Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 99
Filter
1.
Article in English | MEDLINE | ID: mdl-39122471

ABSTRACT

BACKGROUND AND PURPOSE: Contrast-enhanced MRI (CEMRI) is a commonly used imaging modality for craniopharyngioma surveillance; however, it carries risks such as allergic reaction and gadolinium deposition. This study evaluates the efficacy of non-contrast enhanced MRI (NCMRI) with a balanced steady state free precession (bSSFP) sequence compared with CEMRI T1-weighted imaging for craniopharyngioma surveillance. MATERIALS AND METHODS: 29 craniopharyngioma patients (16 female/13 male, mean age=21.5± 4.3 years) with CEMRIs including a bSSFP sequence were evaluated. For each patient, 2 blinded neuroradiologists compared the dimensions of residual craniopharyngioma on noncontrast and contrast-enhanced sequences. Tumor volume and solid/cystic component measurements were evaluated using paired t-tests. Diagnostic confidence levels for NC-and CE evaluations were measured using a 3-point scale (2=confident,1=adequate,0=unsure). Analyses of tumor involvement of cranial nerves and adjacent vasculature and diagnostic confidence were performed using Fisher's exact and chi-square tests. RESULTS: No significant difference was observed between residual tumor volumes in both studies (18.86±21.67 cm3 vs 17.64±23.85 cm3, p=0.55) and measurements of dominant solid component volume, number of cystic components, and largest cystic component volume (2.71±3.47 cm3 vs 3.95±5.51 cm3, p=0.10; 2.5±1.5 vs 2.9±1.5, p=0.10; 7.61±13.41 vs 6.84±13.37 cm3, p=0.22, respectively). Tumoral involvement of cranial nerves II (p=0.64), III (p=0.42), and adjacent vasculature (p=0.05) showed no significant differences in detection. Diagnostic confidence was comparable evaluating cranial nerve II, vascular structures, and third ventricle (p>0.05) involvement. Higher levels of confidence were observed with bSSFP sequences for detection of cranial nerve III involvement (p=0.0001) and with ce-T1W for cavernous sinus involvement (p=0.02). CONCLUSIONS: NCMRI techniques using a bSSFP sequence provides similar characterization of craniopharyngiomas as contrast enhanced techniques. ABBREVIATIONS: 3D DRIVE, 3-dimensional driven equilibrium; ACA, anterior cerebral artery; bSSFP, balanced steady-state free precession; ce-T1W, contrast-enhanced T1-weighted imaging; CN, cranial nerve; GTR, gross total resection; STR, subtotal resection.

2.
Oncologist ; 2024 Jul 27.
Article in English | MEDLINE | ID: mdl-39066586

ABSTRACT

BACKGROUND AND AIMS: Liver involvement portends poor prognosis in adults. We aimed to characterize the clinical features, liver function tests, radiologic findings, molecular profiles, therapeutic approaches and outcomes of adults patients with Langerhans cell histiocytosis (LCH) with liver involvement. METHODS: We conducted a retrospective analysis of all adults with LCH (≥ 18 years) seen at Peking Union Medical College Hospital (Beijing, China) between January 2001 and December 2022. RESULTS: Among the 445 newly diagnosed adults with LCH, 90 patients had liver involvement at diagnosis and 22 patients at relapse. The median age was 32 years (range, 18-66 years). Of 112 evaluable patients, 108 had full liver function testing, including alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase (ALP), γ-glutamyl transpeptidase (GGT), and total bilirubin and albumin. Elevated ALP was seen in 63.0% and GGT in 86.1%; 14.8% had elevated bilirubin. Next-generation sequencing of 54 patients revealed frequent BRAFN486_P490 (29.6%), BRAFV600E (18.5%), and MAP2K1 (14.8%). OUTCOMES: After a median 40 months' follow-up (range 1-168 months), 3-year progression-free survival (PFS) and overall survival were 49.7% and 86.6% respectively. In multivariable analyses, ≥3 abnormal liver function tests (HR 3.384, 95% CI 1.550-7.388, P = .002) associated with inferior PFS; immunomodulatory drug therapy (HR 0.073, 95% CI, 0.010-0.541, P = .010) correlated with superior PFS versus chemotherapy. CONCLUSIONS: In summary, elevated GGT and ALP were common in adults with LCH liver involvement. Greater than equal to 3 abnormal liver function tests predicted poor outcomes. Immunomodulatory drug therapy was associated with favorable progression-free survival compared to chemotherapy.

3.
EClinicalMedicine ; 73: 102685, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39022796

ABSTRACT

Background: Rosai-Dorfman disease (RDD) is a rare heterogeneous histiocytic disorder lacking standardized first-line treatment. Methods: This single-center, phase 2 prospective study enrolled 13 newly diagnosed and 10 recurrent RDD patients from June 2021 to March 2023 at Peking Union Medical College Hospital (Beijing, China). Lenalidomide 25 mg days 1-21 plus dexamethasone 40 mg days 1, 8, 15, 22 was administered in 28-day cycles, totaling 12 cycles. The primary endpoint was progression-free survival (PFS). Secondary endpoints were overall response rate (ORR) to lenalidomide and dexamethasone (RD) regimen, toxicity, and overall survival (OS) measured from RD start to death or last follow-up. OS and PFS were estimated according to Kaplan-Meier survival analysis and compared with the log-rank test. For OS and OR rate, 95% confidence limits were obtained using the Clopper-Pearson method, with standard methods used for PFS. p < 0.05 was considered statistically significant. The trial was registered with ClinicalTrials.gov (NCT04924647). Findings: The median age was 44 years (IQR 35-54). All patients had extranodal RDD. MAPK pathway alterations occurred in 6/18 (33%). Elevated IL-6 and TNF-α were found in 39% (n = 9) and 70% (n = 16), respectively. All patients received ≥6 cycles (median 12, range 6-12, IQR 10-12). The ORR was 87% (20/23, 95% CI 66%-97%), 30% (n = 7) complete remission, 57% (n = 13) partial remission). Treatment with RD significantly decreased median serum levels of both IL-6 (from 5.9 (IQR 4.2-8.7) to 2.9 (IQR 2.1-5.9) pg/mL, p = 0.031) and TNF-α (from 12.2 (IQR 8.6-17.9) to 8.3 (IQR 6.1-10.5) pg/mL, p = 0.0012). With a median 26 months follow-up (range 6-28, IQR 16-28), 4 patients relapsed and none died. Two-year OS and PFS were 100.0% (95% CI 85%-100%) and 69.0% (95% CI 51%-94%), respectively. No grade 3-4 adverse events or discontinuations due to adverse events occurred. Twelve patients (n = 12, 52%) had grade 1-2 hematological toxicity. Other toxicities included constipation (n = 2, 9%), glucose intolerance (n = 2, 9%), edema (n = 2, 9%), insomnia (n = 1, 4%), and tremor (n = 1, 4%). Interpretation: Lenalidomide and dexamethasone regimen is an effective and safe regimen for newly diagnosed and recurrent RDD. Funding: National Natural Science Foundation of China, Beijing Natural Science Haidian frontier Foundation Funding, and the National High Level Hospital Clinical Research Funding.

4.
Front Psychol ; 15: 1389935, 2024.
Article in English | MEDLINE | ID: mdl-38831948

ABSTRACT

Much of the existing knowledge regarding the impact of beauty ideals and body positive social media content on women's body image is based on the Western cultural context. This limits our understanding of the issue in other cultures, such as China, among others. Therefore, to address this gap, this study examined young Chinese women's perspectives on beauty ideals and body positivity in social media through a qualitative investigation. Female university students in China (N = 24) participated in individual interviews. A thematic analysis revealed four primary themes: (1) characteristics of mainstream beauty ideals in Chinese social media; (2) impact of beauty ideals on young women; (3) perspectives on the content and roles of body positivity; (4) influences of body positive social media content on young women. These findings indicate that young Chinese women are aware of the beauty ideals in social media and their negative impact on their body image. Furthermore, young Chinese women generally expressed a favorable outlook on body positivity but noted its limitations.

5.
Article in English | MEDLINE | ID: mdl-38836996

ABSTRACT

PURPOSE OF REVIEW: This review provides an overview of the current and future role of artificial intelligence (AI) and virtual reality (VR) in addressing the complexities inherent to the diagnosis, classification, and management of headache disorders. RECENT FINDINGS: Through machine learning and natural language processing approaches, AI offers unprecedented opportunities to identify patterns within complex and voluminous datasets, including brain imaging data. This technology has demonstrated promise in optimizing diagnostic approaches to headache disorders and automating their classification, an attribute particularly beneficial for non-specialist providers. Furthermore, AI can enhance headache disorder management by enabling the forecasting of acute events of interest, such as migraine headaches or medication overuse, and by guiding treatment selection based on insights from predictive modeling. Additionally, AI may facilitate the streamlining of treatment efficacy monitoring and enable the automation of real-time treatment parameter adjustments. VR technology, on the other hand, offers controllable and immersive experiences, thus providing a unique avenue for the investigation of the sensory-perceptual symptomatology associated with certain headache disorders. Moreover, recent studies suggest that VR, combined with biofeedback, may serve as a viable adjunct to conventional treatment. Addressing challenges to the widespread adoption of AI and VR in headache medicine, including reimbursement policies and data privacy concerns, mandates collaborative efforts from stakeholders to enable the equitable, safe, and effective utilization of these technologies in advancing headache disorder care. This review highlights the potential of AI and VR to support precise diagnostics, automate classification, and enhance management strategies for headache disorders.

6.
J Am Coll Radiol ; 2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38866067

ABSTRACT

Medical extended reality (MXR), encompassing augmented reality, virtual reality, and mixed reality (MR), presents a novel paradigm in radiology training by offering immersive, interactive, and realistic learning experiences in health care. Although traditional educational tools in the field of radiology are essential, it is necessary to capitalize on the innovative and emerging educational applications of extended reality (XR) technologies. At the most basic level of learning anatomy, XR has been extensively used with an emphasis on its superiority over conventional learning methods, especially in spatial understanding and recall. For imaging interpretation, XR has fostered the concepts of virtual reading rooms by enabling collaborative learning environments and enhancing image analysis and understanding. Moreover, image-guided interventions in interventional radiology have witnessed an uptick in XR utilization, illustrating its effectiveness in procedural training and skill acquisition for medical students and residents in a safe and risk-free environment. However, there remain several challenges and limitations for XR in radiology education, including technological, economic, and ergonomic challenges and and integration into existing curricula. This review explores the transformative potential of MXR in radiology education and training along with insights on the future of XR in radiology education, forecasting advancements in immersive simulations, artificial intelligence integration for personalized learning, and the potential of cloud-based XR platforms for remote and collaborative training. In summation, MXR's burgeoning role in reshaping radiology education offers a safer, scalable, and more efficient training model that aligns with the dynamic healthcare landscape.

9.
J Med Ext Real ; 1(1): 4-12, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-38505474

ABSTRACT

Medical extended reality (MXR) has emerged as a dynamic field at the intersection of health care and immersive technology, encompassing virtual, augmented, and mixed reality applications across a wide range of medical disciplines. Despite its rapid growth and recognition by regulatory bodies, the field lacks a standardized taxonomy to categorize its diverse research and applications. This American Medical Extended Reality Association guideline, authored by the editorial board of the Journal of Medical Extended Reality, introduces a comprehensive taxonomy for MXR, developed through a multidisciplinary and international collaboration of experts. The guideline seeks to standardize terminology, categorize existing work, and provide a structured framework for future research and development in MXR. An international and multidisciplinary panel of experts was convened, selected based on publication track record, contributions to MXR, and other objective measures. Through an iterative process, the panel identified primary and secondary topics in MXR. These topics were refined over several rounds of review, leading to the final taxonomy. The taxonomy comprises 13 primary topics that jointly expand into 180 secondary topics, demonstrating the field's breadth and depth. At the core of the taxonomy are five overarching domains: (1) technological integration and innovation; (2) design, development, and deployment; (3) clinical and therapeutic applications; (4) education, training, and communication; and (5) ethical, regulatory, and socioeconomic considerations. The developed taxonomy offers a framework for categorizing the diverse research and applications within MXR. It may serve as a foundational tool for researchers, clinicians, funders, academic publishers, and regulators, facilitating clearer communication and categorization in this rapidly evolving field. As MXR continues to grow, this taxonomy will be instrumental in guiding its development and ensuring a cohesive understanding of its multifaceted nature.

10.
AJNR Am J Neuroradiol ; 45(4): 379-385, 2024 04 08.
Article in English | MEDLINE | ID: mdl-38453413

ABSTRACT

BACKGROUND AND PURPOSE: The use of MR imaging in emergency settings has been limited by availability, long scan times, and sensitivity to motion. This study assessed the diagnostic performance of an ultrafast brain MR imaging protocol for evaluation of acute intracranial pathology in the emergency department and inpatient settings. MATERIALS AND METHODS: Sixty-six adult patients who underwent brain MR imaging in the emergency department and inpatient settings were included in the study. All patients underwent both the reference and the ultrafast brain MR protocols. Both brain MR imaging protocols consisted of T1-weighted, T2/T2*-weighted, FLAIR, and DWI sequences. The ultrafast MR images were reconstructed by using a machine-learning assisted framework. All images were reviewed by 2 blinded neuroradiologists. RESULTS: The average acquisition time was 2.1 minutes for the ultrafast brain MR protocol and 10 minutes for the reference brain MR protocol. There was 98.5% agreement on the main clinical diagnosis between the 2 protocols. In head-to-head comparison, the reference protocol was preferred in terms of image noise and geometric distortion (P < .05 for both). The ultrafast ms-EPI protocol was preferred over the reference protocol in terms of reduced motion artifacts (P < .01). Overall diagnostic quality was not significantly different between the 2 protocols (P > .05). CONCLUSIONS: The ultrafast brain MR imaging protocol provides high accuracy for evaluating acute pathology while only requiring a fraction of the scan time. Although there was greater image noise and geometric distortion on the ultrafast brain MR protocol images, there was significant reduction in motion artifacts with similar overall diagnostic quality between the 2 protocols.


Subject(s)
Brain Diseases , Inpatients , Adult , Humans , Magnetic Resonance Imaging/methods , Brain/diagnostic imaging , Brain/pathology , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Time
11.
Leukemia ; 38(4): 803-809, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38388646

ABSTRACT

Langerhans cell histiocytosis (LCH) lacks a standardized first-line therapy. This single-center, phase 2 prospective study (NCT04121819) enrolled 61 newly diagnosed adult LCH patients with multisystem or multifocal single system disease from October 2019 to June 2022. Subcutaneous cytarabine (100 mg/m2 for 5 days) was administered in 35-day cycles for 12 total cycles. The primary endpoint was event-free survival (EFS). The median age was 33 years (range 18-66). Twelve patients (19.7%) had liver involvement, of which 2 also had spleen involvement. Among 43 patients undergoing next-generation sequencing, BRAF alterations (44.2%) were most frequent, followed by TP53 (16.3%), MAP2K1 (14.0%) and IDH2 (11.6%). MAPK pathway alterations occurred in 28 patients (65.1%). The overall response rate was 93.4%, with 20 (32.7%) achieving complete response and 37 (60.7%) partial response. After a median 30 months follow-up, 21 (34.4%) relapsed without deaths. Estimated 3-year OS and EFS were 100.0% and 58.5%, respectively. Multivariate analysis identified ≥3 involved organs (P = 0.007; HR 3.937, 95% CI: 1.456-9.804) and baseline lung involvement (P = 0.028; HR 2.976, 95% CI: 1.126-7.874) as poor prognostic factors for EFS. The most common grade 3-4 toxicities were neutropenia (27.9%), thrombocytopenia (1.6%), and nausea (1.6%). In conclusion, cytarabine monotherapy is an effective and safe regimen for newly diagnosed adults, while baseline lung or ≥3 involved organs confers poor prognosis.


Subject(s)
Cytarabine , Histiocytosis, Langerhans-Cell , Adult , Humans , Adolescent , Young Adult , Middle Aged , Aged , Prospective Studies , Histiocytosis, Langerhans-Cell/drug therapy , Histiocytosis, Langerhans-Cell/diagnosis , Disease-Free Survival , Antineoplastic Combined Chemotherapy Protocols/adverse effects
12.
Curr Pain Headache Rep ; 28(3): 83-94, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38175490

ABSTRACT

PURPOSE OF REVIEW: This review provides medical practitioners with an overview of the present and emergent roles of telehealth and associated virtual reality (VR) applications in chronic pain (CP) management, particularly in the post-COVID-19 healthcare landscape. RECENT FINDINGS: Accumulated evidence points to the efficacy of now well-established telehealth modalities, such as videoconferencing, short messaging service (SMS), and mobile health (mHealth) applications in complementing remote CP care. More recently, and although still in early phases of clinical implementation, a wide range of VR-based interventions have demonstrated potential for improving the asynchronous remote management of CP. Additionally, VR-associated technologies at the leading edge of science and engineering, such as VR-assisted biofeedback, haptic technology, high-definition three-dimensional (HD3D) conferencing, VR-enabled interactions in a Metaverse, and the use of wearable monitoring devices, herald a new era for remote, synchronous patient-physician interactions. These advancements hold the potential to facilitate remote physical examinations, personalized remote care, and innovative interventions such as ultra-realistic biofeedback. Despite the promise of VR-associated technologies, several limitations remain, including the paucity of robust long-term effectiveness data, heterogeneity of reported pain-related outcomes, challenges with scalability and insurance coverage, and demographic-specific barriers to patient acceptability. Future research efforts should be directed toward mitigating these limitations to facilitate the integration of telehealth-associated VR into the conventional management of CP. Despite ongoing barriers to widespread adoption, recent evidence suggests that VR-based interventions hold an increasing potential to complement and enhance the remote delivery of CP care.


Subject(s)
COVID-19 , Chronic Pain , Telemedicine , Virtual Reality , Humans , Chronic Pain/therapy , Telemedicine/methods
13.
Neuroradiol J ; 37(3): 323-331, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38195418

ABSTRACT

BACKGROUND AND PURPOSE: Deep learning (DL) accelerated MR techniques have emerged as a promising approach to accelerate routine MR exams. While prior studies explored DL acceleration for specific lumbar MRI sequences, a gap remains in comprehending the impact of a fully DL-based MRI protocol on scan time and diagnostic quality for routine lumbar spine MRI. To address this, we assessed the image quality and diagnostic performance of a DL-accelerated lumbar spine MRI protocol in comparison to a conventional protocol. METHODS: We prospectively evaluated 36 consecutive outpatients undergoing non-contrast enhanced lumbar spine MRIs. Both protocols included sagittal T1, T2, STIR, and axial T2-weighted images. Two blinded neuroradiologists independently reviewed images for foraminal stenosis, spinal canal stenosis, nerve root compression, and facet arthropathy. Grading comparison employed the Wilcoxon signed rank test. For the head-to-head comparison, a 5-point Likert scale to assess image quality, considering artifacts, signal-to-noise ratio (SNR), anatomical structure visualization, and overall diagnostic quality. We applied a 15% noninferiority margin to determine whether the DL-accelerated protocol was noninferior. RESULTS: No significant differences existed between protocols when evaluating foraminal and spinal canal stenosis, nerve compression, or facet arthropathy (all p > .05). The DL-spine protocol was noninferior for overall diagnostic quality and visualization of the cord, CSF, intervertebral disc, and nerve roots. However, it exhibited reduced SNR and increased artifact perception. Interobserver reproducibility ranged from moderate to substantial (κ = 0.50-0.76). CONCLUSION: Our study indicates that DL reconstruction in spine imaging effectively reduces acquisition times while maintaining comparable diagnostic quality to conventional MRI.


Subject(s)
Deep Learning , Lumbar Vertebrae , Magnetic Resonance Imaging , Humans , Magnetic Resonance Imaging/methods , Male , Lumbar Vertebrae/diagnostic imaging , Female , Prospective Studies , Middle Aged , Aged , Signal-To-Noise Ratio , Spinal Stenosis/diagnostic imaging , Adult , Spinal Diseases/diagnostic imaging
14.
Curr Probl Diagn Radiol ; 53(2): 230-234, 2024.
Article in English | MEDLINE | ID: mdl-38245428

ABSTRACT

RATIONALE AND OBJECTIVE: To assess the perceptions of radiology staff regarding the role of virtual reality technology in diagnostic radiology after using a virtual reality (VR) headset METHODS: Participants completed a pre-study questionnaire assessing their familiarity with VR technology and its potential role in radiology. Using a VR headset, participants entered a simulated reading room (SieVRt, Luxsonic Technologies) with three large virtual monitors. They were able to view plain radiographs, ultrasound, CT, and MRI images and pull up and compare multiple images simultaneously. They then completed a post-study questionnaire to re-assess their perception about the role of VR technology for diagnostic radiology. RESULTS: Fifteen participants were enrolled, with 33.3 % attendings, 40 % fellows, and 26.7 % residents. Pre-study, 60 % reported they were "not familiar" with VR technology and 66.7 % had never used it. On a 1 to 5 scale, the median perceived likelihood of VR having a role in radiology significantly increased from 3 (IQR 2-3) pre-study to 4 (IQR 4-4) post-study; p = 0.014. Image contrast and resolution were adequate according to most participants, with 53.3 % strongly agreeing and 33.3 % agreeing. The headset was comfortable for 73.3 % and did not induce nausea in any participant. Confidence in VR technology improved after using the headset for 80 %. According to 80 %, future VR technology could replace a PACS workstation. DISCUSSION: Radiologists' perception regarding the role of virtual reality in diagnostic interpretation improves after a hands-on trial of the technology, and VR has the potential to replace a traditional workstation in certain situations.


Subject(s)
Radiology , Virtual Reality , Humans , Radiography , Surveys and Questionnaires , Radiologists
15.
J Neuroimaging ; 34(1): 5-25, 2024.
Article in English | MEDLINE | ID: mdl-37872430

ABSTRACT

The hippocampus is a complex structure located in the mesial temporal lobe that plays a critical role in cognitive and memory-related processes. The hippocampal formation consists of the dentate gyrus, hippocampus proper, and subiculum, and its importance in the neural circuitry makes it a key anatomic structure to evaluate in neuroimaging studies. Advancements in imaging techniques now allow detailed assessment of hippocampus internal architecture and signal features that has improved identification and characterization of hippocampal abnormalities. This review aims to summarize the neuroimaging features of the hippocampus and its common pathologies. It provides an overview of the hippocampal anatomy on magnetic resonance imaging and discusses how various imaging techniques can be used to assess the hippocampus. The review explores neuroimaging findings related to hippocampal variants (incomplete hippocampal inversion, sulcal remnant and choroidal fissure cysts), and pathologies of neoplastic (astrocytoma and glioma, ganglioglioma, dysembryoplastic neuroepithelial tumor, multinodular and vacuolating neuronal tumor, and metastasis), epileptic (mesial temporal sclerosis and focal cortical dysplasia), neurodegenerative (Alzheimer's disease, progressive primary aphasia, and frontotemporal dementia), infectious (Herpes simplex virus and limbic encephalitis), vascular (ischemic stroke, arteriovenous malformation, and cerebral cavernous malformations), and toxic-metabolic (transient global amnesia and opioid-associated amnestic syndrome) etiologies.


Subject(s)
Alzheimer Disease , Epilepsy, Temporal Lobe , Epilepsy , Glioma , Humans , Child , Hippocampus/diagnostic imaging , Hippocampus/pathology , Epilepsy/pathology , Temporal Lobe/pathology , Magnetic Resonance Imaging , Alzheimer Disease/pathology , Glioma/pathology
16.
Orphanet J Rare Dis ; 18(1): 372, 2023 Nov 30.
Article in English | MEDLINE | ID: mdl-38037140

ABSTRACT

BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of studies examining unifocal LCH in adults in the molecular era. RESULTS: We retrospectively analysed records from 70 patients with unifocal LCH. The median age at diagnosis was 36 years (18-69). The most common organ involved was the bone (70.0%), followed by pituitary gland (7.1%). Target gene sequencing of lesion tissues was performed on 32 of the 70 patients. MAPK/PI3K pathway alterations were observed in 78.1% of the patients; the most common mutations included BRAFV600E (28.1%), MAP2K1 (18.8%) and PIK3CA (9.4%). After a median follow-up time of 39.4 months (0.7-211.8), 10 (14.3%) patients developed disease progression, of whom 4 had local recurrence, 2 progressed to single-system multifocal and 4 progressed to multiple system LCH. The 3-year progression-free survival (PFS) was 81.9%. Univariate analysis showed that age < 30 years at diagnosis was associated with worse 3-year PFS (52.2% vs. 97.0%, p = 0.005). The 3-year overall survival was 100%. CONCLUSIONS: In our large cohort of adults with unifocal LCH, we found that prognosis of unifocal LCH in adults was very good, and age < 30 years at diagnosis was associated with increased relapse risk.


Subject(s)
Histiocytosis, Langerhans-Cell , Phosphatidylinositol 3-Kinases , Humans , Adult , Adolescent , Young Adult , Middle Aged , Aged , Retrospective Studies , Histiocytosis, Langerhans-Cell/genetics , Disease Progression , Genomics
17.
J Transl Med ; 21(1): 721, 2023 10 14.
Article in English | MEDLINE | ID: mdl-37838657

ABSTRACT

BACKGROUND: Triple-negative breast cancer (TNBC) development may be associated with tumor immune escape. This study explores whether the CHI3L1/MAF/CTLA4/S100A4 axis affects immune escape in TNBC through interplay with triple-negative breast cancer stem cells (TN-BCSCs). OBJECTIVE: The aim of this study is to utilize single-cell transcriptome sequencing (scRNA-seq) to uncover the molecular mechanisms by which the CHI3L1/MAF/CTLA4 signaling pathway may mediate immune evasion in triple-negative breast cancer through the interaction between tumor stem cells (CSCs) and immune cells. METHODS: Cell subsets in TNBC tissues were obtained through scRNA-seq, followed by screening differentially expressed genes in TN-BCSCs and B.C.s (CD44+ and CD24-) and predicting the transcription factor regulated by CHI3L1. Effect of CHI3L1 on the stemness phenotype of TNBC cells investigated. Effects of BCSCs-231-derived CHI3L1 on CTLA4 expression in T cells were explored after co-culture of BCSCs-231 cells obtained from microsphere culture of TN-BCSCs with T cells. BCSCs-231-treated T cells were co-cultured with CD8+ T cells to explore the resultant effect on T cell cytotoxicity. An orthotopic B.C. transplanted tumor model in mice with humanized immune systems was constructed, in which the Role of CHI3L1/MAF/CTLA4 in the immune escape of TNBC was explored. RESULTS: Eight cell subsets were found in the TNBC tissues, and the existence of TN-BCSCs was observed in the epithelial cell subset. CHI3L1 was related to the stemness phenotype of TNBC cells. TN-BCSC-derived CHI3L1 increased CTLA4 expression in T cells through MAF, inhibiting CD8+ T cell cytotoxicity and inducing immunosuppression. Furthermore, the CTLA4+ T cells might secrete S100A4 to promote the stemness phenotype of TNBC cells. CONCLUSIONS: TN-BCSC-derived CHI3L1 upregulates CTLA4 expression in T cells through MAF, suppressing the function of CD8+ T cells, which promotes the immune escape of TNBC.


Subject(s)
Triple Negative Breast Neoplasms , Humans , Animals , Mice , Triple Negative Breast Neoplasms/genetics , CTLA-4 Antigen/metabolism , CD8-Positive T-Lymphocytes/metabolism , Signal Transduction , Neoplastic Stem Cells/pathology , Cell Line, Tumor , Chitinase-3-Like Protein 1/metabolism
19.
R Soc Open Sci ; 10(9): 230814, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37736526

ABSTRACT

China is located in East Asia. With a high genetic and cultural diversity, human migration in China has always been a hot topic of genetics research. To explore the origins and migration routes of Chinese males, 3333 Chinese individuals (Han, Hui, Mongolia, Yi and Kyrgyz) with 27 Y-STRs and 143 Y-SNPs from published literature were analysed. Our data showed that there are five dominant haplogroups (O2-M122, O1-F265, C-M130, N-M231, R-M207) in China. Combining analysis of haplogroup frequencies, geographical positions and time with the most recent common ancestor (TMRCA), we found that haplogroups C-M130, N-M231 and R1-M173 and O1a-M175 probably migrated into China via the northern route. Interestingly, we found that haplogroup C*-M130 in China may originate in South Asia, whereas the major subbranches C2a-L1373 and C2b-F1067 migrated from northern China. The results of BATWING showed that the common ancestry of Y haplogroup in China can be traced back to 17 000 years ago, which was concurrent with global temperature increases after the Last Glacial Maximum.

SELECTION OF CITATIONS
SEARCH DETAIL