1.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.
2.Axillary serratus anterior plane block as a novel approach to anesthetizing the intercostobrachial nerve for upper arm arteriovenous fistula creation surgery -three case reports-
Chi Ho CHAN ; Jia Yin LIM ; Abey M.V. MATHEWS
Korean Journal of Anesthesiology 2025;78(3):279-284
Background:
Current regional anesthesia techniques used to anesthetize the intercostobrachial nerve (ICBN) for upper arm surgery either lack reliability or have increased procedural risks. Safer and more reliable regional anesthetic techniques are required to block the ICBN effectively. Here, we introduce a novel “axillary serratus anterior plane (A-SAP) block” for anesthetizing the ICBN to allow surgical anesthesia for upper arm arteriovenous fistula (UA-AVF) creation. Case: We present 3 cases involving a 79-year-old Chinese male, a 73-year-old Malay female, and a 38-year-old Chinese male, in which the A-SAP block was utilized in UA-AVF creation surgeries. In all 3 cases, the A-SAP block was performed in combination with a supraclavicular brachial plexus block. None of the patients required local anesthetic supplementation intraoperatively.
Conclusions
The A-SAP block reliably and safely anesthetized the ICBN for UA-AVF creation surgery and is a reliable alternative to higher-risk block techniques, such as paravertebral block or neuraxial block.
3.Machine Learning-Based Computed Tomography-Derived Fractional Flow Reserve Predicts Need for Coronary Revascularisation Prior to Transcatheter Aortic Valve Implantation
Kai Dick David LEUNG ; Pan Pan NG ; Boris Chun Kei CHOW ; Keith Wan Hang CHIU ; Neeraj Ramesh MAHBOOBANI ; Yuet-Wong CHENG ; Eric Chi Yuen WONG ; Alan Ka Chun CHAN ; Augus Shing Fung CHUI ; Michael Kang-Yin LEE ; Jonan Chun Yin LEE
Cardiovascular Imaging Asia 2025;9(1):2-8
Objective:
Patients with severe symptomatic aortic stenosis are assessed for coronary artery disease (CAD) prior to transcatheter aortic valve implantation (TAVI) with treatment implications. Invasive coronary angiography (ICA) is the recommended modality but is associated with peri-procedural complications. Integrating machine learning (ML)-based computed tomography-derived fractional flow reserve (CT-FFR) into existing TAVI-planning CT protocol may aid exclusion of significant CAD and thus avoiding ICA in selected patients.
Materials and Methods:
A single-center, retrospective study was conducted, 41 TAVI candidates with both TAVI-planning CT and ICA performed were analyzed. CT datasets were evaluated by a ML-based CT-FFR software. Beta-blocker and nitroglycerin were not administered in these patients. The primary outcome was to identify significant CAD. The diagnostic performance of CT-FFR was compared against ICA.
Results:
On per-patient level, the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and diagnostic accuracy were 89%, 94%, 80%, 97% and 93%, respectively. On per-vessel level, the sensitivity, specificity, PPV, NPV and diagnostic accuracy were 75%, 94%, 67%, 96% and 92%, respectively. The area under the receiver operative characteristics curve per individual coronary vessels yielded overall 0.90 (95% confidence interval 85%–95%). ICA may be avoided in up to 80% of patients if CT-FFR results were negative.
Conclusion
ML-based CT-FFR can provide accurate screening capabilities for significant CAD thus avoiding ICA. Its integration to existing TAVI-planning CT is feasible with the potential of improving the safety and efficiency of pre-TAVI CAD assessment.
4.Axillary serratus anterior plane block as a novel approach to anesthetizing the intercostobrachial nerve for upper arm arteriovenous fistula creation surgery -three case reports-
Chi Ho CHAN ; Jia Yin LIM ; Abey M.V. MATHEWS
Korean Journal of Anesthesiology 2025;78(3):279-284
Background:
Current regional anesthesia techniques used to anesthetize the intercostobrachial nerve (ICBN) for upper arm surgery either lack reliability or have increased procedural risks. Safer and more reliable regional anesthetic techniques are required to block the ICBN effectively. Here, we introduce a novel “axillary serratus anterior plane (A-SAP) block” for anesthetizing the ICBN to allow surgical anesthesia for upper arm arteriovenous fistula (UA-AVF) creation. Case: We present 3 cases involving a 79-year-old Chinese male, a 73-year-old Malay female, and a 38-year-old Chinese male, in which the A-SAP block was utilized in UA-AVF creation surgeries. In all 3 cases, the A-SAP block was performed in combination with a supraclavicular brachial plexus block. None of the patients required local anesthetic supplementation intraoperatively.
Conclusions
The A-SAP block reliably and safely anesthetized the ICBN for UA-AVF creation surgery and is a reliable alternative to higher-risk block techniques, such as paravertebral block or neuraxial block.
5.Axillary serratus anterior plane block as a novel approach to anesthetizing the intercostobrachial nerve for upper arm arteriovenous fistula creation surgery -three case reports-
Chi Ho CHAN ; Jia Yin LIM ; Abey M.V. MATHEWS
Korean Journal of Anesthesiology 2025;78(3):279-284
Background:
Current regional anesthesia techniques used to anesthetize the intercostobrachial nerve (ICBN) for upper arm surgery either lack reliability or have increased procedural risks. Safer and more reliable regional anesthetic techniques are required to block the ICBN effectively. Here, we introduce a novel “axillary serratus anterior plane (A-SAP) block” for anesthetizing the ICBN to allow surgical anesthesia for upper arm arteriovenous fistula (UA-AVF) creation. Case: We present 3 cases involving a 79-year-old Chinese male, a 73-year-old Malay female, and a 38-year-old Chinese male, in which the A-SAP block was utilized in UA-AVF creation surgeries. In all 3 cases, the A-SAP block was performed in combination with a supraclavicular brachial plexus block. None of the patients required local anesthetic supplementation intraoperatively.
Conclusions
The A-SAP block reliably and safely anesthetized the ICBN for UA-AVF creation surgery and is a reliable alternative to higher-risk block techniques, such as paravertebral block or neuraxial block.
6.Axillary serratus anterior plane block as a novel approach to anesthetizing the intercostobrachial nerve for upper arm arteriovenous fistula creation surgery -three case reports-
Chi Ho CHAN ; Jia Yin LIM ; Abey M.V. MATHEWS
Korean Journal of Anesthesiology 2025;78(3):279-284
Background:
Current regional anesthesia techniques used to anesthetize the intercostobrachial nerve (ICBN) for upper arm surgery either lack reliability or have increased procedural risks. Safer and more reliable regional anesthetic techniques are required to block the ICBN effectively. Here, we introduce a novel “axillary serratus anterior plane (A-SAP) block” for anesthetizing the ICBN to allow surgical anesthesia for upper arm arteriovenous fistula (UA-AVF) creation. Case: We present 3 cases involving a 79-year-old Chinese male, a 73-year-old Malay female, and a 38-year-old Chinese male, in which the A-SAP block was utilized in UA-AVF creation surgeries. In all 3 cases, the A-SAP block was performed in combination with a supraclavicular brachial plexus block. None of the patients required local anesthetic supplementation intraoperatively.
Conclusions
The A-SAP block reliably and safely anesthetized the ICBN for UA-AVF creation surgery and is a reliable alternative to higher-risk block techniques, such as paravertebral block or neuraxial block.
7.Current trends in intraoperative neurophysiological monitoring among Asia–Pacific countries: an Asia–Pacific Spine Society survey
Hideki SHIGEMATSU ; Akimasa YASUDA ; Ronald TANGENTE ; Chris Yin Wei CHAN ; Ajoy Prasad SHETTY ; Jason Pui Yin CHEUNG ; Yong HAI ; Daisuke SAKAI ; Kyu-Jung CHO ; Chih-Wei CHEN ; Gabriel LIU ; I Gusti Lanang Ngurah Agung Artha WIGUNA ; Brian HSU ; Mun Keong KWAN
Asian Spine Journal 2024;18(6):813-821
Methods:
Spine surgeons of the Asia–Pacific Spine Society were asked to respond to a web-based survey on IONM. The questionnaire covered various aspects of IONM, including its common modality, Tc-MEP details, necessities for consistent use, and recommended modalities in major spine surgeries and representative surgical procedures.
Results:
Responses were received from 193 of 626 spine surgeons. Among these respondents, 177 used IONM routinely. Among these 177 respondents, 17 mainly used SEP, whereas the majority favored Tc-MEPs. Although a >50% decrease is the commonly used alarm point in Tc-MEP, half of the Tc-MEP users had no protocols planned for such scenarios. Moreover, half of the Tc-MEP users experienced complications, with bite injuries being the most common. Most respondents strongly recommended IONM in deformity surgery for pediatric and adult populations and tumor resection surgery for intramedullary spinal cord tumors. Conversely, IONM was the least recommended in lumbar spinal canal stenosis surgery.
Conclusions
Spine surgeons in Asia–Pacific countries favored IONM use, indicating widespread routine utilization. Tc-MEP was the predominant modality for IONM, followed by SEPs.
8.Current trends in intraoperative neurophysiological monitoring among Asia–Pacific countries: an Asia–Pacific Spine Society survey
Hideki SHIGEMATSU ; Akimasa YASUDA ; Ronald TANGENTE ; Chris Yin Wei CHAN ; Ajoy Prasad SHETTY ; Jason Pui Yin CHEUNG ; Yong HAI ; Daisuke SAKAI ; Kyu-Jung CHO ; Chih-Wei CHEN ; Gabriel LIU ; I Gusti Lanang Ngurah Agung Artha WIGUNA ; Brian HSU ; Mun Keong KWAN
Asian Spine Journal 2024;18(6):813-821
Methods:
Spine surgeons of the Asia–Pacific Spine Society were asked to respond to a web-based survey on IONM. The questionnaire covered various aspects of IONM, including its common modality, Tc-MEP details, necessities for consistent use, and recommended modalities in major spine surgeries and representative surgical procedures.
Results:
Responses were received from 193 of 626 spine surgeons. Among these respondents, 177 used IONM routinely. Among these 177 respondents, 17 mainly used SEP, whereas the majority favored Tc-MEPs. Although a >50% decrease is the commonly used alarm point in Tc-MEP, half of the Tc-MEP users had no protocols planned for such scenarios. Moreover, half of the Tc-MEP users experienced complications, with bite injuries being the most common. Most respondents strongly recommended IONM in deformity surgery for pediatric and adult populations and tumor resection surgery for intramedullary spinal cord tumors. Conversely, IONM was the least recommended in lumbar spinal canal stenosis surgery.
Conclusions
Spine surgeons in Asia–Pacific countries favored IONM use, indicating widespread routine utilization. Tc-MEP was the predominant modality for IONM, followed by SEPs.
9.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
10.Genomics-driven derivatization of the bioactive fungal sesterterpenoid variecolin: Creation of an unnatural analogue with improved anticancer properties.
Dexiu YAN ; Jemma ARAKELYAN ; Teng WAN ; Ritvik RAINA ; Tsz Ki CHAN ; Dohyun AHN ; Vladimir KUSHNAREV ; Tsz Kiu CHEUNG ; Ho Ching CHAN ; Inseo CHOI ; Pui Yi HO ; Feijun HU ; Yujeong KIM ; Hill Lam LAU ; Ying Lo LAW ; Chi Seng LEUNG ; Chun Yin TONG ; Kai Kap WONG ; Wing Lam YIM ; Nikolay S KARNAUKHOV ; Richard Y C KONG ; Maria V BABAK ; Yudai MATSUDA
Acta Pharmaceutica Sinica B 2024;14(1):421-432
A biosynthetic gene cluster for the bioactive fungal sesterterpenoids variecolin ( 1) and variecolactone ( 2) was identified in Aspergillus aculeatus ATCC 16872. Heterologous production of 1 and 2 was achieved in Aspergillus oryzae by expressing the sesterterpene synthase VrcA and the cytochrome P450 VrcB. Intriguingly, the replacement of VrcB with homologous P450s from other fungal terpenoid pathways yielded three new variecolin analogues ( 5- 7). Analysis of the compounds' anticancer activity in vitro and in vivo revealed that although 5 and 1 had comparable activities, 5 was associated with significantly reduced toxic side effects in cancer-bearing mice, indicating its potentially broader therapeutic window. Our study describes the first tests of variecolin and its analogues in animals and demonstrates the utility of synthetic biology for creating molecules with improved biological activities.

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