1.Observation of acute clinical manifestations of cosmetology-related ocular damage
Jian JIAO ; Wen HUA ; Chongyang SHE ; Weiwei ZHU ; Xuedong LI
International Eye Science 2024;24(7):1152-1156
AIM: To investigate the acute clinical manifestations of cosmetology-related ocular damage(COD).METHODS:Retrospective study. A total of 53 cases(89 eyes)with ocular damage caused by cosmetology from April 2016 to October 2021 were collected. The clinical features were analyzed, including age, gender, affected eye(s), clinical manifestations, injury cause, treatment procedures, and prognosis.RESULTS: All 53 patients were female, aged 22-45 years, with an average age of 28.4±6.7 years. Monocular injuries were observed in 17 patients, and binocular injuries in 36 patients. The same eye could exhibit two or more ocular damage simultaneously. The primary cosmetology procedures causing COD were eyeliner tattooing(38 eyes; 43%), eyelash extensions(18 eyes; 20%), removal of false eyelashes(11 eyes; 12%), mascara application(8 eyes; 9%), double eyelid surgery(6 eyes; 7%), and others(8 eyes; 9%). Major ocular damages included corneal damage(56 eyes; 63%), eyelid contact dermatitis(26 eyes; 29%), conjunctivitis(19 eyes; 21%), reactive eyelid edema(13 eyes; 15%), ocular surface foreign bodies(12 eyes; 14%), bacterial infection of the palpebral margin(10 eyes; 11%), and others(5 eyes; 6%). These 5 eyes included 1 eye(1%)with central retinal artery occlusion caused by periocular injection of hyaluronic acid. The majority of patients(74 eyes)recovered within 1-2 wk with appropriate treatment, while filamentosa keratitis appeared in 3 eyes and the eye with central retinal artery occlusion had poor prognosis.CONCLUSIONS: COD predominantly occurs in young and middle-aged females with cosmetology experience. The most common cosmetology procedure leading to COD is eyeliner tattooing, and corneal damage is the most significant type of COD. COD can be effectively prevented and treated, resulting in a generally favorable prognosis.
2.Construction and validation of a risk prediction model for post-operative complications of carotid artery stenting
Ting LU ; Jianhong WANG ; Chaoyang XUE ; Yu FAN ; Xianxiu WEN ; Jie YANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(9):1035-1038
Objective To investigate the risk factors for complications within 1 year after carotid artery stenting(CAS),construct a prediction model for these complications based on the identi-fied risk factors,and then validate the efficacy of the model.Methods A retrospective trial was conducted on 313 patients undergoing CAS in our hospital between January 2017 and December 2021.Based on the sequence of postoperative follow-up visits,these patients were categorized into a modeling group(235 cases)and a validation group(78 cases)in a ratio of 3∶1,and the patients of the modeling group was further assigned into non-complication(182 cases)and complication subgroups(53 cases).The general data were compared between the modeling and balidation groups,and univariate and multivariate logistic regression analyses were applied to identify risk factors for the risk factors for the complications,and then a prediction model was constructed using logistic scoring.ROC curve analysis was employed to evaluate the performance of the model by using AUC value.Results Multivariate logistic regression analysis revealed that non-compli-ance with antiplatelet medication(OR=65.656,95%CI:12.052-357.683,P=0.000),and abnor-mal BMI(OR=2.298,95%CI:1.023-5.163,P=0.044),cigarette history(OR=5.965,95%CI:2.527-14.079,P=0.000),and high LDL-C(OR=6.290,95%CI:1.828-21.645,P=0.004)were independent risk factors for complications occurrence within 1 year after CAS surgery.The AUC value was 0.827 for the modeling group and 0.806 for the validation group.Conclusion Non-com-pliance to antiplatelet medication,abnormal BMI,smoking history,and high LDL-C level are inde-pendent risk factors for complications occurrence within 1 year after CAS.Our developed ABCD risk prediction model demonstrates good discrimination and accuracy,and can provide valuable guid-ance for the early identification and prevention of complications following CAS surgery in clinical practice.
3.Automated identification and localization of inferior vena cava based on ultrasound images
Jinghan YANG ; Ziye CHEN ; Jingyuan SUN ; Wen CAO ; Chaoyang LÜ ; Shuo LI ; Mingqiu LI ; Pu ZHANG ; Jingzhou XU ; Chang ZHOU ; Yuxiang YANG ; Fu ZHANG ; Qingli LI ; Ruijun GUO ; Jiangang CHEN
Academic Journal of Naval Medical University 2024;45(9):1107-1112
Objective To explore the automated identification and diameter measurement methods for inferior vena cava (IVC) based on clinical ultrasound images of IVC. Methods An automated identification and localization method based on topology and automatic tracking algorithm was proposed. Tracking algorithm was used for identifying and continuously locating to improve the efficiency and accuracy of measurement. Tests were conducted on 18 sets of ultrasound data collected from 18 patients in intensive care unit (ICU),with clinicians' measurements as the gold standard. Results The recognition accuracy of the automated method was 94.44% (17/18),and the measurement error of IVC diameter was within the range of±1.96s (s was the standard deviation). The automated method could replace the manual method. Conclusion The proposed IVC automated identification and localization algorithm based on topology and automatic tracking algorithm has high recognition success rate and IVC diameter measurement accuracy. It can assist clinicians in identifying and locating IVC,so as to improve the accuracy of IVC measurement.
4.Comparison of small-sized tube drainage and traditional drainage after uniportal thoracoscopic lung wedge-resection
Zhoujunyi TIAN ; Fei XIAO ; Hongxiang FENG ; Zhenrong ZHANG ; Huanshun WEN ; Jin ZHANG ; Chaoyang LIANG
Chinese Journal of Thoracic and Cardiovascular Surgery 2024;40(6):369-373
Objective:To assess the merits and demerits of placing small-sized tube as drainage compared with traditional drainage in patients after uniportal thoracoscopic lung wedge-resection.Methods:Patients who received uniportal video-assisted thoracoscopic surgery (U-VATS) lung wedge-resection were identified in our database. Patients placed small-sized tube drainage were compared with those placed traditional 28 Fr chest tube in terms of characteristics, perioperative outcomes. Propensity score matching was performed to balance the baseline of the patients.Results:Of the 178 enrolled patients, 121 were assigned to conventional tube group and 57 were assigned to small-sized tube group. After matching, 36 pairs of patients from the two groups were selected for statistical comparison. Compared with the traditional drainage group, the operation duration of the small-sized tube group was shorter[0.83(0.75, 1.04)h vs.1.08(0.96, 1.41)h, P=0.003], intraoperative blood loss was less [5(5, 10) ml vs. 10(7.5, 10) ml, P=0.001), postoperative total drainage volume was less[67.5(30, 190)ml vs.175(120, 365)ml, P<0.001], and postoperative pain score was lower[0.3(0.3, 0.7) vs.0.7(0.3, 2.2), P<0.05]. No significant difference was observed in the incidence of small amount of pneumothorax or small amount of pleural effusion before extubation between the two groups. The incidence of postoperative complications was relatively low and there was no significant difference between the two groups. Conclusion:Compared to conventional chest tube, small-sized tube for postoperative drainage after U-VATS lung wedge-resection, may be a feasible and promising approach to reduce postoperative pain and promote recovery.
5.Impact of LncRNA TUG1 on high glucose-induced cardiomyocyte apoptosis by regulating the miR-181b-5p/PDCD4 axis
Chaoyang LYU ; Ting HUANG ; Zaige XU ; Huishuang LIU ; Yingjun YANG ; Zhenzhen LI ; Wen AO
Tianjin Medical Journal 2023;51(12):1281-1288
Objective To investigate the impact of long non-coding RNA(LncRNA)taurine up-regulated gene 1(TUG1)on high glucose-induced cardiomyocyte apoptosis by regulating miR-181b-5p/programmed cell death protein 4(PDCD4)axis.Methods Diabetic cardiomyopathy(DCM)cell model was established in vitro with high glucose(HG,25 mmol/L glucose).AC16 cells were divided into the NG(5.5 mmol/L glucose)group,the HG group,the HG+sh-NC group,the HG+sh-TUG1 group,the HG+miR-NC group,the HG+miR-181b-5p group,the HG+sh-TUG1+anti-miR-NC group,the HG+sh-TUG1+anti-miR-181b-5p group,the HG+miR-181b-5p+pcDNA group and HG+miR-181b-5p+pc-PDCD4 group.The Cell Counting Kit-8(CCK-8)method was applied to detect cell viability.Lactate dehydrogenase(LDH)assay was applied to detect LDH release.Quantitative real-time polymerase chain reaction(qRT-PCR)was applied to detect expression levels of TUG1,miR-181b-5p and PDCD4 mRNA.Flow cytometry was applied to detect apoptosis.Western blot assay was applied to detect levels of B-cell lymphoma 2-associated X(Bax),activated caspase 3(cleaved caspase 3)and PDCD4 proteins.Caspase-Glo3 assay was applied to assess caspase 3 activity.Dual-luciferase reporter assay was applied to verify the targeting relationship between TUG1 or PDCD4 and miR-181b-5p.Results Compared with the NG group,the cell activity decreased in the HG group,and LDH release,apoptosis rate,Bax,cleaved caspase 3 expression and caspase 3 activity increased(P<0.05),which could be antagonized by TUG1 knockdown or miR-181b-5p overexpression(P<0.05).Inhibition of miR-181b-5p was able to alleviate the impact of TUG1 silencing on cardiomyocyte viability and apoptosis under high glucose treatment(P<0.05).The overexpression of PDCD4 attenuated the promotion effect of miR-181b-5p up-regulation on the viability of cardiomyocytes treated with high glucose and the inhibitory effect on apoptosis.TUG1 was able to increase the expression of PDCD4 through adsorption of miR-181b-5p(P<0.05).Conclusion TUG1 promotes high glucose-induced cardiomyocyte apoptosis by down-regulating miR-181b-5p and up-regulating PDCD4.
6.Risk factors of postoperative acute pain after thoracoscopic surgery for patients with early-stage lung adenocarcinoma
Fei XIAO ; Hongxiang FENG ; Junyi TIANZHOU ; Huanshun WEN ; Kunsong SU ; Zhenrong ZHANG ; Chaoyang LIANG ; Deruo LIU
Chinese Journal of Thoracic and Cardiovascular Surgery 2023;39(2):96-100
Objective:To improve the understanding of acute pain after thoracoscopic surgery in patients with early-stage lung adenocarcinoma, to analyze and screen out the independent risk factors that may induce acute postoperative pain. The patients' surgery experience may get improved through the corresponding timely and effective interventions.Methods:We retrospectively reviewed the clinical data of 204 patients with early-stage lung adenocarcinoma who were treated by a single medical team of our center from May 2021 to October 2021, and analyzed the assessment results of acute postoperative pain. Patients were grouped according to the general condition, past medical history, social and spiritual attributes, lesion characteristics, surgical approaches and anesthetic methods. Comparison of proportions of acute postoperative pain between the groups were made, and independent risk factors were identified.Results:A total of 84 males and 120 females were enrolled, with a mean age of(57.9±11.5)years old and a median operation time of 120(110, 145) min. No serious complication or perioperative death occurred in the whole group. Postoperative pain control failed in 76 cases(37.3%), 24 cases(11.8%) suffered from severe postoperative pain, and 33 cases(16.2%) required additional intramuscular injection of strong analgesics after surgery. Those who were younger than 60 years old, with a university degree or above, received two-incision surgery, operated for more than 2 h, received general anesthesia only, or in a state of depression, had significantly higher rates of postoperative acute pain, compared with their respective control groups( P<0.05). The independent risk factors for acute pain after thoracoscopic surgery included age( P=0.002), history of alcoholism( P=0.014), number of incisions( P=0.016), operation time( P=0.010), depression status( P=0.037) and enhanced anesthetic method( P=0.012). Conclusion:A large amount of patients with early-stage lung cancer suffered from acute pain after thoracoscopic surgery, which seriously affected their treatment experience and even quality of life. Young patients with a history of alcoholism and depression status were high-risk groups for postoperative acute pain. Applying Uniportal video-assisted thoracoscopic surgery, reducing the operation time as much as possible, and choosing enhanced analgesic anesthesia represented by epidural block combined with general anesthesia might be effective ways to reduce the probability of acute postoperative pain.
7.Assessment of the diagnostic value and prognosis of different detection markers in endocervical adenocarcinoma.
Chang Ning ZHANG ; Xiao Yang LIU ; Qing LI ; Yi Zhe SONG ; Bin LIU ; Jian YIN ; Jing Hong YANG ; Li ZHONG ; Li SUN ; Xun ZHANG ; Wen CHEN
Chinese Journal of Oncology 2023;45(5):402-409
Objective: To study the diagnostic value of different detection markers in histological categories of endocervical adenocarcinoma (ECA), and their assessment of patient prognosis. Methods: A retrospective study of 54 patients with ECA in the Cancer Hospital, Chinese Academy of Medical Sciences from 2005-2010 were performed. The cases of ECA were classified into two categories, namely human papillomavirus-associated adenocarcinoma (HPVA) and non-human papillomavirus-associated adenocarcinoma (NHPVA), based on the 2018 international endocervical adenocarcinoma criteria and classification (IECC). To detect HR-HPV DNA and HR-HPV E6/E7 mRNA in all patients, we used whole tissue section PCR (WTS-PCR) and HPV E6/E7 mRNA in situ hybridization (ISH) techniques, respectively. Additionally, we performed Laser microdissection PCR (LCM-PCR) on 15 randomly selected HR-HPV DNA-positive cases to confirm the accuracy of the above two assays in identifying ECA lesions. Receiver operating characteristic (ROC) curves were used to analyze the efficacy of markers to identify HPVA and NHPVA. Univariate and multifactorial Cox proportional risk model regression analyses were performed for factors influencing ECA patients' prognoses. Results: Of the 54 patients with ECA, 30 were HPVA and 24 were NHPVA. A total of 96.7% (29/30) of HPVA patients were positive for HR-HPV DNA and 63.3% (19/30) for HR-HPV E6/E7 mRNA, and 33.3% (8/24) of NHPVA patients were positive for HR-HPV DNA and HR-HPV E6/E7 mRNA was not detected (0/24), and the differences were statistically significant (P<0.001). LCM-PCR showed that five patients were positive for HR-HPV DNA in the area of glandular epithelial lesions and others were negative, which was in good agreement with the E6/E7 mRNA ISH assay (Kappa=0.842, P=0.001). Analysis of the ROC results showed that the AUC of HR-HPV DNA, HR-HPV E6/E7 mRNA, and p16 to identify HPVA and NHPVA were 0.817, 0.817, and 0.692, respectively, with sensitivities of 96.7%, 63.3%, and 80.0% and specificities of 66.7%, 100.0%, and 58.3%, respectively. HR-HPV DNA identified HPVA and NHPVA with higher AUC than p16 (P=0.044). The difference in survival rates between HR-HPV DNA (WTS-PCR assay) positive and negative patients was not statistically significant (P=0.156), while the difference in survival rates between HR-HPV E6/E7 mRNA positive and negative patients, and p16 positive and negative patients were statistically significant (both P<0.05). Multifactorial Cox regression analysis showed that International Federation of Obstetrics and Gynecology (FIGO) staging (HR=19.875, 95% CI: 1.526-258.833) and parametrial involvement (HR=14.032, 95% CI: 1.281-153.761) were independent factors influencing the prognosis of patients with ECA. Conclusions: HR-HPV E6/E7 mRNA is more reflective of HPV infection in ECA tissue. The efficacy of HR-HPV E6/E7 mRNA and HR-HPV DNA (WTS-PCR assay) in identifying HPVA and NHPVA is similar, with higher sensitivity of HR-HPV DNA and higher specificity of HR-HPV E6/E7 mRNA. HR-HPV DNA is more effective than p16 in identifying HPVA and NHPVA. HPV E6/E7 mRNA and p16 positive ECA patients have better survival rates than negative.
Female
;
Humans
;
Papillomavirus Infections/diagnosis*
;
Retrospective Studies
;
Uterine Cervical Neoplasms/pathology*
;
Prognosis
;
Oncogene Proteins, Viral/genetics*
;
Human Papillomavirus Viruses
;
Adenocarcinoma/pathology*
;
RNA, Messenger/genetics*
;
Papillomaviridae/genetics*
;
RNA, Viral/genetics*
8.Evaluation of the efficacy and safety of Nocardia rubra cell wall skeleton immunotherapy for cervical high-risk HPV persistent infection.
Fei CHEN ; Wen DI ; Yuan Jing HU ; Chang Zhong LI ; Fei WANG ; Hua DUAN ; Jun LIU ; Shu Zhong YAO ; You Zhong ZHANG ; Rui Xia GUO ; Jian Dong WANG ; Jian Liu WANG ; Yu Quan ZHANG ; Min WANG ; Zhong Qiu LIN ; Jing He LANG
Chinese Journal of Obstetrics and Gynecology 2023;58(7):536-545
Objective: To evaluate the efficacy and safety of Nocardia rubra cell wall skeleton (Nr-CWS) in the treatment of persistent cervical high-risk human papillomavirus (HR-HPV) infection. Methods: A randomized, double blind, multi-center trial was conducted. A total of 688 patients with clinically and pathologically confirmed HR-HPV infection of the cervix diagnosed in 13 hispital nationwide were recruited and divided into: (1) patients with simple HR-HPV infection lasting for 12 months or more; (2) patients with cervical intraepithelial neoplasia (CIN) Ⅰ and HR-HPV infection lasting for 12 months or more; (3) patients with the same HR-HPV subtype with no CINⅡ and more lesions after treatment with CINⅡ or CIN Ⅲ (CINⅡ/CIN Ⅲ). All participants were randomly divided into the test group and the control group at a ratio of 2∶1. The test group was locally treated with Nr-CWS freeze-dried powder and the control group was treated with freeze-dried powder without Nr-CWS. The efficacy and negative conversion rate of various subtypes of HR-HPV were evaluated at 1, 4, 8, and 12 months after treatment. The safety indicators of initial diagnosis and treatment were observed. Results: (1) This study included 555 patients with HR-HPV infection in the cervix (included 368 in the test group and 187 in the control group), with an age of (44.1±10.0) years. The baseline characteristics of the two groups of subjects, including age, proportion of Han people, weight, composition of HR-HPV subtypes, and proportion of each subgroup, were compared with no statistically significant differences (all P>0.05). (2) After 12 months of treatment, the effective rates of the test group and the control group were 91.0% (335/368) and 44.9% (84/187), respectively. The difference between the two groups was statistically significant (χ2=142.520, P<0.001). After 12 months of treatment, the negative conversion rates of HPV 16, 18, 52, and 58 infection in the test group were 79.2% (84/106), 73.3% (22/30), 83.1% (54/65), and 77.4% (48/62), respectively. The control group were 21.6% (11/51), 1/9, 35.1% (13/37), and 20.0% (8/40), respectively. The differences between the two groups were statistically significant (all P<0.001). (3) There were no statistically significant differences in vital signs (body weight, body temperature, respiration, pulse rate, systolic blood pressure, diastolic blood pressure, etc.) and laboratory routine indicators (blood cell analysis, urine routine examination) between the test group and the control group before treatment and at 1, 4, 8, and 12 months after treatment (all P>0.05); there was no statistically significant difference in the incidence of adverse reactions related to the investigational drug between the two groups of subjects [8.7% (32/368) vs 8.0% (15/187), respectively; χ2=0.073, P=0.787]. Conclusion: External use of Nr-CWS has good efficacy and safety in the treatment of high-risk HPV persistent infection in the cervix.
Female
;
Humans
;
Adult
;
Middle Aged
;
Cervix Uteri/pathology*
;
Uterine Cervical Neoplasms/pathology*
;
Papillomavirus Infections/diagnosis*
;
Cell Wall Skeleton
;
Persistent Infection
;
Powders
;
Uterine Cervical Dysplasia/pathology*
;
Immunotherapy
;
Papillomaviridae
9.The performance of digital chest radiographs in the detection and diagnosis of pulmonary nodules and the consistency among readers.
Min LIANG ; Shi Jun ZHAO ; Li Na ZHOU ; Xiao Juan XU ; Ya Wen WANG ; Lin NIU ; Hui Hui WANG ; Wei TANG ; Ning WU
Chinese Journal of Oncology 2023;45(3):265-272
Objective: To investigate the detection and diagnostic efficacy of chest radiographs for ≤30 mm pulmonary nodules and the factors affecting them, and to compare the level of consistency among readers. Methods: A total of 43 patients with asymptomatic pulmonary nodules who consulted in Cancer Hospital, Chinese Academy of Medical Sciences from 2012 to 2014 and had chest CT and X-ray chest radiographs during the same period were retrospectively selected, and one nodule ≤30 mm was visible on chest CT images in the whole group (total 43 nodules in the whole group). One senior radiologist with more than 20 years of experience in imaging diagnosis reviewed CT images and recording the size, morphology, location, and density of nodules was selected retrospectively. Six radiologists with different levels of experience (2 residents, 2 attending physicians and 2 associate chief physicians independently reviewed the chest images and recorded the time of review, nodule detection, and diagnostic opinion. The CT imaging characteristics of detected and undetected nodules on X images were compared, and the factors affecting the detection of nodules on X-ray images were analyzed. Detection sensitivity and diagnosis accuracy rate of 6 radiologists were calculated, and the level of consistency among them was compared to analyze the influence of radiologists' seniority and reading time on the diagnosis results. Results: The number of nodules detected by all 6 radiologists was 17, with a sensitivity of detection of 39.5%(17/43). The number of nodules detected by ≥5, ≥4, ≥3, ≥2, and ≥1 physicians was 20, 21, 23, 25, and 28 nodules, respectively, with detection sensitivities of 46.5%, 48.8%, 53.5%, 58.1%, and 65.1%, respectively. Reasons for false-negative result of detection on X-ray images included the size, location, density, and morphology of the nodule. The sensitivity of detecting ≤30 mm, ≤20 mm, ≤15 mm, and ≤10 mm nodules was 46.5%-58.1%, 45.9%-54.1%, 36.0%-44.0%, and 36.4% for the 6 radiologists, respectively; the diagnosis accuracy rate was 19.0%-85.0%, 16.7%-6.5%, 18.2%-80.0%, and 0%-75.0%, respectively. The consistency of nodule detection among 6 doctors was good (Kappa value: 0.629-0.907) and the consistency of diagnostic results among them was moderate or poor (Kappa value: 0.350-0.653). The higher the radiologist's seniority, the shorter the time required to read the images. The reading time and the seniority of the radiologists had no significant influence on the detection and diagnosis results (P>0.05). Conclusions: The ability of radiographs to detect lung nodules ≤30 mm is limited, and the ability to determine the nature of the nodules is not sufficient, and the increase in reading time and seniority of the radiologists will not improve the diagnostic accuracy. X-ray film exam alone is not suitable for lung cancer diagnosis.
Humans
;
Retrospective Studies
;
Solitary Pulmonary Nodule/diagnostic imaging*
;
Radiography
;
Multiple Pulmonary Nodules/diagnostic imaging*
;
Tomography, X-Ray Computed/methods*
;
Lung Neoplasms/diagnostic imaging*
;
Sensitivity and Specificity
;
Radiographic Image Interpretation, Computer-Assisted/methods*
10.Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant.
Li Hui HUANG ; Xue Lei ZHAO ; Xiao Hua CHENG ; Yi Ding YU ; Cheng WEN ; Yue LI ; Xian Lei WANG ; Xue Yuao WANG ; Yu RUAN ; Hui EN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2023;58(2):117-125
Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.
Female
;
Humans
;
Male
;
Alleles
;
Deafness/genetics*
;
DNA Copy Number Variations
;
Forkhead Transcription Factors/genetics*
;
Genotype
;
Hearing Loss/genetics*
;
Hearing Loss, Sensorineural/genetics*
;
Mutation
;
Phenotype
;
Sulfate Transporters/genetics*
;
Vestibular Aqueduct
;
Infant, Newborn
;
Potassium Channels, Inwardly Rectifying/genetics*

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