bluuebunny/crossref_metadata_2025_split huggingface dataset:
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia
Authors: Li Qirui , Guo Ruolan , Gao Lu , Cui Lang , Zhao Zhihui , Yu Xia , Yuan Yue , Xu Xiwei 
Published: September 2019

AbstractBackgroundBiallelic variants of the CASQ2 are known to cause the autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease that predisposes young individuals to syncope and sudden cardiac death. To date, only about 24 CASQ2 variants have been reported in association with CPVT pathogenesis; furthermore, studies in Asians, especially in the Chinese population, are relatively rare. The aim of this study was to detect CASQ2 variants in Chinese patients with CPVT.MethodsWe used targeted next‐generation sequencing (NGS) to identify CASQ2 variants in Chinese patients with CPVT. A screening process was performed to prioritize rare variants of potential functional significance. Sanger sequencing was conducted to conform the candidate variants and determine the parental origin.ResultsWe identified seven different CASQ2 variants, of which three (c.1074_1075delinsC, c.1175_1178delACAG, and c.838+1G>A) have not been previously reported. The variants exhibited autosomal recessive inheritance, and were detected in four unrelated Chinese families with CPVT. They included a nonsense variant c.97C>T (p.R33*) and a missense variant c.748C>T (p.R250C) in Family 1 with three CPVT patients; two heterozygous frameshift variants, c.1074_1075delinsC (p.G359Afs*12) and c.1175_1178delACAG (p.D392Vfs*84), in Family 2 with one CPVT patient; one pathogenic homozygous variant c.98G>A (p.R33Q) of CASQ2 in the CPVT patient of Family 3; and two heterozygous splicing variants, (c.532+1G>A) and (c.838+1G>A), in Family 4 with one CPVT patient.ConclusionTo our knowledge, this is the first systematic study of Chinese children with CASQ2 variants. Our work further expands the genetic spectrum of CASQ2‐associated CPVT.
Long‐Chain n‐3 PUFA Content and n‐6/n‐3 PUFA Ratio in Mammal, Poultry, and Fish Muscles Largely Explain Differential Protein and Lipid Oxidation Profiles Following In Vitro Gastrointestinal Digestion
Authors: Van Hecke Thomas , Goethals Sophie , Vossen Els , De Smet Stefaan 
Published: September 2019

ScopeMuscle food characteristics (fatty acid profile, heme‐Fe, intrinsic antioxidants) that relate to the formation of (patho)physiological oxidation products during gastrointestinal digestion are investigated.Methods and ResultsMuscles (n = 33) from 18 mammal, poultry, and fish species, of which some are mixed with lard to standardize their fatty acid profile, are digested in vitro. Lipid oxidation is assessed by thiobarbituric reactive substances (TBARS), n‐3 PUFA derivative 4‐hydroxy‐2‐hexenal and propanal, n‐6 PUFA derivative 4‐hydroxy‐2‐nonenal and hexanal, and protein oxidation by carbonylation. Digests of n‐3 PUFA‐rich fish demonstrated the highest n‐3 PUFA oxidation, whereas digests of various poultry and rabbit muscles showed highest n‐6 PUFA oxidation, which correlated significantly with the n‐6/n‐3 PUFA ratio. Without lard addition, lipid oxidation is significantly higher in chicken and pork loin digests versus beef and deer digests, whereas the opposite occurred when these muscles are mixed with lard. Protein carbonylation correlates significantly with levels of TBARS and the sum of hydroxy‐alkenals in digests. The n‐6/n‐3 PUFA ratio correlates well with the 4‐hydroxy‐2‐nonenal/4‐hydroxy‐2‐hexenal ratio in digests.ConclusionsMuscular fatty acid profiles largely explain type and extent of lipid and protein oxidation during gastrointestinal digestion. Red meat only stimulates oxidation when digested with specific fat sources.
A Metabolomic Study of Biomarkers of Habitual Coffee Intake in Four European Countries
Authors: Rothwell Joseph A. , Keski‐Rahkonen Pekka , Robinot Nivonirina , Assi Nada , Casagrande Corinne , Jenab Mazda , Ferrari Pietro , Boutron‐Ruault Marie‐Christine , Mahamat‐Saleh Yahya , Mancini Francesca Romana , Boeing Heiner , Katzke Verena , Kühn Tilman , Niforou Katerina , Trichopoulou Antonia , Valanou Elisavet , Krogh Vittorio , Mattiello Amalia , Palli Domenico , Sacerdote Carlotta , Tumino Rosario , Scalbert Augustin 
Published: September 2019

ScopeThe goal of this work is to identify circulating biomarkers of habitual coffee intake using a metabolomic approach, and to investigate their associations with coffee intake in four European countries.Methods and resultsUntargeted mass spectrometry‐based metabolic profiling is performed on serum samples from 451 participants of the European Prospective Investigation on Cancer and Nutrition (EPIC) originating from France, Germany, Greece, and Italy. Eleven coffee metabolites are found to be associated with self‐reported habitual coffee intake, including eight more strongly correlated (r = 0.25–0.51, p < 10E−07). Trigonelline shows the highest correlation, followed by caffeine, two caffeine metabolites (paraxanthine and 5‐Acetylamino‐6‐amino‐3‐methyluracil), quinic acid, and three compounds derived from coffee roasting (cyclo(prolyl‐valyl), cyclo(isoleucyl‐prolyl), cyclo(leucyl‐prolyl), and pyrocatechol sulfate). Differences in the magnitude of correlations are observed between countries, with trigonelline most highly correlated with coffee intake in France and Germany, quinic acid in Greece, and cyclo(isoleucyl‐prolyl) in Italy.ConclusionSeveral biomarkers of habitual coffee intake are identified. No unique biomarker is found to be optimal for all tested populations. Instead, optimal biomarkers are shown to depend on the population and on the type of coffee consumed. These biomarkers should help to further explore the role of coffee in disease risk.
GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract
Authors: Walther Barbara , Lett Aaron M. , Bordoni Alessandra , Tomás‐Cobos Lidia , Nieto Juan Antonio , Dupont Didier , Danesi Francesca , Shahar Danit R. , Echaniz Ana , Re Roberta , Fernandez Aida Sainz , Deglaire Amélie , Gille Doreen , Schmid Alexandra , Vergères Guy 
Published: September 2019

AbstractNutritional research is currently entering the field of personalized nutrition, to a large extent driven by major technological breakthroughs in analytical sciences and biocomputing. An efficient launching of the personalized approach depends on the ability of researchers to comprehensively monitor and characterize interindividual variability in the activity of the human gastrointestinal tract. This information is currently not available in such a form. This review therefore aims at identifying and discussing published data, providing evidence on interindividual variability in the processing of the major nutrients, i.e., protein, fat, carbohydrates, vitamins, and minerals, along the gastrointestinal tract, including oral processing, intestinal digestion, and absorption. Although interindividual variability is not a primary endpoint of most studies identified, a significant number of publications provides a wealth of information on this topic for each category of nutrients. This knowledge remains fragmented, however, and understanding the clinical relevance of most of the interindividual responses to food ingestion described in this review remains unclear. In that regard, this review has identified a gap and sets the base for future research addressing the issue of the interindividual variability in the response of the human organism to the ingestion of foods.
A 32‐channel multi‐coil setup optimized for human brain shimming at 9.4T
Authors: Aghaeifar Ali , Zhou Jiazheng , Heule Rahel , Tabibian Behzad , Schölkopf Bernhard , Jia Feng , Zaitsev Maxim , Scheffler Klaus 
Published: September 2019

PurposeA multi‐coil shim setup is designed and optimized for human brain shimming. Here, the size and position of a set of square coils are optimized to improve the shim performance without increasing the number of local coils. Utilizing such a setup is especially beneficial at ultrahigh fields where B0 inhomogeneity in the human brain is more severe.MethodsThe optimization started with a symmetric arrangement of 32 independent coils. Three parameters per coil were optimized in parallel, including angular and axial positions on a cylinder surface and size of the coil, which were constrained by cylinder size, construction consideration, and amplifiers specifications. B0 maps were acquired at 9.4T in 8 healthy volunteers for use as training data. The global and dynamic shimming performance of the optimized multi‐coil were compared in simulations and measurements to a symmetric design and to the scanner's second‐order shim setup, respectively.ResultsThe optimized multi‐coil performs better by 14.7% based on standard deviation (SD) improvement with constrained global shimming in comparison to the symmetric positioning of the coils. Global shimming performance was comparable with a symmetric 65‐channel multi‐coil and full fifth‐order spherical harmonic shim coils. On average, an SD of 48.4 and 31.9 Hz was achieved for in vivo measurements after global and dynamic slice‐wise shimming, respectively.ConclusionsAn optimized multi‐coil shim setup was designed and constructed for human whole‐brain shimming. Similar performance of the multi‐coils with many channels can be achieved with a fewer number of channels when the coils are optimally arranged around the target.
A deep learning method for image‐based subject‐specific local SAR assessment
Authors: Meliadò E.F. , Raaijmakers A.J.E , Sbrizzi A. , Steensma B.R. , Maspero M. , Savenije M.H.F. , Luijten P.R. , van den Berg C.A.T. 
Published: September 2019

PurposeLocal specific absorption rate (SAR) cannot be measured and is usually evaluated by offline numerical simulations using generic body models that of course will differ from the patient's anatomy. An additional safety margin is needed to include this intersubject variability. In this work, we present a deep learning–based method for image‐based subject‐specific local SAR assessment. We propose to train a convolutional neural network to learn a “surrogate SAR model” to map the relation between subject‐specific maps and the corresponding local SAR.MethodOur database of 23 subject‐specific models with an 8–transmit channel body array for prostate imaging at 7 T was used to build 5750 training samples. These synthetic complex maps and local SAR distributions were used to train a conditional generative adversarial network. Extra penalization for local SAR underestimation errors was included in the loss function. In silico and in vivo validation were performed.ResultsIn silico cross‐validation shows a good qualitative and quantitative match between predicted and ground‐truth local SAR distributions. The peak local SAR estimation error distribution shows a mean overestimation error of 15% with 13% probability of underestimation. The higher accuracy of the proposed method allows the use of less conservative safety factors compared with standard procedures. In vivo validation shows that the method is applicable with realistic measurement data with impressively good qualitative and quantitative agreement to simulations.ConclusionThe proposed deep learning method allows online image‐based subject‐specific local SAR assessment. It greatly reduces the uncertainty in current state‐of‐the‐art SAR assessment methods, reducing the time in the examination protocol by almost 25%.
Quantification of whole‐brain oxygenation extraction fraction and cerebral metabolic rate of oxygen consumption in adults with sickle cell anemia using individual T2‐based oxygenation calibrations
Authors: Li Wenbo , Xu Xiang , Liu Peiying , Strouse John J. , Casella James F. , Lu Hanzhang , van Zijl Peter C.M. , Qin Qin 
Published: September 2019

PurposeTo evaluate different T2‐oxygenation calibrations for estimating venous oxygenation in people with sickle cell anemia (SCA).MethodsBlood T2 values were measured at 3 T in the internal jugular veins of 12 healthy volunteers and 11 SCA participants with no history of stroke, recent transfusion, or renal impairment. T2‐oxygenation relationships of both sickled and normal blood samples were calibrated individually and compared with values generated from published models. After converting venous T2 values to venous oxygenation, whole‐brain oxygen extraction fraction and cerebral metabolic rate of oxygen were calculated.ResultsSickle blood samples' oxygenation values calculated from our individual calibrations agreed well with measurements using a blood analyzer, whereas previous T2 calibrations based on normal blood samples showed 13%‐19% underestimation. Meanwhile, oxygenation values calculated from previous grouped T2 calibration for sickle blood agreed well with experimental measurement on averaged values, but showed up to 20% variation for several individual samples. Using individual T2 calibrations, the whole‐brain oxygen extraction fraction and cerebral metabolic rate of oxygen of SCA participants were 0.38 ± 0.08 and 172 ± 42 µmol/min/100 g, respectively, which were comparable to those values measured on healthy volunteers.ConclusionOur results confirm that sickle blood T2 values not only depend on the hematocrit and oxygenation values, but also on other hematological factors. The individual T2 calibrations minimized the effect of heterogeneity of sickle blood between different SCA populations and improved the accuracy of T2‐based oximetry. The measured oxygen extraction fraction and cerebral metabolic rate of oxygen of this group of SCA participants were found to not differ significantly from those of healthy individuals.
Influence of the cardiac cycle on velocity selective and acceleration selective arterial spin labeling
Authors: Franklin Suzanne L. , Schmid Sophie , Bos Clemens , van Osch Matthias J. P. 
Published: September 2019

PurposeIn this study, the influence of the cardiac cycle on the amount of label produced by a velocity‐selective (VSASL) and acceleration‐selective arterial spin labeling (AccASL) module was investigated.MethodsA short‐PLD sequence was developed where a single VSASL‐ or AccASL‐module was preceded by pCASL labeling to isolate the arterial blood pool. ASL subtraction was performed with label/control images with similar cardiac phase and time‐of‐measurement, followed by retrospective binning in 10 cardiac phase bins. ASL signal variation over the heart cycle was evaluated and tested for significance using a permutation test.ResultsVSASL and AccASL showed significant arterial signal fluctuations over the cardiac cycle of up to ~36% and ~64%, respectively, mainly in areas containing large arteries. pCASL also showed significant signal fluctuations, of up to ~25% in arteries. Raw label/control images confirmed that the observed signal fluctuations were caused by the amount of label produced during the cardiac cycle, rather than inflow‐effects, because the raw images did not all show equal cardiac phase dependence.No significant effects of the cardiac cycle were found on the gray matter ASL‐signal.ConclusionSignificant influence of the cardiac cycle on the generated label was found for spatially nonselective ASL‐sequences. Hence, to become independent of the cardiac cycle, sufficient averages need to be taken. Alternatively, these findings could be highly interesting for the purpose of quantifying pulsatility more distally in the vascular tree.
Changes in whole body pain intensity and widespreadness during urologic chronic pelvic pain syndrome flares—Findings from one site of the MAPP study
Authors: Xu Tianlin , Lai H. Henry , Pakpahan Ratna , Vetter Joel , Andriole Gerald L. , Bradley Catherine , Naliboff Bruce D. , Colditz Graham A. , Sutcliffe Siobhan 
Published: September 2019

AbstractObjectiveTo investigate changes in whole body pain during urologic chronic pelvic pain syndrome (UCPPS) flares.Materials and MethodsUCPPS participants at one site of the multidisciplinary approach to the study of chronic pelvic pain research network reported their daily flare status and pain levels in 7 pelvic/genital and 42 extrapelvic body areas (scale = 0‐10) for 10 days at baseline and during their first flare. Linear mixed models and conditional logistic regression were used to investigate symptom changes during flares. Analyses were stratified by chronic overlapping pain condition (COPC) status.ResultsFifty‐five out of 60 participants completed the study, 27 of whom provided information on both nonflare (n = 281) and flare (n = 208) days. Pelvic/genital pain intensity (mean change = 3.20 of 10) and widespreadness (mean = 1.48) increased significantly during flares for all participants (all P interaction > .1), whereas extrapelvic pain intensity increased significantly only among participants with COPCs (mean = 2.09; P interaction < .0001). Pelvic/genital and extrapelvic pain also varied on nonflare days but symptom fluctuations were generally ≤1 point (80.0%‐100% of participants). Increases of ≥2 points in pelvic/genital pain intensity (odds ratio (OR) = 22.0, 95% confidence interval (CI) = 4.0‐118.6) and ≥1 point in urination‐related pain (OR = 9.10, 95% CI = 1.74‐47.7) were independently associated with flare onset for all participants.ConclusionOur observations of extrapelvic pain increases during flares for patients with COPCs and our independent associations between pelvic/genital/urination‐related pain intensity and flare onset may provide insight into mechanisms underlying flare development (eg, common biologic pathways between UCPPS phenotypes and flares), flare management (eg, local vs systemic therapies by COPC status), and patient flare definitions.
Combination therapy in overactive bladder‐untapped research opportunities: A systematic review of the literature
Authors: Kasman Alex , Stave Christopher , Elliott Christopher S. 
Published: September 2019

AbstractAimsOveractive bladder (OAB) affects over 17% of the population and significantly effect the health‐related quality of life. The treatments for OAB include first line (lifestyle modification, pelvic floor muscle training), second line (anticholinergic or beta‐3 agonist medications), and third line therapies (intradetrusor botulinum toxin injection, sacral neurostimulation [SNM], or percutaneous tibial nerve stimulation [PTNS]). For those with urinary incontinence secondary to OAB, complete continence is the goal of therapy, though cure rates are only 5% to 40%. The use of combination therapies can be employed in refractory OAB, however, the efficacy of pooled modalities is relatively unknown. Our objective was to determine the volume of data supporting combination therapy in treating OAB.MethodsWe systematically reviewed PubMed, EMBASE, the Cochrane Library, and Google Scholar for articles published before October 2018. Each was independently reviewed by two reviewers and examined in detail if they met inclusion criteria.ResultsA total of 32 studies met inclusion criteria and were reviewed. Most large prospective studies evaluated combinations of medications with behavioral therapy or medications together. Combination therapy studies of third‐line treatments were rare and centered on medication with PTNS. No studies examined intradetrusor botulinum toxin injections in combination with another therapy and only one retrospective study briefly examined SNM therapy in combination with medication.ConclusionCombination therapy, with certain first, second, and third‐line OAB therapies, appears to be efficacious. There is a further need for carefully designed combination therapy studies, particularly those including third line modalities.
The effects of microenergy acoustic pulses on an animal model of obesity‐associated stress urinary incontinence. Part 1: Functional and histologic studies
Authors: Wang Bohan , Ruan Yajun , Zhou Tie , Wang Lin , Li Huixi , Peng Dongyi , Reed‐Maldonado Amanda B. , Sanford Melissa T , Lee Yung‐chin , Zhou Jun , Wang Hsun Shuan , Banie Lia , Wang Guifang , Liu Jihong , Lin Guiting , Lue Tom F. 
Published: September 2019

AbstractAimObesity is a strong independent risk factor for urinary incontinence. Effective therapeutic approaches for obesity‐associated stress urinary incontinence (OA‐SUI) are lacking as the mechanisms remain unclear. The aim of our study is to explore the impacts of microenergy acoustic pulse (MAP) therapy on urethral and pelvic floor muscle structure and function in female lean and fatty rats.MethodsA total 24 Zucker fatty (ZF) and 24 Zucker lean (ZL) female 24‐week‐old rats were grouped into four groups: ZL control, ZLMAP, ZF control, and ZFMAP. For MAP treatment, 500 pulses were delivered at an energy level of 0.033 mJ/mm
2 and a frequency of 3 Hz and were applied twice a week for 4 weeks. After a 1‐week washout, all rats underwent conscious cystometry and leak‐point pressure (LPP) measurements followed by ex vivo organ‐bath assay and histological study.ResultsZF rats had lower LPP as compared to ZL rats, and MAP treatment significantly improved LPP in ZF rats (P < .05). Impaired muscle contractile activity (MCA) in organ‐bath study was noted in ZF rats. MAP treatment significantly increased MCA in ZF rats (P < .05) and also increased the thickness of the striated muscle layer and the number of neuromuscular junctions (NMJs). In situ, MAP activated muscle satellite cells significantly (P < .05).ConclusionsObesity impairs the function of both the urethral sphincter and the pelvic floor and leads to atrophy and distortion of the striated muscle in obese female rats. These issues contribute to OA‐SUI. MAP improves continence by stimulating muscle regeneration and nerve innervation as well as by activating satellite cells.
Bi‐objective missile rescheduling for a naval task group with dynamic disruptions
Authors: Silav Ahmet , Karasakal Orhan , Karasakal Esra 
Published: September 2019

AbstractThis paper considers the rescheduling of surface‐to‐air missiles (SAMs) for a naval task group (TG), where a set of SAMs have already been scheduled to intercept a set of anti‐ship missiles (ASMs). In missile defense, the initial engagement schedule is developed according to the initial state of the defensive and attacking units. However, unforeseen events may arise during the engagement, creating a dynamic environment to be handled, and making the initial schedule infeasible or inefficient. In this study, the initial engagement schedule of a TG is assumed to be disrupted by the occurrence of a destroyed ASM, the breakdown of a SAM system, or an incoming new target ASM. To produce an updated schedule, a new biobjective mathematical model is formulated that maximizes the no‐leaker probability value for the TG and minimizes the total deviation from the initial schedule. With the problem shown to be NP‐hard, some special cases are presented that can be solved in polynomial time. We solve small size problems by the augmented ϵ‐constraint method and propose heuristic procedures to generate a set of nondominated solutions for larger problems. The results are presented for different size problems and the total effectiveness of the model is evaluated.