bluuebunny/crossref_metadata_2025_split huggingface dataset:
EFR3A: a new raft domain organizing protein?
Authors: Trybus Magdalena , Hryniewicz-Jankowska Anita , Wójtowicz Karolina , Trombik Tomasz , Czogalla Aleksander , Sikorski Aleksander F. 
Published: October 2023

Abstract
Background
Membrane rafts play a crucial role in the regulation of many important biological processes. Our previous data suggest that specific interactions of flotillins with MPP1 are responsible for membrane raft domain organization and regulation in erythroid cells. Interaction of the flotillin-based protein network with specific membrane components underlies the mechanism of raft domain formation and regulation, including in cells with low expression of MPP1.

Methods
We sought to identify other flotillin partners via the immobilized recombinant flotillin-2-based affinity approach and mass spectrometry technique. The results were further confirmed via immunoblotting and via co-immunoprecipitation. In order to study the effect of the candidate protein on the physicochemical properties of the plasma membrane, the gene was knocked down via siRNA, and fluorescence lifetime imaging microscopy and spot-variation fluorescence correlation spectroscopy was employed.

Results
EFR3A was identified as a candidate protein that interacts with flotillin-2. Moreover, this newly discovered interaction was demonstrated via overlay assay using recombinant EFR3A and flotillin-2. EFR3A is a stable component of the detergent-resistant membrane fraction of HeLa cells, and its presence was sensitive to the removal of cholesterol. While silencing the EFR3A gene, we observed decreased order of the plasma membrane of living cells or giant plasma membrane vesicles derived from knocked down cells and altered mobility of the raft probe, as indicated via fluorescence lifetime imaging microscopy and spot-variation fluorescence correlation spectroscopy. Moreover, silencing of EFR3A expression was found to disturb epidermal growth factor receptor and phospholipase C gamma phosphorylation and affect epidermal growth factor-dependent cytosolic Ca2+ concentration.

Conclusions
Altogether, our results suggest hitherto unreported flotillin-2-EFR3A interaction, which might be responsible for membrane raft organization and regulation. This implies participation of this interaction in the regulation of multiple cellular processes, including those connected with cell signaling which points to the possible role in human health, in particular human cancer biology.
Effects of dietary PUFA patterns and FADS genotype on breast milk PUFAs in Chinese lactating mothers
Authors: Xu Wen-Hui , Chen Yi-Ru , Tian Hui-Min , Chen Yi-Fei , Gong Jia-Yu , Yu Hai-Tao , Liu Guo-Liang , Xie Lin 
Published: October 2023

Abstract
Background
Breastfeeding affects the growth and development of infants, and polyunsaturated fatty acids (PUFAs) play a crucial role in this process. To explore the factors influencing the PUFA concentration in breast milk, we conducted research on two aspects: dietary fatty acid patterns and single nucleotide polymorphisms (SNPs) in maternal fatty acid desaturase genes.

Methods
Three hundred seventy Chinese Han lactating mothers were recruited. A dietary semi-quantitative food frequency questionnaire (FFQ) was used to investigate the dietary intake of lactating mothers from 22 to 25 days postpartum for 1 year. Meanwhile, breast milk samples were collected from the participants and tested for the concentrations of 8 PUFAs and 10 SNP genotypes. We sought to determine the effect of dietary PUFA patterns and SNPs on breast milk PUFAs. We used SPSS 24.0 statistical software for data analysis. Statistical tests were all bilateral tests, with P < 0.05 as statistically significant.

Results
Under the same dietary background, PUFA contents in breast milk expressed by most major allele homozygote mothers tended to be higher than that expressed by their counterparts who carried minor allele genes. Moreover, under the same gene background, PUFA contents in breast milk expressed by the mother’s intake of essential PUFA pattern tended to be higher than that expressed by their counterparts who took the other two kinds of dietary.

Conclusions
Our study suggests that different genotypes and dietary PUFA patterns affect PUFA levels in breast milk. We recommend that lactating mothers consume enough essential fatty acids to ensure that their infants ingest sufficient PUFAs.
TreeKernel: interpretable kernel machine tests for interactions between -omics and clinical predictors with applications to metabolomics and COPD phenotypes
Authors: Carpenter Charlie M. , Gillenwater Lucas , Bowler Russell , Kechris Katerina , Ghosh Debashis 
Published: October 2023

Abstract
Background
In this paper, we are interested in interactions between a high-dimensional -omics dataset and clinical covariates. The goal is to evaluate the relationship between a phenotype of interest and a high-dimensional omics pathway, where the effect of the omics data depends on subjects’ clinical covariates (age, sex, smoking status, etc.). For instance, metabolic pathways can vary greatly between sexes which may also change the relationship between certain metabolic pathways and a clinical phenotype of interest. We propose partitioning the clinical covariate space and performing a kernel association test within those partitions. To illustrate this idea, we focus on hierarchical partitions of the clinical covariate space and kernel tests on metabolic pathways.

Results
We see that our proposed method outperforms competing methods in most simulation scenarios. It can identify different relationships among clinical groups with higher power in most scenarios while maintaining a proper Type I error rate. The simulation studies also show a robustness to the grouping structure within the clinical space. We also apply the method to the COPDGene study and find several clinically meaningful interactions between metabolic pathways, the clinical space, and lung function.

Conclusion
TreeKernel provides a simple and interpretable process for testing for relationships between high-dimensional omics data and clinical outcomes in the presence of interactions within clinical cohorts. The method is broadly applicable to many studies.
Xpert MTB/RIF assay for the differential diagnosis between sarcoidosis and tuberculosis intrathoracic lymphadenopathy
Authors: He Xian , Zhang Yuan , Zhou Ying , Li Li , Li Qiuhong 
Published: October 2023

Abstract
Background
The aim of this study was to evaluate the role of Xpert MTB/RIF assay in the detection of Mycobacterium tuberculosis for differentiating tuberculosis intrathoracic lymphadenopathy from sarcoidosis intrathoracic lymphadenopathy.

Methods
The patients who were suspected to having sarcoidosis or tuberculosis intrathoracic lymphadenopathy at the Shanghai Pulmonary Hospital between October 1, 2020 and June 30, 2021 were retrospectively evaluated in this study. All patients underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and Xpert analysis. Differences in clinical and radiological features were recorded. The diagnostic performances of EBUS-TBNA Xpert, acid-fast bacilli, culture, and peripheral blood QuantiFERON-TB Gold (QFT) for differentiating sarcoidosis from tuberculosis intrathoracic lymphadenopathy were analyzed.

Results
A total of 119 patients were included in this analysis. Of those, 83 patients were finally diagnosed with sarcoidosis (N = 50) and tuberculosis (N = 33) intrathoracic lymphadenopathy. Young individuals were more likely to have tuberculosis versus sarcoidosis intrathoracic lymphadenopathy (P = 0.006). Markers of inflammation, including fever, leukocytes, and serum ferritin levels, were significantly higher in tuberculosis versus sarcoidosis intrathoracic lymphadenopathy (P < 0.01). Bilateral lung involvement and symmetry intrathoracic lymphadenopathy were more common in sarcoidosis intrathoracic lymphadenopathy (P < 0.01). In addition, the longest diameter of intrathoracic lymphadenopathy (in cm) was significantly larger in sarcoidosis intrathoracic lymphadenopathy (P = 0.001). However, the largest diameter of lung lesions was significantly shorter (P = 0.005). The sensitivity and specificity values of Xpert and QFT for differentiating these two diseases were 69.70% and 100%, and 96.43% and 91.84%, respectively.

Conclusion
Xpert MTB/RIF is recommended for the diagnosis of tuberculosis intrathoracic lymphadenopathy using EBUS-TBNA samples. A negative QFT suggests the exclusion of the diagnosis of tuberculosis intrathoracic lymphadenopathy.
Characteristics of sodium and water retention in rats with nephrotic syndrome induced by puromycin aminonucleoside
Authors: Xu Zaiping , Wang Yunlai , Feng Ye , Yang Mo , Shi Gaoxiang , Xuan Zihua , Xu Fan 
Published: October 2023

Abstract
Introduction
Nephrotic syndrome (NS) is characterized by renal sodium and water retention. The mechanisms are not fully elucidated.

Methods
The NS rat model was established by single intraperitoneal injection of 100 mg/kg puromycin aminonucleoside (PAN). The plasma electrolyte level and urinary sodium excretion were monitored dynamically. The changes of some sodium transporters, including epithelial Na+ channel (ENaC), Na+/H+ exchanger 3 (NHE3), Na+-K+-2Cl− cotransporter 2 (NKCC2) and Na+-Cl− cotransporter (NCC) in renal cortex at different time points and the level of peripheral circulation factors were detected.

Results
The urinary sodium excretion of the model group increased significantly on the first day, then decreased compared with the control group, and there was no significant difference between the model group and the control group on the 12th day. The changes of peripheral circulation factors were not obvious. Some sodium transporters in renal cortex increased in varying degrees, while NKCC2 decreased significantly compared with the control group.

Conclusions
The occurrence of NS edema may not be related to the angiotensin system. The decrease of urinary sodium excretion is independent of the development of albuminuria. During the 18 days of observation, it can be divided into three stages: sodium retention, sodium compensation, and simple water retention. The mechanism is related to the increased expression of α-ENaC, γ-ENaC, NHE3 and NCC in a certain period of time, the compensatory decrease of NKCC2 expression and the continuous increase of aquaporin 2 (AQP2) expression.
Relationship between lead concentration in maternal and umbilical cord blood and some neonatal outcomes in primiparous opium-dependent mothers in Zahedan, Southeast of Iran in 2022
Authors: Khayat Samira , Fanaei Hamed 
Published: October 2023

Abstract
Background
There are limited studies on maternal and umbilical cord blood lead levels and their relationship with each other and with pregnancy outcomes in women addicted to opium. The present study was conducted with the aim of investigating the relationship between lead concentrations in maternal blood and umbilical cord blood with some neonatal outcomes in primiparous opium-dependent mothers.

Method
The present study is a cross-sectional and analytical research. A total of 35 mothers addicted to opium and 35 women without addiction from Zahedan city of Iran participated in this study in 2022. Convenience sampling was done, lead levels were measured and pregnancy outcomes checked by a checklist to collect information. Data analysis was done by independent t-tests, Pearson’s correlation coefficient, Point-Biserial Correlation Coefficient, multivariate linear regression and multivariate logistic regression using SPSS version 26 software.

Results
There was a significant difference in maternal blood lead levels (24.97 ± 8.45 in addicted mothers and 7.5 ± 4.25 in healthy mothers) and in umbilical cord blood lead concentrations (18.68 ± 6.95 in the addicted group and 5.7 ± 2.84 in the healthy group) between the two groups (P < 0.0001 and P < 0.0001, respectively).The lead concentration of all the samples in the addicted group was higher than the high-risk levels. Birth weight, Apgar score, admission to NICU and need for resuscitation were significantly different between the two groups (P < 0.0001, P < 0.0001, p = 0.03 and p = 0.04, respectively). Based on the results of multivariate linear regression test, only addiction can reversely predict the birth weight (Beta= -0.74, P < 0.0001), 1-minute Apgar score (Beta = -0.47, P = 0.004) and 5th minute (Beta= -0.62, P = 0.001). According to multivariate logistic regression test, OR of none of the predictor variables was significant with the outcomes. Maternal and umbilical cord blood lead concentrations were not predictors of pregnancy outcomes.

Conclusion
The use of opium during pregnancy leads to an increase in the level of lead in maternal blood and umbilical cord blood. Addiction increased adverse pregnancy outcomes but lead concentration did not predict pregnancy complications. It is recommended that the addiction treatment program be included in pre-pregnancy and pregnancy care plans.
Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy
Authors: Tian Yang , Shi Zhen , Cai Jiahao , Hou Chi , Wang Xiuying , Zhu Haixia , Peng Binwei , Shi Kaili , Li Xiaojing , Gong Sitang , Chen Wen-Xiong 
Published: October 2023

Abstract
Introduction
Self-limited infantile epilepsy (SeLIE) is a benign epilepsy. Previous studies have shown that monotherapy with most antiseizure medications can effectively relieve seizures in patients with SeLIE, but the efficacy of levetiracetam has not been investigated.

Objective
This study aimed to investigate the efficacy of levetiracetam in the treatment of SeLIE patients with PRRT2 mutations.

Methods
The clinical data of 39 SeLIE patients (21 males and 18 females, aged 4.79 ± 1.60 months) with pathogenic variants in PRRT2 or 16p11.2 microdeletion were retrospectively analyzed. Based on the use of initial antiseizure medication (ASM), the patients were classified into two groups: Levetiracetam group (LEG) and Other ASMs group (OAG). The difference of efficacy between the two groups was compared.

Results
Among the 39 SeLIE patients, 16 were LEG (10 males and 6 females, aged 5.25 ± 2.07 months), with whom two obtained a seizure-free status (12.50%) and 14 ineffective or even deteriorated (87.50%). Among the 14 ineffective or deteriorated cases, 13 were seizure-controlled after replacing levetiracetam with other ASMs including topiramate, oxcarbazepine, lamotrigine, and valproate, and the remaining one finally achieved remission at age 3. Of the 39 patients, 23 were OAG (11 males and 12 females; aged 4.48 ± 1.12 months), of whom 22 achieved seizure remission, except for one patient who was ineffective with topiramate initially and relieved by oxcarbazepine instead. Although there were no significant differences in gender and age of onset between the two groups, the effective rate was significantly different (12.50% in LEG vs. 95.65% in OAG) (P < 0.01).

Conclusion
The findings showed that patients with SeLIE caused by the PRRT2 mutations did not benefit from the use of levetiracetam, but could benefit from other ASMs.
Age-associated augmented renal clearance and low BMI trigger suboptimal vancomycin trough concentrations in children with haematologic diseases: data of 1453 paediatric patients from 2017 to 2022
Authors: Wang Fengjiao , Zhou Mi , Wang Wenjuan , Zhu Zengyan , Yan Yinghui 
Published: October 2023

Abstract
Background
It is usually difficult for the trough concentration of vancomycin to reach the recommended lower limit of 10 mg/L per the label dose in the paediatric population. Moreover, children with haematologic diseases who suffer from neutropenia are more likely to have lower exposure of vancomycin, and the risk factors have been poorly explored.

Method
We reviewed and analysed the initial trough concentration of vancomycin and synchronous cytometry and biochemical parameters in the blood of 1453 paediatric patients with haematologic diseases over a 6 year period, from 2017 to 2022.

Results
Forty-five percent of the enrolled children had vancomycin trough concentrations below 5 mg/L after receiving a dose of 40 mg/kg/day, and the multiple regression showed that age (OR = 0.881, 95% CI 0.855 to 0.909, P < 0.001), BMI (OR = 0.941, 95% CI 0.904 to 0.980, P = 0.003) and the glomerular filtration rate (OR = 1.006, 95% CI 1.004 to 1.008, P < 0.001) were independent risk factors. A total of 79.7% of the children experienced augmented renal clearance, which was closely correlated to age-associated levels of serum creatinine. The vancomycin trough concentration was higher in children with aplastic anaemia than in those with other haematologic diseases due to a higher BMI and a lower glomerular filtration rate.

Conclusion
Age-associated augmented renal clearance and low BMI values contributed to suboptimal trough concentrations of vancomycin in children with haematologic diseases, and the effects of long-term use of cyclosporine and glucocorticoids need to be taken into account.
Association between albumin and depression: a population-based study
Authors: Al-Marwani Sabah , Batieha Anwar , Khader Yousef , El-Khateeb Mohammed , Jaddou Hashem , Ajlouni Kamel 
Published: October 2023

Abstract
Introduction
Albumin is the most prevalent plasma protein and is involved in a variety of critical physiological processes. Low serum albumin levels have been linked to depression symptoms in people who had recent suicide attempts and those suffering from several mental diseases such as acute episodes of mania, and schizophrenia. However, there has been little investigation into the relationship between depression and serum albumin levels in community-dwelling persons. This research aimed to examine the relationship between serum albumin and depression in a population-based sample and whether it differs depending on other possible confounders.

Methods
Our data were derived from a national household population study conducted in 2017 with a sample size of 3,521 Jordanians aged > 17 years old. The Patient Health Questionnaire (PHQ-9) scale, a self-administered scale, was used to screen for depression. Concentrations of serum albumin and other medical biomarkers were measured by blood tests. Using descriptive statistics for depression distribution and multivariate logistic regression analysis, the connection between albumin levels and depression was investigated.

Results
The odds ratios (ORs) for depression were significantly lower in the third and fourth quartiles of serum albumin concentration compared to the first quartile (OR = 0.64 and 0.66, respectively; P values = <0.001 and <0.001, respectively). This association was statistically significant even after controlling for variables such as gender, age, marital status, education, and occupation (OR = 0.67 and 0.75, respectively, and P values = 0.001 and 0.02, respectively), as well as after further controlling for other health status variables such as nutrition, comorbidity, body mass index, somking status, and biomedical markers such as serum calcium, phosphate, and magnesium (OR = 0.58 and 0.59, respectively, and P values = <0.001 and 0.001, respectively). Moreover, the unadjusted and adjusted odds ratios in the three regression models declined linearly with rising quartiles of serum albumin (P trend = <0.001, 0.009, and 0.001, respectively).

Conclusions
Our research found an inverse relationship between serum albumin and depression. Serum albumin could be a warning measure for depression. It is required for appropriate intervention measures to be implemented.
A cross-sectional analysis of the relationships between anxiety sensitivity and youth irritability: the mediated roles of insomnia and selective attention for threat
Authors: Li Yalin , Tian Wanfu , Liu Ping , Geng Fulei 
Published: October 2023

Abstract
Background
Irritability is common in multiple psychiatric disorders and is hallmark of disruptive mood dysregulation disorder. Child irritability is associated with higher risk of suicide and adulthood mental health problems. However, the psychological mechanisms of irritability are understudied. This study examined the relationship between anxiety sensitivity and irritability among youth, and further explored three possible mediated factors: selective attention for threat, delayed reward discounting, and insomnia.

Methods
Participants were 1417 students (51.7% male; mean age 13.83 years, SD = 1.48) recruited from one high school in Hunan province, China. Self-report questionnaires were used to measure irritability (The Affective Reactivity Index and The Brief Irritability Test), anxiety sensitivity (The Childhood Anxiety Sensitivity Index), selective attention for threat (The Davos Assessment of Cognitive Biases Scale-attention for threat bias subscale), insomnia (The Youth Self-Rating Insomnia Scale), and delayed reward discounting (The 27-item Monetary Choice Questionnaire). Structural equation modal (SEM) was performed to examine mediated relations.

Results
Anxiety sensitivity was modestly related to irritability and insomnia (r from 0.25 to 0.54) and slightly correlated with selective attention for threat (r from 0.12 to 0.28). However, there is no significant relationship of delayed rewards discounting with anxiety sensitivity and irritability. The results of SEM showed that selective attention for threat (indirect effect estimate = 0.04) and insomnia (indirect effect estimate = 0.20) partially mediate the relationship between anxiety sensitivity and irritability, which explained 34% variation.

Conclusions
Anxiety sensitivity is an important susceptibility factor for irritability. Selective attention for threat and insomnia are two mediated mechanisms to understand the relationship between anxiety sensitivity and irritability.
Association of DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia
Authors: Taheri Narges , Pirboveiri Rokhshid , Sayyah Mehdi , Bijanzadeh Mahdi , Ghandil Pegah 
Published: October 2023

AbstractAntipsychotic drugs are the first line of treatment in schizophrenia; although antipsychotic responses indicate a wide interindividual variety in patients with schizophrenia. This study aimed to investigate the association between four polymorphisms in DRD2, DRD4 and COMT genes and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia. A total of 101 patients with schizophrenia were recruited and stratified in treatment responder and treatment resistant groups based on the published criteria of resistant to treatment using PANSS. Clinical and demographic factors were analyzed. Genomic DNA was extracted from whole blood and genotyping for the four polymorphisms were done by ARMS-PCR, PCR-RFLP and gap-PCR. Gene-gene interactions were analyzed by logistic regression. In case of DRD2 A-241G, G allele was significantly associated with resistant to treatment. Regarding DRD4 120-bp duplication, 240/240 genotype was significantly associated with resistant to treatment comparing to other genotypes in a dominant model. The genotype combination of DRD4 240/240 and COMT Val/Val was significantly associated with treatment resistant. Among DRD2 AA genotype, COMT met allele carriers which also had a 120 bp allele of DRD4 had a significantly better response to antipsychotics. Moreover, analysis of clinical and demographic factors demonstrated a significantly longer duration of hospitalization and higher chlorpromazine-equivalent daily dose in resistant to treatment patients. Discovering the polymorphisms which effect treatment response to antipsychotics will provide the possibility of genetic screening before starting an antipsychotic treatment which enhances the chance of responding to antipsychotics and decreases drugs side effects and costs.