1.Expert consensus on the application of artificial intelligence in lung cancer screening, diagnosis, and treatment (2026 edition)
Wenzhao ZHONG ; Haibo WANG ; Yi HU ; Hao ZHANG ; Jigang DAI ; Junqiang FAN ; Guibin QIAO ; Fan YANG ; Jian HU ; Fengwei TAN ; Xuening YANG ; Qiang PU ; Zihao CHEN ; Hongxia TIAN ; Lunxu LIU ; Hecheng LI ; Xiaolong YAN ; Zongyang YU ; Zhenbin QIU ; Yihua SUN ; Jing HU ; Yuhang SHI ; Zhifei GUO ; Peng ZHANG ; Kezhong CHEN ; Shugeng GAO ; Yilong WU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(06):848-856
With the continuous deepening of the concept of precision diagnosis and treatment for lung cancer, how to achieve higher efficiency and accuracy in the screening, diagnosis, and treatment pathways in clinical practice has become an important issue that urgently needs to be overcome. The current clinical difficulty lies in the fact that despite continuous advancements in imaging and molecular diagnostic technologies, there are still limitations in manual efficiency and subjective experience when it comes to massive data analysis and multi-scale feature extraction. Artificial intelligence (AI), especially algorithm systems based on deep learning, is an innovative technology capable of deeply empowering medical big data. This method utilizes algorithms such as convolutional neural networks, combined with radiomics, pathomics, and multi-modal data fusion analysis, demonstrating immense potential in early precise detection and benign-malignant differentiation of pulmonary nodules, digital pathological subtype recognition and non-invasive prediction of driver genes, precise 3D surgical planning and automatic delineation of radiotherapy target volumes, as well as dynamic risk warning during follow-up. This innovative technology provides a brand-new solution for realizing intelligent and individualized lung cancer diagnosis and treatment models. This consensus, based on the latest evidence from evidence-based medicine and combined with the development trends in the AI field and real-world clinical needs, was ultimately formed by gathering the consensus opinions of multidisciplinary experts in radiology, pathology, thoracic surgery, and other fields. The main content covers the application specifications of AI in the three core scenarios of lung cancer screening, diagnosis, and treatment, the technical standards for data collection and algorithm validation, as well as the ethical and regulatory challenges faced at the current stage. It aims to clarify the applicable boundaries of AI as a clinical auxiliary decision support tool, providing scientific guidance and standardized exploration directions for peers currently engaged in or planning to carry out AI-assisted clinical diagnosis, treatment, and translation of lung cancer.
2.Efficacy and safety of neoadjuvant immunotherapy combined with chemotherapy for resectable non-small cell lung cancer
Dongbao YANG ; Kaize ZHONG ; Hongmei MA ; Shifa ZHANG ; Hongfeng LIU ; Liji CHEN ; Jishen ZHANG ; Haibo CAI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(06):920-926
Objective To explore the efficacy and safety of neoadjuvant immunotherapy combined with chemotherapy in patients with locally advanced resectable non-small cell lung cancer (NSCLC). Methods The clinical data of patients with stage ⅡA-ⅢB NSCLC who underwent surgical treatment after receiving neoadjuvant immunotherapy combined with chemotherapy or chemotherapy alone at the First People’s Hospital of Jining between April 2021 and January 2024 were retrospectively analyzed. According to the preoperative neoadjuvant regimens, the patients were divided into a combined group and a chemotherapy group, and the clinical data of the two groups were compared. Results A total of 66 patients were included, including 61 males and 5 females. There were 53 patients in the combined group with a mean age of (63.40±6.80) years, and 13 patients in the chemotherapy group with a mean age of (58.62±8.30) years. There was a statistical difference in age between the two groups (P<0.001), while no statistical difference was observed in other baseline data (P>0.05). The major pathological response rates in the combined group and the chemotherapy group were 54.7% and 23.1%, respectively (P=0.041), and the pathological complete response rates were 39.6% and 0.0%, respectively (P=0.006). The operative time in the combined group was shorter (P=0.039). There were no statistical differences between the two groups in intraoperative blood loss, duration of postoperative tube carrying, incidence of postoperative complications, overall survival, or event-free survival (P>0.05). Conclusion Surgical treatment following neoadjuvant immunotherapy combined with chemotherapy is safe and feasible, and its long-term efficacy requires further follow-up for confirmation.
3.Efficacy and safety of neoadjuvant sintilimab plus chemotherapy for locally advanced resectable esophageal squamous cell carcinoma
Liji CHEN ; Junjun HUANG ; Hongmei MA ; Shifa ZHANG ; Dongbao YANG ; Jiuhe SUN ; Hongfeng LIU ; Kaize ZHONG ; Haibo CAI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(07):1071-1078
Objective To observe the efficacy and safety of neoadjuvant sintilimab combined with chemotherapy in the treatment of patients with locally advanced resectable esophageal squamous cell carcinoma (ESCC). Methods Clinical data were collected from patients with locally advanced resectable ESCC who received neoadjuvant immunotherapy combined with chemotherapy followed by surgical treatment at the Department of Thoracic Surgery of Jining No.1 People's Hospital from April 2020 to April 2022. The endpoints included major pathological response (MPR), pathological complete response (pCR), R0 resection rate, safety, and postoperative survival. Results A total of 43 patients with ESCC who received at least one cycle of neoadjuvant immunotherapy before surgery were included. Among them, there were 31 males and 12 females with a median age of 65 years (interquartile range: 58-69). All patients successfully completed the surgery without any surgical delays. The pCR rate was 14.0% (6/43), the MPR rate was 58.1% (25/43), and the R0 resection rate was 97.7% (42/43). Patients exhibited reliable safety during neoadjuvant therapy and postoperatively. The 2-year overall survival and disease-free survival rates were 90.7% and 81.4%, respectively. Kaplan-Meier survival analysis and log-rank test revealed lower recurrence rates and better survival in the MPR patients compared to the non-MPR patients. Conclusion The combination of neoadjuvant sintilimab and chemotherapy in the treatment of patients with locally advanced resectable ESCC has demonstrated significant clinical efficacy, while also being safe and reliable.
4.Craniopharyngioma: a clinicopathological analysis of 71 cases
Xiaoyu YANG ; Yujie LI ; Chong GE ; Yuan LI ; Haibo WU
Chinese Journal of Pathology 2025;54(8):798-804
Objective:To investigate the clinicopathological characteristics of adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP).Methods:A total of 71 cases craniopharyngioma, included 52 cases of ACP and 19 cases of PCP, diagnosed at the First Affiliated Hospital of University of Science and Technology of China (Anhui Provincial Hospital), Hefei, China from September 2019 to November 2023 were collected. Clinical pathological data were analyzed, immunohistochemical staining was performed, and mutations in the CTNNB1 and BRAF V600E genes were examined to identify differences between ACP and PCP.Results:The ACP cohort comprised 27 male and 25 female patients, with an age at onset ranging from 6 to 70 years, mean age (42.0±18.3) years. In contrast, the PCP group included 15 males and 4 females, with an age at onset spanning 28 to 74 years, mean age (51.0±13.3) years. The ACP group more commonly showed calcifications on imaging than the PCP group [92.3% (48/52) versus 11/19]. Partial tumor resection and the maximum diameter of the tumor were important factors affecting the recurrence of ACP. Whorled cell clusters, wet keratinization, stellate reticulum, cysts, and calcification were more often seen in ACP than PCP ( P<0.05). Immunohistochemically, all (100%,52/52) of the ACP showed nuclear β-catenin expression, with varying degrees of expression in the nodular whorls, and scattered cytoplasmic β-catenin expression. The BRAF V600E expression was found in the cytoplasm of all (19/19) PCP cases, but only non-specific BRAF V600E nuclear positivity was observed in ACP cases. Molecular testing showed that the mutation rate of the CTNNB1 gene in ACP was 22.7% (5/22), and the mutation rate of the BRAF V600E in PCP was 19/19. Conclusions:ACP and PCP have different age at onset, radiological features, histopathological morphology, and genetic alterations. Proper use and interpretation of immunohistochemical results can help distinguish between ACP and PCP, while molecular testing can be used as an auxiliary diagnostic modality.
5.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.
6.Construction and evaluation of clinical department evaluation system based on DRG
Yue WU ; Xipingcuo ZHA ; Chaohua LIU ; Haibo TANG ; Weixian YANG
Modern Hospital 2025;25(7):1042-1044,1048
Objective To develop a differentiated performance evaluation system for surgical and non-surgical clinical departments based on Diagnosis-Related Groups(DRG),promoting refined hospital management.Methods Data from 13 clini-cal departments in a tertiary hospital in Tibet Autonomous Region(2022-2024)were analyzed and evaluated using the entropy weight method combined with the TOPSIS method and quadrant analysis.Results A dual-track evaluation system was estab-lished,comprising 10 indicators for surgical departments and 9 for non-surgical departments.Weight analysis revealed that the proportion of Grade Ⅳ surgeries(weight 0.20)and total DRG weight(0.13)were core competitiveness indicators for surgical departments,while the proportion of patients with RW≥2.0(0.29)and Case Mix Index(CMI)(0.15)were key drivers for non-surgical departments.TOPSIS evaluation showed that orthopedics and general surgery ranked highest among surgical depart-ments,whereas pediatric ward Ⅱ and internal medicine ward Ⅰ led among non-surgical departments.Evaluation results were con-sistent over the three-year period and aligned with quadrant analysis.Conclusion The classification-based evaluation system for clinical departments facilitates refined hospital management.It is recommended for application in performance appraisal and other management initiatives to further enhance high-quality hospital development.
7.Predictability of the corneal stromal reduction with smart pulse technology-assisted transperitoneal photorefractive keratomileusis and femtosecond la-ser-assisted in situ keratomileusis
Ouyang ZHANG ; Yan LI ; Hua YANG ; Haibo YAN ; Zeyu YAN ; Baojun WANG
Recent Advances in Ophthalmology 2025;45(4):304-309
Objective To observe the predictability of the corneal stromal reduction with smart pulse technology-as-sisted transperitoneal photorefractive keratomileusis(SPT-TPRK)and femtosecond laser-assisted in situ keratomileusis(FS-LASIK).Methods Patients undergoing laser surgery in the Department of Ophthalmology of the First Affiliated Hos-pital of Xinxiang Medical College from February to September 2023 were selected and divided by surgical modalities into an SPT-TPRK group(21 cases,37 eyes)and an FS-LASIK group(18 cases,32 eyes).The uncorrected visual acuity(UCVA),intraocular pressure,corneal thickness,and corneal epithelial thickness were measured before surgery,1 week,1 month and 3 months after surgery.The cutting deviation was calculated,and the change of corneal stromal thickness was ob-served.The correlation between the predicted corneal stromal reduction and the cutting deviation was analyzed.Results There were significant differences in UCVA among different time points in both SPT-TPRK and FS-LASIK groups(all P<0.001).The UCVA of patients in the FS-LASIK group was significantly higher than that in the SPT-TPRK group 1 week after surgery(P<0.001).The difference in UCVA was not statistically significant between the two groups 1 month and 3 months after surgery(all P>0.05).There were significant differences in intraocular pressure among different time points in both SPT-TPRK and FS-LASIK groups(all P<0.001).The FS-LASIK group had a lower intraocular pressure than the SPT-TPRK group 1 week after surgery(P<0.05),but the difference in intraocular pressure was not statistically significant between the two groups 1 month and 3 months after surgery(all P>0.05).There was significant difference between predicted cor-neal stromal reductions and actual corneal stromal reductions measured at different time points postoperatively in both SPT-TPRK and FS-LASIK groups(all P<0.001).The actual corneal stromal reductions were higher than the predicted ones in the SPT-TPRK group at all postoperative time points(all P<0.05).In the FS-LASIK group,the actual corneal stromal re-ductions were higher than the predicted ones 1 week and 1 month after surgery(all P<0.05),but the actual and predicted corneal stromal reductions were not significantly different 3 months after surgery(P>0.05).The cutting deviations were not significantly different between SPT-TPRK and FS-LASIK groups 1 month after surgery(P>0.05),while the cutting de-viations were significantly different between the two groups 1 week and 3 months after surgery(all P<0.05).There were significant differences in the change of the stromal thickness among different time points in both SPT-TPRK and FS-LASIK groups(all P<0.05).There was no significant difference in the change of the stromal thickness among different time points in the SPT-TPRK group(all P>0.05).The stromal thickness showed greater changes 1 month after surgery than that 1 week after surgery in the FS-LASIK group(P<0.05).There were no significant differences in the change of the stromal thickness between 1 month and 3 months after surgery in the FS-LASIK group(P>0.05).Correlation analysis showed a positive correlation between the predicted corneal stromal reduction and the cutting deviation in the SPT-TPRK group 1 week after surgery(P<0.05),but they had no correlation 1 month and 3 months after surgery(all P>0.05).There was no correlation between the predicted corneal stromal reduction and the cutting deviation in the FS-LASIK group at all post-operative time points(all P>0.05).Conclusion Patients who receive SPT-TPRK or FS-LASIK can both achieve good visual acuity and a reduction in intraocular pressure.FS-LASIK has better predictability in refractive error correction than SPT-TPRK.
8.Effects of estradiol on retinal injury and pyroptosis-related pathways in rats with ocular hypertension
Haibo YAN ; Songtao WANG ; Hua YANG ; Ouyang ZHANG ; Shichao JI ; Rui YANG ; Baojun WANG
Recent Advances in Ophthalmology 2025;45(1):27-32
Objective To explore the injury process of retinal ganglion cells(RGCs)after glucocorticoid(GC)-in-duced ocular hypertension(OHT),as well as the protective effect and mechanism of estradiol(E2)in RGC injury in rats with OHT.Methods Atotalof36(36 eyes)12-week-old male Sprague-Dawley(SD)rats were randomly divided into the blank control group,the GC-OHT group,and the OHT-E2 group,with 12 rats in each group.Rats in the GC-OHT group and the OHT-E2 group were subconjunctivally injected with GC,while those in the blank control group were subconjuncti-vally injected with an equal volume of normal saline.Two weeks after modeling,in addition to being injected with GC,rats in the OHT-E2 group were also provided with E2 eye drops.Before modeling and 1,2,3,and 4 weeks after modeling,the intraocular pressure of rats in each group was measured.The visual acuity changes of rats in each group were detected by pattern electroretinogram(P-ERG)and flash visual evoked potential(F-VEP)4 weeks after modeling.After the eyeballs were removed,the distribution and number of RGCs in rats of each group were observed by immunofluorescence staining.Immunohistochemistry,Western blot,and real-time fluorescence-based quantitative polymerase chain reaction were used to detect the relative protein and mRNA expression levels of NOD-like receptor protein 3(NLRP3),cysteine aspartate prote-ase-1(Caspase-1),and gasdermin-D(GSDMD)in rats in each group.Results There was no statistically significant difference in the intraocular pressure of rats in each group before modeling(P>0.05).Compared with the blank control group,the intraocular pressure of rats in the GC-OHT group increased 1,2,3,and 4 weeks after modeling,and the differ-ences were all statistically significant(all P<0.01).Compared with the GC-OHT group,the intraocular pressure of rats in the OHT-E2 group decreased 3 and 4 weeks after modeling,and the differences were all statistically significant(all P<0.01).The P-ERG and F-VEP results showed that compared with the blank control group,the amplitudes of P50 and P1 waves of rats in the GC-OHT group decreased,and the differences were both statistically significant(both P<0.05).Com-pared with the GC-OHT group,the amplitudes of P50 and Pl waves of rats in the OHT-E2 group increased,and the differ-ences were both statistically significant(both P<0.05).The immunofluorescence staining results showed that compared with the blank control group,the number of RGCs of rats in the GC-OHT group decreased,and the difference was statisti-cally significant(P<0.001).Compared with the GC-OHT group,the number of RGCs of rats in the OHT-E2 group in-creased,and the difference was statistically significant(P<0.001).The results of immunohistochemistry,Western blot,and real-time fluorescence-based quantitative polymerase chain reaction showed that compared with the blank control group,the relative protein and mRNA expression levels of NLRP3,Caspase-1,and GSDMD in the retina of rats in the GC-OHT group all increased,and the differences were all statistically significant(all P<0.05).Compared with the GC-OHT group,the relative protein and mRNA expression levels of NLRP3,Caspase-1,and GSDMD in the retina of rats in the OHT-E2 group all decreased,and the differences were all statistically significant(all P<0.01).Conclusion GC-induced OHT can cause pyroptosis of RGCs,and E2 may alleviate the injury of RGCs in rats with OHT by inhibiting the pyroptosis-related NLRP3/Caspase-1/GSDMD signaling pathway.
9.Coupling of an Au@AgPt nanozyme array with an micrococcal nuclease-specific responsiveness strategy for colorimetric/SERS sensing of Staphylococcus aureus in patients with sepsis
Xueqin HUANG ; Yingqi YANG ; Hanlin ZHOU ; Liping HU ; Annan YANG ; Hua JIN ; Biying ZHENG ; Jiang PI ; Jun XU ; Pinghua SUN ; Huai-Hong CAI ; Xujing LIANG ; Bin PAN ; Junxia ZHENG ; Haibo ZHOU
Journal of Pharmaceutical Analysis 2025;15(2):389-400
Rapid and ultrasensitive detection of pathogen-associated biomarkers is vital for the early diagnosis and therapy of bacterial infections.Herein,we developed a close-packed and ordered Au@AgPt array coupled with a cascade triggering strategy for surface-enhanced Raman scattering(SERS)and colorimetric identification of the Staphylococcus aureus biomarker micrococcal nuclease(MNase)in serum samples.The trimetallic Au@AgPt nanozymes can catalyze the oxidation of 3,3',5,5'-tetramethylbenzidine(TMB)molecules to SERS-enhanced oxidized TMB(oxTMB),accompanied by the color change from colorless to blue.In the presence of S.aureus,the secreted MNase preferentially cut the nucleobase AT-rich regions of DNA sequences on magnetic beads(MBs)to release alkaline phosphatase(ALP),which subsequently mediated the oxTMB reduction for inducing the colorimetric/SERS signal fade away.Using this"on-to-off"triggering strategy,the target S.aureus can be recorded in a wide linear range with a limit of detection of 38 CFU/mL in the colorimetric mode and 6 CFU/mL in the SERS mode.Meanwhile,the MNase-mediated strategy characterized by high specificity and sensitivity successfully discriminated between patients with sepsis(n=7)and healthy participants(n=3),as well as monitored the prog-nostic progression of the disease(n=2).Overall,benefiting from highly active and dense"hot spot"substrate,MNase-mediated cascade response strategy,and colorimetric/SERS dual-signal output,this methodology will offer a promising avenue for the early diagnosis of S.aureus infection.
10.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
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Child
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Genotype
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Connexins/genetics*
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Mutation

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