bluuebunny/crossref_metadata_2025 huggingface dataset:
Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH
Authors: Liu Yuzhao , Fan Xuesong , Qian Kun , Wu Changshun , Zhang Laibo , Yuan Lin , Man Zhentao , Wu Shuai , Li Ping , Wang Xianquan , Li Wei , Zhang Yuanqing , Sun Shui , Yu Chenxi
Published: June 2024

Background

Developmental Dysplasia of the Hip (DDH) is a skeletal disorder where late-presenting forms often escape early diagnosis, leading to limb and pain in adults. The genetic basis of DDH is not fully understood despite known genetic predispositions.

Methods

We employed Whole Genome Sequencing (WGS) to explore the genetic factors in late-presenting DDH in two unrelated families, supported by phenotypic analyses and in vitro validation.

Results

In both cases, a novel de novo heterozygous missense mutation in RAF1 (c.193A>G [p.Lys65Glu]) was identified. This mutation impacted RAF1 protein structure and function, altering downstream signaling in the Ras/ERK pathway, as demonstrated by bioinformatics, molecular dynamics simulations, and in vitro validations.

Conclusion

This study contributes to our understanding of the genetic factors involved in DDH by identifying a novel mutation in RAF1. The identification of the RAF1 mutation suggests a possible involvement of the Ras/ERK pathway in the pathogenesis of late-presenting DDH, indicating its potential role in skeletal development.
Clinical features in antiglycine receptor antibody-related disease: a case report and update literature review
Authors: Wu Xiaoke , Zhang Haifeng , Shi Mengmeng , Fang Shaokuan
Published: June 2024

Background and objectives

Antiglycine receptor (anti-GlyR) antibody mediates multiple immune-related diseases. This study aimed to summarize the clinical features to enhance our understanding of anti-GlyR antibody-related disease.

Methods

By collecting clinical information from admitted patients positive for glycine receptor (GlyR) antibody, the clinical characteristics of a new patient positive for GlyR antibody were reported in this study. To obtain additional information regarding anti-GlyR antibody-linked illness, clinical data and findings on both newly reported instances in this study and previously published cases were merged and analyzed.

Results

A new case of anti-GlyR antibody-related progressive encephalomyelitis with rigidity and myoclonus (PERM) was identified in this study. A 20-year-old man with only positive cerebrospinal fluid anti-GlyR antibody had a good prognosis with first-line immunotherapy. The literature review indicated that the common clinical manifestations of anti-GlyR antibody-related disease included PERM or stiff-person syndrome (SPS) (n = 179, 50.1%), epileptic seizure (n = 94, 26.3%), and other neurological disorders (n = 84, 24.5%). Other neurological issues included demyelination, inflammation, cerebellar ataxia and movement disorders, encephalitis, acute psychosis, cognitive impairment or dementia, celiac disease, Parkinson’s disease, neuropathic pain and allodynia, steroid-responsive deafness, hemiballism/tics, laryngeal dystonia, and generalized weakness included respiratory muscles. The group of PERM/SPS exhibited a better response to immunotherapy than others.

Conclusions

The findings suggest the presence of multiple clinical phenotypes in anti-GlyR antibody-related disease. Common clinical phenotypes include PERM, SPS, epileptic seizure, and paraneoplastic disease. Patients with RERM/SPS respond well to immunotherapy.
Functional autoantibodies against G protein-coupled receptors in hepatic and pulmonary hypertensions in human schistosomiasis
Authors: Botoni Fernando Antonio , Lambertucci José Roberto , Santos Robson Augusto Souza , Müller Johannes , Talvani Andre , Wallukat Gerd
Published: June 2024

Introduction

Schistosomiasis (SM) is a parasitic disease caused by Schistosoma mansoni. SM causes chronic inflammation induced by parasitic eggs, with collagen/fibrosis deposition in the granuloma process in the liver, spleen, central nervous system, kidneys, and lungs. Pulmonary arterial hypertension (PAH) is a clinical manifestation characterized by high pressure in the pulmonary circulation and right ventricular overload. This study investigated the production of functional autoantibodies (fAABs) against the second loop of the G-protein-coupled receptor (GPCR) in the presence of hepatic and PAH forms of human SM.

Methods

Uninfected and infected individuals presenting acute and chronic manifestations (e.g., hepatointestinal, hepato-splenic without PAH, and hepato-splenic with PAH) of SM were clinically evaluated and their blood was collected to identify fAABs/GPCRs capable of recognizing endothelin 1, angiotensin II, and a-1 adrenergic receptor. Human serum was analyzed in rat cardiomyocytes cultured in the presence of the receptor antagonists urapidil, losartan, and BQ123.

Results

The fAABs/GPCRs from chronic hepatic and PAH SM individuals, but not from acute SM individuals, recognized the three receptors. In the presence of the antagonists, there was a reduction in beating rate changes in cultured cardiomyocytes. In addition, binding sites on the extracellular domain functionality of fAABs were identified, and IgG1 and/or IgG3 antibodies were found to be related to fAABs.

Conclusion

Our data suggest that fAABs against GPCR play an essential role in vascular activity in chronic SM (hepatic and PAH) and might be involved in the development of hypertensive forms of SM.
Single-cell sequencing of the substantia nigra reveals microglial activation in a model of MPTP
Authors: Liu Qing , Liu Ziyu , Xie Wenmeng , Li Yibo , Wang Hongfang , Zhang Sanbing , Wang Wenyu , Hao Jiaxin , Geng Dandan , Yang Jing , Wang Lei
Published: June 2024

Background

N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) is a neurotoxin widely used to induce PD models, but the effect of MPTP on the cells and genes of PD has not been fully elucidated.

Methods

Single-nucleus RNA sequencing was performed in the Substantia Nigra (SN) of MPTP mice. UMAP analysis was used for the dimensionality reduction visualization of the SN in the MPTP mice. Known marker genes highly expressed genes in each cluster were used to annotate most clusters. Specific Differentially Expressed Genes (DEGs) and PD risk genes analysis were used to find MPTP-associated cells. GO, KEGG, PPI network, GSEA and CellChat analysis were used to reveal cell type-specific functional alterations and disruption of cell-cell communication networks. Subset reconstruction and pseudotime analysis were used to reveal the activation status of the cells, and to find the transcription factors with trajectory characterized.

Results

Initially, we observed specific DEGs and PD risk genes enrichment in microglia. Next, We obtained the functional phenotype changes in microglia and found that IGF, AGRN and PTN pathways were reduced in MPTP mice. Finally, we analyzed the activation state of microglia and revealed a pro-inflammatory trajectory characterized by transcription factors Nfe2l2 and Runx1.

Conclusion

Our work revealed alterations in microglia function, signaling pathways and key genes in the SN of MPTP mice.
Prospective cohort study evaluating efficacy and safety of efgartigimod in Chinese generalized myasthenia gravis patients
Authors: Wang Pan , Zhang Bo , Yin Jian , Xi Jianying , Tan Ying , Gao Feng , Zeng Fan , Chang Ting , Zhou Hao , Liang Hui , Zhao Zhongyan , Yang Huan , Zhao Chongbo , Huang Shixiong
Published: June 2024

Background

Despite the efficacy of efgartigimod demonstrated in ADAPT phase 3 trial, data specifically derived from Chinese participants are not available. Therefore, we aimed to evaluate the efficacy and safety of efgartigimod in Chinese patients with generalized myasthenia gravis (gMG).

Methods

This is a prospective cohort study conducted in 8 hospitals across China. gMG patients received weekly intravenous infusions of efgartigimod (10 mg/kg) under a named patient program (NPP). The present study is an 8-week study, consisting of 4 consecutive doses of efgartigimod administered over 3 weeks (one cycle), followed by a 5-week follow-up period to assess the tolerability of efgartigimod’s therapeutic effects. The primary outcome was the mean change in MG activities of daily living (MG-ADL) total score from baseline to 4 weeks. MG-ADL responder was defined as a ≥ 2-point improvement that persisted for 4 weeks, starting by week 4. Safety evaluations encompassed the monitoring of adverse events (AE) and serious AE (SAE) throughout the study.

Results

Between 5 July 2022 and 25 August 2023, a total of 14 gMG patients were included. The mean age was 57.7 years, with a mean MG-ADL score of 10.86 ± 3.32. At week 4, MG-ADL scores showed a mean reduction of 6 points, reaching a maximum decline of 13 points. Among the patients, 85.7% (12/14) achieved MG-ADL responder status after one cycle of treatment. The most significant reduction in quantitative MG (QMG) scores also occurred at week 4, with a mean decrease of 7 points. Notably, the improvements in MG-ADL and QMG scores persisted until week 8. During treatment and follow-up period, only two mild neck rashes occurred and resolved promptly. No infections or SAE were reported.

Discussion

A single cycle of efgartigimod treatment demonstrates effectiveness and the tolerability through week 8, with no new safety signals observed in Chinese gMG patients.
Case report: A case of primary cardiac malignant mesothelioma
Authors: Wang Ao , Liu Baohui , Dong Shengjun , Wang Yujiu
Published: June 2024

Primary cardiac malignant tumors are extremely rare, making up about 10% of all primary cardiac tumors. Most of these tumors are primary sarcomas, with primary mesothelioma being even less common. This report details a 53-year-old male patient diagnosed with primary cardiac malignant mesothelioma. The patient had symptoms of chest pain and difficulty breathing. A CT scan showed an enlarged heart, fluid around the heart, and irregular thickening of the pericardium. Diagnosis was confirmed through a surgical biopsy, which showed the presence of malignant mesothelioma. After the procedure, the patient received appropriate cardiac support. Although stable at discharge, the patient unfortunately died three months later due to severe wheezing. There may be a potential link between exposure to radioactive iodine treatment and this outcome. This case highlights the diagnostic and treatment challenges of primary cardiac malignant tumors and reminds physicians to consider this rare disease when evaluating patients with similar symptoms.
A pan-cancer analysis of EphA family gene expression and its association with prognosis, tumor microenvironment, and therapeutic targets
Authors: Cui Zhe , Liu Chengwang , Wang Xuechao , Xiang Yiping
Published: June 2024

Background

Erythropoietin-producing human hepatocellular (Eph) receptors stand out as the most expansive group of receptor tyrosine kinases (RTKs). Accumulating evidence suggests that within this expansive family, the EphA subset is implicated in driving cancer cell progression, proliferation, invasion, and metastasis, making it a promising target for anticancer treatment. Nonetheless, the extent of EphA family involvement across diverse cancers, along with its intricate interplay with immunity and the tumor microenvironment (TME), remains to be fully illuminated.

Methods

The relationships between EphA gene expression and patient survival, immunological subtypes, and TME characteristics were investigated based on The Cancer Genome Atlas (TCGA) database. The analyses employed various R packages.

Results

A significant difference in expression was identified for most EphA genes when comparing cancer tissues and non-cancer tissues. These genes independently functioned as prognostic factors spanning multiple cancer types. Moreover, a significant correlation surfaced between EphA gene expression and immune subtypes, except for EphA5, EphA6, and EphA8. EphA3 independently influenced the prognosis of papillary renal cell carcinoma (KIRP). This particular gene exhibited links with immune infiltration subtypes and clinicopathologic parameters, holding promise as a valuable biomarker for predicting prognosis and responsiveness to immunotherapy in patients with KIRP.

Conclusion

By meticulously scrutinizing the panorama of EphA genes in a spectrum of cancers, this study supplemented a complete map of the effect of EphA family in Pan-cancer and suggested that EphA family may be a potential target for cancer therapy.
Nomenclature of the symptoms of head and neck cancer: a systematic scoping review
Authors: Bradley Paula T. , Lee Ying Ki , Albutt Abigail , Hardman John , Kellar Ian , Odo Chinasa , Randell Rebecca , Rousseau Nikki , Tikka Theofano , Patterson Joanne M. , Paleri Vinidh
Published: June 2024

Introduction

Evolution of a patient-reported symptom-based risk stratification system to redesign the suspected head and neck cancer (HNC) referral pathway (EVEREST-HN) will use a broad and open approach to the nomenclature and symptomatology. It aims to capture and utilise the patient reported symptoms in a modern way to identify patients’ clinical problems more effectively and risk stratify the patient.

Method

The review followed the PRISMA checklist for scoping reviews. A search strategy was carried out using Medline, Embase and Web of Science between January 1st 2012 and October 31st 2023. All titles, abstracts and full paper were screened for eligibility, papers were assessed for inclusion using predetermined criteria. Data was extracted pertaining to the aims, type of study, cancer type, numbers of patients included and symptoms, presenting complaints or signs and symptoms.

Results

There were 9,331 publications identified in the searches, following title screening 350 abstracts were reviewed for inclusion and 120 were considered for eligibility for the review. 48 publications met the eligibility criteria and were included in the final review. Data from almost 11,000 HNC patients was included. Twenty-one of the publications were from the UK, most were retrospective examination of patient records. Data was extracted and charted according to the anatomical area of the head and neck where the symptoms are subjectively and objectively found, and presented according to lay terms for symptoms, clinical terms for symptoms and the language of objective clinical findings.

Discussion

Symptoms of HNC are common presenting complaints, interpreting these along with clinical history, examination and risk factors will inform a clinician’s decision to refer as suspected cancer. UK Head and Neck specialists believe a different way of triaging the referrals is needed to assess the clinical risk of an undiagnosed HNC. EVEREST-HN aims to achieve this using the patient history of their symptoms. This review has highlighted issues in terms of what is considered a symptom, a presenting complaint and a clinical finding or sign.
Structural and pharmacological insights into cordycepin for neoplasms and metabolic disorders
Authors: Zhang Jinming , Yang Ziling , Zhao Zhuo , Zhang Nan
Published: June 2024

Cytotoxic adenosine analogues were among the earliest chemotherapeutic agents utilised in cancer treatment. Cordycepin, a natural derivative of adenosine discovered in the fungus Ophiocordyceps sinensis, directly inhibits tumours not only by impeding biosynthesis, inducing apoptosis or autophagy, regulating the cell cycle, and curtailing tumour invasion and metastasis but also modulates the immune response within the tumour microenvironment. Furthermore, extensive research highlights cordycepin’s significant therapeutic potential in alleviating hyperlipidaemia and regulating glucose metabolism. This review comprehensively analyses the structure-activity relationship of cordycepin and its analogues, outlines its pharmacokinetic properties, and strategies to enhance its bioavailability. Delving into the molecular biology, it explores the pharmacological mechanisms of cordycepin in tumour suppression and metabolic disorder treatment, thereby underscoring its immense potential in drug development within these domains and laying the groundwork for innovative treatment strategies.
Case report: Acute severe hyponatremia-induced seizures in a newborn: a community-acquired case and literature review
Authors: Li Haiting , Chen Xiyang , Chen Linlin , Li Jie , Liu Xixi , Chen Caie , Xie Dengpan , Yuan Junhui , Tao Enfu
Published: June 2024

Severe neonatal hyponatremia represents a critical electrolyte imbalance with potentially severe neurological outcomes, a condition rarely documented in community-acquired, full-term newborns. This report underscores a unique case of a 23-day-old, previously healthy, full-term male neonate experiencing severe hyponatremia that precipitated seizures, underscoring the urgency of prompt recognition and intervention. The neonate presented with symptoms including vomiting, groaning, chills, fixed staring, and limb tremors. Critical findings upon admission encompassed hypothermia, hypotension, tachycardia, and tachypnea accompanied by significant weight loss. The clinical presentation was marked by dehydration, lethargy, weak crying, a fixed gaze, irregular breathing, and coarse lung sounds, yet a distended abdomen, hypertonic limb movements, and recurrent seizures were observed. Immediate interventions included establishing IV access, rewarming, mechanical ventilation, seizure management, volume expansion, dopamine for circulatory support, and initiation of empirical antibiotics. Diagnostic evaluations revealed a sodium ion concentration of 105.9 mmol/L, while amplitude-integrated electroencephalography (aEEG) detected pronounced seizure activity characterized by a lack of sleep-wake rhythmicity, noticeable elevation in both the lower and upper amplitude margins, and a sustained decrease in the lower margin voltage dropping below 5 μV, presenting as sharp or serrated waveforms. The management strategy entailed rapid electrolyte normalization using hypertonic saline and sodium bicarbonate, anticonvulsant therapy, and comprehensive supportive care, with continuous aEEG monitoring until the cessation of seizures. Remarkably, by the third day, the neonate’s condition had stabilized, allowing for discharge in good health 10 days post-admission. At a 16-month follow-up, the child exhibited no adverse neurological outcomes and demonstrated favorable growth and development. Our extensive review on the etiology, clinical manifestations, aEEG monitoring, characteristics of seizures induced by severe neonatal hyponatremia, treatment approaches, and the prognosis for seizures triggered by severe hyponatremia aims to deepen the understanding and enhance clinical management of this complex condition. It stresses the importance of early detection, accurate diagnosis, and customized treatment protocols to improve outcomes for affected neonates. Additionally, this review accentuates the indispensable role of aEEG monitoring in managing neonates at elevated risk for seizures. Yet, the safety and efficacy of swiftly administering hypertonic saline for correcting severe hyponatremia-induced seizures necessitate further investigation through medical research.
Current research update on group B streptococcal infection related to obstetrics and gynecology
Authors: Liu Ying , Ai Hao
Published: June 2024

Group B streptococcal (GBS) is a Gram-positive bacterium that is commonly found in the gastrointestinal tract and urogenital tract. GBS infestation during pregnancy is a significant contributor to maternal and neonatal morbidity and mortality globally. This article aims to discuss the infectious diseases caused by GBS in the field of obstetrics and gynecology, as well as the challenges associated with the detection, treatment, and prevention of GBS.
Phytochemistry, pharmacology, toxicology and detoxification of Polygonum multiflorum Thunb.: a comprehensive review
Authors: Qian Jiawen , Feng Chenhang , Wu Ziyang , Yang Yuanmei , Gao Xiangfu , Zhu Lingyan , Liu Yang , Gao Yuancheng
Published: June 2024

Background

Polygonum multiflorum Thunb. (PM), a kind of perennial plant, belongs to the genus Polygonum of the family polygonaceae.The dry root of PM (also called Heshouwu), is a traditional Chinese medicine, which has a series of functions and is widely used in clinic for hair lossing, aging, and insomnia. While, PM also has some toxicity, its clinical drug safety has been concerned. In this paper, the chemical components, toxic mechanisms and detoxification strategies of PM were reviewed in order to provide evidence for its clinical application.

Materials and methods

We conducted a systematic review of published literature of PM, including English and Chinese databases, such as PubMed, Web of Science, CNKI, and Wanfang.

Results

PM contains a variety of chemical compounds, including stilbenes, quinones, flavonoids, phospholipids, and has many pharmacological activities such as anti-aging, wound healing, antioxidant, and anti-inflammatory properties. The PE has certain therapeutic effect, and it has certain toxicity like hepatotoxicity, nephrotoxicity, and embryotoxicity at the same time, but.these toxic effects could be effectively reduced by processing and compatibility.

Conclusion

It is necessary to further explore the pharmacological and toxicological mechanisms of the main active compounds of PE.This article provides scientific basis for the safe clinical application of PM.
The association between unilateral and bilateral performance-related measures in elite female soccer players: a multifaceted investigation
Authors: Paravlic Armin Huso , Abazovic Ensar , Milanović Zoran , Vučković Goran , Spudić Darjan , Hadzic Vedran , Pajek Maja , Vodičar Janez
Published: June 2024

Purpose

The present study aimed to investigate a) the associations between bilateral performance utilizing countermovement jump (CMJ), squat jump (SJ), speed and unilateral CMJ, isokinetic peak torque in knee extension and flexion with angular velocities of 60°/s and 180°/s and tensiomyography (TMG) parameters; b) whether the asymmetries derived from unilateral tests are associated with bilateral CMJ, SJ and speed in elite female soccer players.

Methods

Thirty-five elite female soccer players (average age: 20 ± 5 years) completed CMJ, SJ, speed, isokinetic muscle strength and TMG tests.

Results

Compared to the non-dominant leg, the dominant leg demonstrated greater peak torque output in both knee flexion (7.4%) and knee extension (5.6%) isokinetic tasks, as well as m. vastus medialis contraction time (7.6%), and soccer-specific agility test (4.1%). Conversely, the hamstring to quadriceps peak torque ratio at 180°/s (8.5%) was significantly greater in the non-dominant leg. The associations between CMJ, SJ and speed performance were positive and ranged from weak (r = 0.350) to high (r = 0.710). For speed and TMG-derived variables, correlations were negative and ranged from weak (r = −0.345, p = 0.042, for vastus medialis contraction time) to moderate (r = −0.530, p = 0.001, for biceps femoris contraction time). Furthermore, both bilateral CMJ and SJ negatively correlated with TMG-derived variables, ranging from weak (r = −0.350, p = 0.039, for vastus lateralis contraction time) to moderate (r = −0.537, p = 0.003, for rectus femoris contraction time).

Conclusion

The overall significant, albeit inconsistent, correlations between the diverse performance scores obtained highlight the necessity for a multifaceted and thorough diagnostic strategy in female soccer players.
Mutual learning with memory for semi-supervised pest detection
Authors: Zhou Jiale , Huang He , Sun Youqiang , Chu Jiqing , Zhang Wei , Qu Fang , Yang Huamin
Published: June 2024

Effectively monitoring pest-infested areas by computer vision is essential in precision agriculture in order to minimize yield losses and create early scientific preventative solutions. However, the scale variation, complex background, and dense distribution of pests bring challenges to accurate detection when utilizing vision technology. Simultaneously, supervised learning-based object detection heavily depends on abundant labeled data, which poses practical difficulties. To overcome these obstacles, in this paper, we put forward innovative semi-supervised pest detection, PestTeacher. The framework effectively mitigates the issues of confirmation bias and instability among detection results across different iterations. To address the issue of leakage caused by the weak features of pests, we propose the Spatial-aware Multi-Resolution Feature Extraction (SMFE) module. Furthermore, we introduce a Region Proposal Network (RPN) module with a cascading architecture. This module is specifically designed to generate higher-quality anchors, which are crucial for accurate object detection. We evaluated the performance of our method on two datasets: the corn borer dataset and the Pest24 dataset. The corn borer dataset encompasses data from various corn growth cycles, while the Pest24 dataset is a large-scale, multi-pest image dataset consisting of 24 classes and 25k images. Experimental results demonstrate that the enhanced model achieves approximately 80% effectiveness with only 20% of the training set supervised in both the corn borer dataset and Pest24 dataset. Compared to the baseline model SoftTeacher, our model improves mAP@0.5 (mean Average Precision) at 7.3 compared to that of SoftTeacher at 4.6. This method offers theoretical research and technical references for automated pest identification and management.
Narrative identity in addictive disorders: a conceptual review
Authors: Deriu Valentina , Altavilla Daniela , Adornetti Ines , Chiera Alessandra , Ferretti Francesco
Published: June 2024

Narrative identity allows individuals to integrate their personal experiences into a coherent and meaningful life story. Addictive disorders appear to be associated with a disturbed sense of self, reflected in problematic and disorganized self-narratives. In recent literature, a growing body of research has highlighted how narrative approaches can make a dual contribution to the understanding of addiction: on the one hand, by revealing crucial aspects of self structure, and, on the other, by supporting the idea that addiction is a disorder related to unintegrated self-states in which dissociative phenomena and the resulting sense of ‘loss of self’ are maladaptive strategies for coping with distress. This conceptual review identified the main measures of narrative identity, i.e., narrative coherence and complexity, agency, and emotions, and critically examines 9 quantitative and qualitative studies (out of 18 identified in literature), that have investigated the narrative dimension in people with an addictive disorder in order to provide a synthesis of the relationship between self, narrative and addiction. These studies revealed a difficulty in the organization of narrative identity of people with an addictive disorder, which is reflected in less coherent and less complex autobiographical narratives, in a prevalence of passivity and negative emotions, and in a widespread presence of themes related to a lack of self-efficacy. This review points out important conceptual, methodological and clinical implications encouraging further investigation of narrative dimension in addiction.
Testing an online screening for autism in the COVID-19 pandemic: a psychometric study of the Q-CHAT-24 in Chilean toddlers
Authors: Gatica-Bahamonde Gabriel , Mendez-Fadol Alejandra , Sánchez-Sepúlveda Francisca , Peñailillo-Diaz Constanza , van Kessel Robin , Czabanowska Katarzyna , Roman-Urrestarazu Andres
Published: June 2024

Background

The aim of this study was to examine some psychometric characteristics of the Chilean-adapted version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT-24) (24) in a group of unselected children (community sample). This version was administered remotely through an online version during the pandemic period to caregivers of children, aged 18–24 months, registered in four primary care polyclinics of the Health Service Araucanía Sur, Chile.

Methods

An intentional non-probabilistic sampling was used. Three hundred and thirteen toddlers were examined. Participants completed an online version of the Q-CHAT-24 which was disseminated through the REDCap platform. Evidence of reliability through internal consistency and evidence of predictive validity through ROC curve analysis were realized.

Results

The mean age of the children evaluated was 21.16 months. The Shapiro-Wilk test revealed that Q-CHAT-24 scores was normally distributed. 71 cases (23.12%) scored 38 points or more on the Q-CHAT-24, qualifying as Autistic Risk. 48 cases (15.63%) were confirmed as autistic through the ADOS-2 Module T. All items were positively correlated with Q-CHAT-24 total score. All items were positively correlated with Q-CHAT-24 total score. Internal consistency was acceptable for the Q-CHAT-24 (Cronbach ́s α=0.78). The internal consistencies were analyzed for the Q-CHAT-24 Factors, and they were good for factor 1 “Communication and Social Interaction” (Cronbach ́s α=0.85) and acceptable for factor 2 “Restrictive and Repetitive Patterns” (Cronbach ́s α=0.74). Receiver operating characteristic (ROC) curve analyses were performed. The AUC values were 0.93 with statistical significance (p<0.01). For the cut-off point of 38, the Sensitivity, Specificity and Youden index values were 0.89, 0.8 and 0.7, respectively. The Positive Predictive Value (PPV) was 86% and the Negative Predictive Value (NPV) was 85%.

Conclusions

In accordance with the objectives of this study, evidence of reliability and predictive validity was demonstrated for the Q-CHAT-24 in this Chilean population. More importantly, this study provides Sensitivity and Specificity data for a remote application version of an autism screening tool already validated in Chile. The implications of this have to do with the possibility of establishing a remote assessment system for children at risk of autism on a population scale.
Demographic and clinical profile of adolescents suicide attempters admitted to an emergency department during the COVID-19 pandemic – a retrospective cohort study using hospital information system
Authors: Tomaszek Lucyna , Kurleto Paulina , Turkanik Edyta , Bielec Ewa , Milaniak Irena , Dąbrowska-Mędrzycka Wioletta
Published: June 2024

Background

The prevalence of suicidal attempts among adolescents during COVID-19 significantly increased compared with pre-pandemic estimates. The aim of the study was to explore the demographic and clinical profile of adolescent suicide attempters admitted to the emergency department during the COVID-19 pandemic.

Material and method

The retrospective analysis included, on the basis of electronic medical records in the CliniNet system, sociodemographic and clinical data of patients aged 10–18 years with a diagnosis of suicide attempt. Follow-up period: from March 20, 2020 to May 16, 2023.

Results

During the COVID-19 pandemic, there were 425 emergency department visits among adolescents aged 11–17 due to a suicide attempt, with the largest number in the 15–17 (69%) age range. The percentage of emergency department visits was higher among females (80%) and urban residents (75.3%). Self-poisoning was the most common cause of suicide attempts (52.4%), followed by self-harm (41.4%), hanging (3.2%) and jumping from a height (2.1%). The most common toxic substances in self-poisonings were antidepressants and antipsychotics, followed by paracetamol. About 70% of visits were associated with adolescent mental disorders, of which depressive disorder was the most common. One death per 425 visits was recorded (0.2%).

Conclusions

Adolescents attempting suicide during COVID-19 were most likely female, aged 15–17, city dwellers, undergoing psychiatric treatment mainly for depressive disorders. The mental health consequences of the pandemic may be more long term, and further monitoring will be needed in the years to come.
Validating self-reported Toxic Release Inventory data using Benford's Law: investigating toxic chemical release hazards in floodplains
Authors: Osiecki Kristin , Hussaini Syed , Sambanis Apostolis , Quinsey Logan , Liew Chloe
Published: June 2024

Introduction

Acute and long-term health impacts from flooding related toxic chemical releases are a significant local health concern and can disproportionately impact communities with vulnerable populations; reliable release data are needed to quantify this hazard.

Methods

In this paper, we analyze US Federal Emergency Management Agency designated floodplain data and US Environmental Protection Agency Toxic Release Inventory (TRI) data to determine if geographically manipulated databases adhere to Benford's Law.

Results

We investigated multiple variants and discovered pollution releases adhere to Benford's Law and tests which thereby validates the self-reported toxic release dataset.

Discussion

We find that Benford's Law applies to self-reported toxic chemical release and disposal data, indicating a lack of widespread data errors or manipulation.
The urgent need to extend the appropriate use of ultrasound in Africa and worldwide. Overview, experiences and perspectives
Authors: Abbattista Teresa , Meloni Maria Franca , Ferraioli Giovanna , Pirri Clara
Published: June 2024

It is known that in African countries the health condition is problematic, both from a diagnostic and therapeutic point of view. Patients have to travel long distances to access medical care. Many cannot afford the cost of transportation to a medical facility. Ultrasound its into the scenario of healthcare imaging with limited resources, as an effective, economical, repeatable diagnostic tool, requiring low maintenance. Ultrasound tools in fact are relatively cheap and machines are easy to move, making them adapt to be taken to a rural setting where they are most needed. However ultrasound exams are not easy to perform and they need an adequate training. The spread of POCUS (point-of-care “focused” ultrasound) worldwide could be useful in Africa to identify high-risk patients. These cases selected in rural setting by POCUS can be referred to hospitals for further treatment. To deal with these situations it is necessary to form doctors and/or paramedical staff capable of guaranteeing a qualitatively adequate service. Therefore the need for basic training is greater in developing countries. Sharing successful educational strategies should advance the integration of ultrasound into the university medical school curricula. This will ensure that recently qualified doctors can practice their basic skills accurately and independently.
Benchmarking medical laboratory performance on a global scale
Authors: Huf Wolfgang , Mohns Mike , Almeta Eni , Lister Rebecca , Buchta Christoph , Demyanets Svitlana , Buchberger Wolfgang , Ettl Brigitte
Published: June 2024

Background and aims

Laboratory performance as a relative concept needs repetitive benchmarking for continuous improvement of laboratory procedures and medical processes. Benchmarking as such establishes reference levels as a basis for improvements efforts for healthcare institutions along the diagnosis cycle, with the patient at its center. But while this concept seems to be generally acknowledged in laboratory medicine, a lack of practical implementation hinders progress at a global level. The aim of this study was to examine the utility of a specific combination of indicators and survey-based data collection approach, and to establish a global benchmarking dataset of laboratory performance for decision makers in healthcare institutions.

Methods

The survey consisted of 44 items relating to laboratory operations in general and three subscales identified in previous studies. A global sample of laboratories was approached by trained professionals. Results were analyzed with standard descriptive statistics and exploratory factor analysis. Dimensional reduction of specific items was performed using confirmatory factor analysis, resulting in individual laboratory scores for the three subscales of “Operational performance,” “Integrated clinical care performance,” and “Financial sustainability” for the high-level concept of laboratory performance.

Results and conclusions

In total, 920 laboratories from 55 countries across the globe participated in the survey, of which 401 were government hospital laboratories, 296 private hospital laboratories, and 223 commercial laboratories. Relevant results include the need for digitalization and automation along the diagnosis cycle. Formal quality management systems (ISO 9001, ISO 15189 etc.) need to be adapted more broadly to increase patient safety. Monitoring of key performance indicators (KPIs) relating to healthcare performance was generally low (in the range of 10–30% of laboratories overall), and as a particularly salient result, only 19% of laboratories monitored KPIs relating to speeding up diagnosis and treatment. Altogether, this benchmark elucidates current practice and has the potential to guide improvement efforts and standardization in quality & safety for patients and employees alike as well as sustainability of healthcare systems around the globe.
Systematic review and meta-analysis on prevalence, pattern, and factors associated with ocular protection practices among welders in sub-Saharan Africa
Authors: Atalay Yibeltal Assefa , Gebeyehu Natnael Atnafu , Gelaw Kelemu Abebe
Published: June 2024

Background

Due to hazardous working conditions, welders are more likely to be exposed to mild to severe eye issues during the welding process. Globally, this issue is a major contributor to vision loss and blindness. One of the most frequent causes of unilateral blindness in the globe is ocular injury.

Objective

This review aimed to assess the pooled prevalence of ocular protection practice and associated factors among welders in sub-Saharan Africa.

Methods

Databases including PubMed, Scopus, web of Science, Google Scholar, and the African Journals Online were systematically searched for relevant literature. The statistical analysis was performed using STATA data analysis software version 14, while Microsoft Excel was used for data abstraction. We checked publication bias using a funnel plot and Egger and Begg regression tests. A p-value < 0.05 was considered significant, suggesting the presence of presence publication bias. The I2 statistics were used to assess heterogeneity between studies. The study's overall effect was evaluated using the random effects model.

Results

From retrieved 2,326 original studies, 17 studies were included in the final pooled prevalence analysis. The overall prevalence of ocular protection practice among small-scale welders in sub-Saharan Africa was 53.71% (95% CI: 42.54, 64.88). Having pre and in-service training [AOR: 4.97, 95% CI: (2.64, 9.36)], having work experience as a welder [AOR: 4.94, 95% CI: (3.24, 7.54)], and having a history of ocular injury [AOR: 2.99, 95% CI: (1.58, 5.66)] were significantly associated with the ocular protection practices.

Conclusions

In sub-Saharan African countries, the ocular protection practices among small-scale welders were low. Furthermore, the current meta-analysis found ocular protection practice to be significantly associated with on-the-job training, work experience of welders, and a history of ocular injury in the past year of small-scale welders in sub-Saharan Africa. This review will serve as baseline data for further studies to generate inputs for eye care providers and policymakers to improve good practice levels about ocular protection. Policies should be put in place to ensure all welders use proper personal–protective equipment, and receive regular health training.
Automatic cybersickness detection by deep learning of augmented physiological data from off-the-shelf consumer-grade sensors
Authors: Yalcin Murat , Halbig Andreas , Fischbach Martin , Latoschik Marc Erich
Published: June 2024

Cybersickness is still a prominent risk factor potentially affecting the usability of virtual reality applications. Automated real-time detection of cybersickness promises to support a better general understanding of the phenomena and to avoid and counteract its occurrence. It could be used to facilitate application optimization, that is, to systematically link potential causes (technical development and conceptual design decisions) to cybersickness in closed-loop user-centered development cycles. In addition, it could be used to monitor, warn, and hence safeguard users against any onset of cybersickness during a virtual reality exposure, especially in healthcare applications. This article presents a novel real-time-capable cybersickness detection method by deep learning of augmented physiological data. In contrast to related preliminary work, we are exploring a unique combination of mid-immersion ground truth elicitation, an unobtrusive wireless setup, and moderate training performance requirements. We developed a proof-of-concept prototype to compare (combinations of) convolutional neural networks, long short-term memory, and support vector machines with respect to detection performance. We demonstrate that the use of a conditional generative adversarial network-based data augmentation technique increases detection performance significantly and showcase the feasibility of real-time cybersickness detection in a genuine application example. Finally, a comprehensive performance analysis demonstrates that a four-layered bidirectional long short-term memory network with the developed data augmentation delivers superior performance (91.1% F1-score) for real-time cybersickness detection. To encourage replicability and reuse in future cybersickness studies, we released the code and the dataset as publicly available.
The Fantastic Story of How Cacti Thrive in the Brazilian Caatinga
Authors: Amaral Danilo T. , Telhe Milena Cardoso , Romeiro-Brito Monique , Bonatelli Isabel A. S.
Published: June 2024

In the sunny and dry land of Brazil’s Caatinga, a group of plants called cacti lives and thrives even though it does not rain much. But how do they do it? This article will take you on an adventure, in which you will learn how cacti survive in such a tough place. The Cereus cacti are like water-saving wizards, storing water in their bodies. Their spikes, which look and act like armor, also help them catch raindrops. Cacti have a cool way of making food. They do it at night when it is not too hot, to prevent themselves from losing water in the heat of the day. Cacti also have friends, like bats and hummingbirds, that bring pollen from one plant to another, helping the cacti to reproduce. The Caatinga can be a tricky place, with hot days and not much rain, but the story of Brazilian cacti reminds us of nature’s fascinating diversity and how life can be strong and beautiful, even in a very dry place.
Electron acceleration and transport in the 2023-03-06 solar flare
Authors: Kuznetsov Alexey , Wu Zhao , Anfinogentov Sergey , Su Yang , Chen Yao
Published: June 2024

We investigated in detail the M5.8 class solar flare that occurred on 2023-03-06. This flare was one of the first strong flares observed by the Siberian Radioheliograph in the microwave range and the Advanced Space-based Solar Observatory in the X-ray range. The flare consisted of two separate flaring events (a “thermal” and a “cooler” ones), and was associated with (and probably triggered by) a filament eruption. During the first part of the flare, the microwave emission was produced in an arcade of relatively short and low flaring loops. During the second part of the flare, the microwave emission was produced by energetic electrons trapped near the top of a large-scale flaring loop; the evolution of the trapped electrons was mostly affected by the Coulomb collisions. Using the available observations and the GX Simulator tool, we created a 3D model of the flare, and estimated the parameters of the energetic electrons in it.
Laboratorios sociales de la UIDE, un compromiso con el desarrollo de las comunidades locales
Authors:   Universidad Internacional del Ecuador, Llerena Mena Alex Fernando , Jordán Correa Dennys Patricia , Izaguirre Olmedo Jorge Andrés , Jaramillo Luzuriaga Silvia Alexandra , Tacuri Peña Lorena del Cisne , Hurtado Cuenca Celso Darío , Namicela Toledo Mercy Yolanda , Ruiz Salazar Soraya Nathalie , Guanuche Larco Denny Javier , López Vásquez Sandra Elizabeth , CHASI GALARRAGA SANDRA ISABEL , Jácome Galarza Luis Roberto , Conde Zhingre Lorena Elizabeth
Published: June 2024

La Universidad Internacional del Ecuador (UIDE) ha implementado proyectos de prácticas comunitarias en los laboratorios sociales de Llano Chico, Chongón y Loja, con el propósito de abordar las necesidades sociales de los sectores más vulnerables. Estos proyectos involucran a estudiantes en la resolución de problemas reales en colaboración con las comunidades locales y sus docentes. Se destacan acciones en áreas como el cuidado del medio ambiente, la educación financiera para emprendedores, la prevención de enfermedades crónicas no transmisibles, el fortalecimiento empresarial y la seguridad vial. Estas intervenciones han generado un impacto significativo en la calidad de vida de las comunidades, al tiempo que proporcionan a los estudiantes una valiosa experiencia práctica para su desarrollo profesional.
The Structure-Dependent Dynamic Performance of a Twin-Ball-Screw Drive Mechanism via a Receptance Coupling Approach
Authors: Chantal Uwayezu Marie , Lu Hong , Liu Qi , Jiang Tao , He Jiji , Gu Shuaiwei , Gaspard Gashema
Published: June 2024

The drive at the center of gravity (DCG) concept-based twin-ball-screw drive mechanism (TBSDM) is vital in automated factories for its robustness and reliability. However, changes in the worktable mass or position result in changes in the center of gravity (CG), significantly affecting the system’s dynamic properties. In this regard, this paper introduces a novel analytical model using improved receptance coupling to analyze vibrations in four modes. A mathematical framework for the twin TBSDM is generated, and the effect of changing the worktable position–mass on each mode is examined. The applicability of the proposed method is verified based on dynamic experiments that were carried out on a TBSDM of a CNC grinding wheel machine tool. After thoroughly analyzing the experimental and theoretical results, it is revealed that changing the worktable position primarily influences the rotational and axial vibrations of the twin ball screw (TBS). Furthermore, changes in the worktable mass significantly affect the coupling vibration among the TBSs and rotors or bearings. Moreover, in terms of performance, the variances between the theoretical and experimental natural frequencies are consistently below 5%. Thus, the proposed method is promising for the improvement of the modeling and analysis of the TBSDM.