bluuebunny/crossref_metadata_2025 huggingface dataset:
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study
Authors: Iskrov Georgi , Raycheva Ralitsa , Kostadinov Kostadin , Gillner Sandra , Blankart Carl Rudolf , Gross Edith Sky , Gumus Gulcin , Mitova Elena , Stefanov Stefan , Stefanov Georgi , Stefanov Rumen
Published: January 2024

Background

The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group. We aim to explore the expectations and experiences of the members of the European Reference Networks (ERNs) for RDs with those technologies and their potential for application.

Methods

We used a mixed-methods approach with an online survey followed by a focus group discussion. Our study targeted primarily medical professionals but also other individuals affiliated with any of the 24 ERNs.

Results

The online survey yielded 423 responses from ERN members. Participants reported a limited degree of knowledge of and experience with ML technologies. They considered improved diagnostic accuracy the most important potential benefit, closely followed by the synthesis of clinical information, and indicated the lack of training in these new technologies, which hinders adoption and implementation in routine care. Most respondents supported the option that ML should be an optional but recommended part of the diagnostic process for RDs. Most ERN members saw the use of ML limited to specialised units only in the next 5 years, where those technologies should be funded by public sources. Focus group discussions concluded that the potential of ML technologies is substantial and confirmed that the technologies will have an important impact on healthcare and RDs in particular. As ML technologies are not the core competency of health care professionals, participants deemed a close collaboration with developers necessary to ensure that results are valid and reliable. However, based on our results, we call for more research to understand other stakeholders’ opinions and expectations, including the views of patient organisations.

Conclusions

We found enthusiasm to implement and apply ML technologies, especially diagnostic tools in the field of RDs, despite the perceived lack of experience. Early dialogue and collaboration between health care professionals, developers, industry, policymakers, and patient associations seem to be crucial to building trust, improving performance, and ultimately increasing the willingness to accept diagnostics based on ML technologies.
Mitochondrial CISD1/Cisd accumulation blocks mitophagy and genetic or pharmacological inhibition rescues neurodegenerative phenotypes in Pink1/parkin models
Authors: Martinez Aitor , Sanchez-Martinez Alvaro , Pickering Jake T. , Twyning Madeleine J. , Terriente-Felix Ana , Chen Po-Lin , Chen Chun-Hong , Whitworth Alexander J.
Published: January 2024

Background

Mitochondrial dysfunction and toxic protein aggregates have been shown to be key features in the pathogenesis of neurodegenerative diseases, such as Parkinson’s disease (PD). Functional analysis of genes linked to PD have revealed that the E3 ligase Parkin and the mitochondrial kinase PINK1 are important factors for mitochondrial quality control. PINK1 phosphorylates and activates Parkin, which in turn ubiquitinates mitochondrial proteins priming them and the mitochondrion itself for degradation. However, it is unclear whether dysregulated mitochondrial degradation or the toxic build-up of certain Parkin ubiquitin substrates is the driving pathophysiological mechanism leading to PD. The iron-sulphur cluster containing proteins CISD1 and CISD2 have been identified as major targets of Parkin in various proteomic studies.

Methods

We employed in vivo Drosophila and human cell culture models to study the role of CISD proteins in cell and tissue viability as well as aged-related neurodegeneration, specifically analysing aspects of mitophagy and autophagy using orthogonal assays.

Results

We show that the Drosophila homolog Cisd accumulates in Pink1 and parkin mutant flies, as well as during ageing. We observed that build-up of Cisd is particularly toxic in neurons, resulting in mitochondrial defects and Ser65-phospho-Ubiquitin accumulation. Age-related increase of Cisd blocks mitophagy and impairs autophagy flux. Importantly, reduction of Cisd levels upregulates mitophagy in vitro and in vivo, and ameliorates pathological phenotypes in locomotion, lifespan and neurodegeneration in Pink1/parkin mutant flies. In addition, we show that pharmacological inhibition of CISD1/2 by rosiglitazone and NL-1 induces mitophagy in human cells and ameliorates the defective phenotypes of Pink1/parkin mutants.

Conclusion

Altogether, our studies indicate that Cisd accumulation during ageing and in Pink1/parkin mutants is a key driver of pathology by blocking mitophagy, and genetically and pharmacologically inhibiting CISD proteins may offer a potential target for therapeutic intervention.

Graphical Abstract
Serum levels of PDGF-CC as a potential biomarker for the diagnosis of Kawasaki disease
Authors: Zhang Jing , Yang Penghui , Liu Yihao , Chen Zhuo , Wu Jinhui , Feng Siqi , Yi Qijian
Published: January 2024

Background

Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology that predominantly affects children, and no specific diagnostic biomarkers for KD are available. Platelet-derived growth factor CC (PDGF-CC) is a peptide with angiogenic properties that has been amply demonstrated to play a critical role in the cardiovascular system. This study aimed to investigate the serum expression of PDGF-CC in children with KD and to evaluate the ability of PDGF-CC to diagnose KD.

Methods

A total of 96 subjects, including 59 KD patients, 17 febrile controls (FC), and 20 healthy controls (HC), were enrolled. Serum levels of PDGF-CC were measured via enzyme-linked immunosorbent assay. The associations between PDGF-CC and clinical laboratory parameters were investigated by correlation analysis. The diagnostic performance was assessed by receiver operating characteristic (ROC) curve analysis.

Results

Serum PDGF-CC levels in the KD group were significantly higher than in the FC and HC groups. Serum PDGF-CC levels in the KD group were positively correlated with white blood cell counts, percentage of neutrophils, IL-2, IL-12p70, TNF-α, and IL-1β levels, and negatively correlated with the percentage of lymphocytes. In the analysis of ROC curves, the area under the curve was 0.796 (95% confidence interval 0.688–0.880; P < 0.0001) for PDGF-CC and increased to 0.900 (95% confidence interval 0.808–0.957; P < 0.0001) in combination with white blood cell counts and C-reactive protein.

Conclusions

PDGF-CC is a potential biomarker for KD diagnosis, and the combination with white blood cell counts and C-reactive protein can further improve diagnostic performance.
Current hospital policies on breastfeeding: a survey from Italy
Authors: Davanzo Riccardo , Travan Laura , Giannì Maria Lorella , Giordano Giuseppe , Perugi Silvia , Baldassarre Mariella , Soldi Antonella , Colombo Lorenzo , Mondello Isabella , Pandullo Michela , Ferrara Alessia , Scarpato Elena , Salvatori Guglielmo
Published: January 2024

Background

The availability of an appropriate newborn feeding policy is an essential component of the promotion of breastfeeding in health facilities. The Italian Society of Neonatology (SIN) and the Italian Society of Paediatrics (SIP) have run an online survey among Maternity Hospitals to explore the existing breastfeeding policies and their characteristics.

Methods

Between February and April 2023, an online survey was carried out among 110 Italian maternity hospitals with a Neonatal Intensive Care Unit (NICU).

Results

Forty-nine Maternity Hospitals completed the online questionnaire. Twenty out of 49 (40.8%) reported to have a breastfeeding policy. When a policy is available, its quality appears to be suboptimal because of lack of inclusion of a family representative in the policy working group, limited options for translating breastfeeding policy into minority languages, lack of periodic assessment of their implementation.

Conclusion

Currently, only a limited number of Italian Maternity Hospitals have developed a breastfeeding policy. Additional efforts are needed for their improvement as well as implementation.
Acute otitis media diagnosis in childhood: still a problem in 2023?
Authors: Folino Francesco , Caruso Marco , Bosi Pietro , Aldè Mirko , Torretta Sara , Marchisio Paola
Published: January 2024

Background

Diagnosis of acute otitis media (AOM) in children can be challenging, given that symptoms are often non-specific or absent, and that the direct observation of the tympanic membrane in its entirety through otoscopy can sometimes be difficult. The aim of this study is to assess the diagnostic concordance in detection of AOM episodes between primary care paediatricians and physicians especially trained in paediatric otoscopy, and to characterize the most misleading elements in diagnostic failure.

Methods

Consecutive clinical charts of children regularly followed for recurrent AOM (RAOM, i.e.: >3 episodes in 6 months or > 4 episodes in 1 year) at our Otitis Media paediatric outpatient clinic were retrospectively screened, in order to collect any diagnosis of AOM episode (and the related clinical findings/middle ear complaints) performed by primary care paediatricians/emergency room paediatricians. Diagnosis of AOM episode was validated by the same experienced physician (FF) in case of otoscopic relief of a bulging eardrum with at least one of the following: hyperaemia or yellow-like colour. The diagnostic concordance in detection of AOM episodes between primary care/emergency room paediatricians and our internal validator was expressed as the percentage of matching diagnosis.

Results

One hundred and thirty-four single AOM episodes occurring in 87 children (mean age: 26.9 +/- 18.9 months) were included in the analysis. Diagnostic concordance in detection of AOM episodes between primary care/emergency room paediatricians and our internal validator was reported in 72.4% of cases. The most common pitfall found in our study was the misleading diagnosis of AOM in case of hyperaemic tympanic membrane without bulging (32/37 out of non-validated diagnoses).

Conclusions

AOM diagnosis still represents a relevant issue among paediatricians in our country, and the presence of tympanic membrane hyperaemia without concomitant bulging can be confusing.
Standard vs. targeted oxygen therapy prehospitally for chronic obstructive pulmonary disease (STOP-COPD): study protocol for a randomised controlled trial
Authors: Jensen Arne Sylvester Rønde , Valentin Jan Brink , Mulvad Mathilde Gundgaard , Hagenau Victor , Skaarup Søren Helbo , Johnsen Søren Paaske , Væggemose Ulla , Gude Martin Faurholdt
Published: January 2024

Background

A high concentration of inspired supplemental oxygen may possibly cause hypercapnia and acidosis and increase mortality in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). Even so, patients with AECOPD are being treated with high oxygen flow rates when receiving inhalation drugs in the prehospital setting. A cluster-randomised controlled trial found that reduced oxygen delivery by titrated treatment reduced mortality—a result supported by observational studies—but the results have never been reproduced. In the STOP-COPD trial, we investigate the effect of titrated oxygen delivery compared with usual care consisting of high flow oxygen delivery in patients with AECOPD in the prehospital setting.

Methods

In this randomised controlled trial, patients will be blinded to allocation. Patients with suspected AECOPD (n = 1888) attended by the emergency medical service (EMS) and aged > 40 years will be allocated randomly to either standard treatment or titrated oxygen, targeting a blood oxygen saturation of 88–92% during inhalation therapy. The trial will be conducted in the Central Denmark Region and include all ambulance units. The power to detect a 3% 30-day mortality risk difference is 80%. The trial is approved as an emergency trial. Hence, EMS providers will include patients without prior consent.

Discussion

The results will provide evidence on whether titrated oxygen delivery outperforms standard high flow oxygen when used to nebulise inhaled bronchodilators in AECOPD treatment. The trial is designed to ensure unselected inclusion of patients with AECOPD needing nebulised bronchodilators—a group of patients that receives high oxygen fractions when treated in the prehospital setting where the only compressed gas is generally pure oxygen. Conducting this trial, we aim to improve treatment for people with AECOPD while reducing their 30-day mortality.

Trial registration

European Union Clinical Trials (EUCT) number: 2022-502003-30-00 (authorised 06/12/2022), ClinicalTrials.gov number: NCT05703919 (released 02/02/2023), Universal trial number: U1111-1278-2162.
Dysregulated lncRNAs regulate human umbilical cord mesenchymal stem cell differentiation into insulin-producing cells by forming a regulatory network with mRNAs
Authors: Xie Tianqin , Huang Qiming , Huang Qiulan , Huang Yanting , Liu Shuang , Zeng Haixia , Liu Jianping
Published: January 2024

Objective

In recent years, cell therapy has emerged as a new research direction in the treatment of diabetes. However, the underlying molecular mechanisms of mesenchymal stem cell (MSC) differentiation necessary to form such treatment have not been clarified.

Methods

In this study, human umbilical cord mesenchymal stem cells (HUC-MSCs) isolated from newborns were progressively induced into insulin-producing cells (IPCs) using small molecules. HUC-MSC (S0) and four induced stage (S1–S4) samples were prepared. We then performed transcriptome sequencing experiments to obtain the dynamic expression profiles of both mRNAs and long noncoding RNAs (lncRNAs).

Results

We found that the number of differentially expressed lncRNAs and mRNAs trended downwards during differentiation. Gene Ontology (GO) analysis showed that the target genes of differentially expressed lncRNAs were associated with translation, cell adhesion, and cell connection. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed that the NF-KB signalling pathway, MAPK signalling pathway, HIPPO signalling pathway, PI3K–Akt signalling pathway, and p53 signalling pathway were enriched in these differentially expressed lncRNA-targeting genes. We also found that the coexpression of the lncRNA CTBP1-AS2 with PROX1 and the lncRNAs AC009014.3 and GS1-72M22.1 with JARID2 mRNA was related to the development of pancreatic beta cells. Moreover, the coexpression of the lncRNAs: XLOC_ 050969, LINC00883, XLOC_050981, XLOC_050925, MAP3K14- AS1, RP11-148K1.12, and CTD2020K17.3 with p53, regulated insulin secretion by pancreatic beta cells.

Conclusion

In this study, HUC-MSCs combined with small molecule compounds were successfully induced into IPCs. Differentially expressed lncRNAs may regulate the insulin secretion of pancreatic beta cells by regulating multiple signalling pathways. The lncRNAs AC009014.3, Gs1-72m21.1, and CTBP1-AS2 may be involved in the development of pancreatic beta cells, and the lncRNAs: XLOC_050969, LINC00883, XLOC_050981, XLOC_050925, MAP3K14-AS1, RP11-148K1.12, and CTD2020K17.3 may be involved in regulating the insulin secretion of pancreatic beta cells, thus providing a lncRNA catalogue for future research regarding the mechanism of the transdifferentiation of HUC-MSCs into IPCs. It also provides a new theoretical basis for the transplantation of insulin-producing cells into diabetic patients in the future.

Graphical Abstract
Research trends in contemporary health economics: a scientometric analysis on collective content of specialty journals
Authors: Zwack Clara C. , Haghani Milad , de Bekker-Grob Esther W.
Published: January 2024

Introduction

Health economics is a thriving sub-discipline of economics. Applied health economics research is considered essential in the health care sector and is used extensively by public policy makers. For scholars, it is important to understand the history and status of health economics—when it emerged, the rate of research output, trending topics, and its temporal evolution—to ensure clarity and direction when formulating research questions.

Methods

Nearly 13,000 articles were analysed, which were found in the collective publications of the ten most specialised health economic journals. We explored this literature using patterns of term co-occurrence and document co-citation.

Results

The research output in this field is growing exponentially. Five main research divisions were identified: (i) macroeconomic evaluation, (ii) microeconomic evaluation, (iii) measurement and valuation of outcomes, (iv) monitoring mechanisms (evaluation), and (v) guidance and appraisal. Document co-citation analysis revealed eighteen major research streams and identified variation in the magnitude of activities in each of the streams. A recent emergence of research activities in health economics was seen in the Medicaid Expansion stream. Established research streams that continue to show high levels of activity include Child Health, Health-related Quality of Life (HRQoL) and Cost-effectiveness. Conversely, Patient Preference, Health Care Expenditure and Economic Evaluation are now past their peak of activity in specialised health economic journals. Analysis also identified several streams that emerged in the past but are no longer active.

Conclusions

Health economics is a growing field, yet there is minimal evidence of creation of new research trends. Over the past 10 years, the average rate of annual increase in internationally collaborated publications is almost double that of domestic collaborations (8.4% vs 4.9%), but most of the top scholarly collaborations remain between six countries only.
Effectiveness of gold nanoparticles in prevention and treatment of oral mucositis in animal models: a systematic review
Authors: Choudhury Minati , Brunton Paul , Schwass Donald , Pletzer Daniel , Ratnayake Jithendra , Dias George , Tompkins Geoffrey
Published: January 2024

Background

Oral mucositis remains a significant complication during cancer therapy with no effective treatment. Gold nanoparticles offer anti-inflammatory, antioxidant properties with low toxicity. This study systematically reviews the literature assessing gold nanoparticles in the management of oral mucositis in animal models.

Methods

A literature search was undertaken using MEDLINE, Embase, PubMed, and Web of Science databases, using the format for Systematic Review Centre for Laboratory Animal Experimentation. Prior to the review, the protocol was registered in the systematic review register, PROSPERO (registration no. CRD42021272169). Outcome measures included ulceration, histopathological scores, inflammatory mediators, microbial growth, and pain. Study quality was analysed by SYRCLE risk-of-bias tool.

Results

Only one study met the inclusion criteria, documenting reduction in ulceration, inflammatory, and oxidative biomarkers. Exposure to AuNPs prevented inflammatory response induced by 5-fluorouracil in oral mucosa of hamsters. However, a high risk of bias necessitates further research.

Conclusion

This review identifies a potential therapeutic strategy for prevention and management of oral mucositis. It also provides future direction for gold nanoparticle research in oral mucositis; however, there is lack of sufficient evidence to derive any conclusion. Research with standardized parameters including nanoparticle size, capping agent, surface charge, and appropriate oral mucositis animal models will establish risk–benefit balance and margin of safety for therapeutic use of gold nanoparticles for oral mucositis.
How gender and low mental health literacy are related to unmet need for mental healthcare: a cross-sectional population-based study in Sweden
Authors: Blom Sara , Lindh Frida , Lundin Andreas , Burström Bo , Hensing Gunnel , Löve Jesper
Published: January 2024

Background

Men are more likely to have unmet need for mental healthcare than women. However, an under-investigated aspect of the gender difference is the role of mental health literacy. This study investigated how combinations of gender and mental health literacy were related to two indicators of unmet need: not perceiving a need for mental healthcare despite poor mental health, and refraining from seeking mental healthcare.

Methods

This cross-sectional study was based on a questionnaire sent to a general population sample, aged 16–84 years, in Stockholm County, Sweden, in 2019. Of the 1863 respondents (38%), 1563 were included (≥18 years). The sample was stratified into four groups, men and women with low or high mental health literacy, using the third quartile of the Mental Health Knowledge Schedule. The likelihood of not perceiving a need for mental healthcare and refraining from seeking mental healthcare, at any time in life, were investigated by calculating odds ratios with 95% confidence intervals.

Results

Men with low mental health literacy were most likely to not perceive a need for mental healthcare, also when adjusting for age, education, and poor mental health (OR 5.3, 95% CI 3.6–7.7), and to refrain from seeking mental healthcare, also when adjusting for age and education (OR 3.3, 95% CI 1.7–6.4), followed by men with high mental health literacy (OR 1.9, 95% CI 1.5–2.4, and OR 1.5, 95% CI 1.0-2.2) and women with low mental health literacy (OR 1.9, 95% CI 1.2–2.9, and OR 2.1, 95% CI 1.1–3.9). Women with high mental health literacy were least likely (reference group).

Conclusion

The results show differences in the likelihood of unmet need for mental healthcare based on combinations of gender and mental health literacy level, with men having low mental health literacy being most at risk, and women with high mental health literacy being least at risk. This challenges generalisations of a gender difference in unmet need by showing heterogeneity among men and women based on mental health literacy. Men with low mental health literacy may be particularly in need of targeted interventions to reduce potential individual and societal consequences of their unmet need.
Healthcare-associated infections and antimicrobial use in acute care hospitals in Greece, 2022; results of the third point prevalence survey
Authors: Palaiopanos Konstantinos , Krystallaki Dimitra , Mellou Kassiani , Kotoulas Petros , Kavakioti Christina-Anna , Vorre Styliani , Vertsioti Georgia , Gkova Maria , Maragkos Antonios , Tryfinopoulou Kyriaki , Paraskevis Dimitrios , Tsiodras Sotirios , Zaoutis Theoklis
Published: January 2024

Background

The burden of healthcare-associated infections (HAIs) and the extent of antimicrobial use (AU) are periodically recorded through Point Prevalence Surveys (PPS) in acute care hospitals coordinated by the European Centre for Disease Prevention and Control (ECDC). In previous PPSs, Greece demonstrated increased HAI and AU prevalence: 9% and 54.7% in 2011–2012, and 10% and 55.6% in 2016–2017, respectively. The 2022 PPS aimed to estimate HAIs and AU indicators among inpatients, especially amid the COVID-19 pandemic.

Methods

A cross-sectional study was conducted in 50 hospitals during October-December 2022, in Greece. Patients admitted before 8.00 a.m. of the survey day were observed. Patients with at least one HAI or receiving at least one antimicrobial agent were included. Data were collected by hospital infection control teams. Hospital and ward-level variables were analysed.

Results

From 9,707 inpatients, 1,175 had at least one HAI (12.1%), and 5,376 were receiving at least one antimicrobial (55.4%). Intensive care unit patients had the highest HAI (45.7%) and AU (71.3%) prevalence. Of the 1,408 recorded HAIs, lower respiratory tract (28.9%), bloodstream (20%), and urinary tract infections (13.1%) were the most common. Among 1,259 isolates, Klebsiella (20.5%) and Acinetobacter (12.8%) were most frequently identified. Resistance to first-level antibiotic markers was 69.3%. Among the 9,003 antimicrobials, piperacillin-tazobactam (10.9%), and meropenem (7.7%) were frequently prescribed. The ratio of broad-spectrum to narrow-spectrum antibiotics was 1.4. As defined by the 2021 WHO AWaRe (Access, Watch, Reserve) classification, restricted classes of Watch and Reserve agents comprised 76.7% of antibiotics. Usual indications were treatment of community-acquired infections (34.6%) and HAIs (22.9%). For surgical prophylaxis, cefoxitin was commonly used (20.2%), and typical courses (75.7%) lasted more than one day. HAI and AU prevalence were positively associated with bed occupancy (p = 0.027) and secondary hospitals (p = 0.014), respectively.

Conclusions

The 2022 PPS highlighted the increasing trend of HAI prevalence and high AU prevalence in Greece, the emergence of difficult-to-treat pathogens, and the extensive use of broad-spectrum antimicrobials. Strengthening infection control and antimicrobial stewardship programs in hospital settings is essential.
Proteomics to predict relapse in patients with myelodysplastic neoplasms undergoing allogeneic hematopoietic cell transplantation
Authors: Guru Murthy Guru Subramanian , Zhang Tao , Bolon Yung-Tsi , Spellman Stephen , Dong Jing , Auer Paul , Saber Wael
Published: January 2024

Disease relapse remains a major barrier to success after allogeneic hematopoietic cell transplantation (allo-HCT) in myelodysplastic neoplasms (MDS). While certain high risk genomic alterations are associated with increased risk of relapse, there is a lack of clinically applicable tools to analyze the downstream cellular events that are associated with relapse. We hypothesized that unique proteomic signatures in MDS patients undergoing allo-HCT could serve as a tool to understand this aspect and predict relapse. Using the Center for International Blood and Marrow Transplant Research (CIBMTR) database, we identified 52 MDS patients who underwent allo-HCT and analyzed their proteomic profile from pretransplant blood samples in a matched case-control design. Twenty-six patients without disease relapse after allo-HCT (controls) were matched with 26 patients who experienced relapse (cases). Proteomics assessment was conducted using the Slow Off-rate Modified Aptamers (SOMAmer) based assay. In gene set enrichment analysis, we noted that expression in the hallmark complement, and hallmark allograft rejection pathways were statistically enriched among patients who had disease relapse post-transplant. In addition, correlation analyses showed that methylation array probes in cis- and transcription regulatory elements of immune pathway genes were modulated and differentially sensitize the immune response. These findings suggest that proteomic analysis could serve as a novel tool for prediction of relapse after allo-HCT in MDS.
Ribosome profiling: a powerful tool in oncological research
Authors: Su Dan , Ding Chen , Qiu Jiangdong , Yang Gang , Wang Ruobing , Liu Yueze , Tao Jinxin , Luo Wenhao , Weng Guihu , Zhang Taiping
Published: January 2024

Neoplastic cells need to adapt their gene expression pattern to survive in an ever-changing or unfavorable tumor microenvironment. Protein synthesis (or mRNA translation), an essential part of gene expression, is dysregulated in cancer. The emergence of distinct translatomic technologies has revolutionized oncological studies to elucidate translational regulatory mechanisms. Ribosome profiling can provide adequate information on diverse aspects of translation by aiding in quantitatively analyzing the intensity of translating ribosome-protected fragments. Here, we review the primary currently used translatomics techniques and highlight their advantages and disadvantages as tools for translatomics studies. Subsequently, we clarified the areas in which ribosome profiling could be applied to better understand translational control. Finally, we summarized the latest advances in cancer studies using ribosome profiling to highlight the extensive application of this powerful and promising translatomic tool.
The implementation of peer assessment as a scaffold during computer-supported collaborative inquiry learning in secondary STEM education
Authors: Van Hoe Amber , Wiebe Joel , Rotsaert Tijs , Schellens Tammy
Published: January 2024

Background

Computer-supported collaborative inquiry learning (CSCiL) has been proposed as a successful learning method to foster scientific literacy. This research aims to bridge the knowledge gap surrounding the role of peers as scaffolding sources in CSCiL environments. The primary objective is to explicitly implement peer assessment as a scaffolding tool to enhance students' inquiry output in terms of research question, data, and conclusion. Additionally, students’ perceptions of peer assessment within CSCiL are explored.

Results

The study involved 9th and 10th-grade students from 12 schools (N = 382), exploring the effects of peer assessment with and without peer dialogue. The results highlight that while adjustments were more frequently made to the research question and data, adjustments to the conclusion showed significantly greater improvement. Furthermore, students’ perceptions of peer assessment during CSCiL were examined, revealing that students generally perceive peer assessment as fair and useful, and they accept it while being willing to make improvements based on the feedback. While students did not report experiencing negative feelings, they also did not report positive emotions from the process. Additionally, the study found that including a peer dialogue in the peer assessment process did not significantly impact the abovementioned findings.

Conclusions

This study enriches our understanding of peer assessment as a scaffolding tool in CSCiL, highlighting its potential to improve inquiry outputs and providing valuable insights for instructional design and implementation.
The Use of Biofluid Markers to Evaluate the Consequences of Sport-Related Subconcussive Head Impact Exposure: A Scoping Review
Authors: Lember Liivia-Mari , Ntikas Michail , Mondello Stefania , Wilson Lindsay , Di Virgilio Thomas G. , Hunter Angus M. , Kobeissy Firas , Mechref Yehia , Donaldson David I. , Ietswaart Magdalena
Published: January 2024

Background

Amidst growing concern about the safety of sport-related repetitive subconcussive head impacts (RSHI), biofluid markers may provide sensitive, informative, and practical assessment of the effects of RSHI exposure.

Objective

This scoping review aimed to systematically examine the extent, nature, and quality of available evidence from studies investigating the effects of RSHI on biofluid markers, to identify gaps and to formulate guidelines to inform future research.

Methods

PRISMA extension for Scoping Reviews guidelines were adhered to. The protocol was pre-registered through publication. MEDLINE, Scopus, SPORTDiscus, CINAHL, PsycINFO, Cochrane Library, OpenGrey, and two clinical trial registries were searched (until March 30, 2022) using descriptors for subconcussive head impacts, biomarkers, and contact sports. Included studies were assessed for risk of bias and quality.

Results

Seventy-nine research publications were included in the review. Forty-nine studies assessed the acute effects, 23 semi-acute and 26 long-term effects of RSHI exposure. The most studied sports were American football, boxing, and soccer, and the most investigated markers were (in descending order): S100 calcium-binding protein beta (S100B), tau, neurofilament light (NfL), glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE), brain-derived neurotrophic factor (BDNF), phosphorylated tau (p-tau), ubiquitin C-terminal hydrolase L1 (UCH-L1), and hormones. High or moderate bias was found in most studies, and marker-specific conclusions were subject to heterogeneous and limited evidence. Although the evidence is weak, some biofluid markers—such as NfL—appeared to show promise. More markedly, S100B was found to be problematic when evaluating the effects of RSHI in sport.

Conclusion

Considering the limitations of the evidence base revealed by this first review dedicated to systematically scoping the evidence of biofluid marker levels following RSHI exposure, the field is evidently still in its infancy. As a result, any recommendation and application is premature. Although some markers show promise for the assessment of brain health following RSHI exposure, future large standardized and better-controlled studies are needed to determine biofluid markers’ utility.
Reevaluating the relevance of 18F-FDG PET findings for diagnosis of neurosarcoidosis: a case series
Authors: Chen Jessy , Metzger Giulia , Furth Christian , Bohner Georg , Siffrin Volker
Published: January 2024

Objective

The diagnosis of neurosarcoidosis (NS) remains challenging due to the difficulty to obtain central nervous system (CNS) biopsies. Various diagnostic parameters are considered for the definition of possible, probable and definite NS. Magnetic resonance imaging (MRI) is the imaging gold standard and considered in diagnostic criteria. Fluorodeoxyglucose positron emission (18F-FDG PET) is sometimes performed additionally to identify possible systemic biopsy targets. However, at present, its findings are not incorporated into the diagnostic criteria for neurosarcoidosis (NS).

Methods

We conducted a single center retrospective search for the period 2020–2022, for patients with neurological symptoms in a diagnostic context of suspected NS who underwent MRI and additional 18F-FDG PET scans to identify potential hypermetabolism in the CNS and biopsy targets.

Results

We identified three cases of NS, where Gadolinium-enhanced MRI scans did not show abnormalities while 18F-FDG PET revealed hypermetabolic lesions in areas of the CNS. Additional MRI scans were still inconclusive for structural changes. We diagnosed a “probable” NS in all cases with histopathological confirmation of systemic sarcoidosis which led to an intensified therapy regime.

Discussion

18F-FDG PET is an early indicator for metabolic changes. It appears to be a useful add-on to improve accuracy of diagnostic criteria in suspected NS without MRI findings.
Random noise attenuation of 3D multicomponent seismic data using a fast adaptive prediction filter
Authors: Wang Zhiyong , Liu Guochang , Li Chao , Shi Lanting , Wang Zixu
Published: January 2024

Random noise in seismic records affects the accuracy of effective signal identification, making it difficult for subsequent seismic data processing, imaging, and interpretation. Therefore, random noise attenuation has always been an important step in seismic data processing, especially for 3D data. In recent years, multicomponent exploration has been developed rapidly. However, the common method for processing multicomponent data is to process each component separately resulting in the correlation between multicomponent data being neglected. For 3D multicomponent data, we develop a multicomponent adaptive prediction filter (MAPF) based on noncausal regularized nonstationary autoregressive models to implement random noise attenuation in the t- x- y domain. The MAPF for multicomponent signals can be used to identify the potential correlations and differences between each pair of components, providing not only a robust analysis of the individual components but also effective information about the consistency and differences between each component with more information and constraints compared with traditional 1C prediction. Moreover, it can obtain smooth nonstationary prediction coefficients by solving the least-squares problem with shaping regularization. The example results demonstrate that the MAPF method is superior to the traditional adaptive prediction filtering method. Furthermore, because the multicomponent method requires more coefficients and takes a longer time to predict than the 1C method, we further develop a fast MAPF (FMAPF) combining the data pooling and coefficient reconstruction strategies. The example results demonstrate that the FMAPF method is effective at denoising and greatly improves computational efficiency. The method comes with a slight decrease in computational accuracy.
Therapeutic efficacy of probiotics for symptoms of attention-deficit hyperactivity disorder in children and adolescents: meta-analysis
Authors: Liang Shun-Chin , Sun Cheuk-Kwan , Chang Chih-Hua , Cheng Yu-Shian , Tzang Ruu-Fen , Chiu Hsien-Jane , Wang Ming Yu , Cheng Ying-Chih , Hung Kuo-Chuan
Published: January 2024

Background

The efficacy of probiotics as a therapeutic alternative for attention-deficit hyperactivity disorder (ADHD) remain unclear.

Aims

To investigate the effectiveness of probiotics for symptoms of ADHD and identify possible factors affecting their efficacy.

Method

Randomised placebo-controlled trials were identified through searching major databases from inception to April 2023, using the main keywords ‘probiotics’ and ‘ADHD’ without limitation on languages or geographic locations. The outcome of interest included improvement in total symptoms of ADHD, symptoms of inattention and hyperactivity/impulsivity, and drop-out rate. Continuous and categorical data were expressed as effect sizes based on standardised mean differences (SMDs) and odds ratios, respectively, with 95% confidence intervals.

Results

Meta-analysis of seven trials involving 379 participants (mean age 10.37 years, range 4–18 years) showed no significant improvement in total symptoms of ADHD (SMD = 0.25; P = 0.12), symptoms of inattention (SMD = 0.14; P = 0.3) or hyperactivity/impulsivity (SMD = 0.08; P = 0.54) between the probiotic and placebo groups. Despite non-significance on subgroup analyses, there was a large difference in effect size between studies using probiotics as an adjunct to methylphenidate and those using probiotics as supplementation (SMD = 0.84 v. 0.07; P = 0.16), and a moderate difference in effect size between studies using multiple strains of probiotics and those using single-strain regimens (SMD = 0.45 v. 0.03; P = 0.19).

Conclusions

Current evidence shows no significant difference in therapeutic efficacy between probiotics and placebos for treatment of ADHD symptoms. However, albeit statistically non-significant, higher therapeutic efficacies associated with multiple-strain probiotics or combining probiotics with methylphenidate may provide direction for further research.
The effects of antipsychotic discontinuation or maintenance on the process of recovery in remitted first-episode psychosis patients – A systematic review and meta-analysis of randomized controlled trials
Authors: Béchard Laurent , Desmeules Charles , Bachand Lauryann , Huot-Lavoie Maxime , Corbeil Olivier , Anderson Elizabeth , Brodeur Sébastien , LeBlanc Annie , Demers Marie-France , Lauzier Sophie , Roy Marc-André
Published: January 2024

Background

The optimal duration of antipsychotic treatment following remission of first-episode psychosis (FEP) is uncertain, considering potential adverse effects and individual variability in relapse rates. This study aimed to investigate the effect of antipsychotic discontinuation compared to continuation on recovery in remitted FEP patients.

Methods

CENTRAL, MEDLINE (Ovid), Embase, and PsycINFO databases were searched on November 2, 2023, with no language restrictions. RCTs evaluating antipsychotic discontinuation in remitted FEP patients were selected. The primary outcome was personal recovery, and secondary outcomes included functional recovery, global functioning, hospital admission, symptom severity, quality of life, side effects, and employment. Risk of bias was assessed using the Cochrane risk-of-bias tool 2, and the certainty of evidence was evaluated with GRADE. Meta-analysis used a random-effect model with an inverse-variance approach.

Results

Among 2185 screened studies, 8 RCTs (560 participants) were included. No RCTs reported personal recovery as an outcome. Two studies measured functional recovery, and discontinuation group patients were more likely to achieve functional recovery (RR 2.19; 95% CIs: 1.13, 4.22; I2 = 0%; n = 128), although evidence certainty was very low. No significant differences were found in hospital admission, symptom severity, quality of life, global functioning, or employment between the discontinuation and continuation groups.

Conclusions

Personal recovery was not reported in any antipsychotic discontinuation trial in remitted FEP. The observed positive effect of discontinuation on functional recovery came from an early terminated trial and an RCT followed by an uncontrolled period. These findings should be interpreted cautiously due to very low certainty of evidence.
Analyzing Cancer Incidence Trends in Oman From 1996 to 2019: A Comprehensive Study of the National Cancer Annual Reports
Authors: Al-Sayegh Hasan , Al-Zadjali Shoaib , Al-Moundhri Mansour
Published: January 2024

PURPOSE

Previous studies have reported that cancer incidence trends in Oman varied by tumor site and sex. No comprehensive analysis of all cancer sites had been reported. The objective of this study is to analyze cancer incidence trends in Oman and calculate the annual percent change (APC) in age-standardized rates (ASRs) for all-cancer and 61 individual cancer sites in Omani men and women from 1996 to 2019.

METHODS

We gathered incidence data from The Omani National Cancer Registry for all cancers combined and individual tumor sites. We estimated the APC using Poisson regression.

RESULTS

The cancer ASR in the Omani population increased by 23% (from 95/100,000 in 1996 to 117.2/100,000 in 2019), with the increase being more pronounced in females (48% v 7% in males). Among the male population, there was significant increase in the ASRs of colon, rectum, thyroid, and prostate cancers, with APCs of 6.92%, 4.24%, 4.19%, and 2.03%, respectively. Among females, all-cancer incidence showed significant increase (APC = 1.39%), and increasing trends were observed in uterine, colon, rectum, thyroid, and breast cancers (APCs = 7.57%, 7.08%, 5.19%, 5.16%, and 4.19%, respectively).

CONCLUSION

The ASR of all-cancer increased significantly in Omani women but not in men. Uterine cancer had the highest APC. Colorectal cancer and thyroid ASR increased in both males and females. Breast and prostate cancers showed increasing trends. Further research is needed to explore factors contributing to increasing cancer incidences.
Anatomy and mechanisms of vocal production in harvest mice
Authors: Riede Tobias , Kobrina Anastasiya , Pasch Bret
Published: January 2024

Characterizing mechanisms of vocal production provides important insight into the ecology of acoustic divergence. In this study, we characterized production mechanisms of two types of vocalizations emitted by western harvest mice (Reithrodontomys megalotis), a species uniquely positioned to inform trait evolution because it is a sister taxon to peromyscines (Peromyscus and Onychomys spp.), which use vocal fold vibrations to produce long-distance calls, but more ecologically and acoustically similar to baiomyines (Baiomys and Scotinomys spp.), which employ a whistle mechanism. We found that long-distance calls (∼10 kHz) were produced by airflow-induced vocal fold vibrations, whereas high-frequency quavers used in close-distance social interactions (∼80 kHz) were generated by a whistle mechanism. Both production mechanisms were facilitated by a characteristic laryngeal morphology. Our findings indicate that the use of vocal fold vibrations for long-distance communication is widespread in reithrodontomyines (Onychomys, Peromyscus, Reithrodontomys spp.) despite overlap in frequency content that characterizes baiomyine whistled vocalizations. The results illustrate how different production mechanisms shape acoustic variation in rodents and contribute to ecologically relevant communication distances.
Male lake char release taurocholic acid as part of a mating pheromone
Authors: Buchinger Tyler J. , Li Ke , Bussy Ugo , Huerta Belinda , Tamrakar Sonam , Johnson Nicholas S. , Li Weiming
Published: January 2024

The evolutionary origins of sexual preferences for chemical signals remain poorly understood, due, in part, to scant information on the molecules involved. In the current study, we identified a male pheromone in lake char (Salvelinus namaycush) to evaluate the hypothesis that it exploits a non-sexual preference for juvenile odour. In anadromous char species, the odour of stream-resident juveniles guides migratory adults into spawning streams. Lake char are also attracted to juvenile odour but have lost the anadromous phenotype and spawn on nearshore reefs, where juvenile odour does not persist long enough to act as a cue for spawning site selection by adults. Previous behavioural data raised the possibility that males release a pheromone that includes components of juvenile odour. Using metabolomics, we found that the most abundant molecule released by males was also released by juveniles but not females. Tandem mass spectrometry and nuclear magnetic resonance were used to identify the molecule as taurocholic acid (TCA), which was previously implicated as a component of juvenile odour. Additional chemical analyses revealed that males release TCA at high rates via their urine during the spawning season. Finally, picomolar concentrations of TCA attracted pre-spawning and spawning females but not males. Taken together, our results indicate that male lake char release TCA as a mating pheromone and support the hypothesis that the pheromone is a partial match of juvenile odour.
Complementary and alternative system of medicine for type 2 diabetes mellitus and its complications: A scoping review
Authors: Parsekar Shradha S , Gudi Nachiket , Walke Sujata Chodankar , Shaw Prabhu Dutta , Hombali Aditi , Nayak Anupama V , Hadapad Basavaraj S
Published: January 2024

Background This review aims to map the evidence on the effectiveness of Complementary and Alternative Medicine (CAM) for Type 2 Diabetes Mellitus (T2DM) and its associated complications and identify research gaps in key outcomes and CAMs. Methods Our scoping review was informed by Johanna Briggs Institute guidelines. We searched electronic databases from inception to March 2020 and references of included studies. The experimental and non-randomized studies with intervention and control arm were mapped based on the effectiveness of various CAM (Yoga, Ayurveda, Homeopathy, Siddha, Naturopathy, Unani, and Sowa-rigpa) on outcomes among individuals with prediabetes or metabolic syndrome, and T2DM. Results A total of 249 studies were included after screening 3798 citations. Most of the included studies were conducted in India (30.52 %) and Iran (28.51 %). Of the 249 studies, 21 were efficacy, feasibility or pilot interventional studies. Most frequently studied CAM interventions include Ayurveda, and herbal products (58.63 %) followed by Yoga (20.88%). Unani medicines (n = 2 studies), Sowa-Rigpa (n = 1) and Homeopathy (n = 1) were the least studied modalities. With regards to population, 15 studies recruited newly diagnosed T2DM and 59 studies had included T2DM with comorbidity. Sixteen studies included population with mean ages 45-years or younger. Twenty-eight studies included pre-diabetic or metabolic syndrome, 46 studies included T2DM with no oral glycemic drugs, and 116 included T2DM with oral drugs. Blood sugars (fasting and postprandial) were the most measured outcomes. Outcomes such as HbA1c, lipid profiles, anthropometric measures, adverse effects were also assessed. Among complications, ulcer healing in diabetic foot ulcers was a commonly reported. Conclusion Future investments for research in CAM may focus on assessing the quality of existing trials and finding out an optimal dose, frequency, and duration of CAM that is beneficial, both as an alternative and complementary approach (or not) by carrying out a systematic review.