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Association of stiff-person syndrome with autoimmune endocrine diseases

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World Journal of Clinical Cases 2019年第19期7卷 2942-2952页

作者： Yi-Yin Lee I-Wen Chen Szu-Tah Chen Chih-Ching Wang Department of Internal Medicine Division of Endocrinology and Metabolism Chang Gung Memorial Hospital

BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme that catalyzes the production ofγ-aminobutyric acid(GABA),a major inhibitory neurotransmitter of the central nervous system.SPS is an autoimmune disease triggered by antiglutamic acid decarboxylase antibody(anti-GAD Ab).Clinically,anti-GAD Ab is associated with SPS,type 1 diabetes mellitus(T1DM),and other autoimmune diseases.AIM To investigate the link of autoimmune endocrine disorders with anti-GAD Ab in SPS subjects.METHODS This retrospective study was approved by the Institutional Review Board of Chang Gung Memorial Hospital,Taiwan.We collected the patients with SPS from January 2001 to June 2018.By reviewing 14 patients from medical records,we analyzed the clinical findings with coexisting autoimmune diseases,particularly diabetes mellitus and thyroid disease,which are associated with anti-GAD antibody titers or other immunological test results(anti-thyroid peroxidase and anti-nuclear antibodies).We also evaluated malignancies,major complications,and reported treatment to improve symptoms.Anti-GAD antibodies were measured using radioimmunoassay and enzyme-linked immunosorbent assay(ELISA).The cut-off values of these tests are<1 U/mL and<5 U/mL,respectively.RESULTS The median age of all patients was 39.3(range,28.0-54.0)years with a median follow-up period of 6.0(2.7-13.3)years.Five(35.7%)patients were female;twelve(85.7%)were diagnosed with classic SPS and two(14.3%)with SLS.The median age of onset of symptoms was 35.0(26.0-56.0)years with a median follow-up duration of 9.0(2.1-14.9)years in the classic SPS group;the SLS group had a median age of onset of 46.7 years and a shorter follow-up duration of 4.3 years.Among nine classic SPS patients who underwent the anti-GAD Ab test,three were anti-GAD Ab seropositive and each of these three patients also had T1DM,latent autoimmune diabetes in adults,and

关键词： Stiff-person syndrome Glutamic acid decarboxylase antibody Autoimmune disease Type 1 diabetes mellitus Latent autoimmune diabetes in adults Autoimmune thyroid disease

The regulatory subunits of PI3K, p85α and p85β, differentially affect BRD7-mediated regulation of insulin signaling

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Journal of Molecular Cell Biology 2021年第12期13卷 889-901页

作者： Junsik M.Lee Renyan Liu Sang Won Park Division of Endocrinology Boston Children’s HospitalHarvard Medical SchoolBostonMA 02115USA

Bromodomain-containing protein 7 (BRD7) has been shown to interact with the regulatory subunit of phosphatidylinositol 3-kinase(PI3K), p85, in the insulin signaling pathway. Here, we show that upregulation of hepatic BRD7 improves glucose homeostasiseven in the absence of either p85 isoform, p85a or p85b. However, BRD7 leads to differential activation of downstream effectorproteins in the insulin signaling pathway depending on which isoform of p85 is present. In the presence of only p85a, BRD7 overexpression increases phosphorylation of insulin receptor (IR) upon insulin stimulation, without increasing the recruitment of p85to IR substrate. Overexpression of BRD7 also increases activation of Akt in response to insulin, but does not affect basal phosphorylation levels of Akt. Meanwhile, the phosphorylation of glycogen synthase kinase 3b (GSK3b) is increased by overexpression ofBRD7. On the other hand, in the presence of only p85b, BRD7 overexpression does not affect phosphorylation levels of IR, and Aktphosphorylation is not affected by insulin stimulation following BRD7 upregulation. However, BRD7 overexpression leads to increased basal phosphorylation levels of Akt and GSK3b. These data demonstrate that BRD7’s action on glucose homeostasis doesnot require the presence of both p85 isoforms, and p85a and p85b have unique roles in insulin signaling in the liver.

关键词： PI3K BRD7 Akt insulin signaling

Expert Consensus on Cognitive Dysfunction in Diabetes

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Current Medical Science 2022年第2期42卷 286-303页

作者： Yan YANG Jia-jun ZHAO Xue-feng YU Division of Endocrinology Department of Internal MedicineTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Department of endocrinology Shandong Provincial Hospital Affiliated to Shandong UniversityJinan25000China

The incidence of diabetes is gradually increasing in China,and diabetes and associated complications,such as cognitive dysfunction have gained much attention in recent time.However,the concepts,clinical treatment,and prevention of cognitive dysfunction in patients with diabetes remain unclear.The Chinese Society of endocrinology investigated the current national and overseas situation of cognitive dysfunction associated with diabetes.Based on research both in China and other countries worldwide,the Expert Consensus on Cognitive Dysfunction in Diabetes was established to guide physicians in the comprehensive standardized management of cognitive dysfunction in diabetes and to improve clinical outcomes in Chinese patients.This consensus presents an overview,definition and classification,epidemiology and pathogenesis,risk factors,screening,diagnosis,differential diagnosis,treatment,and prevention of cognitive dysfunction in patients with diabetes.

关键词： diabetes cognitive dysfunction antidiabetic agents

Transient hyperphosphatasemia in a toddler with COVID-19 infection:A case report and literature review

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世界临床儿科杂志 2023年第4期12卷 237-243页

作者： Pemiga Sukhupanyarak Voraluck Phatarakijnirund Division of Endocrinology Department of PediatricsPhramongkutklao College of MedicineBangkok 10400Thailand Division of Endocrinology Department of PediatricsBuddhachinaraj HospitalPhitsanulok 6500Thailand

BACKGROUND Transient hyperphosphatasemia(TH)is a condition characterized by elevated serum alkaline phosphatase(ALP)in the clinical setting with no evidence of bone or liver disease among children under the age of 5.Typically,it will resolve spontaneously in a few months in the majority of cases.TH has been found to be associated with viral infections.Two cases of TH associated with coronavirus disease 2019(COVID-19)infection in toddlers have been previously reported.CASE SUMMARY A previously healthy 2-year-old boy presented with fever and positive real-time polymerase chain reaction for COVID-19.Prior to his illness,the patient had been in close contact with his grandfather,who later developed COVID-19.The physical examination on admission was unremarkable.He remained asymptomatic throughout 7 d of hospitalization.On the 5th day of his illness,blood tests showed markedly elevated serum ALP(4178 U/L).Results from the simultaneous testing of the remaining liver profiles and metabolic bone panels were normal.Two months after discharge from the hospital,the patient continued to thrive well.The skeletal surveys revealed no significant abnormalities.The serum ALP declined into the normal range adjusted for his age.This evidence is consistent with the diagnosis of TH.CONCLUSION TH can occur in COVID-19-infected toddlers.Serial measurements of ALP levels have been shown to gradually decline into the normal range within a few months.Therefore,being aware of this transient abnormality will help clinicians to avoid additional unnecessary investigations.

关键词： Alkaline phosphatase Coronavirus Pediatric endocrinology Case report

Obesity is an important determinant of severity in newly defined metabolic dysfunction-associated fatty liver disease

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Hepatobiliary & Pancreatic Diseases International 2022年第3期21卷 241-247页

作者： Ji Hye Huh Kwang Joon Kim Seung Up Kim Bong-Soo Cha Byung-Wan Lee Division of Endocrinology and Metabolism Department of Internal MedicineHallym University Sacred Heart HospitalAnyang 14068Korea division of Geriatrics Department of Internal MedicineYonsei University College of MedicineSeoul 03722Korea Division of Endocrinology and Metabolism Department of Internal MedicineYonsei University College of MedicineSeoul 03722Korea Institute of Gastroenterology Department of Internal MedicineYonsei University College of MedicineSeoul 03722Korea

Background: The recently proposed definition of metabolic dysfunction-associated fatty liver disease(MAFLD) is based on the co-existence of hepatic steatosis with other metabolic disorders, including obesity and metabolic risk abnormalities such as hyperglycemia, high blood pressure and dyslipidemia. This study aimed to assess MAFLD severity according to the presence of metabolic abnormalities and obesity. Methods: Using transient elastography, hepatic steatosis and fibrosis severity were assessed by measuring the controlled attenuation parameter and liver stiffness measurement. A total of 1163 patients with MAFLD were categorized into the following four groups according to metabolic risk abnormalities and obesity presence: non-obese without metabolic risk abnormality group(Group 1;reference group);nonobese with metabolic risk abnormality group(Group 2);obese without metabolic risk abnormality group(Group 3);and obese with metabolic risk abnormality group(Group 4). A multiple logistic regression analysis was performed to determine severe hepatic steatosis and fibrosis risk in each group in both unadjusted and adjusted models. Results: In the adjusted model, the odds ratios(ORs) [95% confidence interval(CI)] for severe hepatic steatosis in Groups 2, 3, and 4 were 1.07(0.61-1.88), 2.43(1.44-4.08), and 4.07(2.56-6.48), respectively( P trend < 0.001). For liver fibrosis, compared with Group 1, Group 2 showed no significant increases in OR, whereas Groups 3 and 4(obese groups) showed significant increases(OR = 4.70, 95% CI: 1.24-17.82 and OR = 6.43, 95% CI: 1.88-22.02, respectively). Conclusions: Obesity, rather than metabolic abnormality, is the principal determinant of severe hepatic steatosis and fibrosis in patients with MAFLD.

关键词： Metabolic dysfunction-associated fatty liver disease Metabolically-healthy obesity Liver fibrosis

Amplitude of peroneal compound motor action potential increases in type 2 diabetes with thyroid autoimmunity

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Science China(Life Sciences) 2018年第8期61卷 988-991页

作者： Fanfan Zhu Boren Jiang Rongliang Ren Lizhen Yang Division of Endocrinology and Metabolism Shanghai Ninth People's Hospital School of Medicine Shanghai Jiaotong University

Dear Editor,Diabetic peripheral neuropathy(DPN)is a frequently occurring complication of diabetes.DPN is diagnosed on the basis of findings of neural electrophysiological study,such as the nerve conduction study(NCS).The most common NCS manifestations of DPN include slow velocity,prolonged latency,and decreased amplitude.Risk factors for DPN include age,hyperglycemia,dyslipidemia,smoking,atherosclerotic cardiovascular disease,peripheral arterial disease,diabetic nephropathy,and diabetic retinopathy.

关键词：糖尿病振幅甲状腺动脉粥样硬化马达复合类型 DPN

A case of deep vein thrombosis in a young male treated with tamoxifen for idiopathic infertility

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Asian Journal of Andrology 2017年第5期19卷 615-616页

作者： Stefano Allasia Giovanna Motta Marzia Mirabelli Milena Paola Tagliabue Fabio Lanfranco Division of Endocrinology Diabetology and Metabolism Department of Medical Sciences University of Turin Turin Italy

Dear Editor, We present here a case of idiopathic male infertility who developed deep vein thrombosis （DVT） with the use of tamoxifen, a selective estrogen receptor modulator, probably through a hypercoagulable state.

关键词： CLINICAL-PRACTICE BREAST-CANCER THERAPY ESTROGEN

Semen analysis standardization： is there any problem in Polish laboratories？

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Asian Journal of Andrology 2013年第5期15卷 616-621页

作者： Renata Walczak-Jedrzejowska Katarzyna Marc hlewsks Elzbieta Oszukowska Eliza Filipiak Leszek Bergier Jolanta Slowikowska-Hilczer division of Andrology Department of Andrology and Reproductive Endocrinology Medical University of Lodz 91-425 Lodz Poland division of Reproductive endocrinology Department of Andrology and Reproductive Endocrinology Medical University of Lodz 91-425 Lodz Poland Diagnostyka Company Ltd Medical Laboratories 31-513 Cracow Poland

The aim of the study was to determine the degree of compliance of Polish laboratories with World Health Organization （WHO） recommendations, with regard to semen analysis methodology. A survey requesting information about methods of semen analysis was distributed to employees of 55 laboratories. Respondents who had participated in external seminological workshops （31%） were termed certified respondents （CR）, the remaining （69%）--non-certified respondents （NCR）. Only one laboratory （6%） in the CR group and none in the NCR were compliant with WHO guidelines for methods and equipment used to evaluate seminal volume, sperm motility, concentration, vitality and morphology. Most problems were of volume measurement （weighing method was reported by 17% of CR and 10% of NCR） and staining method for sperm morphology （Papanicolau or Diff-Quik were found in 33% of CR and 23% of NCR）. A three- or four-point grading of sperm motility was used by the majority of respondents; however, 17% of CR and 37% of NCR did not use a laboratory counter to tally spermatozoa. Although a haemocytometer method was used by 80% of laboratories in each group, the improved Neubauer chamber was used only by 42% of CR and 19% of NCR. In each group, 24% of laboratories did not perform a vitality test. Procedural errors and the interchangeable utilization of two or even three methods to analyse a given parameter was observed in both groups. The results indicate a need for standardisation of the methods and continuous, unified training in semen analysis in Polish laboratories.

关键词： clinical laboratory compliance semen analysis World Health Organization

Autologous bone marrow stem cell transplantation in critical limb ischemia： a meta-analysis of randomized controlled trials

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Chinese Medical Journal 2012年第23期125卷 4296-4300页

作者： LIU Fu-peng DONG Jian-jun SUN Shu-juan GAO Wei-yi ZHANG Zhong-wen ZHOU Xiao-jun YANG Liu ZHAO Jim-yu YAO Jin-ming LIU Meng LIAO Lin Division of Endocrinology Department of Medicine division of Clinical Pharmacy Department of Pharmaceutical Sciences Shandong Provincial Qianfoshan Hospital Jinan Shandong 250014 China Division of Endocrinology Department of Medicine Qilu Hospital of Shandong University Jinan Shandong 250012 China

Background Amputation-free survival （AFS） has been recommended as the gold standard for evaluating No-Option Critical Limb Ischemia （NO-CLI） therapy. Early-phase clinical trials suggest that autologous bone-marrow derived cells （BMCs） transplantation may have a positive effect on patients with NO-CLI, especially decreasing the incidence of amputation. However, the BMCs therapeutic efficacy remains controversial and whether BMCs therapy is suitable for all CLI patients is unclear. Methods We conducted a meta-analysis using data from randomized controlled trials （RCTs） by comparing autologous BMCs therapy with controls in patients with critical limb ischemia, and the primary endpoint is the incidence of amputation. Pubmed, EBSCO and the Cochrane Central Register of Controlled Trials （to approximately July 25, 2012） were searched. Results Seven RCTs with 373 patients were enrolled in the meta-analysis. Because serious disease was the main reason leading to amputation in one trial, six studies with 333 patients were finally included in the meta-analysis. Pooling the data of the final six studies, we found that BMCs therapy significantly decreased the incidence of amputation in patients with CLI （odds ratio （OR）, 0.37; 95% confidence interval （CI）, 0.22 to 0.62; P=-0.0002）, and the efficacy had not significantly declined within 6 months after BMCs were transplanted; OR, 0.33; 95% CI, 0.16 to 0.70; P=0.004 within 6 months and OR, 0.30; 95% CI, 0.11 to 0.79; P=0.01 within 3 months. The rate of AFS after BMCs therapy was significantly increased in patients with Rutherford class 5 CLI （OR 3.28; 95% CI, 1.12 to 9.65; P=0.03）, while there was no significant improvement in patients with Rutherford class 4 （OR 0.35; 95% CI, 0.05 to 2.33; P=0.28） compared with controls. The BMCs therapy also improved ulcer healing （OR, 5.83; 95% CI, 2.37 to 14.29; P=-0.0001）. Conclusions Our analysis suggests that autologous BMCs therapy has a beneficial effect in decreasing the incidence of amputation and the efficacy does not decrease signif

关键词： bone marrow-derived cells stem cells transplantation critical limb ischemia meta-analysis