bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
Authors: Liang Huan , Zhan Xia , Wang Yu , Maegawa Gustavo H. B. , Zhang Huiwen 
Published: December 2023

AbstractHundreds of NPC1 variants cause highly heterogeneous phenotypes. This study aims to explore the genotype–phenotype correlation of NPC1, especially for missense variants. In a well‐characterized cohort, phenotypes are graded into three clinical forms: mild, intermediate, and severe. Missense residue structural location was stratified into three categories: surface, partially, and fully buried. The association of phenotypes with the topography of the amino acid substitution in the protein structure was investigated in our cohort and validated in two reported cohorts. One hundred six unrelated NPC1 patients were enrolled. A significant correlation of genotype–phenotype was found in 81 classified individuals with two or one (the second was null variant) missense variant (p < 0.001): of 25 patients with at least one missense variant of surface (group A), 19 (76%) mild, six (24%) intermediate, and none severe; of 31 cases with at least one missense variant of partially buried without surface variants (group B), 11 (35%) mild, 16 (52%) intermediate, and four (13%) severe; of the remaining 25 patients with two or one buried missense variants (group C), eight (32%) mild, nine (36%) intermediate, and eight (32%) severe. Additionally, 7‐ketocholesterol, the biomarker, was lower in group A than in group B (p = 0.024) and group C (p = 0.029). A model was proposed that accurately predicted phenotypes of 72 of 90 (80%), 73 of85 (86%), and 64 of 69 (93%) patients in our cohort, Italian, and UK cohort, respectively. This study proposed a novel genotype–phenotype correlation in NPC1, linking the underlying molecular pathophysiology with clinical phenotype and aiding genetic counseling and evaluation in clinical practice.
Eyewitness identifications based on biased or unbiased line‐up instructions after a realistic and violent hostage simulation
Authors: Nyman Thomas J. , Cappa Giulia , Zappalà Angelo , Santtila Pekka 
Published: December 2023

AbstractFew earlier studies have investigated the effects of highly stressful, realistic, violent, and threatening scenarios on eyewitness identification accuracy in an ecologically valid setting. The majority of studies have relied on laboratory‐based simulated (videos/images) experiments. The present study investigated line‐up accuracy approximately 1 week after a hostage simulation event. We administered biased line‐up instructions to 50% of participants to investigate how this impacted choosing behaviour and accuracy. Based on 1030 line‐up decisions (N = 122), we found that average accuracy was 38% in target present (TP) and 54% in target absent (TA) line‐ups and that biased line‐up instructions decreased overall accuracy (vs. unbiased). The hit rate for TP line‐ups with biased instructions was 0.43 (unbiased instructions: 0.33), while the false alarm rate for TA line‐ups with biased instructions was 0.60 (unbiased instructions: 0.32). We found that high confidence was associated with correct identifications and that shorter response times were indicative of correct rejections. Our findings demonstrate, in a more realistic scenario than the majority of eyewitness identification studies, the effect that biased line‐up instructions lead to increased choosing and decreased accuracy.
Tumor Multiregional Mean Apparent Propagator (MAP) Features in Evaluating Gliomas—A Comparative Study With Diffusion Kurtosis Imaging (DKI)
Authors: Zeng Shanmei , Ma Hui , Xie Dingxiang , Huang Yingqian , Yang Jia , Lin Fangzeng , Ma Zuliwei , Wang Mengzhu , Yang Zhiyun , Zhao Jing , Chu Jianping 
Published: December 2023

BackgroundGlioma classification affects treatment and prognosis. Reliable imaging methods for preoperatively evaluating gliomas are essential.PurposeTo evaluate tumor multiregional mean apparent propagator (MAP) features in glioma diagnosis and to compare those with diffusion‐kurtosis imaging (DKI).Study TypeRetrospective study.Subjects70 untreated glioma patients (31 LGGs (low‐grade gliomas), 34 women; mean age, 47 ± 12 years, training (60%, n = 42) and testing cohorts (40%, n = 28)).Field Strength/Sequence3‐T, diffusion‐MRI using q‐space Cartesian grid sampling with 11 different b‐values.AssessmentTumor multiregional MAP (mean squared displacement (MSD); q‐space inverse variance (QIV); non‐Gaussianity (NG); axial/radial non‐Gaussianity (NGAx, NGRad); return‐to‐origin/axis/plane probability (RTOP, RTAP, and RTPP)); and DKI metrics (axial/mean/radial kurtosis (AK, MK, and RK)) on tumor parenchyma (TP) and peritumoral areas (PT) in histopathologically gliomas grading and genotyping were assessed.Statistical TestsMann–Whitney U; Kruskal–Wallis; Benjamini–Hochberg; Bonferroni‐correction; receiver operating curve (ROC) and area under curve (AUC); DeLong's test; Random Forest (RF). P value<0.05 was considered statistically significant after multiple comparisons correction.ResultsCompared with LGGs, MSD, and QIV were significantly lower in TP, whereas NG, NGAx, NGRad, RTOP, RTAP, RTPP, and DKI metrics were significantly higher in HGGs (high‐grade gliomas) (P ≤ 0.007), as well as in isocitrate‐dehydrogenase (IDH)‐mutated than IDH‐wildtype gliomas (P ≤ 0.039). These trends were reversed for PT (tumor grades, P ≤ 0.011; IDH‐mutation status, P ≤ 0.012). ROC analysis showed that, in TP, DKI metrics performed best in TP (AUC 0.83), whereas in PT, RTPP performed best (AUC 0.77) in glioma grading. AK performed best in TP (AUC 0.77), whereas MSD and RTPP performed best in PT (AUC 0.73) in IDH genotyping. Further RF analysis with DKI and MAP demonstrated good performance in grading (AUC 0.91, Accuracy 82%) and IDH genotyping (AUC 0.87, Accuracy 79%).Data ConclusionTumor multiregional MAP features could effectively evaluate gliomas. The performance of MAP may be similar to DKI in TP, while in PT, MAP may outperform DKI.Level of Evidence4Technical EfficacyStage 2
Seroepidemiology study of rubella virus antibodies among neonates and pregnant women at hospitals in Henan province, China
Authors: Wang Xiangpeng , Han Yu , Li Changhui , Wang Mengshi , Yang Beibei , Zhang Xiaoqin , Zhao Lijun 
Published: December 2023

AbstractRubella virus infection can cause vertical transmission to the fetus during pregnancy. In China's Henan province, rubella surveillance needs to be well‐established. In this research, a total of 1933 neonates and 2502 pregnant women were enrolled, and their sera for IgG and IgM antibodies against rubella were tested by chemiluminescence assay. Of 1933 neonates' sera tested, the seropositive of rubella IgG was 68.7%. The seroprevalence of rubella IgM in neonates was 0.4%. 30.9% of neonates had negative results for IgG and IgM antibodies. Two thousand five hundred and two pregnant women participated in the serosurvey, and 79.3% were rubella IgG positive. Rubella IgG seropositivity in pregnant women differed by age and number of births. 0.8% of the pregnant women had positive results for IgM against the rubella virus. The seronegative of rubella IgG and IgM antibodies in pregnant women was 19.8%. Due to the negative rubella‐specific IgG antibody, many neonates remain at risk of rubella virus infection. Rubella virus continues to spread since some neonates and pregnant women with rubella‐specific IgM antibody positive have been detected. Rubella vaccination may be introduced for childbearing‐age women to increase immunity levels against rubella with periodic sero‐surveillance.
Factors associated with prolonged viral shedding of SARS‐CoV‐2 Omicron variant infection in Shanghai: A multicenter, retrospective, observational study
Authors: Liu Wenbin , Gong Fangchen , Zheng Xiangtao , Pei Lei , Wang Xiaofeng , Yang Song , Zhao Shanzhi , Yang Zhitao , Lin Jingsheng , Jing Feng , Shang Hanbing , Bi Yufang , Wei Dong , Chen Erzhen , Chen Ying 
Published: December 2023

AbstractShanghai has faced an unprecedented COVID‐19 pandemic with the BA.2.2 strain of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) Omicron infection. Comprehensive insights into its epidemiology, clinical manifestations, and viral shedding dynamics are currently limited. This study encompasses 208373 COVID‐19 patients that were infected with the Omicron BA.2.2 sub‐lineage in Shanghai, China. Demographic information, clinical symptoms, vaccination status, isolation status, as well as viral shedding time (VST) were recorded. Among the COVID‐19 patients included in this study, 187124 were asymptomatic and 21249 exhibited mild symptoms. The median VST was 8.3 days. The common clinical symptoms included fever, persistent cough, phlegm, sore throat, and gastrointestinal symptoms. Factors such as advanced age, presence of comorbidities, mild symptomatology, and delayed isolation correlated with extended VST. Conversely, female gender and administration of two or three vaccine doses correlated with a reduction in VST. This investigation offers an in‐depth characterization and analytical perspective on Shanghai's recent COVID‐19 surge. Prolonged viral shedding of SARS‐CoV‐2 was observed in elderly, male, symptomatic patients, and those with comorbidity. Female, individuals with two or three vaccine doses, as well as those isolated early, shows an effective reduced VST.
Differential correlates of prolonged grief and depression after bereavement in a population‐based sample
Authors: Bağcaz Arda , Kılıç Cengiz 
Published: December 2023

AbstractBereavement can lead to prolonged grief disorder (PGD) as well as episodes of major depression. Studies on the prevalence of PGD and its differences from postbereavement depression have not been conclusive. This study compared the correlates of depression and prolonged grief (PG) symptoms in a population‐based random sample (N = 535) using the Beck Depression Inventory, Inventory of Complicated Grief–Revised, Anxiety Sensitivity Index (ASI), and Adult Separation Anxiety Questionnaire (ASAQ). Correlates of PG and depressive symptoms were examined using linear regression in 328 bereaved respondents. The prevalence of probable PGD based on PGD‐2009 criteria was 3.0% among bereaved respondents and 1.9% in the total sample. PG was related to bereavement‐related features including sex of the deceased, β = − .110, p = .026; time since loss, β = − .179, p = .001; the number of lifetime losses experienced, β = .157, p = .016; and perceived closeness with the deceased, β = .214, p < .001. Only lower income of the bereaved predicted depression, β = − .139, p = .018. In women, but not in men, the loss of a male family member (i.e., brother or son) was a significant predictor of PG symptoms, β = − .180, p = .006. The results confirm the qualitative distinction between depression and PG in a nonclinical sample and show that PG is mainly related to the intrinsic and extrinsic characteristics of the deceased or of death, whereas depression relates only to the characteristics of the bereaved person.
Line‐field confocal optical coherence tomography for in vivo visualization of morphological characteristics of squamous cell carcinoma in a murine model
Authors: Olesen Uffe H. , Foged Camilla , Jacobsen Kevin , Ortner Vinzent K. , Fredman Gabriella , Paasch Uwe , Haedersdal Merete 
Published: December 2023

AbstractObjectivesNon‐invasive imaging with line‐field confocal optical coherence tomography (LC‐OCT) can support the diagnosis of squamous cell carcinoma (SCC) through visualization of morphological characteristics specific to skin cancer. We aimed to visualize prominent morphological characteristics of SCC using LC‐OCT in a well‐established murine SCC model.Materials and MethodsNine hairless mice were exposed to ultraviolet radiation three times weekly for 9 months to induce SCC development. Visible SCC tumors (n = 9) were imaged with LC‐OCT and the presence of 10 well‐described morphological characteristics of SCC were evaluated in the scans by two physicians with adjudication by a third.ResultsOverall, murine morphological characteristics resembled corresponding features previously reported in human SCCs. Interrupted dermal‐epidermal junction occurred in 100% of tumors. In epidermis, the most frequently observed characteristics were severe epidermal dysplasia (100%) and tumor budding (89%). Common dermal characteristics included broad strands (100%) and collagen alterations (78%).ConclusionLC‐OCT imaging can be used to non‐invasively visualize morphological characteristics specific to SCC in an in vivo preclinical model.
Morphological design of PDVB‐based particles
Authors: Freese Silvia , Glasser Gunnar , Susewind Moritz , Lieberwirth Ingo , Hofe Thorsten , Jonas Ulrich 
Published: December 2023

AbstractPolymeric microspheres with complex architectures find application as stationary phases for size exclusion separation, solid supports for surface reactions, catalysis, and delivery systems. The microparticles are commonly made from divinylbenzene by precipitation polymerization or template swelling. Upon combining both methods and applying photopolymerization, we discovered new morphological features that are not solely explicable by the individual processes. Firstly, three types of templates were synthesized by precipitation polymerization: noncrosslinked, slightly crosslinked, and slightly crosslinked with noncrosslinked polystyrene fractions. All template types were swollen with divinylbenzene, which was polymerized by photoinitiation, followed by template extraction. Changes in particle size were tracked by light microscopy, while SEM revealed submicron features like hollow cores, toluene‐insoluble walls, and surface grooves from the collapse upon drying of the toluene‐swollen corona. Our investigations indicated that the corona results from chain transfer and crosslinking of the template during photoinitiation. Higher precrosslinking of the template reduced the core cavity volume of the extracted particle, while more mobile polystyrene chains led to larger cavities. These architectures are promising model systems for fundamental studies of particle interactions, aggregation, and structure formation in the field of colloidal physics.
Favourite places for outdoor recreation: Weak correlations between perceived qualities and structural landscape characteristics in Swedish PPGIS study
Authors: Stoltz Jonathan , Lehto Carl , Hedblom Marcus 
Published: December 2023

Abstract

Connections between outdoor recreation and various health and well‐being benefits are well established. However, questions remain regarding which landscape characteristics that best predict places in the landscape that correspond to people's needs and preferences. The perceived sensory dimensions (PSDs) model proposes eight basic perceived qualities that people commonly seek in outdoor environments to support complementary needs: a Natural, a Cultural, a Cohesive, a Diverse, a Sheltered, an Open, a Serene and a Social quality respectively.

These PSDs have increasingly been suggested as a tool for green space assessment and planning. How strongly they correlate with objective landscape characteristics is, however, still an open question. We surveyed recreationists in Sweden, tasking them with noting their favourite places on a map (n = 275), and to report the degree to which the PSDs were present. The qualities typically reported as most prominent at these places were Open, Serene and Sheltered, while the least prominent were Social and Cultural.

A cluster analysis further revealed that favourite places could be classified into two main groups regarding perceived qualities. One associated with presumably more restorative qualities, emphasising Natural and Serene settings, the other instead suggesting a more outward‐directed experience, strong in the perceived Social and Cultural dimensions.

Machine learning models, however, revealed weak links between objective landscape characteristics and perceived qualities, with stronger correlations found with attributes connected to personal characteristics, such as the degrees to which a person identifies as nature or urban oriented.

Although largely confirming the basic relations between the PSDs suggested by earlier studies, our results cast some doubt on the way they often have been understood and used, as describing an ‘objective’ truth of places, rather than representing qualities that largely emanate from the individual experience. Our results instead confirm previous reports of weak general links between objective landscape measures and perceived qualities.

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Study on selective emitter fabrication through an innovative pre‐diffusion process for enhanced efficiency in TOPCon solar cells
Authors: Chen Wenhao , Liu Weiqing , Yu Yuanyuan , Ke Yiping , Wan Yimao 
Published: December 2023

AbstractTOPCon (tunnel oxide passivated contact) solar cell is the mainstream high‐efficiency crystalline silicon solar cell structure. However, the lack of efficient passivation contact mechanisms on the front surface restricts the electrical performance ability to improve further. Selective emitter (SE) technology, considered a potential solution, needs to be more mature. This work provides a unique thermal pre‐diffusion approach combined with laser treatment and post‐oxidation annealing to create SE structures in TOPCon solar cells. Times for the high‐temperature process are equivalent to those for a traditional homogenous emitter. The innovative thermal pre‐diffusion process created a unique boron doping profile, achieving a high surface concentration of nearly 1 × 1020 cm−3 with a shallow junction depth of approximately 0.25 μm. Laser treatment further activated boron and facilitated its diffusion, influenced by the boron silicate glass layer and surface boron atoms. Adjustments were made to improve the pre‐diffusion recipe, including an additional boron deposition step, increasing non‐activated boron atoms. Introducing larger pyramidal microstructures also improved the junction depth and surface concentration in the heavily doped region. Compared to homogeneous emitters, the SE structures exhibited lower surface concentration in the lightly doped region, reducing the recombination current density in the passivation region J0,pass values. The SE structures achieved higher junction depths, limiting metal atom diffusion and reducing the current recombination density in the metal contact region J0,metal values. The contact resistivity between metal and silicon was also decreased. Overall, introducing SE structures resulted in a batch‐average efficiency improvement of 0.26%, reaching an average efficiency of 25.22% for TOPCon solar cells, and has industrial mass‐producible.
Caregiver education before hospital discharge for children on home‐invasive mechanical ventilation
Authors: Zirek Fazılcan , Çobanoğlu Nazan 
Published: December 2023

AbstractChildren on home invasive mechanical ventilation necessitate specialized equipment, continuous monitoring, and multidisciplinary care. Transitioning these children from hospital to home care is complex, demanding careful planning. Guidelines and observational studies emphasize the importance of a standardized, comprehensive, and staged educational approach for caregiver education in discharge planning, yet program variations persist, lacking standardized checklists. This review aims to offer insights into crucial factors for a successful transition from hospital to home care for children using home‐invasive mechanical ventilation while also developing comprehensive caregiver checklists to ensure high‐quality care, taking into account families' socioeconomic status.
Lung ultrasound scores within the first 3 days of life to predict respiratory outcomes
Authors: Aliyev Ferid , Kayki Gozdem , Annakkaya Kocyigit Tutku , İyigun İrem , Yigit Sule 
Published: December 2023

AbstractBackroundLung ultrasound (LUS) is a rapid and simple method to evaluate preterm babies with respiratory distress. Lately, LUS has also been reported as an accurate predictor for bronchopulmonary dysplasia (BPD).ObjectivesThe aim of the study was to investigate the relationship between the LUS scores within the first 3 days of life and respiratory outcomes including the need and the duration of invasive mechanical ventilation, and development of BPD.MethodsIt was a retrospective observational study. Preterm infants younger than 32 weeks were included at an academic tertiary Neonatal Intensive Care Unit between 2018 and 2023. LUS was performed within the first 3 days. Each lung was divided into three regions and defined as a score of 0 to 3 points; the total score was obtained by adding the six regional scores. LUS scores were noted in two groups as the highest and lowest scores. Statistical analyses were done to predict respiratory outcomes.ResultsTotal 218 patients were enrolled; 40, 17, and 18 infants had mild, moderate, and severe BPD, respectively. BPD did not develop in 143 patients. Within the first 3 days, the highest and lowest LUS scores significantly predicted moderate‐to‐severe BPD (p < .001) (area under receiver operating characteristic [ROC] curve, 0.684–0.913; area under ROC curve 0.647–0.902; respectively). High LUS scores were also related with the need of mechanical ventilation (p < .001). There was not a significant correlation between the duration of mechanical ventilation and the LUS scores. Regression analysis revealed that the highest LUS scores within the first 3 days of life, sepsis, and the presence of hemodynamically significant patent ductus arteriosus (hsPDA) were significantly associated with the severity of BPD.ConclusionsIn preterm babies, the LUS scores were useful to predict BPD and the need of invasive ventilation in long term. However, it was not related with the length of invasive ventilation.
Interstitial lung disease as an indication for pediatric lung transplant
Authors: Kuklinski Cadence A. , Blatter Joshua A. 
Published: December 2023

AbstractInterstitial lung disease can be an indication for lung transplant at any age, but it is a particularly common indication for lung transplant in infants. Nevertheless, not all interstitial lung diseases will lead to lung transplant in childhood. Genetic testing has aided the identification of these diseases in children. In severely affected patients, however, definitive diagnosis is not always necessary to consider referral to a transplant center. At experienced transplant centers, a multidisciplinary team educates patient families and aids in the transplant evaluation of children with interstitial lung disease. Children who have undergone transplant require lifetime immunosuppression and close surveillance, but can enjoy good quality of life for years following surgery.