1.Long-term survival outcomes and prognostic factors following radical resection of pancreatic body and tail cancer:a retrospective analysis of 992 patients
Dong XU ; Yang WU ; Kai ZHANG ; Nan LYU ; Qianqian WANG ; Pengfei WU ; Jie YIN ; Baobao CAI ; Guodong SHI ; Jianzhen LIN ; Yazhou WANG ; Lingdi YIN ; Zipeng LU ; Min TU ; Jianmin CHEN ; Feng GUO ; Jishu WEI ; Junli WU ; Wentao GAO ; Cuncai DAI ; Yi MIAO ; Kuirong JIANG
Chinese Journal of Surgery 2026;64(1):46-54
Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.
2.Regulatory Pathways of Cell Apoptosis in Diabetic Kidney Disease and Intervention by Traditional Chinese Medicine: A Review
Yunjie YANG ; Mingqian JIANG ; Chen QIU ; Yaqing RUAN ; Senlin CHEN ; Wenxin HUANG ; Hangbin ZHENG ; Yi WEI ; Pengfei LI ; Xueqin LIN ; Jing WU ; Shiwei RUAN ; Jianting WANG ; Yuliang QIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(9):294-306
Diabetic kidney disease(DKD) is a chronic kidney structural and functional disorder caused by diabetes. With the global prevalence of diabetes continuing to rise, DKD has gradually become a major cause of chronic kidney disease and end-stage renal disease(ESRD), posing a serious threat to patients' quality of life and long-term health outcomes. Studies have shown that apoptosis plays a pivotal role in the development and progression of DKD, with its mechanisms involving abnormal activation of multiple signaling pathways such as Toll-like receptor 4(TLR4)/nuclear transcription factor-κB(NF-κB)/B-cell lymphoma-2(Bcl-2)/cysteinyl aspartate-specific proteinase(Caspase)-3, protein kinase R-like endoplasmic reticulum kinase(PERK)/eukaryotic initiation factor 2α(eIF2α)/activating transcript factor 4(ATF4)/CCAAT enhancer-binding protein homologous protein(CHOP), phosphatidylinositol 3-kinase(PI3K)/protein kinase B(Akt)/glycogen synthase kinase-3β(GSK-3β), Janus kinase 2(JAK2)/signal transducer and activator of transcription 3(STAT3), adenosine monophosphate-activated protein kinase(AMPK)/mammalian target of rapamycin(mTOR) and silent information regulator 1(SIRT1)/tumor suppressor protein 53(p53), thereby accelerating renal pathological damage in DKD. Extensive evidence-based medical studies have confirmed that traditional Chinese medicine(TCM), leveraging its unique therapeutic advantages of multi-target, multi-component and multi-pathway approaches, has demonstrated remarkable efficacy and favorable safety profiles in treating DKD. Recent studies have demonstrated that active components of TCM can specifically target and modulate key effectors in apoptotic signaling pathways. Meanwhile, traditional compound formulations exert synergistic effects through multiple approaches such as replenishing deficiency and activating blood circulation, detoxifying and dredging collaterals, tonifying kidney essence, and removing stasis and purging turbidity, thereby comprehensively regulating critical pathological processes including endoplasmic reticulum stress and mitochondrial apoptosis pathways. This combined therapeutic approach of molecular targeting and holistic regulation provides novel strategies for delaying the progression of DKD. Based on this, this paper provides an in-depth analysis of key apoptotic signaling pathways and their regulatory mechanisms, while systematically summarizing recent research advances regarding the therapeutic effects of TCM active components, compound formulations, and proprietary Chinese medicines on DKD through modulation of these pathways, with particular emphasis on their underlying molecular mechanisms. These findings not only elucidate the modern scientific connotation and theoretical basis of TCM in treating DKD but also establish a solid theoretical and practical foundation for promoting the wider clinical application and further research of TCM in the field of DKD treatment.
3.Mechanism of pachymic acid in ameliorating renal injury in pregnancy induced hypertension rats by regulating the Sirt1/PGC‑1α pathway
Junjiang ZHU ; Jincheng LIN ; Jiajian WU ; Yi ZENG ; Jun HU ; Min LI ; Hongying LIU ; Jinfen LI
China Pharmacy 2026;37(2):186-191
OBJECTIVE To investigate the mechanism of pachymic acid on renal injury in pregnancy induced hypertension (PIH) rats by regulating the silent information regulator transcript 1/peroxisome proliferator-activated receptor γ coactivator-1α (Sirt1/PGC-1α) pathway. METHODS Pregnant SD rats were prepared by co-caging and PIH model was induced using N-nitro-L- arginine methyl ester (L-NAME) method. PIH rats were randomly divided into model group, L-pachymic acid (low-dose pachymic acid, 10 mg/kg) group, H-pachymic acid (high-dose pachymic acid, 20 mg/kg) group, and H-pachymic acid+EX527 (20 mg/kg pachymic acid+10 mg/kg EX527) group, with 6 rats in each group. Another 6 normal pregnant rats were selected as blank group. Each group was given relevant medicine or solvent intragastrically or intraperitoneally daily, once a day, for 28 consecutive days. After the last administration, 24 h urinary protein and tail artery systolic blood pressure (SBP) were measured in pregnant rats from each group, along with the levels of serum creatinine (Scr), blood urea nitrogen (BUN),uric acid (UA), and cystatin C (Cys-C). The contents of superoxide dismutase (SOD), malondialdehyde (MDA), glutathione peroxidase (GSH-Px), and 8-hydroxy-2′-deoxyguanosine (8-OHdG) in renal tissue, as well as the mRNA and protein expression levels of Sirt1 and PGC-1α, were also determined. Meanwhile, renal histopathological changes in rats from each group were evaluated using hematoxylin-eosin (HE) staining and periodic acid-Schiff (PAS) staining. RESULTS Compared with model group, L-pachymic acid group and H-pachymic acid group exhibited significant decreases in 24 h urine protein quantification, tail artery SBP, Scr, BUN, UA, Cys-C levels, glomerulosclerosis index score of renal tissue, renal tubular injury score, the percentage of PAS positive area, MDA and 8-OHdG (P<0.05). Conversely, the contents of SOD and GSH-Px, along with the mRNA and protein expression levels of Sirt1 and PGC-1α, were significantly increased (P<0.05). Moreover, these improvements were more pronounced in H-pachymic acid group (P<0.05). Compared with H-pachymic acid group, the aforementioned indicators in pregnant rats from the H-pachymic acid+EX527 group showed significant reversal (P<0.05). CONCLUSIONS Pachymic acid significantly ameliorates renal injury induced by PIH in rats, potentially through activation of the Sirt1/PGC-1α pathway.
4.Long-term survival outcomes and prognostic factors following radical resection of pancreatic body and tail cancer:a retrospective analysis of 992 patients
Dong XU ; Yang WU ; Kai ZHANG ; Nan LYU ; Qianqian WANG ; Pengfei WU ; Jie YIN ; Baobao CAI ; Guodong SHI ; Jianzhen LIN ; Yazhou WANG ; Lingdi YIN ; Zipeng LU ; Min TU ; Jianmin CHEN ; Feng GUO ; Jishu WEI ; Junli WU ; Wentao GAO ; Cuncai DAI ; Yi MIAO ; Kuirong JIANG
Chinese Journal of Surgery 2026;64(1):46-54
Objective:To investigate the survival outcomes and prognostic factors in patients undergoing radical resection for pancreatic body and tail cancer.Methods:A retrospective case series study was conducted on 992 patients who underwent radical resection for pancreatic body and tail cancer at the Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University from January 2016 to June 2024. In this study, 577 (58.2%) were male and 415 (41.8%) were female,with an age of (65±9) years (range: 26 to 86 years). Follow-up continued until June 2024. Survival rates were estimated using the Kaplan-Meier method,and prognostic factors were identified using univariate and multivariate Cox proportional hazards models.Results:Among 992 patients,open surgery was the predominant approach (89.1%, 884/992), and radical antegrade modular pancreatosplenectomy (RAMPS) was performed in 317 patients (32.0%). Combined organ resection,venous resection,and arterial resection were performed in 23.5%, 9.3%,and 11.2% of patients,respectively. The rates of R0, R1-1 mm, and R1-direct resections were 49.8% (494/992),41.5% (412/992), and 8.7% (86/992),respectively. Stage ⅡB was the most common TNM stage (32.2%,319/992). A total of 801 patients (80.8%) received adjuvant chemotherapy. The median follow-up period was 32.0(8.8) months(range:3.2 to 105.3 months),during which 508 patients (51.2%) died. The overall median survival (OS) was 26.4 months,with 1-,3-, and 5-year survival rates of 79.0%,40.0%, and 29.0%, respectively. In the recent five years (from 2020 to 2024), the median OS improved significantly to 34.1 months compared to 20.0 months from 2016 to 2019 ( P<0.01). Histological subtype analysis showed that the median OS time was 26.7 months for pancreatic ductal adenocarcinoma (PDAC, n=855),58.9 months for invasive intraductal papillary mucinous carcinoma (IPMC, n=32),and 15.7 months for adenosquamous carcinoma of pancreas (ASCP, n=73) ( P=0.001). Among PDAC patients, adjuvant chemotherapy significantly improved survival (29.1 months vs. 14.4 months, P<0.01);in IPMC patients, adjuvant chemotherapy also extended survival (65.7 months vs. 58.9 months, P=0.047). Although ASCP patients receiving chemotherapy had a longer median OS time than those without (18.8 months vs. 8.9 months),the difference was not statistically significant ( P=0.151). Multivariate Cox regression analysis in PDAC patients indicated that adjuvant chemotherapy, R0 resection, T stage,N stage,and tumor differentiation were independent prognostic factors ( P<0.01). The median OS time by TNM stage was:not reached for stage ⅠA, 51.6 months for ⅠB, 25.5 months for ⅡA, 23.7 months for ⅡB, 23.0 months for Ⅲ, and 14.4 months for Ⅳ. The median OS time for R0,R1-1 mm,and R1-direct resections was 34.1,24.7,and 15.7 months,respectively ( P<0.01). Conclusion:Adjuvant chemotherapy,R0 resection,tumor stage,and differentiation are independent prognostic factors for pancreatic body and tail cancer.
5.Bali Chronic Constipation Roundtable Report: Chronic ConstipationManagement in Asia
Yi Ping REN ; Wah Loong CHAN ; Kee Huat CHUAH ; Yong Sung KIM ; Atsushi NAKAJIMA ; Sanjiv MAHADEVA ; Yeong Yeh LEE ; Andrew S B CHUA ; Tao BAI ; Ari Fahrial SYAM ; Chien-Lin CHEN ; Ching-Liang LU ; M. Masudur RAHMAN ; Tanisa PATCHARATRAKUL ; Victoria Ping Y TAN ; Dao Viet HANG ; Xiaohua HOU ; Yinglian XIAO ; Justin WU ; Uday C GHOSHAL ; Hidekazu SUZUKI ; Sutep GONLACHANVIT ; Kewin T H SIAH
Journal of Neurogastroenterology and Motility 2026;32(1):109-128
Background/Aims:
Chronic constipation is prevalent yet under-diagnosed across Asia, compromising quality of life and burdening healthcare systems. Cultural stigma, varied diets, and limited access to standardized diagnostic tools delay timely care.
Methods:
The Bali Chronic Constipation Roundtable in November 2024, brought together experts from 11 Asian countries. The group reviewed epidemiological data, analyzed multinational questionnaire on clinical practice pattern, and conducted structured discussions to identify key barriers and propose region-specific recommendations.
Results:
Chronic constipation prevalence varies across Asia, ranging from 1.8% in India to 16.6% in Japan, with women and the elderly disproportionately affected. Under-reporting persists owing to cultural taboos and widespread self treatment with laxatives and traditional medications. Although the Rome IV criteria remains the global standard, they may not fully reflect Asian symptom profiles, and diagnosis is limited by scarce motility laboratories. First line therapies such as dietary-fiber optimization and osmotic laxatives are widely available, but newer pharmacotherapies (prucalopride, linaclotide, lubiprostone, and elobixibat) remain costly and unevenly accessible. Biofeedback for dyssynergic defecation is underutilized due to limited availability. Experts recommend expanded regional research on to refine diagnostic criteria, coupled with enhanced physician education and public awareness. They advocate accessibility to second-line and novel therapies that incorporate culturally attuned regional guidelines, and improved access to gastrointestinal motility testing.
Conclusions
The Bali Chronic Constipation Roundtable highlighted Asia’s need for region specific diagnostics and management. Addressing diagnostic and treatment gaps will improve outcomes, while ongoing researcher clinician policy collaboration must standardize guidelines, advance research, and ensure equitable care across Asia.
6.Harnessing Machine Learning for Personalized Care of Patients With Idiopathic Sudden Sensorineural Hearing Loss: A Multicenter Cohort Study
Yen-Ting GUO ; Ching-Ting TAN ; Chen-Chi WU ; Chun-Ying WANG ; Chein-Yu HUANG ; Tzu-Hsiang YANG ; Ting-Yi LEE ; Ting-Hua YANG ; Tien-Chen LIU ; Pey-Yu CHEN ; Pei-Hsuan LIN
Clinical and Experimental Otorhinolaryngology 2026;19(2):194-204
Objectives:
. Idiopathic sudden sensorineural hearing loss (ISSNHL) is a significant cause of hearing loss. Intratympanic steroid injection (ITSI) is commonly used as an initial or salvage treatment; however, the lack of a standardized treatment protocol has resulted in variability in clinical practice. In addition, no efficient prediction model currently exists to support personalized management. Therefore, this study aimed to develop tailored management strategies for ISSNHL using a machine-learning model.
Methods:
. This retrospective multicenter cohort study was conducted between January 2015 and December 2020, with data analysis performed between January 2021 and March 2024. Patients were selected based on the International Classification of Diseases, 10th Revision criteria for ISSNHL, along with relevant medication and procedure codes. Patients with pure-tone audiogram results not meeting ISSNHL criteria, better initial hearing in the affected ear, an identifiable etiology, no post-treatment audiogram, or delayed treatment (>6 weeks) were excluded. We included 770 patients diagnosed with ISSNHL who received ITSI. The primary outcome was the area under the receiver operating characteristic curve for prediction performance. Recovery status was determined using the last pure-tone audiogram. Modeling was conducted on the Quanta for Medical Care AI platform using five machine-learning algorithms and a nested cross-validation framework, in which feature selection and hyperparameter tuning were performed in the inner folds and model performance was evaluated in the outer folds.
Results:
. A random forest classifier outperformed the other models in predicting hearing outcomes, achieving an area under the receiver operating characteristic curve of 0.788. Time to ITSI was the most influential treatment-related factor, with ITSI administered within 10 days of hearing loss being associated with better outcomes. This model can be used to provide personalized prognostic estimates under different treatment protocols.
Conclusion
. The machine-learning-based prediction model facilitates personalized treatment strategies and timely treatment adjustments for ISSNHL, thereby optimizing the likelihood of complete recovery.
7.Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants
Yi-Chia WANG ; Heng-Wen CHOU ; Chi-Hsiang HUANG ; Hsing-Hao HUANG ; Yih-Sharng CHEN ; En-Ting WU ; Shyh-Jye CHEN ; Ming-Tai LIN ; Shuenn-Nan CHIU ; Shu-Chien HUANG
Clinical and Experimental Pediatrics 2026;69(4):322-329
Background:
Patients with coarctation of the aorta (CoA) and an interrupted aortic arch (IAA) may present with small mitral valves (MVs) and a reduced left ventricular (LV) volume. Biventricular repair (BVR) in these patients is dependent on adequate size of the left cardiac structures.Purpose: This study evaluated the impact of the hemodynamic characteristics of atrial septal defects (ASDs) on MV growth following surgical repair.
Methods:
We retrospectively reviewed the data of patients diagnosed with CoA or IAA between 2007 and 2024. The z score for MV size measured 6 months postoperatively (Z2) was compared with the preoperative MV size (Z1). The factors associated with MV growth were also studied.
Results:
A total of 161 patients with CoA or IAA were included. Transthoracic echocardiography was used to assess the MV and LV dimensions preoperatively and 6 months postoperatively. Of the cohort, 155 (96.3%) underwent initial BVR and 6 underwent single-ventricle palliation. MV z scores significantly increased following BVR (mean change: +0.45±1.35; P<0.001) but decreased after single-ventricle repair (-0.56±0.49, P=0.04). Multivariate analysis identified the initial MV z score and ASD pressure gradient as independent predictors of MV growth (R2=0.39).
Conclusion
Annular growth of the MV was not observed in patients who underwent single-ventricle palliation. In contrast, among patients who achieved BVR, those with a small preoperative MV annulus and low ASD pressure gradient demonstrated subsequent catch-up MV growth, suggesting that adequate left-sided preload is essential for MV development.
8.Surveillance of soil-transmitted nematodiasis in Hubei Province from 2016 to 2023
Juan ZHANG ; Wen LIN ; Hong ZHU ; Lun WAN ; Jia YI ; Dongni WU ; Jing XIA ; Li TANG
Chinese Journal of Schistosomiasis Control 2026;38(3):287-292
Objective To investigate the prevalence of soil-transmitted nematode human infections in Hubei Province from 2016 to 2023, so as to provide insights into formulation of soil-transmitted nematodiasis control strategies and evaluation of soil-transmitted nematodiasis control effectiveness. Methods There were 10 surveillance points established in Hubei Province for soil-transmitted nematodiasis each year from 2016 to 2023. The surveillance points were divided into eastern, western, southern, northern and central regions according to geographical locations, and one administrative village was sampled from a township in each region as a surveillance point. Then, at least 200 permanent residents at ages of over 3 years were randomly sampled at each point, with at least 1 000 individuals sampled. Soil-transmitted nematode infection was detected using a modified Kato-Katz thick smear method (two slides for one stool sample), and Enterobius vermicularis infection was additionally detected with a cellophane tape test among children at ages of 3 to 9 years. The prevalence of soil-transmitted nematode human infections was descriptively analyzed. Results A total of 80 547 individuals underwent surveillance for soil-transmitted nematodiasis in Hubei Province from 2016 to 2023, and a total of 262 individuals were detected with soil-transmitted nematode infections, including two cases with mixed infections, yielding an overall prevalence rate of 0.33% (262/80 547). The prevalence rates of hookworm, Ascaris lumbricoides, Trichuris trichiura, and E. vermicularis infections were 0.02% (20/80 547), 0.07% (55/80 547), 0.02% (15/80 547) and 0.22% (174/80 547), respectively, appearing a parasite species-specific prevalence rate (χ2 = 250.235, P < 0.05), and the prevalence rates of soil-transmitted nematode infections were 0.50%(51/10271),0.37%(34/9120),0.39%(39/10099),0.40%(41/10168), 0.36% (37/10 234), 0.45% (46/10 211), 0.03% (3/10 238) and 0.11% (11/10 206) in Hubei Province from 2016 to 2023, respectively, showing a year-specific prevalence rate (χ2 = 60.589, P < 0.05). Soil-transmitted nematode infections were detected across 36 surveillance points, and there was a significant difference in the prevalence of soil-transmitted nematode infections among surveillance points (0.02% to 3.30%, P < 0.001). In addition, the differences in prevalence rates of human soil-transmitted nematode infection among different age groups (χ2 = 531.091, P < 0.05), occupations (P < 0.001), and education levels (P < 0.001) were all statistically significant. Among these, the children at ages of 3 to 9 years old (1.40%, 174/12 461), nursery-school children (1.69%, 90/5 312) and preschool-aged children (1.56%, 93/5 969) were relatively high. Conclusions The overall prevalence of soil-transmitted nematodiasis was low in Hubei Province from 2016 to 2023; however, the prevalence varied across regions and among populations, with E. vermicularis as the predominant species of soil-transmitted nematode. Soil-transmitted nematodiasis control should be given a high priority in key areas in Hubei Province, and preschool children, primary school students, and individuals with a low educational level are recommended as key target populations for health education and interventions.
9.Outcomes of identifying enlarged vestibular aqueduct (Mondini malformation) related gene mutation in Mongolian people
Jargalkhuu E ; Tserendulam B ; Maralgoo J ; Zaya M ; Enkhtuya B ; Ulzii B ; Ynjinlhkam E ; Chuluun-Erdene Ts ; Chen-Chi Wu ; Cheng-Yu Tsai ; Yin-Hung Lin ; Yi-Hsin Lin ; Yen-Hui Chan ; Chuan-Jen Hsu ; Wei-Chung Hsu ; Pei-Lung Chen
Mongolian Journal of Health Sciences 2025;87(3):8-15
Background:
Hearing loss (HL) is one of the most common sensory disorders,
affecting over 5-8% of the world's population. Approximately half of HL cases are
attributed to genetic factors. In hereditary deafness, about 75-80% is inherited
through autosomal recessive inheritance, and common pathogenic genes include
GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading
cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged
vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646).
DFNB4 is characterized by sensorineural hearing loss combined with EVA or less
common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to
thyroid goiter. Currently, it is known that EVA is associated with variants in the
SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant
mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and
c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G
in Han Taiwanese and Han Chinese. On the other hand, there has been no study
of hearing loss related to SLC26A4 gene variants among Mongolians, which is the
basis of our research.
Aim:
We aimed to identify the characteristics of the SLC26A4 gene variants in
Mongolian people with Enlarged vestibular aqueduct and Mondini malformation.
Materials and Methods:
In 2022-2024, We included 13 people with hearing loss
and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea
with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National
Taiwan University Hospital.
Results:
Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic
SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19%
(5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8%
(2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C
(p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years
old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4:
c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing
loss.
Conclusions
1. 26 variants of bi-allelic SLC26A4 gene mutation were detected
in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was
the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A
(p.V239D) were detected.
2. Our study shows that whole-exome sequencing (WES) can identify gene
mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.
10.Antiviral therapy for chronic hepatitis B with mildly elevated aminotransferase: A rollover study from the TORCH-B trial
Yao-Chun HSU ; Chi-Yi CHEN ; Cheng-Hao TSENG ; Chieh-Chang CHEN ; Teng-Yu LEE ; Ming-Jong BAIR ; Jyh-Jou CHEN ; Yen-Tsung HUANG ; I-Wei CHANG ; Chi-Yang CHANG ; Chun-Ying WU ; Ming-Shiang WU ; Lein-Ray MO ; Jaw-Town LIN
Clinical and Molecular Hepatology 2025;31(1):213-226
Background/Aims:
Treatment indications for patients with chronic hepatitis B (CHB) remain contentious, particularly for patients with mild alanine aminotransferase (ALT) elevation. We aimed to evaluate treatment effects in this patient population.
Methods:
This rollover study extended a placebo-controlled trial that enrolled non-cirrhotic patients with CHB and ALT levels below two times the upper limit of normal. Following 3 years of randomized intervention with either tenofovir disoproxil fumarate (TDF) or placebo, participants were rolled over to open-label TDF for 3 years. Liver biopsies were performed before and after the treatment to evaluate histopathological changes. Virological, biochemical, and serological outcomes were also assessed (NCT02463019).
Results:
Of 146 enrolled patients (median age 47 years, 80.8% male), 123 completed the study with paired biopsies. Overall, the Ishak fibrosis score decreased in 74 (60.2%), remained unchanged in 32 (26.0%), and increased in 17 (13.8%) patients (p<0.0001). The Knodell necroinflammation score decreased in 58 (47.2%), remained unchanged in 29 (23.6%), and increased in 36 (29.3%) patients (p=0.0038). The proportion of patients with an Ishak score ≥ 3 significantly decreased from 26.8% (n=33) to 9.8% (n=12) (p=0.0002). Histological improvements were more pronounced in patients switching from placebo. Virological and biochemical outcomes also improved in placebo switchers and remained stable in patients who continued TDF. However, serum HBsAg levels did not change and no patient cleared HBsAg.
Conclusions
In CHB patients with minimally raised ALT, favorable histopathological, biochemical, and virological outcomes were observed following 3-year TDF treatment, for both treatment-naïve patients and those already on therapy.

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