bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive analysis on expression profile and prognostic values of SYTs family members and their methylation in gastric cancer
Authors: Yang Mei-feng , Long Xing-xing , Hu Hong-sai , Bin Yu-ling , Wang Li-sheng , Yao Jun , Chen Xuan-ming , Wu Ben-hua , Li De-feng 
Published: February 2021

Abstract
Background: Synaptotagmins (SYTs) family members, consisting of 17 isoforms, paly crucial roles in the development and progression of human cancer. However, there is few studies on the expression and prognostic values of SYTs family in gastric cancer (GC). Methods: We comprehensively evaluate the expression, methylation, prognosis and immune significance of SYTs family members through bioinformatics analysis from the online databases in GC. Results: The expressions of SYT4, SYT9 and SYT14 were up-regulated, and negatively associated with their methylation levels in GC. Both SYT4, SYT9 and SYT14 overexpression and their hypomethylation levels contributed to unsatisfactory overall survival (OS) and progression-free survival (PFS) in GC. Moreover, the low expression levels of methylation cg sites (cg02795029, cg07581146, cg15149095, cg19922137, cg25371503, cg26158959, cg02269161, cg03226737, cg08185661, cg16437728, cg22723056 and cg24678137) were significantly correlated with unfavorable OS and PFS in GC. Furthermore, the expression of SYT4, SYT9 and SYT14 played a pivotal role in immune cells infiltration in GC. Conclusion: SYT4, SYT9 and SYT14 might be potent prognostic indictors and promising immunotherapy targets for the patients with GC.
Electronic Medical Record and Clinical Evaluation of Two Patient Cohorts at Risk of Hypophosphatasia: Family History is an Underutilized Tool to Diagnose Patients with Rare Disease
Authors: Peroutka Christina , Beck Natalie M , Gough Ethan , Marzinke Mark , Hoover-Fong Julie 
Published: February 2021

Abstract
Background: Family history (FH) is a powerful tool in screening and testing for chronic disease, oncologic conditions, and other genetic diagnoses, and is dependent upon observing patterns of features inherited across generations. Despite acceptance of FH as a fundamental part of a genetic medicine evaluation, there are limited data in other medical fields about its utility and benefit to patients. Methods: We evaluated two patient populations at-risk of a rare metabolic condition-- hypophosphatasia (HPP)—for the quality and quantity of FH data in their medical records. Population 1 was derived from patients seeking evaluation for a low bone density diagnosis at the Johns Hopkins Greenberg Center for Skeletal Dysplasias (GCSD); population 2 was identified through a targeted electronic medical record (EMR) query of low serum alkaline phosphatase (AP) measurements obtained through the Johns Hopkins Clinical Laboratory. Results: In population 1 (n = 38), 27 (71%) were confirmed to have HPP. Of these, 14 (52%) presented with FH information in the EMR from 3 or more family members, and in 4 (15%) FH was suggestive of HPP. In population 2 (n=348), a similar proportion of subjects had 3 or more family members mentioned in the EMR (183 or 53%), but only 3 subjects (1%) included sufficient detail to determine that the family history was suggestive of HPP. Notably, once all patients in population 1 completed a medical genetics evaluation and HPP was confirmed, 20 (74%) had probable affected family members identified through obtaining and analyzing a pedigree. After cascade testing was offered to these family members, 17 patients (71%) from population 1 had at least one family member with HPP confirmed at a molecular level. Conclusions: Based on these results, we propose that a full genetic medicine evaluation of those subjects from population 2 at highest risk of HPP would confirm HPP in many of them and identify similarly affected family members. We propose that taking a FH refines the diagnostic precision for patients with low bone density and identifies affected family members, and that HPP is likely more prevalent than previously thought.
Effect of the dose regimen on the serum amisulpride concentration and simulation of concentration reference ranges based on population pharmacokinetics
Authors: Li Lu , Li Lin , Huang Shan-Qin , Lu Hao-Yang , Xiao Tao , Chen Hong-Zhen , Xie Huan-Shan , Shang De-Wei , Wen Yu-Guan 
Published: February 2021

Abstract
Aims

This study aims to determine the factors associated the large variability and provided the concentrations reference ranges for different dose ranges.
Methods

A retrospective study was conducted in a psychiatric hospital. The factors associated with the serum amisulpride concentration were examined using multiple linear regression analysis. A comparison of serum amisulpride concentrations among different dose regimens was conducted via analysis of covariance. The amisulpride concentration range for different dosing regimens was simulated using the population pharmacokinetics of Chinese patients with schizophrenia using the Monte Carlo method.
Results

In total, 472 samples from 291 patients were examined to determine the factors associated with amisulpride concentrations. Multiple linear regression analysis indicated that age and the daily dose were positively correlated with the serum drug concentration, whereas male gender and sampling time before the last administration were negative correlated with its concentration. The serum amisulpride concentration significantly differed among the dose regimens. Using an established amisulpride population pharmacokinetic model, the simulated trough concentrations exceeded 320 ng/mL for most regimens with daily doses greater than 600 mg/day.
Conclusion

Differences in dose regimens and daily doses contributed to the large variation of the serum amisulpride concentration. The currently recommended reference does not ensure the attainment of appropriate therapeutic concentrations.
Healing of rectal advancement flap for anal fistula in patients with and without Crohn’s disease: a retrospective cohort analysis
Authors: Seifarth Claudia , Lehmann Kai S. , Holmer Cristoph , Pozios Ioannis 
Published: February 2021

Abstract
Background

Surgical closure of anal fistulas with rectal advancement flap is an established standard method, but in some cases, it has a high degree of healing failure. There are few studies in literature with a small number of cases examining differences between patients with and without Crohn's disease (CD). The aim of this study was to identify risk factors for anal fistula healing failure after advancement flap between patients with cryptoglandular fistulas and patients with CD.
Methods

From January 2010 to October 2020, 155 rectal advancement flaps (CD patients = 55, non-CD patients = 100) were performed. Patients were entered into a prospective database and retrospectively analyzed for healing rates.
Results

Median follow up was 189 days (95 % CI: 109–269). Overall complication rate was 5.8 %. Total healing rate for all rectal advanced flaps was 56 %. CD patients were younger (33 vs. 43 years, p < 0.001), more often female (76 vs. 30 %, p < 0.001), had more immunosuppressant medication (65 vs. 5 %, p < 0.001), more vaginal fistulas (29 vs. 8 %, p = 0.001) and more protective stomas (49 vs. 2 %, p < 0.001) than patients without CD. However, there was no difference in the healing rate of patients with or without CD (47 % vs. 60 %, p = 0.088).
Conclusions

Patients with anal fistulas without and with Crohn’s disease have the same healing rate. Although patients with CD differ in their patient-specific characteristics, no independent factors for the occurrence of anal fistula healing failure could be determined.
Trial registration:

Not applicable due to the retrospective study design.
Second to fourth digit (2D:4D) ratio and their relationships among first-time mother-and-child population in Ghana
Authors: Banyeh Moses , Amidu Nafiu , Quaye Lawrence 
Published: February 2021

Abstract
The study aimed to determine the 2D:4D digit ratios and their relationships in a paired mother-and-child population. This was a cross-sectional study from December 2020 to January 2021. Digit ratios were measured by computer-assisted analysis (GIMP). Outcome variables were compared by < mean versus ≥ mean of digit ratios. The study involved 84 mother-and-child pairs (male: 45). The mean ± SD age of mothers was 23.5 ± 3.58 years. The median (IQR) age of female children was 111(51–180) days and males, 74 (44–190) days. The mean ± SD right-hand 2D:4D ratio was 0.94 ± 0.04 for mothers, 0.91 ± 0.04 for female and 0.90 ± 0.04 for male children. The mean ± SD left-hand 2D:4D ratios were 0.93 ± 0.04 for mothers, 0.92 ± 0.04 for female and 0.93 ± 0.05 for male children. Male and female children did not differ in their 2D:4D digit ratios, but males showed leftward bias. Mothers’ right-hand digit ratio correlated with that of daughters’ (r = 0.52, P = 0.001) and sons’ (r = 0.38, P = 0.011). Serum alanine transferase (ALT) levels were positively associated with ≥ mean 2D:4D ratios of the right [aOR: 1.081(1.009–1.159)] and the left-hand [aOR:1.198(1.084–1.325)] of mothers. A mother’s height could be predicted from their 2D:4D ratios. These findings support the heritability of 2D:4D ratios. We, however, recommend further studies.
The differential expression and regulatory networks of ceRNAs in umbilical cord blood sample of chromosome 22q11.2 deletion syndrome
Authors: Zhang Ruohan , Tang Donge , Xue Wen , Gan Qing , Zou Yaoshuang , Jing Huanyun , Dai Yong , Chen Jiejing 
Published: February 2021

Abstract
Background: Chromosome 22q11.2 deletion (CH22qD) syndrome is the most common human deletion syndrome. Competing endogenous RNAs (ceRNAs) have miRNA binding sites that are capable of competitively binding miRNAs and inhibiting miRNA regulation of target genes. Results: We identified differently expressed miRNAs, circRNAs, lncRNAs and mRNAs of CH22qD, and we analysed the results by using GO analysis, KEGG pathway analysis and network regulation analysis. Conclusions: These analyses may predict the effects of chromosomal microdeletions.
Manuscript title: The effect of three dimensional printing hinged ankle foot orthosis in chronic stroke patients
Authors: Fu Jimmy Chun-Ming , Li Cyuan-Fong , Hsiao Yu-Hsuan , Sheen Feng-Zu , Chen Yi-Jen , Chen Chia-Hsin 
Published: February 2021

Abstract
BackgroundThree-dimensional printing (3DP) is a promising technique utilized in orthosis fabrication, including ankle foot orthosis for stroke patients. However, the effects on ankle biomechanics remains unclear. ObjectivesTo compare the plantar pressure distribution and patient’s subjective experience in chronic stroke patients during 3DP hinged ankle foot orthosis (3DP-HAFO) and anterior ankle foot orthosis (A-AFO) walking MethodsTen patients with first-ever unilateral stroke were enrolled in this study. All patients performed 10-meter walk test in 3 different conditions, including 3DP-HAFO walking, A-AFO walking, and bare foot walking. The plantar pressure parameters including contact area, maximum force, and peak pressure were collected using Pedar X insole system. Gait asymmetry analysis of the plantar pressure parameters was conducted. Quebec User Evaluation of Satisfaction with Assistive Technology (QUEST) was used for patient’s satisfaction.Results3DP-HAFO walking revealed significant increase in medial midfoot peak pressure compared to bare foot walking. Gait asymmetry analysis illustrated more even medial midfoot contact area during 3DP-HAFO walking compared to bare foot walking while A-AFO walking did not. In QUEST survey, 3DP-HAFO outweighs A-AFO in fitting and durableness. Conclusions3DP-HAFO may improve ankle instability and gait asymmetry in chronic stroke patients.
Garlic (Allium sativum Linn) Mitigates Experimentally induced Hepatotoxicity and Nephrotoxicity in Commercial Chickens
Authors: OLADELE OMOLADE ABODUNRIN , Nottidge Helen Oyebukola , Esan Oluwaseun Olanrewaju , Bakre Adetolase Azizat 
Published: February 2021

Abstract
Intoxication as well as infectious and metabolic diseases resulting in liver and kidney damage are major causes of losses in poultry species. While there are no specific drugs for reversal of pathophysiology of the liver and kidney, certain herbs such as garlic have been shown to improve livability of livestock and poultry. Its probable potential at enhancing the functionality of these organs in the face of injuries/insults by intoxication was investigated. Chicken subgroup supplemented with 0.25% garlic-meal and administered 300mg/kg acetaminophen at 8week-old (G1; n=25) and subgroup without acetaminophen (G2; n=25), those not supplemented and without acetaminophen (NG2; n=25) and those not initially supplemented but administered acetaminophen and later supplemented (NG1g; n=20) had higher Newcastle disease vaccinal antibody titers (8.0±0.25, 7.5±0.24, 7.6±0.23, 8.14±0.31, respectively) in comparison with subgroup without supplementation and administered acetaminophen (NGI; n=25 - 7.13±0.38). Serum protein levels had a similar pattern. AST levels (U/L) were significantly higher (p<0.05) in acetaminophen subgroups G1 (79.4±5.79) and NG1 (83.7±7.5) than their respective controls G2 (75.1±7.85) and NG2 (65.2±6.84) with no corresponding increase in CK levels. At 2-, 7- and 14-days post-administration of acetaminophen (paa), creatinine (mg/dl) was significantly higher in G1 (1.44±0.01, 1.42±0.01, 1.44±0.02) and NG1 (1.47±0.01, 1.51±0.01, 1.47±0.01) than in G2 (1.16±0.05, 1.23±0.01, 1.26±0.06) and NG2 (1.31±0.06, 1.29±0.02, 1.31±0.05). A similar pattern was observed at 21 days paa. Clinical signs and pathological lesions associated with toxic dose of acetaminophen in liver and kidneys were reversed (NG1g). Thus, exhibiting the potential of garlic in protection against hepatorenal damage or injury.
Structural Characterization and Dielectric Properties of the Effect of Carbon Nanotubes and Silicon on AA2024 Metal Matrix Composites
Authors: Mani Muniyappan , Natesan Iyandurai 
Published: February 2021

Abstract
This research work focus on the formation of AA2024-carbon nanotubes-silicon hybrid metal matrixcomposites. Structure morphology, structural characterization, elemental identification and dielectric properties of AA 2024 in the presence of carbon nanotubes, silicon andits combinations at various proportions was evaluated using SEM, XRD, EDX and Hioki 3532-50 LCR Hi-Tester. A two-stage stir casting method was used for the fabrication of AA2024 hybrid metal matrix composites. It was observed that the size of the AA 2024 + 4% CNT + 2% Si composite wasfound to be 23.6 nm, this shows enhanced results than other composites prepared. Dielectric properties of composites were characterized as a function of composition and frequency. It was found that the dielectric constant, dielectric loss and dissipation factor decreases smoothly with an increase of reinforcements and also frequency.
A New Prediction Model of Patient Satisfaction After Total Knee Arthroplasty and The Roles of Different Score Systems: A retrospective cohort study
Authors: Liu Jinyu , Yang Yi , Wan Shengcheng , Yao Zhenjun , Zhang Yueqi , Zhang Ying , Shi Peng , Zhang Chi 
Published: February 2021

Abstract
BACKGROUNDAlthough total knee arthroplasty (TKA) is efficacious treatment for end-stage osteoarthritis, ~20% patients are dissatisfied with the results. We determined which factors contribute to patient satisfaction and compared the various scoring systems before and after surgery.METHODSIn this retrospective cohort study, 545 patients were enrolled and were evaluated preoperatively and 1 year postoperatively. Patient demographics, as well as scores for Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), Short Form (SF)-12, and 1989 Knee Society Clinical Rating System (KSS) were recorded preoperatively and postoperatively. The possible predictors were introduced into a prediction model. Scores for overall satisfaction and 2011 Knee Society Score(KSS) were also assessed after total knee arthroplasty to identify the accuracy and agreement of the systems.RESULTSThere were 134 male patients and 411 female patients, with an overall prevalence of satisfaction of 83.7% 1 year after surgery. A history of surgery(p<0.001) , 1989 KSS and SF-12 were of the utmost importance in the prediction model, whereas the WOMAC score had a vital role postoperatively(change of WOMAC pain score, p<0.001; change of WOMAC physical function score, p<0.001; postoperative WOMAC pain score, p=0.004). The agreement between assessment of overall satisfaction and 2011 KSS satisfaction assessment was general(Kappa=0.437>0.4, p<0.001). CONCLUSIONA history of surgery, preoperative 1989 KSS and preoperative SF-12 influenced patient satisfaction after primary total knee arthroplasty. We recommend WOMAC (particularly the subscale score of pain) to reflect the overall patient satisfaction postoperatively.
Temporal evolution of inflammation and neurodegeneration with alpha-synuclein propagation in Parkinson’s disease mouse model
Authors: Lai Thuy Thi , Kim Yun Joong , Nguyen Phuong Thi , Koh Young Ho , Nguyen Tinh Thi , Ma Hyeo-il , Kim Young Eun 
Published: February 2021

Abstract
Alpha-synuclein (αSyn) propagation has been determined to play a key role in the pathomechanism of Parkinson’s disease (PD), but neurodegeneration and the involvement of inflammation in its pathologic progression are yet to be well understood with regard to temporal relationship. In this study, by means of PD mouse model injected with intrastriatal αSyn preformed fibril (PFF), the temporal evolution of αSyn propagation, inflammation, and neurodegeneration was explored in the perspective of the striatum and the whole brain. In the PFF-injected striatum, inflammatory responses including the microglia and astrocyte were activated at the earliest stage and reduced with time, and the phosphorylated form of αSyn accumulation increased behind it. Thereafter, the degeneration of striatal dopaminergic neurons became significant with the conspicuity of behavior phenotype. Similar pattern of forefront eruption of inflammation and following αSyn propagation was noted in the opposite striatum, which was not injected with PFF. Meanwhile, in analyzing the whole brain, inflammatory responses were determined to have activated at the earliest stage, and the soluble αSyn expression then increased concurrently. Inflammatory response decreased afterward, and the accumulation of the insoluble form of αSyn increased behind it. Our results suggested that the inflammatory response may precede the accumulation of the pathologic form of αSyn; thereafter, the neurodegeneration and motor dysfunction followed αSyn proliferation in PD mouse model. From this model, recognizing the temporal relationship between inflammation, αSyn propagation, and neurodegeneration may be helpful in establishing PD animal model and monitoring the effect of interventional therapy.
Peripheral members create and core members integrate: cooperation pattern of members in networks during co-creations
Authors: Yang Kunhao , Fujisaki Itsuki , Ueda Kazuhiro 
Published: February 2021

Abstract
Cooperation has become the principal way in which creative activities are carried out in modern society. Previous research has shown that in the cooperation of creative activities (i.e., co-creation), different participants can play two completely different roles: some participants are the originators who generate initial contents, and others are the revisors who provide revisions or coordination. In this research, we investigated the different participants’ roles (i.e., the originator vs the revisor) in co-creations and how these roles affected the final cooperation-group outcome. By using cooperation networks to represent the cooperative relationships among participants, we found that peripheral members (i.e., those in the periphery of the co-operation networks) and core members (i.e., those in the centre of the co-operation networks) played the roles of originators and revisors, respectively, mainly affecting the quantity versus the quality of creative outcomes. These results were robust across three different datasets and three different indicators defining core and peripheral members. Our results uncover the cooperation pattern in co-creations and advance the understanding of how co-creations occur in networks.
The mediating effects of quality of life, depression, and generalized anxiety on perceived work barriers for people diagnosed with Neurofibromatosis Type 1
Authors: Buono Frank D , Sprong Matthew E , Paul Erina , Martin Staci , Larkin Kaitlyn , Garakani Amir 
Published: February 2021

Abstract
Background

Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with decreased quality of life compared to a normative population. The purpose of the current study was to explore the impact of psychological factors (anxiety and depression), along with quality of life and hope on employment barriers between those with NF1 and matched controls.
Methods

A total of 212 individuals were stratified into two groups (NF1 and matched controls) using a cross-sectional design that collected a one-time response.
Results

A mediation analysis in which total barriers to employment success on the differences between groups with quality of life, anxiety and depression as the mediators, and levels of employment hope as the co-variates were examined. The results did confirm a direct (.001) and indirect (< .001) relationship between work barriers with NF1 to matched controls, and with quality of life, anxiety, and depression.
Conclusions

The current article demonstrates that quality of life can directly be affected by perceived barriers of employment within the NF1 population, while extending existing research by providing insight on the impact of quality of life on employment. Poorer mental health observed amongst people with a genetic disease can impact barriers of employment and quality of life.
Intramedullary Well-Differentiated Osteosarcoma: Imaging and Pathologic Findings in a Group of 17 Patients
Authors: Han Shu-Man , Wu Yuan , Wen Jin-Xu , Wu Tian-Hao , Sun Tao , Yu Bao-Hai , Wu Wen-Juan , Gao Bu-Lang 
Published: February 2021

Abstract
The authors have requested that this preprint be removed from Research Square.