bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adulthood consequences of spinal deformity surgeries in neurofibromatosis type 1 patients
Authors: Tsukamoto Arihiko , Uno Koki , Suzuki Teppei , Ito Masaaki , Nakashima Keita , Kakutani Kenichiro , Takeoka Yoshiki 
Published: October 2024

Abstract

Background
Spinal deformity associated with Neurofibromatosis type1(NF-1) is known to be intractable, and it’s surgical outcome is known to be poor. However, it is not clear whether or not patients are able to lead a healthy social life as adults, and we investigated the surgical outcomes of patients who had reached adulthood after surgery.
Methods
Thirty-eight patients (16 males, 22 females) who had undergone spinal deformity surgery and had reached the age of 18 years at last follow up were included. X-rays, surgery, complications, survival rate, employment status, and married rate were evaluated. HR-QOL was compared with those of adolescent idiopathic scoliosis(AIS) operated in our hospital.
Results
The mean age at the initial surgery was 14.6［4〜49］years, and the mean age at the last observation was 29.4［18〜56］ years. Anterior and posterior fusion were performed in 18 patients, posterior fixation was performed in 20 patients. Five patients died (3: malignant schwannoma, 1:brain tumor, 1:unknown), with a mean age of 27.0［18〜35］ years at the time of death and 12.2［3〜21］ years after the last surgery. Two patients over 40 years of age were treated for vascular system disorders, and 1 patient for a brain tumor. All survivors were ambulators except 1 case of non-ambulator due to neoplastic destruction of the hip joint. The working status was light work in 13 patients, desk work in 7, unemployed in 4, students in 8. Four patients were married.
SRS-22 and ODI in the NF-1 group were lower than in AIS, and significant differences were observed especially in Function and Pain, Self-image.
Conclusions
At an average follow-up of 14.8 years after surgery, 5 of 38 patients had died, 29 patients (76.3％) were able to lead a social life. However, HR-QOL was lower than that of AIS.
Patients undergoing NF-1 scoliosis surgery require careful long-term follow-up, taking into account the possibility of reoperation due to osteolysis, malignant changes in the tumor, and vascular problems due to vascular fragility.
Pre-hospital Emergency and Legal Challenges in Iran: a Qualitative Study
Authors: Sheikhi Rahim Ali , Heidari Mohammad 
Published: October 2024

Abstract

Background
As the first level of people's contact with the healthcare system, the Pre-hospital Emergency Staff )PHES) often encounter patient and companion complaints and legal challenges. Frequent court appearances consume the time of PHES and negatively impact their morale, leading to dissatisfaction and job burnout. This study aims to identify the factors contributing to legal challenges and complaints against PHES.
Method
A qualitative study was conducted, and the data were collected through a focus group session and semi-structured interviews with 21 Emergency Medical Technicians (EMTs) and 4 Emergency Medical Services (EMS) managers with at least two years of experience in Pre-hospital Emergency Medical Services (PEMS). The data were analyzed using thematic content analysis. MAXQDA/10 software was also used for data analysis and code extraction.
Results
The content analysis of the focus group and all interviews extracted four main areas: the nature of the EMS profession, mismanagement in PEMS, legal ambiguities, and other stakeholders' performance.
Conclusion
To mitigate legal challenges, training employees on legal matters, supporting them in fulfilling their duties, coordinating and collaborating with all stakeholders, and educating the public about pre-hospital emergency procedures are important.
Novel Histone Acetylation Regulators: Mediators of Tumor Microenvironment Infiltration and Prognostic Model in Cervical Cancer Patients
Authors: Mo Dan , Zeng Zhonghong , Lin Mingmei , Luo Yongjin , Chen Yuxin , Yang Yihua , Dong Mingyou 
Published: October 2024

Abstract

Background: Cervical cancer (CC) is the second most prevalent mortality rate for women’ cancer globally and the fourth most prevalent gynecological tumor. Dysregulation of histone acetylation (HA) influences the pathogenesis of cancer. However, there is a dearth of comprehensive research on HA in CC.
Methods: We conducted univariate and multivariate Cox and LASSO regression analyses to assess the prognostic relevance of 36 HA-related genes identified in previous studies. A prognostic model was developed by utilizing the TCGA cohort as the training dataset and the screened HA genes. The model was subsequently validated on GSE68339 dataset. In order to confirm the accuracy of the model, Kaplan–Meier analysis and time-dependent receiver operating characteristics (ROC) were implemented. The study also investigated the associations between immune cell infiltration characteristics, immune checkpoint genes, and drug sensitivity. Lastly, the essential genes were verified through qRT-PCR and immunohistochemistry.
Results: KAT2B, HDAC5, and HDAC10were identified as pivotal for prognosis among the 36 HA genes that were analyzed. The prognostic model classified TCGA patients into high- and low-risk groups based on risk scores, revealing significantly reduced overall survival (OS) in the high-risk group. High-risk patients demonstrated decreased immune infiltration and checkpoint gene expression. KAT2B, HDAC5, and HDAC10 were downregulated in CC compared to normal tissues, which was correlated with poorer 5-year OS rates. qRT-PCR and immunohistochemistry confirmed reduced expression of HDAC5 and HDAC10 in clinical samples.
Conclusions: We propose a prognostic model based on three HA genes that demonstrates a well predictive effect on CC patients, offering predictive value and potential application in clinical treatments.
Could serum Raftlin and GPER-1levels be new biomarkers for early detection of non-small cell lung cancer? Runnign Head: Evaluation of GPER-1 And Raftlin Levels in Lung Cancer
Authors: ELİÇORA Aykut , GÜVEN Berrak , ENGİN Hüseyin , ÇEVİK Gokcen Tugba , SEZER Hüseyin Fatih 
Published: October 2024

Abstract

Background
Lung cancer is the leading cause of cancer-related deaths worldwide. Therefore, the search for new biomarkers continues in order to diagnose lung cancer at an early stage. In this study, we investigated blood levels of G-protein associated membrane estrogen receptor (GPER)-1 and Raftlin as markers of early-stage in lung cancer.
Methods
Lung cancer cases admitted to our hospital between 2016 and 2018 were included in our study. GPER-1 and Raftlin levels were measured by Enzyme-Linked Immunosorbent Assay (ELISA) in blood samples taken from patients diagnosed with lung cancer and healthy volunteers.
Results
There were 64 cases in total, 32 cases in lung cancer group and 32 cases in control group. We evluated GPER-1 levels for each group. GPER-1 level was 2.54 (IQR: 1.08–5.78) ng/mL in the lung cancer group and 5 (IQR: 2.69–7.99) ng/mL in the control group. ROC analysis value for GPER-1, (AUC) was 0.66 (p < 0.01). Raftlin levels were 4.5 (IQR: 3.3-11.52) ng/mL in control group and 7.77 (IQR: 6.24–9.85) ng/mL in lung cancer group. ROC analysis value for Raftlin, (AUC) was 0.629(P = 0.09).
Conclusions
In our study, there was no statistically significant difference between our groups in terms of Raftlin values. Therefore, it was thought that Raftlin could not be a specific marker in the diagnosis of lung cancer. GPER-1 was found to be lower in the lung cancer group than in healthy individuals. Therefore, it was thought that GPER-1 could be evaluated as a diagnostic marker in lung cancer. However, we think that more definitive results can be obtained by determining the tissue and expression level of GPER in lung cancer with further studies.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy
Authors: Inoue Michio , Jayaraman Divya , Bengoechea Rocio , Bhadra Ankan , Genetti Casie A. , Aldeeri Abdulrahman A. , Turan Betül , Pacheco-Orozco Rafael Adrian , Al-Maawali Almundher , Hashmi Nadia Al , Zamani Ayşe Gül , Göktaş Emine , Pekcan Sevgi , Çağlar Hanife Tuğçe , True Heather , Beggs Alan H. , Weihl Conrad C. 
Published: October 2024

Abstract

Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy with early respiratory failure and spinal rigidity, presenting from infancy to adulthood. This study investigated the broader clinical and genetic spectrum of DNAJB4 myopathy. In this study, we performed whole-exome sequencing on seven patients with early respiratory failure of unknown genetic etiology. We identified five distinct pathogenic variants in DNAJB4 in five unrelated families of diverse ethnic backgrounds: three loss-of-function variants (c.547C > T, p.R183*; c.775C > T, p.R259*; an exon 2 deletion) and two missense variants (c.105G > C, p.K35N; c.181A > G, p.R61G). All patients were homozygous. All affected individuals exhibited early respiratory failure, and patients from three families had rigid spine syndrome with axial weakness in proportion to appendicular weakness. Additional symptoms included dysphagia, ankle contractures, scoliosis, neck stiffness, and cardiac dysfunction. Notably, J-domain missense variants were associated with a more severe phenotype, including an earlier age of onset and a higher mortality rate, suggesting a strong genotype‒phenotype correlation. Consistent with a loss of function, the nonsense variants presented decreased stability. In contrast, the missense variants exhibited normal or increased stability but behaved as loss-of-function variants in yeast complementation and TDP-43 disaggregation assays. Our findings suggest that DNAJB4 is an emerging cause of myopathy with rigid spine syndrome of variable age of onset and severity. This diagnosis should be considered in individuals presenting with suggestive symptoms, particularly if they exhibit neck stiffness during infancy or experience respiratory failure in adults without significant limb muscle weakness. Missense variants in the J-domain may predict a more severe phenotype.
Generation Victoria (GenV): Protocol for a longitudinal birth cohort of Victorian children and their parents
Authors: Hughes Elizabeth K. , Siero William , Gülenç Alisha , Clifford Susan A. , Frugier Tony , Hall Simon M. , Mohal Jatender , North Kathryn , Zaritski Natasha , Goldfeld Sharon , Saffery Richard , Wake Melissa 
Published: October 2024

Abstract

Background
In a world confronted with new and connected challenges, novel strategies are needed to help children and adults achieve their full potential, to predict, prevent and treat disease, and to achieve equity in services and outcomes. Australia’s Generation Victoria (GenV) cohorts are designed for multi-pronged discovery (what could improve outcomes?) and intervention research (what actually works, how much and for whom?). Here, we describe the key features of its protocol.
Methods
GenV is a whole-population longitudinal platform open to all ≈ 150,000 children born within a two-year window and residing in the state of Victoria and their parents. GenV is guided by its 6 principles of Inclusivity, Collaboration, Sustainability, Enhancement, Systematised Processes and Value and enabled by large-scale biobanking, IT and novel high-throughput technology infrastructure. Successive recruitment phases were designed to maximise GenV’s inclusivity: (1) a smaller Advance Cohort from December 2020; (2) Newborn recruitment, with presence in 58 Victorian maternity services supporting face-to-face approach to parents of babies born 4 October 2021-3 October 2023; (3) Intensive remote recruitment to mid-2024 targeting those missed around birth; and (4) Ongoing indefinite enrolment of in-age children and their parents. Participants consent to universal (1) data linkage (e.g., state and federal physical and mental health, education, social, geospatial, ecological); (2) biosamples storage and use (e.g., residual clinical pregnancy and newborn screening, GenV-collected perinatal parent/infant saliva); (3) phenotypic and biosamples collection waves at child ages 6, 11 and 16 years, likely in schools and remotely for parents; and (4) opportunities for collaborative research integrated into GenV as a population registry (e.g., trials, natural experiments, depth subcohorts). Many participants supplement universal data with additional biosamples (e.g., infant stool, breast milk) and brief digital remote ‘GenV and Me’ assessments over the first 5 years. GenV will make all research data available, adhering to the principles of Open Science.
Discussion
Launched in the COVID-19 pandemic and committed to diversity and inclusivity, GenV’s parallel consented child and pre-midlife cohorts will be positioned to help address today’s pressing issues such as chronic mental and physical health conditions, inequity, public health crises such as pandemics, and climate harm.
Trial Registration
ClinicalTrials.gov: NCT05394363; retrospectively registered 23 May 2022 (8 months into recruitment)
TNMpBC-NeoBCSS model: A Breast Cancer Specific Survival Prediction Model for Triple-negative Metaplastic Breast Carcinoma Patients with Neoadjuvant Therapy
Authors: Ni Peng , Wang Yu , Bai Xiaorong , Yang Zejian , Wu Tao , Gao Chen , Cheng Yuan , Niu Ligang , Yan Yu , Zhou Yuhui , Shi Bohui , Ge Guanqun , Chen Yilong , Ge Zhishen , Jiang Yina , Zhang Ran , Liu Fan , Wang Bo , Ren Yu , Zhou Can 
Published: October 2024

Abstract

Background: The breast cancer specific survival (BCSS) benefits of Neoadjuvant therapy (NeoAT) for triple-negative metaplastic breast cancer (TNMpBC) was uncertain. This study aimed to develop a prediction model for assessing the BCSS for TNMpBC patients with NeoAT.
Methods: The primary cohort of 1163 patients with TNMpBC, from which a nomogram was established based on the results of a LASSO regression analysis, was derived from multi-centers data in China and the SEER database. This model was further validated by an independent cohort of 155 TNMpBC patients with NeoAT, with discrimination and calibration assessed.
Results: Totally 155 (13.3%) TNMpBC patients received NeoAT, with 45 (29.0%) cases demonstrating pathologic complete response (pCR),were enrolled. Subjects acquired pCR had superior BCSS. Four variables significantly associated with BCSS were incorporated in the establishment of model: age at diagnosis, T stage, N stage, and response to NeoAT. This model was well validated , with a C-index of 0.82, and area under the curves of 0.838, 0.866 in training cohort, respectively, for 3- years and 5-years BCSS. Based on the cutoff scores from the TNMpBC-NeoBCSS model and calculated by X-tile analysis, patients in high risk group had a inferior BCSS (HR=6.77, P< 0.0001) when compared with those in low-risk group.
Conclusion: TNMpBC-NeoBCSS model provides a favorable tool for assessing the BCSS for the TNMpBC patients with NeoAT and may help doctors and TNMpBC patients optimally make decision on the necessity of neoadjuvant therapy on the basis of individual BCSS.
Prevalence of Fungal Urinary Tract Infections in Madinah Region
Authors: Safdar Osama , Khateb Aiah , Alamri Lina , Alseyoufi Ward , Alluqmani Raghad , Almusaiferi Yara 
Published: October 2024

Abstract

Background
Urinary tract infections (UTIs) are prevalent illnesses, affecting more than 404.6 million people globally, representing around 5.23% of the total global population. Forty percent of UTIs are caused by fungi. Candida albicans, which is naturally found on the human body, commonly causes candiduria in predisposed individuals.
Aim
This study aims to enhance understanding of the risk factors, clinical manifestations, and appropriate management of fungal UTIs. We hypothesized an increase in the prevalence of fungal disease in UTIs (FUTIs) in Madinah region, Saudi Arabia.
Materials and Methods
The study uses an observational-retrospective approach and includes all hospitalized patients with positive fungal urine cultures across all departments from June 2016 to October 2019. The prevalence, incidence, and comorbidity of FUTIs are investigated through data collection from King Fahd Hospital in Madinah, Saudi Arabia.
Results
The study, based on 87,447 admissions over 7 years, found a prevalence of FUTIs of 0.052% in the patients. The incidence rate began at 5.4 per 1000 individuals in 2016 and dramatically increased to 206 per 1000 individuals by 2019. This represents an approximately 40-fold increase over the initial rate. C. albicans was the most identified organism, accounting for 86.9% of the cases. The most prevalent comorbidity observed was renal system diseases.
Conclusion
The study highlights the increase of FUTIs, and the importance of understanding the risk factors to apply preventative measures and ensure prompt and effective intervention. It also underscores the need for continuous monitoring of FUTI in other Madinah hospitals and in Saudi Arabia
Role of Cathepsin K in Bone Invasion of Pituitary Adenomas: A Dual Mechanism Involving Cell Proliferation and Osteoclastogenesis
Authors: Liu Hongyan , Wang Peng , Zhao Jian , Mu Yiming , Gu Weijun 
Published: October 2024

Abstract

Purpose: This study aimed to explore the regulation and mechanism of Cathepsin K (CTSK) in bone invasive pituitary adenomas (BIPAs).
Experimental Design: A total of 1437 patients with pituitary adenomas were included and followed up. RNA sequencing, immunohistochemistry, and RT-PCR were used to analyze to detect CTSK expression. The impact of CTSK on cellular proliferation, bone matrix degradation, and osteoclasts differentiation was determined by gain/loss of function experiments in vitro and vivo. The exploration of signaling pathway was determined by molecular biology experiments.
Results: Here, we reported a significant fraction (~10%) of pituitary adenoma patients developed bone invasion. Bone invasion was correleted with tumor recurrence. Shorter recurrence free survival was found in BIPA patients. CTSK expression was increased in BIPA patients and strongly associated with worse prognosis. Increased CTSK expression promoted pituitary adenoma cell proliferation via activation of mammalian target of rapamycin (mTOR) signaling pathway and bone invasion via increasing osteoclast differentiation in vitro and in vivo. CTSK inhibitor (odanacatib) could inhibit pituitary adenoma cell proliferation and bone invasion in vitro and in vivo. CTSK promoted osteoclast differentiation by promoting the RANKL expression of MC3T3-E1 cells through interaction with TLR4.
Conclusion: CTSK may become a novel predictive biomarker and potential therapeutic target for BIPAs.
Distinct Developmental Outcomes in DNA repair-deficient FANCC c.67delG Mutant and FANCC-/- Mice
Authors: Green Douglas , beesetti swarna , Guy Cliff , Sirasanagandla Shyam , Yang Mao , Sumpter Rhea , Tillman Heather , Pelletier Stephane , Wlodarski Marcin 
Published: October 2024

Abstract

Fanconi Anemia (FA) is an autosomal recessive disorder characterized by diverse clinical manifestations such as aplastic anemia, cancer predisposition, and developmental defects including hypogonadism, microcephaly, organ dysfunction, infertility, hyperpigmentation, microphthalmia, and skeletal defects. In addition to the well described defects in DNA repair, mitochondrial dysfunction due to defects in mitochondrial autophagy (mitophagy) is also associated with FA, although its contribution to FA phenotypes is unknown. This study focused on the FANCC gene, which, alongside other FA genes, is integral to DNA repair and mitochondrial quality control. In the present study, we created a FANCC mutant mouse model (FANCC c.67delG) that is defective in DNA repair but proficient in mitophagy. We found that the FANCC c.67delG mutant mouse model recapitulates some phenotypes observed in FA patients, such as cellular hypersensitivity to DNA cross linking agents and hematopoietic defects. In contrast, FA phenotypes such as microphthalmia, hypogonadism, and infertility, present in FANCC-deficient mice, were absent in the FANCC c.67delG mice, suggesting that the N-terminal 55 amino acids of FANCC are dispensable for these developmental processes. Furthermore, the FANCC c.67delG mutation preserved mitophagy, unlike the FANCC null mutation, leading to the accumulation of damaged mitochondria. This study highlights the multifaceted nature of the FANCC protein, with distinct domains responsible for DNA repair and mitophagy. Our results suggest that developmental defects in FA may not solely stem from DNA repair deficiencies but could also involve other functions, such as mitochondrial quality control. Overall, our findings provide insight into the mechanistic underpinnings of the FA disorder in humans and FA-like syndromes in cattle, such as Brachyspina syndrome. We suggest that this model will be a useful tool for the investigation of FA and for the development of new therapeutic strategies of inherited hematopoietic diseases.
Joint developmental trajectories of perinatal depression and anxiety and their predictors: a longitudinal study
Authors: Jiang Minhui , Zheng Han , Wu Zhenhong , Zheng Xiaomin , Feng Yaling 
Published: October 2024

Abstract

Background
Perinatal depression and anxiety can be experienced simultaneously and change over time. This study aimed to explore the independent and joint developmental trajectories and predictors of perinatal depression and anxiety.
Methods
From January 2022 to December 2023, a total of 1062 pregnant women from Affiliated Women’s Hospital of Jiangnan University were surveyed for depression and anxiety symptoms using the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder Scale (GAD-7) in early pregnancy (T1, 0–13+ 6 weeks), mid-term pregnancy (T2, 14–27+ 6 weeks), late pregnancy (T3, 28–41 weeks), and 42 days postpartum (T4). Parallel-Process Latent Class Growth Model (PPLCGM) was performed to identify the joint developmental trajectories of perinatal depression and anxiety, and logistic regression was used to analyze factors of joint trajectories.
Results
Perinatal depression and anxiety each showed four heterogeneous developmental trajectories, and three joint developmental trajectories were identified: "high-slightly-decreasing depression and high-decreasing anxiety group" (3%), "low-stable depression and low-stable anxiety group" (71%), and "moderate-slightly-increasing depression and moderate-decreasing anxiety group" (26%). Adverse maternal history, history of anxiety and depression, and work stress were risk factors for the joint developmental trajectory of perinatal depression and anxiety, while regular exercise, paid work and social support were protective factors.
Conclusions
Three joint developmental trajectories for perinatal depression and anxiety were identified, demonstrating group heterogeneity. Perinatal healthcare providers should pay attention to the mental health history of pregnant women, conduct multiple assessments of perinatal anxiety and depression, prioritize individuals with risk factors, advocate for regular exercise, work participation, and provide greater social support.