bluuebunny/crossref_metadata_2025 huggingface dataset:
Public awareness, knowledge, and attitude toward epilepsy in Lebanon: a cross-sectional study
Authors: Younes Samar , Chahine Bahia , Hanna Venise , Mourad Nisreen , Al Souheil Farah , Al Mazrouei Nadia , Rahal Mohamad , Malaeb Diana
Published: December 2024

Purpose

Epilepsy, a prevalent chronic neurological disorder, is associated with misconceptions, negative attitudes, and stigma because of poor public knowledge and awareness. Therefore, the purpose of the current study was to assess the knowledge, awareness, and attitudes toward epilepsy and its associated factors among the Lebanese general population.

Methods

A cross-sectional study was conducted on Lebanese adults between October 2021 and June 2022 using an electronic structured self-administered questionnaire that was circulated online using the different social media platforms. Data related to participants’ demographic characteristics, knowledge, awareness, and attitude about epilepsy were measured. Eight items were included in the knowledge score that ranged between “0 and 16”, five items were included in the awareness score and ranged between 0 and 10. Likewise, the attitude score was calculated from 14 items and the score ranged between “0 and 28”. Data was analyzed using descriptive statistics, and logistic regression was employed to identify factors associated with knowledge and awareness of epilepsy.

Results

A total of 301 participants filled the questionnaire with a mean age of 28.68 and majority (66%) were females. The analyzed scores revealed that most of the participants (87.4%) had a good knowledge regarding epilepsy as a disease with mean of 10.2 (± 2.14), 70.1% had good awareness about epilepsy with mean of 6.3 (± 1.4), and 88% had good attitude toward patients with epilepsy with mean of 21.5 (± 6.2). Attending lecture about epilepsy was significantly associated with higher knowledge (OR 5.756, CI 95% 4.652–11.676, p < 0.001), better awareness (OR 4.936, CI 95% 3.062–10.566, p < 0.001) and attitude (OR 5.187, CI 95% 1.687–9.761, p < 0.014) toward the disease.

Conclusion

The findings of this study reflected an adequate knowledge and awareness, as well a positive attitude toward patients with epilepsy in Lebanon. However, there is a need for raising societal awareness and understanding of epilepsy to minimize the public misconceptions and reduce the stigma and discriminatory attitudes toward epileptic patients.
Exploring ultrasound and electromyography for carpal tunnel syndrome diagnosis: a comprehensive comparative study and implications for occupational medicine
Authors: Braham Salem , Moussa Amen , Bouhoula Marwa , Ben Meriem Nihel , Annen Ichraf , Sakly Ghazi , Chouchane Asma , Ben Abdelkader Malek , Aloui Asma , Kacem Imène , Maoua Maher , Kalboussi Houda , Elmaalel Olfa , Mhabrech Houda , Chatti Souheil , Brahem Aicha
Published: December 2024

Background

To assess the contribution of ultrasound in diagnosing occupational carpal tunnel syndrome (CTS), compare it with electromyography (EMG) results, and evaluate the ultrasound characteristics of CTS patients.

Methods

A nine-month cross-sectional study (January–September 2021) involved CTS patients and a control group, utilizing a structured form for data collection. EMG was performed on the patient group (‘cases’) and ultrasound examinations were conducted on both groups. Statistical analysis was performed using SPSS software.

Results

Among 44 cases and 30 controls, CTS patients (mean age 44.9 years) exhibited predominantly bilateral symptoms (90.9%). The optimal cross-sectional area (CSA) threshold for diagnosis was 10.3 mm2 (89% sensitivity, 84% specificity). Significant differences in ultrasound criteria were observed between patient and control groups, including the “notch sign” (p = 0.012), hypoechoic appearance (p = 0.016), and reduced median nerve mobility (p = 0.021). Quantitatively, CSA (13.7 mm2 vs. 7.4 mm2), flattening ratio (3.3 vs. 2.1), and retinaculum bulging (3.2 mm vs. 1.9 mm) significantly differed between cases and controls (p = 0.0019, 0.025, and 0.01, respectively). Positive Phalen tests correlated with higher CSA (p = 0.005) and retinacular bulging (p = 0.02). CSA correlated with EMG parameters, indicating slower conduction velocities, lower amplitudes, and longer latencies (p < 10^(−3), r = −0.56, −0.62, −0.36, and −0.68, respectively).

Conclusion

This study highlights ultrasound’s diagnostic potential for CTS, particularly in occupational settings. Its non-invasiveness and reliability advocate for its integration into routine diagnostic protocols, supporting evidence-based management strategies. Further research is needed to explore long-term efficacy and broader applicability.
Clinical observations from the clinical video head pulse test in patients with idiopathic horizontal semicircular canal light cupula
Authors: Song Niu , Jingling Chang , Wenyan Xu , Xuemei Pei
Published: December 2024

Objective

The objective of the study is to analyze and explore the characteristics of the video head impulse test (vHIT) for light cupula in the idiopathic horizontal semicircular canal and compare them with those of horizontal semicircular canal cupulolithiasis (HC-cu) in order to investigate the potential mechanism involved.

Methods

Data from 51 cases of idiopathic light cupula and 42 cases of horizontal semicircular canal cupulolithiasis were retrospectively analyzed. The positional nystagmus features, vHIT anomaly rate, gain value, saccades, and other indicators were compared. SPSS 26 and Medcalc 22 were used to analyze the differences and correlations.

Results

There were no differences in sex, age, the affected side, and positional nystagmus between the light cupula group and HC-cu group (p > 0.05). The overall abnormal rate of the vHIT (56.86% vs. 21.43%), the abnormal rate of the affected side (23.53% vs. 0.00%), and the saccade ratio of the affected side [40.0 (13.0, 76.0) vs. 6.0 (0.0, 15.0)] in the light cupula group were higher than those in the HC-cu group. The HC saccade ratio in the light cupula group was higher on the affected side than on the healthy side [40.0 (13.0, 76.0) vs. 11.0 (0.0, 38.0)], and the differences were statistically significant (p < 0.05). The receiver operating characteristic (ROC) curve analysis showed that the abnormal vHIT results and saccade ratio of the light cupula group were correlated with the affected side (p < 0.05).

Conclusion

The vHIT results of idiopathic HC light cupula and HC-Cu were different as they are distinct diseases. Light cupula may be associated with some mild lesions in the vestibulo-ocular reflex (VOR) pathway. The lighter cupula theory is the possible mechanism.
The research focus and frontiers in surgical treatment of essential tremor
Authors: Zhang Linlin , Cui Shifang , Bi Hongyan , Chen Qiang , Kan Mengfan , Wang Cheng , Pu Yu , Cheng Hongxia , Huang Bin
Published: December 2024

Background

Essential tremor (ET) is one of the most prevalent neurodegenerative disorders, with surgery serving as the principal treatment option. This paper presents a bibliometric analysis of research in the field of ET surgery from 2004 to 2024, aiming to identify current research hotspots and inform future research directions.

Methods

This study employs CiteSpace to analyze publication trends, countries/institutions, authors, keywords, and co-cited references in ET surgery, using the Web of Science core database from 2004 to 2024 to delineate the research pathways.

Results

A total of 1,362 publications were included in this study. The number of publications has shown steady growth over the analyzed period from 2004 to 2024. Research in this field was carried out in 58 countries and by 371 institutions. The United States had the highest volume of publications, with the University of California System identified as the most prolific institution. Dr. Michael S. Okun from the University of Florida was the most prolific author, also based in the United States. This study identified 879 keywords, with significant citation bursts noted in areas such as the caudal zona incerta, ventral intermediate nucleus, location, and MR-guided focused ultrasound. Among the top ten highly cited articles, five pertained to MR-guided focused ultrasound thalamotomy, two addressed localization techniques, and one focused on surgical targets.

Conclusion

This study employs comprehensive bibliometric and visualization analyses to elucidate the evolution of research and identify emerging hotspots. The identified hotspots are as follows: First, deep brain stimulation (DBS), the most advanced technology in ET surgery, has room for improvement, especially in neuromodulation automation. Second, MR-guided focused ultrasound thalamotomy is a new surgical approach that requires further research on efficacy, safety, and side effect management. Third, novel surgical targets have demonstrated some efficacy, yet further research is essential to validate their effectiveness and safety. Lastly, localization techniques are fundamental to ET surgery, with ongoing efforts directed towards achieving more precise, individualized, and intelligent localization.
Cranial volume measurement with artificial intelligence and cognitive scales in patients with clinically isolated syndrome
Authors: Albuz Özlem , Acir Ibrahim , Haşimoğlu Ozan , Suskun Melis , Hocaoğlu Elif , Yayla Vildan
Published: December 2024

Objective

We aimed to investigate the relationship between volumetric measurements of specific brain regions which were measured with artificial intelligence (AI) and various neuropsychological tests in patients with clinically isolated syndrome.

Materials and methods

A total of 28 patients diagnosed with CIS were included in the study. The patients were administered Öktem Verbal Memory Processes Test, Symbol Digit Modalities Test (SDMT), Backward-Forward Digit Span Test, Stroop Test, Trail Making Test, Controlled Oral Word Association Test (COWAT), Brief Visuospatial Memory Test, Judgement of Line Orientation Test, Beck Depression Scale, Beck Anxiety Scale and Fatigue Severity Scale. Artificial intelligence assisted BrainLab Elements™ Atlas-Based Automatic Segmentation program was used for calculating volumes. The measured volumes were compared with the reference database. In addition, neuropsychological test performances and volumetric measurements of the patients were compared.

Results

Of the patients included in the study, 78.6% were female and 21.4% were male, with an average age of 33 years. Verbal Memory Processes Test, SDMT, Backward-Forward Digit Span, JLOT, and Stroop Test showed significant correlations with multiple anatomical regions, particularly the anterior thalamic nucleus, which was associated with the highest number of cognitive tests. The JLOT exhibited the strongest correlation with six different brain regions (p < 0.001).

Conclusion

The Judgement of Line Orientation and Stroop Tests, correlated with multiple brain regions, especially the anterior thalamic nucleus, underscoring the importance of these tests in assessing cognitive function in CIS.
Gene therapy for hearing loss: challenges and the promise of cellular plasticity and epigenetic modulation
Authors: Das Samprita , Manor Uri
Published: December 2024

Hearing loss can profoundly impact an individual’s quality of life, affecting communication, social interactions, and overall well-being. Many people with hearing impairment report feelings of isolation, frustration, and decreased confidence in social settings, which can lead to withdrawal from activities they once enjoyed. Genetics plays a significant role in congenital hearing loss, accounting for approximately half of all cases. While gene therapy holds immense promise for restoring hearing function in cases of hereditary hearing loss (HHL), current methods face certain challenges that must be overcome to successfully develop therapeutic approaches. This review will explore these challenges and offer a perspective on how epigenetic modulation has the potential to address them, potentially revolutionizing the treatment of genetic hearing disorders.
A fusion analytic framework for investigating functional brain connectivity differences using resting-state fMRI
Authors: Jeon Yeseul , Kim Jeong-Jae , Yu SuMin , Choi Junggu , Han Sanghoon
Published: December 2024

Introduction

Functional magnetic resonance imaging (fMRI) data is highly complex and high-dimensional, capturing signals from regions of interest (ROIs) with intricate correlations. Analyzing such data is particularly challenging, especially in resting-state fMRI, where patterns are less identifiable without task-specific contexts. Nonetheless, interconnections among ROIs provide essential insights into brain activity and exhibit unique characteristics across groups.

Methods

To address these challenges, we propose an interpretable fusion analytic framework to identify and understand ROI connectivity differences between two groups, revealing their distinctive features. The framework involves three steps: first, constructing ROI-based Functional Connectivity Networks (FCNs) to manage resting-state fMRI data; second, employing a Self-Attention Deep Learning Model (Self-Attn) for binary classification to generate attention distributions encoding group-level differences; and third, utilizing a Latent Space Item-Response Model (LSIRM) to extract group-representative ROI features, visualized on group summary FCNs.

Results

We applied our framework to analyze four types of cognitive impairments, demonstrating their effectiveness in identifying significant ROIs that contribute to the differences between the two disease groups. The results reveal distinct connectivity patterns and unique ROI features, which differentiate cognitive impairments. Specifically, our framework highlighted group-specific differences in functional connectivity, validating its capability to capture meaningful insights from high-dimensional fMRI data.

Discussion

Our novel interpretable fusion analytic framework addresses the challenges of analyzing high-dimensional, resting-state fMRI data. By integrating FCNs, a Self-Attention Deep Learning Model, and LSIRM, the framework provides an innovative approach to discovering ROI connectivity disparities between groups. The attention distribution and group-representative ROI features offer interpretable insights into brain activity patterns and their variations among cognitive impairment groups. This methodology has significant potential to enhance our understanding of cognitive impairments, paving the way for more targeted therapeutic interventions.
Evaluation of the covariation between leukotriene B4, prostaglandin E2, and hematologic inflammatory parameters in a canine pentylenetetrazole-induced seizure model
Authors: Koo Yoonhoi , Yun Taesik , Chae Yeon , Lee Dohee , Kim Hakhyun , Yang Mhan-Pyo , Kang Byeong-Teck
Published: December 2024

Background

Seizures can cause as well as result from neuroinflammation. This study was performed to identify the hematologic inflammatory parameters (HIPs) and inflammatory mediators that change after a single seizure in a canine pentylenetetrazole (PTZ)-induced seizure model.

Methods

Five healthy Beagle dogs were used in this study. A 3% solution of PTZ was infused until the occurrence of generalized convulsion. Two separate experiments were conducted to observe changes in HIPs over short and long time periods. Blood sampling time points were divided into two periods as follows: short period (baseline, 30, 60, 90, and 120 min after seizure induction) and long period (baseline, 2, 6, 12, 24, and 48 h after seizure induction). The HIPs were calculated, and the serum prostaglandin E2 (PGE2) and leukotriene B4 (LTB4) concentrations were estimated using enzyme-linked immunosorbent assay.

Results

Significant changes (p < 0.05) in various HIPs were observed at different time point as follows: neutrophil × monocyte (90 min), neutrophil-to-lymphocyte ratio (60, 90, and 120 min), lymphocyte to monocyte ratio (60 min, 90 min, 120 min, 2 h, 12 h, and 24 h), platelet-to-albumin ratio (90 min), lymphocyte percentage × serum albumin concentration (LA; 60 min, 90 min, 120 min, 2 h), and neutrophil × platelet (6 h). LTB4 concentrations were significantly increased (p < 0.05) at 60 and 90 min, and 2, 6, and 48 h after seizure induction. PGE2 was significantly increased only 6 h after seizure induction (p < 0.05). LA was one of the HIPs that demonstrated a correlation with LTB4 concentration and showed significant changes that could be observed for a long-period (p < 0.05, r = −0.4194).

Conclusion

The LA was the only HIP that reflected seizure-associated neuroinflammation. The 5-lipoxygenase pathway might be related to seizure-associated neuroinflammation.
Analgesic effect of Dahuang Fuzi Decoction in neuropathic pain through inhibiting TNF-α and PI3K-AKT signaling
Authors: Qu Jinglian , Gong Qian , He Siyu , Peng Jiuyan , Chen Lingyan , Wang Long , Chen Peng
Published: December 2024

Background

Neuropathic pain (NeP) presents considerable challenges in terms of effective management and significantly impacts the quality of life for affected patients. The current treatment options for NeP are limited, highlighting the need for alternative therapeutic approaches. Dahuang Fuzi Decoction (DF), a formula from traditional Chinese medicine, has shown potential in relieving pain symptoms associated with various types of NeP. However, the mechanisms through which DF exerts its effects remain largely unknown.

Methods

In this study, we employed ultra-high-performance liquid chromatography coupled with high-resolution mass spectrometry (UHPLC-HRMS) to analyze the chemical composition of DF. A chronic sciatic nerve compression injury (CCI) rat mode was used to assess the analgesic efficacy of DF for NeP. Network pharmacology analysis was performed to identify the potential signaling pathways affected by DF.

Results

DF treatment significantly increased the mechanical withdrawal threshold (MWT) and thermal withdrawal latency (TWL) in CCI rats, indicating its analgesic effect. Network pharmacology analysis suggested that DF potentially modulated TNF-α and PI3K-AKT signaling pathways. Furthermore, DF treatment decreased the levels of pro-inflammatory cytokines (IL-1β, IL-6, and TNF-α) in spinal cord tissues of CCI rats, suggesting an anti-inflammatory effect. Western blot analysis revealed that DF treatment reduced the expression of TNF-α, TNFR1, and phosphorylated forms of PI3K, AKT, IKKα/β, IKBα, and NF-κB in the spinal cord of CCI rats. Immunofluorescence analysis confirmed significant reductions in TNF-α and TNFR1 expression, as well as in AKT and NF-κB phosphorylation within astrocytes following DF administration.

Conclusion

Our findings characterize the chemical constituents of DF and elucidate its underlying mechanism for relieving NeP. The analgesic effect of DF involves the inhibition of TNF-α and PI3K-AKT signaling pathways, providing a potential therapeutic approach for NeP management.
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome
Authors: Schottmann Gudrun , Martínez Almudéver Carmen , Knop Julia C. M. , Suk Eun Kyung , Meyer Zianka , Kohlhase Jürgen , Himmelreich Nastassja , Kühnisch Jirko , Ott Claus-Eric , Seifert Wenke
Published: December 2024

Introduction

Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B (VPS13B) gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Methods

The widespread incorporation of next-generation sequencing approaches in genetic diagnostics increases the number of individuals carrying VPS13B mutant alleles. At the same time, it increases the detection of variants of unknown clinical significance, necessitating further functional pathogenicity validation.

Results

In this study, we present a family with two CS patients. Within this family, four rare VPS13B variants were detected: c.710G > C, p.Arg237Pro; c.6804delT, p.Phe2268Leufs*24; c.7304C > T, p.Ala2435Val; and c.10302T > A, p.Tyr3434*. These variants challenge the interpretation of their disease-causing role. Specifically, the variants c.6804delT, p.Phe2268Leufs*24 and c.710G > C, p.Arg237Pro were detected in trans configuration and are considered to be causing CS genetically. The functional characterization of the missense variant c.710G > C, p.Arg237Pro shows diminished localization at the Golgi complex, highlighting its clinical relevance and supporting its classification by the American College of Medical Genetics and Genomics (ACMG) as likely pathogenic, class 4.

Discussion

Overall, we emphasize the need for combining genetic and functional testing of VPS13B missense variants to ensure accurate molecular diagnosis and personalized medical care for CS patients.
Research hotspots and frontiers of vagus nerve stimulation in stroke: a bibliometric analysis
Authors: Liu Mingyue , Liu Mengya , Zhang Bohan , Fang Mingzhu , Chen Ke , Zhang Yishen , Wang Qian , Tian Chunyan , Wu Liang , Li Zhe
Published: December 2024

Background

Vagus nerve stimulation (VNS) has emerged as a promising therapeutic approach for stroke treatment, drawing significant attention due to its potential benefits. However, despite this growing interest, a systematic bibliometric analysis of the research landscape is yet to be conducted.

Methods

We performed a comprehensive search of the Web of Science Core Collection (WoSCC) database for literature published between January 1, 2005, and August 31, 2024. CiteSpace and the Bibliometrix package in R software were used to generate knowledge maps and conduct a bibliometric analysis. This analysis focused on publication output, geographic distribution, institutional involvement, author and co-cited author networks, journal and co-cited journal relationships, co-cited references, and keyword trends.

Results

During the study period, 316 publications on VNS in stroke were identified, authored by 1,631 researchers from 1,124 institutions across 172 countries or regions. The number of publications showed steady growth, with the United States of America (USA) leading as the primary contributor. The University of Texas System emerged as the most active research institution. Frontiers in Neuroscience published the highest number of articles, while Stroke had the most citations. Professor Michael P. Kilgard authored the largest number of papers and was also the most frequently cited researcher. The main research trends focus on investigating VNS mechanisms via animal models and exploring its application in improving post-stroke sensorimotor function in the upper limbs. Moreover, VNS is showing promise in enhancing non-motor functions, such as swallowing, speech, and cognition, while addressing complications like post-stroke insomnia, depression, and disruptions in gut microbiota.

Conclusion

This bibliometric study offers a comprehensive overview of the research landscape and emerging trends in VNS for stroke rehabilitation, providing a solid foundation and reference point for future research directions in this field.
Primary signet-ring cell carcinoma of the prostate involving the pelvis: a case report
Authors: Luo Shuai , Tian Xiaoxue , Xu Ting , Wang Jinjing
Published: December 2024

Background

Signet-ring cell carcinoma (SRCC) originates from undifferentiated stem cells in the neck of glands within the lamina propria of the mucosa. Primarily affecting the stomach, SRCC can also involve the breast, pancreas, gallbladder, colon, and bladder, although these cases are rare. SRCC of the prostate is extremely rare, and diagnosing it via pelvic puncture is particularly challenging. Prostate SRCC is a distinct type of malignant tumor characterized by unique biological behavior, high malignancy, rapid disease progression, and poor prognosis. Due to its rarity, early diagnosis and treatment are critical. Currently, the diagnosis and treatment of this disease present significant challenges.

Case demonstration

A 74-year-old male patient was admitted to our hospital with “left lower abdominal pain, changes in bowel habits, and bloody stools for 2 months.” A contrast-enhanced pelvic CT scan revealed a soft tissue density mass on the left side of the pelvis. Contrast-enhanced Pelvic MRI suggested a tumor with a rich blood supply on the left side of the pelvis, indistinguishable from the left seminal vesicle and prostate gland, indicating the presence of a suspected malignant tumor. Pathologic biopsy of the pelvic mass confirmed the diagnosis of prostate SRCC. The patient subsequently underwent chemoradiotherapy and has been followed up for three months. He is currently in good condition.

Conclusion

SRCC predominantly occurs in the digestive tract and rarely originates in the prostate. Diagnosing prostate SRCC through abdominal paracentesis is challenging. To the best of our knowledge, this is the first reported case of SRCC of the prostate initially presenting with gastrointestinal symptoms. Additionally, it presents a case of prostate SRCC involving the pelvis, confirmed through pelvic puncture. highlighting its significance for clinical diagnosis.
Unveiling the hidden causal links: skin flora and cutaneous melanoma
Authors: Zhang Zexin , Wu Wenfeng , Lin Jiajia , Li Hongyi
Published: December 2024

Objective

The presence of skin flora (SF) has been identified as a significant factor in the onset and progression of cutaneous melanoma (CM). However, the vast diversity and abundance of SF present challenges to fully understanding the causal relationship between SF and CM.

Methods

A Two Sample Mendelian Randomization (TSMR) analysis was conducted to investigating the causal relationship between SF and CM. The Inverse-Variance Weighted (IVW) method was utilized as the primary approach to assess the causal relationship under investigation. Furthermore, an independent external cohort was employed to validate the initial findings, followed by a meta-analysis of the consolidated results. To address potential confounding factors related to the influence of SF on CM, a Multivariate Mendelian Randomization (MVMR) analysis was also conducted. Finally, a Reverse Mendelian Randomization (RMR) was conducted to further validate the causal association.

Results

TSMR results showed that 9 SF have a causal relationship with CM in the training cohort. Although these 9 SF weren’t confirmed in the testing cohort, 4 SF remained significant in the meta-analysis after integrating results from both cohorts. MVMR analysis indicated that 3 SF were still significantly associated with CM after accounting for the interactions between different SF in the training cohort. No reverse causal relationship was identified in RMR analysis.

Conclusion

A total of 9 SF were identified as having a potential causal relationship with CM; however, a large randomized controlled trial is needed to verify these results.
Efficacy and safety of first-line immunotherapy-containing regimens compared with chemotherapy for advanced or metastatic urothelial carcinoma: a network meta-analysis of randomized controlled trials
Authors: Liang Weiming , Huang Shibo , Huang Yanping , Huang Miaoyan , Li Chunyan , Liang Yiwen , Pang Li
Published: December 2024

Introduction

To assess the efficacy and safety of first-line immunotherapy-containing regimens compared with chemotherapy for advanced or metastatic urothelial carcinoma (UC).

Method

A comprehensive search was performed in four databases (Pubmed, Embase, Web of Science, and the Cochrane Library) to identify randomized controlled trials (RCTs) assessing the efficacy of first-line immunotherapy-containing regimens for advanced or metastatic UC. The search encompassed the time span from the inception of the databases to April 23, 2024. A network meta-analysis (NMA) was conducted to assess the rates of progression-free survival (PFS), overall survival (OS), complete response (CR), objective response rate (ORR), and grade ≥ 3 adverse events (AEs).

Results

We conducted a comprehensive analysis of five randomized controlled trials (RCTs) that included a total of 4749 patients. Nine different treatment regimens included in the study were ranked statistically and intuitively using NMA. The top five effective regimens, ranked by OS, were EV + Pembro (1.000), Nivol + Chemo (0.724), Atezo + Chemo (0.610), Durva + Treme (0.558), and Pembro + Chemo (0.530). The top five effective regimens, ranked by PFS, were EV + Pembro (0.999), Nivol + Chemo (0.640), Pembro + Chemo (0.484), Atezo + Chemo (0.373) and Chemo (0.003). The top five effective regimens, ranked by CR, were EV + Pembro (0.969), Nivol + Chemo (0.803), Atezo + Chemo (0.772), Pembro + Chemo (0.472), Durva + Treme (0.449). The top five effective regimens, ranked by ORR, were EV + Pembro (0.995), Nivol + Chemo (0.852), Pembro + Chemo (0.761), Atezo + Chemo (0.623), and Chemo (0.519).

Conclusion

Our results indicated that EV + Pembro as first-line therapy resulted in considerably improved efficacy and safety compared to chemotherapy for advanced or metastatic UC. ICI plus chemotherapy as first-line treatment resulted in a longer PFS, a greater ORR, but no longer OS compared to chemotherapy alone, as well as higher toxicity. ICI alone as first-line therapy provided similar OS and lower toxicity compared to chemotherapy, but lower ORR.

Systematic review registration

https://www.crd.york.ac.uk/prospero, identifier CRD42024538546.
Long-term follow-up of combination therapy with pembrolizumab and anlotinib in thoracic SMARCA4-deficient undifferentiated tumor: a case report and molecular features
Authors: Duan Ting , Xu Mingxin , Zhang Haibo , Wu Shengchang , Wang Haochu , Guo Zhenying
Published: December 2024

Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs), recently recognized as a rare malignancy described in the 5th edition of the World Health Organization Classification of Tumors, are characterized by an inactivating mutation in SMARCA4, most commonly found in the mediastinum of male smokers. Despite the aggressive nature and poor prognosis associated with these tumors, which have a median survival time of approximately 4-7 months, no standardized treatment guidelines are currently established. There are currently no reported cases of extended progression-free survival (PFS) in SMARCA4-UT patients treated with surgery and immunotherapy. Here, we report the clinical features and genomic information of a SMARCA4-UT case in which the patient responded significantly to a combination therapy involving surgery, immunotherapy, and amlotinib. A 56-year-old male non-smoker presented with a mass in the superior lobe of left lung and left hilar adenopathy. A left upper lobectomy and lymphadenectomy were performed, and postoperative pathology confirmed that the tumor was Thoracic SMARCA4-UT. The patient subsequently received chemotherapy with pemetrexed and carboplatin. Five months post-operation, the disease progressed with left adrenal metastasis and mediastinal adenopathy. An adrenalectomy was performed, followed by whole exon sequencing (WES). SMARCA4, SMARCA2 and SMARCA1 gene mutations were detected in this case. Given a tumor proportion score (TPS) of 60% for programmed death-ligand 1(22C3)immunoexpression and high TMB(361.32 muts/Mb), a combination of Pembrolizumab plus anlotinib was initiated as a second-line approach. After 46 cycles, the patient demonstrated no disease progression with a PR lasting 31 months and long progression-free survival(PFS) of 43 months. The lung tumor was initially detected in September 2020, and the patient remained alive at the latest follow-up in November 2024. This case offers a long-term follow-up of the effectiveness and safety of combining pembrolizumab and anlotinib in advanced SMARCA4-UT, and substantiates the role of long-term immunotherapy in preventing radiographic/clinical recurrence following surgery. This case illustrates new potential efficacy of immunotherapy in combination with surgery as a treatment approach of SMARCA4-UT.
Comprehensive diagnostic and therapeutic approaches to uterine teratoma in postmenopausal women: a case study and review
Authors: Pan Wenwei , Lan Jun , Tang Zihao , Li Taikang , Ma Xinping
Published: December 2024

Background and objective

Uterine teratomas are extremely rare in postmenopausal women and pose significant challenges in diagnosis and treatment. This study reports a case of a 54-year-old postmenopausal woman diagnosed with a uterine teratoma during a routine gynecological ultrasound. The study aims to explore the diagnosis and treatment of uterine teratomas in postmenopausal women through detailed imaging assessment and hysteroscopy surgery, aiming to enhance the understanding of this rare uterine tumor and improve patient treatment outcomes and quality of life.

Methods

This study utilized hysteroscopic surgery to excise a mass initially suspected to be a uterine fibroid and performed pathological analysis. The analysis revealed the presence of fat and hair, confirming the diagnosis of a mature benign uterine teratoma. Additionally, the study includes a literature review summarizing the clinical characteristics, diagnostic methods, and treatment strategies for uterine teratomas.

Results

Hysteroscopic surgery effectively identified and removed the complex uterine teratoma. Pathological analysis confirmed the teratoma contained various mature tissues, including neural tissue, bone, and cartilage. Comparative analysis of imaging features with surgical outcomes helped propose more precise diagnostic criteria and treatment guidelines.

Conclusion

Hysteroscopy surgery plays a crucial role in diagnosing uterine teratomas in postmenopausal women and showcases its advantages of minimal trauma and quick recovery in treatment. In addition, the literature review emphasizes the diagnostic challenges of uterine teratomas in clinical practice, particularly in expanding clinical awareness of the differences between premenopausal and postmenopausal presentations. It also summarizes the diagnostic and treatment strategies for rare uterine masses, contributing to the improved recognition of these rare cases.
Successful conversion surgery after comprehensive therapy in a patient with MSI-H but pMMR metastatic gastric mixed adenoneuroendocrine carcinoma: a case report and literature review
Authors: He Jun , Wang Li , Tuo Chuanlei , Gong Weihua , Liu Yong
Published: December 2024

Gastric mixed adenoneuroendocrine carcinoma (MANEC) is a rare and highly aggressive malignancy characterized by both exocrine and neuroendocrine components. Treatment options for metastatic cases are limited, with typical therapeutic approaches involving a combination of chemotherapy and immunotherapy. A 68-year-old male with metastatic gastric MANEC was treated with targeted therapy, immunotherapy, and chemotherapy, including S-1, apatinib, cadonilimab, and paclitaxel. After six cycles, the liver metastases resolved completely, and the primary tumor achieved partial remission, leading to conversion surgery. The patient underwent a radical D2 gastrectomy with R0 resection, including proximal gastrectomy, splenectomy, omentectomy, and esophagogastric anastomosis, along with radiofrequency ablation of liver metastases. Postoperative pathology confirmed the disappearance of liver metastases but revealed residual adenocarcinoma in the primary gastric lesion and neuroendocrine components in the perigastric lymph nodes. The patient was discharged seven days post-surgery. Five months postoperatively, new liver metastases were detected, exhibiting neuroendocrine differentiation. The patient was subsequently treated with a maintenance regimen of S-1 and pembrolizumab. This case highlights the significant heterogeneity of gastric MANEC and the challenges in managing such cases. While conversion surgery can be effective in certain contexts, the high likelihood of postoperative recurrence and metastasis, particularly in neuroendocrine components, necessitates cautious consideration. Further research is needed to evaluate the long-term benefits of conversion surgery in metastatic gastric MANEC and to develop tailored therapeutic strategies.
Case report: Combination therapy for hepatocellular carcinoma with inferior vena cava or right atrial tumor thrombus in the era of combined targeted and immunotherapeutic agents
Authors: Hai Yubin , Lin Tingting , Wang Guangyi , Sun Xiaodong , Wang Lan , Hai Yuying , Chen Saisai , Shi Xiaoju
Published: December 2024

Primary liver cancer, predominantly hepatocellular carcinoma (HCC), is a leading cause of cancer-related mortality. Tumor thrombus (TT) in the inferior vena cava (IVC) or right atrium (RA) significantly worsens prognosis. We present four cases of male patients (average age 57) with HCC and TT extending into the IVC/RA, treated at our center. All underwent hepatectomy and TT resection, with targeted therapy (lenvatinib) and immunotherapy (sintilimab) administered post-operatively. Case 1 involved a 59-year-old male who had a right hepatectomy and TT resection in the IVC, followed by targeted therapy and immunotherapy, and is currently alive 74 months post-treatment. Case 2, a 48-year-old male, had a right hepatic lobectomy and TT resection in the IVC/RA, followed by liver transplantation 54 months postoperatively, with no recurrence. Case 3, a 66-year-old male, underwent a left hepatectomy and TT resection in the IVC, remaining disease-free 27 months postoperatively. Case 4, a 55-year-old male, received 15 cycles of combined targeted and immune therapy, followed by left hepatectomy and TT resection in the IVC/RA, with no recurrence 22 months postoperatively. Surgical resection combined with targeted and immunotherapy may enhance survival in advanced HCC patients with TT in the IVC/RA. Further studies are required to corroborate these findings.
Ultrasound findings of fibroepithelial polyp in the fetal bladder: a case report
Authors: Chen Xin , Luo Hong
Published: December 2024

Fibroepithelial polyps are rare benign tumors originating from the mesoderm and are more commonly found in the renal pelvis and distal ureter and less frequently in the proximal ureter or bladder. This case report presents a fibroepithelial polyp occurring in the bladder of the fetus, showcasing its two-dimensional ultrasound, three-dimensional ultrasound, color Doppler, and spectral Doppler ultrasound findings, providing a reference for the accurate diagnosis of this condition.
Newly emerged ROS1 rearrangement in a patient with lung adenocarcinoma following resistance to immune checkpoint inhibitors: a case report
Authors: Wang Jian , Liu Bingyue , Zheng Qinhong , Xiao Ruoshui , Chen Jianxin
Published: December 2024

Background

ROS1, a member of the sevenless subfamily of tyrosine kinase insulin receptors, promotes tumor cell survival, proliferation, and metastasis by activating the JAK/STAT, PI3K/AKT, and MAPK/ERK pathways. It only accounts for about 2% of total NSCLC cases. No cases of acquired ROS-1 rearrangement have been reported worldwide.

Case presentation

We reported a case of lung adenocarcinoma without driver alteration that developed resistance to pembrolizumab and newly emerged CD74-ROS1 fusion, and achieved a partial response after entrectinib treatment.

Conclusions

We hypothesize that the newly emerged ROS1 rearrangement occurs as the subset of cells harboring ROS1 gradually becomes the predominant pathological type of adenocarcinoma following pembrolizumab treatment. We propose that new therapeutic targets may emerge for this patient population following long-term immunotherapy. Thus, we advocate for regular monitoring of tumor genetic status, which could yield unexpected benefits.
Primary pulmonary hyalinizing clear cell carcinoma with EWSR1 gene translocation: a case report
Authors: Jian Can-hui , Luo Shuai , Wang Jin-jing
Published: December 2024

Background

Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is a rare type of primary salivary gland-type tumor of the lung. HCCC is characterized by unique pathological features, including nests, cords, or trabeculae of clear or eosinophilic tumor cells infiltrating a mucinous or hyalinized stroma. Additional analyses of this carcinoma have revealed positive epithelial markers via immunophenotyping and EWSR1 gene translocation through genetic testing. However, the morphology of HCCC has been found to change during bronchoscopic biopsy, suggesting certain challenges for its clinical diagnosis and treatment.

Case presentation

A 47-year-old female patient presented with a 2-month history of cough, sputum production, and dyspnea. A chest CT scan found a nodular soft tissue density shadow in the lower segment of the trachea. Subsequently, the patient underwent tumor resection via combined flexible and rigid bronchoscopy. Postoperative pathological examination, including immunohistochemistry and molecular testing, confirmed an EWSR1 gene translocation. The final pathological diagnosis was primary pulmonary HCCC. A follow-up at 6 months post-surgery showed mediastinal lymph node metastasis.

Conclusions

Primary pulmonary HCCC is an extremely rare, low-grade malignant epithelial tumor of the lung, which has a notably difficult clinical diagnosis and treatment due to the absence of a standard treatment protocol. This case report presents a patient with primary pulmonary HCCC confirmed by molecular testing, aiming to raise awareness about this tumor among physicians and provide valuable clinical references.
Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease
Authors: Ma Jingyu , Hu Zhijuan , Liu Qiong , Li Jing , Li Jiejie
Published: December 2024

Background

Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by REN-causing pathogenic variants (ADTKD-REN) is a rare group of heritable diseases. ADTKD-REN often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-REN remains challenging.

Case presentation

We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G>A;p.Cys362Tyr (not previously reported in the literature) through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease, he was diagnosed with ADTKD.

Conclusion

This case identified a new variant in the REN gene, expanding the known spectrum of REN pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.
The prevalence of Mycoplasma pneumoniae in children in Shandong, China before, during, and after COVID-19
Authors: Kong Wenna , Wang Qianqian , Zhuo Jinhua , Zhuang Xuewei
Published: December 2024

Background

The multifaceted non-pharmaceutical interventions after the outbreak of the COVID-19 pandemic not only limited the spread of SARS-CoV2 but also had an impact on the prevalence of other pathogens.

Methods

In this work, we retrospectively analyzed the epidemiological characteristics of Mycoplasma pneumoniae (MP) in children before and after the COVID-19 pandemic in Shandong, China. From 2019–2023, there were 29,558 visits of pediatric patients (1 month to 15 years old) with respiratory tract infection (RTI) symptoms at a tertiary hospital in Shandong Province, 10,039 of which were positive for MP according to a passive agglutination assay of the serum IgM antibodies. Conduct statistical analysis and epidemiological investigation of the test results categorized by years, months, ages, genders and clinical diagnosis. Utilize the χ2 test to analyze the differences in incidence rates.

Results

Compared to 2019, the number of visits and the positive cases both decreased substantially in 2020, but the positivity rate increased. Both 2021 and 2023 were peak years of MP infection. The peak seasons of MP infection were fall and winter, female patients had higher positivity rate than male patients, and school-age children (>6 years) had higher positivity rate than the children in other age groups. In terms of the clinical manifestation of MP infection, compared to 2019, in 2023, the proportion of bronchopneumonia and upper RTI decreased significantly.

Conclusions

The ongoing surveillance of the epidemiology of MP is critical for effective disease management and provides a basis for diagnosis, treatment, and the corresponding prevention and control strategies. This work for the first time characterized the epidemiology of MP in Shandong before and after the COVID-19 pandemic, thus providing valuable information for monitoring and preventing MP infection in the post-epidemic era.
Paroxysmal sympathetic hyperactivity syndrome caused by Streptococcus intermedius meningoencephalitis in children: a case report and literature review
Authors: Huang Qiuling , Zhou Ruoyi , Zhang Yean , Li Jie , Yu Feng
Published: December 2024

Introduction and importance

Paroxysmal sympathetic hyperactivity (PSH) syndrome often occurs with severe traumatic brain injury. However, it can also occur during infections, such as severe bacterial meningoencephalitis in children. Streptococcus intermedius is an aggressive, virulent, opportunistic pathogen. This species can cause meningoencephalitis in children, as reported in a few cases.

Case information

A five-year-old boy with no relevant past medical history was admitted to a hospital because of a fever and progressive disturbance of consciousness. His head computed tomography scan and magnetic resonance imaging revealed extensive brain damage and an intraventricular abscess. A next-generation sequencing technology test performed on his cerebrospinal fluid revealed that the child's meningoencephalitis was caused by S. intermedius. During treatment, the child had clinical manifestations such as fever, tachycardia, tachypnea, diaphoresis, and hypertension. Changes in muscle tone and abnormal posture, which were misdiagnosed as epilepsy at the early treatment stage, were also observed; however, anti-epileptic treatment was ineffective. The child was diagnosed with PSH and received the appropriate treatment, and his symptoms eventually improved.

Conclusions

To our knowledge, this is the first case report on PSH induced by S. intermedius meningoencephalitis. Early identification, diagnosis, and treatment of PSH are crucial.
Case Report: A review of two children with deep sternal wound infections after precordial surgery treated with a simple negative pressure closed drainage technique
Authors: Jiang Yao , He Shan
Published: December 2024

Deep sternal wound infection (DSWI) is a rare but potentially devastating complication of median sternotomy performed in cardiac surgery. This report summarizes the nursing management of two pediatric cases with a DSWI treated using Do It Yourself (DIY) negative pressure suction (DIY-NPS) after surgery. The technique maintains a continuous suction pressure of 75 mmHg and intermittently flushes small volumes of fluid to stimulate granulation tissue formation and control systemic infection. After the formation of fresh granulation tissue, both patients achieved successful wound healing and were discharged in good condition.