1.Clinical and genetic characteristics of children with neurodevelopmental disorder caused by MAPK8IP3 gene variations and literature review
Yanhong WANG ; Huichun ZHANG ; Yang GU ; Xuan ZHENG ; Xiaoman ZHANG ; Chao GAO ; Shiyue MEI ; Yaodong ZHANG
Chinese Journal of Neurology 2025;58(8):862-868
Objective:To summarize the clinical and genetic characteristics of patients with neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) caused by MAPK8IP3 gene variation. Methods:The clinical data and genetic testing results of 2 children with NEDBA treated in Henan Children′s Hospital from August 2019 to January 2022 were collected retrospectively. Literature was searched and reviewed from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed database and OMIM database (up to October 2024) with" MAPK8IP3 gene ""NEDBA ""neurodevelopmental disorders "as the search terms. The main clinical genetic characteristics of NEDBA caused by MAPK8IP3 gene variation were summarized. Results:The 2 children, a boy aged 1 year and 8 months and a girl aged 1 year and 4 months, both showed global developmental delay and the onset of the disease in infancy. The de novo heterozygous mutation c.1732C>T(p.Arg578Cys) of the MAPK8IP3 gene was detected by whole-exome sequencing. Case 1 was followed up to 3 years and 10 months old, who had severe developmental delay and was accompanied by hip subluxation and strephexopodia. Literature search retrieved 0 Chinese literature and 2 English literatures. A total of 18 patients including 2 cases reported in this study were identified as NEDBA caused by MAPK8IP3 gene variations, including 16 cases with missense mutations and 2 cases with truncation mutations. Among them, 7 patients carried c.1732C>T(p.Arg578Cys) and 5 patients carried c.3436C>T(p.Arg1146Cys). The main clinical manifestations of the 18 patients included developmental delay/intellectual disability (18 cases), poor or absent speech (11 cases), abnormal neurological examination (10 cases: 6 with spastic paraplegia, 2 with spasticity, 2 with ataxia, 1 with unstable gait), hypotonia (10 cases), skeletal malformations (10 cases: 4 with short stature, 3 with scoliosis, 1 with 5th finger clinodactyly and brachydactylky, 1 with flat-valgus feet, 1 with hip subluxation), seizures (3 cases), left hearing loss (1 case), myopic astigmatism and pseudostrabismus (1 case), abnormal brain magnetic resonance imaging (15 cases). Conclusions:Patients with NEDBA is usually characterized by global developmental delay apparent from infancy or early childhood, resulting in language and motor disorders. Additional features may include hypotonia, spasticity, skeletal malformations and abnormal brain magnetic resonance imaging. Currently, missense variations are frequent among the heterozygous MAPK8IP3 genotypes, among which c.1732C>T(p.Arg578Cys) and c.3436C>T(p.Arg1146Cys) are considered hot spot variations.
2.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.
3.Effects of Plantar Fascia Stiffness on Windlass Mechanism:A Finite Elment Analysis
Qiaolin ZHANG ; Dong SUN ; Yang SONG ; Hairong CHEN ; Xuanzhen CEN ; István BÍRÓ ; Yaodong GU
Journal of Medical Biomechanics 2025;40(1):93-99,112
Objective To explore the relationship between plantar fascia stiffness and windlass mechanism and their impact on the arch,and provide a biomechanical mechanism explanation for plantar fascia and arch-related diseases.Methods A foot-plate model with 30° flexion angle at the metatarsophalangeal joint was constructed.The musculoskeletal model combined with the three-dimensional finite element analysis method was used,and the dynamic data of the foot during walking at the speed of 5 km/h was obtained using dual fluoroscopic imaging system(DFIS).The finite element model was verified,and the influence of plantar fascia stiffness on the capstan mechanism and arch-related mechanical parameters was explored.Results The finite element simulation analysis results were highly consistent with the foot data obtained by DFIS,confirming the validity of the model.With the increase of plantar fascia stiffness,the windlass effect and the stiffness of the longitudinal arch of the foot both showed an increasing trend,but the flexion angle of the metatarsophalangeal joint decreased,the distal stress of the plantar fascia gradually decreased,and the proximal stress increased;when the plantar fascia stiffness was 25%-150%,the width of the transverse arch of the foot increased with the increase of plantar fascia stiffness,while the height of the transverse arch decreased with the increase of plantar fascia stiffness;when the plantar fascia stiffness was 150%-200%,the width of the transverse arch of the foot decreased,the height increased,and the stiffness also increased.Conclusions An increase in plantar fascia stiffness can enhance the windlass mechanism to some extent,but it also leads to a reduction in metatarsophalangeal joint flexion.The stiffness of the plantar fascia affects the metatarsophalangeal joint flexion,thereby impacting the windlass mechanism and the distal tensile force of the plantar fascia.Together with the ground reaction force at the distal end of the metatarsals,these factors collectively influence the stiffness of the transverse arch of the foot.
4.Application of Multi-Segmental Foot Modeling in Evaluation of Foot Torsion and Footwear Torsion:A Review
Yile WANG ; Yuming WANG ; Jia ZHAO ; Fan YANG ; Qichang MEI ; Yaodong GU
Journal of Medical Biomechanics 2025;40(3):768-775
Foot torsion stiffness refers to the foot's ability to resist deformation when subjected to torsional forces,and such characteristics play a crucial role in the prevention of sports injuries and design of athletic footwear.This review systematically summarizes the biomechanical research progress of foot torsion and shoe torsion,as well as the research and application of multi-segment foot models in foot-shoe torsion.The findings indicate that foot torsional stiffness significantly impacts lower limb kinematics,kinetics,and athletic performance.Optimizing this stiffness can improve stress distribution,reduce injury risk,and enhance performance.The future researches should focus on refining measurement techniques to enhance reliability and efficiency in clinical applications,providing a scientific foundation for sports injury prevention and footwear design.
5.Application of Statistical Shape Modelling in Pelvic Morphology and Biomechanical Functions
Chen LIU ; Liu XU ; Justin FERNANDEZ ; Qichang MEI ; Yaodong GU
Journal of Medical Biomechanics 2025;40(4):1061-1068
The pelvis,as a critical structure connecting the spine and lower limbs,not only supports the upper body but also plays a vital role in lower limb movement and force transmission.Its complex morphology and functionality have long been a focus of research.However,the significant individual variations in pelvic morphology present challenges in studying the relationship between shape and function.Statistical shape model(SSM),as an effective method for quantifying and describing morphological variations,has become a key tool in exploring the morphology-function relationship of the pelvis.This review summarizes recent advances in the application of SSM to the study of pelvic morphology and biomechanics,highlighting its role in uncovering morphological features and their impacts on biomechanics,and discusses future development directions.Through a comprehensive analysis of existing literature,this study aims to provide valuable insights and guidance for clinicians,biomechanics researchers,and medical device designers.
6.Application of Statistical Shape Modelling in Pelvic Morphology and Biomechanical Functions
Chen LIU ; Liu XU ; Justin FERNANDEZ ; Qichang MEI ; Yaodong GU
Journal of Medical Biomechanics 2025;40(4):1061-1068
The pelvis,as a critical structure connecting the spine and lower limbs,not only supports the upper body but also plays a vital role in lower limb movement and force transmission.Its complex morphology and functionality have long been a focus of research.However,the significant individual variations in pelvic morphology present challenges in studying the relationship between shape and function.Statistical shape model(SSM),as an effective method for quantifying and describing morphological variations,has become a key tool in exploring the morphology-function relationship of the pelvis.This review summarizes recent advances in the application of SSM to the study of pelvic morphology and biomechanics,highlighting its role in uncovering morphological features and their impacts on biomechanics,and discusses future development directions.Through a comprehensive analysis of existing literature,this study aims to provide valuable insights and guidance for clinicians,biomechanics researchers,and medical device designers.
7.Effects of Plantar Fascia Stiffness on Windlass Mechanism:A Finite Elment Analysis
Qiaolin ZHANG ; Dong SUN ; Yang SONG ; Hairong CHEN ; Xuanzhen CEN ; István BÍRÓ ; Yaodong GU
Journal of Medical Biomechanics 2025;40(1):93-99,112
Objective To explore the relationship between plantar fascia stiffness and windlass mechanism and their impact on the arch,and provide a biomechanical mechanism explanation for plantar fascia and arch-related diseases.Methods A foot-plate model with 30° flexion angle at the metatarsophalangeal joint was constructed.The musculoskeletal model combined with the three-dimensional finite element analysis method was used,and the dynamic data of the foot during walking at the speed of 5 km/h was obtained using dual fluoroscopic imaging system(DFIS).The finite element model was verified,and the influence of plantar fascia stiffness on the capstan mechanism and arch-related mechanical parameters was explored.Results The finite element simulation analysis results were highly consistent with the foot data obtained by DFIS,confirming the validity of the model.With the increase of plantar fascia stiffness,the windlass effect and the stiffness of the longitudinal arch of the foot both showed an increasing trend,but the flexion angle of the metatarsophalangeal joint decreased,the distal stress of the plantar fascia gradually decreased,and the proximal stress increased;when the plantar fascia stiffness was 25%-150%,the width of the transverse arch of the foot increased with the increase of plantar fascia stiffness,while the height of the transverse arch decreased with the increase of plantar fascia stiffness;when the plantar fascia stiffness was 150%-200%,the width of the transverse arch of the foot decreased,the height increased,and the stiffness also increased.Conclusions An increase in plantar fascia stiffness can enhance the windlass mechanism to some extent,but it also leads to a reduction in metatarsophalangeal joint flexion.The stiffness of the plantar fascia affects the metatarsophalangeal joint flexion,thereby impacting the windlass mechanism and the distal tensile force of the plantar fascia.Together with the ground reaction force at the distal end of the metatarsals,these factors collectively influence the stiffness of the transverse arch of the foot.
8.Application of Multi-Segmental Foot Modeling in Evaluation of Foot Torsion and Footwear Torsion:A Review
Yile WANG ; Yuming WANG ; Jia ZHAO ; Fan YANG ; Qichang MEI ; Yaodong GU
Journal of Medical Biomechanics 2025;40(3):768-775
Foot torsion stiffness refers to the foot's ability to resist deformation when subjected to torsional forces,and such characteristics play a crucial role in the prevention of sports injuries and design of athletic footwear.This review systematically summarizes the biomechanical research progress of foot torsion and shoe torsion,as well as the research and application of multi-segment foot models in foot-shoe torsion.The findings indicate that foot torsional stiffness significantly impacts lower limb kinematics,kinetics,and athletic performance.Optimizing this stiffness can improve stress distribution,reduce injury risk,and enhance performance.The future researches should focus on refining measurement techniques to enhance reliability and efficiency in clinical applications,providing a scientific foundation for sports injury prevention and footwear design.
9.Clinical and genetic characteristics of children with neurodevelopmental disorder caused by MAPK8IP3 gene variations and literature review
Yanhong WANG ; Huichun ZHANG ; Yang GU ; Xuan ZHENG ; Xiaoman ZHANG ; Chao GAO ; Shiyue MEI ; Yaodong ZHANG
Chinese Journal of Neurology 2025;58(8):862-868
Objective:To summarize the clinical and genetic characteristics of patients with neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) caused by MAPK8IP3 gene variation. Methods:The clinical data and genetic testing results of 2 children with NEDBA treated in Henan Children′s Hospital from August 2019 to January 2022 were collected retrospectively. Literature was searched and reviewed from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed database and OMIM database (up to October 2024) with" MAPK8IP3 gene ""NEDBA ""neurodevelopmental disorders "as the search terms. The main clinical genetic characteristics of NEDBA caused by MAPK8IP3 gene variation were summarized. Results:The 2 children, a boy aged 1 year and 8 months and a girl aged 1 year and 4 months, both showed global developmental delay and the onset of the disease in infancy. The de novo heterozygous mutation c.1732C>T(p.Arg578Cys) of the MAPK8IP3 gene was detected by whole-exome sequencing. Case 1 was followed up to 3 years and 10 months old, who had severe developmental delay and was accompanied by hip subluxation and strephexopodia. Literature search retrieved 0 Chinese literature and 2 English literatures. A total of 18 patients including 2 cases reported in this study were identified as NEDBA caused by MAPK8IP3 gene variations, including 16 cases with missense mutations and 2 cases with truncation mutations. Among them, 7 patients carried c.1732C>T(p.Arg578Cys) and 5 patients carried c.3436C>T(p.Arg1146Cys). The main clinical manifestations of the 18 patients included developmental delay/intellectual disability (18 cases), poor or absent speech (11 cases), abnormal neurological examination (10 cases: 6 with spastic paraplegia, 2 with spasticity, 2 with ataxia, 1 with unstable gait), hypotonia (10 cases), skeletal malformations (10 cases: 4 with short stature, 3 with scoliosis, 1 with 5th finger clinodactyly and brachydactylky, 1 with flat-valgus feet, 1 with hip subluxation), seizures (3 cases), left hearing loss (1 case), myopic astigmatism and pseudostrabismus (1 case), abnormal brain magnetic resonance imaging (15 cases). Conclusions:Patients with NEDBA is usually characterized by global developmental delay apparent from infancy or early childhood, resulting in language and motor disorders. Additional features may include hypotonia, spasticity, skeletal malformations and abnormal brain magnetic resonance imaging. Currently, missense variations are frequent among the heterozygous MAPK8IP3 genotypes, among which c.1732C>T(p.Arg578Cys) and c.3436C>T(p.Arg1146Cys) are considered hot spot variations.
10.Research Progress of Competitive Swimming Sport Biomechanics During Paris Olympic Games Period
Yaodong GU ; Shun WANG ; Yining XU
Journal of Medical Biomechanics 2024;39(4):576-585
This review systematically polled the latest advancements in biomechanics research in competitive swimming during the Paris Olympic period together.By analyzing the application of biomechanics in competitive swimming,it reveals the key factors in performance improvement and injury prevention,mainly encompassing technique analysis and optimization,research method and equipment,performance evaluation and enhancement,and injury prevention and rehabilitation.Research related to biomechanics in competitive swimming for the Paris Olympic period highlights the significant role of biomechanics in optimizing swimming techniques,assessing athletic performance,and preventing injuries.Particularly,the advancement of sophisticated data collection and analysis equipment,such as high-precision sensors,artificial intelligence,and deep learning technologies,has made the analysis of swimming techniques more comprehensive and precise.Future research should further integrate multi-dimensional data technologies,employing high-precision motion capture,fluid mechanics measurement,and intelligent analysis to delve deeper into the pathways for optimizing swimming techniques.

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