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An updated review on activated PI3 kinase delta syndrome(APDS)

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Genes & Diseases 2020年第1期7卷 67-74页

作者： Ankita Singh Vibhu Joshi Ankur Kumar Jindal Babu Mathew Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency *** has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and *** with APDS syndrome have significant autoimmune manifestations and *** is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd *** provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.

关键词： Activated phosphoinositide 3-kinase d syndrome(APDS) Gain of function Immunodeficiency Lymphadenopathy Lymphoproliferation p110d-activating mutation causing senescent T cells

Recent advances in elucidating the genetics of common variable immunodeficiency

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Genes & Diseases 2020年第1期7卷 26-37页

作者： Vaishali Aggarwal Aaqib Zaffar Banday Ankur Kumar Jindal Jhumki Das Amit Rawat Allergy and Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency *** with CVID have highly variable clinical *** the advent of whole genome sequencing and genome wide association studies(GWAS),there has been a remarkable improvement in understanding the genetics of *** has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients.A multiomics approach integrating the DNA sequencing along with RNA sequencing,proteomics,epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic *** this review,we elaborate various techniques that have helped in understanding the genetics of CVID.

关键词： Common variable immunodeficiency(CVID) Epigenome Genetics Next generation sequencing(NGS) Transcriptome

An update on the genetics and pathogenesis of hereditary angioedema

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Genes & Diseases 2020年第1期7卷 75-83页

作者： Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and *** pathogenesis of HAE reflects an intricate coordinated regulation of components of complement,kinin and hemostatic *** date,mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1(SERPING1),factor XII(F12),plasminogen(PLG)and angiopoietin 1(ANGPT 1).These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial *** this review we aim to summarize the recent advances in the pathogenesis and genetics of *** also provide an overview of possible future prospects in the identification of new genetic defects in HAE.

关键词： Angiopoietin 1 C1 inhibitor Factor XII Genetics Hereditary angioedema Plasminogen

Genetics of severe combined immunodeficiency

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Genes & Diseases 2020年第1期7卷 52-61页

作者： Rajni Kumrah Pandiarajan Vignesh Pratap Patra Ankita Singh Gummadi Anjani Poonam Saini Madhubala Sharma Anit Kaur Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Severe Combined Immunodeficiency(SCID)is an inherited group of rare,lifethreatening disorders due to the defect in T cell development and *** manifestations are characterised by recurrent and severe bacterial,viral,and fungal opportunistic infections that start from early infancy *** stem cell transplantation(HSCT)is the treatment of *** pattern of inheritance of SCID may be X-linked or autosomal *** the diagnosis of SCID is usually established by flow cytometry-based tests,genetic diagnosis is often needed for genetic counselling,prognostication,and modification of pre-transplant chemotherapeutic *** review aims to highlight the genetic aspects of SCID.

关键词： Adenosine deaminase Flow cytometry Genetics Newborn screening Severe combined immunodeficiency

Epilepsy in Prader-Willi syndrome:clinical,diagnostic and treatment aspects

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World Journal of pediatrics 2014年第2期10卷 108-113页

作者： Alberto Verrotti Claudia Soldani Daniela Laino Renato d'Alonzo Salvatore Grosso Department of pediatrics University of PerugiaSant'Andrea delle FrattePerugiaItaly Department of pediatrics University of SienaItaly

Background:Epilepsy associated with Prader-Willi syndrome(PWS)represents an early and important complication,often not clearly reported and described in the ***,there are controversial data about the clinical characteristics of epilepsy and electroencephalographic(EEG)abnormalities found in these *** sources:Based on recent original publications,we have reviewed the different types of seizures and EEG findings in PWS patients,the response to antiepileptic treatment,and the prognosis of ***:The frequency of epilepsy in PWS patients ranges from 4%to 26%.The types of seizure include generalized tonic-clonic seizures,complex partial seizures,atypical absence,staring spells,and myoclonic,tonic and hemiclonic seizures,but the most frequent type is focal *** epilepticus has never been *** abnormalities are not typical but variable in different ***,generalized and focal discharges are the most frequently reported *** is no evidence of relationship between the course of epilepsy and frequency,morphology and spread of EEG ***,epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good ***:The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these *** studies are needed to confirm the good long-term prognosis.

关键词： epilepsy Prader-Willi syndrome prognosis

Predictive scores for mortality in full-term infants with necrotizing enterocolitis: experience of a tertiary hospital in Southwest China

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World Journal of pediatrics 2016年第2期12卷 202-208页

作者： Yu Zhang Ji-Kun Ma Hong Wei Xiao-Wen Li Lu-Quan Li Jia-Lin Yu Department of Neonatology Children's Hospital of Chongqing Medical UniversityMinistry of Education Key Laboratory of Child Development and DisordersKey Laboratory of Pediatrics in Chongqing and Chongqing International Science and Technology Cooperation Center for Child Development and DisordersChongqingChina

Background: Although many risk factors for mortalityof necrotizing enterocolitis (NEC) were investigated,most of them were obtained from preterm infants, andfew works focused on the prognostic risk factors in fullterminfants. This study aimed to identify risk factors anddevelop a prediction score model for mortality in fulltermneonates with ***: The risk factors were analyzed retrospectivelyby bivariate and multivariate logistic regression analysis in153 full-term neonates with NEC, who were hospitalizedin Children's Hospital of Chongqing Medical Universityfrom 2000 to 2013. A prediction score model was developedaccording to the regression coeffi cients of risk ***: The mortality of the infants was 19.6%(30/153). The non-survivors had a younger age of diagnosisand advanced stage of NEC (Plaboratoryindicators than survivors (P<0.05). Age at diagnosis [oddsratio (OR)=0.91, 95% confidence interval (CI)=0.836-0.99], respiratory failure (OR=2.76, 95% CI=1.10-6.92),and peritonitis (OR=26.36, 95% CI=7.52-173.92) hadsignificant independent contributions to death. A scoremodel predicting death was developed, and the area underthe receiver operating characteristic curve was 0.869 (95%CI=0.803-0.935). All infants with scores ≥8 ***: Younger age at diagnosis, peritonitis,and respiratory failure might be risk factors for themortality of full-term infants with NEC. Infants with apredictive score of 8 were at high risk for death.

关键词： necrotizing enterocolitis neonate predictive score model prognosis

Infliximab treatment of glycogenosis Ib with Crohn's-like enterocolitis: A case report

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World Journal of Clinical Cases 2021年第19期9卷 5280-5286页

作者： You-Zhe Gong Xue-Mei Zhong Ji-Zhen Zou Gastroenterology Department Capital Institute of PediatricsBeijing 100020China Pathology Department Capital Institute of PediatricsBeijing 100020China

BACKGROUND Glycogen storage disease type Ib(GSD-Ib)is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease(IBD),especially Crohn’s disease(CD)-like *** biological agents are effective for treating CD,their application in the treatment of GSD-Ib with CD-like colitis has been rarely *** SUMMARY A 13-year-old Han male was diagnosed with GSD-Ib with *** patient was treated with granulocyte colony-stimulating *** he had symptoms of CD-like colitis,he was continuously pumped with enteral nutrition and administered oral mesalazine for 2 wk;however,the symptoms did not improve ***,infliximab(IFX)was ***,the patient has been followed up for 1 year,and no clinical manifestations have been *** 6 mo of treatment(fifth IFX treatment),the disease activity index and all inflammatory indexes decreased,and a review of the colonoscopy data showed that the ulcers appeared *** In this study,the patient was successfully treated with *** cases of GSD-Ib,IBD should be highly considered.

关键词： Crohn’s disease Glycogen storage disease type I Treatment Infliximab Case report

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

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World Journal of Clinical Cases 2021年第12期9卷 2916-2922页

作者： Zhong-Yang Ma Xue Yang Department of pediatrics Key Laboratory of Birth Defects and Related Diseases of Women and ChildrenWest China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina

BACKGROUND The understanding regarding genetic variation,pathophysiology,and complications associated with pyruvate kinase deficiency(PKD)in red blood cells has been explained largely,and supportive treatment is currently the main management *** managements,including transplantation and genome editing,supplying for substitute dugs of the pyruvate kinase,are all under *** SUMMARY We herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation(PBSCT).Hemoglobin was corrected to a normal level by gene correction after PBSCT,with no complication related to the *** Hematopoietic stem cell transplantation could be a substitute for transfusiondependent PKD.

关键词： Pyruvate kinase deficiency Transfusions Hematopoietic stem cell transplantation Peripheral blood stem cells Peripheral blood stem cell transplantation Case report

Genetics on early onset inflammatory bowel disease:An update

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Genes & Diseases 2020年第1期7卷 93-106页

作者： Johnson Nameirakpam Rashmi Rikhi Sanjay Singh Rawat Jyoti Sharma Deepti Suri Pediatric Allergy and Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Inflammatory bowel disease(IBD)is more common in adults than in *** of IBD before 17 years of age is referred as pediatric onset IBD and is further categorized as very early onset IBD(VEO-IBD)for children who are diagnosed before 6 years of age,infantile IBD who had the disease before 2 years of age and neonatal onset IBD for children less than 28 days of *** presenting with early onset disease may have a monogenic *** and awareness of the clinical manifestations facilitates early evaluation and *** generation sequencing is helpful in making the genetic *** of childhood IBD is difficult;targeted therapies and hematopoietic stem cell transplantation form the *** this review we aim to summarize the genetic defects associated with IBD *** describe genetic location and functions of various genetic defect associated with VEO-IBD with their key clinical *** also provide clinical clues to suspect these conditions and approaches to the diagnosis of these disorders and suitable treatment options.

关键词： Il-10 signalling defect IPEX Next generation sequencing Targeted therapy Very early onset inflammatory bowel disease