1.Repeatability of corneal astigmatism measured by IOL Master 700 in cataract patients
Bo YAO ; Yihui WANG ; Zhikun XIN
International Eye Science 2026;26(10):1806-1817
AIM: To investigate the repeatability of using IOL Master 700 to stratify corneal astigmatism and related biological parameters in cataract patients with different degrees of astigmatism, and evaluate its consistency with IOL Master 500.
METHODS: A cross-sectional study was conducted on preoperative cataract patientsadmitted to the hospital from February 2024 to September 2025. The patients were divided into three groups: low astigmatism group(astigmatism<0.75 D), moderate astigmatism group(0.75 D≤astigmatism≤1.50 D), and high astigmatism group(astigmatism>1.50 D). The IOL Master 700 and IOL Master 500 biometers were used by the same examiner respectively. Under the same environment, head position, and operating standards, each eye was continuously measured twice(with an interval of 3-5 min)with each instrument. Axial length(AL), anterior chamber depth(ACD), lens thickness(LT), corneal transverse diameter(WTW), flat curvature(Kf), steep curvature(Ks), mean curvature(Km), anterior corneal astigmatism(Kly), total corneal astigmatism(TK), iris-based diameter-vertical component(IBD-Ix), iris-based diameter-horizontal component(IBD-Iy)and astigmatism vectors J0 and J45 were recorded. Intraclass correlation coefficient(ICC)was used to evaluate the repeatability of IOL Master 700 measurements. Bland-Altman 95% limits of agreement(LoA)was used to evaluate the consistency of IOL Master 700 and IOL Master 500 measurements. Correlation scatter plots were used to evaluate the correlation between IOL Master 700 and IOL Master 500 measurements.
RESULTS:Totally 238 preoperative cataract patients(238 eyes)were selected as the research subjects and divided into a low astigmatism group of 88 cases, including 47 males and 41 females, with an average age of 68.14±6.25 y. The moderate astigmatism group consisted of 80 eyes, with 42 males and 38 females, with an average age of 68.13±6.98 y. The high astigmatism group consisted of 70 eyes, with 38 males and 32 females, with an average age of 69.11±6.79 y. The general information of the three groups of patients was comparable. In the low, medium, and high astigmatism groups, the ICC measured by IOL Master 700 for AL, ACD, LT, WTW, Kf, Ks, Km, Kly, TK, and IBD-Ix were all>0.90, and the ICC for IBD-Iy was>0.85. The ICC comparison of J0 and J45 patients with different degrees of astigmatism showed that the low astigmatism group was less than the moderate astigmatism group and less than the high astigmatism group. Bland Altman analysis between two devices showed that the 95% LoA width of AL, ACD, LT, WTW, Kf, Ks, Km, Kly, TK, and IBD-Ix was narrow, indicating good consistency between the two instruments. For the astigmatism vectors J0 and J45, the Bland Altman 95% LoA width between the two devices decreased with increasing astigmatism. A correlation scatter plot was drawn, which showed that the scatter points of AL, ACD, LT, WTW, Kf, Ks, Km, Kly, TK, IBD-Ix, and IBD-Iy were closely clustered on both sides of the diagonal without obvious outliers, indicating high correlation. J0 and J45 scatter points were still distributed along the diagonal, but the degree of dispersion was significantly greater than the above parameters, indicating slightly lower correlation.
CONCLUSION:IOL Master 700 exhibits goodtoexcellent repeatability in measuring parameters such as AL, ACD, LT, WTW, corneal curvature, Kly, TK, IBD-Ix,and IBD-Iy in cataract patients with different degrees of astigmatism, and shows good agreement with the IOL Master 500. However, for the astigmatism vectors J0 and J45, the repeatability of IOL Master 700 and its consistency with IOL Master 500 both decrease with decreasing astigmatism, and the difference is particularly significant in patients with low astigmatism. Therefore, astigmatism vector outcomes obtained from a single measurement should be interpreted with caution in patients with low astigmatism.
2.Evaluation of the clinical efficacy of percutaneous balloon compression in patients with trigeminal neuralgia based on a difference-in-differences model
Yihui DU ; Zenghui XI ; Yinzhan WANG ; Wenchang GUO ; Zhenghao ZHANG ; Tao QIAN
International Journal of Surgery 2025;52(4):266-274
Objective:To explore the clinical efficacy of percutaneous balloon compression (PBC) in the treatment of trigeminal neuralgia (TN) based on the double difference (DID) model.Methods:A retrospective case - control study method was adopted to analyze the general data of 130 patients with trigeminal neuralgia (TN) who were treated in the Department of Neurosurgery of Hebei General Hospital from January 2022 to October 2023. Among them, 49 were males and 81 were females. The age was (53.28±11.67) years, ranging from 25 to 80 years old. According to different treatment methods, the patients were divided into an experimental group ( n=63) and a control group ( n=67). Patients in the experimental group were given percutaneous balloon compression (PBC) treatment, while those in the control group were treated with conservative drug therapy. Propensity score matching method was used for 1∶1 matching. After matching, there were 52 cases in each group. The general data of the two groups were compared. The visual analogue scale (VAS), 36-item short form health survey (SF-36) score, Hamilton depression rating scale (HAMD) score, Hamilton anxiety rating scale (HAMA) score, 5-hydroxytryptamine, neuropeptide P, inflammatory factor interleukin-1 (IL-1), tumor necrosis factor-α (TNF-α) before and after treatment, as well as the clinical efficacy of the two groups of patients were comparatively analyzed. Meanwhile, the incidence of postoperative complications in the two groups was compared. The generalized estimating equation (GEE) model was used to analyze the influencing factors of clinical efficacy, and the difference-in-differences (DID) model was used to evaluate the efficacy before and after treatment. Measurement data conforming to the normal distribution were expressed as mean±standard deviation ( ± s), and the t-test was used for comparison between groups; the chi- square test was used for comparison between count data. Results:After treatment, the VAS, SF-36 score, HAMD score, HAMA score, 5-hydroxytryptamine level, neuropeptide P level, IL-1 level, and TNF-α level in the experimental group were (2.98±0.83) points, (75.56±1.18) points, (7.2±0.83) points, (7.15±0.85) points, (76.34±5.47) ng/mL, (50.95±11.01) pg/mL, (29.45±7.08) ng/L, and (21.18±3.55) ng/L respectively. In the control group, there were (3.63±0.95) points, (73.23±1.13) points, (7.98±0.80) points, (8.04±0.84) points, (186.31±11.61) ng/mL, (86.52±13.32) pg/mL, (34.47±6.58) ng/L, and (26.36±5.80) ng/L, respectively. The differences between the two groups were statistically significant ( P<0.05).The cure rate and the total incidence of postoperative complications in the experimental group were 55.77% and 13.46% respectively, while in the control group, they were 40.38% and 30.77% respectively. The differences between the two groups were statistically significant ( P<0.05).The results of the GEE model analysis showed that age, course of disease, VAS, SF-36 score, HAMA score, HAMD score, 5-hydroxytryptamine level, neuropeptide P level, IL-1 level, TNF-α level, treatment method, and the long - diameter ratio of FO significantly affected the clinical efficacy of patients ( P<0.05).The results of the DID model showed that the experimental group was superior to the control group in improving the VAS, SF-36 score, HAMD score, HAMA score, 5-hydroxytryptamine level, neuropeptide P level, IL-1 level, and TNF-α level( P<0.05). Conclusion:PBC can significantly improve the VAS, SF-36 score, HAMD score, HAMA score, 5-hydroxytryptamine, neuropeptide P, IL-1, TNF-α, and incidence of complications in patients with TN. It can also improve the psychological status and quality of life of patients.
3.Mechanism of Jiedu Xiaoying Patch intervening rats with Hashimoto's thyroiditis
Fei XU ; Fengjun QI ; Huimin LI ; Dan LI ; Xinyue WU ; Xiaojing ZHANG ; Lisha WANG ; Yihui SONG ; Xin XING
International Journal of Traditional Chinese Medicine 2025;47(7):927-931
Objective:To investigate the effect and mechanism of Jiedu Xiaoying Patch in rats with Hashimoto's thyroiditis (HT).Methods:Totally 32 rats were randomly divided into a blank group of 8 rats and a model group of 24 rats. The HT rat model was prepared by freely drinking 0.064% sodium iodide solution in the modeling module. 24 successfully modeled rats were randomly divided into model group, selenium yeast group, and patch group, with 8 rats in each group. Starting from the 9th week, the application group applied Jiedu Xiaoying Patch to the surface projection area of the thyroid gland in the neck of rats for 6 hours, once a day, for a total of 6 weeks; the selenium yeast group was orally administered with 21 μg/ml selenium yeast solution at a dose of 0.5 ml/100 g, while the blank group, model group, and patch group were orally administered with equal volumes of physiological saline solution once a day for a total of 6 weeks. The levels of TGAb,TPOAb, Sema 5A, and IL-17A in rat serum were detected by ELISA. The changes of thyroid tissue was observed with HE staining. The relative expression levels of plexin-A1 and plexin-B3 were determined through RT-PCR.Results:Compared with the model group, the levels of TPOAb, TGAb, Sema 5A, and IL-17A decreased ( P<0.05), and the expressions of plexin-A1 and plexin-B3 decreased in the selenium yeast group and the patch group ( P<0.05). The thyroid follicles in the model group were severely damaged, with a large number of lymphocytes infiltrating the interstices; the thyroid follicular structure of the selenium yeast group was relatively intact, and lymphocyte infiltration was reduced compared to the model group. The thyroid follicular structure of the patch group was basically intact, with a small amount of lymphocyte infiltration observed. Conclusion:Jiedu Xiaoying Patch can significantly reduce the levels of TPOAb and TGAb in HT rats. The mechanism may be related to reducing the content of Sema 5A, inhibiting the expressions of receptors plexin-A1 and plexin-B3, reducing the production of inflammatory cytokines such as IL-17A, and inhibiting immune and inflammatory responses.
4.Audiological characterization of the GJB2 gene c.109G>A (p.V37I) hotspot variant during childhood and comparison between family members.
Zhoushu ZHENG ; Jiangyang XUE ; Lu DING ; Jiewen PAN ; Meihong WANG ; Yinghui ZHANG ; Danyan ZHUANG ; Yihui YANG ; Ming TANG ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(9):1061-1068
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
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Connexin 26/genetics*
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Female
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Male
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Infant, Newborn
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Infant
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Hearing Loss/genetics*
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Retrospective Studies
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Child, Preschool
;
Child
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Genotype
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Connexins/genetics*
;
Mutation
5.Comparison of clinicopathological and MRI imaging features between ductal carcinoma in situ with microinfiltration and ductal carcinoma in situ of the breast
Hong'en LI ; Li ZHANG ; Xia WANG ; Xing LIN ; Wei WANG ; Yihui ZENG
Chinese Journal of Oncology 2025;47(8):726-733
Objective:To investigate the differences in the clinicopathological and magnetic resonance imaging (MRI) imaging features between ductal carcinoma in situ (DCIS) and ductal carcinoma in situ with microinfiltration (DCIS-MI) of the breast, and to clarify the risk factors for the development of DCIS-MI.Methods:Forty-four patients diagnosed with DCIS and 21 patients diagnosed with DCIS-MI by postoperative pathology at Guangdong Maternal and Child Health Hospital from November 2017 to November 2022 were included, and the clinicopathological and preoperative breast MRI data of these patients were retrospectively collected. The patients' MRI images were categorized and diagnosed with reference to the Breast Imaging Reporting and Data System (BI-RADS) criteria. The χ2 test or Fisher exact probability method was used to compare the differences in the clinicopathological and MRI imaging characteristics between the two groups of patients, and generalized linear model analysis was used to clarify the influencing factors of DCIS-MI.Results:The differences in the histologic grading, estrogen receptor (ER) expression, progesterone receptor (PR) expression, human epidermal growth factor receptor 2 (HER-2) expression, Ki-67, and molecular typing between patients in the DCIS and DCIS-MI groups were statistically significant (all P<0.05). The results of generalized linear model analysis showed that Ki-67 expression and specific molecular typing (Luminal B and triple-negative types) were significantly associated with the risk of developing DCIS-MI ( P<0.05). Breast fibroglandular tissue density, lesion type, background parenchymal enhancement, type of time-intensity curves (TICs), distribution of non-mass enhancement, non-mass enhancement internal enhancement characteristics, mass morphology, mass boundary, mass enhancement mode, and other MRI imaging features were not statistically significant (all P>0.05).The MRI diagnostic accuracy of the DCIS group and the DCIS-MI group was 77.3% (34/44) and 95.2% (20/21), respectively, and the difference in the MRI BI-RADS classification of the patients in the two groups was not statistically significant ( P=0.227). Conclusions:There was no significant difference in the breast MRI imaging characteristics between patients in the DCIS and DCIS-MI groups. Patients in the DCIS-MI group were more likely to present with high histologic grades, negative ER, negative PR, positive HER-2, high Ki-67 expression, HER-2 overexpression, and triple-negative phenotypes. The association between Ki-67 expression and specific molecular typing (Luminal B and triple-negative phenotypes) and the risk of developing DCIS-MI risk were correlated.
6.Correlation between clinical features and expression of HPV,HIF and VEGF in adult pharyngeal and laryngeal papilloma
Yihui GUO ; Lijing MA ; Yang XIAO ; Jun WANG
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(1):42-47
OBJECTIVE To investigate the relationship between clinical features and human papillomavirus(HPV)infection and the expression of hypoxia-inducible factor(HIF)and vascular endothelial growth factor(VEGF)in patients with pharyngeal and laryngeal papilloma.METHODS Adult patients with pharyngeal and laryngeal papilloma admitted to Beijing Tongren Hospital Affiliated to Capital Medical University from October 2022 to February 2024 were selected as the test group,and adult patients with non-inflammatory non-tumor throat lesions were selected as the control group.Clinical data and pathological tissue samples were collected.The differences of pharyngeal and laryngeal papilloma patients in symptoms,age,gender,smoking,drinking,the number of lesion involved sites and the number of operations were compared.Real-time fluorescence quantitative PCR was used to detect the expression of HPV DNA,HIF cDNA and VEGF cDNA in the pathological tissues.RESULTS The symptoms of pharyngeal papilloma are less severe than those of laryngeal papilloma.There were no statistically significant differences between the two groups in terms of gender and alcohol consumption(P>0.05),but there were statistically significant differences in terms of age,smoking,the number of lesions involved and the number of operations(P<0.05).The number of lesion involved sites was positively correlated with the expression of HIF and VEGF(r=0.3553、r=0.2693,P<0.05).The number of operations was positively correlated with the expression of VEGF(r=0.2515,P<0.05).The expression levels of HIF and VEGF in laryngeal papilloma were higher than those in pharyngeal papilloma and control group(F=9.174,H=23.737,P<0.001).The expression levels of HIF and VEGF in HPV-positive tissue were higher than those in HPV-negative tissue(t=3.899,t=6.463,P<0.001).The HPV positive rate of laryngeal papilloma(97.9%,46/47)was higher than that in pharyngeal papilloma(21.7%,10/46)and control group(13.6%,3/22)(χ2=53.114、χ2=46.647,P<0.001).CONCLUSION HPV infection is one of the important causes of pharyngeal papilloma.The low infection status of pharyngeal papilloma may lead to low expression of HIF and VEGF in the tumor,which makes its clinical features different from laryngeal papilloma.
7.Anesthetic management of immediate curative effect observation during arytenoid cartilage reduction under general anesthesia
Jun SHI ; Lijing MA ; Yang XIAO ; Chunhua XI ; Yihui GUO ; Jun WANG
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(3):175-178
OBJECTIVE To investigate the improved anesthesia method of arytenoid cartilage reduction under general anesthesia in the treatment of arytenoid dislocation.METHODS The clinical data of 12 patients who underwent modified arytenoid cartilage reduction under general anesthesia in Beijing Tongren Hospital from July 2020 to March 2024 were retrospectively analyzed.To evaluate and analyze the modified anesthesia method of maintaining low degree of neuromuscular block during operation,the recovery of arytenoid cartilage movement and sound after operation.RESULTS All the 12 patients successfully completed arytenoid cartilage reduction.The articulation,arytenoid movement and glottis closure were improved significantly.Compared with the total voice handicap index(VHI),physical scores,functional scores and emotional scores before reduction,the scores at 1 month after surgery were significantly lower[83.5(75-91)vs.13(7-19),30.5(26.5-33)vs.5.5(3-7),25.5(22.5-29)vs.4(2-6),26(23.5-30)vs.4(1.5-6),P<0.001].No complications such as laryngeal spasm and laryngeal edema occurred during perioperative period.CONCLUSION Arytenoid cartilage reduction under modified general anesthesia has high safety,good patient cooperation and high reduction success rate.It provides a new option for the treatment of arytenoid dislocation.
8.Association between the outcome of anti-leucine-rich glioma-inactivated protein 1 antibody-related encephalitis and the characteristics of brain glucose metabolism
Jingjie GE ; Jingguo WANG ; Xiangjun CHEN ; Yunhao YANG ; Huamei LIN ; Bo DENG ; Jing WANG ; Quanling JIANG ; Yihui GUAN ; Chuantao ZUO
Chinese Journal of Nuclear Medicine and Molecular Imaging 2025;45(4):206-211
Objective:To investigate the potential value of cerebral glucose metabolism characteristics in anti-leucine-rich glioma-inactivated protein 1 (LGI1) antibody-related encephalitic patients during acute phase as the clinical indicator of disease outcomes.Methods:From October 2019 to December 2023, 28 patients (18 males, 10 females; age (56.6±11.9) year) with anti-LGI1 antibody-related encephalitis diagnosed at Huashan Hospital, Fudan University were prospectively enrolled. All patients received baseline brain 18F-FDG PET imaging and were divided into different subgroups according to the prognosis (good prognosis and poor prognosis groups) and recurrence (recurrence and non-recurrence groups) after follow-up. The difference of Montreal Cognitive Assessment (MoCA) score between the two groups was compared by Mann-Whitney U test. Statistical parametric mapping (SPM) analysis was used to analyze the PET images of different groups by independent-sample t test, and the characteristics of cerebral glucose metabolism of patients with different outcomes were obtained. Results:MoCA scores between the recurrence group ( n=6) and the non-recurrence group ( n=22; 14.0(9.8, 20.5) vs 22.0(18.0, 24.0); Z=2.17, P=0.030), and between the poor prognosis group ( n=13) and the good prognosis group ( n=15; 14.0(10.0, 22.0) vs 22.0(19.8, 25.3); Z=2.47, P=0.013) were significantly different. Compared with the good prognosis group, the cerebral glucose metabolism in the poor prognosis group was decreased in the bilateral frontal lobe, lateral temporal lobe, inferior parietal lobule and cingulate gyrus, but increased in the brainstem, bilateral lentiform nucleus and bilateral paracentral lobule/postcentral gyrus (all t=1.71, all P<0.05). Compared with the non-recurrence group, the metabolism of bilateral medial frontal gyrus, anterior cingulate gyrus, bilateral insula, superior temporal gyrus and thalamus decreased in the recurrence group, while the metabolism of bilateral precentral gyrus, inferior frontal gyrus and bilateral lentiform nucleus increased (all t=1.71, all P<0.05). Conclusion:18F-FDG PET imaging reveals the differences in brain metabolism of anti-LGI1 antibody-related encephalitic patients at baseline with different outcomes (prognosis, recurrence or not), which can provide a new perspective for the clinical evaluation of the disease at baseline.
9.Audiological characterization of the GJB2 gene c. 109G>A (p.V37I) hotspot variant during childhood and comparison between family members
Zhoushu ZHENG ; Jiangyang XUE ; Lu DING ; Jiewen PAN ; Meihong WANG ; Yinghui ZHANG ; Danyan ZHUANG ; Yihui YANG ; Ming TANG ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(9):1061-1068
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.
10.Short-term efficacy of rituximab in children with calcineurin inhibitor resistant steroid resistant nephrotic syndrome
Sicheng YU ; Jialu LIU ; Jiaojiao LIU ; Xiaoyan FANG ; Jing CHEN ; Qianfan MIAO ; Xiaoshan TANG ; Zhiqing ZHANG ; Chunyan WANG ; Rufeng DAI ; Xinli HAN ; Yihui ZHAI ; Hong XU ; Qian SHEN
Chinese Journal of Pediatrics 2025;63(2):185-189
Objective:To investigate the short-term efficacy and safety of rituximab (RTX) in children with calcineurin inhibitor (CNI) resistant steroid resistant nephrotic syndrome (SRNS).Methods:A retrospective case analysis was conducted. Thirteen children with CNI resistant SRNS who were regularly treated with RTX (375 mg/m 2 per dose (maximum dose 500 mg), 1 dose per week, a total of 4 doses) in Department of Nephrology, Children′s Hospital of Fudan University from January 2016 to December 2023 were enrolled. The general data, disease related information, urinary protein/creatinine, serum albumin, blood creatinine before RTX treatment, immunosuppressants, adverse events, and monthly urinary protein/creatinine, serum albumin, and blood creatinine indexes within 6 months after RTX treatment were collected. The changes of urinary protein/creatinine, serum albumin and estimated glomerular filtration rate (eGFR) before and after RTX at 3 and 6 months were analyzed by using paired sample t test and Wilcoxon signed-rank test. Results:Among the 13 patients, 8 were male and 5 were female. The age of disease onset was 4.0 (2.9, 6.8) years and the age of RTX treatment was 9.8 (5.9, 13.6) years. There were 8 cases of focal segmental glomerulosclerosis, 3 cases of minimal change disease and 2 cases of mesangial proliferative glomerulonephritis. No clinically significant gene variation was detected in 12 cases and the other one did not receive gene test. Before RTX treatment, 11 cases were in chronic kidney disease stage G1, and 1 case each was in stage G2 and stage G3. Ten children completed 4 doses of RTX treatment, 1 patient completed 3 doses, and 2 patients completed 2 doses. Urinary protein/creatinine in 13 children at 3 and 6 months after RTX treatment was significantly lower than baseline (0.60 (0.13, 2.04), 0.49 (0.28, 1.10) vs. 1.44 (0.76, 4.11) mg/mg, Z=-2.34, -2.34, both P<0.05), and serum albumin was significantly higher than baseline ((35±8), (34±7) vs. (30±6) g/L, t=2.30, 2.60, both P<0.05). The eGFR at 6 months after RTX treatment was not significantly different from the baseline ((110±32) vs. (113±35) ml/(min·1.73 m 2), t=-0.76, P>0.05)). No serious adverse reactions occurred in this study. Conclusion:RTX could reduce urinary protein and increase serum albumin in short-term treatment in children with CNI resistant SRNS without significant side effects.

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