bluuebunny/crossref_metadata_2025_split huggingface dataset:
Performance evaluation of predictive models for detecting MMR gene mutations associated with Lynch syndrome in cancer patients in a Chinese cohort in Taiwan
Authors: Hung Fei‐Hung , Peng Hung‐Pin , Hung Chen‐Fang , Hsieh Ling‐Ling , Yang An‐Suei , Wang Yong Alison 
Published: July 2024

AbstractIdentifying Lynch syndrome significantly impacts cancer risk management, treatment, and prognosis. Validation of mutation risk predictive models for mismatch repair (MMR) genes is crucial for guiding genetic counseling and testing, particularly in the understudied Asian population. We evaluated the performance of four MMR mutation risk predictive models in a Chinese cohort of 604 patients with colorectal cancer (CRC), endometrial cancer (EC), or ovarian cancer (OC) in Taiwan. All patients underwent germline genetic testing and 36 (6.0%) carried a mutation in the MMR genes (MLH1, MSH2, MSH6, and PMS2). All models demonstrated good performance, with area under the receiver operating characteristic curves comparable to Western cohorts: PREMM5 0.80 (95% confidence interval [CI], 0.73–0.88), MMRPro 0.88 (95% CI, 0.82–0.94), MMRPredict 0.82 (95% CI, 0.74–0.90), and Myriad 0.76 (95% CI, 0.67–0.84). Notably, MMRPro exhibited exceptional performance across all subgroups regardless of family history (FH+ 0.88, FH‐ 0.83), cancer type (CRC 0.84, EC 0.85, OC 1.00), or sex (male 0.83, female 0.90). PREMM5 and MMRPredict had good accuracy in the FH+ subgroup (0.85 and 0.82, respectively) and in CRC patients (0.76 and 0.82, respectively). Using the ratio of observed and predicted mutation rates, MMRPro and PREMM5 had good overall fit, while MMRPredict and Myriad overestimated mutation rates. Risk threshold settings in different models led to different positive predictive values. We suggest a lower threshold (5%) for recommending genetic testing when using MMRPro, and a higher threshold (20%) when using PREMM5 and MMRPredict. Our findings have important implications for personalized mutation risk assessment and counseling on genetic testing.
Parent‐reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience
Authors: Ijaz Maryam R. , Trepanier Angela M. , Kleinert Harold L. , Weiss Sierra M. , Meredith Stephanie H. 
Published: July 2024

AbstractIn 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open‐ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4–71.4)%. A total of 61 people provided an open‐ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1–5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.
Relationships between amplified quasi‐stationary waves and humid‐heat extremes in the Yangtze River Delta region
Authors: Li Jinglin , Yuan Jiacan , Li Dongdong 
Published: July 2024

AbstractHigh humidity combined with high temperature decreases the human body's capability to dissipate heat, causing serious health issues. While increased attention has been paid to changes in humid‐heat extremes under the current climate and in the future, the causes of near‐surface humid‐heat extremes over the Yangtze River Delta region are still unclear. Here we investigate the relationships between quasi‐stationary waves (QSWs), which are atmospheric Rossby waves with phase speed close to zero, and humid‐heat extremes over the Yangtze River Delta region during the summer from 1959 to 2021. Additionally, the potential physical processes that link them are also explored. We find that the QSWs with wavenumber 1–8 present different vertical structures: Wave 1–2 are baroclinic, while Wave 3–8 are barotropic. Wave 1, 3, 5, 6, 7 and 8 show phase‐locking behaviour. When the amplitudes of Wave 1, 3, 5 and 6 are higher, the frequency of humid‐heat extremes near the surface at specific locations tends to be higher than the norm. The high‐amplitude waves in different wavenumbers modulate near‐surface temperature and/or humidity in various ways, ultimately resulting in anomalously intensive humid‐heat extremes.
Peri‐operative zoledronic acid attenuates peri‐prosthetic osteolysis in a rat model of cemented knee replacement
Authors: Mann Kenneth A. , Miller Mark A. , Gandhi Sachin A. , Kusler Jace E. , Tatusko Megan E. , Biggs Amy E. , Oest Megan E. 
Published: July 2024

AbstractProgressive osteolysis can occur at the cement–bone interface of joint replacements and the associated loss of fixation can lead to clinical loosening. We previously developed a rat hemiarthroplasty model that exhibited progressive loss of fixation with the development of cement–bone gaps under the tibial tray that mimicked patterns found in human arthroplasty retrievals. Here we explored the ability of a bisphosphonate (zoledronic acid, ZA) to attenuate cement–bone osteolysis and maintain implant stability. Sprague‐Dawley rats (n = 59) received a poly(methylmethacrylate) cemented tibial component and were followed for up to 12 weeks. Treatment groups included peri‐operative administration of ZA (ZA group), administration of ZA at 6 weeks postop (late ZA group), or vehicle (Veh group). There was a 60% reduction in the rate of cement–bone gap formation for the ZA group (0.15 mm3/week) compared to Veh group (0.38 mm3/week, p = 0.016). Late ZA prevented further progression of gap formation but did not reverse bone loss to the level achieved in the ZA group. Micromotion from five times body weight toggle loading was positively correlated with cement–bone gap volume (p = 0.009) and negatively correlated with the amount of cement in the metaphysis (p = 0.005). Reduced new bone formation and enduring nonviable bone in the epiphysis for the ZA group were found. This suggests that low bone turnover in the epiphysis may suppress the early catabolic response due to implantation, thereby maintaining better fixation in the epiphysis. This preclinical model presents compelling supporting data documenting improved maintenance of the cement–bone fixation with the use of peri‐operative bisphosphonates.
Performance of pan‐enteroscopy in children with intestinal failure due to short bowel syndrome: A single‐center retrospective study
Authors: Salazar Jonathan A. , Chan Christina , Liu Enju , Hamroud Fatima , Grover Amit S. , Fox Victor L. , Ngo Peter D. , Jimenez Lissette , Duggan Christopher P. , Carey Alexandra N. 
Published: July 2024

AbstractObjectivesIn pediatric patients with intestinal failure (IF) due to short bowel syndrome (SBS), we hypothesized that young children, those with shorter residual small bowel and those with congenital malrotation of the bowel would be more likely to undergo pan‐enteroscopy. We aimed to determine the feasibility and diagnostic yield of pan‐enteroscopy in this cohort.MethodsWe performed a single‐center, retrospective study of pediatric patients with IF due to SBS who had undergone at least one GI endoscopic evaluation between January 1, 2018 and January 1, 2023.ResultsA pan‐enteroscopy might have been possible in 381 of the 431 procedures (206 patients) reviewed. Forty‐four (21%) patients underwent 54 pan‐enteroscopies. Children with a residual bowel length <35 cm had higher odds of undergoing pan‐enteroscopy (odds ratio [OR] 3.72, 95% confidence interval [CI] [1.32, 10.48], p = 0.01), as did patients with periprocedural glucagon‐like peptide 2 (GLP‐2) analog use (OR 4.30, 95% CI [1.24, 14.95], p = 0.02). Patients with diagnoses other than necrotizing enterocolitis (NEC) tended to be more likely to achieve a pan‐enteroscopy (OR 2.73, 95% CI [0.95,7.88], p = 0.06). Evidence of gross and histopathologic abnormalities were found in 77.8% and 78% of the procedures, respectively. No complications were identified.ConclusionIn a large cohort of children with SBS, pan‐enteroscopy was successfully performed in 14.2% of the procedures and microscopic abnormalities were common. Shorter residual bowel length, underlying diagnoses of non‐NEC, and GLP‐2 analog use were generally associated with successful pan‐enteroscopy, independent of age and several other factors. These data suggest that pan‐enteroscopy is feasible and of high‐yield in a subset of patients with SBS.
Multisystem inflammatory syndrome in children presenting as acute severe necrotizing pancreatitis: A case report
Authors: Distel Hanna , Hutchins Kelley , Purohit Prashant J. , Bégué Rodolfo E. 
Published: July 2024

AbstractWe report a case of moderately severe acute pancreatitis, hyperglycemia, acidosis, splenic, superior mesenteric, and portal vein thrombosis in relation to multisystem inflammatory syndrome in children (MIS‐C). The patient responded well to intravenous immune globulin, corticosteroids, antibiotics, systemic anticoagulation, and drainage of peripancreatic fluid. The case highlights the polymorphic presentation of MIS‐C and advises high level of suspicion for unusual, severe cases unresponsive to routine care.
Genetic analysis of popping quality traits and development of superior quality popcorn hybrids for a sustainable popcorn breeding program in India
Authors: Gopinath Ikkurti , Hossain Firoz , Zunjare Rajkumar U , Thambiyannan Selvakumar , Kumar Santosh , Bhatt Vinay , Chand Gulab , Veluchamy Sathya Sheela KR , Kumar Bhupender , Sekhar Javaji C. , Singh Gyanendra , Rajasekaran Ravikesavan , Muthusamy Vignesh 
Published: July 2024

AbstractBACKGROUNDPopcorn is the most popular specialty maize and it makes a significant contribution to the Indian and global economies. Despite perfect exploration of heterosis in field corn, progress in popcorn breeding remains constrained due to its narrow genetic base, leading to a significant dependence on imports. In this study, 15 landrace‐ and population‐derived inbreds from temperate and tropical germplasm were crossed with five testers, which are the parents of superior popcorn hybrids, in a line × tester mating design.RESULTSSignificant variation was observed in popping quality and agronomic traits among crosses evaluated across three locations representing diverse maize‐based agro‐climatic zones in India. Additive genetic variance governed the traits related to popping quality, whereas dominance variance was responsible for the agronomic traits. In addition to significant heterosis specific to certain traits, we identified promising crosses that exhibited superior performance in both popping quality and grain yield (GY). The genotype + genotype × environment (GGE) biplot methodology identified PMI‐PC‐104 and PMI‐PC‐101 as the best discriminating testers for popping quality traits and Dpcl‐15‐90 for GY. Lines PMI‐PC‐205, PMI‐PC‐207, and PMI‐PC‐209 were the best general combiners for popping quality traits and GY. The heterotic groups identified based on GGE‐biplots and the magnitude, direction and stability of combining ability effects would serve in the development of competitive popcorn hybrids for a sustainable popcorn market.CONCLUSIONUsing the additive nature of popping quality traits and the dominant nature of GY, recurrent intrapopulation selection can be employed to derive desirable popping quality inbreds with high GY for genetic enhancement. Desirable popping quality alleles from novel germplasm can thus be combined with high‐yielding domestic elite inbreds to establish a sustainable popcorn breeding program. © 2024 Society of Chemical Industry.
Advancing jasmine tea production: YOLOv7‐based real‐time jasmine flower detection
Authors: Zhou Hanlin , Luo Jianlong , Ye Qiuping , Leng Wenjun , Qin Jingfeng , Lin Jing , Xie Xiaoyu , Sun Yilan , Huang Shiguo , Pang Jie 
Published: July 2024

AbstractBackgroundTo produce jasmine tea of excellent quality, it is crucial to select jasmine flowers at their optimal growth stage during harvesting. However, achieving this goal remains a challenge due to environmental and manual factors. This study addresses this issue by classifying different jasmine flowers based on visual attributes using the YOLOv7 algorithm, one of the most advanced algorithms in convolutional neural networks.ResultsThe mean average precision (mAP value) for detecting jasmine flowers using this model is 0.948, and the accuracy for five different degrees of openness of jasmine flowers, namely small buds, buds, half‐open, full‐open and wiltered, is 87.7%, 90.3%, 89%, 93.9% and 86.4%, respectively. Meanwhile, other ways of processing the images in the dataset, such as blurring and changing the brightness, also increased the credibility of the algorithm.ConclusionThis study shows that it is feasible to use deep learning algorithms for distinguishing jasmine flowers at different growth stages. This study can provide a reference for jasmine production estimation and for the development of intelligent and precise flower‐picking applications to reduce flower waste and production costs. © 2024 Society of Chemical Industry.
Tourism potential of Eastern Partnership countries—Issues multidimensional comparative analysis
Authors: Klóska Rafał , Oleksiuk Adam 
Published: July 2024

AbstractTourism is an important sector for economic development, also in regions such as the Eastern Partnership countries (EaP), which include Armenia, Azerbaijan, Belarus, Georgia, Moldova, and Ukraine. The paper presents a multidimensional comparative analysis of the tourism potential of these countries. The article emphasized the importance of taxonomic methods in regional studies, which are widely used for spatial management analysis and diagnosis. This study, given the great applicability of taxonomic methods in regional studies, employs the well‐known procedure and statistical package Statistica. The emphasis, is on certain decisions that, when quantitatively approaching this type of issue, an informed researcher must make. These are decisions of both substantive and methodological character that will allow to approach with due weight the results obtained in consequence of the applied software. The article discusses the importance of the development of tourism infrastructure and digital society for the tourism potential of the Eastern Partnership countries.
Effect of High‐Intensity Focused Ultrasound on Different Types of Adenomyosis Based on Magnetic Resonance Imaging Classification
Authors: Liu Ruiqian , Hao Hongqiang , Yin Yan , Chen Liang , Liu Yang 
Published: July 2024

ObjectiveWe aimed to analyze the effect of high‐intensity focused ultrasound (HIFU) on different types of adenomyosis (AM) based on magnetic resonance imaging (MRI) classification.MethodsA total of 206 AM patients who underwent HIFU between January 2017 and December 2021 were included in this retrospective study. The size and location of AM were evaluated based on T2‐weighted imaging (T2WI) of MRI. Patients were divided into internal (subtype I), external (subtype II), intramural (subtype III), and full‐thickness (subtype IV) AM groups. All patients underwent an MRI examination before and one day after HIFU. After ultrasound‐guided HIFU ablation, the parameters of ultrasonic energy input during HIFU treatment among different groups were recorded and compared. The adverse reactions and complications among different groups were compared.ResultsThe lesion volume in the subtype IV group was significantly larger than the subtype II and III groups (P < .05). The HIFU irradiation time, treatment time, and total energy input in the subtype IV group were significantly higher than the subtype I and III groups (P < .05). The number of cases of abdominal pain and vaginal fluid in the treatment area in the subtype IV group was significantly higher than in the subtype II group.ConclusionAlthough HIFU has different treatment strategies and parameters for different subtypes of AM, it can achieve a satisfactory ablation rate, which is safe and effective.
Use or abuse of trophy hunting for conservation genomics?
Authors: Klinga Peter , Pečnerová Patrícia , Blaxter Mark , Höglund Jacob 
Published: July 2024

AbstractNovel genomic tools can yield information important for the conservation of threatened species. Remains of hunted individuals may provide important genomic information; however, the ethics of using remains of hunted animals for conservation research, especially remains of trophy‐hunted animals, is controversial. While there are ongoing political discussions considering blanket bans on the import and use of trophy‐hunted specimens, the consequences of such bans for conservation science have not been broadly discussed. Should conservation science accept samples acquired through legal trophy hunting? We investigate the ethical and practical considerations surrounding the use of biological samples acquired through legal trophy hunting. We propose that trophy‐hunted specimens should not be banned from conservation genomic research. Specimens from hunting could contribute to science and conservation genomic monitoring of wildlife and provide information for biodiversity management.
Morphology Engineering Enabled Mid‐Infrared Ultra‐Dense Waveguide Array with Low Crosstalk
Authors: Li Ting , Zhang Hong , Zhou Peiji , Lin Yucheng , Sun Yuhan , Liu Yuheng , Xu Xiaochuan , Zou Yi 
Published: July 2024

AbstractThe mid‐infrared (MIR) band holds significant promise in various fields, including thermal imaging, spectroscopy sensing, infrared countermeasures, and free‐space communication, due to its distinctive characteristics. Despite substantial efforts that have been dedicated to building on‐chip photonic integrated circuits for MIR, enabling system miniaturization and broadening application scopes, the challenge of crosstalk among closely packed waveguides persists, hampering improvements in integration density and device performance. Here, a morphology engineering approach is proposed to tailor coupling and suppress crosstalk within a densely arranged waveguide array. These results demonstrate that by introducing a periodic Bezier curve to adorn the waveguide trajectory, coherent coupling can be disrupted, isolating each waveguide and minimizing crosstalk in the array. An experimentally demonstrated eight‐channel waveguide array with a half‐wavelength pitch operating at 3.55 µm exhibits crosstalk suppression exceeding −29 dB, representing an 8 dB improvement compared to a sinusoidal trajectory. This methodology, offering precise control of on‐chip light guiding, coupling, and routing, provides a promising perspective for high‐density design in photonic integrated circuits at MIR.
Heterovalent Zr4+/Nb5+‐Cosubstituted Negative Thermal Expansion Luminescent Materials with Anti‐Thermal Quenching Luminescence
Authors: Fu Biao , Yan Haokun , Li Renfu , Feng Liuzhen , Yu Yiqi , Gong Guoliang , Huang Haiping , Liao Jinsheng 
Published: July 2024

AbstractRare earth luminescent materials based on negative thermal expansion (NTE) have achieved thermally enhanced photoluminescence, but these materials typically exhibit relatively weak luminescence intensity at room temperature. In this work, adopting the cationic heterovalent substitution strategy, a series of Sc2‐2xZrxNbxW3‐1.5xO12‐3x:Yb/Er (SZNWOx:Yb/Er) phosphors are prepared by solid‐state reaction. With the increase of x value, the substitution of Sc3+ by Zr4+/Nb5+ leads to a decrease in the local symmetry of Er3+. Compared with Sc2W3O12:Yb/Er (SWO:Yb/Er), this heterovalent substitution strategy significantly improves the luminescence intensity of SZNWOx:Yb/Er while retaining its anti‐thermal quenching luminescence and negative thermal expansion properties. By comparing and analyzing the temperature dependent temperature‐dependent steady‐state/transient spectra of SZNWO0.10:Yb/Er and SWO:Yb/Er phosphors, the anti‐thermal quenching mechanism is discussed from a new perspective. The luminescence intensity ratio (LIR) of the thermal coupled levels (TCL) of Er3+(2H11/2/4S3/2) is adopted for optical temperature sensing, achieving a maximum absolute sensitivity of 1.04% K−1 at 464 K and a maximum relative sensitivity of 1.08% K−1 at 298 K for the SZNWO0.10:Yb/Er phosphors. Finally, the potential applicability using the constructed flexible thin film to real‐world sensing scenarios is demonstrated, offering accurate and real‐time temperature monitoring at the local hotspot in the electronic component of the CPU chip.
Influence of Friction Properties Between Non‐Smooth Surface GFER and 316L Stainless Steel Under Seawater Lubrication and Simulation Research
Authors: Wu Shaofeng , Xu Hongrui , Guo Jian , Wang Zhiqiang , Gao Dianrong 
Published: July 2024

ABSTRACTIn this paper, the friction properties of the port pair with non‐smooth surface in the pump were studied. The lubrication film was modelled and simulated to analyse dynamic pressure, velocity vector and friction coefficient. Tests were made for studying the effects of pit shape and revolution speed on friction properties of glass fibre epoxy resin (GFER) samples under seawater lubrication, with the wear of the surface and friction coefficient discussed. The results show that GFER is mainly manifested as adhesive and abrasive wear during the tests. The simulations and tests suggest that the hydrodynamic lubrication effect is improved by increasing revolution speed and using non‐smooth surfaces, with the friction coefficient being decreased. Moreover, a roughness test was conducted, and it was found that the Ra value of the 316L sample decreased, whereas the Ra value of the GFER sample increased.