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Characterization of the molecular dysfunctions occurring in Aicardi-Goutieres syndrome patients with mutations in ADAR1

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Genes & Diseases 2024年第3期11卷 116-119页

作者： Sofan Al wardat Loredana Frasinlli Elisa Orecchini Federica Rey Silvia Anna Ciafre Silvia Galardi Jessica Garau Stella Gagliardi Simona Orcesi Davide Tonduti Stephana Carelli Cristina Cereda Ernesto Picardi Alessandro Michienzi Department of Biomedicine and Prevention University of Rome Tor VergataRome 00133Italy pediatric clinical research center"romeo ed enrica invernizzi" Department of Biomedical and Clinical SciencesUniversity of MilanoMilano 20157Italy center of Functional Genomics and Rare Diseases Department of PediatricsBuzzi Children's HospitalMilano20154Italy Department of Child Neurology and Psychiatry IRccs Mondino FoundationPavia 27100Italy Unit of pediatric Neurology C.O.A.L.A(Center for Diagnosis and Treatment of Leukodystrophies)Buzzi Children's HospitalMilano 20154Italy Department of Biosciences Biotechnologies and EnvironmentUniversityof Bari"AldoMoro"Bari 70125Italy Institute of Biomembranes Bioenergetics and Molecular Biotechnologies(IBIOM)National Research Council(CNR)Bari 70126Italy Biostructures and Biosystems National Institute(INBB) Rome00136Italy Institute of Biochemistry and Cell Biology IBBC-CNRCampus Adriano Buzzati TraversoRome 00015Italy

Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that belongs to the ADAR family(ADAR1,ADAR2,and ADAR3)that catalyzes the conversion of adenosine to inosine within double-stranded RNAs(dsRNAs)(RNA editing A-to-1).

关键词： ADAR1 interferon res

Mitochondrial dysfunctions in neurodegenerative diseases:role in disease pathogenesis,strategies for analysis and therapeutic prospects

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Neural Regeneration research 2022年第4期17卷 754-758页

作者： Federica Rey Sara Ottolenghi Gian Vincenzo Zuccotti Michele Samaja Stephana Carelli Department of Biomedical and clinical Sciences“L.Sacco” University of MilanMilanoItaly Paediatric clinical research Centre Fondazione“romeo ed enrica invernizzi” University of MilanoMilanoItaly Laboratory of Biochemistry Department of Health SciencesUniversity of MilanMilanoItaly Department of Paediatrics Children’s Hospital“V.Buzzi”MilanoItaly

Fundamental organelles that occur in every cell type with the exception of mammal erythrocytes,the mitochondria are required for multiple pivotal processes that include the production of biological energy,the biosynthesis of reactive oxygen species,the control of calcium homeostasis,and the triggering of cell *** disruption of anyone of these processes has been shown to impact strongly the function of all cells,but especially of *** this review,we discuss the role of the mitochondria impairment in the development of the neurodegenerative diseases Amyotrophic Lateral Sclerosis,Parkinson's disease and Alzheimer's *** highlight how mitochondria disruption revolves around the processes that underlie the mitochondria's life cycle:fusion,fission,production of reactive oxygen species and energy *** genetic and sporadic forms of neurodegenerative diseases are unavoidably accompanied with and often caused by the dysfunction in one or more of the key mitochondrial ***,in order to get in depth insights into their health status in neurodegenerative diseases,we need to focus into innovative strategies aimed at characterizing the various mitochondrial *** techniques include Mitostress,Mitotracker,transmission electron microscopy,oxidative stress assays along with expression measurement of the proteins that maintain the mitochondrial *** will also discuss a panel of approaches aimed at mitigating the mitochondrial *** include canonical drugs,natural compounds,supplements,lifestyle interventions and innovative approaches as mitochondria transplantation and gene *** conclusion,because mitochondria are fundamental organelles necessary for virtually all the cell functions and are severely impaired in neurodegenerative diseases,it is critical to develop novel methods to measure the mitochondrial state,and novel therapeutic strategies aimed at improving their health.

关键词： Alzheimer's disease amyotrophic lateral sclerosis mitochondria mitochondria modulation mitochondrial dysfunction mitochondrial health Mitostress Mitotracker neurodegenerative disease Parkinson's disease

Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations

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Cellular & Molecular Immunology 2021年第6期18卷 1593-1595页

作者： Jessica Garau Daisy Sproviero Francesca Dragoni Elisa Piscianz Carolina Santonicola Davide Tonduti Stephana Carelli Alessandra Tesser Gian Vincenzo Zuccotti Alberto Tommasini Simona Orcesi Orietta Pansarasa Cristina Cereda Genomic and post-Genomic Unit IRCCS Mondino FoundationPaviaItaly Department of Biology and Biotechnology“L.Spallanzani” University of PaviaPaviaItaly Department of Medicine Surgery and Health SciencesUniversity of TriesteTriesteItaly Child Neurology Unit-COALA(center for diagnosis and treatment of leukodystrophies)-Children’s Hospital“V.Buzzi” MilanItaly Department of Biomedical and clinical Sciences“L.Sacco” University of MilanMilanItaly pediatric clinical research center Fondazione romeo ed enrica invernizzi University of MilanMilanItaly Department of pediatrics Institute for Maternal and Child Health“IRCCS Burlo Garofolo”TriesteItaly Department of pediatrics Children’s Hospital“V.Buzzi”MilanItaly Unit of Child Neurology and Psychiatry IRCCS Mondino FoundationPaviaItaly Department of Brain and Behavioral Sciences University of PaviaPaviaItaly

Aicardi–Goutières syndrome(AGS)is a rare genetic disease caused by mutations in nine genes that are all involved in nucleic acid metabolism or sensing.1,2 The three RNASEH2 subunits represent the most frequently mutated genes in AGS patients,1,3 and mutations in RNASEH2 subunits lead to the accumulation of endogenous RNA:DNA hybrids that may trigger an interferon-α-mediated immune response4 through the activation of pattern recognition receptors(PRRs).5 PRRs perform surveillance on extracellular,endosomal,and cytosolic compartments to identify signs of infection:endogenous nucleic acids that are inappropriately cleared may enter and accumulate in the cytoplasm,driving inflammation and autoimmune diseases.6 This accumulation may be the cause of the clinical autoimmune phenotype of AGS patients carrying RNASEH2 mutations.A proven effective cure for AGS has not been discovered,and targeting these two pathways may lead to a treatment that improves patients’immunological ***(HCQ)interferes with normal antigen processing and presentation and is widely used in the clinical treatment of autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis.7 HCQ is also a well-known inhibitor of autophagy that prevents the degradation of *** drug inhibits acidification and maturation of endosomes and increases the pH in lysosomes,resulting in the inhibition of their main functions,such as downstream cell signaling through TLRs.7 Therefore,the aim of our work was to investigate whether HCQ is able to modulate the abnormal inflammatory response driven by RNA:DNA hybrids.

关键词： patients endogenous metabolism

儿童MRI检查前联合咪达唑仑镇静时右美托咪定的有效剂量测定

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解放军医学杂志 2024年第8期49卷 876-880页

作者：汤坚邱金鹏屠海亚赵佳莲胡瑶琴浙江大学医学院附属儿童医院麻醉科/国家儿童健康与疾病临床医学研究中心浙江杭州310052

目的测定儿童磁共振成像(MRI)检查前联合咪达唑仑镇静时右美托咪定的有效剂量。方法本研究为前瞻性改良序贯研究。纳入2023年2-3月在浙江大学医学院附属儿童医院接受MRI检查前行镇静的26例患儿,年龄2个月至6岁,体重6.0~23.5 kg。所有患... 详细信息

目的测定儿童磁共振成像(MRI)检查前联合咪达唑仑镇静时右美托咪定的有效剂量。方法本研究为前瞻性改良序贯研究。纳入2023年2-3月在浙江大学医学院附属儿童医院接受MRI检查前行镇静的26例患儿,年龄2个月至6岁,体重6.0~23.5 kg。所有患儿给予0.5 mg/kg咪达唑仑口服,再经鼻滴入右美托咪定。采用改良序贯法测定此联合用药时所需右美托咪定的剂量,初始剂量为0.5μg/kg,等差剂量为0.1μg/kg,采用probit回归分析法计算右美托咪定的半数有效剂量(ed50)和95%有效剂量(ed_(95))及相应的95%CI,并记录镇静患儿入睡及苏醒时间、用药前后的生命体征及不良反应。结果所有患儿中,镇静有效患儿的镇静入睡时间为(31.21±7.47)min、苏醒时间为(81.21±26.04)min。MRI检查前镇静中联合0.5 mg/kg咪达唑仑口服时,右美托咪定滴鼻有效镇静的ed50为0.392μg/kg,95%CI为0.302~0.461μg/kg;ed_(95)为0.549μg/kg,95%CI为0.473~0.996μg/kg。镇静有效患儿入睡后的心率、舒张压与给药前基础状态比较,差异有统计学意义(P<0.05)。出现苏醒期躁动2例,无其他不良反应发生。结论右美托咪定滴鼻联合咪达唑仑用药方案无创,便于实行,且安全有效,可在儿童MRI检查中推广应用。

关键词：右美托咪定咪达唑仑镇静序贯法磁共振成像

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

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World Journal of pediatrics 2015年第4期11卷 366-373页

作者： Shan-Shan Chu Jun Ye Hui-Wen Zhang Lian-Shu Han Wen-Juan Qiu Xiao-Lan Gao Xue-Fan Gu Department of pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina

Background:X-linked adrenoleukodystrophy(X-ALD)is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1(ABCD1)*** study aimed to retrospectively investigate the clinical characteristics of 25 patients with X-ALD including members of large pedigrees,to analyze ABCD1 gene mutations,the effect of gene novel variants on ALD protein(ALDP)structure and function,and to expand gene mutation spectrum of Chinese ***:Twenty-five male patients diagnosed with X-ALD were enrolled in this *** clinical characteristics of the patients were retrospectively summarized by reviewing medical records or telephone ***1 gene mutations were *** pathogenicity of novel missense variants was analyzed using cobalt constraint-based multiple protein alignment tool,polymorphism phenotyping,sorting intolerant from tolerant,Align-Grantham variation and Grantham deviation,and Swiss-Program Database Viewer 4.04 software,***:Childhood cerebral form ALD(CCALD)is the most common phenotype(64%)in the 25 patients with *** progressive deterioration of neurological and cognitive functions is the main clinical *** demyelination of the brain white matter and elevated plasma very long chain fatty acids(VLCFAs)were found in all *** phenotypes were also presented within family members of the ***-two different mutations including 8 novel mutations in the ABCD1 gene were identifi ed in the 25 *** the mutations,63.6%were missense mutations and 34.8%located in exon *** amino acid residues of three novel missense mutations in eight species were highly conserved,and were predicted to be"probably"damaging to ALDP *** other five novel mutations were splice,nonsense,deletion or duplication ***:CCALD is the most common phenotype(64%)in our patients with *** novel mutations in the ABCD1 gene identifi ed are disease-causing muta

关键词： ABCD1 protein adrenoleukodystrophy adrenoleukodystrophy protein missense variant mutation

clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia:identification of ten novel allelic variants

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World Journal of pediatrics 2015年第4期11卷 358-365页

作者： Lian-Shu Han Zhuo Huang Feng Han Jun Ye Wen-Juan Qiu Hui-Wen Zhang Yu Wang Zhu-Wen Gong Xue-Fan Gu Department of pediatric Endocrinology and Genetic Metabolism Xinhua HospitalShanghai Institute for Pediatric ResearchShanghai Jiaotong University School of MedicineShanghaiChina

Background: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT gene was amplifi ed by polymerase chain reaction and directly sequenced. Those patients with at least one variant allele were included. The novel missense mutations were assessed by bioinformatic analysis and screened against alleles sequenced from 50 control participants. Results: Among the 43 patients, 38 had typical clinical presentations, and the majority (30/38) experienced early-onset MMA. Eight patients died and seven were lost to follow-up. Twenty patients had poor outcomes and eight showed normal development. The 43 identified MUT gene mutations had at least one variant allele, whereas 35 had two mutant alleles. Of the 33 mutations reported before, eight recurrent mutations were identified in 32 patients, and c.729_730insTT (p.D244Lfs*39) was the most common (12/78) in the mutant alleles. Of the 10 novel mutations, six were missense mutations and four were premature termination codon mutations. The six novel missense mutations seemed to be pathogenic. Conclusions: A total of 10 novelMUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.

关键词： methylmalonic acidemia missense mutation MUT gene

Primary and secondary postoperative hemorrhage in pediatric tonsillectomy

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World Journal of clinical Cases 2021年第7期9卷 1543-1553页

作者： Bin Xu Hai-Yan Jin Ke Wu Cao Chen Li Li Yang Zhang Wei-Zhong Gu Chao Chen Department of Otorhinolaryngology-Head and Neck Surgery The Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthNational Children's Regional Medical CenterHangzhou 310052Zhejiang ProvinceChina Department of Anesthesiology The Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthNational Children's Regional Medical CenterHangzhou 310052Zhejiang ProvinceChina Department of Operating Room The Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthNational Children's Regional Medical CenterHangzhou 310052Zhejiang ProvinceChina Department of Pathology The Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthNational Children's Regional Medical CenterHangzhou 310052Zhejiang ProvinceChina Department of Radiology The Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthNational Children's Regional Medical CenterHangzhou 310052Zhejiang ProvinceChina

Tonsillectomy is the most common procedure for treatment of pediatric recurrent acute tonsillitis and tonsillar enlargement that contributes to obstructive sleep apnea hypopnea *** hemorrhage of tonsillectomy is a lifethreatening *** To identify the risk factors that may contribute to primary and secondary postoperative hemorrhage in pediatric *** The clinical data from 5015 children,3443 males and 1572 females,aged 1.92-17.08 years,with recurrent tonsillitis and/or tonsil hypertrophy who underwent tonsillectomy in our hospital from January 2009 to December 2018 were retrospectively *** variables including sex,age,time of onset,diagnosis,method of tonsillectomy,experience of surgeon,time when the surgery started and monthly average air temperature were *** patients with postoperative hemorrhage were classied into two groups,the primary bleeding group and the secondary bleeding group,and their characteristics were compared with those of the nonbleeding group *** analysis was performed by chi-square test with SPSS *** Ninety-two patients had post-tonsillectomy hemorrhage,and the incidence rate of post-tonsillectomy hemorrhage was 1.83%.The mean age was 5.75 *** of primary hemorrhage accounted for approximately 33.70%(31/92),and cases of secondary hemorrhage occurred in 66.30%(61/92).The rate of reoperation for bleeding was 0.92%,and the rate of rehospitalization for bleeding was 0.88%in all *** hemostasis surgery was performed in 6.52%(3/46)of *** method of tonsillectomy(coblation tonsillectomy)and experience of the surgeon(junior surgeon with less than 5 years of experience)were significantly associated with primary hemorrhage(χ^(2)=5.830,P=0.016,χ^(2)=6.621,P=0.010,respectively).Age(over 6 years old)and time of onset(more than a 1-year history)were significantly associated with secondary hemorrhage(χ^(2)=15.242,P=0.000,χ^(2)=4.293,P=0.038,

关键词： Postoperative hemorrhage Tonsillitis Sleep apnea Obstructive Tonsillectomy Child

clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

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World Journal of pediatrics 2014年第2期10卷 119-125页

作者： Rui-Nan Zhang Yi-Fan Li Wen-Juan Qiu Jun Ye Lian-Shu Han Hui-Wen Zhang Na Lin Xue-Fan Gu Department of pediatric Endocrinology and Genetic Metabolism and Shanghai Institute for pediatric research Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

Background:Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase(VLCAD),and which can present as cardiomyopathy in neonates,as hypoketotic hypoglycemia in infancy,and as myopathy in late-onset *** many ACADVL mutations have been described,no prevalent mutations in the ACADVL gene have been associated with ***,we report the clinical course of the disease and explore the genetic mutation spectrum in seven Chinese patients with ***:Seven Chinese patients,from newborn to 17 years old,were included in this *** mass spectrometry was performed to screen for VLCAD defi *** exons and fl anking introns of the ACADVL gene were analyzed using polymerase chain reaction and direct *** analysis tools were used to predict the impact of novel ***:All cases had elevated serum levels of tetradecanoylcarnitine(C14:1)which is the characteristic biomarker for *** phenotype of VLCADD is *** patients were hospitalized for hypoactivity and hypoglycemia shortly after *** patients showed hepatomegaly and hypoglycemia in *** other two adolescent patients showed initial manifestations of exercise intolerance or *** of the patients died at the age of 6-8 *** different mutations in the ACADVL gene in the 7 patients were identified,including seven reported mutations(p.S22X,p.W427X,p.A213T,p.G222R,p.R450H,c.296-297delCA,c.1605+1G>T)and four novel mutations(p.S72F,p.Q100X,p.M437T,p.D466Y).The p.R450H and p.D466Y(14.28%,2/14 alleles)mutations were identifi ed in two alleles ***:The clinical manifestations were heterogeneous and ACADVL gene mutations were heterozygous in the seven VLCADD Chinese patients.R450H may be a relatively common mutation in Asian *** genotype and phenotype had a cert

关键词： follow-up mutation very long chain acyl-CoA dehydrogenase VLCAD deficiency treatment

pediatric appendicitis with appendicolith often presents with prolonged abdominal pain and a high risk of perforation

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World Journal of pediatrics 2018年第2期14卷 184-190页

作者： Hee Mang Yoon Jung Heon Kim Jong Seung Lee Jeong-Min Ryu Dae Yeon Kim Jeong-Yong Lee Department of Radiology and research Institute of Radiology Asan Medical CenterUniversity of Ulsan College of MedicineSeoul 05505South Korea Department of Emergency Medicine Asan Medical CenterUniversity of Ulsan College of MedicineSeoul 05505South Korea Department of pediatric Surgery Asan Medical CenterUniversity of Ulsan College of MedicineSeoul 05505South Korea Department of pediatrics Asan Medical CenterUniversity of Ulsan College of Medicine88Olympic-ro 43-gilSongpa-guSeoul 05505South Korea

Background Appendicolith can cause appendiceal obstruction and acute *** high prevalence may be related to the high perforation rate in pediatric *** study assessed the characteristics of appendicolith and its clinical significance in pediatric *** A retrospective study was performed among children and adolescents younger than 17 years who were preopera-tively diagnosed with appendicitis in the pediatric emergency department(ed).A total of 269 patients with a mean age of 9.98±3.37 years were *** features and contrast-enhanced computed tomography findings were *** Among the 269 patients,147(54.6%)had appendicoliths,with a mean maximal diameter of 5.21±2.34 ***-pared to the no appendicolith group,the appendicolith group demonstrated more prolonged abdominal pain(≥48 hours)before the ed visit(23.1%vs.11.5%;P=0.013),clinical features of severe appendicitis(presence of fever,vomiting,posi-tive urine ketone,and increased C-reactive protein),and higher rate of perforation(43.5%vs.9.8%;Ped appendicitis in the appendicolith group revealed that maximal diameter of 5 mm or more in the appendicolith(adjusted odds ratio[aOR]2.919;95%CI 1.325-6.428,P=0.008)and proximal collapse adjacent to the appendicolith(aOR 2.943;95%CI 1.344-6.443,P=0.007)were *** pediatric appendicitis with appendicolith often presents with prolonged abdominal pain and severe clinical conditions with a high risk of perforation.

关键词： Appendicitis Appendicolith Computed tomography pediatrics Risk factors