Objective:To determine the prevalence of GJB2 gene c. 109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. Methods:One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c. 109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c. 109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children′s Hospital of Ningbo University (Ethics No.: EC2023-009). Results:For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c. 109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c. 109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined ( n=53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined ( n=24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls ( P=0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1±12.0 dB nHL, P=0.005). Conclusion:Infants harboring the GJB2 c. 109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c. 109G>A variant can confer a more severe hearing loss.

Objective To investigate the immediate therapeutic efficacy of Kuanxiong Aerosol on improving the angina pectoris in the patients complicated with intermediate coronary stenosis(ICS),and to observe its effect on resting full-cycle ratio(RFR),corrected TIMI(thrombolysis in myocardial infarction)frame count(CTFC)in angiography,and coronary serum inflammatory factors.Methods Sixty angina pectoris patients with ICS admitted to the Cardiovascular Department of Dade Road Hospital,Guangdong Provincial Hospital of Traditional Chinese Medicine from March 2023 to March 2024 were randomly divided into the trial group and the control group,with 30 patients in each group.The trial group was given four consecutive sprays of Kuanxiong Aerosol by sublingual spray,and the control group had no intervention but just was given the monitoring for 10 minutes.Before and after the intervention,the changes of coronary RFR,CTFC,Visual Analogue Scale(VAS)score of chest pain,and the serum levels of C-reactive protein(CRP),interleukin 6(IL-6)and lipoprotein-associated phospholipase A2(Lp-PLA2)in the two groups were observed.Moreover,the incidence of adverse reactions during the intervention in the two groups of patients was compared.Results(1)After the intervention,the coronary RFR value of the trial group was increased significantly compared with that before intervention(P<0.01),while the coronary RFR value of the control group was not increased significantly compared with that before intervention(P>0.05);the comparison between the two groups showed that the effect on increasing the coronary RFR value in the trial group was superior to that in the control group(P<0.05).(2)After intervention,the CTFC value of the trial group was significantly decreased compared with that before intervention(P<0.01),while the CTFC value of the control group was not significantly decreased compared with that before intervention(P>0.05);the intergroup comparison showed that the trial group tended to have a better effect on the decrease of CTFC value than the control group,but the difference being not statistically significant(P>0.05).(3)After the intervention,the chest pain VAS score of the trial group was significantly reduced compared with that before intervention(P<0.01),while the pre-and post-treatment changes of the score in the control group was not significant(P>0.05);the intergroup comparison showed that the decrease of the chest pain VAS score in the trial group was superior to that in the control group(P<0.01).In particular for immediate therapeutic efficacy,Kuanxiong Aerosol achieved the effective rate of 96.67%(29/30)for relieving chest pain 10 minutes after sublingual spraying,which was significantly superior to that of the control group[10.00%(3/30)],and the comparison between the two groups showed that the difference was statistically significant(P<0.001).(4)After the intervention,the Lp-LPA2 value of the trial group was decreased compared with that before intervention(P<0.05),while the CRP and IL-6 values of the trial group as well as the CRP,IL-6,and Lp-LPA2 values of the control group were all not significantly decreased compared with those before intervention(P>0.05).The intergroup comparison showed that the trial group's effect on the decrease of Lp-LPA2 value was significantly superior to that of the control group(P<0.05).(5)Before and after the intervention,no obvious changes of the general vital signs in the two groups were shown,no drug-related adverse occurred,either.Conclusion Kuanxiong Aerosol can immediately improve the coronary physiological function indicators of angina pectoris patients with ICS,increase the coronary flow rate,and inhibit inflammatory response of the coronary artery to some degree,thus to alleviate the symptoms of angina pectoris in patients with ICS.

OBJECTIVE: To determine the prevalence of GJB2 gene c.109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. METHODS: One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c.109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c.109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children's Hospital of Ningbo University (Ethics No.: EC2023-009). RESULTS: For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c.109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c.109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined (n = 53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined (n = 24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls (P = 0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1 ± 12.0 dB nHL, P = 0.005). CONCLUSION Infants harboring the GJB2 c.109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c.109G>A variant can confer a more severe hearing loss.
Humans ; Connexin 26/genetics* ; Female ; Male ; Infant, Newborn ; Infant ; Hearing Loss/genetics* ; Retrospective Studies ; Child, Preschool ; Child ; Genotype ; Connexins/genetics* ; Mutation

Purpose To explore the predictive value of intravoxel incoherent motion quantitative parameters and pathological grading for the survival prognosis of patients with hepatocellular carcinoma(HCC)after surgery.Materials and Methods A retrospective analysis was performed on 65 patients with HCC who had complete imaging data and underwent radical surgery at the Fourth Hospital of Hebei Medical University from October 2018 to November 2019.All patients were followed up for a 5-year survival period.The receiver operating characteristic curve was used to determine the optimal cut-off values for intravoxel incoherent motion quantitative parameters,including standard apparent diffusion coefficient(sADC),diffusion coefficient(D),pseudo-diffusion coefficient(D*)and perfusion fraction(F).Univariate and multivariate Cox regression analyses were performed to select independent predictive factors affecting the overall survival time of HCC patients after surgery.Results Univariate Cox regression analysis showed that pathological grading(HR=1.588,95%CI 0.936-2.692,P=0.086),microscopic vascular invasion(HR=2.512,95%CI 1.308-4.823,P=0.006),neutrophil-to-lymphocyte ratio(HR=1.752,95%CI 1.000-3.068,P=0.050),sADC(HR=0.433,95%CI 0.235-0.796,P=0.007),D(HR=0.262,95%CI 0.121-0.565,P<0.001)and F(HR=2.268,95%CI 1.259-4.087,P=0.006)were all prognostic factors.Multivariate Cox regression analysis showed that pathological grade(grade Ⅲ and Ⅳ)was the independent risk factor for the survival prognosis of patients after HCC surgery(HR=1.748,95%CI 1.003-3.045,P=0.049);the D value>0.916×10-3 mm2/s was the independent protective factor for their survival prognosis(HR=0.249,95%CI 0.113-0.550,P<0.001).Conclusion The pathological grade(Ⅲ/Ⅳ)as an independent risk factor and higher D values as a protective factor are the independent predictors of survival and prognosis of patients with HCC after surgery,and the combination of the two can provide a reference for clinical prognosis assessment.

Objective:To determine the prevalence of GJB2 gene c. 109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. Methods:One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c. 109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c. 109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children′s Hospital of Ningbo University (Ethics No.: EC2023-009). Results:For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c. 109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c. 109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined ( n=53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined ( n=24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls ( P=0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1±12.0 dB nHL, P=0.005). Conclusion:Infants harboring the GJB2 c. 109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c. 109G>A variant can confer a more severe hearing loss.

Purpose To explore the predictive value of intravoxel incoherent motion quantitative parameters and pathological grading for the survival prognosis of patients with hepatocellular carcinoma(HCC)after surgery.Materials and Methods A retrospective analysis was performed on 65 patients with HCC who had complete imaging data and underwent radical surgery at the Fourth Hospital of Hebei Medical University from October 2018 to November 2019.All patients were followed up for a 5-year survival period.The receiver operating characteristic curve was used to determine the optimal cut-off values for intravoxel incoherent motion quantitative parameters,including standard apparent diffusion coefficient(sADC),diffusion coefficient(D),pseudo-diffusion coefficient(D*)and perfusion fraction(F).Univariate and multivariate Cox regression analyses were performed to select independent predictive factors affecting the overall survival time of HCC patients after surgery.Results Univariate Cox regression analysis showed that pathological grading(HR=1.588,95%CI 0.936-2.692,P=0.086),microscopic vascular invasion(HR=2.512,95%CI 1.308-4.823,P=0.006),neutrophil-to-lymphocyte ratio(HR=1.752,95%CI 1.000-3.068,P=0.050),sADC(HR=0.433,95%CI 0.235-0.796,P=0.007),D(HR=0.262,95%CI 0.121-0.565,P<0.001)and F(HR=2.268,95%CI 1.259-4.087,P=0.006)were all prognostic factors.Multivariate Cox regression analysis showed that pathological grade(grade Ⅲ and Ⅳ)was the independent risk factor for the survival prognosis of patients after HCC surgery(HR=1.748,95%CI 1.003-3.045,P=0.049);the D value>0.916×10-3 mm2/s was the independent protective factor for their survival prognosis(HR=0.249,95%CI 0.113-0.550,P<0.001).Conclusion The pathological grade(Ⅲ/Ⅳ)as an independent risk factor and higher D values as a protective factor are the independent predictors of survival and prognosis of patients with HCC after surgery,and the combination of the two can provide a reference for clinical prognosis assessment.

Objective To analyze the clinical and MR characteristics of fibroadenoma(FA)and phyllodes tumor(PT)with maxi-mum diameter≥5 cm.Methods A total of 33 cases with FA and 34 cases with PT were selected,and all lesions with maximum diameter≥5 cm were confirmed by surgical pathology.The clinical and MR characteristics were analyzed retrospectively.Results PT and FA with tumor maximum diameter≥5 cm were more common in perimenopausal women[(47.35±11.36)years old vs(49.42±11.73)years old,P>0.05],while the FA patient was with the wider age range(19-79 years old).There was statistically significant difference in tumor maximum diameter between PT group and FA group(P<0.001),and tumor maximum diameter of PT group(median 7.06 cm,tumor maximum diameter 17.3 cm)was significantly larger than that of FA group.Coarse calcification was more common in the FA group compared to the PT group(5 vs 0,P=0.011).High signal on T1WI was more common in PT group rela-tive to FA group(50%vs 9.1%,P<0.001).There were no significant differences between the two groups in four characteristics,including tumor margin lobulation(97.1%vs 81.8%),T2WI low signal separation(32.4%vs 30.3%),fibroglandular tissue(FGT),and background parenchymal enhancement(BPE)(P>0.05).Time-signal intensity curve(TIC)of FA group showed typeⅠ and Ⅱ curves,while 4 cases(11.8%)in PT group showed type Ⅲ curves,and there was statistically significant difference in TIC between the two groups(P=0.008).The apparent diffusion coefficient(ADC)values of PT group[(1.48±0.17)×10-3mm2/s]was slightly lower than that of FA group[(1.55±0.20)×10-3 mm2/s],and there was no significant difference in ADC between the two groups(P>0.05).The receiver operating characteristic(ROC)curve showed that the best diagnostic cut-off value for distinguishing between PT and FA with maximum diameter≥5 cm was 6.36 cm,the area under the curve(AUC)was 0.927[95%confidence in-terval(CI)0.860-0.994;P<0.001].The AUC of the T1 WI high signal was 0.705,and the standard error was 0.065(95%CI 0.578-0.831;P=0.004).Conclusion Among FA and PT with tumor maximum diameter≥5 cm,PT appear to be more larger lesion and prone to higher signal intensity on T1WI compared to FA,while coarse calcification is more common in FA.

Objective To evaluate the CT features and differential value of gastric leiomyomas(GLs)and gastric stromal tumors(GSTs)after propensity score matching.Methods Twenty-six GLs were 1∶1 propensity score matched to GSTs based on sex,age,tumor site and size.Tumor shape and contour,mucosal ulcer,tumor growth patterns,enhancement pattern and degree,the lon-gest diameter(LD)of the tumor,and the ratio of the LD to the vertical diameter(VD)were analyzed.CT signs included hemor-rhage,calcification,peripheral invasion,and distant metastasis,etc.Regression analysis was used to determine the best quantitative evaluation for differentiation of them.Results The presence of mucosal ulcer was significantly more frequent in GSTs than in GLs(P=0.032).Both tumors showed progressive enhancement;however,the enhancement degree of GSTs was significantly higher than GLs in the arterial and portal venous phases(P=0.004,P=0.002,respectively).The above influential factors were included in a regression analysis using enhancement degree of 18 HU and 23 HU in the arterial and portal venous phases as cutoff values respectively.An enhancement degree≤18 HU in the arterial phase was identified as an independent influential factor in the diagnosis of GLs[odds ratio(OR)=12.776,95％confidence interval(CI)1.270-128.535].No significant difference was found in other morphological characteristics(P＞0.05).Conclusion Less ulceration on the tumor surface and mild enhancement in arterial phase are characteristic features of GLs compared with GSTs.

Objective To evaluate the application value of golden angle radial sparse parallel(Grasp)sequence in contrast-enhanced MRI of liver.Methods The imaging data of 30 patients who underwent gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid contrast-enhanced MRI of liver were collected.With the same equipment,images were collected by Grasp sequence and breath-hold sequence separately,with an interval of less than 3 months.The subjective and objective scores of the late arterial phase and portal venous phase images were evaluated.Results There were no significant differences in all subjective scores of the late arterial phase and portal venous phase images between the two sequences(P＞0.05).The signal-to-noise ratio(SNR)of the late arterial phase images in the Grasp sequence was lower than that in the breath-hold sequence(148.4±52.8 vs 195.6±68.4),and the difference was statistically significant(P＜0.01).Although the SNR of the portal venous phase in the Grasp sequence was lower than that in the breath-hold sequence,the difference was not statistically significant(P＞0.05).There was no statistical difference in the other objective scores between the two sequences(P＞0.05).Conclusion The image quality of Grasp sequence in contrast-enhanced MRI of liver can meet the diagnositic requirements,and it is suitable for patients with poor breath-hold capacity,which has important application value.

Objective To study the feasibility of DCE-MRI application in the orthotopic transplantation model of gastric cancer in nude mice.Methods Orthotopic transplantation model of gastric cancer in nude mice was established, and 15 models underwent DCE-MRI using the contrast agent of gadopentetate.Subsequently, the tumor was dissected in order to detect the MVD.The MVD was compared between orthotopic transplantation tumor model of gastric cancer and normal gastric mucosa.Results Fifteen nude mice with orthotopic transplantation of gastric cancer successfully underwent DCE-MRI examination.As for the cancer, the values of Ktrans, Kep and Ve were (2.11±0.44) min-1, (4.59±0.93) min-1, and 0.46±0.06, respectively.The MVD in gastric cancer tissues was significantly higher than that in normal gastric mucosa (χ2=16.205, P<0.001).Conclusion DCE-MRI can be used for noninvasively quantitative evaluation of vascular parameters of gastric carcinoma.