bluuebunny/crossref_metadata_2025_split huggingface dataset:
Subtyping based on immune cell fractions reveal heterogeneity of cardiac fibrosis in end-stage heart failure
Authors: Zou Shangjie , Khoo Bee Luan 
Published: February 2023

BackgroundA central issue hindering the development of effective anti-fibrosis drugs for heart failure is the unclear interrelationship between fibrosis and the immune cells. This study aims at providing precise subtyping of heart failure based on immune cell fractions, elaborating their differences in fibrotic mechanisms, and proposing a biomarker panel for evaluating intrinsic features of patients’ physiological statuses through subtype classification, thereby promoting the precision medicine for cardiac fibrosis.MethodsWe inferred immune cell type abundance of the ventricular samples by a computational method (CIBERSORTx) based on ventricular tissue samples from 103 patients with heart failure, and applied K-means clustering to divide patients into two subtypes based on their immune cell type abundance. We also designed a novel analytic strategy: Large-Scale Functional Score and Association Analysis (LAFSAA), to study fibrotic mechanisms in the two subtypes.ResultsTwo subtypes of immune cell fractions: pro-inflammatory and pro-remodeling subtypes, were identified. LAFSAA identified 11 subtype-specific pro-fibrotic functional gene sets as the basis for personalised targeted treatments. Based on feature selection, a 30-gene biomarker panel (ImmunCard30) established for diagnosing patient subtypes achieved high classification performance, with the area under the receiver operator characteristic curve corresponding to 0.954 and 0.803 for the discovery and validation sets, respectively.ConclusionPatients with the two subtypes of cardiac immune cell fractions were likely having different fibrotic mechanisms. Patients’ subtypes can be predicted based on the ImmunCard30 biomarker panel. We envision that our unique stratification strategy revealed in this study will unravel advance diagnostic techniques for personalised anti-fibrotic therapy.
Differences of gut microbiota and behavioral symptoms between two subgroups of autistic children based on γδT cells-derived IFN-γ Levels: A preliminary study
Authors: Xu Xin-Jie , Lang Ji-Dong , Yang Jun , Long Bo , Liu Xu-Dong , Zeng Xiao-Feng , Tian Geng , You Xin 
Published: February 2023

BackgroundAutism Spectrum Disorders (ASD) are defined as a group of pervasive neurodevelopmental disorders, and the heterogeneity in the symptomology and etiology of ASD has long been recognized. Altered immune function and gut microbiota have been found in ASD populations. Immune dysfunction has been hypothesized to involve in the pathophysiology of a subtype of ASD.MethodsA cohort of 105 ASD children were recruited and grouped based on IFN-γ levels derived from ex vivo stimulated γδT cells. Fecal samples were collected and analyzed with a metagenomic approach. Comparison of autistic symptoms and gut microbiota composition was made between subgroups. Enriched KEGG orthologues markers and pathogen-host interactions based on metagenome were also analyzed to reveal the differences in functional features.ResultsThe autistic behavioral symptoms were more severe for children in the IFN-γ-high group, especially in the body and object use, social and self-help, and expressive language performance domains. LEfSe analysis of gut microbiota revealed an overrepresentation of Selenomonadales, Negatiyicutes, Veillonellaceae and Verrucomicrobiaceae and underrepresentation of Bacteroides xylanisolvens and Bifidobacterium longum in children with higher IFN-γ level. Decreased metabolism function of carbohydrate, amino acid and lipid in gut microbiota were found in the IFN-γ-high group. Additional functional profiles analyses revealed significant differences in the abundances of genes encoding carbohydrate-active enzymes between the two groups. And enriched phenotypes related to infection and gastroenteritis and underrepresentation of one gut–brain module associated with histamine degradation were also found in the IFN-γ-High group. Results of multivariate analyses revealed relatively good separation between the two groups.ConclusionsLevels of IFN-γ derived from γδT cell could serve as one of the potential candidate biomarkers to subtype ASD individuals to reduce the heterogeneity associated with ASD and produce subgroups which are more likely to share a more similar phenotype and etiology. A better understanding of the associations among immune function, gut microbiota composition and metabolism abnormalities in ASD would facilitate the development of individualized biomedical treatment for this complex neurodevelopmental disorder.
Soluble peptidoglycan fragments produced by Limosilactobacillus fermentum with antiproliferative activity are suitable for potential therapeutic development: A preliminary report
Authors: Fuochi Virginia , Spampinato Mariarita , Distefano Alfio , Palmigiano Angelo , Garozzo Domenico , Zagni Chiara , Rescifina Antonio , Li Volti Giovanni , Furneri Pio Maria 
Published: February 2023

Currently, the use of probiotic strains and their products represents a promising innovative approach as an antagonist treatment against many human diseases. Previous studies showed that a strain of Limosilactobacillus fermentum (LAC92), previously defined as Lactobacillus fermentum, exhibited a suitable amensalistic property. The present study aimed to purify the active components from LAC92 to evaluate the biological properties of soluble peptidoglycan fragments (SPFs). The cell-free supernatant (CFS) and bacterial cells were separated after 48 h of growth in MRS medium broth and treated for isolation of SPFs. Antimicrobial activity and proliferation analysis on the human cell line HTC116 were performed using technologies such as xCELLigence, count and viability, and clonogenic analysis. MALDI-MS investigation and docking analysis were performed to determine the molecular structure and hypothetical mode of action, respectively. Our results showed that the antimicrobial activity was mainly due to SPFs. Moreover, the results obtained when investigating the SPF effect on the cell line HCT116 showed substantial preliminary evidence, suggesting their significant cytostatic and quite antiproliferative properties. Although MALDI was unable to identify the molecular structure, it was subsequently revealed by analysis of the bacterial genome. The amino acid structure is called peptide 92. Furthermore, we confirmed by molecular docking studies the interaction of peptide 92 with MDM2 protein, the negative regulator of p53. This study showed that SPFs from the LAC92 strain exerted anticancer effects on the human colon cancer HCT116 cell line via antiproliferation and inducing apoptosis. These findings indicated that this probiotic strain might be a potential candidate for applications in functional products in the future. Further examination is needed to understand the specific advantages of this probiotic strain and improve its functional features to confirm these data. Moreover, deeper research on peptide 92 could increase our knowledge and help us understand if it will be possible to apply to specific diseases such as CRC.
Predicting neurological outcome after cardiac arrest by combining computational parameters extracted from standard and deviant responses from auditory evoked potentials
Authors: Floyrac Aymeric , Doumergue Adrien , Legriel Stéphane , Deye Nicolas , Megarbane Bruno , Richard Alexandra , Meppiel Elodie , Masmoudi Sana , Lozeron Pierre , Vicaut Eric , Kubis Nathalie , Holcman David 
Published: February 2023

BackgroundDespite multimodal assessment (clinical examination, biology, brain MRI, electroencephalography, somatosensory evoked potentials, mismatch negativity at auditory evoked potentials), coma prognostic evaluation remains challenging.MethodsWe present here a method to predict the return to consciousness and good neurological outcome based on classification of auditory evoked potentials obtained during an oddball paradigm. Data from event-related potentials (ERPs) were recorded noninvasively using four surface electroencephalography (EEG) electrodes in a cohort of 29 post-cardiac arrest comatose patients (between day 3 and day 6 following admission). We extracted retrospectively several EEG features (standard deviation and similarity for standard auditory stimulations and number of extrema and oscillations for deviant auditory stimulations) from the time responses in a window of few hundreds of milliseconds. The responses to the standard and the deviant auditory stimulations were thus considered independently. By combining these features, based on machine learning, we built a two-dimensional map to evaluate possible group clustering.ResultsAnalysis in two-dimensions of the present data revealed two separated clusters of patients with good versus bad neurological outcome. When favoring the highest specificity of our mathematical algorithms (0.91), we found a sensitivity of 0.83 and an accuracy of 0.90, maintained when calculation was performed using data from only one central electrode. Using Gaussian, K-neighborhood and SVM classifiers, we could predict the neurological outcome of post-anoxic comatose patients, the validity of the method being tested by a cross-validation procedure. Moreover, the same results were obtained with one single electrode (Cz).Conclusionstatistics of standard and deviant responses considered separately provide complementary and confirmatory predictions of the outcome of anoxic comatose patients, better assessed when combining these features on a two-dimensional statistical map. The benefit of this method compared to classical EEG and ERP predictors should be tested in a large prospective cohort. If validated, this method could provide an alternative tool to intensivists, to better evaluate neurological outcome and improve patient management, without neurophysiologist assistance.
Breastfeeding and respiratory, ear and gastro-intestinal infections, in children, under the age of one year, admitted through the paediatric emergency departments of five hospitals
Authors: Branger Bernard , Bainier Amaïa , Martin Laureen , Darviot Estelle , Forgeron Aude , Sarthou Laurent , Wagner Anne-Claire , Blanchais Thomas , Brigly Thomas , Troussier Françoise 
Published: February 2023

BackgroundBreastfeeding is a protective factor against respiratory and intestinal infections in developing countries. In developed countries, proof of this protection is more difficult to show. The objective of the study is to compare the proportion of children breastfed during their first year in groups of children with infectious pathologies supposedly prevented by breastfeeding and children free of these infectious pathologies.MethodQuestionnaires about diet, socio-demographic data and the motive for consultation were given to the parents upon arrival in the paediatric emergency departments of 5 hospitals located in Pays de Loire (France) in 2018 and 2019. Children with lower respiratory tract infections, acute gastroenteritis and acute otitis media were included in the case group (A), children admitted for other reasons were included in the same control group (B). Breastfeeding was classified as exclusive or partial.ResultsDuring the study period, 741 infants were included, of which 266 (35.9%) in group A. In this group, children were significantly less likely to have been breastfed at the time of admission than children in group B: for example, for children under 6 months, 23.3% were currently breastfed in group A, vs. 36.6% (weaned BF or formula diet) in group B [OR = 0.53 (0.34–0.82); p = 0.004]. Similar results were found at 9 and 12 months. After taking into account the age of the patients, the same results were confirmed with an aOR = 0.60 (0.38–0.94) (p = 0.02) at 6 months, but with when considering six variables six variables, aOR was not significative aOR = 0.65 (0.40–1.05); p = 0.08), meaning that factors such as the childcare out of home, socio-professional categories, and the pacifier decrease the protective effect of breastfeeding. Sensitivity analyses (age-matching, analysis by type of infection) showed the same protection effect provided by breastfeeding when it was pursued for at least 6 months and also that the protective effect of breastfeeding is especially true against gastro-enteritis.ConclusionBreastfeeding is a protective factor against respiratory, gastrointestinal and ear infections when pursued at least 6 months after birth. Other factors such as collective childcare, pacifiers and low parental professional status can reduce the protective effect of breastfeeding.
A multicenter clinical study on parent-implemented early intervention for children with global developmental delay
Authors: Dong Ping , Xu Qiong , Zhang Ying , Li Dong-yun , Zhou Bing-rui , Hu Chun-chun , Liu Chun-xue , Tang Xin-rui , Fu Shi-yun , Zhang Lan , Li Hai-feng , Jia Fei-yong , Tong Xiu-bin , Wang Jie , Li Hui-ping , Xu Xiu 
Published: February 2023

ObjectiveEarly identification and intervention for children with global developmental delay (GDD) can significantly improve their prognosis and reduce the possibility of developing intellectual disability in the future. This study aimed to explore the clinical effectiveness of a parent-implemented early intervention program (PIEIP) for GDD, providing a research basis for the extended application of this intervention strategy in the future.MethodsDuring the period between September 2019 and August 2020, children aged 3 to 6 months diagnosed with GDD were selected from each research center as the experimental group and the control group. For the experimental group, the PIEIP intervention was conducted for the parent-child pair. Mid-term and end-stage assessments were performed, respectively, at 12 and 24 months of age, and parenting stress surveys were completed.ResultsThe average age of the enrolled children was 4.56 ± 1.08 months for the experimental group (n = 153) and 4.50 ± 1.04 months for the control group (n = 153). The comparative analysis of the variation in the progress between the two groups by independent t-test showed that, after the experimental intervention, the developmental quotient (DQ) of locomotor, personal-social, and language, as well as the general quotient (GQ) of the Griffiths Mental Development Scale-Chinese (GDS-C), the children in the experimental group demonstrated higher progress than those in the control group (P &lt; 0.05). Furthermore, there was a significant decrease in the mean standard score of dysfunctional interaction, difficult children and the total level of parental stress in the term test for the experimental groups (P &lt; 0.001 for all).ConclusionsPIEIP intervention can significantly improve the developmental outcome and prognosis of children with GDD, especially in the areas of locomotor, personal-social, and language.
Oral exploration and food selectivity: A case-control study conducted in a multidisciplinary outpatient setting
Authors: Bellaïche Marc , Leblanc Véronique , Viala Jérôme , Jung Camille 
Published: February 2023

BackgroundPediatric feeding disorders (PFDs) are common, and their great phenotypic variability reflects the breadth of the associated nosological profiles. PFDs should be assessed and managed by multidisciplinary teams. Our study aimed to describe clinical signs of feeding difficulties in a group of PFD patients assessed by such a team, and to compare them with children in a control group.MethodsIn this case-control study, case group patients 1 to 6 years old were consecutively recruited through the multidisciplinary unit for the treatment of pediatric feeding difficulties based at Robert Debré Teaching Hospital in Paris, France. Children with an encephalopathy, severe neurometabolic disorder, or genetic syndrome (suspected or confirmed) were excluded. Members of the control group, consisting of children with no feeding difficulties (i.e., Montreal Children's Hospital Feeding Scale scores below 60) or severe chronic diseases, were recruited from a day care center and 2 kindergartens. Data from medical histories and clinical examination related to mealtime practices, oral motor skills, neurodevelopment, sensory processing, and any functional gastrointestinal disorders (FGIDs) were recorded and compared between groups.ResultsIn all, 244 PFD cases were compared with 109 controls (mean ages: cases, 3.42 [±1.47]; controls, 3.32 [±1.17]; P = 0.55). Use of distractions during meals was much more among PFD children (cases, 77.46%; controls, 5.5%; P &lt; 0.001), as was conflict during meals. While the groups did not differ in their members’ hand-mouth coordination or ability to grab objects, cases began exploring their environments later; mouthing, especially, was less common in the case group (cases, n = 80 [32.92%]; controls, n = 102 [94.44%]; P &lt; 0.001). FGIDs and signs of visual, olfactory, tactile, and oral hypersensitivity were significantly more frequent among cases.ConclusionInitial clinical assessments showed that, in the children with PFDs, normal stages of environmental exploration were altered, and that this was often associated with signs of sensory hypersensitivity and digestive discomfort.
Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
Authors: Tran Van Khanh , Diep Quang Minh , Zilong Qiu , Phuong Le Thi , Tran Hai Anh , Van Tung Nguyen , Lien Nguyen Thi Kim , Xuan Nguyen Thi , Ha Le Thi , Van Ta Thanh , Tran Thinh Huy , Hoang Nguyen Huy 
Published: February 2023

BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability to control dehydration and regulate temperature and are more susceptible to infections. They also face respiratory failure and feeding problems. These clinical symptoms are factors associated with high mortality rates of neonates with HI. Until now, there are still no effective treatments for HI patients and most patients die in the newborn period. Mutation in the ABCA12 gene, which encodes an adenosine triphosphate-binding cassette (ABC) transporter, has been demonstrated as the major cause of HI.Case presentationIn this study, we report the case who is one infant that was born prematurely at 32 gestational weeks with the whole body covered with thick plate-like scales of skin. The infant was severely infected with mild edema, multiple cracked skins full of the body, yellow discharge, and necrosis of fingers and toes. The infant was suspected to be affected by HI. Whole exome sequencing (WES) was performed as a tool for detecting the novel mutation in one prematurely born Vietnam infant with HI phenotype. And after that, the mutation was confirmed by the Sanger sequencing method in the patient and the members of his family. In this case, one novel mutation c.6353C &gt; G (p.S2118X, Hom) in the ABCA12 gene, was detected in the patient. The mutation has not been reported in any HI patients previously. This mutation was also found in a heterozygous state in the members of the patient's family, including his parents, an older brother, and an older sister who are no symptoms.ConclusionsIn this study, we identified a novel mutation in a Vietnamese patient with HI by whole exome sequencing. The results for the patient and the members of his family will be helpful in understanding the etiology of the disease, diagnosing carriers, assisting in genetic counseling, and emphasizing the need for DNA-based prenatal screening for families with a history of the disease.
Caudate gray matter volumes and risk of relapse in Type A alcohol-dependent patients: A 7-year MRI follow-up study
Authors: Martelli Catherine , Artiges Eric , Miranda Rubén , Romeo Bruno , Petillion Amélie , Aubin Henri-Jean , Amirouche Ammar , Chanraud Sandra , Benyamina Amine , Martinot Jean-Luc 
Published: February 2023

BackgroundWhether alteration in regional brain volumes can be detected in Type A alcoholics both at baseline and after a long follow-up remains to be confirmed. Therefore, we examined volume alterations at baseline, and longitudinal changes in a small follow-up subsample.MethodsIn total of 26 patients and 24 healthy controls were assessed at baseline using magnetic resonance imaging and voxel-based morphometry, among which 17 patients and 6 controls were re-evaluated 7 years later. At baseline, regional cerebral volumes of patients were compared to controls. At follow-up, three groups were compared: abstainers (n = 11, more than 2 years of abstinence), relapsers (n = 6, &lt;2 years of abstinence), and controls (n = 6).ResultsThe cross-sectional analyses detected, at both times, higher caudate nuclei volumes bilaterally in relapsers compared to abstainers. In abstainers, the longitudinal analysis indicated recovery of normal gray matter volumes in the middle and inferior frontal gyrus, and in the middle cingulate, while white matter volumes recovery was detected in the corpus callosum and in anterior and superior white matter specific regions.ConclusionsOverall, the present investigation revealed larger caudate nuclei in the relapser AUD patient group both at baseline and at follow-up in the cross-sectional analyses. This finding suggest that a higher caudate volume could be a candidate risk factor of relapse. In patients with specific type A alcohol-dependence, we showed that long-term recovery in fronto-striato-limbic GM and WM volumes occurs during long-term abstinence. These results support the crucial role of frontal circuitry in AUD.
Attentional vigilance of food information in disordered eating behaviors
Authors: Jin Luyao , Han Wenyue , Zheng Zheng 
Published: February 2023

IntroductionDisordered eating behaviors (DEBs) are very common among female college students, which seriously endanger their health and well-being. Therefore, the study of the mechanism of DEBs can provide effective evidence for early detection and intervention.MethodsIn total of 54 female college students were recruited and assigned to DEB group (n = 29) and healthy control (HC) group (n = 25) according to their scores in the Eating Attitudes Test-26 (EAT-26). Then, the Exogenous Cueing Task (ECT) was used to evaluate their reaction time (RT) to the location of a target dot preceded by a food or neutral cue.ResultsThe study found that compared with HC group, DEB group showed more attentional engagement to food stimuli, indicating that attentional vigilance to food information could be considered as a specific attentional bias of DEBs.DiscussionOur findings not only provide evidence of the potential mechanism of DEBs from the perspective of attentional bias, but also can be considered as an effective and objective indicator for early screening of subclinical eating disorders (EDs).