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.The Mechanisms of Quercetin in Improving Alzheimer’s Disease
Yu-Meng ZHANG ; Yu-Shan TIAN ; Jie LI ; Wen-Jun MU ; Chang-Feng YIN ; Huan CHEN ; Hong-Wei HOU
Progress in Biochemistry and Biophysics 2025;52(2):334-347
Alzheimer’s disease (AD) is a prevalent neurodegenerative condition characterized by progressive cognitive decline and memory loss. As the incidence of AD continues to rise annually, researchers have shown keen interest in the active components found in natural plants and their neuroprotective effects against AD. Quercetin, a flavonol widely present in fruits and vegetables, has multiple biological effects including anticancer, anti-inflammatory, and antioxidant. Oxidative stress plays a central role in the pathogenesis of AD, and the antioxidant properties of quercetin are essential for its neuroprotective function. Quercetin can modulate multiple signaling pathways related to AD, such as Nrf2-ARE, JNK, p38 MAPK, PON2, PI3K/Akt, and PKC, all of which are closely related to oxidative stress. Furthermore, quercetin is capable of inhibiting the aggregation of β‑amyloid protein (Aβ) and the phosphorylation of tau protein, as well as the activity of β‑secretase 1 and acetylcholinesterase, thus slowing down the progression of the disease.The review also provides insights into the pharmacokinetic properties of quercetin, including its absorption, metabolism, and excretion, as well as its bioavailability challenges and clinical applications. To improve the bioavailability and enhance the targeting of quercetin, the potential of quercetin nanomedicine delivery systems in the treatment of AD is also discussed. In summary, the multifaceted mechanisms of quercetin against AD provide a new perspective for drug development. However, translating these findings into clinical practice requires overcoming current limitations and ongoing research. In this way, its therapeutic potential in the treatment of AD can be fully utilized.
3.Textual Research on Key Information of Classic Formula Houpo Qiwutang and Its Ancient and Modern Applications
Jinlong ZHANG ; Wei CHEN ; Ruobing LI ; Baikun YIN ; Yaodong GU ; Jun LEI ; Xicheng JIANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):213-222
Houpo Qiwutang originated from the Synopsis of the Golden Chamber, and it consists of seven medicines: Magnoliae Officinalis Cortex, Rhei Radix et Rhizoma, Aurantii Fructus Immaturus, Cinnamomi Ramulus, Zingiberis Rhizoma Recens, Glycyrrhizae Radix et Rhizoma, and Jujubae Fructus. It is a basic formula for the treatment of abdominal fullness. Through the bibliometric method, the historical history, drug base, preparation and dosage, decoction method, and ancient and modern applications of Houpu Qiwu Tang were analyzed by means of textual research. The research finds that Houpu Qiwu Tang has been passed down through the generations in an orderly manner with fewer changes. The drug base of this formula is basically clear, and the base of Magnoliae Officinalis Cortex, Rhei Radix et Rhizoma, Cinnamomi Ramulus, Zingiberis Rhizoma Recens, and Jujubae Fructus is consistent with the 2020 edition of Chinese Pharmacopoeia. The mainstream base of Aurantii Fructus Immaturus is the dried young fruit of Citrus aurantium of Rutaceae family, and the historical mainstream base of Glycyrrhizae Radix et Rhizoma is the dried root of Glycyrrhiza uralensis of Leguminosae family. The modern dosage of this formula is 110.40 g of Magnoliae Officinalis Cortex, 41.40 g of Rhei Radix et Rhizoma, 69 g of Aurantii Fructus Immaturus, 27.60 g of Cinnamomi Ramulus, 69 g of Zingiberis Rhizoma Recens, 41.40 g of Glycyrrhizae Radix et Rhizoma, and 30 g of Jujubae Fructus. In addition, the decoction method is to add 2 000 mL of water with the above seven flavors of the medicine, boil it to 800 mL, and then take 160 mL in a warm state each time. The amount of the medicine taken for each time is 22.08 g of Magnoliae Officinalis Cortex, 8.28 g of Rhei Radix et Rhizoma, 13.80 g of Aurantii Fructus Immaturus, 5.52 g of Cinnamomi Ramulus, 13.80 g of Zingiberis Rhizoma Recens, 8.28 g of Glycyrrhizae Radix et Rhizoma, and 6 g of Jujubae Fructus. The modern application of this formula involves the digestive system, respiratory system, and urinary system. It is more advantageous in digestive system diseases such as early postoperative inflammatory bowel obstruction, functional dyspepsia, gastric pain, functional abdominal distension, and gastric reflux esophagitis. By comprehensively examining the key information of Houpu Qiwu Tang, this paper aims to provide literature support for the development and clinical application of this formula.
4.Neuroplasticity Mechanisms of Exercise-induced Brain Protection
Li-Juan HOU ; Lan-Qun MAO ; Wei CHEN ; Ke LI ; Xu-Dong ZHAO ; Yin-Hao WANG ; Zi-Zheng YANG ; Tian-He WEI
Progress in Biochemistry and Biophysics 2025;52(6):1435-1452
Neuroscience is a significant frontier discipline within the natural sciences and has become an important interdisciplinary frontier scientific field. Brain is one of the most complex organs in the human body, and its structural and functional analysis is considered the “ultimate frontier” of human self-awareness and exploration of nature. Driven by the strategic layout of “China Brain Project”, Chinese scientists have conducted systematic research focusing on “understanding the brain, simulating the brain, and protecting the brain”. They have made breakthrough progress in areas such as the principles of brain cognition, mechanisms and interventions for brain diseases, brain-like computation, and applications of brain-machine intelligence technology, aiming to enhance brain health through biomedical technology and improve the quality of human life. Due to limited understanding and comprehension of neuroscience, there are still many important unresolved issues in the field of neuroscience, resulting in a lack of effective measures to prevent and protect brain health. Therefore, in addition to actively developing new generation drugs, exploring non pharmacological treatment strategies with better health benefits and higher safety is particularly important. Epidemiological data shows that, exercise is not only an indispensable part of daily life but also an important non-pharmacological approach for protecting brain health and preventing neurodegenerative diseases, forming an emerging research field known as motor neuroscience. Basic research in motor neuroscience primarily focuses on analyzing the dynamic coding mechanisms of neural circuits involved in motor control, breakthroughs in motor neuroscience research depend on the construction of dynamic monitoring systems across temporal and spatial scales. Therefore, high spatiotemporal resolution detection of movement processes and movement-induced changes in brain structure and neural activity signals is an important technical foundation for conducting motor neuroscience research and has developed a set of tools based on traditional neuroscience methods combined with novel motor behavior decoding technologies, providing an innovative technical platform for motor neuroscience research. The protective effect of exercise in neurodegenerative diseases provides broad application prospects for its clinical translation. Applied research in motor neuroscience centers on deciphering the regulatory networks of neuroprotective molecules mediated by exercise. From the perspectives of exercise promoting neurogenesis and regeneration, enhancing synaptic plasticity, modulating neuronal functional activity, and remodeling the molecular homeostasis of the neuronal microenvironment, it aims to improve cognitive function and reduce the incidence of Parkinson’s disease and Alzheimer’s disease. This has also advanced research into the molecular regulatory networks mediating exercise-induced neuroprotection and facilitated the clinical application and promotion of exercise rehabilitation strategies. Multidimensional analysis of exercise-regulated neural plasticity is the theoretical basis for elucidating the brain-protective mechanisms mediated by exercise and developing intervention strategies for neurological diseases. Thus,real-time analysis of different neural signals during active exercise is needed to study the health effects of exercise throughout the entire life cycle and enhance lifelong sports awareness. Therefore, this article will systematically summarize the innovative technological developments in motor neuroscience research, review the mechanisms of neural plasticity that exercise utilizes to protect the brain, and explore the role of exercise in the prevention and treatment of major neurodegenerative diseases. This aims to provide new ideas for future theoretical innovations and clinical applications in the field of exercise-induced brain protection.
5.A novel intracoronary hypothermia device reduces myocardial reperfusion injury in pigs
Zhiqiang PEI ; Jin QIU ; Yongchao ZHAO ; Shuai SONG ; Rui WANG ; Wei LUO ; Xingxing CAI ; Bin LIU ; Han CHEN ; Jiasheng YIN ; Xinyu WENG ; Yizhe WU ; Chenguang LI ; Li SHEN ; Junbo GE
Chinese Medical Journal 2024;137(20):2461-2472
Background::Hypothermia therapy has been suggested to attenuate myocardial necrosis; however, the clinical implementation as a valid therapeutic strategy has failed, and new approaches are needed to translate into clinical applications. This study aimed to assess the feasibility, safety, and efficacy of a novel selective intracoronary hypothermia (SICH) device in mitigating myocardial reperfusion injury.Methods::This study comprised two phases. The first phase of the SICH was performed in a normal porcine model for 30 minutes ( n = 5) to evaluate its feasibility. The second phase was conducted in a porcine myocardial infarction (MI) model of myocardial ischemia/reperfusion which was performed by balloon occlusion of the left anterior descending coronary artery for 60 minutes and maintained for 42 days. Pigs in the hypothermia group ( n = 8) received hypothermia intervention onset reperfusion for 30 minutes and controls ( n = 8) received no intervention. All animals were followed for 42 days. Cardiac magnetic resonance analysis (five and 42 days post-MI) and a series of biomarkers/histological studies were performed. Results::The average time to lower temperatures to a steady state was 4.8 ± 0.8 s. SICH had no impact on blood pressure or heart rate and was safely performed without complications by using a 3.9 F catheter. Interleukin-6 (IL-6), tumor necrosis factor-α, C-reactive protein (CRP), and brain natriuretic peptide (BNP) were lower at 60 min post perfusion in pigs that underwent SICH as compared with the control group. On day 5 post MI/R, edema, intramyocardial hemorrhage, and microvascular obstruction were reduced in the hypothermia group. On day 42 post MI/R, the infarct size, IL-6, CRP, BNP, and matrix metalloproteinase-9 were reduced, and the ejection fraction was improved in pigs that underwent SICH.Conclusions::The SICH device safely and effectively reduced the infarct size and improved heart function in a pig model of MI/R. These beneficial effects indicate the clinical potential of SICH for treatment of myocardial reperfusion injury.
6.Construction and stability analysis of finite element model for spinal canal reconstruction with miniplates fixation
Jian-Min CHEN ; Guo-Yin LIU ; Wei-Qian HUANG ; Zhong-Hua LIAN ; Er-Lai ZHANG ; Jian-Ning ZHAO
China Journal of Orthopaedics and Traumatology 2024;37(3):271-277
Objective To establish the finite element model of spinal canal reconstruction and internal fixation,analysis influence of spinal canal reconstruction and internal fixation on spinal stability,and verify the effectiveness and reliability of spinal canal reconstruction and internal fixation in spinal canal surgery.Methods A 30-year-old male healthy volunteer with a height of 172 cm and weight of 75 kg was selected and his lumbar CT data were collected to establish a finite element model of normal lumbar Lo3-L,and the results were compared with in vitro solid results and published finite element analysis results to verify the validity of the model.They were divided into normal group,laminectomy group and spinal canal reconstruction group according to different treatment methods.Under the same boundary fixation and physiological load conditions,six kinds of ac-tivities were performed,including forward bending,backward extension,left bending,right bending,left rotation and right rota-tion,and the changes of range of motion(ROM)of L3-L4,L4-L5 segments and overall maximum ROM of L3-L5 were analyzed under the six conditions.Results The ROM displacement range of each segment of the constructed L3-L5 finite element model was consistent with the in vitro solid results and previous literature data,which confirms the validity of the model.In L3-L4,ROM of spinal canal reconstruction group was slightly increased than that of normal group during posterior extension(>5%dif-ference),and ROM of other conditions was similar to that of normal group(<5%difference).ROM in laminectomy group was significantly increase than that in normal group and spinal canal reconstruction group under the condition of flexion,extension,left and right rotation.In L4-L5,ROM in spinal canal reconstruction group was similar to that in normal group(<5%differ-ence),while ROM in laminectomy group was significantly higher than that in normal group and spinal canal reconstruction group(>5%difference).In the overall maximum ROM of L3-L5,spinal canal reconstruction group was only slightly higher than normal group under the condition of posterior extension(>5%difference),while laminectomy was significantly higher than normal group and spinal canal reconstruction group under the condition of anterior flexion,posterior extension,left and right rotation(>5%difference).The changes of each segment ROM and overall ROM of L3-L5 showed laminectomy group>spinal canal reconstruction group>normal group.Conclusion Laminectomy could seriously affect biomechanical stability of the spine,but application of spinal canal reconstruction and internal fixation could effectively reduce ROM displacement of the responsi-ble segment of spine and maintain its biomechanical stability.
7.Application of arthroscopic three-approach combined with elliptical tunnel technique in anterior cruciate ligament reconstruction
Yin-Hua MA ; Xiao-Yan CHEN ; Hong-Wei TANG
Journal of Regional Anatomy and Operative Surgery 2024;33(11):999-1003
Objective To investigate the application value of arthroscopic three-approach combined with elliptical tunnel technique in anterior cruciate ligament(ACL)reconstruction.Methods A prospective analysis was conducted on 104 patients with ACL injury admitted to our hospital.They were randomly divided into the observation group and the control group according to a random number table method,with 52 cases in each group.All patients in both groups underwent ACL reconstruction.The patients in the observation group were treated with the arthroscopic three-approach combined with elliptical tunnel technique,while the patients in the control group were treated with the traditional anteromedial approach and elliptical tunnel technique.The surgical related indicators,parameters of postoperative bone tunnel positioning,postoperative graft maturation,knee stability(Lachman test),Lysholm score of knee function,and complications of patients were compared between the two groups.Results The time of getting out of bed with crutches,time of walking without crutches and recovery time of patients in the observation group were shorter than those in the control group(P<0.05).The A/B value of patients in the observation group was greater than that in the control group,and the a/c and α were smaller than those in the control group(P<0.05).The signal/noise quotient(SNQ)of the proximal,middle,and distal grafts 6 and 12 months after surgery of patients in the observation group were lower than those in the control group(P<0.05).At 6 months postoperatively,the knee stability of patients in the observation group was better than that in the control group,and the Lysholm score of knee function was higher than that in the control group(P<0.05).There was no significant difference in the incidence of postoperative complications between the two groups(P>0.05).Conclusion Arthroscopic three-approach combined with elliptical tunnel technique can improve the morphology of bone tunnel,promote graft maturation,shorten postoperative recovery process,and improve knee function in ACL reconstruction,with high safety.
8.Results of one-year blood pressure follow-up after proximal and total renal artery denervation
Yi-Wen REN ; Hao ZHOU ; Wei-Jie CHEN ; Hua-An DU ; Bo ZHANG ; Dan LI ; Ming-Yang XIAO ; Zi-Hao WANG ; Zhi-Yu LING ; Yue-Hui YIN
Chinese Journal of Interventional Cardiology 2024;32(6):305-310
Objective To compare the efficacy of renal proximal renal artery denervation(pRDN)and full-length renal artery denervation(fRDN)for treatment of hypertension.Methods Fifty-six hypertensive patients were enrolled and randomly assigned to full-length renal artery denervation group(n=25)and proximal renal artery denervation group(n=31).After the procedure,24-hour ambulatory blood pressure monitoring(24 h-ABPM)at 6 months and office blood pressure at 12 months was recorded for statistical analysis.Results The blood pressure at follow-up reduced significantly in both groups,while there was no significant difference between groups.The baseline office blood pressure in fRDN group and pRDN group was(180±15)/(104±10)mmHg and(180±12)/(103±8)mmHg,respectively,which decreased to(142±9)/(82±7)mmHg and(143±10)/(83±6)mmHg at 12 months postoperatively(P<0.001 within groups and P>0.05 between groups).The baseline 24 h-ABPM in the two groups was(162±13)/(95±8)mmHg and(160±12)/(94±8)mmHg,respectively,which decreased to(142±11)/(83±7)mmHg and(141±8)/(81±7)mmHg at 6 months postoperatively(P<0.001 within groups and P>0.05 between groups).However,there was no significant difference in the reduction of office blood pressure and ambulatory blood pressure between the two groups.No treatment-related adverse events were observed.Conclusions pRDN has similar antihypertensive effect to fRDN.
9.Research progress in sialic acid-binding immunoglobulin-like lectins in bacterial infectious diseases
Yue-Yue HE ; Yue-Jie ZHU ; Yi-Chen FAN ; Zheng-Wei YIN ; Juan SHI ; Feng-Bo ZHANG ; Jian-Bing DING
Chinese Journal of Zoonoses 2024;40(8):790-795
Sialic acid-binding immunoglobulin-like lectins(Siglecs)are expressed on most white blood cells and play a key role in signal transduction of immune cells.Recent studies have shown that many bacterial pathogens regulate the host immune response through the interaction between sialic acid(Sia)and Siglecs,thereby influencing the occurrence and development of diseases.Understanding bacterial pathogenic mechanisms is essential to identify potential effective therapeutic targets and help manage bacterial infectious diseases.Herein,the structure,biological function,and research progress in Siglecs in bacterial in-fectious diseases are briefly reviewed.
10.Predicting Neck Dysfunction After Open-Door Cervical Laminoplasty — A Prospective Cohort Patient-Reported Outcome Measurement Study
Chiu-Hao HSU ; Wei-Wei CHEN ; Meng-Yin HO ; Chin-Chieh WU ; Dar-Ming LAI
Neurospine 2024;21(4):1053-1065
Objective:
To analyze the predictive factors for neck pain and cervical spine function after laminoplasty for degenerative cervical myelopathy (DCM) using K-means for longitudinal data (KML).
Methods:
In this prospective cohort study, we collected clinical and radiographic data from patients with DCM who underwent cervical laminoplasty. A novel index of surgical outcome, “neck function,” which comprises neck pain and cervical spine function according to the Japanese Orthopedic Association Cervical Myelopathy Evaluation Questionnaire, was proposed. We treated surgical outcomes as longitudinal rather than cross-sectional data and used KML for analysis. Patients were categorized as having good or poor outcomes based on the KML graph of neck pain and cervical spine function.
Results:
From 2016 to 2020, 104 patients underwent laminoplasty for DCM; however, 35 patients were excluded because of loss to follow-up or incomplete data. The authors found that central canal stenosis (odds ratio [OR], 17.93; 95% confidence interval [CI], 1.26–254.73; p=0.03) and preoperative neck pain (OR per 1 point increase=1.49; 95% CI, 1.12–1.99; p=0.006) were 2 negative predictive factors and that a positive K-line during flexion was a positive predictive factor (OR, 0.11; 95% CI, 0.01–0.87; p=0.036) for neck function after laminoplasty.
Conclusion
Central canal stenosis, preoperative neck pain and a K-line during flexion were found to be predictive of postoperative neck pain and cervical spine function after laminoplasty. To achieve better surgical outcomes for neck function, the authors suggest the utilization of these determinants as a guiding framework for the selection of surgical approaches for DCM.

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