Objective:To explore the trend of hearing changes in infants with GJB2 gene p.V37I mutation at different months. Methods:The subjects were 54 children（108 ears） with p.V37I homozygous or compound heterozygous mutation in GJB2 gene. All the subjects underwent auditory brainstem response, auditory steady-state response, acoustic immittance and other audiological tests. Children were divided into three groups according to their age, 26 cases in group A were ≤3 months old, 17 cases in group B were>3~≤6 months old, and 11 cases in group C were>6 months old. Statistical analysis was performed on the three groups of ABR response threshold, hearing degree, the ASSR average response threshold of four frequencies and the ASSR response thresholds for each frequency of 500, 1 000, 2 000 and 4 000 Hz. Results:Among the 54 cases, 35 were male and 19 were female, with an age rang of 2-27 months and a median age of 4 months. The ABR response threshold of the three groups were ranked from low to high as group A, group B and group C, and the difference was statistically significant（P<0.05）. The ABR response thresholds of the three groups were ranked from low to high as group A, group B, and group C. The comparison between groups showed that the ABR response thresholds of group C was higher than that of group A（P=0.006）. The proportion of confirmed hearing loss in the three groups was 34.61%, 50.00% and 63.64%, respectively, and the difference of hearing level among the three groups was statistically significant（P<0.05）. The comparison between groups showed that the difference between group A and group C was statistically significant（P=0.012）, normal hearing accounted for the highest proportion in group A（65.39%）, while mild hearing loss accounted for the highest proportion in group C（45.46%）. The ASSR average response thresholds of the four frequencies in the three groups were ranked from low to high as group A, group B and group C, and the difference is statistically significant（P<0.05）. The comparison between groups showed that response ASSR thresholds of group C was higher than that of group A（P=0.002）. Response thresholds of ASSR in each frequency in the three groups were all ranked from low to high as in group A, group B and group C, and the differences were statistically significant（P<0.05）. Compared with each other between groups, response ASSR thresholds of group C was higher than those of group A（P=0.003） and group B（P=0.015） at 500 Hz, while response ASSR thresholds of group C was higher than group A at 1 000 Hz（P=0.010） and 2 000 Hz（P<0.001）, and there was no statistical difference at 4 000 Hz. Conclusion:The incidence of hearing loss in GJB2 gene p.V37I mutation increased with age, and the degree of hearing loss increased, the hearing progression was mainly 500, 1 000 and 2 000 Hz suggesting regular follow-up and alert to hearing changes.
Humans ; Connexin 26 ; Male ; Female ; Infant ; Child, Preschool ; Mutation ; Evoked Potentials, Auditory, Brain Stem ; Connexins/genetics* ; Auditory Threshold ; Hearing/genetics* ; Hearing Loss/genetics*

Objective:To explore the feasibility of the multiple-choice auditory graphical interactive check（MAGIC） screening module in childhood hearing screening in children aged 3 to 6 years. Methods:A hearing screening was conducted on 366 children（732 ears） aged between 3 and 6 years. The screening methods included MAGIC, DPOAE, and acoustic immittance.The cooperation, screening time, pass rate, and correlation of the three screening methods were compared. Results:There was a statistically significant difference in the degree of cooperation among the three screeningmethods（P=0.004）.The MAGIC pure tone screening method was 98.6%, the screening DPOAE was 99.5%,and the acoustic immittance screening was 100%. For the screening duration, the MAGIC pure tone screening method was（116.3±59.1）s, the screening DPOAE was（27.2±19.7）s, and the acoustic impedance screening was（24.6±14.6）s. There was a significant statistical significance differences among the three or two groups（P<0.01）. The passing rates of MAGIC pure tone screening,screening DPOAE and acoustic immittance screening were 64.7%, 65.4%, and 69.3%, respectively, and there was no significant statistical difference among the three or two groups（P>0.05）. There was no significant difference between MAGIC pure tone screening method and screening DPOAE（P=0.827>0.05）, and acoustic impedance（P=0.653>0.05）, while the difference between screening DPOAE and acoustic impedance was statistically significant（P<0.01）. Conclusion:MAGIC pure sound screening method has good feasibility, can comprehensively reflect the hearing level of screened children, and can be promoted for hearing screening in children aged between 3 and 6 years.
Humans ; Child, Preschool ; Child ; Female ; Male ; Audiometry, Pure-Tone ; Mass Screening/methods* ; Feasibility Studies ; Acoustic Impedance Tests/methods* ; Hearing Loss/diagnosis* ; Hearing Tests/methods*

Objective:To explore the hearing changes of children with different genotypes of SLC26A4 with enlarged vestibular aqueduct（EVA） using the linear mixed effect model（LMM）, providing evidence for the risk prediction of progressive hearing loss. Methods:A total of 48 children with EVA diagnosed in our hospital from January 2017 to January 2024. All subjects underwent two or more auditory tests. According to the results of deafness gene screening and sequencing, the genotypes are divided into: type A: homozygous mutation of c. 919-2A>G, type B: compound heterozygous or heterozygous mutation containing c. 919-2A>G, and type C: no mutation site of c. 919-2A>G of SLC26A4 gene. LMM was used to analyze the hearing thresholds change of 500 Hz, 1 000 Hz, 2 000 Hz, 4 000 Hz and the average in children with different genotypes with age. Results:A total of 92 ears, 314 audiograms of 48 children were included, the median number of audiograms was 3, the median age of initial diagnosis was 4 months, and the median follow-up time was 13 months. According to LMM, the standard deviation of random effects between patients and ears was large. There was no significant difference in hearing thresholds of different frequencies and the average in genotype A, genotype B, and genotype C, indicating that genotype had no effect on hearing threshold. There is an interaction between age and genotype. Taking genotype C as the reference, children with genotype B had the lowest increase in 500 Hz, 1000 Hz, and the average hearing threshold, followed by type A. Conclusion:EVA children exhibit substantial inter-individual/ear hearing threshold variability. Low-frequency thresholds progress slower than high frequencies. Genotype modulates progression rates, with wild-type（Type C） demonstrating fastest deterioration, supporting personalized auditory monitoring strategies.
Humans ; Vestibular Aqueduct/abnormalities* ; Genotype ; Sulfate Transporters ; Mutation ; Auditory Threshold ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Child, Preschool ; Hearing Loss/genetics* ; Hearing Tests ; Linear Models ; Infant

OBJECTIVE To analyze the difference of genotypes and hearing phenotypes in infants with biallelic allele variant in GJB2,and to provide reference for clinical practice. METHODS One hundred and forty-two subjects with biallelic allele variant in GJB2 were recruited in Beijing Tongren Hospital from August 2012 to March 2024. All subjects received universal newborn hearing screening(UNHS),neonatal deafness genetic screening and audiological tests. The subjects were divided into three groups according to the genotypes:T/T groups(truncated/truncated mutations,59 cases),T/NT group(truncated/non-truncated mutations,50 cases) and NT/NT group(non-truncated/non-truncated mutations,33 cases). Three groups of genotypes,newborn hearing screening results,age at first diagnosis and hearing diagnosis results were analyzed. RESULTS The homozygous mutation of c.235delC/c.235delC was the dominant in T/T group(57.63％),the compound heterozygous mutation of c.235delC/c.109G>A was the dominant in T/NT group(74.00％),and the homozygous mutation of c.109G>A/c.109G>A was the dominant in NT/NT group(96.97％). The overall refer rate of UNHS was 80.28％,and the refer rate of T/T group was 89.83％,which was significantly higher than that of T/NT group 70.00％(P=0.009). The age of first diagnosis of 142 cases was (3.70±1.56) months,there was no significant difference between the three groups(P>0.05). In 142 cases,104 cases with hearing loss accounted for 73.24％,38 cases with normal hearing accounted for 26.76％. The proportion of confirmed hearing loss in T/T group was 100.00％,which was significantly higher than that in T/NT group 52.00％(P<0.001) and NT/NT group 57.58％(P<0.001). In side of hearing loss,of the 104 patients with hearing loss,86 cases(82.69％) had bilateral hearing loss and 18 cases(17.31％) had unilateral hearing loss. The proportion of bilateral hearing loss in T/T group was 100.00％,which was significantly higher than that in T/NT group 57.69％(P<0.001) and NT/NT group 63.16％(P<0.001). Among 190 ears of 104 patients with hearing loss,the degree of hearing loss was predominantly mild to moderate(63.16％),followed by profound(24.74％) and severe(12.10％). Among them,the T/T group was mainly marked by severe to profound hearing loss(58.47％),while both the T/NT group and the NT/NT group were mainly characterized by mild hearing loss(58.54％ and 74.19％),and the differences among the three groups were statistically significant(P<0.001). CONCLUSION In the T/T group,all patients were diagnosed as bilateral hearing loss at first diagnosis,and was mainly severe and profound hearing loss. The bilateral and unilateral hearing loss were 52.00％ and 57.58％ in the T/NT group and NT/NT group at first diagnosis respectively,and was mainly mild hearing loss.

Objective To study the prognostic factors of progressive hearing loss among children with large vestibular aqueduct syndrome(LVAS).Methods The clinical data of 49 children(95 ears)with LVAS who re-ceived at least two hearing tests from January 2017 to January 2023 in our hospital were retrospectively analyzed,and they were divided into two groups according to the progression of hearing loss:the stable group(55 ears)and the progressive group(40 ears).The effects for progressive hearing loss of initial age,gender,laterality,imaging features,audiometric data,and incomplete partition type Ⅱ(IP-Ⅱ)and SLC26A4(type A,B,C,D)genotypes were analyzed by univariate and multivariate Cox regression analysis.The potential prognostic factors were further verified by Kaplan-Meier survival analysis.Results Each dB decrease in the initial average hearing threshold in-creased the expected hazard by 7.03％(P=0.02).Incomplete partition type Ⅱ(IP-Ⅱ)was associated with 5.11 hazard ratio(95％CI,1.81 to 14.45,P=0.002).Genotype C was associated with 6.13 hazard ratio for progressive hearing loss(95％CI,2.07 to 18.13,P=0.001).Conclusion The initial average hearing threshold,IP-Ⅱ,and SLC26A4 genotype C were significant effect factors of progressive hearing loss in patients with LVAS.This could predict the progression of hearing loss in children with LVAS and help identify patients at high risk for progressive hearing loss.

Objective:To explore the sequential chemotherapy efficacy of different chemotherapeutic regimens in ovarian epithelial carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma.Methods:A retrospective analysis was conducted on clinical and pathological data of 100 patients with platinum-sensitive ovarian epithelial carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma treated at Peking University Peopel′s Hospital from January 1992 to January 2019. All patients underwent staging surgery or cytoreductive surgery followed by adjuvant chemotherapy. Based on different postoperative adjuvant chemotherapy regimens, patients were divided into the sequential chemotherapy group (70 cases) and the conventional chemotherapy group (30 cases). Clinical and pathological characteristics, chemotherapy efficacy, adverse reactions, and prognosis were compared between the two groups.Results:(1) Clinical and pathological characteristics: the age, tumor types (including ovarian epithelial carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma), pathological types, International Federation of Gynecology and Obstetrics (FIGO) stage, postoperative residual disease size, presence of neoadjuvant chemotherapy, and total number of chemotherapy cycles were compared between the sequential chemotherapy group and the conventional chemotherapy group. There were no statistically significant differences observed in these characteristics between the two groups (all P>0.05). (2) Chemotherapy efficacy: the median sum of complete response (CR)+partial response (PR) duration in the sequential chemotherapy group was 80.0 months (range: 39 to 369 months), whereas in the conventional chemotherapy group, it was 28.0 months (range: 13 to 52 months). A statistically significant difference was observed between the two groups ( Z=-7.82, P<0.001). (3) Chemotherapy adverse reactions: in the sequential chemotherapy group, 55 cases (79%, 55/70) experienced bone marrow suppression and 20 cases (29%, 20/70) had neurological symptoms. In the conventional chemotherapy group, these adverse reactions occurred in 11 cases (37%, 11/30) and 2 cases (7%, 2/30), respectively. Statistically significant differences were observed between the two groups for both bone marrow suppression and neurological symptoms (all P<0.05). For the other chemotherapy adverse reactions compared between the two groups, no statistically significant differences were observed (all P>0.05). (4) Prognosis: during the follow-up period, the recurrence rate in the sequential chemotherapy group was 73% (51/70) and in the conventional chemotherapy group was 100% (30/30). The median sum of recurrence-free interval was 70.5 months (range: 19 to 330 months) in the sequential chemotherapy group and 15.0 months (range: 6 to 40 months) in the conventional chemotherapy group. Statistically significant differences were observed between the two groups for both recurrence rate and median recurrence-free interval (all P<0.01).In the sequential chemotherapy group, the median progression-free survival (PFS) time was 84.0 months (range: 34 to 373 months), and the median overall survival (OS) time was 87.0 months (range: 45 to 377 months). In contrast, in the conventional chemotherapy group, the median PFS time was 30.5 months (range: 14 to 60 months), and the median OS time was 37.5 months (range: 18 to 67 months). Statistically significant differences were observed between the two groups for both PFS and OS (all P<0.001). In the sequential chemotherapy group, the 3-year, 5-year, and 10-year OS rates were 100% (70/70), 93% (65/70), and 21% (15/70), respectively. In contrast, in the conventional chemotherapy group, the OS rates were 50% (15/30) at 3 years, 3% (1/30) at 5 years, and 0 at 10 years, respectively. The two groups were compared respectively, and the differences were statistically significant (all P<0.05). Conclusions:Sequential chemotherapy significantly prolongs PFS and OS in patients with ovarian epithelial carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma. The efficacy is superior to that of the conventional chemotherapy, with manageable adverse reactions. The use of sequential chemotherapy as first-line treatment for patients with ovarian epithelial carcinoma, fallopian tube carcinoma, and primary peritoneal carcinoma is recommended.

Objective:To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in GJB2 gene, and to provide basis for genetic counseling. Methods:Fifty-three subjects with p. V37I homozygote and compound heterozygote mutation were recruited at Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital from January 2023 to March 2024. All subjects received universal newborn hearing screening（UNHS）, 23-site chip neonatal deafness genetic screening and audiological tests, including ABR, acoustic immittance, DPOAE, ASSR. The results of newborn hearing screening and hearing diagnosis were compared between homozygous mutation group of 30 cases and compound heterozygous mutation group of 23 cases. Results:In 53 cases, the overall refer rate of UNHS was 64.15%（34/53）, the refer rate of homozygous mutation group was 80.00%（24/30）, which was higher than that of compound heterozygous mutation group（43.48%, 10/23）, the difference between the two groups was statistically significant（P<0.05）. Three subjects with p. V37I compound heterozygous mutation had passed UNHS and diagnosed with unilateral mild hearing loss. The average age of diagnosis of 53 cases was （3.77±1.40） months, 25 cases with hearing loss accounted for 47.17%, including 13 cases with unilateral, 12 cases with bilateral, 28 cases with normal hearing accounted for 52.83%. There was no significant difference between homozygous mutation group（56.67%, 17/30） and compound heterozygous mutation group（34.78%, 8/23） in the proportion of confirmed hearing loss（P>0.05）. Among 37 ears of 25 patients with hearing loss, the proportion of mild, moderate and profound hearing loss were 70.27%（26/37）, 27.03%（10/37） and 2.70%（1/37）, respectively. The hearing loss degree of the homozygous mutation group and the compound heterozygous mutation group were mainly mild, accounting for 70.37%（19/27） and 70.00%（7/10） respectively. There was no significant difference between the two groups in the distribution of hearing loss degree（P>0.05）. Conclusion:The probability of hearing loss was 47.17% in infants of GJB2 gene p. V37I homozygote and compound heterozygote mutation, mainly mild hearing loss. There was no difference in the probability of hearing loss and the distribution of hearing loss degree between the two groups. Patients with p. V37I homozygous and compound heterozygous mutation currently diagnosed as normal hearing need continuous clinical follow-up.
Humans ; Connexin 26 ; Heterozygote ; Homozygote ; Female ; Phenotype ; Male ; Mutation ; Connexins/genetics* ; Infant ; Infant, Newborn ; Hearing Tests ; Neonatal Screening ; Deafness/genetics* ; Genetic Testing

Knee osteoarthritis (KOA) is a common chronic degenerative disease of cartilage, which often occurs in middle-aged and elderly patients. It can cause joint swelling, pain and limited movement. With the aging population gradually increasing in China, the prevalence of KOA is also increasing, imposing burdens on patients, families and society. At present, the clinical treatment methods for KOA mainly include physical exercise therapy, non-steroidal analgesic drug therapy, intra-articular hormone injection therapy and surgical treatment, which can improve symptoms and reduce pain but cannot effectively cure KOA. With the development of medicine, platelet-rich plasma (PRP) therapy, as a new treatment method, has the effects of nerve repair and pain relief, and has become a new choice for the treatment of KOA. This article reviews the application of PRP in KOA, so as to provide a new perspective for clinical treatment of knee osteoarthritis KOA.

Objective:To investigate the risk factors of acute biliopancreatic complica-tions in patients of pregnancy combined with gallbladder stone and construction of prediction model.Methods:The retrospective case-control study was constructed. The clinical data of 98 patients of pregnancy combined with gallbladder stone who were admitted to the First Hospital of Lanzhou University from September 2011 to October 2022 and 53 patients of pregnancy combined with gallbladder stone who were admitted to Gansu Provincial Hospital May 2014 to October 2021 were collected. The age of 151 patients was 29(25,32)years. Observation indicators: (1) situations of patients of pregnancy combined with gallbladder stone; (2) risk factors of acute biliopancreatic com-plications in patients of pregnancy combined with gallbladder stone; (3) construction of prediction model for acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the independent t test. Measurement data with skewed distribution were represented as M( Q1, Q3), and comparison between groups was conducted using the Mann-Whitney U test. Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test. Comparison of ordinal data was conducted using the rank sum test. Univariate and multi-variate analyses were conducted using the Logistic regression model. Nomogram prediction model was conducted, and the receiver operating characteristic (ROC) curve was used to evaluate discri-mination of the nomogram predic-tion model. The calibration curve and clinical decision curve were used to evaluate calibration and net clinical benefit of the nomogram prediction model. Internal validation of the prediction model was performed by applying 10-fold cross-validation. Results:(1) Situations of patients of pregnancy combined with gallbladder stone. The total cholesterol, triglyceride, high density lipoprotein cholesterol, low density lipoprotein cholesterol, prepregnancy body mass index (<18.5 kg/m 2, 18.5?24.0 kg/m 2, >24.0 kg/m 2), gesta-tional period (early, mid, late), primipara (positive, negative), stone type (solitary, non solitary), diameter of stone (≤10 mm, >10 mm), gallbladder wall thickness (≥4 mm, <4 mm) were (4.9±1.4)mmol/L, 1.88(1.22,2.93)mmol/L, 1.48(1.22,1.83)mmol/L, (2.8±0.9)mmol/L, 13, 75, 58, 37, 45, 69, 86, 65, 37, 114, 89, 62, 38, 113 in the 151 patients of pregnancy combined with gallbladder stone. Of the 151 patients, the age, prepregnancy body mass index (<18.5 kg/m 2, 18.5?24.0 kg/m 2, >24.0 kg/m 2), primipara (positive, negative), stone type (solitary, non solitary), diameter of stone (≤10 mm, >10 mm), gallbladder wall thickness (≥4 mm, <4 mm) were 31(28,37)years, 3, 30, 36, 29, 40, 32, 37, 26, 43, 4, 65 in 69 cases without symptom, versus 27(24,31)years, 10, 45, 22, 57, 25, 5, 77, 63, 19, 34, 48 in 82 cases combined with acute biliopancreatic complications, showing significant differences in the above indicators between them ( Z=?3.636, ?2.385, χ2=11.544, 32.862, 23.729, 25.310, P<0.05). Five of the 82 patients of pregnancy combined with gallbladder stone missed data of prepregnancy body mass index. Of the 82 patients, there were 42 patients of simple acute cholecystitis, 40 patients of common bile duct stone and/or acute biliary pancreatitis including 18 cases of common bile duct stone, 13 cases of acute biliary pancreatitis and 9 cases of common bile duct stone combined with acute biliary pancreatitis. (2) Risk factors of acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone. Results of multivariate analysis showed that primipara, non solitary stone, diameter of stone ≤10 mm, gallbladder wall thickness ≥4 mm were independent risk factors of acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone ( odds ratio=3.102, 6.305, 3.674, 6.686, 95% confidence interval as 1.280?7.519, 1.886?21.080, 1.457?9.265, 1.984?22.528, P<0.05). Results of multivariate analysis in further analysis showed that primipara, non solitary stone, gallbladder wall thickness ≥4 mm were independent risk factors of simple acute cholecystitis in patients of pregnancy combined with gallbladder stone ( odds ratio=3.671, 8.905, 7.137, 95% confidence interval as 1.386?9.723, 2.332?34.006, 1.902?26.773, P<0.05), and age, non solitary stone, diameter of stone ≤10 mm, gallbladder wall thickness ≥4 mm were independent risk factors of common bile duct stone and/or acute biliary pancreatitis in patients of pregnancy combined with gallbladder stone ( odds ratio=0.883, 5.361, 5.472, 8.895, 95% confidence interval as 0.789?0.988, 1.062?27.071, 1.590?18.827, 2.064?38.325, P<0.05). (3) Construction of prediction model for acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone. The nomogram prediction model for acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone was constructed based on the clinical factors of age, primipara, stone type, diameter of stone and gallbladder wall thickness. The area under the curve (AUC) of ROC curve of prediction model was 0.869 (95% confidence interval as 0.813?0.923), indicating that the prediction model with good predictive ability. Results of Hosmer-Lemeshow test showed a good fit ( χ2=5.680, P>0.05), indicating that the prediction model with good calibration. Results of decision curve analysis showed the prediction model with high net clinical benefit. Results of internal validation of the prediction model based on 10-fold cross-validation showed the AUC of ROC curve for the cross-validation sample was 0.833, indicating that the prediction model with good stability. Conclusions:Primigravida, non solitary stone, diameter of stone ≤10 mm, gallbladder wall thickness ≥4 mm are independent risk factors of acute biliopancreatic complications in patients of pregnancy combined with gallbladder stone. The prediction model for acute biliopancreatic complications has good predictive ability.

With the construction and development of head and neck tumor, diagnosis and treatment technology and survival rate of patients have been improved in different degrees. Nurses play an important role as managers and practitioners in the treatment and rehabilitation of patients with head and neck tumors, and it is very important to evaluate and manage the treatment and prognosis of head and neck tumor patients scientifically. In this context, the American Cancer Society launched the Head and Neck Cancer Survivorship Care Guideline in 2017 and was endorsed by the American Society for Clinical Oncology. This paper mainly discusses the forming process of the guidelines, the main points of the consensus of experts, the guiding role of the guidelines in clinical work and the obstacles and limitations of the guidelines.