1.Current Research Status of Digital Technology in the Rehabilitation of Rare Neurological and Muscular Diseases
Yixuan GUO ; Yi GAO ; Yiyang YAO ; Zhuoyue QIN ; Yaofang ZHANG ; Jiaqi JING ; Jing XIE ; Jian GUO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):122-131
To review the randomized controlled trials (RCTs) at home and abroad on digital intelligence (DI)-driven rehabilitation in patients of neuromuscular disease, compare the effects of DI-driven rehabilitation with traditional rehabilitation, summarize the special needs and challenges faced by patients in rehabilitation of rare neuromuscular diseases, and provide evidence for the development and quality improvement of rehabilitation for rare neuromuscular diseases. We searched PubMed, Web of Science, Embase, CNKI, VIP, and Wanfang databases for literature on neuromuscular diseases, rare diseases, digital and intelligent technologies, and rehabilitation published from the inception of the databases to June 2024. Basic and research-related information from the retrieved literature was extracted and analyzed. A total of 43 RCTs in English from 14 countries were included. The most studied diseases were Parkinson′s disease and multiple sclerosis. The application of DI-driven technologies in rehabilitation of rare neuromuscular diseases was still limited. The commonly used technologies were virtual reality (VR) games, intelligent treadmill assistance, gait training robots, hybrid assistive limb (HAL), wearable sensors and tele-rehabilitation (TR) systems. These technologies were applied in patients′ homes or rehabilitation service centers. The VR games significantly improved both static/dynamic balance functions and cognitive functions. The intelligent treadmill assistance significantly enhanced gait speed and stride length. The gait training robots significantly improved balance, gait speed and stride length of patients. The wearable exoskeletons significantly enhanced walking ability. DI-driven rehabilitation measures have great value and potential in the field of neuromuscular disease rehabilitation. Their advantages and characteristics can meet the diverse needs of rare disease patients. In the future, a hierarchical and collaborative rehabilitation service system should be established to meet the urgent needs of the rehabilitation of rare neuromuscular diseases. Combining the advantages of digitization and intelligence will provide standardized, scientific, convenient and affordable rehabilitation services to patients.
2.The Application of Digital Intelligence Technology in the Management of Non-Hospitalized Patients with Rare Diseases
Yiyang YAO ; Yi GAO ; Yixuan GUO ; Zhuoyue QIN ; Yaofang ZHANG ; Jiaqi JING ; Jing XIE ; Jian GUO ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2025;4(1):46-53
To provide references to and give suggestions to the development and optimiza-tion of Digital Intelligence (DI) technology in management of non-hospitalized patients by systematical review the application of digital technology in non-hospital settings. We designed the search strategy and used the words " rare diseases"" patient management"" non-hospitalized management"" community management"" digital intelligence"" big data"" telemedicine" as MESH terms or free words. We searched the database of PubMed, Science-Direct, Web of Science, CNKI, Wanfang and VIP from the beginning of the database to July 2024 and used computer retrieval to get the literatures on the application of DI technology in the management of patients with rare diseases in non-hospital setting. We extracted the information of the first author, country or region, publication time, research participants, DI technology application, and application effect for summary analysis. A total of 13 articles were included in this study, which were from 8 countries or regions. We found that DI technologies used were in the following forms: Internet information platform, wearable devices, telemedicine management platform and electronic database. The DI technology was used by the patients with rare diseases, patient caregivers and professional medical staffs. The application of all the forms above in different populations had good effect. The Internet information platform helped patients and their caregivers learn more about the disease and improved their self-management ability. The wearable device helped monitor the health status of patients in real time and predict the risk of emergent events. The telemedicine management platform facilitated to optimize the allocation of medical resources and strengthen doctor-patient communication. The electronic health database promoted the interconnection of data inside and outside the hospital and improved the accuracy of decision-making through data sharing. The application of DI technology in the management of patients with rare diseases in non-hospitalized settings has shown positive results. In the future, it is necessary to correct the shortcomings and to deal with the challenges in terms of accuracy, readiness, applicability, and privacy protection. Besides, the DI can be integrated into the tri-level management system of patients known as the "patient-community-hospital". It is advisable to take the advantages of digital intelligence technology to improve the efficiency and quality of management of patients in non-hospitalized settings.
3.Associations between lifestyle and comorbid anxiety and depression in pregnant women
Jiaqi ZHENG ; Liyao HUANG ; Yan ZHANG ; Mengbi SHEN ; Xiaojin WANG ; Hong LI ; Zhiwei LIU ; Ying TIAN ; Xiaoning LEI ; Yu GAO
Journal of Environmental and Occupational Medicine 2024;41(3):235-242
Background Anxiety and depression are common perinatal mental health issues that often occur together and can have serious negative effects on both maternal and infant health. Objective To examine the relationships between lifestyle factors and comorbid anxiety and depression (CAD) among pregnant women in Shanghai. Methods The study estimated the prevalence of CAD during the first, second, and third trimesters of pregnancy using the Self-rating Anxiety Scale (SAS) and Center for Epidemiological Studies-Depression (CES-D) based on data from the China National Birth Cohort (CNBC) embryonic-derived diseases with assisted reproductive technology (ART) sub-cohort. Information on demographics, sleep status, nutritional intake, and exercise during each trimester was collected through self-made questionnaires, the Pittsburgh Sleep Quality Index (PSQI), and the Food Frequency Questionnaire (FFQ). Lifestyle factors (such as sleep status, nutritional intake, and exercise during each trimester) were analyzed using logistic regression and generalized linear mixed models (GLMM) to determine their impacts on the prevalence of CAD (yes or no) among pregnant women. Results A total of 2876 pregnant women were included in this study. The prevalence of CAD was 10.6% (305), 3.6% (103), and 5.5% (159) in the first, second, and third trimesters of pregnancy, respectively. The logistic regression analysis revealed that poor sleep quality throughout the entire pregnancy were statistically associated with an increased prevalence of CAD, and the odds ratios (OR) with 95% confidence intervals (CI) were 2.817 (1.845, 4.301), 2.840 (1.855, 4.347), and 9.316 (5.835, 14.876) for the first, second, and third trimesters, respectively, when compared to good sleep quality. Additionally, compared to an intake frequency of 7 times per week, the frequency of egg intake ≤3 times per week in the first trimester (OR=2.025, 95%CI: 1.197, 3.425) and the frequency of egg intake of 4–6 times per week (OR=1.896, 95%CI: 1.117, 3.216) or ≤3 times per week (OR=1.906, 95%CI: 1.082, 3.357) in the third trimester were associated with an increased risk of CAD (P<0.05). Moreover, when compared to a frequency of exercise >3 times per week, never or almost never exercising in the second trimester (OR=2.218, 95%CI: 1.220, 4.035) was associated with an increased risk of CAD (P<0.05). The GLMM analysis also demonstrated a significant association between poor sleep quality, lower exercise frequency, or lower intake frequency of vegetables, eggs, or milk and an increased risk of CAD (P<0.05). Conclusion The prevalence of CAD among pregnant women in Shanghai follows a U-shaped distribution, with the highest rate occurring in early pregnancy and the lowest rate in mid-pregnancy. Factors such as poor sleep quality, inadequate intake of vegetables, eggs, or milk, and lack of exercise during pregnancy may increase the risk of CAD. Implementing lifestyle interventions during pregnancy could potentially reduce the risk of mental health problems and improve the overall health of both mothers and babies.
4.Construction and validation of pregnancy prediction model of artificial insemination by husband based on endometrial structure and uterine spiral artery blood flow parameters
Guangyu YU ; Jiaqi FAN ; Shibei CHEN ; Leilei GAO ; Qing YU ; Chao ZHOU ; Chunmei YU ; Zhen JIN
Chinese Journal of Tissue Engineering Research 2024;28(19):3061-3068
BACKGROUND:The impact of the endometrium's structure and spiral artery blood flow parameters on the pregnancy rate of artificial insemination by husband remains unclear.This study identified the independent factors and constructed a prediction model with good clinical application efficacy after calibration of other confounding factors. OBJECTIVE:To construct and validate a clinical pregnancy prediction model for artificial insemination by husband based on endometrial structure and uterine spiral artery blood flow parameters. METHODS:A retrospective analysis was conducted on 1 299 patients who underwent artificial insemination by husband treatment at Changzhou Maternal and Child Health Hospital from January 2017 to January 2021.The non-pregnancy group consisted of 1 182 patients,while the pregnancy group included 117 patients.Out of these patients,93 cases were successfully matched between the pregnancy and non-pregnancy groups using a 1∶1 propensity score matching method.Single-factor and multi-factor analyses were used to screen the endometrial structure and uterine spiral artery blood flow parameters to determine their influence on artificial insemination by husband outcomes.The optimal cutoff value was established for each independent influencing factor through receiver operating curve analysis and their risk trend affecting artificial insemination by husband pregnancy outcomes was analyzed using a restricted cubic spline.The clinical efficacy of this combined forecast model was tested by using clinical decision curve and clinical influence curve methods. RESULTS AND CONCLUSION:(1)There was no statistical significance in non-endometrial factors between the pregnancy group and the non-pregnancy group,and the data had a good balance by propensity score matching(P>0.05).(2)Single-factor analysis identified several subendometrial parameters as significant influencing factors of artificial insemination by husband pregnancy outcomes,including vascularization index,flow index,vascular flow index,resistance index,pulsatility index,maximum systolic velocity/end-diastolic velocity,thickness of average junction zone and maximum junction zone from the basal endometrium to the outer myometrium inner layer(P<0.05).(3)Multivariate logistic regression analysis revealed that thickness of average junction zone,pulsatility index,and vascular flow index were independent influencing factors of pregnancy outcomes of artificial insemination by husband,vascular flow index>thickness of average junction zone>pulsatility index.(4)Receiver operating characteristic curve analysis indicated that the area under receiver operating characteristic curve of vascular flow index was 0.704(0.629,0.779),and the optimal cutoff value was 6.26;the area under receiver operating characteristic curve of thickness of average junction zone was 0.660(0.582,0.739),and the optimal cutoff value was 6.38;the area under receiver operating characteristic curve of pulsatility index was 0.642(0.563,0.721),and the optimal cutoff value was 1.18.(5)The restricted cubic spline analysis revealed that artificial insemination by husband pregnancy outcomes were significantly positively affected when the vascular flow index was>6.24 or the thickness of average junction zone was≤6.55 mm,while a negative risk was associated with pulsatility index>1.27.(6)The clinical decision curve and clinical influence curve analyses exhibited that the combined prediction model had the maximum clinical net benefit at the threshold probability value of 0.17-0.93,and the ratio of loss to benefit was consistently less than 1 in the threshold probability range,indicating that the model had good clinical efficacy.(7)It is concluded that after adjusting for other confounding factors outside of the endometrium using propensity score matching and multifactorial logistic regression,the thickness of average junction zone,pulsatility index and vascular flow index were independent factors that influenced pregnancy outcomes of artificial insemination by husband.Through determining their optimal cutoff values and assessing their risk trends,it was confirmed that the combined prediction model had good predictive value and clinical efficacy.
5.Ultra-high dose rate FLASH irradiation reduces radiation-induced intestinal injury in mice
Weiping WANG ; Zhaoqi GU ; Qiang GAO ; Jiaqi QIU ; Jian WANG ; Ke HU ; Hao ZHA ; Fuquan ZHANG
Chinese Journal of Radiation Oncology 2024;33(2):152-157
Objective:To investigate whether ultra-high dose rate (FLASH) irradiation can reduce radiation-induced intestinal injuries of mice compared to conventional dose rate (CONV) irradiation.Methods:Both FLASH and CONV irradiation were delivered with electron beam, with dose rates of 750 Gy/s and 0.5G y/s, respectively. A total of 105 mice were randomly divided into groups using a simple randomization method. Twenty-one mice were selected for weight observation, 7 mice in each group. After 9 Gy FLASH and CONV irradiation on the abdomen, the weight changes of mice were measured every other day, and compared among three groups. Twenty-four mice were selected for pathological examination including 5 mice in the control group. Three-and-a-half-day days after 12 Gy FLASH ( n=10) and CONV irradiation ( n=9) on the abdomen, the intestines of the mice were taken. Pathological sections were stained with hematoxylin-eosin (HE) to compare the number and percentage of regenerated crypts of the small intestine between two groups. After 12 Gy FLASH ( n=10) and CONV irradiation ( n=10) on the abdomen, the survival of 20 mice was observed. After FLASH using 4.5 Gy×2 times ( n=10) and CONV irradiation at 9 Gy×1 time ( n=10) on the abdomen, the weight changes were observed. After FLASH using 6 Gy×2 times ( n=10) and CONV irradiation at 12 Gy×1 time ( n=10) on the abdomen, the survival of mice was observed. The time interval between two irradiation was 1 min. EBT3 film was employed to monitor the actual exposure dose of the mice. The variables conforming to normal distribution were expressed by Mean±SD. Inter group comparison was performed by independent t-test. The survival of mice among different groups was compared by log-rank test. Results:After 9 Gy of abdominal irradiation, the mean weight of mice in the FLASH group was significantly higher than that in the CONV group. The weight of mice in the FLASH and CONV groups was (19.8±0.8) g and (18.0±1.8)g ( P=0.036) at 7 days after irradiation, (22.0±1.0)g and (21.2±0.5)g ( P=0.075) at 15 days after irradiation, and (24.2±1.4)g and (22.0±1.2)g ( P=0.012) at 25 days after irradiation, respectively. After 12 Gy irradiation, the mean survival of mice in FLASH and CONV groups was 4 days and 4.7 days ( P=0.029). After 12 Gy total abdominal irradiation, the mean number of intestinal regenerative crypts in the FLASH and CONV groups was 2.9/mm and 1.2/mm ( P=0.041), and the percentage of intestinal regenerative crypts was 34.1% and 14.1%, respectively. The survival of mice irradiated by FLASH using 6 Gy×2 times was longer compared with that of mice after CONV irradiation at 12 Gy×1 time. The weight of mice after 4.5 Gy×2 times irradiation was higher than that of mice after CONV irradiation at 9 Gy×1 time. Conclusion:Weight, survival and the number of intestinal regenerative crypts in the FLASH group are higher than those in the CONV group after irradiation, indicating that radiation-induced intestinal injury caused by FLASH irradiation is slighter than that of CONV irradiation.
6.Influence of perceived stress on executive function: the path of self-hate and negative affect in adolescents
Jiaqi ZHU ; Huiqun ZHU ; Meng QI ; Huanqin GAO ; Yunyue ZHUANG ; Jingxu CHEN
Sichuan Mental Health 2024;37(1):57-62
BackgroundThe development of executive function in adolescents is influenced by many environmental factors. Previous studies have found that perceived stress is closely related to executive function, whereas its role in the mediation of executive function remains poorly studied. ObjectiveTo explore the role of negative affect and self-hate in mediating the relationship between perceived stress and executive function in adolescents, so as to assist the improvement of executive function in adolescents. MethodsQuestionnaires were administered to 7 734 adolescents from five junior and five senior high schools in Rizhao city, Shandong province from 1 to 30 May 2022. Data were collected using a self-made questionnaire, and adolescents were assessed using Perceived Stress Scale (PSS), Behavior Rating Inventory of Executive Function-Self Report Version (BRIEF-SR), Patient Health Questionnaire (PHQ-4) and Self-Hate Scale (SHS). Spearman correlation analysis was conducted to examine the correlation between variables. A Bootstrap method was chosen to examine the mediation effect of self-hate and negative affect on the relationship between perceived stress and executive function in adolescents. ResultsA total of 7 012 (90.66%) valid questionnaires were retrieved. BRIEF-SR score was positively correlated with PSS, PHQ-4 and SHS scores (r=0.564, 0.653, 0.597, P<0.01). PSS score was positively correlated with PHQ-4 and SHS scores (r=0.615, 0.531, P<0.01). PHQ-4 score was positively correlated with SHS score (r=0.566, P<0.01). The value of mediation effect of perceived stress on executive function was 0.574 (95% CI: 0.555~0.594). Self-hate (indirect effect value of 0.160, 95% CI: 0.145~0.175) and negative affect (indirect effect value of 0.143, 95% CI: 0.129~0.158), separately from each other, mediated the relationship between perceived stress and executive function, and a chained mediation effect of self-hate and negative affect was also documented (indirect effect value of 0.065, 95% CI: 0.058~0.073), accounting for 27.87%, 24.91% and 11.32% of the total effect, respectively. ConclusionThe perceived stress of adolescents may be a influencing factor of the executive function. Additionally, perceived stress can either directly affect executive function or indirectly through the separate or chained mediation via negative affect and self-hate.
7.Effect of Coptisine on PI3K/Akt/mTOR Signaling Pathway in Chronic Atrophic Gastritis Rats
Jie WANG ; Pengli DU ; Jiaqi DONG ; Yuewei YANG ; Yunxiao GAO ; Hongyu MA ; Xuemei JIA ; Yuxi GUO ; Bolin LI ; Qian YANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(18):117-124
ObjectiveTo investigate the therapeutic effect and mechanism of coptisine on chronic atrophic gastritis (CAG) in rats based on the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway. MethodA CAG rat model was induced by multiple factors, including sodium salicylate, N-methyl-N′-nitro-N-nitrosoguanidine (MNNG), and irregular feeding. The successfully modeled rats were randomly divided into the model group, folic acid group, and high- and low-dose coptisine groups. The high- and low-dose coptisine groups were given coptisine (50, 10 mg·kg-1, respectively), and the folic acid group was given folic acid at 2 mg·kg-1 for 60 days. The pathological changes were detected by hematoxylin-eosin (HE) staining. The ultrastructure of gastric mucosal cells was observed by electron microscopy. Serum pepsinogen Ⅰ (PGⅠ), pepsinogen Ⅱ (PGⅡ), and PGⅠ/PGⅡ ratio (PGR) were detected by immunoturbidimetry. Serum gastrin-17 (G-17) level was detected by radioimmunoassay. The content of interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) in serum of rats was detected by enzyme-linked immunosorbent assay (ELSIA). Western blot analysis was used to detect the expression levels of TGF-β1, PI3K, phosphorylated-Akt (p-Akt), mTOR, and phosphatase and tensin homolog deleted on chromosome 10 (PTEN) in gastric mucosa. The mRNA levels of TGF-β1, PI3K, Akt, mTOR, PTEN, microtubule-associated protein light chain 3Ⅱ (LC3Ⅱ), and Beclin-1 were detected by real-time quantitative polymerase chain reaction (Real-time PCR). ResultCompared with the normal group, the model group showed atrophy and reduced number of intrinsic glands in the gastric mucosal tissues, as well as inflammatory cell infiltration. The ultrastructure of gastric mucosal cells in the model group displayed nuclear condensation, reduced and swollen mitochondria, and abnormal structure. The serum levels of G-17, PGⅠ, PGR, and the protein and mRNA levels of PTEN in gastric tissues were significantly lower in the model group (P<0.01), while serum levels of IL-6, IL-1β, TNF-α, and the protein and mRNA levels of TGF-β1, PI3K, Akt, and mTOR in gastric tissues were significantly higher (P<0.01). Compared with the model group, various drug intervention groups showed different degrees of improvement in pathological damage and gastric mucosal cell ultrastructure, significantly increased serum levels of G-17, PGⅠ, and PGR (P<0.05,P<0.01), and significantly decreased levels of IL-6, IL-1β, and TNF-α (P<0.05,P<0.01). The high-dose coptisine group significantly downregulated the protein and mRNA levels of TGF-β1, PI3K, Akt, and mTOR (P<0.05,P<0.01). ConclusionBerberine has a therapeutic effect on CAG in rats, possibly exerting a protective effect on gastric mucosa by inhibiting inflammation and blocking the PI3K/Akt/mTOR signaling pathway.
8.miR-1-3p Inhibits Malignant Biological Behavior of Human Esophageal Squamous Cell Carcinoma Cells by Regulating STC2
Fan YU ; Jiaqi WANG ; Changlin GAO ; Jiaxin SI ; Wei LYU ; Yunlong JIA ; Lihua LIU
Cancer Research on Prevention and Treatment 2024;51(8):655-666
Objective To explore the effect of miR-1-3p on the malignant biological behavior of human esophageal squamous cell carcinoma cells and the potential mechanisms.Methods The Gene Expression Omnibus(GEO)database was analyzed to screen differentially expressed miRNAs in esophageal squamous cell carcinoma(ESCC).qRT-PCR was used to detect the expression of miR-1-3p in human ESCC cell lines(KYSE30,KYSE150,KYSE410,KYSE510,and Eca109)and normal esophageal epithelial cell line HET-1A.CCK-8,wound healing,Transwell assays,and flow cytometry were applied to detect the effect of miR-1-3p on the proliferation,migration,invasion,and apoptosis of ESCC cells.Bioinformatics tool was used to predict the target genes of miR-1-3p.A Kaplan-Meier survival curve was drawn to analyze the correlation between STC2 expression and overall survival of patients in the ESCC cohort of the TCGA database.Fluorescence in situ hybridization was performed to verify the subcellular location of miR-1-3p in ESCC cells,and dual-luciferase reporter gene assay was performed to validate the regulation of miR-1-3p on stanniocalcin 2(STC2).RNA immunoprecipitation assays were used to detect the binding of miR-1-3p and STC2.Western blot assay was performed to determine the effect of miR-1-3p on the expression of STC2 and endoplasmic reticulum stress pathway-related proteins,including p-PERK,p-eIF2α,and ATF4.CCK-8,wound healing,Transwell assays,and flow cytometry were applied to detect the effect of STC2 overexpression and knockdown on the proliferation,migration,invasion,and apoptosis of ESCC cells.Results The expression of miR-1-3p was lower in ESCC cell lines than in HET-1A cells(all P<0.05).The transfection of miR-1-3p mimic decreased the proliferation,invasion,and migration of ESCC cells(all P<0.05)and promoted the apoptosis of ESCC cells(all P<0.001).Bioinformatics tool showed that STC2 was a target gene of miR-1-3p.The expression of STC2 in ESCC tissues was higher than that in normal esophageal epithelial tissues in the ESCC cohort of TCGA database and was negatively correlated with prognosis(all P<0.05).miR-1-3p was located in the cytoplasm and can directly bind to STC2 mRNA.The transfection of miR-1-3p mimic downregulated the expression of STC2,p-PERK,p-eIF2α,and ATF4(all P<0.05).The overexpression of STC2 promoted the proliferation,invasion,and migration(all P<0.05)and inhibited the apoptosis of ESCC cells(all P<0.05).Knockdown of STC2 inhibited the proliferation,invasion,and migration(all P<0.05)and promoted the apoptosis of ESCC cells(all P<0.05).Conclusion miR-1-3p inhibits the malignant biological behavior and promotes the apoptosis of esophageal squamous cell carcinoma cells by regulating STC2 possibly by suppressing the endoplasmic reticulum stress.
9.The effect of local application of tranexamic acid on reducing drainage volume after thyroidectomy
Zhiwei LUO ; Hongli JI ; Jinshan LIAN ; Yamei CHEN ; Jiang GAO ; Jiaqi CHANG ; Longlong WANG
Chinese Journal of Postgraduates of Medicine 2024;47(5):456-460
Objective:To explore the effect and safety of local spraying tranexamic acid after thyroidectomy.Methods:Randomized double-blind placebo-controlled study method was used. Sixty-four patients underwent scheduled thyroidectomy from December 2022 to August 2023 in Baotou Cancer Hospital were selected. The patients were divided into tranexamic acid group and control group by random digits table method with 32 cases each. Before closing the wound during surgery, 16 ml of tranexamic acid injection with concentration of 25 mg/ml was used to wash the wound and 1 ml of tranexamic acid injection (tranexamic acid 100 mg) used to locally spray in tranexamic acid group; 16 ml of the sterile water for injection was used to wash the wound and 1 ml of sterile water for injection was used locally spray in control group, and then the drainage tube was clipped for 20 min. The neck drainage volume on the first to fourth day after surgery and complication were recorded; the C-reactive protein level before and after surgery was detected.Results:Two patients in each group withdrew from the study midway. The drainage volume on the first, second and third day and total drainage volume in tranexamic acid group were significantly lower than those in control group: (29.10 ± 8.04) ml vs. (38.50 ± 8.67) ml, (18.00 ± 7.33) ml vs. (27.20 ± 10.66) ml, (10.70 ± 5.75) ml vs. (14.60 ± 6.83) ml and (69.20 ± 24.48) ml vs. (96.70 ± 31.90) ml, and there was statistical difference ( P<0.01); there was no statistical difference in the drainage volume on the fourth day after surgery between two groups ( P>0.05). There was no statistical difference in C-reactive protein before and after surgery between two groups ( P>0.05). There was 1 case of fever (body temperature 37.5 ℃) in the control group, and there were no complications such as intermuscular thrombosis, venous thrombosis, incision infection and delayed wound healing in both groups. Conclusions:Local application of tranexamic acid after thyroidectomy can reduce postoperative drainage volume and does not increase the risk of thrombosis, infection and delayed healing.
10.Dentofacial phenotype of non-syndromic tooth agenesis patients with PAX9 mutation
Jiaqi DOU ; Jie GAO ; Xiaoling BIAN ; Feng WANG ; Qinggang DAI ; Yiqun WU
Journal of Shanghai Jiaotong University(Medical Science) 2024;44(6):687-693
ObJective·To evaluate the dentofacial phenotype in non-syndromic tooth agenesis(NSTA)patients with paired box gene 9(PAX9)mutation.Methods·Patients with NSTA who visited the Department of Second Dental Center of Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine,between January 2016 and December 2023 received whole-exome sequencing to screen PAX9 mutation.The location and number of missing teeth were evaluated by oral pantomography,and dentofacial deformities were evaluated by X-ray cephalometrics.Results·Seven patients with PAX9 mutation were included in the study,including 3 males(42.9%)and 4 females(57.1%).The patients were 7-31 years old at first visit,with a mean age of(19.7±8.0)years old.All the 7 patients were PAX9 heterozygotes,of which 4 were missense and 3 were frameshift.The average number of missing teeth was 15.9±2.9.The number of missing teeth in maxilla(9.6±2.6)was slightly higher than that in mandible(6.3±2.4)(P=0.030).Maxillary second molar(100.0%),maxillary canine(85.7%)and mandibular second premolar(85.7%)were the three most common missing teeth,while mandibular lateral incisor(14.3%)and mandibular canine(14.3%)were the two least missing teeth.Patients with frameshift mutation had more missing teeth(18.3±2.1)than those with missense mutation(14.0±1.8)(P=0.032).X-ray cephalometrics analysis results showed that the angle sella-nasion-subspinale(SNA),angle nasion-subspinale-subspinale-porion(NA-Apo)and sella-nasion(S-N)in adult patients with PAX9 mutation were significantly lower than the normal reference values,suggesting a shorter anterior cranial base and maxillary length.The frankfort horizontal plane-nasion-porion(FH-NPo)was higher than the reference value,and the Y-axis was lower than the reference value,indicating a more prognathic mandible.The angle subspinale-nasion-supramental(ANB)was lower than the reference value,indicating a skeletal angle Ⅲ malocclusion.The angle upper central incisor-nasion-subspinale(angle U1-NA)was higher than the reference value,indicating a lip inclination of maxillary central incisor.The angle lower central incisor-mandibular plane(IMPA)and lower central incisor-nasion-supramental(L1-NB)were lower than the reference values,indicating a retroclination of the mandibular central incisor,and crossbite in the maxillary and mandibular anterior teeth.Conclusion·The dentofacial phenotype of PAX9-mutated patients with NSTA is reported comprehensively.It is helpful to improve the understanding of the role of PAX9 in human maxillofacial development.

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