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World Journal of Diabetes 2024年第8期15卷 1811-1819页

作者： Ling-Hua Shen Yan Cui Dong-Xia Fu Wei Yang sheng-nan wu Hui-Zhen Wang Hai-Hua Yang Yong-Xing Chen Hai-Yan Wei Department of Endocrinology and Metabolism Henan Key Laboratory of Children's Genetics and Metabolic DiseasesChildren's Hospital Affiliated to Zhengzhou UniversityHenan Children's Hospital Zhengzhou Children's HospitalZhengzhou 450018Henan ProvinceChina

BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of *** often enter remission within several months,although relapse can occur later in *** in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal *** study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea *** SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September *** patients were tested for mutations using targeted next-generation *** with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported *** children had an onset of post-infectious diabetic ketoacidosis,which is worth *** a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse *** Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.

关键词： Neonatal diabetes mellitus ABCC8 Sulfonylurea receptors 1 KATP channels Sulfonylurea Glyburide Insulinulin Case report

Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma

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Cell Research 2001年第3期11卷 209-216页

作者： QIN WEN XIN, DA FANG WAN, FEN YONG SUN, PING PING ZHANG, LI WEI HAN, YI HUANG, HUI QIU JIANG, XIN TAI ZHAO, MEI HE. YUN YE, WEN MING CONG, MENG CHAO wu, LI sheng ZHANG, nan wu YANG, JIAN REN GU National LaBoratory for Oncogenes and Related Gencs, Shanghai National Laboratory for Oncogenes and Related Genes Shanghai Cancer Institute 25/Ln 2200 Xie Tu Road Shanghai 200032 China. Shanghai GeneCore Biotechnologies 200 Tian Lin Road Shanghai 200233 China. Eastern Hepatobiliary Surgery Hospital Second Military Medical University 225 Changhai Road Shanghai 200433 China. Cancer Hospital Guangxi Medical University Nanning 500021 China.

Using a combination of hybridization of PAC to a cDNA library and RACE technique, we isolated a novel cDNA, designated as C17orf25 (Chromosome 17 open rea(ling frame 25, previously named it HC71A), from the deletion region on chromosome 17p13.3. The cDNA encodes a protein of 313 amino acids with a calculated molecular mass of 34.8 kDa. C17orf25 is divided into 10 exons and 9 introns, spanning 23 kb of genomic DNA. Northern blot analysis showed that the mRNA expression of C17orf25 was decreased in hepatocellular carcinoma samples as compared to adjacent noncancerous liver tissues from the same patients. The transfection of C17or25 into the hepatocellular carcinoma cell SMMC7721 and overexpression could inhibit the cell growth. The above results indicate that C17orf25 is a novel human gene, and the cloning and preliminary characterization of C17orf25 is a prerequisite for further functional analysis of this novel gene in human hepatocellular carcinoma.

关键词： Chromosome 17p13.3 1lss of heterozygosity hepatocellular carcinoma transfection novel human gene (C17orf25)

Polymorphism of Prodynorphin promoter is associated with schizophrenia in Chinese population

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Acta Pharmacologica Sinica 2004年第8期 48-52页

作者： Chang-shun ZHANG, Zheng TAN, Lan YU, sheng-nan wu, Ying HE, Niu-fan GU, Guo-yin FENG, Lin HEBio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai 200030 institute of Nutrition Science, Chinese Academy of Sciences, Shanghai 200031 Shanghai Institute of Mental Health, Shanghai 200030, China

AIM: To investigate the correlation between single nucleotide polymorphisms (SNPs) of functional candidate gene Prodynorphin (PDYN) and schizophrenia. METHODS: SNPs in the promoter and exon regions of PDYN were screened and genotyped for association study in a cohort of Chinese Han schizophrenia cases and controls. RESULTS: Two SNPs PDYN-1576C>T and PDYN-946C>G were identified in the promoter region but PDYN-946C>G showed significant differences of allele distribution (x2=6.15, P=0.013) and genotype distribution (x2=6.87, P=0.032) between schizophrenic and control subjects. CONCLUSION: PDYN-946C>G polymorphism demonstrated an association with population susceptibility to schizophrenia (P<0.05).

关键词： neuropeptides prodynorphin single nucleotide polymorphism schizophrenia

Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： sheng-nan wu Hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang Wen-Juan Qiu Hui-Wen Zhang Rui-Xue Shuai Hai-Yan Wei Chi-Ju Yang Peng Xu Xi-Gui Chen Hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji Xue-Fan Gu Yong-Xing Chen Lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome

Transarterial chemoembolization combined with lenvatinib and sintilimab vs lenvatinib alone in intermediate-advanced hepatocellular carcinoma

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 52-61页

作者： Fei-Da wu Hai-Feng Zhou Wei Yang Di Zhu Bi-Fei wu Hai-Bin Shi sheng Liu Wei-Zhong Zhou Department of Interventional Radiology The First Affiliated Hospital of Nanjing Medical UniversityNanjing 210029Jiangsu ProvinceChina

BACKGROUND Hepatocellular carcinoma(HCC)is the most common form of liver cancer that has limited treatment options and a poor *** chemoembolization(TACE)is the first-line treatment for intermediate-stage HCC but can induce tumour hypoxia,thereby promoting *** studies suggested that combining TACE with anti-angiogenic therapies and immunotherapy might im-prove ***,a tyrosine kinase inhibitor,has demonstrated superior outcomes compared to sorafenib,while immune checkpoint inhibitors such as sintilimab show potential when combined with ***,the efficacy and safety of TACE combined with lenvatinib and sintilimab(TACE+SL)compared to TACE with lenvatinib alone(TACE+L)in patients with intermediate-ad-vanced HCC has not yet been *** To evaluate the efficacy and safety of TACE+SL therapy in comparison to TACE+L therapy in patients with intermediate-advanced *** A retrospective analysis was performed on patients with intermediate-advanced HCC who received TACE plus lenvatinib with or without sintilimab between September 2019 and September *** characteristics were compared,and propensity score matching was *** survival(OS),progression-free survival(PFS),and objective response rate(ORR)were evaluated between the two groups,and adverse events were *** The study included 57 patients,with 30 in the TACE+SL group and 27 in the TACE+L *** TACE+SL group demonstrated significantly improved median PFS and OS compared to the TACE+L group(PFS:14.1 months vs 9.6 months,P=0.016;OS:22.4 months vs 14.1 months,P=0.039),along with a higher ORR(70.0%vs 55.6%).After propensity score matching,30 patients were included,with the TACE+SL group again showing longer median PFS and a trend toward improved OS(PFS:14.6 months vs 9.2 months,P=0.012;OS:23.9 months vs 16.3 months,P=0.063),and a higher ORR(73.3%vs 53.3%).No severe adverse events were *** TACE+SL demonstrat

关键词： Hepatocellular carcinoma Transarterial chemoembolization Sintilimab Lenvatinib Immunotherapy Programmed cell death 1 Prognosis

Single-cell transcriptomic profiling reveals ZEB1-mediated regulation in microglial subtypes and the impact of exercise on neuroinflammatory responses

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Traditional Medicine Research 2025年第2期10卷 55-64页

作者： Jin-Fang wu Yi-sheng Chen Yu-Chun Xie Department of Rehabilitation Medicine Jiangsu Province Geriatric HospitalNanjing 210024China Fujian Key Laboratory of Toxicant and Drug Toxicology Medical CollegeNingde Normal UniversityNingde 352100China Central Laboratory Jiangsu Province Geriatric HospitalNanjing 210024China

Background:This study aims to identify distinct cellular subtypes within brain tissue using single-cell transcriptomic analysis,focusing on specific biomarkers that differentiate cell types and the effects of traditional and exercise ***:Four samples were analyzed:older control(OC),older exercise(OE),younger control(YC),and younger exercise(YE).Single-cell RNA sequencing was used to distinguish cellular subtypes through their biomarker *** visualization included violin and t-SNE plots to illustrate biomarker expression across cell clusters such as oligodendrocytes,microglia,and ***,BV2 cells were exposed to amyloid-beta fragments to simulate Alzheimer’s disease,assessing the impact of exercise-induced cellular ***:Distinct cellular subtypes were identified:oligodendrocytes(MBP,St18),microglia(Dock8),and astrocytes(Aqp4,Gpc5).Sample OE was predominantly oligodendrocytes,while YE had more astrocytes,inhibitory neurons,and Canal-Retzius *** showed a significant presence of Olfm3+ganglion ***1 gene knockout revealed changes in SMAD family gene expression,which regulate *** stress levels were also ***:This profiling enhances our understanding of brain cellular functions and interactions,potentially informing targeted therapies in neurological *** may influence brain cell immune responses and cell death pathways by regulating specific gene expressions,offering new insights for treating neuroinflammation and degeneration.

关键词： single-cell transcriptomics brain tissue cellular subtypes biomarker expression neuronal diversity

Pancreatic stent improves the success rate of needle-knife papillotomy in patients with difficult biliary cannulation

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World Journal of Gastroenterology 2025年第1期31卷 58-67页

作者： Mu-Hsien Lee Cheng-Hui Lin Chi-Huan wu Yung-Kuan Tsou Kai-Feng Sung sheng-Fu Wang Nai-Jen Liu Department of Gastroenterology and Hepatology Chang Gung Memorial Hospital and Chang Gung University College of MedicineTaoyuan 33305Taiwan School of Medicine Chang Gung UniversityTaoyuan 33305Taiwan

BACKGROUND Needle-knife precut papillotomy(NKP)is typically performed ***,it remains unclear whether pancreatic stent(PS)placement can improve the outcomes of *** To explore whether PS placement improves the success rate of NKP in patients with difficult biliary *** This single-center retrospective study included 190 patients who underwent NKP between January 2017 and December 2021 after failed conventional biliary *** cases with incidental pancreatic duct cannulation during conventional biliary cannulation,the decision for pre-NKP PS placement was made at the endoscopist's *** primary outcome was the difference in the NKP success rate between patients with and without PS placement;the secondary outcome was the adverse event *** Among the 190 participants,82 received pre-NKP PS(PS-NKP group)whereas 108 did not[freehand or freehand NKP(FH-NKP)group].Post-NKP selective biliary cannulation was successful in 167(87.9%)patients,and the PS-NKP had a significantly higher success rate than the FH-NKP group(93.9%vs 83.3%,P=0.027).The overall adverse event rates were 7.3%and 11.1%in the PS-NKP and FH-NKP groups,respectively(P=0.493).A periampullary diverticulum(PAD)and significant intraoperative bleeding during NKP were independently associated with NKP failure;however,a pre-NKP PS was the only predictor of NKP *** the 44 participants with PADs,the PS-NKP group had a non-significantly higher NKP success rate than the FH-NKP group(87.5%and 65%,respectively;P=0.076).CONCLUSION PS significantly improved the success rate of NKP in patients with difficult biliary cannulation.

关键词： Difficult biliary cannulation Endoscopic retrograde cholangiopancreatography Needle-knife papillotomy Pancreatic stent Selective biliary cannulation

Hypoxia-preconditioned bone marrow-derived mesenchymal stem cells protect neurons from cardiac arrest-induced pyroptosis

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Neural Regeneration Research 2025年第4期20卷 1103-1123页

作者： Xiahong Tang nan Zheng Qingming Lin Yan You Zheng Gong Yangping Zhuang Jiali wu Yu Wang Hanlin Huang Jun Ke Feng Chen shengli Clinical Medical College of Fujian Medical University Fujian Medical UniversityFuzhouFujian ProvinceChina Department of Emergency Fujian Provincial HospitalFuzhouFujian ProvinceChina Fujian Provincial Key Laboratory of Emergency Medicine FuzhouFujian ProvinceChina The Second Department of Intensive Care Unit Fujian Provincial Hospital South BranchFuzhouFujian ProvinceChina

Cardiac arrest can lead to severe neurological impairment as a result of inflammation,mitochondrial dysfunction,and post-cardiopulmonary resuscitation neurological *** preconditioning has been shown to improve migration and survival of bone marrow–derived mesenchymal stem cells and reduce pyroptosis after cardiac arrest,but the specific mechanisms by which hypoxia-preconditioned bone marrow–derived mesenchymal stem cells protect against brain injury after cardiac arrest are *** this end,we established an in vitro co-culture model of bone marrow–derived mesenchymal stem cells and oxygen–glucose deprived primary neurons and found that hypoxic preconditioning enhanced the protective effect of bone marrow stromal stem cells against neuronal pyroptosis,possibly through inhibition of the MAPK and nuclear factor κB ***,we transplanted hypoxia-preconditioned bone marrow–derived mesenchymal stem cells into the lateral ventricle after the return of spontaneous circulation in an 8-minute cardiac arrest rat model induced by *** results showed that hypoxia-preconditioned bone marrow–derived mesenchymal stem cells significantly reduced cardiac arrest–induced neuronal pyroptosis,oxidative stress,and mitochondrial damage,whereas knockdown of the liver isoform of phosphofructokinase in bone marrow–derived mesenchymal stem cells inhibited these *** conclude,hypoxia-preconditioned bone marrow–derived mesenchymal stem cells offer a promising therapeutic approach for neuronal injury following cardiac arrest,and their beneficial effects are potentially associated with increased expression of the liver isoform of phosphofructokinase following hypoxic preconditioning.

关键词： bone marrow–derived mesenchymal stem cells cardiac arrest cardiac resuscitation hypoxic preconditioning liver isoform of phosphofructokinase mitochondria neuroinflammation oxidative stress pyroptosis reactive oxygen species

Enhancing postoperative pain control by surgically-initiated rectus sheath block in abdominal aortic aneurysm open repair: A case report

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World Journal of Clinical Cases 2025年第6期13卷 41-47页

作者： Kuan-Hua Chen Ming-Yuan Kang Yi-Ting Chang sheng-Yang Huang Yung-Szu wu Center for Cardiovascular Disease Taichung Veterans General HospitalTaichung 407219TaiwanChina Department of Anesthesiology Taichung Veterans General HospitalTaichung 407219TaiwanChina Division of Pediatric Surgery Department of SurgeryTaichung Veterans General HospitalTaichung 407219TaiwanChina School of Medicine National Yang Ming Chiao Tung UniversityTaipei 112304TaiwanChina Department of Post-Baccalaureate Medicine National Chung Hsing UniversityTaichung 402202TaiwanChina

BACKGROUND Abdominal aortic aneurysm(AAA)repair often involves significant postoperative pain,traditionally managed with systemic opioids,which can cause undesirable side *** case report explores the novel use of a surgically-initiated rectus sheath block with a catheter-over-needle assembly for pain management in AAA *** SUMMARY A 67-year-old female with hypertension and previous aortic dissection underwent elective open repair of an infrarenal AAA,which had grown from 3.4 cm to 4.3 cm over 14 months.A rectus sheath block was initiated surgically for postoperative pain *** patient reported low pain scores and did not require systemic intravenous opioids,enabling early ambulation and discharge on postoperative day seven without *** preventing complications of systemic opi-oids,the method indicating a promising direction for postoperative pain management in major vascular *** Surgically-initiated rectus sheath block as a valuable tool for managing postoperative pain in AAA repair.

关键词： Abdominal aortic aneurysm Postoperative pain management Rectus sheath block Surgical anesthesia Opioid-sparing techniques Case report

Near-infrared brain functional characteristics of mild cognitive impairment with sleep disorders

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World Journal of Psychiatry 2025年第1期15卷 106-116页

作者： Heng Liao Sha Liao Yu-Jiao Gao Xi Wang Li-Hong Guo Su Zheng wu Yang Yi-nan Dai Sleep Psychosomatic Medicine Center Taihe Hospital of Shiyan CityAffiliated Hospital of Hubei University of MedicineShiyan 442000Hubei ProvinceChina Department of Integrated Chinese and Western Medicine Taihe Hospital of Shiyan CityAffiliated Hospital of Hubei University of MedicineShiyan 442000Hubei ProvinceChina Department of Orthopaedics Taihe Hospital of Shiyan CityAffiliated Hospital of Hubei University of MedicineShiyan 442000Hubei ProvinceChina Department of Rehabilitation Taihe Hospital of Shiyan CityAffiliated Hospital of Hubei University of MedicineShiyan 442000Hubei ProvinceChina

BACKGROUND Mild cognitive impairment(MCI)has a high risk of progression to Alzheimer’s *** disease is often accompanied by sleep disorders,and whether sleep disorders have an effect on brain function in patients with MCI is *** To explore the near-infrared brain function characteristics of MCI with sleep *** A total of 120 patients with MCI(MCI group)and 50 healthy subjects(control group)were *** subjects underwent the functional near-infrared spec-troscopy *** baseline data,Mini-Mental State Examination,Montreal Cognitive Assessment scale,fatigue severity scale(FSS)score,sleep parameter,and oxyhemoglobin(Oxy-Hb)concentration and peak time of functional near-infrared spectroscopy test during the task *** relationship between Oxy-RESULTS Compared with the control group,the FSS score of the MCI group was higher(t=11.310),and the scores of Pittsburgh sleep quality index,sleep time,sleep efficiency,nocturnal sleep disturbance,and daytime dysfunction were higher(Z=-10.518,-10.368,-9.035,-10.661,-10.088).Subjective sleep quality and total sleep time scores were lower(Z=-11.592,-9.924).The sleep efficiency of the MCI group was lower,and the awakening frequency,rem sleep latency period,total sleep time,and oxygen desaturation index were higher(t=5.969,5.829,2.887,3.003,5.937).The Oxy-Hb concentration at T0,T1,and T2 in the MCI group was lower(t=14.940,11.280,5.721),and the peak time was higher(t=18.800,13.350,9.827).In MCI patients,the concentration of Oxy-Hb during T0 was negatively correlated with the scores of Pittsburgh sleep quality index,sleep time,total sleep time,and sleep efficiency(r=-0.611,-0.388,-0.563,-0.356).It was positively correlated with sleep efficiency and total sleep time(r=0.754,0.650),and negatively correlated with oxygen desaturation index(r=-0.561)and FSS score(r=-0.526).All comparisons were P<*** Patients with MCI and sleep disorders have lower near-infrared brain function than norm

关键词： Mild Cognitive impairment Sleep disorders Near-infrared Brain functional Characteristics