bluuebunny/crossref_metadata_2025_split huggingface dataset:
Systematic investigation of imprinted gene expression and enrichment in the mouse brain explored at single-cell resolution
Authors: Higgs M. J. , Hill M. J. , John R. M. , Isles A. R. 
Published: November 2022

Abstract
Background
Although a number of imprinted genes are known to be highly expressed in the brain, and in certain brain regions in particular, whether they are truly over-represented in the brain has never been formally tested. Using thirteen single-cell RNA sequencing datasets we systematically investigated imprinted gene over-representation at the organ, brain region, and cell-specific levels.

Results
We established that imprinted genes are indeed over-represented in the adult brain, and in neurons particularly compared to other brain cell-types. We then examined brain-wide datasets to test enrichment within distinct brain regions and neuron subpopulations and demonstrated over-representation of imprinted genes in the hypothalamus, ventral midbrain, pons and medulla. Finally, using datasets focusing on these regions of enrichment, we identified hypothalamic neuroendocrine populations and the monoaminergic hindbrain neurons as specific hotspots of imprinted gene expression.

Conclusions
These analyses provide the first robust assessment of the neural systems on which imprinted genes converge. Moreover, the unbiased approach, with each analysis informed by the findings of the previous level, permits highly informed inferences about the functions on which imprinted gene expression converges. Our findings indicate the neuronal regulation of motivated behaviours such as feeding and sleep, alongside the regulation of pituitary function, as functional hotspots for imprinting. This adds statistical rigour to prior assumptions and provides testable predictions for novel neural and behavioural phenotypes associated with specific genes and imprinted gene networks. In turn, this work sheds further light on the potential evolutionary drivers of genomic imprinting in the brain.
Overall survival and toxicity of Y90 radioembolization for hepatocellular carcinoma patients in Barcelona Clinic Liver Cancer stage C (BCLC-C)
Authors: Goswami Pulak , Adeniran Oladapo R. , K. Frantz Shelby , Matsuoka Lea , Du Liping , Gandhi Ripal T. , Collins Zachary S. , Matrana Marc R. , Petroziello Michael , Brower Jayson S. , Sze Daniel Y. , Kennedy Andrew S. , Golzarian Jafar , Wang Eric A. , Brown Daniel B. 
Published: November 2022

Abstract
Introduction
National Comprehensive Cancer Network HCC guidelines recommend Y90 to treat BCLC-C patients only in select cases given the development of systemic regimens. We sought to identify ideal candidates for Y90 by assessing survival and toxicities in this patient group.

Materials and methods
The Radiation-Emitting Selective Internal radiation spheres in Non-resectable tumor registry is a prospective observational study (NCT: 02,685,631). Patients with advanced HCC were stratified into 3 groups based on tumor location, Eastern Cooperative Oncology Group (ECOG) performance status, and liver function. Group 1: liver isolated HCC, ECOG 0 and Child Pugh (CP) A (n = 12, 16%), Group 2: liver isolated HCC, ECOG ≥ 1 or CP B/C (n = 37, 49%), and Group 3: extrahepatic HCC with any ECOG or CP score (n = 26, 35%). Patients in any group could have macrovascular invasion. Overall survival (OS) and progression-free survival (PFS) with 95% confidence intervals (95% CI) were calculated. Grade 3 + toxicities were tracked using Common Terminology Criteria for Adverse Events v5. Cox proportional hazard model was performed to determine factors affecting OS.

Results
Seventy-five BCLC-C patients treated between 2015 and 2019 were reviewed. The groups were similar in age, sex, race, and ethnicity (all p > 0.05). Bilobar disease was least common in Group 1 (p < 0.001). Median OS of the entire cohort was 13.6 (95% CI 7.5–16.1) months. Median OS of Groups 1–3 were 21.8, 13.1 and 11.5 months respectively (p = 0.6). Median PFS for the cohort was 6.3 (4.8–14.7) months. Median PFS for group 1 was not reached. Mean PFS for Group 1 was 17.3 ± 4.8 months. Median PFS for Groups 2 and 3 was 6.8 and 5.9 months (X2 = 1.5, p = 0.5). Twenty-four Grade 3 or greater toxicities developed, most commonly hyperbilirubinemia (8/75, 11%) and thrombocytopenia (2/75, 3%). The incidence of toxicities between groups was similar (all p > 0.05). Cox Proportional Hazard analysis predicted shorter OS with CP class B/C (X2 = 6.7, p = 0.01), while macrovascular invasion (X2 = 0.5, p = 0.5) and ECOG score of ≥ 1 (X2 = 2.1, p = 0.3) was not associated with OS.

Conclusions
OS of CPA patients with advanced HCC and performance status of 0 was 21.8 months following Y90. CP A cirrhosis is the best predictor of prolonged OS in advanced (BCLC-C) HCC.
CT and MRI findings of intra-parenchymal and intra-ventricular schwannoma: a series of seven cases
Authors: Zhang Zhen-yi , Mo Zhi-qing , Zhang You-ming , Yang Hong , Yao Bin , Ding Hao 
Published: November 2022

Abstract
Objective
To analyze the computed tomography (CT) and magnetic resonance imaging (MRI) features of patients with intra-parenchymal and intra-ventricular schwannoma.

Methods
The CT and MRI features of seven cases with intra-parenchymal and intra-ventricular schwannoma were analyzed retrospectively.

Results
There were four men and three women (median age, 25 years; range, 12–42 years) in this study. The median tumor size was 4.4 cm (range, 3.1–6.5 cm). The mass was, respectively, round in four cases (57.1%), lobulated in two cases (28.6%) and oval in one case (14.3%). All tumors were well-circumscribed. Septa in the mass could be observed in three cases (42.9%), and nodular calcification was observed in two cases (28.6%), which peritumoral edema (n = 3, 42.9%) and hydrocephalus (n = 3, 42.9%) could be observed. Most of these lesions (n = 6) presented iso-hypointensity on T1-weighted images and iso-hyperintensity on T2-weighted images, except one lesion showing low intensity on T2WI. In addition, a fluid–fluid level was observed in one case. After contrast agents’ injection, all masses illustrated heterogeneously moderate to marked enhancement.

Conclusions
A well-defined solid and cystic mass with calcification and moderate to marked delayed enhancement may be an objective account of intra-parenchymal or intra-ventricular schwannoma.
A multidisciplinary case report of multiple myeloma with renal and cardiac involvement: a look beyond amyloidosis
Authors: Innocenti Samantha , Bacchi Beatrice , Allinovi Marco , Perfetto Federico , Antonioli Elisabetta , Marchionni Niccolo’ , Di Mario Carlo , Caroti Leonardo , Cappelli Francesco , Stefàno Pierluigi 
Published: November 2022

Abstract
Background
Multiple myeloma (MM) is a malignant neoplasm associated with kidney involvement in nearly half of the patients. Cast nephropathy, monoclonal immunoglobulin deposition disease (MIDD), and light chain (AL) amyloidosis are the most common monoclonal immunoglobulin-mediated causes of renal injury.
Cardiac involvement is also present in MM, characterized by restrictive cardiomyopathy generated by light chain deposit or amyloid. Thromboembolic complications such as deep vein thrombosis or pulmonary embolism are also described.

Case presentation
We present an unusual multidisciplinary case of a woman with a newly diagnosed MM associated with severe proteinuria and high natriuretic peptide. A renal and fat pad biopsy with Congo red staining were performed but amyloid deposition was not discovered. While immunofluorescence on fresh frozen unfixed tissue was not contributory, the immunofluorescence on fixed tissue and electron microscopy revealed the correct diagnosis.
During subsequent investigations, two intracardiac right-sided masses and massive pulmonary embolism were also detected.

Conclusions
This case highlights that multiple organ involvement in patients with MM may result from a combination of paraprotein-dependent and -independent factors. Moreover, renal diseases induced by monoclonal gammopathies are a group of complex and heterogeneous disorders. Their subtle presentation and their potential multiorgan involvement require the expertise of a multidisciplinary team able to provide the most appropriate diagnostic and therapeutic assessment.
SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report
Authors: Li Meiying , Fu Qin , Xiang Liangxu , Zheng Yingwei , Ping Wenjing , Cao Yongjun 
Published: November 2022

Abstract
Background
Idiopathic basal ganglia calcification (IBGC) is a genetic disorder of the nervous system commonly known as Fahr disease. IBGC patients with a genetic background are considered to have primary familial brain calcification (PFBC), also known as familial basal ganglia calcification (FBGC), or familial Fahr disease. It is a rare degenerative neurological disorder characterized by extensive bilateral basal ganglia calcification that can lead to a range of extrapyramidal symptoms and neuropsychiatric manifestations. Studies have suggested that more than 50 variants of SLC20A2 gene mutations account for approximately 50% of IBGC cases. There is a wide spectrum of mutation types, including frameshift, nonsense, and splice site mutations in addition to deletion and missense mutations. Here we report a case of familial basal ganglia calcification caused by a frameshift mutation in the SLC20A2 gene. We identified a heterozygous mutation in the SLC20A2 gene, c.1097delG (p.G366fs*89). To our knowledge, this mutation site has not been reported before.

Case presentation
A 57-year-old male patient was admitted to the hospital with “unstable walking and involuntary movements between the eyes and eyebrows for 6 months”. Based on the patient’s family history, symmetrical calcification foci in the bilateral caudate nucleus head, thalamus, cerebellum and parietal lobe indicated by head CT, and gene test results, the diagnosis of familial Fahr disease caused by mutations in the SLC20A2 gene, c.1097delG p.G366fs*89) was confirmed.

Conclusion
For the first time, we identified c.1097delG (p.G366fs*89) as a frameshift mutation in the IBGC family. This frameshift mutation caused the condition in this family of patients. This mutation not only broadens the range of known SLC20A2 mutations but also aids in the genetic diagnosis of IBGC.
Maternal infections during pregnancy and child cognitive outcomes
Authors: Kwok Janell , Hall Hildigunnur Anna , Murray Aja Louise , Lombardo Michael Vincent , Auyeung Bonnie 
Published: November 2022

Abstract
Background
Maternal prenatal infections have been linked to children’s neurodevelopment and cognitive outcomes. It remains unclear, however, whether infections occurring during specific vulnerable gestational periods can affect children’s cognitive outcomes. The study aimed to examine maternal infections in each trimester of pregnancy and associations with children’s developmental and intelligence quotients. The ALSPAC birth cohort was used to investigate associations between maternal infections in pregnancy and child cognitive outcomes.

Methods
Infection data from mothers and cognition data from children were included with the final study sample size comprising 7,410 mother-child participants. Regression analysis was used to examine links between maternal infections occurring at each trimester of pregnancy and children’s cognition at 18 months, 4 years, and 8 years.

Results
Infections in the third trimester were significantly associated with decreased verbal IQ at age 4 (p < .05, adjusted R2 = 0.004); decreased verbal IQ (p < .01, adjusted R2 = 0.001), performance IQ (p < .01, adjusted R2 = 0.0008), and total IQ at age 8 (p < .01, adjusted R2 = 0.001).

Conclusion
Results suggest that maternal infections in the third trimester could have a latent effect on cognitive development, only emerging when cognitive load increases over time, though magnitude of effect appears to be small. Performance IQ may be more vulnerable to trimester-specific exposure to maternal infection as compared to verbal IQ. Future research could include examining potential mediating mechanisms on childhood cognition, such as possible moderating effects of early childhood environmental factors, and if effects persist in future cognitive outcomes.
CX3CL1 promotes cell sensitivity to ferroptosis and is associated with the tumor microenvironment in clear cell renal cell carcinoma
Authors: Gong Qiming , Guo Zhiting , Sun Wenjuan , Du Xiuri , Jiang Yan , Liu Fahui 
Published: November 2022

Abstract
Background
An increasing number of studies have demonstrated that CX3CL1 is involved in the development of tumors and may thus be considered a new potential therapeutic target for them. However, the function of CX3CL1 in clear cell renal cell carcinoma (ccRCC) remains poorly defined.

Methods
The pan-cancer expression pattern and prognostic value of CX3CL1 were evaluated in this study. Moreover, the relationship of CX3CL1 expression with the tumor microenvironment, especially the tumor immune microenvironment, was analyzed. Our analyses employed public repository data. Additionally, we generated stable CX3CL1-overexpressing 786-O cells to determine the role of CX3CL1 in vitro via cell viability and transwell assays. A xenograft tumor model was used to determine the role of CX3CL1 in vivo. The association between CX3CL1 and ferroptosis sensitivity of tumor cells was assessed using Ferrostatin-1.

Results
Our findings indicated the involvement of CX3CL1 in the occurrence and development of ccRCC by acting as a tumor suppressor. We also found that ccRCC patients with high CX3CL1 expression showed better clinical outcomes than those with low CX3CL1 expression. The findings of our epigenetic study suggested that the expression of CX3CL1 in ccRCC is correlated with its DNA methylation level. Furthermore, the CX3CL1 expression level was closely related to the infiltration level of CD8+ T cells into the tumor microenvironment (TME). CX3CL1 showed different predictive values in different immunotherapy cohorts. Finally, CX3CL1 overexpression inhibited tumor cell proliferation and metastasis and promoted tumor ferroptosis sensitivity in ccRCC.

Conclusions
This study revealed the role of CX3CL1 as a tumor suppressor in ccRCC. Our findings indicated that CX3CL1 plays a crucial role in regulating the ccRCC TME and is a potential predictor of immunotherapy outcomes in ccRCC. We also found that CX3CL1 can promote ferroptosis sensitivity in ccRCC cells.
Economic costs and Predictors of occupation-related Injuries in Ethiopian sugar industries from the Employer’s perspective: top-down approach and friction method
Authors: Debela Mitiku Bonsa , Azage Muluken , Deyessa Negussie , Begosaw Achenef Motbainor 
Published: November 2022

Abstract
Background
For many industrial workers, occupational injuries are a common health and safety concern. However, sufficient information on the economic costs and predictors of occupation-related injuries from the perspective of employers is lacking in developing countries, including Ethiopia. The objective of this study was to close this gap by quantifying the economic costs and predictors of occupation-related injuries in Ethiopian manufacturing industries from the employer’s perspective.

Methods
A cross-sectional study was employed to estimate the employer-side economic cost of occupation-related injuries from December 2021 to March 2022. This study used a top-down approach to compute direct costs, while the friction method was used for indirect cost estimation. Injury data were obtained from the Bureau of Labour and Social Affairs and the industries, while cost data were from workers’ compensation records. The insurance company’s injury compensation record was triangulated with industries’ data. The study collected primary data via an interview-administered, semi-structured questionnaire from 1136 randomly selected injured cases. Statistical analysis was carried out with STATA version 14 software. The study employed a generalized linear model to identify predictors of total cost by considering the non-normal distribution of the total cost. Exponentiate coefficients with a 95% confidence interval were used to express the direction and strength of the association.

Results
The survey participation rate was 100%. From the perspective of the employers, the total cost of occupation–related injury was 22,587,635.32 Ethiopian birr (537,800.84 $).Indirect and direct costs accounted for 65.86 and 34.14% of the overall expenses, respectively. Long-term absence from work (exp (b) = 0.85), having a sleeping disorder (exp (b) = 0.90), co-morbidity (exp (b) = 0.85), and severity (type) of injury (exp (b) = 1.11) were predictors significantly associated with the total cost variability in the fully adjusted model.

Conclusions
Employers’ toll of occupation-related injuries has severe economic implications. The influential factors that elevated the total cost variation were: long-term absence from work, unsafe acts of the workers, having a sleeping disorder, co-morbidity, and severity (type) of injury. Therefore, the identified modifiable factors are the areas of intervention to reduce the cost of occupation-related injuries.
Dam-mediated flooding impact on outpatient attendance and diarrhoea cases in northern Ghana: a mixed methods study
Authors: Dotse-Gborgbortsi Winfred , Dwomoh Duah , Asamoah Moses , Gyimah Faustina Twumwaa , Dzodzomenyo Mawuli , Li Chengxiu , Akowuah George , Ofosu Anthony , Wright Jim 
Published: November 2022

Abstract
Background
Floods are the most frequently occurring natural disaster and constitute a significant public health risk. Several operational satellite-based flood detection systems quantify flooding extent, but it is unclear how far the choice of satellite-based flood product affects the findings of epidemiological studies of associated public health risks. Few studies of flooding’s health impacts have used mixed methods to enrich understanding of these impacts. This study therefore aims to evaluate the relationship between two satellite-derived flood products with outpatient attendance and diarrhoeal disease in northern Ghana, identifying plausible reasons for observed relationships via qualitative interviews.

Methods
A convergent parallel mixed methods design combined an ecological time series with focus group discussions and key informant interviews. Through an ecological time series component, monthly outpatient attendance and diarrhoea case counts from health facilities in two flood-prone districts for 2016–2020 were integrated with monthly flooding map layers classified via the Moderate Resolution Imaging Spectroradiometer (MODIS) and Landsat satellite sensors. The relationship between reported diarrhoea and outpatient attendance with flooding was examined using Poisson regression, controlling for seasonality and facility catchment population. Four focus group discussions with affected community members and four key informant interviews with health professionals explored flooding’s impact on healthcare delivery and access.

Results
Flooding detected via Landsat better predicted outpatient attendance and diarrhoea than flooding via MODIS. Outpatient attendance significantly reduced as LandSat-derived flood area per facility catchment increased (adjusted Incidence Rate Ratio = 0.78, 95% CI: 0.61–0.99, p < 0.05), whilst reported diarrhoea significantly increased with flood area per facility catchment (adjusted Incidence Rate Ratio = 4.27, 95% CI: 2.74—6.63, p < 0.001). Key informants noted how flooding affected access to health services as patients and health professionals could not reach the health facility and emergency referrals were unable to travel.

Conclusions
The significant reduction in outpatient attendance during flooding suggests that flooding impairs healthcare delivery. The relationship is sensitive to the choice of satellite-derived flood product, so future studies should consider integrating multiple sources of satellite imagery for more robust exposure assessment. Health teams and communities should plan spatially targeted flood mitigation and health system adaptation strategies that explicitly address population and workforce mobility issues.
Tracheobronchopathia osteochondroplastica: clinical, bronchoscopic, and comorbid features in a case series
Authors: Dumazet Antoine , Launois Claire , Lebargy Francois , Kessler Romain , Vallerand Hervé , Schmitt Pierre , Hermant Christophe , Dury Sandra , Dewolf Maxime , Dutilh Julien , Abouda Maher , Ferreira Marion , Atallah Ihab , Lachkar Samy , Charriot Jérémy , Jouneau Stéphane , Uzunhan Yurdagul , Chouabe Stéphane , Coiffard Benjamin , Dutau Hervé , Hagenburg Jean , Briault Amandine , Dormoy Valérian , Lirsac Marion , Vergnon Jean-Michel , Deslee Gaetan , Perotin Jeanne-Marie 
Published: November 2022

Abstract
Background
Tracheobronchopathia osteochondroplastica (TO) is a rare condition of unknown etiology. TO is characterized by submucosal nodules, with or without calcifications, protruding in the anterolateral walls of the trachea and proximal bronchi. The objective of this study was to describe TO features and associated comorbidities in a series of patients.

Methods
Patients suffering from TO were retrospectively included by investigators from the Groupe d’Endoscopie Thoracique et Interventionnelle Francophone (GETIF). Demographic, clinical, comorbidities, bronchoscopic, functional, and radiological characteristics, and outcomes were recorded and analyzed.

Results
Thirty-six patients were included (69% male with a mean of 65 ± 12 years). Chronic symptoms were described by 81% of patients including cough (74%) and dyspnea on exertion (74%). TO was associated with COPD in 19% of the cases and gastroesophageal reflux disease in 6%. A mild to severe airflow obstruction was present in 55% of the cases. CT scan showed tracheal submucosal nodules in 93% of patients and tracheal stenosis in 17%. Bronchoscopy identified TO lesions in the trachea in 65% of the cases, and 66% of them were scattered. A bronchoscopic reevaluation was performed in 7 cases, 9 ± 14 months [1–56] after initial diagnosis, and showed the stability of lesions in all cases. Three patients underwent interventional bronchoscopic treatment.

Conclusion
The diagnosis of TO relies on typical bronchoscopic findings and can be evoked on a CT scan. Histologic diagnosis can be useful in atypical cases for differential diagnosis. Given its low consequences in terms of symptoms, lung functions, and evolution, no treatment is usually required.