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World Journal of diabetes 2023年第7期14卷 1137-1145页

作者： Guang-Hong Zhou Min Tao Qing Wang Xing-Yu Chen Jing Liu Li-Li Zhang Department of Endocrinology The Second Affiliated HospitalChongqing Medical UniversityChongqing 400010China

BACKGROUND maturity-onset diabetes of the young(MODY)is a monogenic genetic disease often clinically misdiagnosed as type 1 or type 2 *** type 9(MODY9)is a rare subtype caused by mutations in the PAX4 ***,there are limited reports on PAX4-MODY,and its clinical characteristics and treatments are still *** this report,we described a Chinese patient with high autoimmune antibodies,hyperglycemia and a site mutation in the PAX4 *** SUMMARY A 42-year-old obese woman suffered diabetes ketoacidosis after consuming substantial amounts of *** had never had diabetes before,and no one in her family had ***,her autoantibody tested positive,and she managed her blood glucose within the normal range for 6 mo through lifestyle ***,her blood glucose gradually ***-generation sequencing and Sanger sequencing were performed on her *** results revealed that she and her mother had a heterozygous mutation in the PAX4 gene(c.314G>A,p.R105H),but her daughter did *** patient is currently taking liraglutide(1.8 mg/d),and her blood glucose levels are under *** cases were retrieved from PubMed to investigate the relationship between PAX4 gene mutations and *** We reported the first case of a PAX4 gene heterozygous mutation site(c.314G>A,p.R105H),which does not appear pathogenic to MODY9 but may facilitate the progression of latent autoimmune diabetes in adults.

关键词： maturity-onset diabetes of the young PAX4 Latent autoimmune diabetes in adults Type 1 diabetes Case report

Corticosteroid-induced bradycardia in multiple sclerosis and maturity-onset diabetes of the young due to hepatocyte nuclear factor 4-alpha mutation:A case report

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World Journal of Clinical Cases 2022年第21期10卷 7415-7421页

作者： Sung-Yeon Sohn Shin Yeop Kim In Soo Joo Department of Neurology Ajou University School of MedicineAjou University Medical CenterSuwon 16499South Korea

BACKGROUND Intravenous steroid pulse therapy is the treatment of choice for acute exacerbation of multiple sclerosis(MS).Although steroid administration is generally welltolerated,cases of cardiac arrhythmia have been ***,we describe a young woman who developed marked sinus bradycardia and T-wave abnormalities after corticosteroid *** also present plausible explanations for the abnormalities observed in this *** SUMMARY An 18-year-old woman experienced vertiginous dizziness and binocular diplopia 1 wk prior to *** examination revealed left internuclear ophthalmoplegia with left peripheral-type facial *** initial laboratory results were consistent with those of type 2 *** magnetic resonance imaging revealed multifocal,non-enhancing,symptomatic lesions and multiple enhancing *** was diagnosed with MS and maturity-onset diabetes of the *** methylprednisolone was *** day 5 after methylprednisolone infusion,marked bradycardia with T-wave abnormalities were *** evaluation to elucidate the underlying conditions revealed a hepatocyte nuclear factor 4-alpha(HNF4A)gene *** treatment was discontinued under suspicion of corticosteroid-induced *** electrocardiogram changes returned to normal without complications two days after steroid *** Corticosteroid-induced bradycardia may have a significant clinical impact,especially in patients with comorbidities,such as HNF4A mutations.

关键词： Steroids Bradycardia Multiple sclerosis maturity-onset diabetes of the young Hepatocyte nuclear factor 4-alpha Case report

Novel HNF1A gene mutation in maturity-onset diabetes of the young:A case report

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World Journal of Clinical Cases 2022年第6期10卷 1909-1913页

作者： Qian Xu Cheng-Xia Kan Ning-Ning Hou Xiao-Dong Sun Department of Endocrinology and Metabolism Clinical Research CenterThe Affiliated Hospital of Weifang Medical UniversityWeifang 261031Shandong ProvinceChina

BACKGROUND maturity-onset diabetes of the young 3(MODY3),caused by mutations in the HNF1A gene,is the most common subtype of *** diagnosis of MODY3 is critical because a low dose of sulfonylurea agents can achieve glucose *** SUMMARY We describe a patient with MODY3 involving a novel splicing mutation,in whom low-dose gliclazide was sufficient to control clinically significant *** sequencing identified a splicing HNF1A mutation in 12q24 NM_000545.5 Intron5 c.1108-1G>*** control has been maintained without insulin therapy for 28 mo after the diagnosis of *** This case report highlights a novel HNF1A gene mutation in MODY3 that is responsive to sulfonylurea therapy.

关键词： maturity-onset diabetes of the young diabetes HNF1A Genetics Case report

Novel gene mutation in maturity-onset diabetes of the young:A case report

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World Journal of Clinical Cases 2023年第5期11卷 1099-1105页

作者： Na Zhang Hui Zhao Cui Li Feng-Zhi Zhang Department of Endocrinology Liaocheng Third People's HospitalLiaocheng 252000Shandong ProvinceChina Department of Endocrinology Binzhou Central HospitalBinzhou 251700Shandong ProvinceChina

BACKGROUND maturity-onset diabetes of the young(MODY)is the most common monogenic type of ***,14 gene mutations have been found to be associated with *** addition,the KLF11 gene mutation is the pathogenic gene of *** date,the clinical and functional characteristics of the novel KLF11mutation c.G31A have not yet been *** SUMMARY We report of a 30-year-old male patient with a one-year history of nonketosisprone diabetes and a 3-generation family history of *** patient was found to carry a KLF11 gene ***,the clinical data of family members were collected and investigated.A total of four members of the family were found to have heterozygous mutations in the KLF11 gene c.G31A,which resulted in a change in the corresponding amino acid *** patients had diabetes mellitus,and one patient had impaired glucose *** The heterozygous mutation of the KLF11 gene c.G31A(p.D11N)is a new mutation site of ***,the main treatment included dietary interventions and oral drugs.

关键词： maturity-onset diabetes of the young MODY7 KLF11 gene mutation Precise treatment Case report

Prevalence of maturity-onset diabetes of the young in phenotypic type 2 diabetes in young adults:a nationwide,multi-center,cross-sectional survey in China

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Chinese Medical Journal 2023年第1期136卷 56-64页

作者： Yan Chen Jing Zhao Xia Li Zhiguo Xie Gan Huang Xiang Yan Houde Zhou Li Zheng Tao Xu Kaixin Zhou Zhiguang Zhou National Clinical Research Center for Metabolic Diseases Key Laboratory of Diabetes Immunology(Central South University)Ministry of Educationand Department of Metabolism and EndocrinologyThe Second Xiangya Hospital of Central South UniversityChangshaHunan 410011China College of Life Sciences The University of Chinese Academy of SciencesBeijing 100049China National Laboratory of Biomacromolecules CAS Center for Excellence in BiomacromoleculesInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China Shandong First Medical University and Shandong Academy of Medical Sciences JinanShandong 271016China

Background:maturity-onset diabetes of the young(MODY)is the most common monogenic *** aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes(T2DM)among Chinese young ***:From April 2015 to October 2017,this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China,newly diagnosed between 15 years and 45 years,with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core *** using a custom monogenic diabetes gene panel was performed,and variants of 14 MODY genes were interpreted as per current ***:The survey determined 18 patients having genetic variants causing MODY(6 HNF1A,5 GCK,3 HNF4A,2 INS,1 PDX1,and 1 PAX4).The prevalence of MODY was 0.74%(95%confidence interval[CI]:0.40-1.08%).The clinical characteristics of MODY patients were not specific,72.2%(13/18)of them were diagnosed after 35 years,47.1%(8/17)had metabolic syndrome,and only 38.9%(7/18)had a family history of *** significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY ***:The prevalence of MODY in young adults with phenotypic T2DM was 0.74%,among which HNF1A-,GCK-,and HNF4A-MODY were the most common *** features played a limited role in the recognition of MODY.

关键词： maturity-onset diabetes of the young Type 2 diabetes young adults

Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

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World Journal of diabetes 2024年第2期15卷 275-286页

作者： Ping Shi Yang Tian Feng Xu Lu-Na Liu Wan-Hong Wu Ying-Zhou Shi An-Qi Dai Hang-Yu Fang Kun-Xia Li Chao Xu Department of Endocrinology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021Shandong ProvinceChina Department of Pediatric Yantai Yuhuangding Hospital Affiliated to Qingdao UniversityYantai 264099Shandong ProvinceChina

BACKGROUND Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1(APPL1)plays a crucial role in regulating insulin signaling and glucose *** in the APPL1 gene have been associated with the development of maturity-onset diabetes of the young type 14(MODY14).Currently,only two mutations[c.1655T>A(***552*)and c.281G>A p.(Asp94Asn)]have been identified in association with this *** the limited understanding of MODY14,it is imperative to identify additional cases and carry out comprehensive research on MODY14 and APPL1 *** To assess the pathogenicity of APPL1 gene mutations in diabetic patients and to characterize the functional role of the APPL1 *** Patients exhibiting clinical signs and a medical history suggestive of MODY were screened for the *** exome sequencing was performed on the patients as well as their family *** pathogenicity of the identified APPL1 variants was predicted on the basis of bioinformatics *** addition,the pathogenicity of the novel APPL1 variant was preliminarily evaluated through in vitro functional ***,the impact of these variants on APPL1 protein expression and the insulin pathway were assessed,and the potential mechanism underlying the interaction between the APPL1 protein and the insulin receptor was further *** A total of five novel mutations were identified,including four missense mutations(Asp632Tyr,Arg633His,Arg532Gln,and Ile642Met)and one intronic mutation(1153-16A>T).Pathogenicity prediction analysis revealed that the Arg532Gln was pathogenic across all *** Asp632Tyr and Arg633His variants also had pathogenicity based on *** addition,multiple alignment of amino acid sequences showed that the Arg532Gln,Asp632Tyr,and Arg633His variants were conserved across different ***,in in vitro functional experiments,both the c.1894G>T(at Asp632Tyr)and c.1595G>A(at Arg532Gln)mutations

关键词： Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1 maturity-onset diabetes of the young Bioinformatics analysis Gene mutation Domain

Monogenic diabetes in children:An underdiagnosed and poorly managed clinical dilemma

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World Journal of diabetes 2024年第6期15卷 1051-1059页

作者： Saptarshi Bhattacharya Joseph M Pappachan Department of Endocrinology Indraprastha Apollo HospitalsDelhi 110076India Department of Endocrinology and Metabolism Lancashire Teaching Hospitals NHS TrustPreston PR29HTUnited Kingdom Faculty of Science Manchester Metropolitan UniversityManchester M156BHUnited Kingdom Faculty of Biology Medicine and HealthThe University of ManchesterManchester M139PLUnited Kingdom

Monogenic diabetes,constituting 1%-2%of global diabetes cases,arises from single gene defects with distinctive inheritance *** over 50 associated genetic disorders,accurate diagnoses and management of monogenic diabetes remain inadequate,underscoring insufficient clinician *** disease spectrum encompasses maturity-onset diabetes of the young(MODY),characterized by distinct genetic mutations affecting insulin secretion,and neonatal diabetes mellitus(NDM)-a heterogeneous group of severe hyperglycemic disorders in *** diabetes,autoimmune monogenic diabetes,genetic insulin resistance and lipodystrophy syndromes further diversify the monogenic diabetes landscape.A tailored approach based on phenotypic and biochemical factors to identify candidates for genetic screening is recommended for suspected cases of *** diagnosis warrants immediate molecular genetic testing for infants under six *** these genetic defects presents a unique opportunity for precision *** research aimed to develop cost-effective genetic testing methods and gene-based therapy can facilitate appropriate identification and optimize clinical *** and study of new genes offer a valuable opportunity to gain deeper insights into pancreatic cell biology and the pathogenic mechanisms underlying common forms of *** clinical review published in the recent issue of World Journal of diabetes is such an attempt to fill-in our knowledge gap about this enigmatic disease.

关键词： Monogenic diabetes maturity-onset diabetes of the young Neonatal diabetes Mitochondrial diabetes Insulin resistance syndromes Genetic testing Next generation sequencing

Management of monogenic diabetes in pregnancy:A narrative review

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World Journal of diabetes 2024年第1期15卷 15-23页

作者： Mohammad Sadiq Jeeyavudeen Sarah R Murray Mark W J Strachan Metabolic Unit Western General HospitalEdinburgh EH42XUUnited Kingdom MRC Centre for Reproductive Health University of Edinburgh Queen’s Medical Research InstituteEdinburgh EH164TJUnited Kingdom

Pregnancy in women with monogenic diabetes is potentially complex,with significant implications for both maternal and fetal *** these,maturity-onset diabetes of the young(MODY)stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical *** subtype of MODY requires a distinct approach tailored to the pregnancy,diverging from management strategies in non-pregnant *** MODY(GCK-MODY)typically does not require treatment outside of pregnancy,but special considerations arise when a woman with GCK-MODY becomes *** glycemic targets in GCK-MODY pregnancies are not exclusively dictated by the maternal/paternal MODY genotype but are also influenced by the genotype of the developing *** pregnancy,the choice between sulfonylurea or insulin for treating hepatocyte nuclear factor 1-alpha(HNF1A)-MODY and HNF4A-MODY depends on the mother’s specific circumstances and the available *** of other rarer MODY subtypes is individu-alized,with decisions made on a case-by-case ***,a collaborative approach involving expert diabetes and obstetric teams is crucial for the compre-hensive management of MODY pregnancies.

关键词： diabetes Pregnancy maturity-onset diabetes of the young Insulin Sulphonylurea Glucokinase Hepatocyte nuclear factor 1-alpha,hepatocyte nuclear factor 1-beta,and hepatocyte nuclear factor 4-alpha

Analysis of an adult diabetes mellitus caused by a rare mutation of the gene:A case report

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World Journal of Clinical Cases 2024年第19期12卷 3942-3949页

作者： Wen-Xuan Li Li-Li Xu Chuan-Feng Liu Bing-Zi Dong Yun-Yang Wang Department of Endocrine and Metabolic Diseases The Affiliated Hospital of Qingdao UniversityQingdao 266003Shandong ProvinceChina

BACKGROUND This study presents the clinical and genetic mutation characteristics of an unusual case of adult-onset diabetes mellitus occurring in adolescence,featuring a unique mutation in the peroxisome proliferator-activated receptor gamma(PPARG)*** Access Statement:Research data supporting this publication are available from the NN repository at ***/download/.CASE SUMMARY The methodology employed entailed meticulous collection of comprehensive clinical data from the probands and their respective family ***,high-throughput sequencing was conducted to analyze the PPARG genes of the patient,her siblings,and their *** results of this investigation revealed that the patient initially exhibited elevated blood glucose levels during pregnancy,accompanied by insulin resistance and ***,these strains displayed increased susceptibility to diabetic kidney disease without any discernible aggregation *** results from the gene detection process demonstrated a heterozygous mutation of guanine(G)at position 284 in the coding region of exon 2 of PPARG,which replaced the base adenine(A)(exon2c.284A>***95Cys).This missense mutation resulted in the substitution of tyrosine with cysteine at the 95th position of the translated ***,both of her siblings harbored a nucleotide heterozygous variation at the same site,and both were diagnosed with *** The PPARG gene mutation,particularly the ***95Cys mutation,may represent a newly identified subtype of maturity-onset diabetes of the *** subtype is characterized by insulin resistance and lipid metabolism disorders.

关键词： diabetes Gene mutation maturity-onset diabetes of the young Peroxisome proliferator-activated receptor gamma Lipid metabolism

Genetic perspectives on childhood monogenic diabetes:Diagnosis,management,and future directions

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World Journal of diabetes 2023年第12期14卷 1738-1753页

作者： Hong-Yan Sun Xiao-Yan Lin Department of Endocrine and Metabolic Diseases Yantaishan HospitalYantai 264003Shandong ProvinceChina

Monogenic diabetes is caused by one or even more genetic variations, which maybe uncommon yet have a significant influence and cause diabetes at an early *** diabetes affects 1 to 5% of children, and early detection and geneticallyfocused treatment of neonatal diabetes and maturity-onset diabetes of theyoung can significantly improve long-term health and well-being. The etiology ofmonogenic diabetes in childhood is primarily attributed to genetic variationsaffecting the regulatory genes responsible for beta-cell activity. In rare instances,mutations leading to severe insulin resistance can also result in the developmentof diabetes. Individuals diagnosed with specific types of monogenic diabetes,which are commonly found, can transition from insulin therapy to sulfonylureas,provided they maintain consistent regulation of their blood glucose *** have successfully devised materials and methodologies to distinguishindividuals with type 1 or 2 diabetes from those more prone to monogenicdiabetes. Genetic screening with appropriate findings and interpretations isessential to establish a prognosis and to guide the choice of therapies andmanagement of these interrelated ailments. This review aims to design a comprehensiveliterature summarizing genetic insights into monogenetic diabetes inchildren and adolescents as well as summarizing their diagnosis and management.

关键词： Monogenic diabetes maturity-onset diabetes of the young Insulin resistance Genetic mutation Beta-cell function