bluuebunny/crossref_metadata_2025_split huggingface dataset:
Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study
Authors: Ahmad Azahari Ahmad Hazim Syakir , Hakim Zada Farheen , Ismail Intan Hakimah , Abd Hamid Intan Juliana , Lim Bruce Wee Diong , Ismail Noor Akmal Shareela , Ali Adli 
Published: January 2024

BackgroundPrimary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body’s immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population.MethodThis qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals.ResultThe focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness.ConclusionIn conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals’ understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.
Predictive value of white blood cell to hemoglobin ratio for 30-day mortality in patients with severe intracerebral hemorrhage
Authors: Liu Lei , Dong Xuetao , Liu Yaodong , Wang Shaozhen , Wei Liudong , Duan Lian , Zhang Qingjun , Zhang Kun 
Published: January 2024

AimTo explore the predictive value of white blood cell to hemoglobin ratio (WHR) for 30-day mortality in patients with intracerebral hemorrhage (ICH).MethodsIn this cohort study, 2,848 patients with ICH were identified in the Medical Information Mart for Intensive Care (MIMIC)-III and MIMIC-IV. Least absolute shrinkage and selection operator (LASSO) regression screened covariates of 30-day mortality of ICH patients. COX regression analysis was used to study the association of different levels of WHR, white blood cell (WBC), and hemoglobin (Hb) with 30-day mortality. The median follow-up time was 30 (20.28, 30.00) days.ResultsIn total, 2,068 participants survived at the end of the follow-up. WHR was negatively correlated with the Glasgow Coma Score (GCS) (spearman correlation coefficient = −0.143, p &lt; 0.001), and positively associated with the Sepsis-related Organ Failure Assessment (SOFA) score (spearman correlation coefficient = 0.156, p &lt; 0.001), quick SOFA (qSOFA) score (spearman correlation coefficient = 0.156, p &lt; 0.001), and Simplified Acute Physiology Score II (SAPS-II) (spearman correlation coefficient = 0.213, p &lt; 0.001). After adjusting for confounders, WHR &gt;0.833 (HR = 1.64, 95%CI: 1.39–1.92) and WBC &gt;10.9 K/uL (HR = 1.49, 95%CI: 1.28–1.73) were associated with increased risk of 30-day mortality of patients with ICH. The area under the curve (AUC) value of the prediction model based on WHR and other predictors was 0.78 (95%CI: 0.77–0.79), which was higher than SAPSII (AUC = 0.75, 95%CI: 0.74–0.76), SOFA score (AUC = 0.69, 95%CI: 0.68–0.70) and GCS (AUC = 0.59, 95%CI: 0.57–0.60).ConclusionThe level of WHR was associated with 30-day mortality in patients with severe ICH, and the WHR-based prediction model might provide a tool to quickly predict 30-day mortality in patients with ICH.
Preoperative nomogram predicting ventriculoperitoneal shunt longevity after initial shunt failure
Authors: Liu Dongsheng , He Qiheng , Niu Jianxing , Li Liangliang , Geng Ronghua , Cao Tianqing , Wang Xiaosong , Lv Zeping , He Jianghong , Zhao Jizong , Chen Guoqiang , Yang Yi 
Published: January 2024

Background and objectivesInitial shunt failure following ventriculoperitoneal (VP) shunt surgery has a significant impact on the working time of the shunt. However, there are few studies regarding factors affecting VP shunt longevity. Hence, in this study, we aimed to build a nomogram to predict the longevity of the replacement VP shunt in patients with initial shunt failure.MethodsFrom 2011 to 2021, 142 patients with initial VP failure who underwent VP shunt revision were enrolled and relevant clinical and demographic factors were analyzed. Univariate and multivariate Cox proportional hazard regression models were used to choose predictors, and a nomogram was constructed using nine independent prognostic variables: sex, age, hydrocephalus type, intensive care unit admission, tracheostomy, decompressive craniectomy, craniotomy, lumbar cisterna drainage, and ventricular drainage. The prediction models’ discrimination, accuracy, calibration, and clinical value were evaluated using Harrell’s C-index, a calibration plot, and decision curve analysis.ResultsAt 1 month, 3 months, and 5 years, the nomogram’s C-index was 0.680, 0.708, and 0.694, respectively. The nomogram’s calibration plot provided a good fit for the overall prediction over the course of 1 year. Decision curve analysis predicted that 1–3 months after surgery will yield good net benefits between 30 and 50% probability thresholds.ConclusionA preoperative nomogram may be an effective tool for assessing VP shunt longevity after initial VP shunt placement.
The timeline of non-vocal and vocal communicative skills in infants with hearing loss
Authors: Saksida Amanda , Rebesco Roberta , Colombani Arianna , Pintonello Sara , Tonon Eleonora , Santoro Andrea Martina , Orzan Eva 
Published: January 2024

ObjectiveThe study investigates what is the link between early verbal and non-vocal abilities, when does predominantly verbal communicative style occur after the intervention with cochlear implants (CI) or hearing aids (HA), and how predictive it is of later linguistic development in deaf and hard of hearing (DHH) infants and children.MethodsCohort: children with moderate-to-profound hearing impairment (N = 49, 20 girls, mean age at HA or CI intervention = 15 months, range: 4–35 months).MeasuresReceptive and productive vocabulary at 24 and 36 months and video analysis at 12 months post-intervention. Analysis: Predictive values of total and verbal responses to communicative turns for later vocabulary development were assessed, as well as the relative time course of the development of vocal/verbal communication in DHH children.ResultsVocabulary at 24 months is predicted by auditory responses at 12 months, as well as by overall responsiveness before intervention. Non-vocal responses decline and overall verbal responses increase significantly between 6 and 12 months after intervention. The trend is delayed in children with delayed (&gt;12 months of age) treatment with CI or HA.ConclusionsAge of intervention affects the development of vocal/verbal communicative style. Language development, in particular, vocabulary growth, can be further stimulated by the enhancement of preverbal (both vocal and non-vocal) communicative skills.
Radiographic features of congenital thumb duplication type C2 of Wu et al. classification: new subtypes and surgical strategies
Authors: Wu JianPing , Shi WeiZhe , Zhao Hai , Li JingChun , Li YiQiang , Hong Kai , Yuan Zhe , Zhu MingWei , Liu YuanZhong , Canavese Federico , Xu HongWen 
Published: January 2024

ObjectiveThis study aimed (i) to evaluate the radiographic characteristics of patients with congenital thumb duplication (CTD) type C2 according to the classification of Wu et al., (ii) to describe the various subtypes of type C2 CTD, and (iii) to propose a classification system that allows the identification of different surgical strategies based on the radiographic anatomy of this specific subtype of duplication.MethodsWe retrospectively reviewed 92 patients (92 thumbs) with type C2 CTD according to the Wu et al. classification in our institution between August 2015 and April 2021. All CTDs were classified according to the interphalangeal joint alignment of the main thumb at the posteroanterior radiograph of the thumb before operation: type I (no deviation), type II (ulnar deviation), and type III (radial deviation).ResultsAll CTDs (n = 92) could be classified according to the proposed classification system: 76 (82.6%) were type I, 10 (10.9%) were type II, and six were type III (6.5%). According to the Kim system of subtype classification, there were 55 (59.8%) type 1, 24 (26.1%) type 2, and 13 (14.1%) type 3 cases.ConclusionsThe suggested classification completes the Wu et al. system and has the potential to guide surgical treatment in children with type C2 CTD.Level of evidenceIII.
Hip arthrogram parameters predict radiographic outcomes of patients with developmental dysplasia of the hip treated by closed reduction
Authors: Tan YunFei , Zhao Wei , Wei MinRong , He Yi , Deng HuaJun , Su DaiWei , Zhu WuHui , Wu YuQian , Shen Hao , Li YiQiang 
Published: January 2024

ObjectiveThis study aimed to investigate the relationship between intraoperative hip arthrogram parameters and residual acetabular dysplasia (RAD) and avascular necrosis of the femoral head (AVN) in children with developmental dysplasia of the hip (DDH) treated by closed reduction.MethodsWe retrospectively analyzed the data of 102 patients (110 hips; mean age, 14.6 months ± 4.7 months) with DDH treated by closed reduction. A hip arthrogram was routinely performed during the operation. The femoral head coverage rate (FHC), medial pool distance of the hip (MPD), labral inversion, and reduction quality classification were evaluated under the hip arthrogram. The presence of RAD and AVN was assessed on radiographs at the last follow-up. The relationship between each arthrogram parameter and RAD as well as AVN was investigated using a t-test, chi-square test, and logistic regression.ResultsThe overall FHC and medial pool distance of the hip (MDP) averaged 42.2% ± 12% and 8.1% ± 11.7%, respectively. There were 80 hips (72.7%) with labral inversion and 30 hips (27.2%) without. The reduction quality was type A in 57 hips (51.8%), type B in 28 hips (25.4%), and type C in 25 hips (22.7%). A total of 32 hips (29%) were in the RAD group, and 78 hips (71%) were in the recovered group according to whether pelvic osteotomy was performed or not and according to the last Severin grade. The FHC was significantly higher in the recovered group than that in the RAD group (P = 0.014). No significant difference was observed in sex, age at reduction, side, preoperative acetabular index, International Hip Dysplasia Institute classification, follow-up time, quality of reduction, MDP, and proportion of labral inversion between the recovered and RAD groups. Logistic regression analysis showed that only the FHC was a risk factor for RAD. The incidence of AVN above type II was 11.8% in this group of patients, and the incidence of AVN was significantly higher in patients with labral inversion (23.2%) than that in those without (7.5%; P = 0.041). Logistic regression analysis showed that labral inversion was a risk factor for AVN.ConclusionThe FHC measured under arthrogram can predict the occurrence of RAD after closed reduction of DDH, whereas MDP, reduction quality classification, and labral inversion are of little significance. Labral inversion is a risk factor for AVN.
Deciphering hepatocellular carcinoma pathogenesis and therapeutics: a study on anoikis, ceRNA regulatory network and traditional Chinese medicine
Authors: Guo Sa , Xing Nan , Du Qinyun , Luo Bin , Wang Shaohui 
Published: January 2024

Introduction: Hepatocellular carcinoma (HCC) is responsible for approximately 90% of liver malignancies and is the third most common cause of cancer-related mortality worldwide. However, the role of anoikis, a programmed cell death mechanism crucial for maintaining tissue equilibrium, is not yet fully understood in the context of HCC.Methods: Our study aimed to investigate the expression of 10 anoikis-related genes (ARGs) in HCC, including BIRC5, SFN, UBE2C, SPP1, E2F1, etc., and their significance in the disease.Results: Through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses, we discovered that these ARGs are involved in important processes such as tissue homeostasis, ion transport, cell cycle regulation, and viral infection pathways. Furthermore, we found a significant correlation between the prognostic value of five ARGs and immune cell infiltrates. Analysis of clinical datasets revealed a strong association between BIRC5 expression and HCC pathological progression, including pathological stage, T stage, overall survival (OS), and race. By constructing a competing endogenous RNA (ceRNA) network and using molecular docking, we identified ten bioactive compounds from traditional Chinese medicine (TCM) that could potentially modulate BIRC5. Subsequent in vitro experiments confirmed the influence of platycodin D, one of the identified compounds, on key elements within the ceRNA network.Discussion: In conclusion, our study presents a novel framework for an anoikis-centered prognostic model and an immune-involved ceRNA network in HCC, revealing potential regulatory targets. These insights contribute to our understanding of HCC pathology and may lead to improved therapeutic interventions.
Nitrogen addition regulates the effects of variation in precipitation patterns on plant biomass formation and allocation in a Leymus chinensis grassland of northeast China
Authors: Ren Jianli , Wang Chengliang , Wang Qiaoxin , Song Wenzheng , Sun Wei 
Published: January 2024

Global warming is predicted to change precipitation amount and reduce precipitation frequency, which may alter grassland primary productivity and biomass allocation, especially when interact with other global change factors, such as nitrogen deposition. The interactive effects of changes in precipitation amount and nitrogen addition on productivity and biomass allocation are extensively studied; however, how these effects may be regulated by the predicted reduction in precipitation frequency remain largely unknown. Using a mesocosm experiment, we investigated responses of primary productivity and biomass allocation to the manipulated changes in precipitation amount (PA: 150 mm, 300 mm, 450 mm), precipitation frequency (PF: medium and low), and nitrogen addition (NA: 0 and 10 g N m−2 yr−1) in a Leymus chinensis grassland. We detected significant effects of the PA, PF and NA treatments on both aboveground biomass (AGB) and belowground biomass (BGB); but the interactive effects were only significant between the PA and NA on AGB. Both AGB and BGB increased with an increment in precipitation amount and nitrogen addition; the reduction in PF decreased AGB, but increased BGB. The reduced PF treatment induced an enhancement in the variation of soil moisture, which subsequently affected photosynthesis and biomass formation. Overall, there were mismatches in the above- and belowground biomass responses to changes in precipitation regime. Our results suggest the predicted changes in precipitation regime, including precipitation amount and frequency, is likely to alter primary productivity and biomass allocation, especially when interact with nitrogen deposition. Therefore, predicting the influence of global changes on grassland structure and functions requires the consideration of interactions among multiple global change factors.
Utilization of the Winkler scale of plants using big data temperature presented by the Korea Meteorological Administration
Authors: Park Jae-Ryoung , Kim Eun-Gyeong , Jang Yoon-Hee , Kim Kyung-Min 
Published: January 2024

IntroductionRice is an important food source that can provide a stable supply of calories for most people around the world. However, owing to the recent rapid temperature rise, we are facing social issues related to the increase in the Winkler scale. In this study, a strategy for screening potential candidate genes related to the yield according to the Winkler scale is presented, and the possibility of using a candidate gene identified through sequence haplotype and homology analysis as a breeding source is suggested.MethodsQTL for the Winkler scale was identified using a population of 120 double haploids derived from a cross between Cheongchoneg, Indica, and Nagdong, Japonica.Results and discussionA total of 79 candidate genes were detected in the identified QTL region, and OsHAq8 was finally screened. Through haplotype analysis, OsHAq8 was derived from the Indica group and orthologous to Graminae’s activator of Hsp90 ATPase, suggesting that it is a candidate gene involved in yield according to temperature during the growing period. The expression level of OsHAq8 increased as the Winkler scale increased. The findings of this study can serve as a crucial indicator for predicting harvest time and grain quality while achieving a stable yield through marker selection and adaptation to climate change. Climate change occurs more frequently. In these situations, it is very important to predict harvest time and apply relevant candidate genes to breeding. The candidate genes presented in this study can be effectively applied to rice breeding in preparation for climate change.
Potential therapeutic effects of an ayahuasca-inspired N,N-DMT and harmine formulation: a controlled trial in healthy subjects
Authors: Aicher Helena D. , Mueller Michael J. , Dornbierer Dario A. , Suay Dila , Elsner Claudius , Wicki Ilhui , Meling Daniel , Caflisch Luzia , Hempe Alexandra , Steinhart Camilla , Mueller Jovin , Von Rotz Robin , Kleim Birgit , Scheidegger Milan 
Published: January 2024

BackgroundThere is growing scientific evidence for the therapeutic benefits of the Amazonian plant-based psychedelic “ayahuasca” for neuropsychiatric disorders such as depression and anxiety. However, there are certain challenges when incorporating botanical ayahuasca into biomedical research and clinical therapy environments. Formulations inspired by ayahuasca, which contain specific and standardized active components, are a potential remedy.MethodsWe investigated subjective acute and persisting effects of a novel formulation containing the reversible monoamine oxidase inhibitor harmine (orodispersible tablet containing 100 mg MAO-I) and N,N-dimethyltryptamine (incremental intranasal dosing of up to 100 mg DMT), compared with two other conditions, namely harmine alone and placebo, in a crossover RCT in 31 healthy male subjects.ResultsDMT + harmine, but not harmine alone, induced a psychedelic experience assessed with the 5D-ASC rating scale [global score: F(2,60) = 80.21, p &lt; 0.001] and acute experience sampling items over time, characterized by psychological insights [PIQ, F(2,58.5) = 28.514, p &lt; 0.001], emotional breakthroughs [EBI, F(2,60) = 26.509, p &lt; 0.001], and low scores on the challenging experience questionnaire [CEQ, F(2,60) = 12.84, p &lt; 0.001]. Participants attributed personal and spiritual significance to the experience (GSR) with mainly positive persisting effects (PEQ) at 1- and 4-months follow-up. Acute drug effects correlated positively with persisting effects. We found no changes in trait measures of personality, psychological flexibility, or general well-being, and no increases in psychopathology (SCL-90-R) were reported.Discussion and ConclusionOur results suggest that the experience induced by the standardized DMT + harmine formulation induces a phenomenologically rich psychedelic experience, demonstrates good psychological safety and tolerability, is well tolerated, and induces beneficial psychological processes that could possibly support psychotherapy. Further studies are required to investigate the psychotherapeutic potential in patients.