1.Clinical features and variant spectrum of FGFR3-related disorders.
Shi-Li GU ; Ling-Wen YING ; Guo-Ying CHANG ; Xin LI ; Juan LI ; Yu DING ; Ru-En YAO ; Ting-Ting YU ; Xiu-Min WANG
Chinese Journal of Contemporary Pediatrics 2025;27(10):1259-1265
OBJECTIVES:
To study genotype-phenotype correlations in children with FGFR3 variants and to improve clinical recognition of related disorders.
METHODS:
Clinical data of 95 patients aged 0-18 years harboring FGFR3 variants, confirmed by whole‑exome sequencing at Shanghai Children's Medical Center from January 2012 to December 2023, were retrospectively reviewed. Detailed phenotypic characterization was performed for 22 patients with achondroplasia (ACH) and 10 with hypochondroplasia (HCH).
RESULTS:
Among the 95 patients, 52 (55%) had ACH, 24 (25%) had HCH, 9 (9%) had thanatophoric dysplasia, 3 (3%) had syndromic skeletal dysplasia, 2 (2%) had severe achondroplasia with developmental delay and acanthosis nigricans, and 5 (5%) remained unclassified. A previously unreported FGFR3 variant, c.1663G>T, was identified. All 22 ACH patients presented with disproportionate short stature accompanied by limb dysplasia, commonly with macrocephaly, a depressed nasal bridge, bowed legs, and frontal bossing; complications were present in 17 (77%). The 10 HCH patients predominantly exhibited disproportionate short stature with limb dysplasia and depressed nasal bridge.
CONCLUSIONS
ACH is the most frequent phenotype associated with FGFR3 variants, and missense variants constitute the predominant variant type. The degree of FGFR3 activation appears to correlate with the clinical severity of skeletal dysplasia.
Humans
;
Receptor, Fibroblast Growth Factor, Type 3/genetics*
;
Child
;
Male
;
Child, Preschool
;
Female
;
Infant
;
Adolescent
;
Dwarfism/genetics*
;
Achondroplasia/genetics*
;
Lordosis/genetics*
;
Infant, Newborn
;
Retrospective Studies
;
Genetic Association Studies
;
Bone and Bones/abnormalities*
;
Phenotype
;
Limb Deformities, Congenital
2.Expert consensus on digital intraoral scanning technology
Jie YOU ; Wenjuan YAN ; Liting LIN ; Wen-Zhen GU ; Yarong HOU ; Wei XIAO ; Hui YAO ; Yaner LI ; Lihui MA ; Ruini ZHAO ; Junqi QIU ; Jianzhang LIU ; Yi ZHOU
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(8):569-577
Digital intraoral scanning is a hot topic in the field of oral digital technology.In recent years,digital intra-oral scanning has gradually become the mainstream technology in orthodontics,prosthodontics,and implant dentistry.The precision of digital intraoral scanning and the accuracy and stitching of data collection are the keys to the success of the impression.However,the operators are less familiar with the intraoral scanning characteristics,imaging process-ing,operator scanning method,oral tissue specificity of the scanned object,and restoration design.Thus far,no unified standard and consensus on digital intraoral scanning technology has been achieved at home or abroad.To deal with the problems encountered in oral scanning and improve the quality of digital scanning,we collected common expert opin-ions and sought to expound the causes of scanning errors and countermeasures by summarizing the existing evidence.We also describe the scanning strategies under different oral impression requirements.The expert consensus is that due to various factors affecting the accuracy of digital intraoral scanning and the reproducibility of scanned images,adopting the correct scanning trajectory can shorten clinical operation time and improve scanning accuracy.The scanning trajec-tories mainly include the E-shaped,segmented,and S-shaped methods.When performing fixed denture restoration,it is recommended to first scan the abutment and adjacent teeth.When performing fixed denture restoration,it is recommend-ed to scan the abutment and adjacent teeth first.Then the cavity in the abutment area is excavated.Lastly,the cavity gap was scanned after completing the abutment preparation.This method not only meets clinical needs but also achieves the most reliable accuracy.When performing full denture restoration in edentulous jaws,setting markers on the mucosal tissue at the bottom of the alveolar ridge,simultaneously capturing images of the vestibular area,using different types of scanning paths such as Z-shaped,S-shaped,buccal-palatal and palatal-buccal pathways,segmented scanning of dental arches,and other strategies can reduce scanning errors and improve image stitching and overlap.For implant restora-tion,when a single crown restoration is supported by implants and a small span upper structure restoration,it is recom-mended to first pre-scan the required dental arch.Then the cavity in the abutment area is excavated.Lastly,scanning the cavity gap after installing the implant scanning rod.When repairing a bone level implant crown,an improved indi-rect scanning method can be used.The scanning process includes three steps:First,the temporary restoration,adjacent teeth,and gingival tissue in the mouth are scanned;second,the entire dental arch is scanned after installing a standard scanning rod on the implant;and third,the temporary restoration outside the mouth is scanned to obtain the three-di-mensional shape of the gingival contour of the implant neck,thereby increasing the stability of soft tissue scanning around the implant and improving scanning restoration.For dental implant fixed bridge repair with missing teeth,the mobility of the mucosa increases the difficulty of scanning,making it difficult for scanners to distinguish scanning rods of the same shape and size,which can easily cause image stacking errors.Higher accuracy of digital implant impres-sions can be achieved by changing the geometric shape of the scanning rods to change the optical curvature radius.The consensus confirms that as the range of scanned dental arches and the number of data concatenations increases,the scanning accuracy decreases accordingly,especially when performing full mouth implant restoration impressions.The difficulty of image stitching processing can easily be increased by the presence of unstable and uneven mucosal mor-phology inside the mouth and the lack of relatively obvious and fixed reference objects,which results in insufficient ac-curacy.When designing restorations of this type,it is advisable to carefully choose digital intraoral scanning methods to obtain model data.It is not recommended to use digital impressions when there are more than five missing teeth.
3.Human resource efficiency and spatial distribution characterization of district-level center for disease control and prevention in city N of Jiangsu Province
Yang LI ; Yu-Meng WEI ; Yu-Qi YANG ; Wen-Jie XU ; Ming-Yao GU ; Zi-Fa HUANG ; Zhi-Hao ZHANG ; Fang WU
Chinese Journal of Health Policy 2024;17(10):52-58
Objective:To analyze the efficiency of human resource allocation and its spatial distribution characteristics of district-level Center for Disease Control and Prevention(CDC)in city N of Jiangsu Province in 2020,in order to provide a strong decision-making reference for optimizing and strengthening the CDC talent team.Methods:The efficiency of human resources of district-level CDC of City N in2020 was measured using the Super-Efficiency SBM model,and the spatial association pattern was analyzed using the natural break point classification method and Moran's index,with the visualization presented through LISA maps.Results:The overall level of human resource efficiency in district-level CDC of City N is relatively high.However,spatially,there are significant differences among the regions,showing a trend of high efficiency in the central areas and low efficiency at the ends.Moran's index and LISA maps indicate a negative spatial correlation in efficiency,with a low-high(L-H)cluster centered on Area L and a high-low(H-L)cluster centered on Area J.The high-high(H-H)cluster pattern has not yet formed,exhibiting a characteristic of interspersed high and low efficiency.Conclusions:There are regional differences in the human resource efficiency of the Disease Control Center in City N,and the spatial cluster pattern needs to be optimized.It is recommended to focus on efficiency improvement in Areas P and L,formulate appropriate policies,and promote coordinated regional development.
4.Study on inhibitory effect of alisol B on non-small cell lung cancer based on network pharmacology and its mechanism
Liu-Yan XIANG ; Wen-Xuan WANG ; Si-Meng GU ; Xiao-Qian ZHANG ; Lu-Yao LI ; Yu-Qian LI ; Yuan-Ru WANG ; Qi-Qi LEI ; Xue YANG ; Ya-Jun CAO ; Xue-Jun LI
Chinese Pharmacological Bulletin 2024;40(12):2375-2384
Aim To explore the potential genes and mechanism of alisol B in the treatment of non-small cell lung cancer(NSCLC).Methods The proliferation and migration of NSCLC cells were detected by CCK-8 and Transwell.Genes of NSCLC and alisol B were col-lected through TCGA and compound gene prediction database,and their intersection genes were obtained.The network of protein-protein interaction(PPI)was constructed by using String database,and the top 20 key nodes were screened out,and the prognosis-related proteins related to the prognosis of NSCLC were screened out by using R language,and the intersection of them was obtained.The potential mechanism of ali-sol B on NSCLC was explored by KEGG and GO en-richment analysis and the relationship between related genes and immune cells,which was verified by cell-lev-el experiments.Results Alisol B inhibited the cell activity and migration ability of NSCLC cells.Five im-portant genes were identified by network pharmacologi-cal analysis:CCNE1,CDK1,COL1A1,COL1A2 and COL3A1.The results of cell experiment showed that al-isol B down-regulated the expression of Cyclin E1,CDK1 and COL1A2 in NSCLC cells.In addition,alisol B could inhibit the expression of COL1A2 and M2 macrophage marker CD206 in macrophages.Conclu-sions Alisol B may inhibit the proliferation of tumor cells by down-regulating CDK1 and Cyclin E1,and may affect the function of macrophages by inhibiting COL1A2,thus regulating the tumor immune microenvi-ronment and inhibiting NSCLC.
5.Comparison of Mortality Predictive Models of Sepsis Patients Based on Machine Learning.
Zi-Yang WANG ; Yu-Shan LAN ; Zi-Du XU ; Yao-Wen GU ; Jiao LI
Chinese Medical Sciences Journal 2022;37(3):201-209
Objective To compare the performance of five machine learning models and SAPS II score in predicting the 30-day mortality amongst patients with sepsis. Methods The sepsis patient-related data were extracted from the MIMIC-IV database. Clinical features were generated and selected by mutual information and grid search. Logistic regression, Random forest, LightGBM, XGBoost, and other machine learning models were constructed to predict the mortality probability. Five measurements including accuracy, precision, recall, F1 score, and area under curve (AUC) were acquired for model evaluation. An external validation was implemented to avoid conclusion bias. Results LightGBM outperformed other methods, achieving the highest AUC (0.900), accuracy (0.808), and precision (0.559). All machine learning models performed better than SAPS II score (AUC=0.748). LightGBM achieved 0.883 in AUC in the external data validation. Conclusions The machine learning models are more effective in predicting the 30-day mortality of patients with sepsis than the traditional SAPS II score.
Humans
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Machine Learning
;
Sepsis
;
Logistic Models
6.Military-related posttraumatic stress disorder and mindfulness meditation: A systematic review and meta-analysis.
Lu-Na SUN ; Jing-Wen GU ; Li-Jun HUANG ; Zhi-Lei SHANG ; Yao-Guang ZHOU ; Li-Li WU ; Yan-Pu JIA ; Nian-Qi LIU ; Wei-Zhi LIU
Chinese Journal of Traumatology 2021;24(4):221-230
PURPOSE:
Posttraumatic stress disorder (PTSD) is a significant global mental health concern, especially in the military. This study aims to estimate the efficacy of mindfulness meditation in the treatment of military-related PTSD, by synthesizing evidences from randomized controlled trials.
METHODS:
Five electronic databases (Pubmed, EBSCO Medline, Embase, PsychINFO and Cochrane Library) were searched for randomized controlled trials focusing on the treatment effect of mindfulness meditation on military-related PTSD. The selection of eligible studies was based on identical inclusion and exclusion criteria. Information about study characteristics, participant characteristics, intervention details, PTSD outcomes, as well as potential adverse effects was extracted from the included studies. Risk of bias of all the included studies was critically assessed using the Cochrane Collaboration's tool. R Statistical software was performed for data analysis.
RESULTS:
A total of 1902 records were initially identified and screened. After duplicates removal and title & abstract review, finally, 19 articles in English language with 1326 participants were included through strict inclusion and exclusion criteria. The results revealed that mindfulness meditation had a significantly larger effect on alleviating military-related PTSD symptoms compared with control conditions, such as treatment as usual, present-centered group therapy and PTSD health education (standardized mean difference (SMD) = -0.33; 95% CI [-0.45, -0.21]; p < 0.0001). Mindfulness interventions with different control conditions (active or non-active control, SMD = -0.33, 95% CI [-0.46, -0.19]; SMD = -0.49, 95% CI [-0.88, -0.10], respectively), formats of delivery (group-based or individual-based, SMD = -0.30, 95% CI [-0.42, -0.17], SMD = -0.49, 95% CI [-0.90, -0.08], respectively) and intervention durations (short-term or standard duration, SMD = -0.27, 95% CI [-0.46, -0.08], SMD = -0.40, 95% CI [-0.58, -0.21], respectively) were equally effective in improving military-related PTSD symptoms.
CONCLUSION
Findings from this meta-analysis consolidate the efficacy and feasibility of mindfulness meditation in the treatment of military-related PTSD. Further evidence with higher quality and more rigorous design is needed in the future.
7.Effect of Yinxing Mihuan Oral Solutionon P2RX7/NLRP3 Signaling Pathway in Depression Model Rats Induced by Isolation Combined with Chronic Unpredictable Mild Stress
Shan CAO ; Xiao-di FAN ; Bu-chang ZHAO ; Li XU ; Yi-min WANG ; Wen-ting SONG ; Yong WANG ; Ming-jiang YAO ; Guo-qiang GU ; Chang-qing HE ; Guang-rui WANG ; Jian-xun LIU
Chinese Journal of Experimental Traditional Medical Formulae 2021;27(12):33-39
Objective:To explore the antidepressant mechanism of Yinxing Mihuan oral solution (YMO) by investigating its effect on depression model rats. Method:The depression rats were induced by isolation combined with chronic unpredictable mild stress (CUMS) and then randomly divided into model group, fluoxetine group (10 mg·kg-1) and high-dose (618 mg·kg-1) and low-dose (309 mg·kg-1) YMO groups. A blank control group was also set up and ten rats were included in each group. Modeling lasted for 21 consecutive days, and rats were administered the 8th day after stimulation at a dose of 10 mL·kg-1 for 14 days, except those in the blank control and model groups which were given distilled water. Afterward, the sucrose preference test, open field test, tail suspension test were carried out. The pathological changes of hippocampus in depression rats were observed after hematoxylin-eosin (HE) staining. The content of interleukin-1
8.Professor
Dong-Dong WANG ; Bo LI ; Yong-Mei ZHA ; Han ZOU ; Ting-Ting YAO ; Wen GU ; Jun YANG ; Qing-Ping ZHANG
Chinese Acupuncture & Moxibustion 2021;41(3):313-315
Professor
Acupuncture
;
Acupuncture Points
;
Acupuncture Therapy
;
Facial Paralysis/therapy*
;
Humans
;
Meridians
;
Moxibustion
9.A multicenter retrospective study on the real-world outcomes of autologous vs. allogeneic hematopoietic stem cell transplantation for peripheral T-cell lymphoma in China.
Zhen-Yang GU ; Yu-Jun DONG ; Xiao-Rui FU ; Nai-Nong LI ; Yao LIU ; Xiao-Xiong WU ; Yi-Ni WANG ; Yu-Hang LI ; Han-Yun REN ; Ming-Zhi ZHANG ; Xiao-Fan LI ; Mai-Hong WANG ; Ya-Mei WU ; Dai-Hong LIU ; Zhao WANG ; Liang-Ding HU ; Wen-Rong HUANG
Chinese Medical Journal 2021;134(13):1584-1592
BACKGROUND:
There were few studies on real-world data about autologous hematopoietic stem cell transplantation (auto-HSCT) or allogeneic HSCT (allo-HSCT) in peripheral T-cell lymphoma (PTCL). This study aimed to investigate the clinical outcomes of patients who received auto-HSCT or allo-HSCT in China.
METHODS:
From July 2007 to June 2017, a total of 128 patients who received auto-HSCT (n = 72) or allo-HSCT (n = 56) at eight medical centers across China were included in this study. We retrospectively collected their demographic and clinical data and compared the clinical outcomes between groups.
RESULTS:
Patients receiving allo-HSCT were more likely to be diagnosed with stage III or IV disease (95% vs. 82%, P = 0.027), bone marrow involvement (42% vs. 15%, P = 0.001), chemotherapy-resistant disease (41% vs. 8%, P = 0.001), and progression disease (32% vs. 4%, P < 0.001) at transplantation than those receiving auto-HSCT. With a median follow-up of 30 (2-143) months, 3-year overall survival (OS) and progression-free survival (PFS) in the auto-HSCT group were 70%(48/63) and 59%(42/63), respectively. Three-year OS and PFS for allo-HSCT recipients were 46%(27/54) and 44%(29/54), respectively. There was no difference in relapse rate (34%[17/63] in auto-HSCT vs. 29%[15/54] in allo-HSCT, P = 0.840). Three-year non-relapse mortality rate in auto-HSCT recipients was 6%(4/63) compared with 27%(14/54) for allo-HSCT recipients (P = 0.004). Subanalyses showed that patients with lower prognostic index scores for PTCL (PIT) who received auto-HSCT in an upfront setting had a better outcome than patients with higher PIT scores (3-year OS: 85% vs. 40%, P = 0.003). Patients with complete remission (CR) undergoing auto-HSCT had better survival (3-year OS: 88% vs. 48% in allo-HSCT, P = 0.008). For patients beyond CR, the outcome of patients who received allo-HSCT was similar to that in the atuo-HSCT group (3-year OS: 51% vs. 46%, P = 0.300).
CONCLUSIONS
Our study provided real-world data about auto-HSCT and allo-HSCT in China. Auto-HSCT seemed to be associated with better survival for patients in good condition (lower PIT score and/or better disease control). For patients possessing unfavorable characteristics, the survival of patients receiving allo-HSCT group was similar to that in the auto-HSCT group.
China
;
Hematopoietic Stem Cell Transplantation
;
Humans
;
Lymphoma, T-Cell, Peripheral/therapy*
;
Neoplasm Recurrence, Local
;
Retrospective Studies
;
Transplantation, Autologous
;
Transplantation, Homologous
;
Treatment Outcome
10.Factors associated with a SARS-CoV-2 recurrence after hospital discharge among patients with COVID-19: systematic review and meta-analysis.
Meng-Qi YAO ; Qiu-Xian ZHENG ; Jia XU ; Jing-Wen DENG ; Tian-Tian GE ; Hai-Bo ZHOU ; Feng-Tian WU ; Xin-Yu GU ; Qin YANG ; Yan-Li REN ; Gang WANG ; Zhi CHEN
Journal of Zhejiang University. Science. B 2020;21(12):940-947
BACKGROUND:
The proportion of recurrences after discharge among patients with coronavirus disease 2019 (COVID-19) was reported to be between 9.1% and 31.0%. Little is known about this issue, however, so we performed a meta-analysis to summarize the demographical, clinical, and laboratorial characteristics of non-recurrence and recurrence groups.
METHODS:
Comprehensive searches were conducted using eight electronic databases. Data regarding the demographic, clinical, and laboratorial characteristics of both recurrence and non-recurrence groups were extracted, and quantitative and qualitative analyses were conducted.
RESULTS:
Ten studies involving 2071 COVID-19 cases were included in this analysis. The proportion of recurrence cases involving patients with COVID-19 was 17.65% (between 12.38% and 25.16%) while older patients were more likely to experience recurrence (weighted mean difference (WMD)=1.67, range between 0.08 and 3.26). The time from discharge to recurrence was 13.38 d (between 12.08 and 14.69 d). Patients were categorized as having moderate severity (odds ratio (OR)=2.69, range between 1.30 and 5.58), while those with clinical symptoms including cough (OR=5.52, range between 3.18 and 9.60), sputum production (OR=5.10, range between 2.60 and 9.97), headache (OR=3.57, range between 1.36 and 9.35), and dizziness (OR=3.17, range between 1.12 and 8.96) were more likely to be associated with recurrence. Patients presenting with bilateral pulmonary infiltration and decreased leucocyte, platelet, and CD4
CONCLUSIONS
The main factors associated with the recurrence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) after hospital discharge were older age, moderate severity, bilateral pulmonary infiltration, laboratory findings including decreased leucocytes, platelets, and CD4
Age Factors
;
Blood Cell Count
;
CD4 Lymphocyte Count
;
COVID-19/pathology*
;
Cough
;
Dizziness
;
Headache
;
Humans
;
Patient Discharge
;
Recurrence
;
Risk Factors


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