bluuebunny/crossref_metadata_2025_split huggingface dataset:
Erbin accelerates TFEB-mediated lysosome biogenesis and autophagy and alleviates sepsis-induced inflammatory responses and organ injuries
Authors: Fang Qing , Jing Guoqing , Zhang Ying , Wang Hongyu , Luo Huan , Xia Yun , Jin Qiyan , Liu Yuping , Zuo Jing , Yang Cheng , Zhang Xiaodong , Liu Shi , Wu Xiaojing , Song Xuemin 
Published: December 2023

AbstractMounting attention has been focused on defects of the autophagy-lysosomal pathway in sepsis, however, the precise mechanisms governing the autophagy-lysosomal process in sepsis are poorly known. We have previously reported that Erbin deficiency aggravated the inflammatory response and organ injuries caused by sepsis. In the present study, we found that Erbin knockout impaired the autophagy process in both muramyl dipeptide (MDP)-induced bone marrow-derived macrophages (BMDMs) and sepsis mouse liver and lung, as detected by the accumulation of LC3-II and SQSTM1/p62, and autophagosomes. Pretreatment with autophagy inhibitor chloroquine (CQ) further aggravated inflammatory response and organ injuries in vivo and in vitro sepsis model. We also observed that the impaired lysosomal function mediated autophagic blockade, as detected by the decreased expression of ATP6V, cathepsin B (CTSB) and LAMP2 protein. Immunoprecipitation revealed that the C-terminal of Erbin (aa 391–964) interacts with the N-terminal of transcription factor EB (TFEB) (aa 1–247), and affects the stability of TFEB-14-3-3 and TFEB-PPP3CB complexes and the phosphorylation status of TFEB, thereby promote the nucleus translocation of TFEB and the TFEB target genes transcription. Thus, our study suggested that Erbin alleviated sepsis-induced inflammatory responses and organ injuries by rescuing dysfunction of the autophagy-lysosomal pathway through TFEB-14-3-3 and TFEB-PPP3CB pathway.
Towards telehealth delivery in pediatric rheumatology practice
Authors: Khubchandani Raju , Avčin Tadej , Ravelli Angelo 
Published: December 2023

Abstract
Introduction
Much has been written and spoken about telemedicine since about two decades including an article in this journal at the start of the pandemic. It took a global catastrophe to enforce its usage across the world in various medical specialties. Telemedicine however remains unstructured, unregulated and lacks uniformity.

Discussion
This article highlights the practical learnings and opinions of the authors who provided over two thousand video consults and asynchronous telemedicine services through the entire pandemic. It includes lessons learnt from emerging economies where pediatric rheumatologists are scarce. Pediatric rheumatology, which relies heavily on history, musculoskeletal and skin examination is aptly suited to exploit telemedicine in its synchronous and asynchronous forms. Pediatric tele rheumatology could temporarily address the shortage and uneven distribution of specialists in vast parts of the globe, besides serving as a method of triage and shared care with the primary physician. Reduction of direct and indirect costs and family/primary physician education are additional benefits. There also exist challenges for all stakeholders and it is important to address the latter.

Conclusion
The learnings of the pandemic suggest a vital role for telemedicine in the practice of pediatric rheumatology. This is a fertile area for research and consensus building by international and national pediatric societies and issue position statements like some adult bodies already have. The authors speculate a hybrid system of care in the not-so-distant future.
East meets west: using ethnobotany in ethnic urban markets of Barcelona metropolitan area (Catalonia) as a tool for biocultural exchange
Authors: D’Ambrosio Ugo , Pozo Cristina , Vallès Joan , Gras Airy 
Published: December 2023

Abstract
Background
Ethnobotanical studies in metropolitan areas and urban ethnic markets have grown considerably in recent years as large cities have demonstrated to be significantly rich in biocultural diversity and in driving its evolution, as human populations migrate from one region to another. Urban spaces also represent important places of rich multicultural and multilingual interaction and exchange, where ethnobotany can act as a bridge between research and action. The purpose of this study is to present a case study on how to use ethnobotany in multicultural urban settings by studying people-plant interactions and the larger implications and applications to promote biocultural learning in these areas.

Methods
We inventoried the botanical composition of fresh and dry products sold in most food stores owned by Chinese immigrants in Fondo, a neighbourhood of Barcelona’s metropolitan area, in Santa Coloma de Gramenet municipality (Barcelonès county, Catalonia, Iberian Peninsula), pharmacologically validating the obtained list with the Chinese Pharmacopoeia. We also participated in multiple dissemination activities and materials (non-academic and academic), along with exchanges with the broader community in relation to this research.

Results
In total, 103 plants were identified at the species level, pertaining to 88 genera and 46 botanical families. Including the infraspecific level, a total of 113 plant taxa were inventoried. One algal and six fungal species were also recorded, but not included in the analyses. Brassicaceae (12.4%) and Fabaceae (10.6%) were the most predominant families inventoried, followed by Cucurbitaceae (7.1%) and Poaceae (7.1%). Over three-quarters of all the taxa have an Asian origin (76.11%), indicating a high conservation of the use of Asian taxa. Over one-third (36.89%) of the plant parts pertain to species contained in the Chinese Pharmacopoeia, showing the relevance of medicinal plants in local stores and the preponderance of Eastern Asian food-medicine continuums. To promote ethnobotanical education programmes, over 50 dissemination activities and educational materials were produced from this study and shared with the local urban community in different fora.

Conclusions
Further research in these and similar settings can provide significant ethnographic information to better understand anthropological processes and phenomena underlying migration and transculturation that can be used in an umbrella of applications, from adequate nomenclature and labelling of foreign products in local languages to multicultural integration and social cohesion programmes along with educational activities on biocultural topics.
Direct letters to relatives at risk of hereditary cancer—study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study)
Authors: Hawranek Carolina , Ehrencrona Hans , Öfverholm Anna , Hellquist Barbro Numan , Rosén Anna 
Published: December 2023

Abstract
Background
The results of germline genetic testing for hereditary cancer are of importance not only to the patients under investigation but also to their genetic at-risk relatives. Standard care is to encourage the proband (first family member under investigation) to pass on this risk information to the relatives. Previous research suggests that with family-mediated disclosure, only about a third of at-risk relatives contact health care to receive genetic counselling. In some studies, complementing family-mediated risk disclosure with healthcare-assisted risk disclosure almost doubles the uptake of genetic counselling in at-risk relatives. In this study, we evaluate healthcare-assisted direct letters to relatives at risk of hereditary cancer syndromes in a randomized controlled trial.

Methods
Probands are recruited from Swedish outpatient cancer genetics clinics to this two-arm randomized controlled trial. The study recruits probands with either a pathogenic variant in a cancer susceptibility gene (BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2) or probands with familial breast and colorectal cancer based on clinical and pedigree criteria. In both arms, probands receive standard care, i.e., are encouraged and supported to pass on information to relatives. In the intervention arm, the proband is also offered to have direct letters sent to the at-risk relatives. The primary outcome measure is the proportion of at-risk relatives contacting a Swedish cancer genetics clinic within 12 months of the proband receiving the test results.

Discussion
This paper describes the protocol of a randomized controlled clinical trial evaluating a healthcare-assisted approach to risk disclosure by offering the probands to send direct letters to their at-risk relatives. The results of this study should be informative in the future development of risk disclosure practices in cancer genetics clinics.

Trial registration
ClinicalTrials.gov. Identifier NCT04197856 (pre-trial registration on December 13, 2019).

Also registered at the website “RCC Cancerstudier i Sverige” as study #86719.
Sclerosing epithelioid fibrosarcoma associated with WRN gene variant presenting as chronic dyspnea and pathologic cervical fracture: a case report and review of the literature
Authors: Phan Alexander T. , Ghantarchyan Henrik , Khosravi Chayanne , Maknouni Bahareh , Bhagat Ankur , Chen Jeff , Ibrahim Ahmad , Hasan Mufadda 
Published: December 2023

Abstract
Background
Sclerosing epithelioid fibrosarcoma is an aggressive sarcoma subtype with poor prognosis and limited response to conventional chemotherapy regimens. Diagnosis can be difficult owing to its variable presentation, and cases of sclerosing epithelioid fibrosarcoma are rare. Sclerosing epithelioid fibrosarcoma typically affects middle-aged individuals, with studies inconsistently citing gender predominance. Sclerosing epithelioid fibrosarcoma typically arises from the bones and soft tissues and often has local recurrence after resection and late metastases. Immunohistochemical staining typically is positive for mucin-4. Werner syndrome is due to an autosomal recessive mutation in the WRN gene and predisposes patients to malignancy.

Case presentation
A 37-year-old Caucasian female presented to the emergency department with 4 months of dyspnea and back pain. She had been treated for pneumonia but had persistent symptoms. A chest, abdomen, and pelvis computed tomography showed near-complete right upper lobe collapse and consolidation, mediastinal lymphadenopathy, lytic spinal lesions, and a single 15-mm hypodense liver nodule. The patient underwent a transthoracic right upper lobe biopsy, bronchoscopy, endobronchial ultrasound with transbronchial lymph node sampling, and bronchoalveolar lavage of the right upper lobe. The bronchoalveolar lavage cytology was positive for malignant cells compatible with poorly differentiated non-small cell carcinoma; however, the cell block materials were insufficient to run immunostains for further investigation of the bronchoalveolar lavage results. Consequently, the patient also underwent a liver biopsy of the liver nodule, which later confirmed a diagnosis of sclerosing epithelioid fibrosarcoma. Next-generation sequencing revealed a variant of unknown significance in the WRN gene. She was subsequently started on doxorubicin.

Conclusion
Sclerosing epithelioid fibrosarcoma is a very rare entity, only cited approximately 100 times in literature to date. Physicians should be aware of this disease entity and consider it in their differential diagnosis. Though pulmonary involvement has been described in the context of sclerosing epithelioid fibrosarcoma, this malignancy may affect many organ systems, warranting extensive investigation. Through our diagnostic workup, we suggest a possible link between sclerosing epithelioid fibrosarcoma and the WRN gene. Further study is needed to advance our understanding of sclerosing epithelioid fibrosarcoma and its clinical associations as it is an exceedingly rare diagnosis.
Primary malignant melanoma, an atypical presentation in the cervical spine: a case report
Authors: Kamabu Larrey Kasereka , Kataka Louange Maha , Vivalya Bives Mutume Nzanzu , Sikakulya Franck Katembo , Lekuya Hervé Monka , Galukande Moses 
Published: December 2023

Abstract
Background
Few studies have documented the occurrence of melanoma in the cervical spine. Of all malignant melanoma cases, 1% are primary melanoma of the central nervous system, which makes it extremely uncommon and nonspecific. We aim to report a case of the uncommon presentation of primary melanoma in the cervical spine.

Case presentation
The patient was a 59-year-old Muganda male who presented with a 2-year history of anterior neck swelling as well as severe pain and a tingling sensation in the left shoulder and arm, which worsened in the recent 6 months. He developed weakness and paresthesia in the upper left arm and progressive gait disturbance of the left leg. A physical examination revealed masses in the left cervical and right submandibular region. Additionally, the upper and lower left extremities revealed hemiparesis and hemihypoesthesia. A magnetic resonance imaging scan showed a hyperintense lesion on TIWI and another hypointense lesion on T2WI, originating from the cervical spine and involving the vertebral bodies and paravertebral soft tissues. The patient underwent surgery, a black tumor was extracted, and histology revealed the tumor to be malignant melanoma. The patient died within 1 month after the diagnosis and surgery.

Conclusion
This case is presented to highlight the significance and challenges associated with making a pre- and postoperative diagnosis of primary cervical melanoma with atypical radiological characteristics. Patients with extradural lesions that show hyperintensity on T1-weighted images and hypointensity on T2-weighted images should have spinal melanoma examined as a possible differential diagnosis.
T1 and T2 mapping for identifying malignant lymph nodes in head and neck squamous cell carcinoma
Authors: Qu Jiangming , Pan Boju , Su Tong , Chen Yu , Zhang Tao , Chen Xingming , Zhu Xiaoli , Xu Zhentan , Wang Tianjiao , Zhu Jinxia , Zhang Zhuhua , Feng Feng , Jin Zhengyu 
Published: December 2023

Abstract
Background
This study seeks to assess the utility of T1 and T2 mapping in distinguishing metastatic lymph nodes from reactive lymphadenopathy in patients with head and neck squamous cell carcinoma (HNSCC), using diffusion-weighted imaging (DWI) as a comparison.

Methods
Between July 2017 and November 2019, 46 HNSCC patients underwent neck MRI inclusive of T1 and T2 mapping and DWI. Quantitative measurements derived from preoperative T1 and T2 mapping and DWI of metastatic and non-metastatic lymph nodes were compared using independent samples t-test or Mann–Whitney U test. Receiver operating characteristic curves and the DeLong test were employed to determine the most effective diagnostic methodology.

Results
We examined a total of 122 lymph nodes, 45 (36.9%) of which were metastatic proven by pathology. Mean T2 values for metastatic lymph nodes were significantly lower than those for benign lymph nodes (p < 0.001). Conversely, metastatic lymph nodes exhibited significantly higher apparent diffusion coefficient (ADC) and standard deviation of T1 values (T1SD) (p < 0.001). T2 generated a significantly higher area under the curve (AUC) of 0.890 (0.826–0.954) compared to T1SD (0.711 [0.613–0.809]) and ADC (0.660 [0.562–0.758]) (p = 0.007 and p < 0.001). Combining T2, T1SD, ADC, and lymph node size achieved an AUC of 0.929 (0.875–0.983), which did not significantly enhance diagnostic performance over using T2 alone (p = 0.089).

Conclusions
The application of T1 and T2 mapping is feasible in differentiating metastatic from non-metastatic lymph nodes in HNSCC and can improve diagnostic efficacy compared to DWI.
Using PROMIS-29 to determine symptom burdens in the context of the Type 1 and 2 systemic lupus erythematosus (SLE) model: a cross sectional study
Authors: Sun Kai , Eudy Amanda M. , Harris Nathaniel , Pisetsky David S. , Criscione-Schreiber Lisa G. , Sadun Rebecca E. , Doss Jayanth , Clowse Megan E. B. , Rogers Jennifer L. 
Published: December 2023

Abstract
Objective
To account for heterogeneity in systemic lupus erythematosus (SLE) and bridge discrepancies between patient- and physician-perceived SLE activity, we developed the Type 1 and 2 SLE model. We examined PROMIS-29 scores, a composite patient-reported outcome (PRO) measure, through the lens of the model.

Methods
Patients completed PROMIS-29 and the polysymptomatic distress scale (PSD). Rheumatologists completed the SLE disease activity index (SLEDAI), and physician’s global assessments (PGAs) for Type 1 and 2 SLE. We defined Type 1 SLE using SLEDAI, Type 1 PGA, and active nephritis, and Type 2 SLE using PSD and Type 2 PGA. We compared PROMIS-29 T-scores among Type 1 and 2 SLE groups and explored whether PROMIS-29 can predict Type 1 and 2 SLE activity.

Results
Compared to the general population, patients with isolated Type 1 SLE reported greater pain and physical dysfunction but less depression and improved social functions; patients with high Type 2 SLE (irrespective of Type 1 activity) reported high levels of pain, fatigue, and social and physical limitations. Patients with minimal Type 1 and 2 SLE had less depression and greater physical functioning with other domains similar to national norms. PROMIS-29 predicted Type 2 but not Type 1 SLE activity.

Conclusion
PROMIS-29 similarities in patients with high Type 2 SLE, with and without active Type 1 SLE, demonstrate the challenges of using PROs to assess SLE inflammation. In conjunction with the Type 1 and 2 SLE model, however, PROMIS-29 identified distinct symptom patterns, suggesting that the model may help clinicians interpret PROs.
Endograft position and endoleak detection after endovascular abdominal aortic repair with low-field tiltable MRI: a feasibility study
Authors: van Zandwijk Jordy K. , Schuurmann Richte C. L. , Haken Bennie ten , Stassen Chrit M. , Geelkerken Robert H. , de Vries Jean-Paul P. M. , Simonis Frank F. J. 
Published: December 2023

Abstract
Background
Abdominal aortic endoleaks after endovascular aneurysm repair might be position-dependent, therefore undetectable using supine imaging. We aimed to determine the feasibility and benefit of using a low-field tiltable magnetic resonance imaging (MRI) scanner allowing to study patients who can be imaged in both supine and upright positions of endoleaks.

Methods
Ten EVAR patients suspected of endoleak based on ultrasound examination were prospectively included. MRI in upright and supine positions was compared with routine supine computed tomography angiography (CTA). Analysis was performed through (1) subjective image quality assessment by three observers, (2) landmark registration between MRI and CTA scans, (3) Euclidean distances between renal and endograft landmarks, and (4) evaluation of endoleak detection on MRI by a consensus panel. Statistical analysis was performed by one-way repeated measures analysis of variance.

Results
The image quality of upright/supine MRI was inferior compared to CTA. Median differences in both renal and endograft landmarks were approximately 6–7 mm between upright and supine MRI and 5–6 mm between supine MRI and CTA. In the proximal sealing zone of the endograft, no differences were found among all three scan types (p = 0.264). Endoleak detection showed agreement between MRI and CTA in 50% of the cases, with potential added value in only one patient.

Conclusions
The benefit of low-field upright MRI for endoleak detection was limited. While MRI assessment was non-inferior to standard CTA in detecting endoleaks in selected cases, improved hardware and sequences are needed to explore the potential of upright MRI in patients with endoleaks.

Relevance statement
Upright low-field MRI has limited clinical value in detecting position-dependent endoleaks; improvements are required to fulfil its potential as a complementary modality in this clinical setting.

Key points
• Upright MRI shows potential for imaging endoleaks in aortic aneurysm patients in different positions.
• The image quality of upright MRI is inferior to current techniques.
• Upright MRI complements CTA, but lacks accurate deformation measurements for clinical use.
• Advancements in hardware and imaging sequences are needed to fully utilise upright MRI capabilities.

Graphical Abstract
Outcome of endovascular stroke therapy in a large mandatory stroke-registry
Authors: Hyrenbach Sonja , Rode Susanne , Schabet Martin , Daffertshofer Michael , Schoser Karin , Neumaier Stephan , Ringleb Peter A. 
Published: December 2023

Abstract
Background
Endovascular stroke treatment (EST) has become the standard treatment for patients with stroke due to large vessel occlusion, especially in earlier time windows. Only few data from population-based registries on effectiveness of EST have been published.

Methods
Baden–Wuerttemberg is the third largest state in Germany in terms of area and population and has a structured stroke concept since 1998 which includes mandatory collection of quality assurance data. In 2018 and 2019, 3820 of 39,168 ischemic stroke patients (9.8%) were treated by EST (age median 78 y, NIHSS median 14). We analyzed the clinical outcome of these patients determined with the modified Rankin Scale (mRS) at discharge from the hospital or with the initiation of palliative therapy using logistic regression analysis with adjustment for the mRS at admission, additive IVT, age, and NIHSS.

Results
The probability of an excellent clinical outcome (mRS 0 or 1 at discharge) and for a good clinical outcome (mRS 0–2) were significantly higher in EST-patients (odds-ratio (OR) 1.27; 95% confidence interval (95% CI) 1.13–1.43, and OR of 1.15 (95% CI 1.04–1.28). Also, the regression model showed an advantage for EST-patients with less frequent ‘decision for palliative care’ (OR 0.87; 95% CI 0.78–0.98). Sensitivity analysis adjusting for intracranial vessel occlusion as further factor showed similar results.

Conclusion
Our data suggest that EST can be of benefit also for an area-wide unselected stroke population, in a large German federal state with sometimes long distance to the next thrombectomy center.
Evaluation of the expression of the long non-coding RNAs, LOWEG and MINCR, and their clinical significance in human gastric cancer
Authors: Ghasemzadeh Tooraj , Rajabi Ali , MalekAbbaslou Elaheh , Najari Parisa , Akbarzadeh Sama , Tayefeh-Gholami Samaneh , Teimourian Shahram , Hosseinpourfeizi MohammadAli , Safaralizadeh Reza 
Published: December 2023

Abstract
Background
Gastric cancer (GC) is currently the fifth most common malignancy. Accumulating evidence has recently revealed that maladjustments of diverse long non-coding RNAs may play key roles in multiple genetic and epigenetic phenomena in GC. Long non-coding RNAs (lncRNAs), which are transcriptional products with more than 200 nucleotides, are a subset of non-coding RNAs. LncRNA LOWEG and lncRNA MINCR, as novel lncRNAs, may have roles in GC progression.

Objective
This study aimed to examine the clinical and diagnostic significance of lncRNA LOWEG and lncRNA MINCR in GC.

Methods
The qRT-PCR technique measured lncRNA LOWEG and lncRNA MINCR expression in GC tissues and matched adjacent marginal tissues. The association between clinicopathological parameters and the expression level of lncRNAs was evaluated. Furthermore, The ROC curve was plotted to assess the diagnostic power of lncRNA LOWEG and lncRNA MINCR as candidate biomarkers in gastric cancer patients.

Results
We found that lncRNA LOWEG expression was downregulated in cancerous tissues compared to the adjacent marginal tissues (P-value < 0.0001). LncRNA MINCR expression was upregulated in cancerous tissues compared to adjacent marginal tissues (P-value < 0.0001). Downregulation of lncRNA LOWER and upregulation of lncRNA MINCR did not significantly correlate with clinicopathological parameters. ROC curve analysis showed that lncRNA LOWEG and lncRNA MINCR could be proposed as reliable diagnostic biomarkers in GC.

Conclusion
The expression of the lncRNA LOWEG was reduced in tumoral tissues compared to the adjacent marginal tissues, and the expression of lncRNA MINCR increased in tumoral tissues. So, as a result, lncRNAs LOWEG and MINCR could be considered diagnostic biomarkers for GC.