1.Novel autosomal dominant syndromic hearing loss caused by COL4A2 -related basement membrane dysfunction of cochlear capillaries and microcirculation disturbance.
Jinyuan YANG ; Ying MA ; Xue GAO ; Shiwei QIU ; Xiaoge LI ; Weihao ZHAO ; Yijin CHEN ; Guojie DONG ; Rongfeng LIN ; Gege WEI ; Huiyi NIE ; Haifeng FENG ; Xiaoning GU ; Bo GAO ; Pu DAI ; Yongyi YUAN
Chinese Medical Journal 2025;138(15):1888-1890
2.Therapeutic effect of fecal microbiota transplantation for patients with refractory gout
Shuting HONG ; Jinyuan QIU ; Xiaoqing HUANG ; Jianyu LIN ; Yingjie CHEN ; Yongsong CHEN ; Yongru CHEN
Journal of Clinical Medicine in Practice 2025;29(9):50-54
Objective To explore the effects of fecal microbiota transplantation on blood uric acid(UA)metabolism,adverse reactions,and gout control in patients with refractory gout.Methods A total of 102 patients with refractory gout in the First Affiliated Hospital of Medical College of Shantou University from June 2020 to June 2023 were randomly divided into two groups,with 51 cases in each group.Control group received benzbromarone and febuxostat treatment,while the observation group re-ceived fecal microbiota transplantation.The gout control status and occurrence of adverse reactions were observed in both groups;intestinal flora,UA,levels of C-reactive protein(CRP),interleukin-18(IL-18),interleukin-6(IL-6),and scores of joint pain,swelling and limited mobility were compared between the two groups before and after treatment.Results Five patients in each group were lost to follow-up.The total gout control rate in the observation group was 89.13%,which was significantly higher than 69.57% in the control group(P<0.05).At 4 and 12 weeks after treatment,the levels of Escherichia coli,UA,CRP,IL-18 and IL-6 as well as the scores of joint swelling,pain and limited mobility in the observation group were significantly lower than those in the control group,while the lev-els of Bifidobacterium,Lactobacillus and Bifidobacterium to Escherichia coli(B/E)ratio were signifi-cantly higher than those in the control group(P<0.01).The total incidence of adverse reactions was 10.87% in the observation group and 6.52% in the control group,with no significant between-group difference(P>0.05).Conclusion Fecal microbiota transplantation has a definite therapeutic effect for patients with refractory gout,which can significantly reduce UA level and control clinical symptoms,and its mechanism may be related to the correction of intestinal flora imbalance.
3.Rapid progression of colitis caused by lenvatinib combined with tislelizumab for hepatocellular carcinoma treatment:a case study
Jinyuan MA ; Bei WANG ; Quangang ZHU ; Zhengxin WANG ; Yifeng TAO ; Xiaoyan QIU
Chinese Journal of Pharmacoepidemiology 2024;33(3):349-354
A 62-year-old man with hepatocellular carcinoma began to take tyrosine kinase inhibitor(TKI)lenvatinib orally.After taking the medicine for a week,the patient developed watery diarrhea 2 to 3 times a day.The patient received the first dose of tislelizumab.After 20 days,the patient's diarrhea worsened,nearly 40 times a day.Lenvatinib was discontinued and the second dose of tislelizumab was received,while the diarrhea was not significantly relieved.Treatments were given upon the symptoms and diarrhea was alleviated so that lenvatinib was restarted,diarrhea aggravated again and the drug was discontinued.Acute colitis complicated with colon erosion was diagnosed by colonoscopy which was presumed to be immure-associated colitis caused by programmed cell death protein 1(PD-1).The patient was admitted to hospital for liver transplantation.After the administration of immunosuppressive drugs against graft rejection,the diarrhea gradually cleared.Diarrhea caused by anti-PD-1 antibody is usually mild.In this case,mild diarrhea caused by TKI developed rapidly into severe colitis after the first dose of anti-PD-1 antibody.Mechanism of the increasing rate of adverse effect caused by the combined use of TKI and anti-PD-1 antibodies worth further discussion.
4.ICF Based Analysis of Functioning and Disability, Cognitive Processing, and Input Skill of Chinese Characters for Children with Disabilities
Bing LIANG ; Zhouying QIU ; Di CHEN ; Yuanyuan ZHOU ; Jinyuan WANG
Chinese Journal of Rehabilitation Theory and Practice 2017;23(2):136-138
Objective To compare the comprehension and input skills of Chinese characters among children with physical disability, autistic disorder and intellectual disabilities. Methods From December, 2008 to July, 2016, 125 children with disabilities aged 7-14 years were evaluated with International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) functional examination list, and then they received comprehension and input skill training of Chinese characters under CKC Input Scheme. Results There was various dysfunction in comprehension and input skills among children with different disabilities. 70% children improved in Chinese characters input after training. Conclusion It is needed to construct a stage-based, individualized and continuous training approach to promote computer-based learning.
5.Comparison of Barriers of Activity and Participation for 3-6 Years Aged Children with Cerebral Palsy, Intellectual Disability, and Autism Using ICF-CY Questionnaire
Bing LIANG ; Hongzhuo MA ; Zhuoying QIU ; Qinyi LI ; Jinyuan WANG
Chinese Journal of Rehabilitation Theory and Practice 2015;21(9):993-995
Objective To compare the features of activity and participation difficulty of children with cerebral palsy, intellectual disability and autism. Methods 42 children with cerebral palsy, intellectual disability, and autism aged 3-6 years were evaluated with ICF-CY Questionnaire. Results There were mild barriers in the domains of learning and applying knowledge, communication, mobility, self-care, domestic life and major life areas, and the moderate barriers in the domains of general tasks and demands, interpersonal interactions and relations. There were more barriers in learning and applying knowledge in children with cerebral palsy and intellectual disability than those with autism. Conclusion There are various features in activity and participation difficulty in children with cerebral palsy, intellectual disability or autism, which required diversity of educational rehabilitation strategies.


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