bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
Authors: Zhang Qianwen , Ding Yu , Feng Biyun , Tang Yijun , Chen Yao , Wang Yirou , Chang Guoying , Liu Shijian , Wang Jian , Li Qian , Fu Lijun , Wang Xiumin 
Published: February 2022

Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by the Chinese Smell Identification Test and facial pattern was analyzed with Face2gene. Fifty ALMS patients were included in this study, aged from 0.3 to 21.7 years old. Sixty-one ALMS1 variants in 50 patients from 47 different families were confirmed, including 59 truncating and two exon deletions. Twenty-four of those variants were novel. We also summarized all previously reported cases of Chinese ALMS patients (69 patients) and identified specific and common variants within the Chinese population. Besides, the Chinese Smell Identification Test scores in patients was lower than that in controls (11.97 Vs. 10.44, p &lt; .05), indicating olfactory identification impairments in ALMS patients. The facial pattern in ALMS patients was also distinctive from that of the controls (p &lt; .05). In conclusion, this is the largest cohort of Chinese ALMS patients. We have successfully identified both specific and common variants in our cohort. We found a new phenotype of olfactory impairments in ALMS patients through a case-control study.
Mutation of MUC16 Is Associated With Tumor Mutational Burden and Lymph Node Metastasis in Patients With Gastric Cancer
Authors: Zhang Fengxiang , Li Xianzhe , Chen Huaxian , Guo Jianping , Xiong Zhizhong , Yin Shi , Jin Longyang , Chen Xijie , Luo Dandong , Tang Haijie , Mao Chaobin , Lian Lei 
Published: February 2022

BackgroundLymph node metastasis (LNM) is a critical factor in determining the prognosis of gastric cancer (GC), but its underlying mechanism remains unclear. The tumor mutational burden (TMB) has recently been recognized as a biomarker for predicting prognosis and response to immune checkpoint inhibitors, while mucin 16, cell surface associated (MUC16) is frequently mutated in GC. This study explored whether MUC16 mutation status is associated with TMB, LNM, and prognosis in patients with GC.MethodsSomatic mutation data were downloaded from three GC cohorts. TMB values were calculated and associations between the TMB and clinical characteristics were analyzed. The mutational landscapes of these three GC cohorts were individually explored and visualized using waterfall diagrams. Univariate logistic regression and Kaplan-Meier survival analysis were performed to screen for mutated genes associated with LNM and overall survival (OS). Associations between MUC16 mutations and TMB, microsatellite instability (MSI), LNM, and tumor microenvironment signatures were explored.ResultsTMB was associated with LNM and OS in patients with GC. Analyzing the three GC cohorts (The Cancer Genome Atlas-Stomach Adenocarcinoma, International Cancer Genome Consortium [ICGC]-China, and ICGC-Japan) revealed that MUC16 was one of the most frequently mutated genes in patients with GC. MUC16 mutations were associated with better prognosis, including lower LNM rates and improved OS rates. In addition, MUC16 mutation status was associated with TMB and MSI statuses. Fifteen upregulated and 222 downregulated genes were identified in patients with MUC16 mutations, compared to in those in patients with wild-type MUC16. An altered tumor microenvironment signature was also identified in GC samples with MUC16 mutations; it was characterized by significantly decreased infiltration regarding stromal cells, CD4+ T cells, and macrophages.ConclusionMUC16 mutation status was associated with TMB, microsatellite status, LNM, and survival in patients with GC. These findings may provide new insights into the mechanism of LNM and could act as a signpost for prognostic predictions and immunotherapy guidance for patients with GC.
SEEG in 3D: Interictal Source Localization From Intracerebral Recordings
Authors: Satzer David , Esengul Yasar T. , Warnke Peter C. , Issa Naoum P. , Nordli Douglas R. 
Published: February 2022

BackgroundStereo-electroencephalography (SEEG) uses a three-dimensional configuration of depth electrodes to localize epileptiform activity, but traditional analysis of SEEG is spatially restricted to the point locations of the electrode contacts. Interpolation of brain activity between contacts might allow for three-dimensional representation of epileptiform activity and avoid pitfalls of SEEG interpretation.ObjectiveThe goal of this study was to validate SEEG-based interictal source localization and assess the ability of this technique to monitor far-field activity in non-implanted brain regions.MethodsInterictal epileptiform discharges were identified on SEEG in 26 patients who underwent resection, ablation, or disconnection of the suspected epileptogenic zone. Dipoles without (free) and with (scan) gray matter restriction, and current density (sLORETA and SWARM methods), were calculated using a finite element head model. Source localization results were compared to the conventional irritative zone (IZ) and the surgical treatment volumes (TV) of seizure-free vs. non-seizure-free patients.ResultsThe median distance from dipole solutions to the nearest contact in the conventional IZ was 7 mm (interquartile range 4–15 mm for free dipoles and 4–14 mm for scan dipoles). The IZ modeled with SWARM predicted contacts within the conventional IZ with 83% (75–100%) sensitivity and 94% (88–100%) specificity. The proportion of current within the TV was greater in seizure-free patients (P = 0.04) and predicted surgical outcome with 45% sensitivity and 93% specificity. Dipole solutions and sLORETA results did not correlate with seizure outcome. Addition of scalp EEG led to more superficial modeled sources (P = 0.03) and negated the ability to predict seizure outcome (P = 0.23). Removal of near-field data from contacts within the TV resulted in smearing of the current distribution (P = 0.007) and precluded prediction of seizure freedom (P = 0.20).ConclusionsSource localization accurately represented interictal discharges from SEEG. The proportion of current within the TV distinguished between seizure-free and non-seizure-free patients when near-field recordings were obtained from the surgical target. The high prevalence of deep sources in this cohort likely obscured any benefit of concurrent scalp EEG. SEEG-based interictal source localization is useful in illustrating and corroborating the epileptogenic zone. Additional techniques are needed to localize far-field epileptiform activity from non-implanted brain regions.
A Modified Microscopic-Endoscopic Bilateral Transseptal Approach for Pituitary Adenomas: Comparisons of Nasal Outcome and Quality of Life Using the Microscopic Transnasal Approach
Authors: Zhong Junjie , Gu Yanfang , Zheng Jie , Yang Bojie , Qi Zengxin , Li Tianwen , Shen Chao , Shi Zhifeng 
Published: February 2022

ObjectivesIn this study, we introduced a novel modified microscopic-endoscopic bilateral transseptal approach for pituitary adenoma resection to minimize surgery-related nasal injury. We also retrospectively compared comprehensive nasal outcomes and quality of life between the microscopic transnasal approaches.MethodsPatients with pituitary adenomas who underwent modified microscopic-endoscopic bilateral transseptal or microscopic transnasal approaches were assessed for olfactory function and quality of life using the Sniffin’ Sticks test, the Sino-Nasal Outcome Test-22 (SNOT-22), the SF-36, the anterior skull base (ASK) nasal inventory, and the subjective visual analog scale (VAS) before and 1 and 3 months after surgery. A nasal endoscopy procedure was also performed to evaluate structure abnormalities at 1 and 3 months after surgery.ResultsFifty-eight patients who underwent either modified microscopic-endoscopic bilateral transseptal (35 patients) or microscopic transnasal (23 patients) surgery were consecutively enrolled. Patients who underwent either transnasal approach experienced similar surgical complications, except for intraoperative cerebrospinal fluid leakage (43.5% vs 14.3% for modified microscopic-endoscopic bilateral transseptal or microscopic transnasal approach, respectively; p = 0.013). Patients who underwent the two approaches fully recovered according to the SF-36, SNOT-22, VAS, and Sniffin’ Sticks surveys, but not ASK scores, 3 months post-operatively. There was no significant difference in nasal endoscopy outcome at 3 months follow-up between the two approaches.ConclusionsThe modified microscopic-endoscopic bilateral transseptal approach showed largely similar nasal mucosa protective outcomes to those of the microscopic transnasal approach for pituitary adenoma surgery. After pituitary adenoma resection using the modified approach, patients’ postoperative olfactory function, nasal structure, and quality of life can be restored to preoperative status within 3 months.
Characteristics and Risk Factors of Children Requiring Prolonged Mechanical Ventilation vs. Non-prolonged Mechanical Ventilation in the PICU: A Prospective Single-Center Study
Authors: Liu Yanling , Wang Qingyue , Hu Jun , Zhou Fang , Liu Chengjun , Li Jing , Fu Yueqiang , Dang Hongxing 
Published: February 2022

BackgroundProlonged mechanical ventilation (PMV) has become an enormous challenge in intensive care units (ICUs) around the world. Patients treated with PMV are generally in poor health. These patients represent a select cohort with significant morbidity, mortality, and resource utilization. The status of children who have undergone PMV in China is unknown. Our goal is to investigate the prevalence and characteristics of pediatric patients with PMV, as well as the risk factors of PMV in the pediatric intensive care unit (PICU).MethodsThe subjects were divided into two groups. The PMV group(MV ≥ 14 days) and the non-PMV group(2 days &lt; MV &lt;14 days). The baseline characteristics, treatments, mortality and other results between the two groups were compared. The risk factors associated with PMV were evaluated using univariate and multivariable analyses.ResultsOf the 382 children enrolled, 127 (33.2%) received prolonged mechanical ventilation. The most common cause of MV in the PMV group was acute lung disease (48.0%), followed by acute circulatory system disease (26.0%), acute neurological disease (15.0%), postoperative monitoring (10.2%), and others (0.8%). Comorbidities were more prevalent among the PMV group (P = 0.004). The patients with PMV had a higher rate of premature birth (24.4 vs. 14.1%, P = 0.013) and higher PIM3 score at admission [5.6(3.0–9.9) vs. 4.1(1.7–5.5), P &lt; 0.001]. The use of inotropes/vasopressors (63.8 vs. 43.1%, P &lt; 0.001) was more common in patients with PMV compared with those in the non-PMV group. In the PMV group, the rate of extubation failure (39.4 vs. 6.7%, P &lt; 0.001) was higher than the non-PMV group. The median hospital stay [35(23.0–50.0)d vs. 20(14.0–31.0)d, P &lt; 0.001], PICU stay [22(15.0–33.0)d vs. 9(6.0–12.0)d, P &lt; 0.001], hospitalization costs [¥391,925(263,259–614,471) vs. ¥239,497(158,723–350,620), P &lt; 0.001], and mortality after 1-month discharge (22.0 vs. 1.6%, P &lt; 0.001) were higher in the PMV group. Multivariate analysis revealed that age &lt;1 year old, a higher PIM3 score at admission, prematurity, the use of inotropes or vasopressors, extubation failure, and ventilator mode on the first day of MV were associated with PMV.ConclusionsThe incidence and mortality of PMV in pediatric patients is surprisingly high. Premature infants or patients with severe disease or extubation failure are at higher risk of PMV. Patients with PMV exhibit a greater burden with regard to medical costs than those on non-PMV. It is important to establish specialized weaning units for mechanically ventilated patients with stable conditions.
The Safety and Efficacy of the Modified Single Incision Non-thoracoscopic Nuss Procedure for Children With Pectus Excavatum
Authors: Song Jishuo , Wang Quan , Pan Zhengxia , Wu Chun , Li Yonggang , Wang Gang , Dai Jiangtao , Xi Linyun , Li Hongbo 
Published: February 2022

BackgroundThis study described and evaluated the safety and efficacy of a modified single incision non-thoracoscopic Nuss procedure in pectus excavatum (PE) children.MethodsPE patients undergoing the non-thoracoscopic Nuss procedure at the Children's Hospital of Chongqing Medical University between January 2017 and December 2020 were retrospectively enrolled. The patients were divided into two groups according to operation procedures: the double incision Nuss (DN) group and the modified single incision Nuss (SN) group. Propensity score matching (PSM) was applied before evaluation of operative and postoperative characteristics to reduce selection bias.ResultsOf the 502 patients included, 261 were enrolled in the DN group, and 241 in the SN group. The operation time [35.0 (30.0–40.0) vs. 50.0 (40.0–55.0) minutes, P &lt; 0.001] and postoperative inpatient stay [7.0 (6.0–8.0) vs. 7.0 (7.0–8.0) days, P &lt; 0.001] of the patients in the SN group after PSM were significantly shorter than those of the patients in the DN group after PSM. Moreover, median blood loss was significantly less in the SN group after PSM than that in the DN group after PSM [2.0 (1.0–5.0) vs. 5.0 (2.0–5.0) ml, P &lt; 0.001]. There were no significant differences in the incidence of complications between the two groups (P &gt; 0.05). Bar removal was performed in 85 patients in the SN group within 24–42 months after surgery. Additionally, the SN group patients had a significantly lower Haller index (HI) after bar removal [2.36 (2.15–2.55) vs. 3.76 (3.18–4.26), P &lt; 0.001] compared to the initial HI.ConclusionsThe modified procedure is safe and effective for children with PE and is worthy of clinical application.
AI Models to Assist Vancomycin Dosage Titration
Authors: Wang Zhiyu , Ong Chiat Ling Jasmine , Fu Zhiyan 
Published: February 2022

Background: Effective treatment using antibiotic vancomycin requires close monitoring of serum drug levels due to its narrow therapeutic index. In the current practice, physicians use various dosing algorithms for dosage titration, but these algorithms reported low success in achieving therapeutic targets. We explored using artificial intelligent to assist vancomycin dosage titration.Methods: We used a novel method to generate the label for each record and only included records with appropriate label data to generate a clean cohort with 2,282 patients and 7,912 injection records. Among them, 64% of patients were used to train two machine learning models, one for initial dose recommendation and another for subsequent dose recommendation. The model performance was evaluated using two metrics: PAR, a pharmacology meaningful metric defined by us, and Mean Absolute Error (MAE), a commonly used regression metric.Results: In our 3-year data, only a small portion (34.1%) of current injection doses could reach the desired vancomycin trough level (14–20 mcg/ml). Both PAR and MAE of our machine learning models were better than the classical pharmacokinetic models. Our model also showed better performance than the other previously developed machine learning models in our test data.Conclusion: We developed machine learning models to recommend vancomycin dosage. Our results show that the new AI-assisted dosage titration approach has the potential to improve the traditional approaches. This is especially useful to guide decision making for inexperienced doctors in making consistent and safe dosing recommendations for high-risk medications like vancomycin.
Effect of 0.01% Atropine on Accommodation in Myopic Teenagers
Authors: Li Huixia , Zhang Liying , Tian Hong , Zhang Song , Zhang Xueyan , Zhang Han , Chen Yujing , Qi Wenping , Wu Xiaoying , Jiang Hongmei , Yang Hailong , Yang Yajun , Liu Lei , Zhang Guisen 
Published: February 2022

Purpose: The purpose of the study is to evaluate the effects of 0.01% atropine eye drops on accommodative system parameters among teenagers with low myopia.Methods: Ninety-five myopic teenagers [39 boys (8.69 ± 2.473) and 56 girls (8.54 ± 2.054) aged 5–17 years] with no history of eye disease were enrolled. Biometric and accommodative system parameters were evaluated before and at 1 week, 1 month, 3 months, and 6 months of 0.01% atropine eye drop instillation.Results: Participants without accommodative demand at 6 months demonstrated insignificant changes after the atropine instillation (all p &gt; 0.05). Nevertheless, there were significant differences in accommodative sensitivity, accommodative amplitude, accommodative responsiveness, and negative relative accommodation (NRA) at 3 months compared with baseline after atropine instillation (all p &lt; 0.05). Except spherical equivalent refraction, cornea thickness, intraocular pressure, and axial length were stable after the 0.01% atropine instillation (all p &gt; 0.05).Conclusion: Morphologically, current measurements suggested that 0.01% atropine had favorable reduction of accommodation for childhood low myopia over a half-year period.
The Function and Structure of Precuneus Is Associated With Subjective Sleep Quality in Major Depression
Authors: Ma Lu , Zhang Cun 
Published: February 2022

BackgroundPoor sleep quality is related to depression. However, the investigation of the neural basis for poor sleep quality in individuals with major depression (MD) is limited.MethodsResting state functional and structural MRI data were derived from 114 MD individuals and 74 normal controls (NCs). Fractional amplitude of low-frequency fluctuation (fALFF) and gray matter volume (GMV) were used to measure function and structure of the brain. Pittsburgh Sleep Quality Index (PSQI) was performed to evaluate subjective sleep quality. Correlations were carried out to investigate links of PSQI score with brain imaging indices in MD and NCs, separately. We also examined the differences in fALFF and GMV of brain regions related to PSQI score between MD and NCs.ResultsIn contrast to NCs, MD individuals had higher PSQI score. The higher PSQI score was associated with lower fALFF and lower GMV in bilateral precuneus in MD individuals. Moreover, the MD individuals exhibited increased fALFF in bilateral precuneus compared with NCs. However, the correlation between subjective sleep quality and neuroimaging parameters was not significant in NCs.ConclusionThe implication of these findings is that the function and structure of precuneus provides a neural basis for subjective poor sleep quality in MD. Understanding this may lead to better intervention of depression and associated sleep complaints.
Characterizing Potentially Preventable Hospitalizations of High-Cost Patients in Rural China
Authors: Lu Shan , Zhang Yan , Zhang Liang , Klazinga Niek S. , Kringos Dionne S. 
Published: February 2022

IntroductionHigh-cost patients are characterized by repeated hospitalizations, and inpatient cost accounts for a large proportion of their total health care spending. This study aimed to assess the occurrence and costs of potentially preventable hospitalizations and explore contributing factors among high-cost patients in rural China.MethodsWe examined a population-based sample of patients using the 2016 New Rural Cooperative Medical Scheme in Dangyang city, China. Eighteen thousand forty-three high-cost patients were identified. A validated tool and logistic regression analysis were used to determine preventable hospitalizations and their patient-level and supply-side factors.ResultsHigh-cost patients were older (average age of 54 years) than non-high-cost patients (50 years) and more likely to come from poverty-stricken families. The occurrence of preventable hospitalization was 21.65% among high-cost patients. The proportion of preventable inpatient cost in total inpatient and outpatient expenditure among high-cost patients (5.81%) was lower than that of non-high-cost patients (7.88%) but accounted for 75.87% of the overall preventable inpatient cost. High-cost patients with more hospitalizations were more likely to experience preventable hospitalization, and those with heart failure, COPD, diabetes and mixed conditions were at a higher risk of preventable hospitalization, while those with more outpatient visits were less likely to show preventable hospitalization.ConclusionsThe occurrence of preventable hospitalization among high-cost patients in rural China was sizeable. The preventable inpatient cost of the overall population was concentrated among high-cost patients. Interventions such as improving preventive care and disease management targeting high-cost patients within counties may improve patients' health outcomes and quality of life and reduce overall preventable inpatient cost.
Prevalence of COVID-19 Pandemic, Self-Esteem and Its Effect on Depression Among University Students in Saudi Arabia
Authors: Azmi Fatima M. , Khan Habib Nawaz , Azmi Aqil M. , Yaswi Arooj , Jakovljevic Mihajlo 
Published: February 2022

Background and AimsUniversity students are commonly identified as susceptible, suffering from higher anxiety, stress, and depression than the overall population. During the Corona Virus Disease pandemic (COVID), education was shifted to the virtual learning environment. Students' ambiguity regarding academic accomplishment, imminent careers, changes in social life, and other concerns all these factors played a role in amplifying their stress levels, anxiety, and depression worldwide. This study investigates university students' self-esteem and depressions after they have been online learning for over 1 year due to the COVID-19 pandemic in Saudi Arabia.MethodsFor this research, an adapted questionnaire of Rosenberg (Self-Esteem Scale) and Zung (Self-Rating Depression Scale) was used to get the responses of the participants of public and private universities in Saudi Arabia during March-April 2021. We received a total of 151 valid responses from respondents. For data analysis, we used descriptive statistics, ANOVA, multiple regression and binary logistic regression.FindingsThe results showed that 75% of the students experienced different levels of depressions, with half (37.5%) having moderate to extreme levels of depression. A total of 41% of students experienced low self-esteem (38% females and 45% males). The regression results indicated depressive symptoms for low self-esteem. Furthermore, results of logistic regression showed that high self-esteem reduces the chances of getting depressive symptoms by 17%. The depressive symptoms were higher in female students than their male counterparts; furthermore, males experienced depressive symptoms less than females by 38%.ConclusionsBased on the current research results, it is concluded that the presence of the COVID-19 pandemic has dramatically increased the depressive symptoms in students, especially in female students. The findings suggested instant consideration and support for students. It is also suggested to the quest for potential managing policies that have been known and effective during the pandemic. Moreover, training should be provided for students to shift their educational experience mindset to an adaptive mindset, which can help them adapt to the new ways of learning and education.