1.Clinical Observation on Filiform-Heated Needle Combined with Qingbu Huacuo Decoction in the Treatment of Acne of Damp-Heat due to Spleen Deficiency Syndrome
Linya NI ; Dejian DUAN ; Haifang GAN ; Shuping XU ; Dan HUANG ; Jiayao NIE ; Sichen LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(2):390-396
Objective To observe the clinical efficacy and safety of filiform-heated needle combined with Qingbu Huacuo Decoction in the treatment of acne of damp-heat due to spleen deficiency syndrome.Methods Seventy patients with acne of damp-heat due to spleen deficiency syndrome admitted to the seventh clinical Medical School of Guangzhou University of Chinese Medicine from May 2023 to March 2024 were randomly divided into the observation group and the control group according to random number table method,with 35 patients in each group.Health education was given to the patients in both groups.The control group was given oral administration of Doxycycline Hyclate Tablets combined with filiform-heated needle for treatment,and the observation group was treated with filiform-heated needle combined with Qingbu Huacuo Decoction orally,the course of treatment for the two groups covered six weeks.After six weeks of treatment,the clinical efficacy of the two groups was evaluated,and the changes in Global Acne Grading System(GAGS)score and Quality of Life-Acne(Qol-Acne)score,as well as the traditional Chinese medicine(TCM)syndrome scores before and after treatment were observed.The changes of skin barrier function indicators such as trans epidermal water loss(TEWL)content,skin moisture content,and sebum content before and after treatment were compared between the two groups of patients.Moreover,the safety of the two groups and the occurrence of adverse reactions were evaluated.Results(1)After treatment,the GAGS scores of patients in the two groups were improved significantly(P<0.05),and the improvement in the observation group was significantly superior to that in the control group,with a statistically significant difference(P<0.05).(2)After treatment,the Qol-Acne scores of the patients in the two groups were significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving the three aspects of self-perception,emotional functioning,and self-assessment,with a statistically significant difference(P<0.05),and the observation group was slightly superior to the control group in improving social functioning,but the difference being not statistically significant(P>0.05).(3)After treatment,the content of TEWL,skin moisture,and sebum of patients in the two groups were significantly improved(P<0.05),and the improvement in the observation group was significantly superior to that in the control group,the difference being statistically significant(P<0.05).(4)After treatment,the TCM syndrome scores of the two groups of patients were improved significantly(P<0.05),and the improvement in the observation group was significantly superior to that in the control group,with a statistically significant difference(P<0.05).(5)The total effective rate was 94.29%(33/35)in the observation group and 74.29%(26/35)in the control group.The clinical efficacy of the observation group was superior to that of the control group,the difference being statistically significant(P<0.05).(6)Comparison of the incidence of adverse reactions between the two groups,the difference being not statistically significant(P>0.05).Conclusion Filiform-heated needle combined with Qingbu Huacuo Decoction in the treatment of acne of damp-heat due to spleen deficiency syndrome can significantly improve the clinical symptoms of patients,thus improving their quality of life,with good safety.
2.Survey and recommendations for gastrointestinal endoscope cleaning and disinfection quality in 74 medical institutions in Yangzhou of Jiangsu Province
Xiaofang YE ; Jianping SUN ; Ying QIN ; Qi LIU ; Shuping DONG ; Ting MENG
Journal of Clinical Medicine in Practice 2025;29(7):122-126
Objective To investigate the current situation of personnel training,material alloca-tion,process implementation and quality monitoring of gastrointestinal endoscopy cleaning and disin-fection in medical institutions at all levels in Yangzhou City,so as to provide reliable data for further improving the quality management of digestive endoscopy cleaning and disinfection in the city.Meth-ods According to the latest industry standards,a questionnaire was designed to carry out an online questionnaire survey on the status quo of digestive endoscopy cleaning and disinfection in 74 medical institutions of different levels in Yangzhou City,and the results were analyzed.Results 50%of the city's hospitals adopt the way of self-training within the department,and only 22 people have obtained the provincial or above professional cleaning and disinfection certificate.In 21.62%of hospitals,cleaning and disinfection personnel were not assessed before starting work.13.51%of the hospitals did not use purified water for terminal rinsing,and 44.59%of the hospitals did not have a cleaning and disinfection machine.79.73%of hospitals recorded by hand.71.62%of the hospitals failed to carry out standard cleaning quality monitoring,83.78%of the hospitals did not implement biofiltra-tion monitoring method.In addition,in the biological monitoring in 2023,14.86%of hospitals had the problem of excessive microorganisms.Conclusion The implementation of endoscope cleaning and disinfection standards varied significantly among medical institutions in Yangzhou,with level one and level two hospitals posing potential hospital infection risks.It is recommended to establish a pro-fessional entry system for endoscope cleaning and disinfection personnel citywide,increase investment in hardware facilities,and strictly enforce monitoring standards.
3.Water quality of self-provided wells water in Haidian District in Beijing in 2018 - 2022
Yongmei HU ; Xueying LIU ; Shuping ZHU ; Haiping CHEN
Journal of Public Health and Preventive Medicine 2024;35(3):86-89
Objective To investigate the water quality and sanitary conditions of rural self-provided wells water in Haidian District, Beijing, and to provide reference for strengthening water supply management of self-provided wells. Methods The water quality monitoring data of rural self-provided wells in Haidian District from 2018 to 2022 were analyzed. Results A total of 1 568 water samples were tested in 2018-2022 , of which 1 486 were qualified, with a qualified rate of 94.77%. The qualified rate in each year was 86.75% , 92.86% , 97.48% , 98.06% , and 99.34% , respectively , and the difference was statistically significant ( χ2= 75.296 , P<0.05). The qualified rates of sensory traits and general chemical indexes, toxicological indexes and microbial indexes were 97.70%, 97.58% and 98.28%, respectively. There were statistically significant differences in the qualified rates among the three indexes in 2018, 2019 and 2021 (P < 0.05). The unqualified indicators included total hardness, total number of colonies, total coliform, fluoride, nitrate and turbidity, with a qualified rate of 97.96%, 98.41%, 99.17%, 99.11%, 98.47% and 99.94%, respectively. Conclusion The water quality of self-provided wells in rural Haidian District is good. Relevant departments should continue to strengthen the supervision of self-provided wells, such as the supervision of self-provided wells disinfection devices and water treatment equipment, to ensure the safety of drinking water for residents.
4.Effects of traditional Chinese medicine on treatment outcomes in severe COVID-19 patients: a single-centre study.
Yongjiu XIAO ; Binbin LI ; Chang LIU ; Xiuyu HUANG ; Ling MA ; Zhirong QIAN ; Xiaopeng ZHANG ; Qian ZHANG ; Dunqing LI ; Xiaoqing CAI ; Xiangyong YAN ; Shuping LUO ; Dawei XIANG ; Kun XIAO
Chinese Journal of Natural Medicines (English Ed.) 2024;22(1):89-96
As the search for effective treatments for COVID-19 continues, the high mortality rate among critically ill patients in Intensive Care Units (ICU) presents a profound challenge. This study explores the potential benefits of traditional Chinese medicine (TCM) as a supplementary treatment for severe COVID-19. A total of 110 critically ill COVID-19 patients at the Intensive Care Unit (ICU) of Vulcan Hill Hospital between Feb., 2020, and April, 2020 (Wuhan, China) participated in this observational study. All patients received standard supportive care protocols, with a subset of 81 also receiving TCM as an adjunct treatment. Clinical characteristics during the treatment period and the clinical outcome of each patient were closely monitored and analysed. Our findings indicated that the TCM group exhibited a significantly lower mortality rate compared with the non-TCM group (16 of 81 vs 24 of 29; 0.3 vs 2.3 person/month). In the adjusted Cox proportional hazards models, TCM treatment was associated with improved survival odds (P < 0.001). Furthermore, the analysis also revealed that TCM treatment could partially mitigate inflammatory responses, as evidenced by the reduced levels of proinflammatory cytokines, and contribute to the recovery of multiple organic functions, thereby potentially increasing the survival rate of critically ill COVID-19 patients.
Humans
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COVID-19
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Medicine, Chinese Traditional
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SARS-CoV-2
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Critical Illness
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Treatment Outcome
5.A novel TNKS/USP25 inhibitor blocks the Wnt pathway to overcome multi-drug resistance in TNKS-overexpressing colorectal cancer.
Hongrui ZHU ; Yamin GAO ; Liyun LIU ; Mengyu TAO ; Xiao LIN ; Yijia CHENG ; Yaoyao SHEN ; Haitao XUE ; Li GUAN ; Huimin ZHAO ; Li LIU ; Shuping WANG ; Fan YANG ; Yongjun ZHOU ; Hongze LIAO ; Fan SUN ; Houwen LIN
Acta Pharmaceutica Sinica B 2024;14(1):207-222
Modulating Tankyrases (TNKS), interactions with USP25 to promote TNKS degradation, rather than inhibiting their enzymatic activities, is emerging as an alternative/specific approach to inhibit the Wnt/β-catenin pathway. Here, we identified UAT-B, a novel neoantimycin analog isolated from Streptomyces conglobatus, as a small-molecule inhibitor of TNKS-USP25 protein-protein interaction (PPI) to overcome multi-drug resistance in colorectal cancer (CRC). The disruption of TNKS-USP25 complex formation by UAT-B led to a significant decrease in TNKS levels, triggering cell apoptosis through modulation of the Wnt/β-catenin pathway. Importantly, UAT-B successfully inhibited the CRC cells growth that harbored high TNKS levels, as demonstrated in various in vitro and in vivo studies utilizing cell line-based and patient-derived xenografts, as well as APCmin/+ spontaneous CRC models. Collectively, these findings suggest that targeting the TNKS-USP25 PPI using a small-molecule inhibitor represents a compelling therapeutic strategy for CRC treatment, and UAT-B emerges as a promising candidate for further preclinical and clinical investigations.
6.Clinical effects of parallel combined flow-through perforator flaps in the treatment of circular hot crush injuries in limbs with blood supply disorder
Shuping ZHOU ; Shimin LI ; Yingguang SHI ; Liwu ZHENG ; Chaonan CHANG ; Junjie CHEN ; Huanpeng WANG ; Ke SUN ; Xiuhuan WANG ; Linbo LIU
Chinese Journal of Burns 2024;40(7):665-672
Objective:To explore the clinical effects of parallel combined flow-through perforator flaps in the treatment of circular hot crush injuries in limbs with blood supply disorder.Methods:The study was a retrospective observational study. From April 2016 to December 2022, 4 cases with circular hot crush injuries in limbs with blood supply disorder were admitted to the Department of Burns and Plastic Surgery of the 988 th Hospital of Joint Logistics Support Force of PLA, including 3 males and 1 female, aged from 24 to 48 years. Among them, 2 cases were injured in the calf and 2 cases were injured in the forearm. After emergency debridement, the area of skin and soft tissue defects was from 20 cm×20 cm to 44 cm×20 cm. The patients had defects in tibialis anterior and posterior tibial arteries with a length of 13 to 18 cm, and in ulnar and radial arteries with a length of 9 to 12 cm. Flaps were designed and cut, including a flow-through anterolateral thigh perforator flap with area of 20 cm×9 cm to 24 cm×21 cm carrying the descending branch of the lateral circumflex femoral artery and the accompanying veins of 8 to 18 cm in length; and a flow-through posterior tibial artery perforator flap with area of 21 cm×13 cm and 20 cm×14 cm carrying the posterior tibial artery, the accompanying veins with a length of 14 and 17 cm respectively, and the great saphenous vein with a length of 22 and 21 cm. The circular hot crush injury wounds in the calf with blood supply disorder were repaired by a parallel combination of flow-through posterior tibial artery perforator flap and flow-through anterolateral thigh perforator flap, and the circular hot crush injury wounds in the forearm with blood supply disorder were repaired by a parallel combination of bilateral flow-through anterolateral thigh perforator flap, and the injured main vessels were reconstructed. The donor site wounds of flap were closed directly or treated with split-thickness skin grafts from abdomen. After surgery, the blood supply and survival of the flap and distal affected limb, the healing of wounds in the donor and recipient sites, the survival of the skin graft in the flap donor site were observed. During follow-up, the condition of flaps, the appearance, blood supply, and function of affected limbs were observed. At the last follow-up, the foot and ankle functions were evaluated according to the scoring standards of American Orthopedic Foot and Ankle Association, and the wrist and hand function was evaluated according to the trial standard of replantation of amputated upper limb function assessment of the Hand Surgery of Chinese Medical Association. Results:The flaps and distal affected limbs of 4 patients had good blood circulation and successfully survived after surgery. The wounds of 3 cases successfully healed, while one patient with circular hot crush injury in the forearm experienced exudation in the recipient site in the later stage, and the wound healed after re-expansion and suturing. The donor site wounds healed smoothly, and the skin grafts successfully survived. During follow-up of 12 to 24 months after surgery, the flaps were slightly swollen, the limbs had good appearance, normal blood circulation, and fine functional recovery. At the last follow-up, the foot and ankle function of 2 patients with circular hot crush injuries in the calf was evaluated as good in 1 case and commonly in 1 case; the wrist and hand function of 2 patients with circular hot crush injuries in the forearm was evaluated as excellent in 1 case and good in 1 case.Conclusions:The parallel combined flow-through perforator flap can reconstruct the damaged main blood vessels and repair the wound at the same time. It can not only effectively save the limb, but also restore part of the function of the affected limb. It is one of the effective methods to treat the circular hot crush injuries in limbs with blood supply disorder.
7.CT radiomics nomogram for predicting Ki-67 expression of thymus epithelial tumors
Zhengping ZHANG ; Xiaojing HOU ; Zijin LIU ; Kede MI ; Zhitao WANG ; Shuping MENG ; Xingcang TIAN ; Li ZHU
Chinese Journal of Medical Imaging Technology 2024;40(11):1693-1697
Objective To observe the value of CT radiomics nomogram for predicting Ki-67 expression of thymus epithelial tumors.Methods Totally 163 patients with thymus epithelial tumor,including 114 patients in training set and 49 patients in validation set were retrospectively enrolled.The patients were further divided into low expression(<50%)and high expression(≥50%)subgroups according to Ki-67 index.Multivariate logistic regression analysis was performed to screen independent predicting factors of Ki-67 expression in thymus epithelial tumors,and clinical-CT model was constructed.The optimal radiomics features were extracted and screened based on chest plain and venous phase enhanced CT images,respectively.Then radiomics modelplain and radiomics modelenhanced were constructed,and Radscoreplain and Radscoreenhanced were calculated,respectively.The nomogram model was constructed based on clinical-CT model,Radscoreplain and Radscoreenhanced.Receiver operating characteristic curves were drawn,and the area under the curves(AUC)were calculated to evaluate the efficacy of each model for predicting Ki-67 expression of thymus epithelial tumors.Results Patient's gender and enhanced CT value of lesion were both independent predicting factors of Ki-67 expression in thymus epithelial tumors(both P<0.05).The AUC of clinical-CT model,radiomics modelplain,radiomics modelenhanced and nomogram model for predicting Ki-67 expression was 0.736,0.814,0.836 and 0.857 in training set,which was 0.746,0.746,0.750 and 0.799 in validation set,respectively.Conclusion CT radiomics nomogram could be used to predict Ki-6 7 expression of thymus epithelial tumors.
8.Ten years of practice in the operation and quality control of the first human milk bank in East China
Wenjuan CHEN ; Xiaohui CHEN ; Xue CHU ; Beibei LIU ; Yanjie CHEN ; Xiaoshan HU ; Xiangyun YAN ; Shuping HAN
Chinese Journal of Perinatal Medicine 2024;27(7):536-543
Objective:To conduct a phased summary and analysis of the operation and quality control (QC) of the first human milk bank (HMB) in East China over a ten-year period.Methods:Data on the operation of the HMB at Women's Hospital of Nanjing Medical University, characteristics of donors and recipients, clinical application of donated milk, and operational costs from August 1, 2013, to July 31, 2023, were collected, organized, analyzed, and described. Quality and safety management of the HMB began in 2016, with QC measures implemented. Chi-square tests were used to compare data related to the operation of the HMB, donors, and recipient infants before QC (2013-2015) and after QC (2016-2023). Results:Over the ten-year period since its establishment, the HMB received donor human milk (DHM) from 1 974 donors, totaling 9 390.41 liters. The qualification rate of donors was 86.47% (1 707/1 974), with a qualification rate of DHM of 98.01% (9 203.21/9 390.41) and 21 757 donation instances, with the highest individual donation count reaching 195 times. In the past 10 years, due to the epidemic of the new coronavirus in 2020, the number of milk donors, the amount of DHM and the total number of milk donations decreased significantly, but the amount of DHM per capita and the number of milk donations per capita showed a continuous upward trend. Compared to the period before QC, the qualification rate of donors [96.75% (1 253/1 295) vs. 66.86% (454/679), χ 2=340.33, P<0.001] and the qualification rate of DHM [98.19% (8 366.76/8 521.08) vs. 96.22% (836.45/869.33), χ 2=16.33, P<0.001] both improved after QC. A total of 11 197 recipients received 6 615.38 liters of DHM, with a utilization rate of 71.88% (6 615.38/9 203.21). The current operation mode of the HMB is "voluntary donation, free use". Over ten years, the costs for consumables, testing, labor, energy, and fixed assets amounted to 9.36 million CNY, with an operational cost of 996.32 CNY per liter (9.36 million/9 390.41 L) and approximately 1.00 CNY per milliliter of DHM. Conclusions:The hospital's HMB has been operating stably for ten years, and abundant DHM benefits many newborns. QC measures have effectively increased the qualification rates of both donors and DHM, providing better nutritional support for the treatment of critically ill infants. However, the operational costs of the HMB are relatively high, necessitating the exploration of an operational model suitable for China's national conditions.
9.Effect of long non-coding RNA GHET1 on autophagy and drug resistance to cisplatin in head and neck squamous cell carcinoma
Shuping WU ; Jianhong YU ; Yu WU ; Hui LIU
Cancer Research and Clinic 2024;36(7):481-487
Objective:To investigate the effect of long non-coding RNA (lncRNA) GHET1 on autophagy and drug resistance to cisplatin in head and neck squamous cell carcinoma (HNSCC).Methods:Transcriptome sequencing (RNA-seq) data and the related clinical information of tumor samples from 504 HNSCC patients and 43 matched paracancerous tissues (> 2 cm from the tumor primary site margin) were downloaded from the Cancer Genome Atlas (TCGA) database. The data was updated in August 2022. R software was used to analyze the differences of GHET1 expression in cancer tissues, paracancerous tissues and 43 HNSCC matched samples. The data of 32 middle and advanced HNSCC patients who were eligible for surgery in Fujian Cancer Hospital from January 2019 to June 2023 were collected, and the differences of GHET1 expression between 14 patients insensitive to chemotherapy and 18 sensitive to chemotherapy were compared. Human HNSCC cell lines FaDu and Cal27 were selected to establish cisplatin-resistant HNSCC cell lines FADU-DDP-R and CAL27-DDP-R. The cells were transfected with siRNA targeting GHET1 (corresponding siRNA group), and the control group was transfected with negative control siNC. Real-time quantitative polymerase chain reaction (qRT-PCR) was used to detect the relative expression level of GHET1 and Beclin-1mRNA. The expressions of Beclin-1, LC3-Ⅰ/Ⅱ, p63 and GAPDH protein were detected by using Western blot. The autophagy inhibitor 3-methyladenosine (3-MA) was used to treat FADU-DDP-R and CAL27-DDP-R cell lines; the half inhibitory concentration ( IC50), the expression differences of GHET1, Beclin-1 mRNA and autophagy related protein of cisplatin were compared between the drug-resistant cell lines and the drug-resistant cell lines of the 3-MA group. Results:In TCGA database, the relative expression level of GHET1 in 504 HNSCC tissues was higher than that in 43 paracancerous tissues, and the difference was statistically significant ( Z = 2.57, P < 0.05); the relative expression level of GHET1 in 43 HNSCC tissues was higher than that in the paired paracancerous tissues, and the difference was statistically significant ( t = 3.24, P = 0.002). The relative expression level of GHET1 in HNSCC of 18 patients in chemotherapy-sensitive group and 14 patients in chemotherapy-insensitive group was 1.01±0.12 and 2.05±0.26, respectively, and the expression of GHET1 in the chemotherapy-insensitive group was higher than that in the chemotherapy-sensitive group ( t = 15.45, P < 0.001). IC50 of FaDu and FADU-DDP-R cell lines was (35.6±1.9) μmol/L and (86.2±2.7) μmol/L, respectively, and the difference was statistically significant ( t = 26.64, P < 0.001). The IC50 of Cal27 and CAL27-DDP-R cell lines was (68.8±8.9) μmol/L and (115.0±8.2) μmol/L, respectively, and the difference was statistically significant ( t = 6.60, P < 0.01). The relative expression levels of GHET1 in FaDu and FADU-DDP-R cell lines were 1.00±0.10 and 3.57±0.07, respectively ( t = 33.85, P < 0.001), and the relative expression level of GHET1 in FADU-DDP-R cell lines was higher than that in FaDu cell lines. The relative expression levels of GHET1 in Cal27 and Cal27-DDP-R cell lines were 1.00±0.08 and 2.06±0.11, respectively ( t = 13.25, P < 0.001), and the relative expression level of GHET1 in Cal27-DDP-R cell lines was higher than that in Cal27 cell lines. Western blot showed that the relative expression levels of autophagy related proteins Beclin-1, LC3-Ⅰ, LC3-Ⅱ and p63 in FADU-DDP-R and CAL27-DDP-R cell lines were higher than those in FaDu and Cal27 cell lines (all P < 0.05). The results of qRT-PCR showed that the relative expression levels of GHET1 in FADU-DDP-R cell lines in the control group and siGHET1 group were 1.00±0.12 and 0.20±0.06, respectively ( t = 10.52, P < 0.001). The relative expression levels of GHET1 in CAL27-DDP-R cell lines in the control group and siGHET1 group were 1.00±0.09 and 0.51±0.03, respectively ( t = 8.90, P < 0.001). The relative expression level of GHET1 in the knockdown group of the 2 cell lines was lower than that of the corresponding drug-resistant cell lines. The relative expression levels of Beclin-1 mRNA in FADU-DDP-R cell line in the control group and siGHET1 group were 1.00±0.09 and 0.60±0.07, respectively ( t = 6.08, P < 0.01); the relative expression levels of Beclin-1 mRNA in Cal27-DDP-R cell lines in the control group and siGHET1 group were 1.00±0.14 and 0.65±0.04, respectively ( t = 4.31, P < 0.05); the relative expression levels of Beclin-1 mRNA in drug-resistant cell lines after knocking down GHET1 were lower than those in corresponding drug-resistant cell lines. Western blot showed that the relative expression levels of Beclin-1, LC3-Ⅰ, LC3-Ⅱ and p63 in the knockdown group of drug-resistant cell lines were lower than those in the corresponding drug-resistant cells group. The cisplatin IC50 of drug-resistant cell lines in siGHET1 group was lower than that of the corresponding drug-resistant cell lines (all P < 0.05), and the cisplatin IC50 of drug-resistant cell lines in 3-MA group was lower than that of the corresponding drug-resistant cell lines (all P < 0.05). Conclusions:LncRNA GHET1 could induce the resistance to cisplatin by activating the autophagy in HNSCC.
10.Analysis of Clinical Phenotype and Pathogenic Variations in Two Families with Branchio-oto Syndrome
Wanli HE ; Hong'en XU ; Mengli LIU ; Teng ZHANG ; Shuping SUN ; Wei LU
Journal of Audiology and Speech Pathology 2024;32(3):206-211
Objective To study the causes of two Chinese families with Branchio-oto syndrome.Methods The clinical data of two families were collected,and the pathogenic genes and variants of Branchio-oto syndrome were screened and verified by whole exome sequencing and Sanger sequencing.Results Two proband patients were diagnosed with Branchio-oto syndrome.Proband 1 presented with preauricular and anterior cervical fistulas,as well as congenital severe sensorineural hearing loss.On the other hand,proband 2 displayed a preauricular fistula and an anterior cervical cyst.At the age of 5,progressive deterioration of binaural hearing was observed,leadingtothe cur-rent diagnosis of severe mixed deafness.Genetic analysis showed that proband 1 and 2 carried nonsense variants of EYA1 gene:NM_000503.6:c.1408G>T(p.Glu470Ter),and c.889C>T(p.Arg297Ter).According to the guide-lines of the American College of Medical Genetics and Genomics(ACMG),the above variants were rated as patho-genic variants.After reviewing the literature,the c.1408G>T variant had not been previously reported,and the c.889C>T is a known variant.Conclusion The variants c.1408G>T(p.Glu470Ter)and c.889C>T(p.Arg297Ter)of EYA1 gene are the cause of these two families with Branchio-oto syndrome.The first report of c.1408G>T broadens the mutational spectrum of EYA1 gene and provids a clinical reference for the diagnosis of Branchio-oto syndrome.


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