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Endothelial impairment evaluation by peripheral arterial tonometry in pediatric endocrinopathies:A narrative review

World Journal of Diabetes 2021年第6期12卷 810-826页

作者： Alberto La Valle Marco Crocco Decimo Silvio Chiarenza Mohamad Maghnie Giuseppe d'Annunzio pediatric clinic and endocrinology IRCCS Istituto Giannina GasliniGenoa16147Italy pediatric clinic and endocrinology IRCCS Giannina Gaslini InstituteDepartment of NeuroscienceRehabilitationOphthalmologyGeneticsMaternal and Child Health University of GenoaGenoa16147Italy

Endothelial dysfunction(ED)is characterized by an imbalance between vasodilator and vasoconstriction *** pathological conditions clinically diagnosed in childhood and adolescence are characterized by ED and increased risk for early development of microangiopathic and macroangiopathic impairment,in particular type 1 diabetes mellitus(T1DM),T2DM,obesity,metabolic syndromeand pituitary dysfunction associated to various *** recently insulin resistance following chemotherapy or radiotherapy for tumors,bone marrow transplantation for hematological malignancies(i.e.,cancer survivors),or immunosuppressive treatment for solid organ transplantation has been *** of ED by means of non-invasive techniques is the gold standard for early ED detection before clinical *** is aimed to recognize patients at risk and to avoid the development and progression of more serious *** hyperemia-peripheral artery tonometry is a noninvasive technique to assess peripheral endothelial function by measuring modifications in digital pulse volume during reactive hyperemia,and represents a non-invasive,reproducible and operator-independent tool able to detect precocious *** narrative review aimed to provide an overview of the most important papers regarding ED detection by EndoPat 2000 in children and adolescents with different endocrine diseases.A comprehensive search of English language articles was performed in the MEDLINE database without using other search filters except the publication interval between 2005 and 2020.

关键词： pediatric diabetes mellitus pediatric endocrinopathies Metabolic syndrome Cancer survivors Endothelial dysfunction Peripheral artery tonometry

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Sensitivity of supplementation of thyroid hormone on treatmentof idiopathic short-stature children during therapy withrecombinant human growth hormone

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Frontiers of Medicine 2018年第5期12卷 580-585页

作者： Wei Wang Shuqin Jiang Zhirui Cui Xiangyang Luo Lingli Shi Heli Zheng pediatric endocrinology clinic Third Affiliated Hospital of Zhengzhou University Zhengzhou 450000 China Third Affiliated Hospital ofZhengzhou University Zhengzhou 450000 China

This study aimed to evaluate the effects of thyroid hormone supplementation on growth rate of children with idiopathic short stature (ISS) and low-normal serum free thyroxine FT4 who were receiving growth hormone therapy. We selected 64 prepubertal children with FT4 levels in the lowest third of the normal range as the lower FT4 group, and these children were divided randomly into two subgroups: L-thyroxine (L-T4)-treated subgroup was treated with L-T4 (0.5-3.0 g/(kg·d)) from the beginning of the study, and the non-L-T4-treated subgroup received placebo. We also selected 39 ISS children with FT4 in the upper two-thirds of the normal range as the higher FT4 group. During the first year, the lower FT4 group featured lower FT3, FT4, thyroid stimulating hormone (TSH), and insulin-like growth factor-I standard deviation score (IGF-I SDS) and significantly lower height velocity (HV) compared with the higher FT4 group. However, in the lower FT4 group, the L-T4-treated subgroup presented higher FT4, FT3, TSH, and IGF-I SDS concentrations and significantly higher HV compared with children in the non-L-T4-treated subgroup. In children with ISS, the negative effect of thyroid hormone deficiency on growth rate should be considered when FT4 level lies in the low-normal range prior to recombinant human growth hormone treatment.

关键词： free T4 idiopathic short-stature children recombinant human growth hormone the first year therapeutic

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Efficacy of anagliptin as compared to linagliptin on metabolic parameters over 2 years of drug consumption: A retrospective cohort study

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World Journal of Diabetes 2018年第10期9卷 165-171页

作者： Hidetaka Hamasaki Yasuteru Hamasaki endocrinology and Metabolism Internal Medicine Hamasaki Clinic Diabetes Hamasaki Clinic

AIM To evaluate the comparative effectiveness of anagliptin and linagliptin on the clinical parameters in patients with type 2 diabetes mellitus(T2 DM). METHODS A 2-year retrospective cohort study was conducted in patients with T2 DM who received anagliptin and linagliptin. We enrolled 234 patients(anagliptin group, 117 patients; linagliptin group, 117 patients). RESULTS The glycemic control considerably improved 3, 6, 12, and 24 mo after the administration of both dipeptidyl peptidase-4(DPP-4) inhibitors. Following the administration of anagliptin, the diastolic blood pressure and serum total cholesterol levels decreased. However, serum high-density lipoprotein cholesterol levels increased and urinary albumin-creatinine ratio decreased following linagliptin administration. Furthermore, the liver function improved after the administration of *** These findings suggest that that the efficacy of DPP-4 inhibitors on the blood pressure, lipid profile, and liver function differs between anagliptin and linagliptin.

关键词： Type 2 diabetes mellitus Dipeptidyl peptidase-4 inhibitor Anagliptin Linagliptin Cholesterol

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Effects of glucose-lowering agents on cardiorespiratory fitness

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World Journal of Diabetes 2018年第12期9卷 230-238页

作者： Hidetaka Hamasaki endocrinology and Metabolism Internal Medicine Hamasaki Clinic

Exercise therapy is essential for the management of type 2 diabetes(T2 D). However, patients with T2 D show lower physical activity and reduced cardiorespiratory fitness than healthy individuals. It would be ideal for clinicians to co-prescribe glucose-lowering agents that improve cardiorespiratory fitness or exercise capacity in conjunction with exercise therapy. Metformin does not improve cardiorespiratory fitness and may attenuate any beneficial effect of exercise in patients with T2 D. In contrast, thiazolidinediones appear to improve cardiorespiratory fitness in patients with T2 D. Although evidence is limited, sodium–glucose cotransporter 2(SGLT2) inhibitors may improve cardiorespiratory fitness in patients with heart failure, and the effect of glucagon-like peptide-1(GLP-1) receptor agonists on cardiorespiratory fitness is controversial. Recent clinical trials have shown that both SGLT2 inhibitors and GLP-1 receptor agonists exert a favorable effect on cardiovascular disease. It becomes more important to choose drugs that have beneficial effects on the cardiovascular system beyond glucose-lowering effects. Further studies are warranted to determine an ideal glucose-lowering agent combined with exercise therapy for the treatment of T2 D.

关键词： Type 2 diabetes Glucagon-like peptide l receptor agonist Cardiorespiratory fitness Exercise capacity Metformin Thiazolidinedione Sodium-glucose cotransporter 2 inhibitors

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Exercise Catheterization for Hemodynamic Evaluation of Adults with Coarctation of the Aorta

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Congenital Heart Disease 2022年第6期17卷 605-615页

作者： Irene Martin de Miguel C.Charles Jain Alexander C.Egbe Jason H.Anderson Heidi M.Connolly William R.Miranda Department of Cardiovascular Medicine Mayo ClinicRochesterMinnesotaUSA Department of pediatric and Adolescent Medicine Division of Pediatric CardiologyMayo ClinicRochesterMinnesotaUSA

Background: Coarctation of the aorta (CoA) is associated with a generalized arteriopathy and long-term complicationsdespite repair. Data on invasive exercise hemodynamics in this population are lacking. Accordingly, wereviewed adults with CoA undergoing exercise catheterization to assess 1. hemodynamic profile;2. feasibilityfor assessment of CoA severity. Methods: Twenty patients undergoing exercise cardiac catheterization (12 armadduction and 8 supine cycle ergometry) at a quaternary care center between 2004 and 2021 were identified. Restingand exercise hemodynamic data were abstracted from the procedure logs. Results: Mean age was 43.6 ±12.0 years. Eleven patients (55%) had resting pulmonary arterial wedge pressure (PAWP) >15 mmHg;amongthose undergoing arterial catheterization, left ventricular end-diastolic pressure was >15 mmHg in 63%. Elevenpatients (55%) had pulmonary hypertension: 7 (35%) combined and 4 (20%) isolated post-capillary. At peak exercise,ΔPAWP/Δcardiac output (CO) ≥2 and Δmean pulmonary artery pressure/ΔCO ≥3 mmHg/l/min were foundin 7 (78%) and 6 (67%) patients, respectively;the composite of exercise PAWP ≥25 mmHg or ΔPAWP/ΔCO>2 was seen in 12 (86%). CoA peak-to-peak gradients at baseline (n = 14) and during exercise (n = 9) were 12(3–16) and 16 mmHg (9–28), respectively. Only 2 patients had an increase in CoA gradient to >20 mmHg withexercise. Conclusions: Diastolic dysfunction and pulmonary hypertension were highly prevalent, with exerciseunmasking abnormal diastolic and pulmonary vascular reserve in some individuals. Most patients failed to showsignificant increases in CoA peak-to-peak gradients with exercise. Further studies are warranted to establish thebest diagnostic method for CoA severity assessment.

关键词： Coarctation of the aorta exercise heart catheterization diastolic dysfunction hypertension

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Exercise and glucagon-like peptide-1: Does exercise potentiate the effect of treatment?

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World Journal of Diabetes 2018年第8期9卷 138-140页

作者： Hidetaka Hamasaki endocrinology and Metabolism Internal Medicine Hamasaki Clinic

Recently, glucagon-like peptide-1(GLP-1) receptor agonists have become a cornerstone for the treatment of obese patients with type 2 diabetes(T2D), exhibiting favorable effects on the cardiovascular outcome. In T2D, impaired GLP-1 secretion/function is observed, and gut microbiota dysbiosis is related to the GLP-1 resistance. Prior research has revealed that exercise increases GLP-1 levels in healthy and obese individuals; however, the efficacy of exercise on GLP-1 levels in patients with T2D remains unclear. Exercise may improve GLP-1 resistance rather than GLP-1 secretion in patients with T2D. Exercise increases the gut microbiota diversity, which could contribute to improving the GLP-1 resistance of T2D. Furthermore, the gut microbiota may play a role in the correlation between exercise and GLP-1. The combination of exercise and GLP-1-based therapy may have a synergistic effect on the treatment of T2D. Although the underlying mechanism remains unknown, exercise potentiates the efficacy of GLP-1 receptor agonist treatment in patients with T2D.

关键词： Type 2 diabetes Exercise Glucagon-like peptide-1 Gut microbiota Myokine

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Male accessory gland inflammation prevalence in type 2 diabetic patients With symptoms possibly reflecting autonomic neuropathy

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Asian Journal of Andrology 2014年第5期16卷 761-766,I0010,I0011页

作者： Rosita A Condorelli Enzo Vicari Aldo E Calogero Sandro La Vignera Department of Medical and pediatric Sciences Section of Endocrinology Andrology and Internal Medicine University of Catania Catania Italy

Male accessory gland inflammation or infection （MAGI） is a potentially underdiagnosed complication of type 2 diabetes （DM2）; specifically, we reported in a recent study that the frequency of MAGI was 43% among DM2 patients. In previous studies, we have demonstrated that diabetic autonomic neuropathy （DAN） is associated with a peculiar ultrasound characterization of the seminal vesicles （SVs） in DM2 patients. The aim of the present study was to evaluate the frequency of MAGI in two different categories of DM2 patients （i.e. patients with and without symptoms that possibly reflect DAN） and the respective ultrasound characterizations. Sixty DM2 patients with a mean （± s.e.m.） age of 42.0 ± 6.0 years （range： 34-47 years） were classified according to the presence or the absence of symptoms that could possibly reflect DAN （group A： DM2 with symptoms possibly reflecting DAN, n = 28 patients and group B： DM2 without symptoms possibly reflecting DAN, n = 32 patients）. The patients in Group A exhibited a significantly higher frequency of MAGI compared with those in group B patients （P 〈 0.05）; moreover, the Group A patients exhibited a significantly higher frequency of ultrasound signs suggestive of vesiculitis （P 〈 0.05）. Finally, the concentrations of lymphocytes but not the concentrations of the leukocytes in the semen were significantly higher （P 〈 0.05） in group A compared with group B.

关键词： diabetic neuropathy male accessory gland inflammation or infection male infertility

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Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

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World Journal of pediatrics 2017年第4期13卷 381-386页

作者： Lian-Shu Han Zhuo Huang Feng Han 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:Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT).This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of ***:Eight Chinese patients were identified with novel *** carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional *** expression and activity of MCM were determined by western blot and ultra-performance liquid chromatography,***:All patients had high levels of blood propionylcarnitine and urinary methylmalonyl *** the end of the study,two patients were lost to follow-up,three died,and three survived with mental *** to the wild-type protein,the expression levels of all missense mutations of in vitro MCM protein were decreased (P<0.05) except those for I597R,and the MCM activity of the mutations was reduced in a permissive ***:The missense mutations L140P,A141T,G161V,W309G,I505T,Q514K,I597R and G723D affected the stability and enzymatic activity of MCM,indicating that they had a disease-causing capacity.

关键词： methylmalonic acid methylmalonic acidemia methylmalonyl-CoA mutation missense mutation

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Vascular anomalies associated with hepatic shunting

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World Journal of Gastroenterology 2020年第42期26卷 6582-6598页

作者： Michael J Schmalz Kadakkal Radhakrishnan Department of pediatric Gastroenterology Cleveland ClinicClevelandOH 44106United States Department of pediatric Gastroenterology Children's HospitalCleveland ClinicClevelandOH 44106United States

Congenital vascular anomalies affecting the liver have been described in the scientific literature for *** these malformations begins with knowledge of hepatic vascular *** have applied numerous classification systems to describe both intrahepatic and extrahepatic shunts,which can confuse the reader and *** our experience,focusing on one classification system for extrahepatic shunts and one for intrahepatic shunts is *** many patients with these shunts carry good long-term prognosis thanks to advances in imaging to better detect shunts earlier and classify *** intervention by skilled radiologists and surgeons have also limited complications arising from dynamic shunts and can avoid a liver *** hepatic shunts are not the only vascular condition affecting the *** hemorrhagic telangiectasia,also known as Osler Weber Rendu syndrome,particularly type 2,may have varying severity of hepatic involvement which warrants longitudinal care from an experienced ***,congenital hemangiomas,often first identified on the skin and oral mucosa,also can affect the *** most will resolve in infancy and childhood,the pediatric hepatologist must understand how and when to treat persistent lesions and their *** article serves as a concise reference to help clinicians better care for patients with these rare conditions.

关键词： Hepatic Shunt pediatric Hemangioma Congenital Vascular

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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

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