1.Research progress in preemptive screening and intervention for autism spectrum disorder in infancy
Siyao CAO ; Jieqiong LIU ; Guangshuai WANG ; Guanghai WANG
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(2):222-227
Autism spectrum disorder(ASD)is a neurodevelopmental disorder starting from early childhood.At present,the age of diagnosis for ASD in children is significantly delayed,typically occurring after two years of age,although behavioral signs or prodromal symptoms can emerge before the age of 12 months.These early indicators gradually evolve into the core symptoms of ASD.It has been well recognized that early screening and intervention can maximally improve its prognosis and promote optimal development of the affected children.Therefore,there has been increasing emphasis on preemptive screening and intervention for prodromal symptoms of ASD before the age of 12 months in clinical practice and research,so as to reduce the symptoms to a normal state to some extent.However,during the prodromal period of ASD,especially before the age of one,preemptive screening and intervention present many challenges.Preemptive screening faces obstacles such as significant individual differences in infant growth and development,incomplete presentation of ASD symptoms,and differing assessment content and criteria;preemptive intervention must overcome challenges like the diversity of screening tools and varying factors of parents.As a result,few research has been conducted in this field.This review mainly introduces preemptive screening tools and intervention techniques for children with ASD in the first year of life,including the intervention used in the British Autism Study of Infant Siblings-video interaction for promoting positive parenting(iBASIS-VIPP),the promoting first relationships,the environmental enrichment for infants,parenting with acceptance and commitment therapy(ENACT),and the adapted response teaching.The application of neuroimaging technology and artificial intelligence technology is also explained to provide reference for relevant research and clinical practice.
2.Research progress in preemptive screening and intervention for autism spectrum disorder in infancy
Siyao CAO ; Jieqiong LIU ; Guangshuai WANG ; Guanghai WANG
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(2):222-227
Autism spectrum disorder(ASD)is a neurodevelopmental disorder starting from early childhood.At present,the age of diagnosis for ASD in children is significantly delayed,typically occurring after two years of age,although behavioral signs or prodromal symptoms can emerge before the age of 12 months.These early indicators gradually evolve into the core symptoms of ASD.It has been well recognized that early screening and intervention can maximally improve its prognosis and promote optimal development of the affected children.Therefore,there has been increasing emphasis on preemptive screening and intervention for prodromal symptoms of ASD before the age of 12 months in clinical practice and research,so as to reduce the symptoms to a normal state to some extent.However,during the prodromal period of ASD,especially before the age of one,preemptive screening and intervention present many challenges.Preemptive screening faces obstacles such as significant individual differences in infant growth and development,incomplete presentation of ASD symptoms,and differing assessment content and criteria;preemptive intervention must overcome challenges like the diversity of screening tools and varying factors of parents.As a result,few research has been conducted in this field.This review mainly introduces preemptive screening tools and intervention techniques for children with ASD in the first year of life,including the intervention used in the British Autism Study of Infant Siblings-video interaction for promoting positive parenting(iBASIS-VIPP),the promoting first relationships,the environmental enrichment for infants,parenting with acceptance and commitment therapy(ENACT),and the adapted response teaching.The application of neuroimaging technology and artificial intelligence technology is also explained to provide reference for relevant research and clinical practice.
3.Clinical characteristics of myeloid tumors combined with the proliferation of large granular lymphocytes
Chenxiao DU ; Guangpeng XIANG ; Lan PENG ; Xiangyao XIAO ; Guangshuai TENG ; Yuhui ZHANG ; Yan WANG ; Yifan DUAN ; Zonghong SHAO ; Jie BAI
Chinese Journal of Hematology 2024;45(4):396-400
Myeloid neoplasms (MNs) belong to a group of hematological malignancies characterized by the abnormal biological functions of hematopoietic stem progenitor cells. The abnormal immune and hematopoietic microenvironment of patients with MN interact with malignant clonal hematopoietic stem cells, promoting the occurrence and development of their diseases. MN large granular lymphocyte proliferation (MN-LGLP) is a special and rare clinical phenomenon in this type of disease. Currently, research on this disease in domestic and international cohorts is limited. This study analyzes the clinical and laboratory characteristics of this type of patient and explores the impact of LGLP on the clinical characteristics and survival of patients with MN. Patients with MN-LGLP are prone to neutropenia and splenomegaly. The presence of LGLP is not a risk factor affecting the survival of patients with MN-LGLP. STAG, ASXL1, and TET2 are the most common accompanying gene mutations in MN-LGLP, and patients with MN-LGLP and STAG2 mutations have poor prognoses.
4.Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay
Yu ZHANG ; Zheng CHEN ; Jiandong WANG ; Guangshuai WEI ; Jiechao NIU ; Yao WANG ; Huaili WANG
Chinese Journal of Medical Genetics 2024;41(5):591-595
Objective:To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay.Methods:A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject. Clinical data of the child and his pedigree (11 individuals from three generations) was collected. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing.Results:The child, a two-year-and-seven-month-old male, had hyper- and hypopigmentation on his hands, feet and face, in addition with delayed development. All members of his pedigree had typical presentation of DSH. A heterozygous c. 2657G>A variant was found in exon 8 of the ADAR gene in the child, his mother, and elder sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP1+ PP3). Conclusion:The c. 2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree.
5.Bioinformatic exploration of common differentially expressed genes and related signaling pathways between Helicobacter pylori and rosacea
Shengjun CHEN ; Wenhui LIU ; Shuqi WANG ; Shaowen FANG ; Xinlong ZHOU ; Guangshuai LI
Chinese Journal of Plastic Surgery 2023;39(8):858-867
Objective:To explore the common signaling pathways of Helicobacter pylori(Hp) infection and rosacea and screen Hub genes by bioinformatic analysis. Methods:Gene expression data sets related to Hp (GSE70394) and rosacea (GSE65914) were downloaded from GEO database. The common differentially expressed genes (DEGs) were screened by using the limma package of R and Venn diagram. Metascape database was used for gene ontology(GO) enrichment analysis, and clusterProfiler package of R was used for Kyoto encyclopedia of genes and genomes(KEGG) analysis on up-regulated and down-regulated genes. Subsequently, STRING and Cytoscape software were used to establish protein-protein interaction(PPI) network and its internal plug-in MCODE and Cytohubba were applied to screen key functional modules and Hub genes, then Hub genes were imported into GeneMANIA to construct Hub genes co-expression network. Finally, GO and KEGG enrichment analysis of Hub genes were performed again.Results:GSE70394 and GSE65914 data sets included three samples of AGS cells without Hp infection and three samples of AGS cells 24 hours after Hp infection, skin tissues from nineteen rosacea patients and ten healthy volunteers, respectively. Finally, 139 common DEGs were obtained including 93 up-regulated genes and 46 down-regulated genes. GO enrichment analysis mainly focused on smooth muscle cell regulation, vascular development and lipid metabolism. KEGG enrichment analysis mainly involved lipid and atherosclerosis, inflammatory response and immune-related pathways, such as PPAR signaling pathway, cytokine-cytokine receptor interaction, Th17 cell differentiation, IL-17 signaling pathway and NF-κB signaling pathway. Total of 16 Hub genes were identified by Cytohubba, including SPRR1B, GCLM, KRT16, GPX2, S100A2, SOD2, MMP1, MSMO1, HMOX1, GLRX, IL-1β, CXCL1, PPARγ, HMGCS1, SRXN1 and SPRR3.Conclusion:There is a link existing between Hp infection infection and rosacea. Hp may be involved in the occurrence and development of rosacea by mediating inflammatory immune response and regulating lipid metabolism, the selected Hub genes and related signaling pathways may provide a theoretical reference for subsequent correlation analysis.
6.Bioinformatic exploration of common differentially expressed genes and related signaling pathways between Helicobacter pylori and rosacea
Shengjun CHEN ; Wenhui LIU ; Shuqi WANG ; Shaowen FANG ; Xinlong ZHOU ; Guangshuai LI
Chinese Journal of Plastic Surgery 2023;39(8):858-867
Objective:To explore the common signaling pathways of Helicobacter pylori(Hp) infection and rosacea and screen Hub genes by bioinformatic analysis. Methods:Gene expression data sets related to Hp (GSE70394) and rosacea (GSE65914) were downloaded from GEO database. The common differentially expressed genes (DEGs) were screened by using the limma package of R and Venn diagram. Metascape database was used for gene ontology(GO) enrichment analysis, and clusterProfiler package of R was used for Kyoto encyclopedia of genes and genomes(KEGG) analysis on up-regulated and down-regulated genes. Subsequently, STRING and Cytoscape software were used to establish protein-protein interaction(PPI) network and its internal plug-in MCODE and Cytohubba were applied to screen key functional modules and Hub genes, then Hub genes were imported into GeneMANIA to construct Hub genes co-expression network. Finally, GO and KEGG enrichment analysis of Hub genes were performed again.Results:GSE70394 and GSE65914 data sets included three samples of AGS cells without Hp infection and three samples of AGS cells 24 hours after Hp infection, skin tissues from nineteen rosacea patients and ten healthy volunteers, respectively. Finally, 139 common DEGs were obtained including 93 up-regulated genes and 46 down-regulated genes. GO enrichment analysis mainly focused on smooth muscle cell regulation, vascular development and lipid metabolism. KEGG enrichment analysis mainly involved lipid and atherosclerosis, inflammatory response and immune-related pathways, such as PPAR signaling pathway, cytokine-cytokine receptor interaction, Th17 cell differentiation, IL-17 signaling pathway and NF-κB signaling pathway. Total of 16 Hub genes were identified by Cytohubba, including SPRR1B, GCLM, KRT16, GPX2, S100A2, SOD2, MMP1, MSMO1, HMOX1, GLRX, IL-1β, CXCL1, PPARγ, HMGCS1, SRXN1 and SPRR3.Conclusion:There is a link existing between Hp infection infection and rosacea. Hp may be involved in the occurrence and development of rosacea by mediating inflammatory immune response and regulating lipid metabolism, the selected Hub genes and related signaling pathways may provide a theoretical reference for subsequent correlation analysis.
7.Research progress on mechanobiology of scar
Luosha GU ; Qingyan DU ; Pu WANG ; Guangshuai LI ; Qiying WANG ; Zong CHEN ; Linbo LIU
Chinese Journal of Plastic Surgery 2020;36(10):1160-1165
Scar is an inevitable consequence of full-thickness skin injury. Hypertrophic scar and keloid are caused by abnormal wound healing. Mechanical factors play an important role in scar formation. An extensive literature review on mechanobiology of scar and wound healing, as well as a summary of the mechanobiological factors of scar formation and treatments, and mechanical model of scar were conducted, with guiding future development in this research field.
8.Research progress on mechanobiology of scar
Luosha GU ; Qingyan DU ; Pu WANG ; Guangshuai LI ; Qiying WANG ; Zong CHEN ; Linbo LIU
Chinese Journal of Plastic Surgery 2020;36(10):1160-1165
Scar is an inevitable consequence of full-thickness skin injury. Hypertrophic scar and keloid are caused by abnormal wound healing. Mechanical factors play an important role in scar formation. An extensive literature review on mechanobiology of scar and wound healing, as well as a summary of the mechanobiological factors of scar formation and treatments, and mechanical model of scar were conducted, with guiding future development in this research field.
9.Design and Control of a Soft and Wearable Robotic Glove for Hand Rehabilitation
Guangshuai PENG ; Xingyu FAN ; Xiaoyu LIU ; Lizhen WANG
Journal of Medical Biomechanics 2019;34(6):E637-E643
Objective To improve the clinical application of using rehabilitation robot for hand rehabilitation and solve the current shortcomings of rigid hand rehabilitation robot, such as complex structure, heavy weight, potential safety hazard, a new soft and wearable robotic glove was proposed. Methods The robotic glove was driven by McKibben pneumatic artificial muscles (PAMs). The tendon drive system was designed based on simulation of human hand anatomy and physiology structure, which could transmit forces and torques through the user’s own skeleton and joints. The normal hand movement could be simulated and this design pattern highly reduced the weight of the robotic glove. Meanwhile a surface electromyogrphy (sEMG) collecting circuit was developed to acquire sEMG signals from the forearm. User intent could be detected by measuring the sEMG of flexor digitorum superficialis and extensor digitorum communis on the forearm. Results The results of the experiment investigation on characteristics of the soft robotic glove showed that the robotic glove could effectively assist people completing daily activities and grasping daily necessities. The feasibility and scientificity of the robotic glove was validated. Conclusions The soft and wearable robotic glove has an advantage of light weight, easy operation and high comfortableness, and it can provide references for the study and design of similar hand rehabilitation devices.
10.Clinical value and safety of antiarrhythmic drugs in the treatment of atrial fibrillation
Fuqiang DONG ; Guangshuai TENG ; Xuewen WANG ; Zhanquan JIAO ; Yong JIANG
Chinese Journal of Biochemical Pharmaceutics 2017;37(8):278-279
Objective To investigate the clinical value and safety of cedilanid, esmolol in the treatment of atrial fibrillation. Methods From August 2014 to August 2016 our Hospital from 117 patients with atrial fibrillation clinical data, according to the random number distribution principle, the patients were divided into observation group 59 cases and control group of 58 cases, all patients were given the treatment of primary disease, the clinical symptoms, the patients in the observation group were given oxygen, has given furosemide, cedilanid, after micro injection pump intravenous nitroglycerin, 5-20 g/min. Start after the injection of nitroglycerin, establish another vein channel, every 30 min to 0.2 mg patients, the treatment group were treated with intravenous injection of small dose esmolol. The clinical efficacy, ventricular rate, systolic blood pressure, diastolic blood pressure and adverse reactions were observed in two groups. Results The early and late effective rates of the two groups were not significantly different. The observation showed that after treatment, the ventricular rate, systolic pressure and diastolic pressure in the observation group were significantly higher than those in the control group (P<0.05), and the incidence of adverse reactions in the two groups was significantly different (P<0.05). Conclusion High dose cedilanid combined with small dose esmolol in treatment of atrial fibrillation, obvious curative effect, high safety, can choose the appropriate application.

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