bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gorham-Stout disease affecting the spine with cerebrospinal fluid leakage and Chiari-like tonsillar herniation: a rare case report and review of literature
Authors: Xing Qian-qian , Miao Meng , Zhang Qiao-wei , Wu Yue , He Fei-fang 
Published: February 2023

Abstract
Background
Gorham-Stout disease (GSD) is a very rare disorder characterized by massive osteolysis of poorly understood aetiology. The association between GSD involving the skull base and cerebrospinal fluid (CSF) leakage has been reported in the literature. However, few cases of CSF leakage and Chiari-like tonsillar herniation in GSD involving the spine have been reported.

Case presentation
We present the case of a 20-year-old man with GSD involving the thoracic and lumbar spine, which caused CSF leakage and Chiari-like tonsillar herniation. The patient underwent four spinal surgeries for osteolytic lesions of the spine over a 10-year period. Here, we discuss the possible aetiology of the development of CSF leakage. Epidural blood patch (EBP) was performed at the T11-T12 level to repair the CSF leakage. After EBP treatment, rebound intracranial hypertension (RIH) developed, and tonsillar herniation disappeared 2 months later.

Conclusions
GSD involving the spine with CSF leakage and Chiari-like tonsillar herniation is relatively rare. For patients who have undergone multiple spinal surgeries, minimally invasive treatment is an alternative treatment for CSF leakage. EBP can repair CSF leakage secondary to GSD and improve chronic brain sagging, with reversibility of Chiari-like malformations.
Multi-region sampling with paired sample sequencing analyses reveals sub-groups of patients with novel patient-specific dysregulation in Hepatocellular Carcinoma
Authors: Jeon Ah-Jung , Teo Yue-Yang , Sekar Karthik , Chong Shay Lee , Wu Lingyan , Chew Sin-Chi , Chen Jianbin , Kendarsari Raden Indah , Lai Hannah , Ling Wen Huan , Kaya Neslihan Arife , Lim Jia Qi , Ramasamy Adaikalavan , Oguz Gokce , Chung Alexander Yaw-Fui , Chan Chung Yip , Cheow Peng-Chung , Kam Juinn Huar , Madhavan Krishnakumar , Kow Alfred , Ganpathi Iyer Shridhar , Lim Tony Kiat Hon , Leow Wei-Qiang , Loong Shihleone , Loh Tracy Jiezhen , Wan Wei Keat , Soon Gwyneth Shook Ting , Pang Yin Huei , Yoong Boon Koon , Ong Diana Bee-Lan , Lim Jasmine , de Villa Vanessa H. , Cruz Rouchelle D.dela , Chanwat Rawisak , Thammasiri Jidapa , Bonney Glenn K. , Goh Brian K. P. , Tucker-Kellogg Greg , Foo Roger Sik Yin , Chow Pierce K. H. 
Published: February 2023

Abstract
Background
Conventional differential expression (DE) testing compares the grouped mean value of tumour samples to the grouped mean value of the normal samples, and may miss out dysregulated genes in small subgroup of patients. This is especially so for highly heterogeneous cancer like Hepatocellular Carcinoma (HCC).

Methods
Using multi-region sampled RNA-seq data of 90 patients, we performed patient-specific differential expression testing, together with the patients’ matched adjacent normal samples.

Results
Comparing the results from conventional DE analysis and patient-specific DE analyses, we show that the conventional DE analysis omits some genes due to high inter-individual variability present in both tumour and normal tissues. Dysregulated genes shared in small subgroup of patients were useful in stratifying patients, and presented differential prognosis. We also showed that the target genes of some of the current targeted agents used in HCC exhibited highly individualistic dysregulation pattern, which may explain the poor response rate.

Discussion/conclusion
Our results highlight the importance of identifying patient-specific DE genes, with its potential to provide clinically valuable insights into patient subgroups for applications in precision medicine.
A variant of RAG1 gene identified in severe combined immunodeficiency: a case report
Authors: Zhang Xinping , Kang Xiayan , Yang Meiyu , Cai Zili , Song Yulei , Zhou Xiong , Cao Jianshe , Wang Chengjuan , Huang Kang , Peng Yani , He Jie , Xiao Zhenghui 
Published: February 2023

Abstract
Background
The recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process. Mutations in RAG1 have been reported to be associated with several types of immune disorders. Typical clinical features driven by RAG1 variants include persistent infections, severe lymphopenia, and decreased immunoglobulin levels .

Case presentation
In this study, a 2-month-24-days-old infant with recurrent fever was admitted to our hospital with multiple infections and absence of T and B lymphocytes. The infant was diagnosed with severe combined immunodeficiency (SCID). A homozygous variation c.2147G>A (NM_000448.2: exonme2: c.2147G>A (p.Arg716Gln)) was identified in the RAG1 gene using whole-exome sequencing and Sanger sequencing. The predicted 3D structure of variant RAG1 indicated altered protein stability. Additionally, decreased expression of variant RAG1 gene was detected at both the mRNA and protein levels.

Conclusions
Our study identified a novel homozygous variant in RAG1 gene that causes SCID. This finding expands the variant spectrum of RAG1 in SCID and provides further evidence for the clinical diagnosis of SCID.
“He’s a little skinny and he’s a little wide.”: a mixed design investigation of American Indian student perceptions of healthy bodies
Authors: Cothran Donetta J. , Kulinna Pamela Hodges 
Published: February 2023

AbstractBackgroundChildhood is a critical developmental time of wellness patterns, yet little is known about what children know and believe. Even less is known about non-majority cultures like American Indian youth. The purpose of this study was to explore American Indian students’ understandings of nutrition and physical activity.MethodsThis mixed methods study took place in 10 schools in an American Indian community in the Southwestern U.S. Ninety American Indian students in grades 3–12 (8–19 years old) were interviewed. The interview included an 8-point body size chart. Numerical data were analyzed via t-test statistics while a constant comparison process and analysis was used for the interview data.ResultsStudents rated approximately 85% of students in Category 5 or smaller on the scale while placing 60% of adults at or above that size. There was a general trend of a larger body type for boys seen as healthy compared to that for girls. Students generally believed that their classmates were larger than the healthy body size.For students, a healthy body was the result of compliance with “eat right and exercise” rules. They exhibited little understanding of nutrition or physical activity and there were few developmental differences in understanding. Health was a corporeal concept and violators of the eat right and exercise rules were seen as lazy.ConclusionsStudents held narrow and corporeal focused notions of health focused on simple rules. People who violated the rules were “lazy”, a concept that seemed to underlie multiple constructs and a finding that holds true in other investigations. Students also reported few adult role models, a topic that should be explored with expanded family groups to better represent the multi-generational (e.g. grandparents, uncles, aunts) family housing common in the community. The findings are limited to a single American Indian community and a mixed design of relatively small numbers. This addition to the literature from a non-majority cultural group expands our knowledge of student perspectives on health. These findings can be used to create more effective curricula and interventions. Schools need more effective, but also alternately framed approaches that promote broader views of health.
Hierarchical multiple regression investigating factors associated with depressive symptoms in the middle-aged and elderly undergoing haemodialysis
Authors: Chiou Chou-Ping , Bai Yu-Ling , Lai Liu-Yuan , Hsieh Hsiu-Chu , Chang Shin-Tsu 
Published: February 2023

Abstract
Background
Depressive moods are commonly seen in patients who receive haemodialysis. This can cause a lack of compliance in their treatment procedures and increase the rate of hospitalization. This study aimed to investigate the relationship between social support and degree of depression in middle-aged and elderly patients undergoing haemodialysis and the predictors of depressive symptoms.

Methods
A cross-sectional correlational study was designed with a structured questionnaire survey. Patients over 40 years of age were included from five haemodialysis centres. Measures embraced a demographic and clinical characteristics questionnaire, the Centre for Epidemiologic Studies Depression Scale, and the Personal Resource Questionnaire 2000. Statistical analysis was performed using hierarchical multiple regression analysis.

Results
A total of 179 patients over 40 years of age were included from five haemodialysis centres in the analysis. The mean CES-D score was 19.0(12.3); the majority of participants (60.3%) had a CES-D score ≥ 15, indicating likely depressive status. The mean PRQ2000 score was 75.7(15.9). The proportional mean of the PRQ2000 was 72.11%, indicating moderate social support for participants in this study. Data disclosed that marital status, number of comorbidities, exercise behaviour, and social support could significantly predict depressive symptoms; total explanatory variance was 31.3%.

Conclusion
Health care professionals should identify those at high risk of depressive symptoms when they provide care to the middle-aged and elderly patients undergoing haemodialysis. These findings may lead to greater insights into the nursing and rehabilitative care of patients treated by chronic maintenance haemodialysis.
Health-based homophily in public housing developments
Authors: Heaton Brenda , Gondal Neha 
Published: February 2023

AbstractPublic housing residents in the United States face disproportionately high risks for disease, presenting an urgent need for interventions. Evidence suggests interventions leveraging social networks can be successful when relationships are homophilous, as this leads to pooling of risk behaviors among interconnected alters. Yet, we know little about networks of public housing residents. To assess the feasibility of network-based interventions, we investigate the incidence of health-based homophily in public housing developments in Boston, Massachusetts. Employing multilevel models (HLM), we find that respondents report their own health characteristics to be similar to their network partners on oral health, weight, and consumption of sugar-sweetened beverages and foods. We discuss the implications of our findings for health-based interventions in low-income communities.
Outcomes of endodontic microsurgery using different calcium silicate–based retrograde filling materials: a cohort retrospective cone-beam computed tomographic analysis
Authors: Eskandar Rawan F. , Al-Habib Mey A. , Barayan Mohammed A. , Edrees Hadeel Y. 
Published: February 2023

Abstract
Purpose
To evaluate the outcomes of endodontic microsurgery (EMS) using mineral trioxide aggregate (MTA; Dentsply Sirona, Charlotte, NC, USA), EndoSequence root repair material (RRM putty; Brasseler, Savannah, GA), and injectable Bioceramic (BC) sealer (Brasseler USA) followed by the application of RRM putty (lid technique) as root-end filling materials.

Methods
One hundred and ten patients who underwent EMS between 2016 and 2020 at King Abdulaziz University Dental Hospital were recruited for clinical and radiographic follow-up after a minimum of 1 year. Radiographic assessment was performed using periapical radiographs (PAs) and cone-beam computed tomography (CBCT). Volumetric analysis of periapical radiolucencies (PARLs) was performed using Amira software.

Results
Seventy-nine patients (103 teeth: MTA group, n = 28; RRM putty, n = 41; lid technique, n = 34), attended the follow-up visit, with an average follow-up period of 24 months (recall rate = 74.5%). Of the 103 teeth, 40 were anteriors, 24 were premolars, and 39 were molars. All three groups of retrograde filling materials (MTA, RRM putty, and lid technique) showed high success rates on both PA (85.7, 85.4, 94.1%, respectively) and CBCT imaging (67.9, 75.6, 88.2%, respectively), without any significant difference among the success rates of different materials. Overall, a slight agreement was noted between the PA and CBCT outcomes, with a statistically significant difference (P = 0.029). None of the patient-, tooth-, or treatment-related factors significantly influenced the outcomes of EMS. Adequate density of root canal filling material was significantly associated with a high percentage of completely healed cases on CBCT (P = 0.044). PARL volumes were reduced significantly over 1–4 years follow-up after EMS (P < 0.001)

Conclusions
EMS showed high success rates on both PA and CBCT when MTA, RRM putty or lid technique were used as retrograde filling materials. CBCT imaging is more precise than PA in detecting the healing outcomes of EMS.
Developing a model for rehabilitation in the home as hospital substitution for patients requiring reconditioning: a Delphi survey in Australia
Authors: Poulos Roslyn G , Cole Andrew M , Warner Kerry N , Faux Steven G , Nguyen Tuan-Anh , Kohler Friedbert , Un Fey-Ching , Alexander Tara , Capell Jacquelin T , Hilvert Dan R , O’Connor Claire MC , Poulos Christopher J 
Published: February 2023

AbstractBackgroundReconditioning for patients who have experienced functional decline following medical illness, surgery or treatment for cancer accounts for approximately 26% of all reported inpatient rehabilitation episodes in Australia. Rehabilitation in the home (RITH) has the potential to offer a cost-effective, high-quality alternative for appropriate patients, helping to reduce pressure on the acute care sector. This study sought to gain consensus on a model for RITH as hospital substitution for patients requiring reconditioning.MethodsA multidisciplinary group of health professionals working in the rehabilitation field was identified from across Australia and invited to participate in a three-round online Delphi survey. Survey items followed the patient journey, and also included items on practitioner roles, clinical governance, and budgetary considerations. Survey items mostly comprised statements seeking agreement on 5-point Likert scales (strongly agree to strongly disagree). Free text boxes allowed participants to qualify item answers or make comments. Analysis of quantitative data used descriptive statistics; qualitative data informed question content in subsequent survey rounds or were used in understanding item responses.ResultsOne-hundred and ninety-eight health professionals received an invitation to participate. Of these, 131/198 (66%) completed round 1, 101/131 (77%) completed round 2, and 78/101 (77%) completed round 3. Consensus (defined as ≥ 70% agreement or disagreement) was achieved on over 130 statements. These related to the RITH patient journey (including patient assessment and development of the care plan, case management and program provision, and patient and program outcomes); clinical governance and budgetary considerations; and included items for initial patient screening, patient eligibility and case manager roles. A consensus-based model for RITH was developed, comprising five key steps and the actions within each.ConclusionsStrong support amongst survey participants was found for RITH as hospital substitution to be widely available for appropriate patients needing reconditioning. Supportive legislative and payment systems, mechanisms that allow for the integration of primary care, and appropriate clinical governance frameworks for RITH are required, if broad implementation is to be achieved. Studies comparing clinical outcomes and cost–benefit of RITH to inpatient rehabilitation for patients requiring reconditioning are also needed.
Evaluation of enhanced home care support clinics regarding emergency home visits, hospitalization, and end-of-life care: a retrospective cohort study in a city of Japan
Authors: Sun Yu , Iwagami Masao , Sakata Nobuo , Ito Tomoko , Inokuchi Ryota , Komiyama Jun , Kuroda Naoaki , Tamiya Nanako 
Published: February 2023

Abstract
Background
To meet the increasing demand for home healthcare in Japan as the population ages, home care support clinics/hospitals (HCSCs) and enhanced HCSCs were introduced in 2006 and 2012, respectively. This study aimed to evaluate whether enhanced HCSCs fulfilled the expected role in home healthcare.

Methods
We conducted a retrospective cohort study using linked medical and long-term care claims data from a municipality in Japan. Participants were ≥ 65 years of age, had newly started regular home visits between July 2014 and March 2018, and used either conventional or enhanced HCSCs. Patients were followed up for one year after they started regular home visits or until the month following the end of the regular home visits if they ended within one year. The outcome measures were (i) emergency home visits at all hours and on nights and holidays at least once, respectively, (ii) hospitalization at least once, and (iii) end-of-life care, which was evaluated based on the place of death and whether a physician was present at the time of in-home death. Multivariable logistic regression analyses were conducted for the outcomes of emergency home visits and hospitalizations.

Results
The analysis included 802 patients, including 405 patients in enhanced HCSCs and 397 patients in conventional HCSCs. Enhanced HCSCs had more emergency home visits at all hours than conventional HCSCs (65.7% vs. 49.1%; adjusted odds ratio 1.70, 95% CI [1.26–2.28]), more emergency home visits on nights and holidays (33.6% vs. 16.7%; 2.20 [1.55–3.13]), and fewer hospitalizations (21.5% vs. 32.2%; 0.55 [0.39–0.76]). During the follow-up period, 229 patients (152 patients in enhanced HCSCs and 77 patients in HCSCs) died. Deaths at home were significantly more common in enhanced HCSCs than in conventional HCSCs (80.9% vs. 64.9%; p < .001), and physician-attended deaths among those who died at home were also significantly more common in enhanced HCSCs (99.2% vs. 78.0%; p < .001).

Conclusions
This study confirms that enhanced HCSCs are more likely to be able to handle emergency home visits and end-of-life care at home, which are important medical functions in home healthcare. Further promotion of enhanced HCSCs would be advantageous.
Establishment and characterization of canine mammary tumoroids for translational research
Authors: Raffo-Romero Antonella , Aboulouard Soulaimane , Bouchaert Emmanuel , Rybicka Agata , Tierny Dominique , Hajjaji Nawale , Fournier Isabelle , Salzet Michel , Duhamel Marie 
Published: February 2023

Abstract
Background
Cancer heterogeneity is a main obstacle for the development of effective therapies, as its replication in in vitro preclinical models is challenging. Around 96% of developed drugs are estimated to fail from discovery to the clinical trial phase probably because of the unsuitability and unreliability of current preclinical models (Front Pharmacol 9:6, 2018; Nat Rev Cancer 8: 147–56, 2008) in replicating the overall biology of tumors, for instance the tumor microenvironment. Breast cancer is the most frequent cancer among women causing the greatest number of cancer-related deaths. Breast cancer can typically be modeled in vitro through the use of tumoroids; however, current approaches using mouse tumoroids fail to reproduce crucial aspect of human breast cancer, while access to human cells is limited and the focus of ethical concerns. New models of breast cancer, such as companion dogs, have emerged given the resemblance of developed spontaneous mammary tumors to human breast cancer in many clinical and molecular aspects; however, they have so far failed to replicate the tumor microenvironment. The present work aimed at developing a robust canine mammary tumor model in the form of tumoroids which recapitulate the tumor diversity and heterogeneity.

Results
We conducted a complete characterization of canine mammary tumoroids through histologic, molecular, and proteomic analysis, demonstrating their strong similarity to the primary tumor. We demonstrated that these tumoroids can be used as a drug screening model. In fact, we showed that paclitaxel, a human chemotherapeutic, could kill canine tumoroids with the same efficacy as human tumoroids with 0.1 to 1 μM of drug needed to kill 50% of the cells. Due to easy tissue availability, canine tumoroids can be produced at larger scale and cryopreserved to constitute a biobank. We have demonstrated that cryopreserved tumoroids keep the same histologic and molecular features (ER, PR, and HER2 expression) as fresh tumoroids. Furthermore, two cryopreservation techniques were compared from a proteomic point of view which showed that tumoroids made from frozen material allowed to maintain the same molecular diversity as from freshly dissociated tumor.

Conclusions
These findings revealed that canine mammary tumoroids can be easily generated and may provide an adequate and more reliable preclinical model to investigate tumorigenesis mechanisms and develop new treatments for both veterinary and human medicine.
Associations of the circulating levels of cytokines with risk of amyotrophic lateral sclerosis: a Mendelian randomization study
Authors: Liu Bin , Lyu Linshuoshuo , Zhou Wenkai , Song Jie , Ye Ding , Mao Yingying , Chen Guo-Bo , Sun Xiaohui 
Published: February 2023

Abstract
Background
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that is accompanied by muscle weakness and muscle atrophy, typically resulting in death within 3–5 years from the disease occurrence. Though the cause of ALS remains unclear, increasing evidence has suggested that inflammation is involved in the pathogenesis of ALS. Thus, we performed two-sample Mendelian randomization (MR) analyses to estimate the associations of circulating levels of cytokines and growth factors with the risk of ALS.

Methods
Genetic instrumental variables for circulating cytokines and growth factors were identified from a genome-wide association study (GWAS) of 8293 European participants. Summary statistics of ALS were obtained from a GWAS including 20,806 ALS cases and 59,804 controls of European ancestry. We used the inverse-variance weighted (IVW) method as the primary analysis. To test the robustness of our results, we further performed the simple-median method, weighted-median method, MR-Egger regression, and MR pleiotropy residual sum and outlier test. Finally, a reverse MR analysis was performed to assess the possibility of reverse causation between ALS and the cytokines that we identified.

Results
After Bonferroni correction, genetically predicted circulating level of basic fibroblast growth factor (FGF-basic) was suggestively associated with a lower risk of ALS [odds ratio (OR): 0.74, 95% confidence interval (95% CI): 0.60–0.92, P = 0.007]. We also observed suggestive evidence that interferon gamma-induced protein 10 (IP-10) was associated with a 10% higher risk of ALS (OR: 1.10, 95% CI: 1.03–1.17, P = 0.005) in the primary study. The results of sensitivity analyses were consistent.

Conclusions
Our systematic MR analyses provided suggestive evidence to support causal associations of circulating FGF-basic and IP-10 with the risk of ALS. More studies are warranted to explore how these cytokines may affect the development of ALS.