1.GBA1 Thr408Met mutation in a patient with Parkinson’s disease
Yi ZHAO ; Junwen LI ; Chunlian JU ; Weibin QIU ; Bo ZUO ; Zhigang YANG ; Yansheng LI
Chinese Journal of Clinical Medicine 2025;32(3):524-528
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.
2.Effect of autologous osteochondral tissue and periosteum transplantation on tendon-bone healing of rotator cuff in rabbits.
Sen FANG ; Mingtao ZHANG ; Xudong YANG ; Cairang DAOJI ; Mingchun LI ; Zhixuan NIAN ; Junwen LIANG ; Xiangdong YUN
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(2):187-192
OBJECTIVE:
To investigate the effect of autologous osteochondral tissue and periosteum transplantation on tendon-bone healing of rotator cuff in rabbits.
METHODS:
Twenty-four male New Zealand white rabbits were randomly divided into autologous osteochondral tissue and periosteum transplantation group (experimental group, n=12) and simple suture group (control group, n=12). Both groups were subjected to acute supraspinatus tendon injury and repaired with corresponding techniques. At 4, 8, and 12 weeks after operation, 4 specimens from each group were taken from the right shoulder joint for histological examination (HE staining, Masson staining, and Safranin O-fast green staining), and the left shoulder was subjected to biomechanical tests (maximum tensile load and stiffness).
RESULTS:
Both groups of animals survived until the completion of the experiment after operation. At 4 weeks after operation, both groups showed less collagen fibers and disorder at the tendon-bone junction. At 8 weeks, both groups showed reduced inflammation at the tendon-bone junction, with more organized and denser collagen fibers and chondrocytes. The experimental group showed better results than the control group. At 12 weeks, the experimental group showed typical tendon-bone transition structure, with increased generation of collagen fibers and chondrocytes, and the larger cartilage staining area. Both groups showed an increase in maximum tensile load and stiffness over time ( P<0.05). The stiffness at 4 weeks and the maximum tensile load at 4, 8, and 12 weeks in the experimental group were superior to control group, and the differences were significant ( P<0.05). There was no significant difference in stiffness at 8, 12 weeks between the two groups ( P>0.05).
CONCLUSION
Autologous osteochondral tissue and periosteum transplantation can effectively promote the fiber and cartilage regeneration at the tendon-bone junction of rotator cuff and improve the biomechanical effect of shoulder joint in rabbits.
Animals
;
Rabbits
;
Male
;
Wound Healing
;
Transplantation, Autologous
;
Periosteum/transplantation*
;
Rotator Cuff Injuries
;
Rotator Cuff/surgery*
;
Tendons/surgery*
;
Biomechanical Phenomena
;
Chondrocytes/transplantation*
;
Tendon Injuries/surgery*
;
Tensile Strength
3.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
4.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
5.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
6.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
7.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
8.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
9.Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome (version 2024)
Junyu WANG ; Hai JIN ; Danfeng ZHANG ; Rutong YU ; Mingkun YU ; Yijie MA ; Yue MA ; Ning WANG ; Chunhong WANG ; Chunhui WANG ; Qing WANG ; Xinyu WANG ; Xinjun WANG ; Hengli TIAN ; Xinhua TIAN ; Yijun BAO ; Hua FENG ; Wa DA ; Liquan LYU ; Haijun REN ; Jinfang LIU ; Guodong LIU ; Chunhui LIU ; Junwen GUAN ; Rongcai JIANG ; Yiming LI ; Lihong LI ; Zhenxing LI ; Jinglian LI ; Jun YANG ; Chaohua YANG ; Xiao BU ; Xuehai WU ; Li BIE ; Binghui QIU ; Yongming ZHANG ; Qingjiu ZHANG ; Bo ZHANG ; Xiangtong ZHANG ; Rongbin CHEN ; Chao LIN ; Hu JIN ; Weiming ZHENG ; Mingliang ZHAO ; Liang ZHAO ; Rong HU ; Jixin DUAN ; Jiemin YAO ; Hechun XIA ; Ye GU ; Tao QIAN ; Suokai QIAN ; Tao XU ; Guoyi GAO ; Xiaoping TANG ; Qibing HUANG ; Rong FU ; Jun KANG ; Guobiao LIANG ; Kaiwei HAN ; Zhenmin HAN ; Shuo HAN ; Jun PU ; Lijun HENG ; Junji WEI ; Lijun HOU
Chinese Journal of Trauma 2024;40(5):385-396
Traumatic supraorbital fissure syndrome (TSOFS) is a symptom complex caused by nerve entrapment in the supraorbital fissure after skull base trauma. If the compressed cranial nerve in the supraorbital fissure is not decompressed surgically, ptosis, diplopia and eye movement disorder may exist for a long time and seriously affect the patients′ quality of life. Since its overall incidence is not high, it is not familiarized with the majority of neurosurgeons and some TSOFS may be complicated with skull base vascular injury. If the supraorbital fissure surgery is performed without treatment of vascular injury, it may cause massive hemorrhage, and disability and even life-threatening in severe cases. At present, there is no consensus or guideline on the diagnosis and treatment of TSOFS that can be referred to both domestically and internationally. To improve the understanding of TSOFS among clinical physicians and establish standardized diagnosis and treatment plans, the Skull Base Trauma Group of the Neurorepair Professional Committee of the Chinese Medical Doctor Association, Neurotrauma Group of the Neurosurgery Branch of the Chinese Medical Association, Neurotrauma Group of the Traumatology Branch of the Chinese Medical Association, and Editorial Committee of Chinese Journal of Trauma organized relevant experts to formulate Chinese expert consensus on the diagnosis and treatment of traumatic supraorbital fissure syndrome ( version 2024) based on evidence of evidence-based medicine and clinical experience of diagnosis and treatment. This consensus puts forward 12 recommendations on the diagnosis, classification, treatment, efficacy evaluation and follow-up of TSOFS, aiming to provide references for neurosurgeons from hospitals of all levels to standardize the diagnosis and treatment of TSOFS.
10.Research progress on influencing factors and intervention strategies for family readiness for discharge of premature infants in NICU
Ping WEN ; Yuxi ZHAO ; Xiaoqing REN ; Yanzhi NIU ; Yongjiao KANG ; Junwen YANG ; Xiaoxi LI
Chinese Journal of Modern Nursing 2024;30(9):1256-1260
The family readiness for discharge of premature infants in the Neonatal Intensive Care Unit (NICU) is an important index to evaluate the safe discharge of premature infants, and a good family discharge readiness is the basic guarantee for the smooth recovery and healthy growth of premature infants. This article summarizes the concept, influencing factors, and intervention strategies of family discharge readiness for premature infants in NICU, in order to provide reference for the formulation and improvement of discharge readiness measures for premature infants in NICU.

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