bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
Authors: Chen Yi , Xia Xiaotong , Zhang Yiwen , Gao Li , He Chenyiyi , Cao Jianguo 
Published: May 2024

BackgroundCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features. Herein, we describe a novel de novo missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome.Case descriptionThis study describes a patient with varus deformities in both feet, deviation of the ulnar side of the fingers, and severe hypotonia. This patient was subsequently confirmed to have CLIFAHDD syndrome through genetic testing, which also revealed a novel missense de novo genetic variant in the NALCN gene (c.3553G &gt; A, p.Ala1185Thr).ConclusionsOur findings further enrich the known variant spectrum of the NALCN gene and may expand the range of clinical options for treating NALCN-related disorders.
Edaravone dexborneol attenuates oxidative stress in experimental subarachnoid hemorrhage via Keap1/Nrf2 signaling pathway
Authors: Zhu Kunyuan , Bi Shijun , Zhu Zechao , Zhang Wenxu , Yang Xinyu , Li Jiashuo , Liang Guobiao , Yu Chunyong , Pan Pengyu 
Published: May 2024

BackgroundSubarachnoid hemorrhage (SAH) serves as a disease characterized by high incidence rate, which is exceedingly prevalent and severe. Presently, there is no unambiguous or efficacious intervention for the neurological impairment following SAH. Administering multi-targeted neuroprotective agents to reduce oxidative stress (OS) and neuroinflammation caused by early brain injury (EBI) has been demonstrated to improve neurological function and prognosis following SAH. Edaravone dexborneol (EDB), a novel multi targeted neuroprotective medication, combines four parts edaravone (EDA) with 1 part (+)-borneol in proportion. Clinical trials conducted in China have revealed during 2 days of acute ischemic stroke (AIS), early administration of EDB leads to improved therapeutic outcomes compared to treatment in EDA monotherapy. Currently, there is no clear evidence that EDB can effectively treat SAH, therefore, our study aims to investigate its potential therapeutic effects and mechanisms on EBI after SAH.MethodWe used the intravascular threading method to establish a mouse model of SAH to explore whether EDA and EDB could produce anti-OS and anti-apoptosis effects. Behavioral assessment of mice was conducted using the balance beam experiment and the modified Garcia scoring system. Neuronal damage due to OS and Keap1/Nrf2 signaling pathway were detected through techniques of immunofluorescence, Western blotting, spectrophotometry. The group of EDA and EDB were injected intraperitoneally for 72 h after SAH.ResultsThe experiment results indicated that EDB lead to remarkably positive results by significantly enhancing neurological function, reducing blood-brain barrier (BBB) injury, and effectively inhibiting neuronal apoptosis after SAH. Further examination indicated EDB significantly reduced the expression of Keap1 and increased the expression of Nrf2, and it inhibited MDA, and enhanced SOD activity after SAH. These outcomes surpassed the effectiveness observed in EDA monotherapy. However, the application of ML385 reversed the anti-OS effects of EDB and EDA.ConclusionOur experimental findings indicated that EDB could activate Keap1/Nrf2 signaling pathway to reduce OS damage, thereby protecting neurological function and enhancing behavioral abilities after SAH. These outcomes could facilitate the creation of new approaches for the clinical management of SAH.
Pooled-analysis of tadalafil and tamsulosin for ureteral calculi
Authors: Sun Fengze , Liu Hongquan , Wu Gang , Liu Ming , Liu Shangjing , Wang Lin , Zou Qingsong , Cui Yuanshan , Wu Jitao 
Published: May 2024

ObjectiveUrolithiasis is a common urological diseases and affects the daily life of patients. Medical expulsive therapy has become acceptable for many parents. We conducted a meta-analysis to determine the efficacy and safety of tadalafil compared with tamsulosin for treating distal ureteral stones less than 10 mm in length.MethodsRelated studies were identified via searches of the PubMed, Embase, and Cochrane Library databases. All the articles that described the use of tadalafil and tamsulosin for treating distal ureteral stones were collected.ResultsA total of 14 studies were included in our meta-analysis. Our results revealed that tadalafil enhanced expulsion rate [odds ratio (OR) = 0.68, 95% confidence interval (CI): 0.47 to 0.98, p = 0.04]; reduced expulsion time [mean difference (MD) = 1.22, 95% CI (0.13, 2.30), p = 0.03]; lowered analgesia use [MD = 38.66, 95% CI (7.56, 69.77), p = 0.01] and hospital visits [MD = 0.14, 95% CI (0.06, 0.22), p = 0.0006]. According to our subgroup analysis, either tadalafil 5 mg or 10 mg did not promote expulsion rate and accelerate expulsion time compared with tamsulosin. But patients receiving 5 mg tadalafil decreased analgesia usage [MD = 101.04, 95% CI (67.56, 134.01), p &lt; 0.00001].ConclusionCompared with tamsulosin, tadalafil demonstrates a higher expulsion rate and less expulsion time for patients with distal ureteral stones less than 10 mm with a favorable safety profile.
Effects of Dl-3-n-butylphthalide on neurological function, hemodynamics and Hcy concentration in cerebral hemorrhage: a systematic review and meta-analysis
Authors: Ma Yingqi , Guo Chenchen , Wang Yiguo , Liu Xinxin 
Published: May 2024

BackgroundDl-3-n-Butylphthalide (NBP) has emerged as a potential therapeutic agent for cerebral hemorrhage, despite not being included in current guideline recommendations. Investigating the underlying physiological and pathological mechanisms of Dl-3-n-Butylphthalide in cerebral hemorrhage treatment remains a critical area of research.ObjectiveThis review aims to evaluate the efficacy of Dl-3-n-Butylphthalide in cerebral hemorrhage treatment and elucidate its potential biological mechanisms, thereby providing evidence to support treatment optimization.MethodsA comprehensive search of seven electronic databases (PubMed, Web of Science, Embase, Cochrane Library, China National Knowledge Infrastructure, VIP, and Wanfang Database) was conducted for studies published up to September 2023. Screening and data extraction were performed by a team of researchers. The Cochrane collaboration tool was utilized for risk bias assessment, and Revman 5.3 along with Stata 17.0 were employed for statistical analysis.OutcomesWe searched 254 literature, and 19 were included in this meta-analysis. The results showed that Dl-3-n-Butylphthalide improved the clinical efficacy rate (RR = 1.25, 95% CI 1.19–1.31; p = 0.00), quality of life (MD = 13.93, 95% CI: 11.88–15.98; p = 0.000), increased cerebral blood flow and velocity, reduced cerebral edema volume, Hcy concentration, and did not have obvious adverse reactions (RR = 0.68, 95% CI: 0.39–1.18; p = 0.10).ConclusionThis meta-analysis is the first to demonstrate the potential of Dl-3-n-Butylphthalide in treating cerebral hemorrhage. It suggests that Dl-3-n-Butylphthalide may alleviate clinical symptoms by modulating neurological function and improving hemodynamics. Our findings provide robust evidence for incorporating Dl-3-n-Butylphthalide into cerebral hemorrhage treatment strategies, potentially guiding future clinical practice and research.Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/ display_record.php?RecordID=355114, Identifier CRD42022355114.
Growth hormone releasing peptide-6 (GHRP-6) prevents doxorubicin-induced myocardial and extra-myocardial damages by activating prosurvival mechanisms
Authors: Berlanga-Acosta Jorge , Cibrian Danay , Valiente-Mustelier Juan , Suárez-Alba José , García-Ojalvo Ariana , Falcón-Cama Viviana , Jiang Baohong , Wang Linlin , Guillén-Nieto Gerardo 
Published: May 2024

Introduction: Dilated cardiomyopathy (DCM) is a fatal myocardial condition with ventricular structural changes and functional deficits, leading to systolic dysfunction and heart failure (HF). DCM is a frequent complication in oncologic patients receiving Doxorubicin (Dox). Dox is a highly cardiotoxic drug, whereas its damaging spectrum affects most of the organs by multiple pathogenic cascades. Experimentally reproduced DCM/HF through Dox administrations has shed light on the pathogenic drivers of cardiotoxicity. Growth hormone (GH) releasing peptide 6 (GHRP-6) is a GH secretagogue with expanding and promising cardioprotective pharmacological properties. Here we examined whether GHRP-6 administration concomitant to Dox prevented the onset of DCM/HF and multiple organs damages in otherwise healthy rats.Methods: Myocardial changes were sequentially evaluated by transthoracic echocardiography. Autopsy was conducted at the end of the administration period when ventricular dilation was established. Semiquantitative histopathologic study included heart and other internal organs samples. Myocardial tissue fragments were also addressed for electron microscopy study, and characterization of the transcriptional expression ratio between Bcl-2 and Bax. Serum samples were destined for REDOX system balance assessment.Results and discussion: GHRP-6 administration in parallel to Dox prevented myocardial fibers consumption and ventricular dilation, accounting for an effective preservation of the LV systolic function. GHRP-6 also attenuated extracardiac toxicity preserving epithelial organs integrity, inhibiting interstitial fibrosis, and ultimately reducing morbidity and mortality. Mechanistically, GHRP-6 proved to sustain cellular antioxidant defense, upregulate prosurvival gene Bcl-2, and preserve cardiomyocyte mitochondrial integrity. These evidences contribute to pave potential avenues for the clinical use of GHRP-6 in Dox-treated subjects.
Complex training with blood flow restriction increases power output and bar velocity during half-squat jump: a pilot randomized controlled study
Authors: Zhou Limingfei , Tan Yineng , Gan Jianyu , Li Chunlei , Bao Dapeng , Zhou Junhong 
Published: May 2024

PurposeThis study examined the effects of 8-week complex training (CT) with blood flow restriction (BFR) on power output and bar velocity.MethodsTwenty-six healthy male university athletes (age: 19.40 ± 0.88 years) completed three sessions of CT with BFR (CT_BFRT, n = 13) or CT-only (i.e., control) (n = 13) per week (i.e., 24 sessions in total). Before and immediately after intervention, participants completed power measurement as assessed by one-repetition maximum (1RM) squat, squat jump (SJ), countermovement jump (CMJ), and mean power (MP), peak power (PP), mean bar velocity (Bar-MV), and peak bar velocity (Bar-PV) during the half-squat jump.ResultsTwo-way ANOVA models showed significant main effect of time (p &lt; 0.001) but not group (p &gt; 0.89) or interaction (p &gt; 0.37) between group and time on 1RM of the squat, SJ, or CMJ; however, significant interactions were observed in MP (p = 0.03, Cohen’s d = 1.39), PP (p = 0.03, Cohen’s d = 1.14), Bar-MV (p = 0.049, Cohen’s d = 1.26), and Bar-PV (p = 0.01, Cohen’s d = 1.56). The post hoc analyses revealed that MP, PP, Bar-MV, and Bar-PV after CT with BFRT were significantly greater compared to all the other three conditions (i.e., pre-CT_BFRT, pre- and post-CT-only).ConclusionCT with BFR may induce significantly greater improvements in power output and bar velocity during half-squat jump and induce comparable improvements in 1RM of the squat, SJ, and CMJ of males as compared to CT only, suggesting this novel CT with BFR would be a promising strategy to enhance power performance in healthy male university athletes.
Seizure prediction in stroke survivors who experienced an infection at skilled nursing facilities—a machine learning approach
Authors: Stanik Madeleine , Hass Zachary , Kong Nan 
Published: May 2024

BackgroundInfections and seizures are some of the most common complications in stroke survivors. Infections are the most common risk factor for seizures and stroke survivors that experience an infection are at greater risk of experiencing seizures. A predictive model to determine which stroke survivors are at the greatest risk for a seizure after an infection can be used to help providers focus on prevention of seizures in higher risk residents that experience an infection.MethodsA predictive model was generated from a retrospective study of the Long-Term Care Minimum Data Set (MDS) 3.0 (2014–2018, n = 262,301). Techniques included three data balancing methods (SMOTE for up sampling, ENN for down sampling, and SMOTEENN for up and down sampling) and three feature selection methods (LASSO, Recursive Feature Elimination, and Principal Component Analysis). One balancing and one feature selection technique was applied, and the resulting dataset was then trained on four machine learning models (Logistic Regression, Random Forest, XGBoost, and Neural Network). Model performance was evaluated with AUC and accuracy, and interpretation used SHapley Additive exPlanations.ResultsUsing data balancing methods improved the prediction performances of the machine learning models, but feature selection did not remove any features and did not affect performance. With all models having a high accuracy (76.5%–99.9%), interpretation on all four models yielded the most holistic view. SHAP values indicated that therapy (speech, physical, occupational, and respiratory), independence (activities of daily living for walking, mobility, eating, dressing, and toilet use), and mood (severity score, anti-anxiety medications, antidepressants, and antipsychotics) features contributed the most. Meaning, stroke survivors who received fewer therapy hours, were less independent, had a worse overall mood were at a greater risk of having a seizure after an infection.ConclusionThe development of a tool to predict seizure following an infection in stroke survivors can be interpreted by providers to guide treatment and prevent complications long term. This promotes individualized treatment plans that can increase the quality of resident care.
Morning–evening differences of short-term maximal performance and psychological variables in female athletes
Authors: Jribi Wafa , Bougrine Houda , Aloui Ali , Khalfoun Jihen , Souissi Nafaa , Mkacher Wajdi , El Abed Kais , Ben Abderrahman Abderraouf 
Published: May 2024

The aim of this study was to examine the effect of time of day on short-term maximal performance and psychological variables in young females. Fifteen active women participated in the study (age: 22 ± 3 years) and completed Hooper and the POMS-F questionnaires subsequently. In a randomized order, they performed a maximum of 30 s cycling exercise at two different times of day: in the morning at 07:00 h and in the afternoon at 16:00 h with a recovery period of 48 h. The digit cancellation test, countermovement jump (CMJ), squat jump (SJ) test, and the lower quarter Y balance test were performed at the beginning and at the end of each session. Our results showed that only peak power and mean power (p &lt; 0.01) during the maximum 30 s cycling, reaching distances during the Y-balance (p &lt; 0.05), Jump height in CMJ and SJ (p &lt; 0.01) as well as attention, vigor, and stress scores (all p &lt; 0.01) were higher in the afternoon than in the morning. Our results indicated a daily diurnal variation in short-term maximal performance and mood states in young athletic women with better performance observed during the afternoon.
Psychometric properties of the Portuguese version of the Personality Assessment Inventory: normative data and reliability
Authors: Paulino Mauro , Moniz Mariana , Moura Octávio , Rijo Daniel , Morey Leslie , Simões Mário R. 
Published: May 2024

IntroductionOriginally published in the United States of America in 1991, the Personality Assessment Inventory (PAI) has been translated and adapted to a growing number of countries, but Portugal had yet to study its adequacy to the Portuguese population.MethodsThe current study aimed to investigate the Portuguese normative data, the predictive effect of sociodemographic variables on the PAI scores, and the reliability of the Portuguese version of the PAI. Additionally, results were compared with other international versions of the PAI. The sample was comprised of 900 participants (age: M = 43.13, SD = 14.28, range = 18–75), recruited from various regions of Portugal.ResultsFindings showed that the Portuguese sample scored higher than the U.S. and other international versions of the PAI in most scales. Sociodemographic variables (e.g., gender, age, and educational level) were significant predictors on PAI scores. The internal consistency of the Portuguese sample revealed lower values on the validity scales, but adequate on the clinical, treatment, and interpersonal scales. Overall, the Portuguese PAI revealed adequate psychometric properties, with normative results often superior to other international versions of the inventory.DiscussionIt is a crucial step into the Portuguese adaptation and validation of this instrument, a measure with considerable potential in clinical, forensic, and research contexts. This adaptation may lead to the growth and development of the psychological assessment field in Portugal, and the opportunity to develop future cross-cultural studies with other international versions of the PAI.
Cognitive, behavioral and socio-communication skills as predictors of response to Early Start Denver Model: a prospective study in 32 young children with Autism Spectrum Disorder
Authors: Asta Lisa , Di Bella Tiziana , La Fauci Belponer Francesca , Bruschetta Marianna , Martines Silvia , Basile Enrica , Boncoddo Maria , Bellomo Fabiana , Cucinotta Francesca , Ricciardello Arianna , Turriziani Laura , Colombi Costanza , Banchelli Federico , Cuoghi Costantini Riccardo , D’Amico Roberto , Persico Antonio M. 
Published: May 2024

IntroductionThe effectiveness of early interventions in young autistic children is well established, but there is great interindividual variability in treatment response. Predictors of response to naturalistic developmental behavioral interventions (NDBI), like the Early Start Denver Model (ESDM), are needed.MethodsWe conducted an exploratory study to prospectively seek predictors of response in 32 young children treated with ESDM after receiving an ASD diagnosis. All children were less than 39 months old (mean age: 29.7 mo), and received individualized ESDM for nine months. Tests were administered at the beginning, after 4 months, and at the end of treatment.ResultsFour children (12.5%) were “strong responders”, 8 children (25.0%) were “moderate responders”, and 20 children (62.5%) were “poor responders”. A more favorable response to ESDM was significantly predicted by higher PEP-3 Expressive Language, Receptive Language, Cognitive Verbal/Preverbal, Visuo-Motor Imitation scores, higher GMDS-ER Personal/Social, and VABS-II Communication scores, by lower ADI-R C restricted/stereotypic behaviors, and by joint attention level.DiscussionMost predictors showed a linear association with increasing response to ESDM, but GMDS-ER Personal-Social and joint attention level predicted strong response, while PEP-3 receptive language equally predicted moderate or strong response. Although larger samples will be necessary to reach definitive conclusions, in conjunction with prior reports our findings begin providing information able to assist clinicians in choosing the most appropriate treatment program for young autistic children.
Sleep quality among patients with chronic illness in Ethiopia: systematic review and meta-analysis
Authors: Edmealem Afework , Tegegne Belachew , Alem Girma , Zeleke Haymanot , Ayenew Temesgen , Ayenew Setarg , Sisay Gebeyew Ayenew , Tomiso Bereket , Getahun Abuneh , Wondie Tirusew , Liknaw Tiliksew 
Published: May 2024

BackgroundPoor sleep quality impedes the progression of chronic illnesses, while chronic illnesses themselves are caused by poor sleep quality. Despite this fact, there is no research that has been conducted in Ethiopia that provides a thorough estimate of the self-reported sleep quality among patients with chronic illnesses. In order to present a complete picture of poor sleep quality among diabetes, hypertension, heart failure, cancer, HIV/AIDS and epilepsy patients, this systematic review and meta-analysis was carried out.MethodsSystematic review and meta-analysis was conducted to estimate the quality of sleep among patients with chronic illness in Ethiopia. The Preferred Reporting Items for Systematic Review and Meta Analysis standard was followed in the reporting of this systematic review and meta-analysis. An extensive exploration of digital repositories, including PubMed, EMBASE, Cochrane, Africa Journal of Online, Google Scholar, and an advanced Google search, was conducted to obtain published studies until December 1st, 2023 detailing poor sleep quality of patients with chronic illness. STATA version 17 commands were used to create the pooled estimate. The I2 test and Egger’s test, respectively, were used to identify the presence of heterogeneity and publication bias. To manage heterogeneity, a subgroup analysis and random effect model were used.ResultsA total 21 articles with a total of 7393 participants were included in the final systematic review and meta-analysis. The pooled estimate of poor sleep quality among patients with chronic illness was 52% (95% of CI: 48%, 59%; I2 = 97.26%). In subgroup analysis, the highest pooled estimate of poor sleep quality was observed in cancer patients 63% (95% CI: (95% CI: 45% - 80%). Regarding to data collection period, the highest pooled estimate of poor sleep quality was seen during spring 68% (95% CI: 42% - 94%).ConclusionsPatients with chronic illnesses in Ethiopia had a high pooled estimate of poor sleep quality. Patients with cancer had the highest pooled estimate of poor-quality sleep compared with other patients. Patients with chronic illnesses had trouble sleeping in the spring, according to this systematic review and meta-analysis. Therefore, attention and intervention should be given to enhance the quality of sleep for patients with chronic illnesses.
Sex differences of neural connectivity in internet gaming disorder and its association with sleep quality: an exploratory fMRI study
Authors: Zhou Mingzhe , Gao Guoqing , Rong Bei , Zhao Haomian , Huang Junhua , Tu Ning , Bu Lihong , Xiao Ling , Wang Gaohua 
Published: May 2024

ObjectivesSex-specific differences in internet gaming disorder (IGD) neurophysiology remain underexplored. Here we investigated sex-related variability in regional homogeneity (ReHo) and functional connectivity (FC) in IGD and their correlations with sleep quality.MethodsResting-state functional magnetic resonance imaging (fMRI) scans were performed on 52 subjects with IGD and 50 healthy controls (HCs). Two-way ANOVA was used to examine sex and diagnosis interactions in ReHo and FC, followed by post-hoc analyses to explore FC biomarkers for different sexes.ResultsIn ReHo analysis, the four groups showed significant sex and diagnosis interactions in the right middle frontal gyrus (rMFG). FC analysis with rMFG as the seed region revealed a significant sex and diagnosis interaction effect in FC of the rMFG with the bilateral postcentral gyrus (PoCG). In male IGD group, FC between the rMFG and the bilateral PoCG correlates strongly with daytime dysfunction score and the Pittsburgh sleep quality inventory (PSQI) total score.ConclusionThese findings emphasize the importance of considering sexual dimorphism in the neurobiology of IGD, which might influence subsequent treatment strategies.