceptable approach. The findings reveal the variability in intervention methods and provide limited conclusive evidence. Thus, future studies should examine the efficacy and essential components as well as the various approaches using optimal portions of in‐person and phone sessions. Further evaluations comparing the effectiveness of different e‐based lifestyle intervention approaches toward activity‐related and diet‐related outcomes are necessary.
Fiscal regime design elements and relative regime ranking for concessions
Authors: Rao Amit Singh 
Published: May 2017

AbstractThe technological breakthrough in the oil and gas sector has made it possible for the companies to diversify their investment portfolio but it is quite challenging to select a balanced and stable regime to mitigate the country risks associated with investments especially in a volatile price environment. The project economics calculation to evaluate fiscal regime sometimes proves out to be a difficult task for corporate planners to model and make conclusions for investments. It is also a challenge for the government to maximize the revenue from their resources and for the contractor to choose a suitable investment destination. There is a scope in current fiscal analysis literature for a single indicator which can contribute towards the overall comparison of fiscal regimes. This paper will evaluate the design aspects of fiscal terms of a concession regime and will address the generic concern of fiscal regime evaluation through a Relative Fiscal Ranking (The Relative Fiscal Ranking is the evaluation of two or more fiscal regimes benchmarked against the most attractive fiscal regime with desired fiscal terms set/calculated by the investors.) methodology applied on a set of concession regimes. This method will directly establish a unique functionality between the fiscal terms and their attractiveness which will ultimately expose the relative risk associated with fiscal regimes when they are compared against each other. It generates key insights for investment decisions and can help the policy makers and corporate planners to take informed decisions.
Diagnosis and Management of Acquired Cystic Kidney Disease and Renal Tumors in ESRD Patients
Authors: Rahbari‐Oskoui Frederic , O'Neill William Charles 
Published: May 2017

AbstractThe incidence of renal malignancies is markedly increased in end‐stage renal disease and appears to be related to the development of acquired cystic kidney disease. Identification and evaluation of simple cysts, complex cysts, and solid masses in these patients rely on imaging studies, including ultrasonography, computed tomography, and magnetic resonance imaging, each of which has advantages and disadvantages. While there are no published data to support screening of ESRD patients, this seems appropriate in at least some patients, based on patient characteristics and the presence or absence of acquired cystic kidney disease. The optimal frequency and modality remain to be determined.
Preventing recurrent ankle sprains: Is the use of an App more cost‐effective than a printed Booklet? Results of a RCT
Authors: Van Reijen M. , Vriend I. , van Mechelen W. , Verhagen E. A. 
Published: May 2017

Recurrent ankle sprains can be reduced by following a neuromuscular training (NMT) program via a printed Booklet or a mobile application. Regarding the high incidence of ankle sprains, cost‐effectiveness regarding implementation can have a large effect on total societal costs. In this economic analysis, we evaluated whether the method of implementing a proven effective NMT program using an App or a Booklet resulted in differences in injury incidence rates leading to costs and hence to differences in cost‐effectiveness. In total, 220 athletes with a previous ankle sprain were recruited for this randomized controlled trial with a follow‐up of 12 months. Half of the athletes used the freely available “Strengthen your ankle” App and the other half received a printed Booklet. After the 8‐week program, athletes were questioned monthly on their recurrent injuries. Primary outcome measures were incidence density of ankle injury and incremental cost‐effectiveness ratio (ICER). During follow‐up, 31 athletes suffered from a recurrent ankle sprain that led to costs resulting in a hazard ratio of 1.13 (95% CI: 0.56‐2.27). The incremental cost‐effectiveness ratio of the App group in comparison with the Booklet group was €361.52. The CE plane shows that there was neither a difference in effects nor in costs between both intervention methods. This study showed that the method of implementing the NMT program using an App or a Booklet led to similar cost‐effectiveness ratios and the same occurrence of recurrent injuries leading to costs. Both the App and the Booklet can be used to prevent recurrent ankle injuries, showing no differences in (cost‐) effectiveness at 12‐month follow‐up.
An error budget for digital soil mapping of cation exchange capacity using proximally sensed electromagnetic induction and remotely sensed γ‐ray spectrometer data
Authors: Huang J. , Bishop T. F. A. , Triantafilis J. 
Published: May 2017

AbstractThe cation exchange capacity (CEC) of soil is widely used for agricultural assessment as a measure of fertility and an indicator of structural stability; however, its measurement is time‐consuming. Although geostatistical methods have been used, a large number of samples must be collected. Using pedometric methods and incorporating easy‐to‐measure ancillary data into models have improved the efficiency of spatial prediction of soil CEC. However, mapping uncertainty has not been evaluated. In this study, we use an error budget procedure to quantify the relative contributions that model, input and covariate error make to prediction error of a digital map of CEC using gamma‐ray (γ‐ray) spectrometry and apparent electrical conductivity (ECa) data. The error budget uses empirical best linear unbiased prediction (E‐BLUP) and conditional simulation to produce numerous realizations of the data and their underlying errors. Linear mixed models (LMMs) estimated by residual maximum likelihood (REML) are used to create the prediction models. The combined error of model [5.07 cmol(+)/kg] and input error [12.88 cmol(+)/kg] is ~12.93 cmol(+)/kg, which is twice as large as the standard deviation of CEC [6.8 cmol(+)/kg]. The individual covariate errors caused by the γ‐ray [9.64 cmol(+)/kg] and EM error [8.55 cmol(+)/kg] were large. Preprocessing techniques to improve the quality of the γ‐ray data could be considered, whereas the EM error could be reduced by the use of a smaller sampling interval in particular near the edges of the study area and at pedoderm boundaries.
A Population Pharmacokinetic Model of Gentamicin in Pediatric Oncology Patients To Facilitate Personalized Dosing
Authors: Llanos-Paez C. C. , Staatz C. E. , Lawson R. , Hennig S. 
Published: May 2017

ABSTRACTTo ensure the safe and effective dosing of gentamicin in children, therapeutic drug monitoring (TDM) is recommended. TDM utilizing Bayesian forecasting software is recommended but is unavailable, as no population model that describes the pharmacokinetics of gentamicin in pediatric oncology patients exists. This study aimed to develop and externally evaluate a population pharmacokinetic model of gentamicin to support personalized dosing in pediatric oncology patients. A nonlinear mixed-effect population pharmacokinetic model was developed from retrospective data. Data were collected from 423 patients for model building and a further 52 patients for external evaluation. A two-compartment model with first-order elimination best described the gentamicin disposition. The final model included renal function (described by fat-free mass and postmenstrual age) and the serum creatinine concentration as covariates influencing gentamicin clearance (CL). Final parameter estimates were as follow CL, 5.77 liters/h/70 kg; central volume of distribution, 21.6 liters/70 kg; peripheral volume of distribution, 13.8 liters/70 kg; and intercompartmental clearance, 0.62 liter/h/70 kg. External evaluation suggested that current models developed in other pediatric cohorts may not be suitable for use in pediatric oncology patients, as they showed a tendency to overpredict the observations in this population. The final model developed in this study displayed good predictive performance during external evaluation (root mean square error, 46.0%; mean relative prediction error, −3.40%) and may therefore be useful for the personalization of gentamicin dosing in this cohort. Further investigations should focus on evaluating the clinical application of this model.
Plasmodium falciparum and Plasmodium vivax Demonstrate Contrasting Chloroquine Resistance Reversal Phenotypes
Authors: Wirjanata Grennady , Handayuni Irene , Prayoga Pak , Leonardo Leo , Apriyanti Dwi , Trianty Leily , Wandosa Ruland , Gobay Basbak , Kenangalem Enny , Poespoprodjo Jeanne Rini , Noviyanti Rintis , Kyle Dennis E. , Cheng Qin , Price Ric N. , Marfurt Jutta 
Published: May 2017

ABSTRACT

High-grade chloroquine (CQ) resistance has emerged in both
Plasmodium falciparum
and
P. vivax
. The aim of the present study was to investigate the phenotypic differences of CQ resistance in both of these species and the ability of known CQ resistance reversal agents (CQRRAs) to alter CQ susceptibility. Between April 2015 and April 2016, the potential of verapamil (VP), mibefradil (MF), L703,606 (L7), and primaquine (PQ) to reverse CQ resistance was assessed in 46
P. falciparum
and 34
P. vivax
clinical isolates in Papua, Indonesia, where CQ resistance is present in both species, using a modified schizont maturation assay. In
P. falciparum
, CQ 50% inhibitory concentrations (IC
50
s) were reduced when CQ was combined with VP (1.4-fold), MF (1.2-fold), L7 (4.2-fold), or PQ (1.8-fold). The degree of CQ resistance reversal in
P. falciparum
was highly correlated with CQ susceptibility for all CQRRAs (
R
2
= 0.951, 0.852, 0.962, and 0.901 for VP, MF, L7, and PQ, respectively), in line with observations in
P. falciparum
laboratory strains. In contrast, no reduction in the CQ IC
50
s was observed with any of the CQRRAs in
P. vivax
, even in those isolates with high chloroquine IC
50
s. The differential effect of CQRRAs in
P. falciparum
and
P. vivax
suggests significant differences in CQ kinetics and, potentially, the likely mechanism of CQ resistance between these two species.
Roles of
ramR
and
tet
(A) Mutations in Conferring Tigecycline Resistance in Carbapenem-Resistant Klebsiella pneumoniae Clinical Isolates
Authors: Chiu Sheng-Kang , Huang Li-Yueh , Chen Hsi , Tsai Yu-Kuo , Liou Ci-Hong , Lin Jung-Chung , Siu L. Kristopher , Chang Feng-Yee , Yeh Kuo-Ming 
Published: May 2017

ABSTRACT

Tigecycline is regarded as a last-resort treatment for carbapenem-resistant
Klebsiella pneumoniae
(CRKP) infections, but increasing numbers of tigecycline-resistant
K. pneumoniae
isolates have been reported. The tigecycline resistance mechanisms in CRKP are undetermined. This study aimed to elucidate the mechanisms underlying tigecycline resistance in 16 tigecycline- and carbapenem-resistant
K. pneumoniae
(TCRKP) isolates. Mutations in tigecycline resistance determinant genes [
ramR
,
acrR
,
oqxR
,
tet
(A),
tet
(L),
tet
(X),
tet
(M),
rpsJ
] were assessed by PCR amplicon sequencing, and mutations in
ramR
and
tet
(A) exhibited high prevalences individually (81%) and in combination (63%). Eight functional
ramR
mutation profiles reducing tigecycline sensitivity were verified by plasmid complementation of wild-type and mutant
ramR
. Using a site-specific mutant, the most frequent RamR mutation, A19V (60%), had no significant effect on tigecycline susceptibility or the upregulation of
ramA
and
acrA
. Two
tet
(A) variants with double frameshift mutations, type 1 and type 2, were identified; type 2
tet
(A) is novel. A parent strain transformed with a plasmid carrying type 1 or type 2
tet
(A) increased the tigecycline MIC by 8-fold or 4-fold, respectively. Synergistic effects were observed in strains harboring no
ramR
gene and a mutated
tet
(A), with an 8-fold increase in the tigecycline MIC compared with that in strains harboring only mutated
tet
(A) being seen. Overall, mutations in the
ramR
and
tet
(A) efflux genes constituted the major tigecycline resistance mechanisms among the studied TCRKP isolates. The identification of strains exhibiting the combination of a
ramR
deficiency and widespread mutated
tet
(A) is concerning due to the possible dissemination of increased tigecycline resistance in
K. pneumoniae
.
Aeromonas salmonicida Growth in Response to Atlantic Salmon Mucins Differs between Epithelial Sites, Is Governed by Sialylated and
N
-Acetylhexosamine-Containing
O
-Glycans, and Is Affected by Ca
2+
Authors: Padra János Tamás , Sundh Henrik , Sundell Kristina , Venkatakrishnan Vignesh , Jin Chunsheng , Samuelsson Tore , Karlsson Niclas G. , Lindén Sara K. 
Published: May 2017

ABSTRACT

Aeromonas salmonicida
causes furunculosis in salmonids and is a threat to Atlantic salmon aquaculture. The epithelial surfaces that the pathogen colonizes are covered by a mucus layer predominantly comprised of secreted mucins. By using mass spectrometry to identify mucin glycan structures with and without enzymatic removal of glycan residues, coupled to measurements of bacterial growth, we show here that the complex Atlantic salmon intestinal mucin glycans enhance
A. salmonicida
growth, whereas the more simple skin mucin glycans do not. Of the glycan residues present terminally on the salmon mucins, only
N
-acetylglucosamine (GlcNAc) enhances growth. Sialic acids, which have an abundance of 75% among terminal glycans from skin and of <50% among intestinal glycans, cannot be removed or used by
A. salmonicida
for growth-enhancing purposes, and they shield internal GlcNAc from utilization. A Ca
2+
concentration above 0.1 mM is needed for
A. salmonicida
to be able to utilize mucins for growth-promoting purposes, and 10 mM further enhances both
A. salmonicida
growth in response to mucins and binding of the bacterium to mucins. In conclusion, GlcNAc and sialic acids are important determinants of the
A. salmonicida
interaction with its host at the mucosal surface. Furthermore, since the mucin glycan repertoire affects pathogen growth, the glycan repertoire may be a factor to take into account during breeding and selection of strains for aquaculture.