bluuebunny/crossref_metadata_2025_split huggingface dataset:
RPP30 is a novel diagnostic and prognostic biomarker for gastric cancer
Authors: Kan Ying , Lu Xia , Feng Lijuan , Yang Xu , Ma Huan , Gong Jianhua , Yang Jigang 
Published: July 2022

Objective: This study aimed to identify the hub gene in gastric cancer (GC) tumorigenesis. A biomarker prediction model was constructed and analyzed, and protein expression in histopathological samples was verified in a validation cohort.Methods: Differentially expressed genes (DEGs) were identified from GC projects in The Cancer Genome Atlas (TCGA) database. Functional enrichment analysis of DEGs was performed between the high- and low- Ribonuclease P protein subunit p30 (RPP30) expression groups. ROC analysis was performed to assess RPP30 expression to discriminate GC from normal tissues. Functional enrichment pathways and immune infiltration of DEGs were analyzed using GSEA and ssGSEA. Survival analysis and nomogram construction were performed to predict patient survival. Immunohistochemical staining of GC tissues was performed to validate RPP30 expression in GC and paracancerous samples.Results: Gene expression data and clinical information of 380 cases (375 GC samples and 32 para-cancerous tissues) were collected from TCGA database. The AUC for RPP30 expression was found to be 0.785. The G alpha S signaling pathway was the most significantly enriched signaling pathway. Primary therapy outcome (p &lt; 0.001, HR = 0.243, 95% CI = 0.156–0.379), age (p = 0.012, HR = 1.748, 95% CI = 1.133–2.698), and RPP30 expression (p &lt; 0.001, HR = 2.069, 95% CI = 1.346–3.181) were identified as independent prognostic factors. As a quantitative approach, a nomogram constructed based on RPP30 expression, age, and primary therapy outcome performed well in predicting patient survival. Nineteen of the 25 tissue samples from the validation cohort showed positive RPP30 expression in GC tissues, whereas 16 cases showed negative RPP30 staining in normal tissues. The difference between the two was statistically significant.Conclusion: High RPP30 expression was significantly correlated with disease progression and poor survival in GC, promoting tumorigenesis and angiogenesis via tRNA dysregulation. This study provides new and promising insights into the molecular pathogenesis of tRNA in GC.
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
Authors: Dharmadhikari Avinash V. , Pereira Elaine M. , Andrews Carli C . , Macera Michael , Harkavy Nina , Wapner Ronald , Jobanputra Vaidehi , Levy Brynn , Ganapathi Mythily , Liao Jun 
Published: July 2022

Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which may, to some extent, account for the variable spectrum of observed phenotypes. We report here a pregnancy conceived using intrauterine insemination in a 32-year-old female with a history of infertility. Non-invasive prenatal screening (NIPS) was performed in the first trimester which reported an increased risk for trisomy 13. Follow-up cytogenetic workup using chorionic villus sampling (CVS) and amniotic fluid samples showed a mosaic karyotype with a small supernumerary marker chromosome (sSMC). Chromosomal microarray analysis (CMA) identified a mosaic 31.34 Mb terminal gain on chr13q31.1q34 showing the likely origin of the sSMC to distal chromosome 13q. Follow-up metaphase FISH testing suggested an inverted duplication rearrangement involving 13q31q34 in the marker chromosome and the presence of a neocentromere. At 21 months of age, the proband has a history of gross motor delay, hypotonia, left microphthalmia, strabismus, congenital anomaly of the right optic nerve, hemangiomas, and a tethered spinal cord. Postnatal chromosome analyses in buccal, peripheral blood, and spinal cord ligament tissues were consistent with the previous amniocentesis and CVS findings, and the degree of mosaicism varied from 25 to 80%. It is often challenging to pinpoint the chromosomal identity of sSMCs using banding cytogenetics. A combination of low-pass genome sequencing of cell-free DNA, chromosomal microarray, and FISH enabled the identification of the precise chromosomal rearrangement in this patient. This study adds to the growing list of clinically identified neocentric marker chromosomes and is the first described instance of partial tetrasomy 13q31q34 identified in a mosaic state prenatally. Since NIPS is now being routinely performed along with invasive testing for advanced maternal age, an increased prenatal detection rate for mosaic sSMCs in otherwise normal pregnancies is expected. Future studies investigating how neocentromeres mediate gene expression changes could help identify potential epigenetic targets as treatment options to rescue or reverse the phenotypes seen in patients with congenital neocentromeres.
Health professional student’s volunteering activities during the COVID-19 pandemic: A systematic literature review
Authors: Umar Tungki Pratama , Samudra Muhammad Galang , Nashor Kemas Muhammad Naufal , Agustini Dessy , Syakurah Rizma Adlia 
Published: July 2022

BackgroundThe Coronavirus Disease 2019 (COVID-19) crisis has forced health and education services to use additional human resources, such as health professional students. Students in the health professions, particularly those in the medical field, can participate in a variety of voluntary activities, both directly and indirectly in health services. The aim of this review was to determine the affecting factors, types of activity, and benefits of undertaking a volunteering role by the health professional student.MethodsA systematic review of health professional student volunteering during the COVID-19 pandemic was conducted using seven databases: Epistemonikos, ProQuest, Scopus, EBSCOhost, JSTOR, Cochrane Library, and PubMed. This literature search included published articles from March 2020 through to December 2021 using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 guidelines.ResultWe included 41 studies that met the selection criteria that assessed the factors and specific programs related to health profession students’ volunteering involvement during the COVID-19 pandemic era. The most frequently observed supporting factor of the eagerness to be a volunteer was the feeling of moral responsibility (such as social dedication, sense of duty, and care), potential learning opportunities, personal interest, and financial compensation. Factors that contributed to a person’s refusal to participate in a volunteer position were the fear of COVID-19 itself (such as transmission, risk of being infected, and personal identification as a risk group).ConclusionThe review of available literature has shown that understanding the motivation and barriers to the willingness of health professional students to volunteer and the impact of volunteering activities on their future lives is a key for supporting them.
Toward Personalized Interventions for Psoriasis Vulgaris: Molecular Subtyping of Patients by Using a Metabolomics Approach
Authors: Dai Dan , He Chunyan , Wang Shuo , Wang Mei , Guo Na , Song Ping 
Published: July 2022

Aim: Psoriasis vulgaris (PV) is a complicated autoimmune disease characterized by erythema of the skin and a lack of available cures. PV is associated with an increased risk of metabolic syndrome and cardiovascular disease, which are both mediated by the interaction between systemic inflammation and aberrant metabolism. However, whether there are differences in the lipid metabolism between different levels of severity of PV remains elusive. Hence, we explored the molecular evidence for the subtyping of PV according to alterations in lipid metabolism using serum metabolomics, with the idea that such subtyping may contribute to the development of personalized treatment.Methods: Patients with PV were recruited at a dermatology clinic and classified based on the presence of metabolic comorbidities and their Psoriasis Area and Severity Index (PASI) from January 2019 to November 2019. Age- and sex-matched healthy controls were recruited from the preventive health department of the same institution for comparison. We performed targeted metabolomic analyses of serum samples and determined the correlation between metabolite composition and PASI scores.Results: A total of 123 participants, 88 patients with PV and 35 healthy subjects, were enrolled in this study. The patients with PV were assigned to a “PVM group” (PV with metabolic comorbidities) or a “PV group” (PV without metabolic comorbidities) and further subdivided into a “mild PV” (MP, PASI &lt;10) and a “severe PV” (SP, PASI ≥10) groups. Compared with the matched healthy controls, levels of 27 metabolites in the MP subgroup and 28 metabolites in the SP subgroup were found to be altered. Among these, SM (d16:0/17:1) and SM (d19:1/20:0) were positively correlated with the PASI in the MP subgroup, while Cer (d18:1/18:0), PC (18:0/22:4), and PC (20:0/22:4) were positively correlated with the PASI in the SP subgroup. In the PVM group, levels of 17 metabolites were increased, especially ceramides and phosphatidylcholine, compared with matched patients from the PV group. In addition, the correlation analysis indicated that Cer (d18:1/18:0) and SM (d16:1/16:1) were not only correlated with PASI but also has strongly positive correlations with biochemical indicators.Conclusion: The results of this study indicate that patients with PV at different severity levels have distinct metabolic profiles, and that metabolic disorders complicate the disease development. These findings will help us understand the pathological progression and establish strategies for the precision treatment of PV.
Speed of Processing (SoP) Training Plus α-tACS in People With Mild Cognitive Impairment: A Double Blind, Parallel, Placebo Controlled Trial Study Protocol
Authors: Leite Jorge , Gonçalves Óscar F. , Carvalho Sandra 
Published: July 2022

Several cognitive training programs, alone or in combination with non-invasive brain stimulation have been tested in order to ameliorate age-related cognitive impairments, such as the ones found in Mild Cognitive Impairment (MCI). However, the effects of Cognitive Training (CT)—combined or not—with several forms of non-invasive brain stimulation have been modest at most. We aim to assess if Speed of Processing (SoP) training combined with alpha transcranial alternating current stimulation (α-tACS) is able to increase speed of processing as assessed by the Useful Field of View (UFOV), when comparing to SoP training or active α-tACS alone. Moreover, we want to assess if those changes in speed of processing transfer to other cognitive domains, such as memory, language and executive functioning by using the NIH EXAMINER. We also want to test the mechanisms underlying these interventions, namely brain connectivity and coherence as assessed by electroencephalography (EEG). To that purpose, our proposal is to enroll 327 elders diagnosed with MCI in a double-blinded, parallel randomized clinical trial assessing the effects of combining SoP with alpha endogenous tACS (either active or sham) in people with MCI. Participants will perform an intervention that will last for 15 sessions. For the first 3 weeks, participants will receive nine sessions of the intervention, and then will receive two sessions per week (i.e., booster) for the following 3 weeks. They will then be assessed at 1, 3, and 6 months after the intervention has ended. This will allow us to detect the immediate, and long-term effects of the interventions, as well as to probe the mechanisms underlying its effects.Clinical Trial Registration:Clinicaltrials.gov, Identifier: NCT05198726.
Proteomic Profiling of Plasma Biomarkers Associated With Return to Sport Following Concussion: Findings From the NCAA and Department of Defense CARE Consortium
Authors: Vorn Rany , Mithani Sara , Devoto Christina , Meier Timothy B. , Lai Chen , Yun Sijung , Broglio Steven P. , McAllister Thomas W. , Giza Christopher C. , Kim Hyung-Suk , Huber Daniel , Harezlak Jaroslaw , Cameron Kenneth L. , McGinty Gerald , Jackson Jonathan , Guskiewicz Kevin M. , Mihalik Jason P. , Brooks Alison , Duma Stefan , Rowson Steven , Nelson Lindsay D. , Pasquina Paul , McCrea Michael A. , Gill Jessica M. 
Published: July 2022

ObjectiveTo investigate the plasma proteomic profiling in identifying biomarkers related to return to sport (RTS) following a sport-related concussion (SRC).MethodsThis multicenter, prospective, case-control study was part of a larger cohort study conducted by the NCAA-DoD Concussion Assessment, Research, and Education (CARE) Consortium, athletes (n = 140) with blood collected within 48 h of injury and reported day to asymptomatic were included in this study, divided into two groups: (1) recovery &lt;14-days (n = 99) and (2) recovery ≥14-days (n = 41). We applied a highly multiplexed proteomic technique that uses DNA aptamers assay to target 1,305 proteins in plasma samples from concussed athletes with &lt;14-days and ≥14-days.ResultsWe identified 87 plasma proteins significantly dysregulated (32 upregulated and 55 downregulated) in concussed athletes with recovery ≥14-days relative to recovery &lt;14-days groups. The significantly dysregulated proteins were uploaded to Ingenuity Pathway Analysis (IPA) software for analysis. Pathway analysis showed that significantly dysregulated proteins were associated with STAT3 pathway, regulation of the epithelial mesenchymal transition by growth factors pathway, and acute phase response signaling.ConclusionOur data showed the feasibility of large-scale plasma proteomic profiling in concussed athletes with a &lt;14-days and ≥ 14-days recovery. These findings provide a possible understanding of the pathophysiological mechanism in neurobiological recovery. Further study is required to determine whether these proteins can aid clinicians in RTS decisions.
Characterizing the evolution of oculomotor and vestibulo-ocular function over time in children and adolescents after a mild traumatic brain injury
Authors: Crampton Adrienne , Schneider Kathryn J. , Grilli Lisa , Chevignard Mathilde , Katz-Leurer Michal , Beauchamp Miriam H. , Debert Chantel , Gagnon Isabelle J. 
Published: July 2022

BackgroundImpairments to oculomotor (OM) and vestibulo-ocular reflex (VOR) function following pediatric mTBI have been demonstrated but are poorly understood. Such impairments can be associated with more negative prognosis, affecting physical and mental wellbeing, emphasizing the need to more fully understand how these evolve.Objectivesto determine i) the extent to which performance on clinical and computerized tests of OM and VOR function varies over time in children and adolescents at 21 days, 3-, and 6-months post-mTBI; ii) the proportion of children and adolescents with mTBI presenting with abnormal scores on these tests at each timepoint.DesignProspective longitudinal design.SettingTertiary care pediatric hospital.Participants36 participants with mTBI aged 6 to18.ProceduresParticipants were assessed on a battery of OM and VOR tests within 21 days, at 3- and 6-months post injury.Outcome measuresClinical measures: Vestibular/ocular motor screening tool (VOMS) (symptom provocation and performance); Computerized measures: reflexive saccade test (response latency), video head impulse test (VOR gain), and dynamic visual acuity test (LogMAR change).AnalysisGeneralized estimating equations (parameter estimates and odd ratios) estimated the effect of time. Proportions above and below normal cut-off values were determined.ResultsOur sample consisted of 52.8% females [mean age 13.98 (2.4) years, assessed on average 19.07 (8–33) days post-injury]. Older children performed better on visual motion sensitivity (OR 1.43, p = 0.03) and female participants worse on near point of convergence (OR 0.19, p = 0.03). Change over time (toward recovery) was demonstrated by VOMS overall symptom provocation (OR 9.90, p = 0.012), vertical smooth pursuit (OR 4.04, p = 0.03), voluntary saccade performance (OR 6.06, p = 0.005) and right VOR gain (0.068, p = 0.013). Version performance and VOR symptom provocation showed high abnormal proportions at initial assessment.DiscussionResults indicate impairments to the VOR pathway may be present and driving symptom provocation. Vertical smooth pursuit and saccade findings underline the need to include these tasks in test batteries to comprehensively assess the integrity of OM and vestibular systems post-mTBI.ImplicationsFindings demonstrate 1) added value in including symptom and performance-based measures in when OM and VOR assessments; 2) the relative stability of constructs measured beyond 3 months post mTBI.
Adherence to a Paleolithic Diet in Combination With Lifestyle Factors Reduces the Risk for the Presence of Non-Alcoholic Fatty Liver Disease: A Case-Control Study
Authors: Sohouli Mohammad Hassan , Fatahi Somaye , Izze da Silva Magalhães Elma , Rodrigues de Oliveira Bianca , Rohani Pejman , Ezoddin Neda , Roshan Mehdi Mehdinezhad , Hekmatdoost Azita 
Published: July 2022

BackgroundEvidence suggests the role of changing traditional lifestyle patterns, such as Paleolithic, to the modern lifestyle in the incidence and epidemic of chronic diseases. The purpose of this study was to investigate the associations between the Paleolithic diet (PD) and the Paleolithic-like lifestyle and the risk of non-alcoholic fatty liver disease (NAFLD) among an adult population.Materials and MethodsThis case-control study was carried out among 206 patients with NAFLD and 306 healthy subjects aged &gt;18 years. PD score was evaluated using a validated 168-item quantitative food frequency questionnaire. In addition, to calculate the Paleolithic-like lifestyle score, the components of physical activity, body mass index (BMI), and smoking status of the participants were combined with the score of the PD.ResultsThe mean PD and Paleolithic-like lifestyle scores were 38.11 ± 5.63 and 48.92 ± 6.45, respectively. After adjustment for potential confounders, higher scores of adherence to the PD diet conferred a protection for the presence of NAFLD [odds ratio (OR): 0.53; 95% confidence interval (CI): 0.28–0.98; P for trend = 0.021]. Furthermore, PD and healthy lifestyle habits were negatively associated with NAFLD (OR = 0.42, 95% CI 0.23–0.78; P for trend = 0.007).ConclusionOur data suggest that the PD alone and in combination with lifestyle factors was associated with decreased risk of NAFLD in a significant manner in the overall population. However, prospective studies are needed to further investigate this association.
GNG12 as A Novel Molecular Marker for the Diagnosis and Treatment of Glioma
Authors: Liu Runze , Liu Zhendong , Zhao Yaoye , Cheng Xingbo , Liu Binfeng , Wang Yanbiao , Wang Jialin , Lian Xiaoyu , Zhu Yongjie , Gao Yanzheng 
Published: July 2022

PurposeGNG12 influences a variety of tumors; however, its relationship with glioma remains unclear. The aim of this study was to comprehensively investigate the relationship between GNG12 and the clinical characteristics and prognosis of glioma patients and reveal the mechanisms causing the malignant process of GNG12.Materials and MethodsWe obtained information on clinical samples from multiple databases. The expression level of GNG12 was validated using a RT-qPCR and IHC. KM curves were used to assess the correlation between the GNG12 expression and OS of glioma patients. An ROC curve was drawn to assess the predictive performance of GNG12. Univariate and multivariate Cox analyses were performed to analyze the factors affecting the prognosis of patients with glioma. GSEA and TIMER databases were used to estimate the relationship between GNG12 expression, possible molecular mechanisms, and immune cell infiltration. CMap analysis was used to screen candidate drugs for glioma. Subsequent in vitro experiments were used to validate the proliferation and migration of glioma cells and to explore the potential mechanisms by which GNG12 causes poor prognosis in gliomas.ResultsGNG12 was overexpressed in glioma patients and GNG12 expression level correlated closely with clinical features, including age and histological type, etc. Subsequently, the K-M survival analysis indicated that the expression level of GNG12 was relevant to the prognosis of glioma, and the ROC curve implied that GNG12 can predict glioma stability. Univariate and multivariate analyses showed that GNG12 represents a risk factor for glioma occurrence. GNG12 expression is closely associated with some immune cells. Additionally, several in vitro experiments demonstrated that down-regulation of GNG12 expression can inhibits the proliferation and migration capacity of glioma cells. Ultimately, the results for the GSEA and WB experiments revealed that GNG12 may promote the malignant progression of gliomas by regulating the cell adhesion molecule cell signaling pathway.ConclusionIn this study, we identified GNG12 as a novel oncogene elevated in gliomas. Reducing GNG12 expression inhibits the proliferation and migration of glioma cells. In summary, GNG12 can be used as a novel biomarker for the early diagnosis of human gliomas and as a potential therapeutic target.
The Role of Clonal Evolution on Progression, Blood Parameters, and Response to Therapy in Multiple Myeloma
Authors: Sandmann Sarah , Karsch Katharina , Bartel Peter , Exeler Rita , Brix Tobias J. , Mai Elias K. , Varghese Julian , Lenz Georg , Khandanpour Cyrus 
Published: July 2022

IntroductionA variety of biomarkers are considered for diagnosis (e.g., β2-microgobulin, albumin, or LDH) and prognosis [e.g., cytogenetic aberrations detected by fluorescence in situ hybridization (FISH)] of multiple myeloma (MM). More recently, clonal evolution has been established as key. Little is known on the clinical implications of clonal evolution.MethodsWe performed in-depth analyses of 25 patients with newly diagnosed MM with respect to detailed clinical information analyzing blood samples collected at several time points during follow-up (median follow-up: 3.26 years since first diagnosis). We split our cohort into two subgroups: with and without new FISH clones developing in the course of disease.ResultsEach subgroup showed a characteristic chromosomal profile. Forty-three percent of patients had evidence of appearing new clones. The patients with new clones showed an increased number of translocations affecting chromosomes 14 (78% vs. 33%; p = 0.0805) and 11, and alterations in chromosome 4 (amplifications and translocations). New clones, on the contrary, were characterized by alterations affecting chromosome 17. Subsequent to the development of the new clone, 6 out of 9 patients experienced disease progression compared to 3 out of 12 for patients without new clones. Duration of the therapy applied for the longest time was significantly shorter within the group of patients developing new clones (median: 273 vs. 406.5 days; p = 0.0465).DiscussionWe demonstrated that the development of new clones, carrying large-scale alterations, was associated with inferior disease course and shorter response to therapy, possibly affecting progression-free survival and overall survival as well. Further studies evaluating larger cohorts are necessary for the validation of our results.