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Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1

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Frontiers of Medicine 2024年第1期18卷 180-191页

作者： Fang Wang Yuxing Liu Yi Dong Meifang Zhao Hao Huang Jieyuan Jin Liangliang Fan Rong Xiang Department of endocrinology The Third Xiangya Hospital of Central South UniversityChangsha410013China Department of Cellular Biology School of Life SciencesKey Laboratory of Pediatric Rare DiseasesMinistry of EducationCentral South UniversityChangsha410013China

Lipin proteins including Lipin 1–3 act as transcriptional co-activators and phosphatidic acid phosphohydrolase enzymes,which play crucial roles in lipid ***,little is known about the function of Lipin3 in triglyceride(TG)***,we identified a novel mutation(NM_001301860:p.1835A>T/p.D612V)of Lipin3 in a large family with hypertriglyceridemia(HTG)and obesity through whole-exome sequencing and Sanger *** studies revealed that the novel variant altered the half-life and stability of the Lipin3 ***,we generated Lipin3 heterozygous knockout(Lipin3-heKO)mice and cultured primary hepatocytes to explore the pathophysiological roles of Lipin3 in TG *** found that Lipin3-heKO mice exhibited obvious obesity,HTG,and non-alcoholic fatty liver *** study demonstrated that the haploinsufficiency of Lipin3 in primary hepatocytes may induce the overexpression and abnormal distribution of Lipin1 in cytosol and *** increased expression of Lipin1 in cytosol may contribute to TG anabolism,and the decreased Lipin1 in nucleoplasm can reduce PGC1α,further leading to mitochondrial dysfunction and reduced TG *** study suggested that Lipin3 was a novel disease-causing gene inducing obesity and *** also established a relationship between Lipin3 and mitochondrial dysfunction.

关键词： Lipin3 Lipin1 hypertriglyceridemia obesity mitochondrial dysfunction

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

Challenges and pitfalls of youth-onset type 2 diabetes

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World Journal of diabetes 2024年第5期15卷 876-885页

作者： Lavinia La Grasta Sabolic Sanda Marusic Maja Cigrovski Berkovic Department of pediatric endocrinology and Diabetology University Hospital Centre Sestre MilosrdniceZagreb 10000Croatia School of Medicine Catholic University of CroatiaZagreb 10000Croatia Department for Sport and Exercise Medicine University of Zagreb Faculty of KinesiologyZagreb 10000Croatia

The incidence and prevalence of youth-onset type 2 diabetes mellitus(T2DM)are *** rise in frequency and severity of childhood obesity,inclination to sedentary lifestyle,and epigenetic risks related to prenatal hyperglycemia exposure are important drivers of the youth-onset T2DM epidemic and might as well be responsible for the early onset of diabetes ***,youth-onset T2DM has a more extreme metabolic phenotype than adult-onset T2DM,with greater insulin resistance and more rapid deterioration of beta cell ***,intermediate complications such as microalbuminuria develop in late childhood or early adulthood,while end-stage complications develop in *** to the lack of efficacy and safety data,several drugs available for the treatment of adults with T2DM have not been approved in youth,reducing the pharmacological treatment *** this mini review,we will try to address the present challenges and pitfalls related to youth-onset T2DM and summarize the available interventions to mitigate the risk of microvascular and macrovascular complications.

关键词： Youth-onset type 2 diabetes mellitus Insulin resistance Beta cell failure Risk factors Therapy Complications

Patient-centered care in diabetes care-concepts,relationships and practice

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World Journal of diabetes 2024年第7期15卷 1417-1429页

作者： Tsung-Tai Chen Wei-Chih Su Mei-I Liu Department of Public Health College of MedicineFu Jen Catholic UniversityNew Taipei 24205Taiwan Department of Gastroenterology Taipei Tzu-Chi HospitalNew Taipei 23142Taiwan Department of pediatric endocrinology Mackay Children's HospitalTaipei 10449Taiwan

We still do not have comprehensive knowledge of which framework of patientcentered care(PCC)is appropriate for diabetes care,which elements of PCC are evidence-based,and the mechanism by which PCC elements are associated with outcomes through *** this review,we elaborate on these *** found that for diabetes care,PCC elements such as autonomy support(patient individuality),cooperation and collaboration(system-level approach),communication and education(behavior change techniques),emotional support(biopsychosocial approach),and family/other involvement and support are critically *** of these factors are directly associated with different patient outcomes and indirectly associated with outcomes through patient *** present the practical implications of these PCC elements.

关键词： diabetes mellitus Patient-centered care Autonomy support Patient activation Patient adherence

Diabetic cardiomyopathy:Importance of direct evidence to support the roles of NOD-like receptor protein 3 inflammasome and pyroptosis

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World Journal of diabetes 2024年第8期15卷 1659-1662页

作者： Lu Cai Yi Tan Md Shahidul Islam Michael Horowitz Kupper A Wintergerst pediatric Research Institute Departments of PediatricsRadiation OncologyPharmacology and ToxicologyUniversity of LouisvilleWendy Novak Diabetes InstituteNorton Children’s HospitalLouisvilleKY 40202United States Department of Biochemistry School of Life SciencesUniversity of KwaZulu-NatalDurban 4000KwaZulu-NatalSouth Africa Department of Medicine University of AdelaideAdelaide 5005Australia pediatric Research Institute Division of EndocrinologyDepartment of PediatricsWendy Novak Diabetes InstituteNorton Children’s HospitalUniversity of LouisvilleLouisvilleKY 40202United States

Recently,the roles of pyroptosis,a form of cell death induced by activated NODlike receptor protein 3(NLRP3)inflammasome,in the pathogenesis of diabetic cardiomyopathy(DCM)have been extensively ***,most studies have focused mainly on whether diabetes increases the NLRP3 inflammasome and associated pyroptosis in the heart of type 1 or type 2 diabetic rodent models,and whether various medications and natural products prevent the development of DCM,associated with decreased levels of cardiac NLRP3 inflammasome and *** direct link of NLRP3 inflammasome and associated pyroptosis to the pathogenesis of DCM remains unclear based on the limited evidence derived from the available studies,with the approaches of NLRP3 gene silencing or pharmaceutical application of NLRP3 specific *** thus emphasize the requirement for more systematic studies that are designed to provide direct evidence to support the link,given that several studies have provided both direct and indirect evidence under specific *** editorial emphasizes that the current investigation should be circumspect in its conclusion,i.e.,not overemphasizing its role in the pathogenesis of DCM with the fact of only significantly increased expression or activation of NLRP3 inflammasome and pyroptosis in the heart of diabetic rodent *** clear-cut evidence-based causative roles of NLRP3 inflammasome and pyroptosis in the pathogenesis of DCM can help to develop effective and safe medications for the clinical management of DCM,targeting these biomarkers.

关键词： Diabetic cardiomyopathy Nucleotide oligomerization domain NOD-like receptor protein 3 inflammasome Cardiac cell death Pyroptosis

Duodenal-jejunal bypass improves hypothalamic oxidative stress and inflammation in diabetic rats via glucagon-like peptide 1-mediated Nrf2/HO-1 signaling

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World Journal of diabetes 2024年第2期15卷 287-304页

作者： Huai-Jie Wang Li-Bin Zhang Si-Peng Sun Qing-Tao Yan Zhi-Qin Gao Fang-Ming Fu Mei-Hua Qu Translational Medical Center Weifang Second People's HospitalWeifang 261041Shandong ProvinceChina Department of endocrinology Weifang Second People's HospitalWeifang 261041Shandong ProvinceChina Department of pediatric Surgery Weifang People’s HospitalWeifang 261041Shandong ProvinceChina School of Bioscience and Technology Weifang Medical UniversityWeifang 261053Shandong ProvinceChina Department of endocrinology Jinan Central Hospital Affiliated to Shandong First Medical UniversityJinan 250013Shandong ProvinceChina

BACKGROUND Type 2 diabetes mellitus(T2DM)is often accompanied by impaired glucose utilization in the brain,leading to oxidative stress,neuronal cell injury and *** studies have shown that duodenal jejunal bypass(DJB)surgery significantly improves brain glucose metabolism in T2DM rats,the role and the metabolism of DJB in improving brain oxidative stress and inflammation condition in T2DM rats remain *** To investigate the role and metabolism of DJB in improving hypothalamic oxidative stress and inflammation condition in T2DM *** A T2DM rat model was induced via a high-glucose and high-fat diet,combined with a low-dose streptozotocin injection.T2DM rats were divided into DJB operation and Sham operation *** surgical intervention was carried out on T2DM *** differential expression of hypothalamic proteins was analyzed using quantitative proteomics *** related to oxidative stress,inflammation,and neuronal injury in the hypothalamus of T2DM rats were analyzed by flow cytometry,quantitative real-time PCR,Western blotting,and *** Quantitative proteomics analysis showed significant differences in proteins related to oxidative stress,inflammation,and neuronal injury in the hypothalamus of rats with T2DM-DJB after DJB surgery,compared to the T2DM-Sham groups of *** stress-related proteins(glucagon-like peptide 1 receptor,Nrf2,and HO-1)were significantly increased(P<0.05)in the hypothalamus of rats with T2DM after DJB *** surgery significantly reduced(P<0.05)hypothalamic inflammation in T2DM rats by inhibiting the activation of NF-κB and decreasing the expression of interleukin(IL)-1βand *** surgery significantly reduced(P<0.05)the expression of factors related to neuronal injury(glial fibrillary acidic protein and Caspase-3)in the hypothalamus of T2DM rats and upregulated(P<0.05)the expression of neuroprotective factors(C-fos,Ki67,Bcl-2,and BDNF),thereby reducing hypot

关键词： Duodenal jejunal bypass surgery Type 2 diabetes mellitus Neuron apoptosis Inflammatory Oxidative stress Hypothalamic injury

Development and validation of a novel non-invasive test for diagnosing nonalcoholic fatty liver disease in Chinese children

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World Journal of pediatrics 2024年第4期20卷 413-421页

作者： Zhe-Wen Qin Qian-Nan Ren Hong-Xi Zhang Ya-Ru Liu Ke Huang Wei Wu Guan-Ping Dong Yan Ni Jun-Fen Fu Division of endocrinology National Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalDepartment of EndocrinologyNational Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalZhejiang University School of MedicineHangzhou310052China

With the exploding prevalence of obesity,many children are at risk of developing nonalcoholic fatty liver *** anthropometric and laboratory parameters,our study aimed to develop a model to quantitatively evaluate liver fat content(LFC)in children with *** A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the endocrinology Department as the derivation *** external validation cohort comprised 77 *** assessment of liver fat content was performed using proton magnetic resonance *** and laboratory metrics were measured in all subjects.B-ultrasound examination was carried out in the external validation *** Kruskal-Wallis test,Spearman bivariate correlation analyses,univariable linear regressions and multivariable linear regression were used to build the optimal predictive *** The model was based on indicators including alanine aminotransferase,homeostasis model assessment of insulin resistance,triglycerides,waist circumference and Tanner *** adjusted R^(2)of the model was 0.589,which presented high sensitivity and specificity both in internal[sensitivity of 0.824,specificity of 0.900,area under curve(AUC)of 0.900 with a 95%confidence interval:0.783–1.000]and external validation(sensitivity of 0.918 and specificity of 0.821,AUC of 0.901 with a 95%confidence interval:0.818–0.984).Conclusions Our model based on five clinical indicators was simple,non-invasive,and inexpensive;it had high sensitivity and specificity in predicting LFC in ***,it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

关键词： Biochemical markers Children Magnetic resonance spectroscopy Nonalcoholic fatty liver disease pediatric obesity

Dysfunction of the adhesion G protein-coupled receptor latrophilin 1(ADGRL1/LPHN1)increases the risk of obesity

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Signal Transduction and Targeted Therapy 2024年第5期9卷 2298-2311页

作者： Heba ZabriTorsten Schöneberg AndréNguyen Dietzsch Hadi Al-Hasani Joachim Altschmied Katharina Bottermann Jana Brendler Judith Haendeler Susanne Horn Isabell Kaczmarek Antje Körner Kerstin Krause Kathrin Landgraf Diana Le Duc Laura Lehmann Stefan Lehr Stephanie Pick Albert Ricken Rene Schnorr Angela Schulz Martina Strnadová Akhil Velluva Heba Zabri Torsten Schöneberg Doreen Thor Simone Prömel Rudolf Schönheimer Institute of Biochemistry Medical FacultyLeipzig UniversityLeipzigGermany Institute for Clinical Biochemistry and Pathobiochemistry Medical FacultyGerman Diabetes CenterLeibniz Center for Diabetes Research at Heinrich Heine University DüsseldorfDüsseldorfGermany German Center for diabetes Research(DZD e.V.) Munich-NeuherbergGermany Cardiovascular Degeneration Clinical Chemistry and Laboratory DiagnosticsMedical FacultyUniversity Hospital and Heinrich Heine University DüsseldorfDüsseldorfGermany Cardiovascular Research Institute(CARID) Medical FacultyUniversity Hospital and Heinrich Heine University DüsseldorfDüsseldorfGermany Institute of Pharmacology Medical FacultyUniversity Hospital and Heinrich Heine University DüsseldorfDüsseldorfGermany Institute of Anatomy Medical FacultyLeipzig UniversityLeipzigGermany Center for pediatric Research Hospital for Children and AdolescentsMedical FacultyLeipzig UniversityLeipzigGermany Helmholtz Institute for Metabolic Obesity and Vascular Research(HI-MAG)of the Helmholtz Zentrum München at the University of Leipzig and University Hospital LeipzigLeipzigGermany Department of endocrinology NephrologyRheumatologyLeipzig University Medical CenterLeipzigGermany Institute of Human Genetics Leipzig University Medical CenterLeipzigGermany Institute of Cell Biology Department of BiologyHeinrich Heine University DüsseldorfDüsseldorfGermany School of Medicine University of Global Health EquityKigaliRwanda

Obesity is one of the diseases with severe health consequences and rapidly increasing worldwide *** the complex network of food intake and energy balance regulation is an essential prerequisite for pharmacological intervention with obesity.G protein-coupled receptors(GPCRs)are among the main modulators of metabolism and energy ***,for instance,regulate appetite and satiety in certain hypothalamic neurons,as well as glucose and lipid metabolism and hormone secretion from *** in some GPCRs,such as the melanocortin receptor type 4(MC4R),have been associated with early-onset ***,we identified the adhesion GPCR latrophilin 1(ADGRL1/LPHN1)as a member of the regulating network governing food intake and the maintenance of energy *** of the highly conserved receptor in mice results in increased food consumption and severe obesity,accompanied by dysregulation of glucose ***,we identified a partially inactivating mutation in human ADGRL1/LPHN1 in a patient suffering from ***,we propose that LPHN1 dysfunction is a risk factor for obesity development.

关键词： obesity metabolism intake

Effect of nutrition-related infodemics and social media on maternal experience: A nationwide survey in a low/middle income country

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World Journal of Clinical pediatrics 2024年第1期13卷 93-106页

作者： Marwa M Zein Noha Arafa Mortada H F El-Shabrawi Nehal Mohammed El-Koofy Department of Public Health and Community Medicine Cairo UniversityCairo 515211Egypt Department of pediatric endocrinology and diabetes Children's HospitalKasralainy Medical SchoolCairo UniversityCairo 515211Egypt Department of pediatrics Cairo UniversityCairo 12411Egypt Department of pediatrics The Children's HospitalCairo UniversityCairo 12411Egypt

BACKGROUND Undernutrition is a crucial cause of morbidity and mortality among children in low-or middle-income countries(LMICs).A better understanding of maternal general healthy nutrition knowledge,as well as misbeliefs,is highly essential,especially in such *** the current era of infodemics,it is very strenuous for mothers to select not only the right source for maternal nutrition information but the correct information as *** To assess maternal healthy nutritional knowledge and nutrition-related misbeliefs and misinformation in an LMIC,and to determine the sources of such information and their assessment *** This cross-sectional analytical observational study enrolled 5148 randomly selected Egyptian mothers who had one or more children less than 15 years *** data were collected through online questionnaire forms:One was for the general nutrition knowledge assessment,and the other was for the nutritional myth *** of information and ways of evaluating internet sources using the Currency,Relevance,Authority,Accuracy,and Purpose test were additionally *** The mean general nutrition knowledge score was 29±9,with a percent score of 70.8%±12.1%(total score:41).The median myth score was 9(interquartile range:6,12;total score:18).The primary sources of nutrition knowledge for the enrolled mothers were social media platforms(55%).Half of the mothers managed information for currency and authority,except for considering the author's contact *** than 60%regularly checked information for accuracy and *** mothers with significant nutrition knowledge checked periodically for the author's contact information(P=0.012).The nutrition myth score was significantly lower among mothers who periodically checked the evidence of the information(P=0.016).Mothers dependent on their healthcare providers as the primary source of their general nutritional knowledge were less likely to hold myths by 13%(P=0.044).However,usi

关键词： Nutrition Infodemics Maternal knowledge Myth Low/middle income country