bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retrospective comparison of parent‐reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study
Authors: Hancock Bailey , Miller Erin M. , Parrott Ashley , Weaver Kathryn Nicole , Tretter Justin T. , Pilipenko Valentina , Shikany Amy R. 
Published: March 2022

AbstractBicuspid aortic valve (BAV) is the most common congenital heart defect, which can cause severe cardiac complications. BAVs cluster in families and demonstrate high heritability. Cardiac screening for first‐degree relatives of individuals with a BAV is recommended. This retrospective two‐group study evaluated the impact of cardiovascular genetic counseling provided by a board‐certified genetic counselor on parent‐reported outcomes by comparing parental responses of those who received genetic counseling by a genetic counselor (GC group) for family history of BAV to those who did not (non‐GC group). A retrospective chart review from May 2016 to June 2019 identified 133 pediatric patients with an isolated BAV. Parents of eligible probands were invited to complete an online survey assessing genetics knowledge, empowerment (Genomics Outcome Scale), and familial uptake of cardiac screening. Surveys were completed by 38/97 (39%) parents in the non‐GC group and 20/36 (56%) parents in the GC group. The median genetics knowledge score was not significantly different between the two groups (GC group: 8, range 3–11 out of a maximum possible of 12; non‐GC group: 7, range 2–11; p = .08). The mean empowerment score was not significantly different between the two groups (GC group: mean 24.6, SD 2.2; non‐GC group: mean 23.2, SD 3.5; p = .06). The uptake of cardiac screening was significantly higher in the GC group with 39/59 (66%) total first‐degree relatives reported as having been screened compared with 36/91 (40%) in the non‐GC group (p = .002). Parent‐reported outcomes in our study suggest that receiving genetic counseling by a board‐certified genetic counselor significantly increased familial uptake of cardiac screening for first‐degree relatives of pediatric patients with a BAV. Studies with larger sample sizes are needed to confirm the findings of this study; however, a referral to a genetic counselor should be considered for patients with a BAV.
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations
Authors: Moarefian Shirin , Zamani Mahdi , Rahmanifar Ali , Behnam Babak , Zaman Talieh 
Published: March 2022

AbstractCitrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis. Disease confirmation was done by ASS1 gene mutation analysis using next‐generation sequencing, DNA Sanger sequencing. The study group was 17 citrullinemia type 1 patients from 10 unrelated families referred to Iranian National Society for Study on Inborn Errors of Metabolism's clinic between 2008 and 2020. Clinical, laboratory, and molecular data were retrospectively evaluated. Eleven different ASS1 gene mutations were detected in 13 (76%) of 17 neonatal, three (18%) of 17 late infantile, and one (6%) of 17 asymptomatic patients. Severe developmental delay and intractable seizures despite metabolic control was outcome of neonatal form survivor. Two late infantile form patients live metabolically controlled with quite normal performance. DNA mutations are as follows: seven missense, one nonsense, and two insertion/deletion mutations in 12, two, and three patients, respectively. Five novel mutations were detected including a homozygous GG deletion in exon 12 (c.790_791delGG;p.Gly264Profs*3) and a homozygous mutation in exon 7 (c.440C>T; p.Met147Thr), both causing infantile (late onset) form; a homozygous mutation in exon 6 (c.1130T>C; p.Met376Thr) causing neonatal form; two compound heterozygote mutations in exon 14 (c.1167_1168insC:p.Gly390Argfs*22& c.1186T>A; p.Ser396Thr) causing asymptomatic form. Five (38%) patients with classic neonatal form had mutation in exon 14 of ASS1 (c.1168G>A; p.Gly390Arg). Classic neonatal was the most common form of disease in Iranian‐studied patients and homozygote c.1168G>A was the most frequent ASS1 gene mutation. Global neonatal screening for citrullinemia type 1 in Iran is recommended and certain mutations can be used for screening severe form in this population.
Yield of baseline imaging for distant metastases in high‐risk primary melanoma
Authors: Yan Mabel K. , Adler Nikki R. , Pan Yan , Chamberlain Alexander , Kelly John , Yap Kenneth , Voskoboynik Mark , Haydon Andrew , Shackleton Mark , Mar Victoria J. 
Published: March 2022

AbstractBackgroundThe yield of baseline imaging in patients presenting with higher risk primary tumours, at least American Joint Committee on Cancer 8th edition stage IIC or III melanoma, is unclear.MethodsThis retrospective study included patients referred to the Victorian Melanoma Service from January 2017 to April 2020, diagnosed with at least stage IIC or stage III melanoma. Patients with a T4b tumour and no sentinel lymph node biopsy were included as ‘T4bNX’.ResultsOne hundred and sixty‐four patients (median age 65 years) with baseline imaging (T4bNX: 19, IIC: 30, IIIA: 21, IIIB: 43, IIIC: 50, IIID: 1) were included. The majority were male (73%), and those with T4bNX melanoma tended to be older (median age 79 years). Distant metastases were detected in 21% (4/19) of T4bNX, 3% (1/30) of stage IIC, 0% (0/21) of stage IIIA, and 6% (6/94) of stages IIIB–D melanoma patients. All stage III patients with distant metastases had palpable lymphadenopathy a presentation. Two patients had brain metastases, both of whom had T4bNX melanoma and synchronous extra‐cranial metastases.ConclusionsCompared to stage IIC, baseline imaging detects higher rates of extra‐cranial distant disease in stages IIIB–D and T4bNX melanoma. Intracranial imaging has greater yield in patients with distant extra‐cranial disease.
Rise of a native apex predator and an invasive zooplankton cause successive ecological regime shifts in a North Temperate Lake
Authors: Martin Benjamin E. , Walsh Jake R. , Vander Zanden M. Jake 
Published: March 2022

AbstractEcosystems can undergo abrupt regime shifts as a result of many factors. Shifts between turbid and clearwater states are well understood for human‐impacted shallow lakes, but are not well understood in other types of lakes. Here we use long‐term data to describe abrupt shifts in water clarity in Trout Lake, an oligotrophic lake with a largely undeveloped watershed. For several decades mean summer water clarity averaged 4.5 m, but then around 2007 water clarity sharply increased and the “clear water regime” persisted for nearly a decade. Nutrient availability did not explain these changes, but rather they were explained by a classic top‐down trophic cascade. Around 2007, the population of the apex pelagic predator, Lake Trout, substantially increased. This was accompanied by a sharp decline in the lake's major pelagic prey fish, the zooplanktivorous Cisco. In turn, there was an increase in large‐bodied zooplankton taxa (calanoids, Daphnia), which reduced algal biomass. This clear water regime was then disrupted in 2014 by the invasion of a predatory zooplankton, Bythotrephes cederstroemi. This invasion corresponded to strong impacts on lower trophic levels (decrease in large‐bodied zooplankton and decreased water clarity), but more minor impacts on higher trophic levels (increased Cisco, decreased Lake Trout abundances)—in effect reversing the trophic cascade and shifting Trout Lake to a novel ecosystem state. Our study provides a long‐term, empirically based example of successive ecological regime shifts that occurred from the rise of an apex predator and a mid‐trophic level invasion in an undeveloped, oligotrophic lake.
Polymer‐Carrying Ability of Actin Filaments Interacting with Myosin Motors in a Biological Motility System In Vitro
Authors: Sunada Yuma , Hatori Kuniyuki 
Published: March 2022

AbstractThe reconstituted motility system of actin‐myosin is expected to be used in bioinspired transport devices, in which carried materials are attached to either moving actin filaments or walking myosin molecules. However, the dependence of the ability to transport on the size of the attached materials is still inadequately understood. Here, as carried materials, polyethylene glycols (PEGs) of various sizes are covalently bound to actin filaments, and the motility of PEG‐attached filaments on a heavy meromyosin (HMM) immobilized on a glass surface is observed via fluorescence microscopy. Full attachment of 2 kDa PEG, with an approximately 2 nm gyration radius, decreases the velocity and fraction of moving actin filaments by approximately 10% relative to unattached filaments. For the 5 kDa PEG, the fraction of moving filaments is decreased by approximately 70% even when the filaments contain only 20% PEG‐attached actin. The attachment of both sizes of PEGs suppresses the actin‐activated ATPase activity at the same level. These results suggest that actin filaments can carry PEGs up to 2 kDa having the same size as actin monomers, while the rate of ATP hydrolysis is limited. The size dependence may provide a criterion for material delivery via actin filaments in nanotransport applications.
Longitudinal Tau Positron Emission Tomography in Dementia with Lewy Bodies
Authors: Chen Qin , Przybelski Scott A. , Senjem Matthew L. , Schwarz Christopher G. , Lesnick Timothy G. , Botha Hugo , Knopman David S. , Graff‐Radford Jonathan , Savica Rodolfo , Jones David T. , Fields Julie A. , Jain Manoj K. , Graff‐Radford Neill R. , Ferman Tanis J. , Kremers Walter K. , Jack Clifford R. , Petersen Ronald C. , Boeve Bradley F. , Lowe Val J. , Kantarci Kejal 
Published: March 2022

ABSTRACTBackground and ObjectivePatients with dementia with Lewy bodies (DLB) may have overlapping Alzheimer's disease pathology. We investigated the longitudinal rate of tau accumulation and its association with neurodegeneration and clinical disease progression in DLB.MethodsConsecutive patients with probable DLB (n = 22) from the Mayo Clinic Alzheimer's Disease Research Center and age‐matched and sex‐matched cognitively unimpaired controls (CU; n = 22) with serial magnetic resonance imaging and flortaucipir positron emission tomography scans within an average of 1.6 years were included. Regional annualized rates of flortaucipir uptake standardized uptake value ratios (SUVr) were calculated. Regional annualized rates of cortical volume change were measured with the Tensor Based Morphometry–Syn algorithm.ResultsThe annual increase of flortaucipir SUVr was greater in the middle and superior occipital, fusiform, and inferior parietal cortices in DLB (mean: 0.017, 0.019, 0.019, and 0.015, respectively) compared with the CU (mean: −0.006, −0.009, −0.003, and − 0.005, respectively; P < 0.05). In patients with DLB (but not the CU), a longitudinal increase in flortaucipir SUVr was associated with longitudinal cortical atrophy rates in the lateral occipital and inferior temporoparietal cortices, hippocampus, and the temporal pole as well as a concurrent decline on Mini‐Mental State Examination and Clinical Dementia Rating–Sum of Boxes in the lateral occipital and the fusiform cortices.ConclusionsTau accumulation was faster in DLB compared with the CU, with increased accumulation rates in the lateral occipital and temporoparietal cortices. These increased rates of tau accumulation were associated with neurodegeneration and faster disease progression in DLB. Tau may be a potential treatment target in a subset of patients with DLB. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
The uncertainty of boundary can improve the classification accuracy of BI‐RADS 4A ultrasound image
Authors: Wang Huayu , Hu Yixin , Lu Yao , Zhou Jianhua , Guo Yongze 
Published: March 2022

AbstractPurposeThe Breast Imaging‐Reporting and Data System (BI‐RADS) for ultrasound imaging provides a widely used reporting schema for breast imaging. Previous studies have shown that in ultrasound imaging, 90% of BI‐RADS 4A tumors are benign lesions after biopsies. Unnecessary biopsy procedures can be avoided by accurate classification of BI‐RADS 4A tumors. However, the classification task is challenging and has not been fully investigated by existing studies. For benign and malignant tumors of BI‐RADS 4A, the appearances of intra‐class tumors are highly variable, the characteristics of inter‐class tumors is overall‐similar. Discriminative features need to be found to improve classification accuracy of BI‐RADS 4A tumors.MethodsIn this study, we designed the network using the clinical features of BI‐RADS 4A tumors to improve the discrimination ability of network. The boundary information is embedded into the input of the network using the uncertainty. A fine‐grained data augmentation method is used to find discriminative features in tumor information embedded with boundary information. Two mathematical methods, voting‐based and variance‐based, are used to define the uncertainty of boundary, and the differences of these two definitions are compared in a classification network.ResultsThe dataset we used to evaluate our method had 1155 2D grayscale images. Each image represented a unique BI‐RADS 4A tumor. Among them, 248 tumors were proven to be malignant by biopsy, and the remaining 907 were benign. A weakly supervised data augmentation network (WS‐DAN) was used as the backbone classification network, which showed competitive performance in finding discriminative features. Using the auxiliary input of the uncertain boundaries defined by the voting method, the area under the curve (AUC) value of our method was 0.8347 (sensitivity = 0.7774, specificity = 0.7459). The AUC value of the variance‐based uncertainty was 0.7789. The voting‐based uncertainty was higher than the baseline (AUC = 0.803), which only inputs the original image. Compared with the classic classification network, our method had a significant effect improvement (p < 0.01).ConclusionsUsing the uncertain boundaries defined by the voting methods as auxiliary information, we obtained a better performance in the classification of BI‐RADS 4A ultrasound images, while variance‐based uncertain boundaries had no effect on improving classification performance. Additionally, fine‐grained network helped find discriminative features comparing with the commonly used classification networks.
A novel method for reliability analysis with interval parameters based on active learning Kriging and adaptive radial‐based importance sampling
Authors: Wang Pan , Zhou Hanyuan , Hu Huanhuan , Zhang Zheng , Li Haihe 
Published: March 2022

AbstractFor the reliability analysis of complex engineering structures, the estimation of the bounds of failure probability with interval distribution parameters is an important task when the perfect information of random variables is unavailable and the corresponding probability distributions are imprecise. The present work proposes an active learning Kriging‐based method combining with adaptive radial based importance sampling to compute the bounds of failure probability. For computing the bounds, the classical double‐loop optimization model is always investigated in the standard normal space. To decouple the computation, the inner‐loop optimization is addressed with the monotonicity of the commonly used probability distributions. When suffering the high dimensional problem, the dimension reduction method is introduced in monotonic analysis. While for the outer‐loop optimization, the normal space is decomposed with spheres, then the proposed method with an adaptive updated procedure is given. With this method, the bounds of failure probability can be estimated efficiently, especial for the rare event. Numerical examples are investigated to validate the rationality and superiority of the proposed method. Finally, the proposed method is applied to the reliability analysis of turbine blade and aeronautical hydraulic pipeline system with interval distribution parameters.
Validation and reliability of the Care Vulnerability Index: A study by interrater agreement and test–retest method
Authors: Fernández Batalla Marta , Monsalvo San Macario Enrique , González Aguña Alexandra , Herrero Jaén Sara , Gonzalo de Diego Blanca , Manrique Anaya Yolima , Jiménez Rodríguez M. Lourdes , Melguizo Herrera Estela , Santamaría García José María 
Published: March 2022

AbstractAimThe aim of this study is to determine the validity and reliability of the Care Vulnerability Index (CVI) as a tool to estimate the need and competence of care.DesignA cross‐sectional survey including a longitudinal component.MethodsContent validity ratio (CVR) was calculated by interrater agreement of a group of 11 experts in two rounds. The test–retest analysis was measured in an urban population of Colombia with 96 participants through two statistical tests: Pearson's correlation coefficient and the difference in means.ResultsCare Vulnerability Index turned out to be valid with a CVR of 0.879. Reliability by Pearson correlation between test–retest was 0.912 (CI95: 0.872–0.941; p‐value <.01) and there was no significant mean difference between test and retest in global score and in clustered groups of variables. Validating CVI will make it possible to prioritize healthcare resources in the population and identify people susceptible to care problems.
Microchannel insulating foams comprising a multifunctional epoxy/graphene‐nanoplatelet nanocomposite
Authors: Schmid Eric D. , Veluswamy N. Krishnan P. , Klose Andrew M. , Fesmire James E. , Salem David R. 
Published: March 2022

AbstractGraphene nanomaterials have demonstrated simultaneous enhancement of both the thermal and mechanical properties of many base polymer systems, but for application as a reinforcement in multifunctional thermally insulating polymer foam the graphene additive must not significantly increase the macroscopic thermal conductivity. In an effort to study and decouple these mechanical and thermal properties, low loadings of reduced graphene oxide nanoplatelets have been added into epoxy formulations to comprise the matrix structure of hollow microchannel nanocomposite foams. Substantial improvements of 226% were achieved in the microchannel foam specific flexural modulus at only 0.15% graphene nanoplatelet loading without compromising the foam flexural strength and while also maintaining the low thermal conductivity of the baseline epoxy foam material. These results support the use of these nanocomposite foams as mechanically reinforced thermal insulation, with the addition of the graphene nanoplatelets potentially providing additional multifunctional improvements to the foam such as reduced UV‐radiation transmittance, improved electrical surface conductivity for diminished static charge buildup, and/or lowering of the coefficient of thermal expansion for enhanced structural stability in extreme environments. This particular combination of multifunctional properties makes these materials well suited as high‐performance structural thermal insulation materials in support of next generation space system applications.
Estimating survival parameters under conditionally independent left truncation
Authors: Sondhi Arjun 
Published: March 2022

AbstractDatabases derived from electronic health records (EHRs) are commonly subject to left truncation, a type of selection bias that occurs when patients need to survive long enough to satisfy certain entry criteria. Standard methods to adjust for left truncation bias rely on an assumption of marginal independence between entry and survival times, which may not always be satisfied in practice. In this work, we examine how a weaker assumption of conditional independence can result in unbiased estimation of common statistical parameters. In particular, we show the estimability of conditional parameters in a truncated dataset, and of marginal parameters that leverage reference data containing non‐truncated data on confounders. The latter is complementary to observational causal inference methodology applied to real‐world external comparators, which is a common use case for real‐world databases. We implement our proposed methods in simulation studies, demonstrating unbiased estimation and valid statistical inference. We also illustrate estimation of a survival distribution under conditionally independent left truncation in a real‐world clinico‐genomic database.
Precise measurement of 41K/39K ratios by high‐resolution multicollector inductively coupled plasma mass spectrometry under a dry and hot plasma setting
Authors: An Shichao , Luo Xianglong , Li Weiqiang 
Published: March 2022

RationaleStable K isotope geochemistry is becoming an important tool for various applications. Developments in analytical methods for K isotopes based on multicollector inductively coupled plasma mass spectrometry (MC‐ICP‐MS) without collision cell will bring research capability of K isotopes to many existing MC‐ICP‐MS labs.MethodsStable K isotopes were analyzed without applications of “cold plasma” and collision cell on a Nu 1700 Sapphire high‐resolution multicollector inductively coupled plasma mass spectrometer. A conventional dry and hot plasma setting is used for analysis to maintain high K sensitivity and signal stability, and high mass resolution was applied to provide interference‐free shoulders of 39K+ for isotopic measurement of 41K/39K ratios. 40Ar+ ion beam generated in ICP was neutralized in the ion guide rail for the Daly detector.ResultsUnder such operating conditions, an external reproducibility of <±0.1‰ (2 standard deviation) for 41K/39K is achieved for K solutions of 1 ppm or above. Tests were carried out to evaluate the influence of total K loading, K concentration and acid molarity mismatch, matrix effects, and 40Ar+ and 40Ar1H+ tailing on K isotope analysis. We found that the accuracy of K isotope analysis can be compromised by concentration mismatch of sample and standard K, by 0.007‰ in δ41K per 1% mismatch of K content. By contrast, mismatch of HNO3 molarity or existence of HCl in HNO3 exerts negligible influences on the analytical precision and accuracy of K isotope analysis. Furthermore, K isotope analytical results remain accurate when Na/K, Mg/K, Ca/K, Rb/K, V/K, and Cr/K ratios are below 3%.ConclusionsThe high‐precision K isotope analytical method reported here is robust for studies on K isotopic variations in geological, cosmochemical, and biological samples. The f41K values of six international geostandards measured using our method are consistent with data measured using different analytical methods from other laboratories.