bluuebunny/crossref_metadata_2025 huggingface dataset:
Efficacy analysis of electroacupuncture plus TDP in the treatment of peripheral facial paralysis: a systematic review and meta-analysis
Authors: Gao Hua-Wei , Xia Qing-Chang , Li Zhi-Hong , Chen Wei , Lu Yan
Published: November 2024

Objective

This study intends to carry out a systematic review and meta-analysis of electroacupuncture combined with TDP in the treatment of peripheral facial paralysis.

Methods

CNKI, VIP, Wanfang, PubMed, Embase and Cochrane databases were searched for literatures on randomized or quasi-randomized controlled trials of electroacupuncture combined with TDP in the treatment of peripheral facial paralysis, and the references of the included studies were searched. Meta-analysis was performed using Stata15.0 software after risk of bias, quality assessment, and data extraction of the included articles by two reviewers independently.

Results

Fifteen articles were finally included, with approximately 1,568 participants (920 in the treatment group and 648 in the control group). Meta-analysis showed that the effective rate of electroacupuncture combined with TDP in the treatment of peripheral facial paralysis was not significantly different from other treatment methods ([RR = 1.05, 95%CI (0.97, 1.12), p = 0.226]), and the recovery rate was better than other treatment methods ([RR = 1.14, 95%CI (1.05, 1.24), p = 0.002]). Subgroup analysis showed that when stratified by the inclusion of minors in the study population, it was observed that in studies including minors, the combination of electroacupuncture and TDP therapy demonstrated superior efficacy in treating peripheral facial paralysis compared to other therapeutic modalities [OR = 1.14, 95% CI (1.03, 1.25), p = 0.011]. Conversely, in studies where the population comprised solely adults, no significant difference was found between the combination therapy and other treatments [OR = 1.15, 95% CI (0.99, 1.33), p = 0.059]; whether electroacupuncture alone or other treatment methods, the recovery rate of electroacupuncture combined with TDP in the treatment of peripheral facial paralysis was better than other methods.

Conclusion

Electroacupuncture combined with TDP is superior to other treatment methods in the treatment of peripheral facial paralysis.
Clinical predictors of causative radiographic findings in adults with acute onset diplopia
Authors: Son Yubin , Suh Hie Bum , Choi Hee-young , Cabrera Michelle T. , Jeon Hyeshin
Published: November 2024

Objective

This study aimed to investigate the clinical factors that predict abnormal radiographic findings in adults with acute onset binocular diplopia.

Methods

Medical records of consecutive patients aged >20 years who presented with acute binocular diplopia were retrospectively reviewed. Patients were divided into positive and negative groups according to radiographic findings. Demographic and clinical characteristics were compared. The risk factors for positive radiographic findings were investigated, and the area under the receiver operating characteristic curve (AUC) was calculated.

Results

Among 242 patients (145 males and 97 females), 44 (18.2%) were in the positive group and 198 (81.8%) in the negative group. Patients in the positive group were older (p = 0.005) and had more vasculopathic risk factors (p = 0.038). Severe duction limitation (>50% reduction in motility) was present in 90.9% of patients in the positive group and 56.1% in the negative group (p < 0.001). Abnormal slit lamp findings and pupillary exam abnormalities were also more frequent in the positive group than in the negative group (p = 0.027 and p = 0.036, respectively). Older age, higher intraocular pressure, abnormal slit-lamp findings, exophthalmos, and duction limitation were identified as risk factors for positive radiographic findings. A predictive model generated an AUC of 0.772.

Conclusion

Older age and vasculopathic risk factors were associated with underlying radiographic pathologies, supporting the recommendation that neuroimaging should not be delayed in those patients. Careful ophthalmic evaluations may guide diagnosis and decision-making for immediate neuroimaging in cases of diplopia.
Acquisition of a new language: an enriched case study documents language growth without external input in a young Korean child’s acquisition of English
Authors: Lust Barbara , Flynn Suzanne , Kim Ahyoung Alicia
Published: November 2024

This paper explores a case of suspension of data input during the acquisition of a second language by a young Korean child acquiring English in an English-only nursery school in the United States. Data suspension occurred naturally when the child returned to Korea for a summer where only Korean was spoken. Systematic investigations using an enriched case study methodology which assessed the nature of the child’s English target language acquisition both before and after the Korean Summer revealed significant advances in his English after the Korean Summer despite the absence of English input during this time. Several hypotheses regarding the nature and explanation of this advance are tested. It is argued that significant internal linguistic integration leading to systematization of linguistic knowledge occurred in the absence of synchronous language data input, demonstrating the significance of internal computational processes over and above language data input in the language acquisition process. Results have implications for understanding the fundamental nature of language acquisition.
Comprehensive analysis of supervised learning methods for electrical source imaging
Authors: Reynaud Sarah , Merlini Adrien , Ben Salem Douraied , Rousseau François
Published: November 2024

Electroencephalography source imaging (ESI) is an ill-posed inverse problem: an additional constraint is needed to find a unique solution. The choice of this constraint, or prior, remains a challenge for most ESI methods. This work explores the application of supervised learning methods for spatio-temporal ESI, where the relationship between measurements and sources is learned directly from the data. Three neural networks were trained on synthetic data and compared with non-learning based methods. Two distinct types of simulation, each based on different models of brain electrical activity, were employed to quantitatively assess the generalization capabilities of the neural networks and the impact of training data on their performances, using five complementary metrics. The results demonstrate that, with appropriately designed simulations, neural networks can be competitive with non-learning-based approaches, even when applied to previously unseen data.
Interest paradigm for early identification of autism spectrum disorder: an analysis from electroencephalography combined with eye tracking
Authors: Sun Binbin , Calvert Elombe Issa , Ye Alyssa , Mao Heng , Liu Kevin , Wang Raymond Kong , Wang Xin-Yuan , Wu Zhi-Liu , Wei Zhen , Kong Xue-jun
Published: November 2024

Introduction

Early identification of Autism Spectrum Disorder (ASD) is critical for effective intervention. Restricted interests (RIs), a subset of repetitive behaviors, are a prominent but underutilized domain for early ASD diagnosis. This study aimed to identify objective biomarkers for ASD by integrating electroencephalography (EEG) and eye-tracking (ET) to analyze toddlers’ visual attention and cortical responses to RI versus neutral interest (NI) objects.

Methods

The study involved 59 toddlers aged 2-4 years, including 32 with ASD and 27 non-ASD controls. Participants underwent a 24-object passive viewing paradigm, featuring RI (e.g., transportation items) and NI objects (e.g., balloons). ET metrics (fixation time and pupil size) and EEG time-frequency (TF) power in theta (4-8 Hz) and alpha (8-13 Hz) bands were analyzed. Statistical methods included logistic regression models to assess the predictive potential of combined EEG and ET biomarkers.

Results

Toddlers with ASD exhibited significantly increased fixation times and pupil sizes for RI objects compared to NI objects, alongside distinct EEG patterns with elevated theta and reduced alpha power in occipital regions during RI stimuli. The multimodal logistic regression model, incorporating EEG and ET metrics, achieved an area under the curve (AUC) of 0.75, demonstrating robust predictive capability for ASD.

Discussion

This novel integration of ET and EEG metrics highlights the potential of RIs as diagnostic markers for ASD. The observed neural and attentional distinctions underscore the utility of multimodal biomarkers for early diagnosis and personalized intervention strategies. Future work should validate findings across broader age ranges and diverse populations.
Palmitoylethanolamide causes dose-dependent changes in brain function and the lipidome
Authors: Balaji Shreyas , Woodward Taylor J. , Richter Emily , Chang Arnold , Otiz Richard , Kulkarni Praveen P. , Balaji Kaashyap , Bradshaw Heather B. , Ferris Craig F.
Published: November 2024

The present studies were undertaken to understand the effects of the commonly used nutraceutical PEA on brain function and lipid chemistry. These studies using MRI and broad-scale lipidomics are without precedent in animal or human research. During the MRI scanning session awake rats were given one of three doses of PEA (3, 10, or 30 mg/kg) or vehicle and imaged for changes in BOLD signal and functional connectivity. There was an inverse dose–response for negative BOLD suggesting a decrease in brain activity affecting the prefrontal ctx, sensorimotor cortices, basal ganglia and thalamus. However, there was a dose-dependent increase in functional connectivity in these same brain areas. Plasma and CNS levels of PEA and over 80 endogenous lipids (endolipids) were determined post treatment. While levels of PEA in the CNS were significantly higher after 30 mg/kg treatment, levels of the endocannabinoid, Anandamide, and at least 20 additional endolipids, were significantly lower across the CNS. Of the 78 endolipids that were detected in all CNS regions evaluated, 51 of them were modulated in at least one of the regions. Taken together, the functional connectivity and lipidomics changes provide evidence that PEA treatment drives substantial changes in CNS activity.
Derivation of a comprehensive semi-empirical proton RBE model from published experimental cell survival data collected in the PIDE database
Authors: Jin Jian-Yue , Yuan Jiankui , Qin Xiaohang , Li Yinghui , Yan Huagang , Oleinick Nancy L. , Yao Min , Pan Quintin , Kong Feng-Ming (Spring) , Machtay Mitchell
Published: November 2024

We aimed to develop a comprehensive proton relative biological effectiveness (RBE) model based on accumulated cell survival data in the literature. Our approach includes four major components: (1) Eligible cell survival data with various linear energy transfers (LETs) in the Particle Irradiation Data Ensemble (PIDE) database (72 datasets in four cell lines); (2) a cell survival model based on Poisson equation, with α and β defined as the ability to generate and repair damage, respectively, to replace the classic linear–quadratic model for fitting the cell survival data; (3) hypothetical linear relations of α and β on LET, or α(LET)αx=αα+bα ∗ LET and β(LET)βx=αβ−bβ ∗ LET; and (4) a multi-curve fitting (MCF) approach to fit all cell survival data into the survival model and derive the aα, bα, aβ, and bβ values for each cell line. Dependences of these parameters on cell type were thus determined and finally a comprehensive RBE model was derived. MCF showed that (aα, bα, aβ, bβ) = (1.09, 0.0010, 0.96, 0.033), (1.10, 0.0015, 1.03, 0.023), (1.12, 0.0025, 0.99, 0.0085), and (1.17, 0.0025, 0.99, 0.013) for the four cell lines, respectively. Thus, aα = 1.12 ± 0.04, bα = 0.0019 ± 0.0008, aβ = 0.99 ± 0.03, and bβ = 0.013 ∗ αx, and approximately α∼1.12∗αx and β=(0.99−0.013∗αx∗LET)∗βx. Consequently, a relatively reliable and comprehensive RBE model with dependence on LET, αx, βx, and dose per fraction was finally derived for potential clinical application.
Knowledge landscape of Treg research in breast cancer: a bibliometric and visual analysis
Authors: Wu Zankai , Zhang Yanting , Gong Yiping , Hu Jin
Published: November 2024

Background

Regulatory T (Treg) cells play a strategic role in maintaining immune homeostasis and their functions are closely linked to the development of different diseases, including cancer. This study aims to investigate the evolution patterns and popular research topics of Treg cells through bibliometric analysis.

Method

The Web of Science Core Collection database was used to extract publications related to Treg cells, which were then subjected to bibliometric analysis and visualization through VOSviewer, CiteSpace, and R software.

Results

Between 2003 and 2023, a total of 666 articles were published. China and the United States had the highest citation counts, with Fudan University, Shanghai Jiao Tong University, and Tarbiat Modares University being the leading research institutions. Beckhove Philipp from the German Cancer Research Center and the National Center for Tumor Diseases in Heidelberg, and Christophe from the Cancer Research Center of Lyon, were the most prolific authors. Sakaguchi Shimon from the Immunology Frontier Research Center at Osaka University was the most cited author. “Frontiers in Immunology” published the most articles, while “Journal of Immunology” received the highest co-citations. Key terms in Treg research include immunotherapy, tumor microenvironment, prognosis, immunosuppression, and PD-L1. Among these, immunotherapy, prognosis, PD-L1, and immunosuppression have emerged as focal points of research in recent years.

Conclusion

With active collaboration worldwide, research on Treg cells is rapidly advancing. Focusing on Treg cells as a potential target for cancer treatment shows great promise for future research, especially in terms of practical applications. This could offer valuable direction and fresh perspectives for further exploration of Treg cells in the medical field.
Investigating the impact of non-standard positioning on the accuracy of skull tracking algorithms using dual-panel imaging systems
Authors: Huang He , Zhang Lian , Bian Yunfei , Dong Yang , Lin Hongyu , Xu Hui , Li Ying
Published: November 2024

Objective

This study investigates the impact of non-standard positioning on the accuracy of 6D-skull tracking using dual-panel imaging systems. It explores whether positioning patients’ heads at various angles during intracranial lesion treatment affects the accuracy of the CyberKnife 6D-skull tracking system.

Materials and methods

A heterogeneous density skull phantom was used to simulate various patient skull positioning angles. To accurately compare 6D-skull tracking and fiducial tracking, their center coordinates were pre-set to be identical in the treatment plan. The phantom was positioned using fiducial tracking, and the offset value recorded. The system was then switched to 6D-skull tracking to observe the corresponding offset. The difference between the two tracking methods was calculated, and a paired-sample T-test was conducted to assess statistical significance across different angles. Additionally, the gamma passing rate (criteria: 3%/3mm) was employed to quantitatively delineate dosimetric disparities attributable to positional variations.

Results

Paired sample T-tests on the deviations between rotational and translational parameters of fiducial tracking and skull tracking under identical conditions revealed no statistically significant differences between the methods across all selected angles. The minimal deviations and lack of statistical significance demonstrate that both tracking methods are equivalent in skull positioning. Furthermore, the gamma passing rate analysis showed that in all tested conditions, the rates exceeded 95%, which aligns with clinical requirements. This high passing rate indicates a high degree of dosimetric accuracy and consistency between the two tracking methods, providing robust assurance of treatment precision in skull positioning.

Conclusion

Since fiducial tracking is not affected by patient or phantom positioning, this study compares the registration results of 6D-skull tracking with fiducial tracking under the same conditions. The results show minimal deviations and no statistically significant differences, indicating that 6D-skull tracking is not dependent on the skull’s positioning angle. Furthermore, the gamma passing rate analysis was conducted to quantitatively assess the dosimetric differences arising from variations in patient positioning. Our results demonstrated that under all tested conditions, the gamma passing rates exceeded the clinically accepted threshold of 95%, confirming the clinical adequacy of both tracking methods in maintaining treatment precision. In clinical practice, patients do not need to maintain a strict supine position; the algorithm can accurately perform registration even if patients need to rotate their heads or lie prone. Clinical recommendations should prioritize patient comfort and safety without imposing overly strict requirements.
Dosimetric scorecards express precise clinical intent: alternate hippocampal-sparing whole-brain RapidPlan models favoring target coverage and homogeneity at 30 and 20 Gy
Authors: Rayn Kareem , Magliari Anthony , Clark Ryan , Rosa Lesley , Doucet Robert , Comeau Line , Nichol Alan , Ruo Russell , Roberge David
Published: November 2024

Introduction

This study develops two new multi-institutional hippocampal-sparing whole-brain RapidPlan™ models (HLS-EC-WB and HMS-EC-WB) inspired by CCTG-CE.7 featuring enhanced target coverage with varying hippocampal sparing (limited and moderate).

Methods

New dosimetric scorecards were created to quantify the models’ clinical intent. The models were trained using a multi-institution dataset, and a recursive method was employed to generate consistent, high-quality plans. The models were validated using a five-case set and compared at 20- and 30-Gy prescriptions.

Results

Each model scored highest on its associated dosimetric scorecard. The new models achieved higher brain PTV prescription coverage (98%–99%) compared to the previous HSWBv2 model (95.12%), with some trade-off in hippocampal sparing.

Conclusions

Three high-quality automated RapidPlan™ models for hippocampal-sparing whole brain are now available, each with a distinct dosimetric scorecard. The new models prioritize increased PTV coverage at some expense to hippocampal sparing. All models, example plans, scorecards, and scoring tools are freely available online.
Sustained yet non-curative response to lenalidomide in relapsed angioimmunoblastic T-cell lymphoma with acquired chidamide resistance: a case report with 10-year follow-up, genetic insights and literature review
Authors: Xu Juan , Huang Jie , Xie Liping , Liu Ting , Li Jianjun , Chen Xinchuan , Liu Zhigang , Zhao Sha , Xu Caigang , Wu Yu
Published: November 2024

Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive subtype of peripheral T-cell lymphoma (PTCL) characterized by its T-follicular helper (TFH) phenotype. Relapsed and refractory disease is common in AITL and often associated with a poor prognosis. The presence of epigenetic abnormalities, immune dysregulation, hyperinflammation and active angiogenesis in AITL offers potential targets for histone deacetylase (HDAC) inhibitors and immunomodulatory drugs (IMiDs). Herein, we present a case of AITL with multiple relapses over a decade. Following intensive chemotherapy and autologous stem cell transplantation (ASCT), the patient relapsed with extensive nodal and extranodal involvement, particularly pulmonary lesions, and subsequently pursued chemo-free treatments. Initially, the patient exhibited a remarkable response to single-agent chidamide, the first oral HDAC inhibitor. Soon after developing resistance to chidamide, continuous treatment with lenalidomide led to an impressive sustained complete remission lasting 64 months, followed by a diminished response for an additional 11 months. Genetic profiling of the patient revealed mutations in KMT2D and ARID1A, along with chromosomal aberrations such as del(5q). Notably, genes commonly mutated in AITL, including RHOA, TET2, DNMT3A, and IDH2, were absent in this case. A review of the literature highlights the heterogeneous genomic landscape of AITL and the diversity of treatment options available, underscoring the importance of tailored approaches to overcome resistance and improve outcomes in this distinct lymphoma subtype.
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1
Authors: Wallen Zachary D. , Nesline Mary K. , Tierno Marni , Roos Alison , Schnettler Erica , Husain Hatim , Sathyan Pratheesh , Caveney Brian , Eisenberg Marcia , Severson Eric A. , Ramkissoon Shakti H.
Published: November 2024

Introduction

Matching patients to an effective targeted therapy or immunotherapy is a challenge for advanced and metastatic non-small cell lung cancer (NSCLC), especially when relying on assays that test one marker at a time. Unlike traditional single marker tests, comprehensive genomic profiling (CGP) can simultaneously assess NSCLC tumors for hundreds of genomic biomarkers and markers for immunotherapy response, leading to quicker and more precise matches to therapeutics.

Methods

In this study, we performed CGP on 7,606 patients with advanced or metastatic NSCLC using the Illumina TruSight Oncology 500 (TSO 500) CGP assay to show its coverage and utility in detecting known and novel features of NSCLC.

Results

Testing revealed distinct genomic profiles of lung adenocarcinoma and squamous cell carcinomas and detected variants with a current targeted therapy or clinical trial in >72% of patient tumors. Known associations between genomic alterations and immunotherapy markers were observed including significantly lower TMB levels in tumors with therapy-associated alterations and significantly higher PD-L1 levels in tumors with ALK, MET, BRAF, or ROS1 driver mutations. Co-occurrence analysis followed by network analysis with gene module detection revealed known and novel co-occurrences between genomic alterations. Further, certain modules of genes with co-occurring genomic alterations had dose-dependent relationships with histology and increasing or decreasing levels of PD-L1 and TMB, suggesting a complex relationship between PD-L1, TMB, and genomic alterations in these gene modules.

Discussion

This study is the largest clinical study to date utilizing the TSO 500. It provides an opportunity to further characterize the landscape of NSCLC using this newer technology and show its clinical utility in detecting known and novel facets of NSCLC to inform treatment decision-making.
Long-term outcomes of induction chemotherapy followed by concurrent chemoradiotherapy and adjuvant chemotherapy for locoregionally advanced nasopharyngeal carcinoma: a retrospective study
Authors: Zhao Xiaoyan , Tian Ling , Chen Yun , Yang Qing , Xie Tao , Chen Modong , Rao Jinhui , Yang Meng , Huang Ning , Ren Yanxin
Published: November 2024

Background

Nasopharyngeal carcinoma (NPC) is a prevalent form of head and neck cancer, particularly in specific regions with a higher incidence. The optimal treatment strategy for locally advanced NPC (stage III and IVA, LA-NPC) involves various combinations of induction chemotherapy (IC), concurrent chemoradiotherapy (CCRT), and adjuvant chemotherapy (AC), each with distinct advantages. This one institutional study aims to retrospectively analysis the efficacy and clinical outcomes of IC with CCRT (IC+CCRT), CCRT with AC (CCRT+AC), and the comprehensive approach of IC followed by CCRT and subsequently AC (IC+CCRT+AC) in the management of LA-NPC.

Materials and methods

A total of 352 LA-NPC patients were included: 173 accepted IC+CCRT, 60 received CCRT+AC, and 119 underwent IC+CCRT+AC. The primary endpoints including overall survival (OS) and progression-free survival (PFS), were assessed using the Kaplan-Meier method and log-rank test.

Results

The median follow-up was 61.2 months (1-216 months). There was no significant difference in 5-year OS and PFS between IC group and no IC group, extending the observation time to 90 months, the OS and PFS were significantly better in IC group than no IC group (OS: 76% vs. 70%,P<0.05; PFS: 76% vs. 71%, P<0.05). Patients with 1, 2, or 3 cycles of IC had higher 5-year OS and PFS than those with more than 3 cycles (1-4 cycles IC OS: 89% vs. 87% vs. 88% vs. 79%, P<0.05; 1-4 cycles IC PFS: 87% vs. 85% vs. 85% vs. 70%, P<0.05). NP regimen demonstrated higher OS and PFS than TP, PF, and TPF regimens (OS: 95% vs. 82% vs. 85% vs. 71%, P<0.05; PFS: 93% vs. 83% vs. 81% vs. 80%, P<0.05). The 5-year OS and PFS were significantly better in AC group than no AC group (OS: 82% vs. 72%, P<0.05; PFS: 81% vs. 69%, P<0.05). In the AC group, there was no differential effect of chemotherapy cycles and chemotherapy regimens on patients’ OS and PFS. In the ThNh group, patients receiving IC+CCRT+AC had higher OS and PFS compared to those receiving IC+CCRT, with no significant difference in the rest (OS: 85% VS 66% P<0.05; PFS: 78% VS 62%, P<0.05).

Conclusion

CCRT combined with IC or AC could benefit LA-NPC patients. The IC+CCRT +AC regimen was most beneficial for NPC patients with later T and N stages.
Multimodal imaging diagnosis of pancreatic Castleman disease with abdominal and retroperitoneal lymphadenopathy: a case report and literature review
Authors: Jin Chunchun , Deng Meifang , Zhang Jing , Lu Jianghao , Hao Yanli
Published: November 2024

Introduction

Castleman’s disease (CD) represents a rare polyclonal lymphoproliferative disorder characterized by atypical lymph node hyperplasia, the precise etiology of which remains undefined. Pancreatic involvement of CD is particularly uncommon and often misdiagnosed due to its nonspecific clinical features, making it difficult to distinguish from tumors with abundant blood supply such as solid pseudopapillary tumors and neuroendocrine tumors. Multimodal imaging plays a crucial role in diagnosing pancreatic CD and determining the extent of lymph node involvement. Surgical resection is the preferred treatment for unicentric CD (UCD). Regular follow-up and monitoring are essential for optimal patient management and treatment outcomes.

Case Presentation

A 26-year-old female presented to our hospital with a pancreatic mass detected during a routine health examination. Physical and laboratory examinations were unremarkable. Conventional ultrasound revealed a hypoechoic, oval-shaped mass measuring approximately 34×31 mm in the pancreatic head, with clear boundaries and heterogeneous internal echoes, but no significant blood flow signals. Contrast-enhanced ultrasound showed hyperenhancement of the pancreatic head mass, raising suspicion for a solid pseudopapillary tumor or other entities. To clarify the diagnosis, Contrast enhanced CT, MRI, and FDG PET-CT were performed. Both Contrast enhanced CT and MRI demonstrated hyperenhancement of the lesion, and PET-CT showed hypermetabolism in the pancreatic head mass, along with multiple enlarged lymph nodes in the abdominal and retroperitoneal regions. These findings suggested a lymph node origin for the pancreatic head mass. Surgical resection was performed, and pathological examination confirmed UCD. The patient has been followed for 44 months without recurrence.

Conclusion

This case illustrates the utility of multimodal imaging in diagnosing pancreatic CD. In cases of benign pancreatic lesions with enlarged abdominal and retroperitoneal lymph nodes, CD should be considered.
Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review
Authors: Dang Yinxia , Zhang Juanli , Wang Fan
Published: November 2024

Background

To investigate the clinical phenotype, genetic characteristics, and prognosis of isolated adrenocorticotropic hormone deficiency in a newborn (IAD, OMIM 201400) caused by mutation of the TBX19 gene.

Case presentation

The clinical features, diagnosis, treatment, and prognosis of a newborn with IAD admitted to our hospital were retrospectively analyzed. The patient and his parents were also examined by whole exome sequencing. We used the terms “newborn”, “child”, “congenital isolated adrenocorticotropic hormone deficiency”, and “TBX19” to retrieve relevant studies published up to December 2023 from the following databases: China National Knowledge Infrastructure (CNKI), Wanfang Database, Chinese Medical Journal Full-text Database, VIP database, Sinomed, PubMed, Embase, and Web of Science. The clinical and genetic characteristics of children from these other publications were summarized. The newborn boy with IAD was admitted to our hospital with poor mental response, feeding difficulties, hypoglycemia, and jaundice. The brain and adrenal MRI results were normal. Clinical whole exome sequencing showed that the boy carried compound heterozygous variants in the TBX19 gene. Specifically, the first exon had a novel frameshift mutation, c.240-246del(p.leu81Profs*54, NM_005149.3), and a missense mutation, c.377C>T(p.Pro126leu, NM_005149.3). The literature search found 34 additional cases from 4 Chinese-language articles and 12 English-language articles. The main clinical manifestations were hypoglycemia, jaundice, convulsions, feeding difficulties, poor mental response, hypotonia, and growth retardation. There were 24 cases with TBX19 mutations, and 19 different mutation sites. Among the 15 patients with different degrees of nervous system developmental delays, 13 initiated treatment when more than 1-year-old.

Conclusion

IAD from TBX19 mutation causes nonspecific symptoms. Genetic testing is the key to diagnosis. Early diagnosis and treatment can help to improve the prognosis and prevent neurological complications.

Clinical Trial Registration

identifier (2024A-796).
Efficacy and safety of glucocorticoid combined with cyclophosphamide therapy on membranous nephropathy: a systematic review and meta-analysis
Authors: Feng Chengcheng , Chen Xuexun , Wang Xiangming , Guo Min , Guo Zhentao
Published: November 2024

Background

This review systematically evaluates the efficacy and safety of the combined treatment of glucocorticoids (GC) and cyclophosphamide (CTX) in patients with membranous nephropathy (MN).

Methods

As of June 2024, a comprehensive literature search was performed utilizing several reputable databases, including PubMed, Embase, the Cochrane Library, China National Knowledge Infrastructure (CNKI), and Wanfang. A meta-analysis was then carried out using Review Manager 5.4 and STATA/SE-15 software.

Results

This research evaluated a total of 22 articles involving 1,971 patients. The findings revealed that patients with MN receiving combined GC and CTX therapy had significantly higher complete remission rates (odds ratio = 1.78, p = 0.02) and total remission rates (odds ratio = 2.14, p = 0.01) when the follow-up period exceeded 12 months. Additionally, this treatment demonstrated greater efficacy in lowering serum creatinine levels compared to the control group (standardized mean difference = −0.19, p = 0.04), while its relapse rate was also lower than that of the control group (odds ratio = 0.51, p = 0.009). However, it has a high incidence of serious adverse effects (odds ratio = 2.32, p = 0.03).

Conclusion

Our systematic review highlights that the combination of GC and CTX demonstrates superior long-term effectiveness and reduced relapse rates in managing membranous nephropathy (MN). Furthermore, this drug combination is considered the optimal choice for normalizing serum creatinine levels. Data on the effectiveness and safety of glucocorticoids alone versus other drugs alone, and the treatment of secondary membranous nephropathy (SMN), are limited.

Systematic Review Registration

https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=566477, identifier CRD42024566477.
Contactless and continuous monitoring of respiratory rate in a hospital ward: a clinical validation study
Authors: Toften Ståle , Kjellstadli Jonas T. , Kværness Jørn , Pedersen Line , Laugsand Lars E. , Thu Ole K. F.
Published: November 2024

Introduction

Continuous monitoring of respiratory rate in hospital wards can provide early detection of clinical deterioration, thereby reducing mortality, reducing transfers to intensive care units, and reducing the hospital length of stay. Despite the advantages of continuous monitoring, manually counting every 1–12 h remains the standard of care in most hospital wards. The objective of this study was to validate continuous respiratory rate measurements from a radar-based contactless patient monitor [Vitalthings Guardian M10 (Vitalthings AS, Norway)] in a hospital ward.

Methods

An observational study (clinicaltrials.gov: NCT06083272) was conducted at the emergency ward of a university hospital. Adult patients were monitored during rest with Vitalthings Guardian M10 in both a stationary and mobile configuration simultaneously with a reference device [Nox T3s (Nox Medical, Alpharetta, GA, United States)]. The agreement was assessed using Bland-Altman 95% limits of agreement. The sensitivity and specificity of clinical alarms were evaluated using a Clarke Error grid modified for continuous monitoring of respiratory rate. Clinical aspects were further evaluated in terms of trend analysis and examination of gaps between valid measurements.

Results

32 patients were monitored for a median duration of 42 min [IQR (range) 35–46 (30–59 min)]. The bias was 0.1 and 0.0 breaths min−1 and the 95% limits of agreement ranged from −1.1 to 1.2 and −1.1 to 1.1 breaths min−1 for the stationary and mobile configuration, respectively. The concordances for trends were 96%. No clinical alarms were missed, and no false alarms or technical alarms were generated. No interval without a valid measurement was longer than 5 min.

Conclusion

Vitalthings Guardian M10 measured respiratory rate accurately and continuously in resting patients in a hospital ward.
Floristic diversity and species composition along altitudinal gradient in the alpine ecosystem of the cold desert region in Western Himalaya, India
Authors: Bahukhandi Amit , Sekar K. Chandra , Negi Vikram S. , Bisht Kapil , Tiwari Deep C. , Mehta Poonam , Upadhyay Shashi , Siddiqui Sazada , Ayari-Akkari Amel
Published: November 2024

In India, the Trans-Himalayan zone lies in the rain shadow of the main Himalayan region and is usually described as a “high-altitude cold desert”. These regions are represented by sparse but unique vegetation composition. The present study is an attempt to investigate the vegetation composition in the alpine ecosystem of the cold desert landscape of the Nelang Valley in Western Himalayas (Uttarakhand), India. The result of the study reveals the existence of a total of 68 taxa of higher plants (56 genera and 28 families). These include herbs (51 species), shrubs (13 species), climbers (one species), and trees (three species). Herbaceous species (52 species) contributed the maximum species richness; Artemisia, Astragalus, and Juniperus were the dominant genera, followed by Aster, Lonicera, Oxytropis, Poa, and Salix. The valley showed irregular distribution of plant species richness along the altitudinal gradient, and maximum taxa exhibited between 3,500 m and 3,600 m of altitude band. In the Nelang Valley, the total number of phytodiversity individuals exhibited a significant linear decline with increasing altitude (3,100–4,300 m). Further, the study recorded 33 important medicinal plants used in the traditional system of herbal medicine in the Himalayan region. Juniperus semiglobosa shows dominance with a maximum important value index (IVI) (31.77), followed by Pinus wallichiana (29.19) and Cedrus deodara (10.72) in the treeline ecotone of the valley. Rapid Threat Assessment shows that Artemisia dubia and Artemisia roxburghiana were the most vulnerable herb species in the region. The information thus generated will be useful for suggesting ecological management and conservation planning.
Does sibling family structure matter in the emotion understanding development in preschoolers?
Authors: Aslanova Margarita , Gavrilova Margarita , Iurina Elena
Published: November 2024

The objective of the study was to investigate the impact of sibling family structure —including the number of children, age gaps, presence of a twin, sibling position, and gender composition — on emotion understanding and its development in children aged 5–6 years. A total of 409 preschoolers participated. Emotion understanding was assessed using The Test of Emotion Comprehension at the baseline and then again at a 1-year follow-up. In addition to the primary variables, executive functions (comprising visual and verbal working memory and cognitive flexibility) and non-verbal intelligence were controlled for in the analysis. We used the Dimensional Change Card Sort task to assess cognitive flexibility, the Sentence Repetition and Memory for Designs subtests of NEPSY-II to measure verbal and visual working memory, respectively, and Raven’s Coloured Progressive Matrices to assess non-verbal intelligence. Sibling data were obtained from the parent surveys, while psychological assessments were administered to children by psychologists. While sibling family structure influences emotion understanding, it does not significantly affect its development over a year. A more advanced reflective emotional understanding is associated with higher cognitive flexibility and having a younger sibling, compared to other sibling positions. The results of this study offer additional knowledge for parents, educators, family therapists, and child psychologists seeking a deeper understanding of emotional development in children. These professionals can design interventions and programs that leverage sibling and peer relationships to foster emotional development, encourage collaboration through age-diverse activities, and promote caregiving roles to enhance family and group dynamics.
The relationship between physical activity and psychological sub-health among high altitude region Tibetan college students
Authors: Wang Shoudu , Niu Zhining , Xiong Jianping , Chai Guangxin , Ye Xingli
Published: November 2024

Background

The reduction in moderate to vigorous physical activity (MVPA) and the increased prominence of psychological sub-health (PSH) have had a serious negative impact on the health of Tibetan college students. Few studies have been conducted on college student populations at high altitude region in China. Therefore, the study investigated MVPA and PSH in 8721 Tibetan college students to analyze the relationship that exists between them.

Methods

In this study, subjects were selected by cluster sampling method, and 8,721 high altitude region Tibetan college students were questioned about MVPA, PSH, family situation, BMI, and lifestyle. One-way ANOVA, chi-square test, and stepwise logistic regression analysis were used to analyze the relationship between MVPA and PSH.

Results

The proportion of Chinese Tibetan college students at high altitude region with MVPA duration ≤30 Mins/Day, 31–60 Mins/Day, and ≥ 61 Mins/Day were 76.7, 18.7, and 4.7%, respectively. The proportion of Tibetan college students in China experiencing PSH was 16.41%. The percentage of emotional symptoms, behavioral symptoms, and social adaptation difficulties were 17.61, 18.04, and 14.59%, respectively. Logistic regression analysis showed that after adjusting for relevant covariates, Tibetan college students with MVPA ≤30 Mins/Day had a higher odds ratio of PSH compared to college male students with MVPA ≥61 Mins/Day (OR = 2.95, 95% CI: 1.79,4.84). In contrast, there was no significant relationship between MVPA and PSH in college females. Overall, Tibetan college students with MVPA ≤30 Mins/Day had a higher odds ratio of PSH compared to Tibetan college students with MVPA ≥61 Mins/Day (OR = 2.99, 95% CI: 2.00,4.47).

Conclusion

Chinese Tibetan college students from high altitude region areas had lower levels of MVPA and higher rates of PSH. There is an relationship between MVPA time and PSH among high altitude region Tibetan college students, and the incidence of PSH is higher among high altitude region Tibetan college students with shorter MVPA time.
Determinants of users’ continuance intention of digital museums: a self-regulation perspective
Authors: Zhang Binyuan , Jia Tingting , Zhang Wenhui
Published: November 2024

Driven by modern technological innovations (virtual reality, augmented reality, mixed reality and interactive 3D, etc.), digital museums open up new modes of user visitation through virtual exhibition halls and interactive technologies, thus bridging the gap between the museums and their users for in-depth communication. This study explores the determinants of users’ continuance intention to use digital museums based on Bagozzi’s self-regulation framework. We found that appraisal factors (interaction quality, media richness, and information quality) were strong predictors of emotional reaction (satisfaction and perceived playfulness). In particular, media richness and information quality had significant effects on both satisfaction and perceived playfulness. However, interaction quality only positively affected satisfaction. Both satisfaction and perceived playfulness positively influence users’ continuance intention to use digital museums. These findings enrich the literature on digital museums, offer new perspectives and supplements to existing research on user behavior in digital museums, thereby assisting developers and operators of digital museums in more effectively designing their digital systems and enhancing user experience.
Revitalizing preschool minds: a fresh approach to arts-based brain health interventions
Authors: Siette Joyce , Anderson Emily , Catanzaro Michelle
Published: November 2024

Introduction

Brain health interventions seek to cultivate enduring, health-promoting behaviors for an enhanced quality of life. Despite this objective, achieving sustained adoption and engagement of healthy lifestyle behaviors remains a challenge, prompting the exploration of innovative avenues for promoting brain health. The potential of integrating brain health education in younger populations is particularly promising, given the likelihood of these habits persisting into adulthood. This study thus aimed to identify parental perspectives on a performing arts-based brain health intervention for implementation in preschool settings.

Methods

Preschool parents and early learning center staff participated in three focus co-design groups (n = 12) to create a prototypical performing arts brain health intervention. Each focus group was recorded, transcribed and analyzed using deductive thematic analysis.

Results

Three main themes for effective brain health interventions in preschool settings were identified: optimizing logistical processes to ensure efficient delivery and scalability, recognizing motivation as a central factor influencing sustained engagement across all stakeholders, and tailoring educational content with specialized explanations for children to enhance comprehension and relatability. A new implementation approach was proposed to support an arts-based brain health intervention designed for preschools.

Conclusions

These findings have important implications for the future of brain health education focusing on youth populations and a lifelong approach to dementia risk prevention strategies. By addressing logistical challenges, prioritizing motivation, and tailoring explanations to the unique needs of children, future programs can be more adaptable and successful in fostering positive and sustainable brain health behaviors.
Association of mixed polycyclic aromatic hydrocarbons exposure with hearing loss and the mediating role of blood cell markers of inflammation in U.S. adults
Authors: Shen Peixuan , Hu Dan , Shen Meiyue , Du Tingwei , Zhao Longzhu , Han Miaomiao , Song Ruihan , Guo Rongrong , Lu Xiaochuan , Liu Shengnan , Shen Xiaoli
Published: November 2024

Introduction

Studies on the effects of polycyclic aromatic hydrocarbons (PAHs) on hearing loss (HL) are limited and often focus on individual PAH compounds. The present study aimed to explore the individual and combined effects of PAH exposure on hearing loss, with a focus on the mediating role of inflammatory blood cell markers.

Methods

This cross-sectional study included 1,409 participants from 3 cycles of the National Health and Nutrition Examination Survey (2001–2002, 2003–2004, and 2011–2012). Seven monohydroxylated PAH metabolites (OH-PAHs) in the urine were measured. Multivariable logistic regression, weighted quantile sum (WQS) regression, and Bayesian kernel machine regression (BKMR) were applied to assess both the individual and combined effects of OH-PAHs on hearing loss. Moreover, mediation analysis was employed to examine the mediating role of inflammatory blood cell markers in these associations.

Results

Among the 1,409 participants, 59.1% had hearing loss. The WQS model revealed a positive association between PAH mixtures and HL (OR: 1.290; 95% CI: 1.042, 1.597), LFHL (OR: 1.363; 95% CI: 1.130, 1.644), and HFHL (OR: 1.299; 95% CI: 1.022, 1.626). Additionally, the WQS model identified hydroxynaphthalene (1-OHNAP) primarily contributed to HL and LFHL, while 2-hydroxyfluorene (2-OHFLU) was the primary contributor to HFHL. BKMR analysis demonstrated positive associations between PAH mixtures and all three types of hearing loss. Mediation analysis revealed that the association between OH-PAHs and LFHL was mediated by neutrophil (NEU) and basophil (BAS) counts.

Discussion

These results confirmed that exposure to PAH mixtures was positively associated with the odds of hearing loss and that inflammatory blood cell markers mediated this association.
Current data science capacity building initiatives for health researchers in LMICs: global & regional efforts
Authors: Kiosia Agklinta , Boylan Sally , Retford Matthew , Marques Larissa Pruner , Bueno Flávia Thedim Costa , Kirima Christine , Islam Md Saimul , Naheed Aliya , Wozencraft Anne
Published: November 2024

Background

Data science approaches have proved crucial for generating major insights to address public health challenges. While such approaches have played significant roles during the COVID-19 pandemic, there has been limited investment in capacity building in data science skills and infrastructure for health researchers in LMICs.

Objectives

This review aims to identify current health data science capacity building initiatives and gaps in Africa, Asia, and Latin America and the Caribbean (LAC), to support knowledge sharing and collaborations, and inform future initiatives and associated investment.

Methods

We conducted a literature review using PubMed and Scopus, supplemented by a grey literature search on Google to identify relevant initiatives. Articles were screened based on inclusion criteria.

Findings

From 212 records, 85 met inclusion criteria, with 20 from PubMed and Scopus, and 65 from grey literature. The majority of programmes are tailored to specific disease areas, varying by region. Despite these efforts, there are limited initiatives with a clear, documented strategy on data science capacity building to accelerate global research insights, with the majority adopting a fragmented approach.

Conclusion and future directions

Despite the integration of data science approaches into health research initiatives in LMICs, there is a need for a standardised framework on data science capacity building to facilitate multidisciplinary and global collaboration. Structured approaches, inter-disciplinary, inter-regional connections and robust impact measurement will all be vital for advancing health research insights in these settings.