Genetic analysis of a Chinese pedigree with chronic kidney disease due to variant of PAX2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with chronic kidney disease (CKD).@*METHODS@#A Chinese pedigree comprised of 10 individuals from four generation who had visited the First Affiliated Hospital of Dali University from August 15, 2018 to July 5, 2021 was selected as the study subject. Clinical data of the proband were collected, and a pedigree survey was conducted. The proband was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband, a 41-year-old female, has been diagnosed with chronic nephritis for more than 4 years. Routine urinary examination showed proteinuria and blood creatinine of 1 130 μmol/L. Renal biopsy has revealed hyperplastic glomerulonephritis, moderate tubulointerstitial disease and renal arteriosclerosis. Her elder sister, younger brother, younger sister and mother were all diagnosed with CKD stage 5. Except for her elder sister, all of them had deceased, whilst no abnormality was found in the remainders. Genetic testing revealed that the proband and four family members had harbored a c.467G>A missense variant of the PAX2 gene. The variant has been associated with focal segmental glomerulosclerosis and classified as likely pathogenic (PS1+PP3+PP4) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The c.167G＞A variant of the PAX2 gene probably underlay the CKD in this Chinese pedigree.

The 58 th annual meeting of the European Association for the Study of Diabetes: advances in the research of diabetes mellitus and metabolic diseases / 中华内分泌代谢杂志

The 58 th annual scientific meeting of the European Association for the Study of Diabetes(EASD) was held in Stockholm in the form of online and offline combination from 19 to 23, September 2022. This meeting released the latest research findings of diabetes and metabolism through symposiums, oral presentations and discussions, and other presentation formats. The following highlights spotlight the 2022 EASD awards, consensus report on the management of hyperglycemia in type 2 diabetes, updated dietary guidelines for the treatment and prevention of diabetes, and other academic progress and research hot points in diabetes mellitus and metabolic diseases, aiming to provide references for the clinical management of diabetes mellitus and other related metabolic diseases in China.

Moderate and vigorous aerobic exercise reduces the 10-year risk of diabetes in adults with obesity / 中华内分泌代谢杂志

This article introduced the research design and main results of the article " Effect of Moderate and Vigorous Aerobic Exercise on Incident Diabetes in Adults with Obesity: A 10-Year Follow-up of a Randomized Clinical Trial" recently published in JAMA Internal Medicine, and addressed the scientific significance of the study. The importance of obesity management has been well discussed recently. This study investigated obesity management strategies for obese individuals and their long-term metabolic benefits.

Cytokine receptor-like factor 1 (CRLF1) promotes cardiac fibrosis via ERK1/2 signaling pathway / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Cardiac fibrosis is a cause of morbidity and mortality in people with heart disease. Anti-fibrosis treatment is a significant therapy for heart disease, but there is still no thorough understanding of fibrotic mechanisms. This study was carried out to ascertain the functions of cytokine receptor-like factor 1 (CRLF1) in cardiac fibrosis and clarify its regulatory mechanisms. We found that CRLF1 was expressed predominantly in cardiac fibroblasts. Its expression was up-regulated not only in a mouse heart fibrotic model induced by myocardial infarction, but also in mouse and human cardiac fibroblasts provoked by transforming growth factor-‍β1 (TGF‍-‍β1). Gain- and loss-of-function experiments of CRLF1 were carried out in neonatal mice cardiac fibroblasts (NMCFs) with or without TGF-‍β1 stimulation. CRLF1 overexpression increased cell viability, collagen production, cell proliferation capacity, and myofibroblast transformation of NMCFs with or without TGF‍-‍β1 stimulation, while silencing of CRLF1 had the opposite effects. An inhibitor of the extracellular signal-regulated kinase 1/2 (ERK1/2) signaling pathway and different inhibitors of TGF-‍β1 signaling cascades, comprising mothers against decapentaplegic homolog (SMAD)‍-dependent and SMAD-independent pathways, were applied to investigate the mechanisms involved. CRLF1 exerted its functions by activating the ERK1/2 signaling pathway. Furthermore, the SMAD-dependent pathway, not the SMAD-independent pathway, was responsible for CRLF1 up-regulation in NMCFs treated with TGF-‍β1. In summary, activation of the TGF-‍β1/SMAD signaling pathway in cardiac fibrosis increased CRLF1 expression. CRLF1 then aggravated cardiac fibrosis by activating the ERK1/2 signaling pathway. CRLF1 could become a novel potential target for intervention and remedy of cardiac fibrosis.

Effect of time-restricted eating on weight loss in obese adults: Implications from the TREATY study / 中华内分泌代谢杂志

This commentary was based on the paper "Calorie Restriction with or without Time-Restricted Eating in Weight Loss" (TREATY trial) published recently in N Engl J Med, with the aim to introduce the study design of TREATY trial and discuss the main findings along with its clinical applicability. This trial offers additional evidence on the time-restricted eating and provides insights for future research.

Exploration of multi-faceted model in plant biology teaching / 生物工程学报

Plant biology is a basic course for students majoring in biological science. Under the guidance of developmental biology, we have constructed a comprehensive, systematic and dynamic new curriculum system for plant biology. There are still some problems existing in the current curriculum teaching mode, e.g. the students do not listen carefully to the lecture due to single classroom teaching mode, the mismatch between theoretical and experimental courses in terms of content and timing, the incomplete understanding on plants and the difficulty of integrating learning and practicing due to insufficient field practices. In view of these problems, a series of new teaching strategies for bioscience major of Harbin Institute of Technology were proposed and implemented. The combination of lectures and high quality massive open online courses (MOOC) were used for theoretical study, to which the flipped classroom was added. In addition, the theoretical study and the experiment work were combined. Moreover, the plant cognitive practices were carried out in the campus and the botanical garden in early spring, late spring and summer, respectively. Satisfactory results were achieved after two rounds of teaching practice, which fulfilled the education requirements and laid foundations for students to continue follow-up basic and professional courses.

Research Progress of CircRNAs Regulating Biological Behavior of Clear Cell Renal Cell Carcinoma / 肿瘤防治研究

Renal cell carcinoma is one of the ten multiple cancers, and its incidence rate and mortality rate have been increasing in more than 20 years. Clear cell renal cell carcinoma (ccRCC) is the most common histopathological subtype. Cyclic ribonucleic acids (circRNAs) are noncoding ribonucleic acids, which are widely distributed with diverse cellular functions and have organ- and tissue-specific expression patterns. Recent studies have shown that circRNAs are abnormally expressed in ccRCC and play an important role in the occurrence and development of ccRCC. However, there are few researches and related mechanisms of circRNAs regulating the biological behavior of ccRCC. Therefore, the paper mainly describes the research progress of circRNAs regulating the biological behavior of ccRCC and discusses its potential as a biomarker for early diagnosis and prognosis of ccRCC and targeted therapy.

Recreational new drug use and influencing factors among young men who have sex with men in Tianjin / 中国学校卫生

Objective@#To understand the basic characteristics, sexual behavior and the use of recreational new drugs of young men who have sex with men (MSM) in Tianjin, and to explore the characteristics of young MSM who use recreational drugs, so as to provide reference for the policy making of HIV/AIDS prevention and control in universities.@*Methods@#From January 1, 2018, solstice to December 31, 2018, participants were recruited in the bathrooms, bars and social network sites in Tianjin by snowball sampling. The basic demographic information, sexual behavior and recreational drug use of the participants were collected through face to face interviews and questionnaires. Logistic regression was used to analyzed the characteristic differences drug users and non users among young MSM.@*Results@#A total of 826 young MSM were included in the study, 32 were infected with HIV, and the overall prevalence rate was 3.87 %. Totally 371 (44.92%) were drug users. Rush Poppers were the most common used drug ( 98.65 %). Of the young MSM using new drugs, 306 (82.48%) multiple drugs were used, 65 people ( 17.52 %) only one drug has been used. Among new drug users, multiple drug users had higher HIV prevalence rate (16.92%) than single drug users (4.57%). There were statistically significant differences between drug users and non users in age, age of first sexual behavior, household registration, sexual orientation, education level, sexual partners seeking routes, unprotected anal intercourse and HIV testing history( OR=3.70，5.51，0.51，0.60，4.64，0.40，0.52，1.98，2.29，P <0.05).@*Conclusion@#The utilization rate of recreational drugs among young MSM in Tianjin was high. Relevant departments should strengthen the propaganda of recreational drugs and HIV prevention among college students, improve the sexual health awareness of young MSM, and establish a long term HIV and recreational drug prevention system.

Establishment of Fingerprint and Multivariate Statistical Analysis of Compatible Herb Pairs with Polygonum multiflorum as the Core / 中国药房

OBJECTIVE：To establish UPLC fin gerprint of 32 compatible herb pairs with Polygonum multiflorum as the core ， and to conduct multivariate statistical analysis. METHODS ：UPLC method was adopted. Using P. multiflorum and single decoction pieces of compatible herb as reference ，UPLC fingerprints of 32 compatible herb pairs of P. multiflorum were drawn. Common peaks were confirmed by relative retention time and UV absorption spectrum. Non-supervised PCA and supervised OPLS-DA were conducted by using SPSS 19.0 software and SIMCA 13.0 software. RESULTS ：There were totally 12 common peaks in UPLC fingerprints of 32 compatible herb pairs of P. multiflorum . The results of non-supervised PCA showed that the accumulative variance contribution rate of primary 6 principal components was 84.633％. The results of cluster analysis of PCA comprehensive score showed that single decoction piece of P. multiflorum ，compatible herb pairs of P. multiflorum with Lycium barbarum ，Rehmannia glutinosa，Paeonia lactiflora ，Codonopsis pilosula ，Eclipta prostrate ，Angelica sinensis ，Glycyrrhiza uralensis ，Astragalus membranaceus and Ophiopogon japonicus were clustered into one category ；others were clustered into one category. Results of supervised OPLS-DA analysis showed that eigen values of 4 principal components were 2.32，2.61，1.58 and 0.90，respectively. There were differences in the contents of 12 common components in the compatibility of P. multiflorum with tonic medicine and non-tonic medicine. The changes of the content of the components after compatibility with tonic medicine were similar. Common peak 7，4，6，3 were main reasons for the differences （variable importance projection value were all higher than 1）. CONCLUSIONS：Established fingerprint is simple in operation ，and can be combined with multivariate statistical analysis to evaluate the content changes of common components of 32 compatible herb pairs with P. multiflorum as the core.

Cognitive impairment in patients with recurrent major depression disorder / 中华行为医学与脑科学杂志

Objective To explore the psychological process of cognitive impairment in patients with recurrent major depression disorder (MDD). Methods Patients with first-episode (n=30) and recurrent MDD (n=68) in the outpatient department of the First Affiliated Hospital of Zhengzhou University from Sep-tember 2016 to December 2017 were collected and healthy controls(n=30) were collected at the same time. According to HAMD-24 score,the group with recurrent attacks was further divided into recurrent attacks-on-set period (n=35) and recurrent attacks-remission period (n=33). All subjects were tested for cognitive function by MATRICS Consensus Cognitive Battery( MCCB). Results (1) In terms of cognitive function assessment,the scores of information processing speed ( 41. 27 ± 8. 44, 37. 00 ± 11. 68), working memory (40. 53±10. 33,41. 26±9. 37),attention/alertness ( 40. 50± 7. 25,39. 58± 8. 23),word learning ( 38. 83± 8. 39,38. 84±9. 57),visual memory(39. 30±14. 03,37. 57±10. 42),reasoning and problem solving(37. 80± 9. 55,38. 78±8. 66),and social cognition (34. 63± 9. 66) in the first-episode group and the recurrent group were lower than those in the control group ( information processing speed ( 48. 23±7. 63),working memory (50. 57±7. 84),attention/alertness (51. 63±7. 41),word learning (45. 57±9. 55),visual memory (50. 57± 8. 42),reasoning and problem solving (50. 03±9. 87) and social cognition (47. 90±19. 01)) (F=12. 818, 12. 173,26. 166,6. 004,15. 085,18. 331,10. 218,P<0. 05); (2) In working memory and social cognition, the difference was statistically significant in the first-episode group,repeated attacks-episodes(working mem-ory:37. 89±9. 15,social cognition:28. 48± 8. 35) and recurrent group-remission( working memory:44. 85± 8. 32,social cognition:40. 44 ± 11. 36, P=0. 010,0. 001). Further comparisons revealed that the score of working memory in repeated attacks-episodes was lower than that in recurrent group-remission (P=0. 003). the score of social cognition in the first-episode group was higher than that in the recurrent-attack period group (P=0. 038). The score of social cognition in the recurrent group-remission was higher than that in re-current-attack period group (P<0. 01). Conclusion There is cognitive impairment in the first episode and the recurrence MDD. The impairment in the recurrent episode is more serious than that in the first episode of depression. The impairment of social cognitive in the recurrent attacks-episodes is more serious than that in the first-episode of depression.

Cortisol rhythm disorder and influencing factors of patients with anxious depression / 中华行为医学与脑科学杂志

Objective To explore the relationship between anxious depression and cortisol rhythm disorder and influencing factors of immune metabolism. And to look for biological markers that can be used for clinical diagnosis and treatment of anxious depression. Methods Totally 43 patients with anxious depres-sion(A-MDD group) and 44 patients with non-anxious depression matched by sex,age and years of education (NA-MDD group)were recruited. Electrochemiluminescence was used to detect the plasma levels of adreno-corticotropic hormone(ACTH),cortisol(COR),c-reactive protein(CRP) and IL-6. Automatic biochemical a-nalysis was used to detect plasma total TC,TG,HDL and LDL. Using logistic regression analysis to discuss the influencing factors of anxiety depression. Results The comparison between the two group showed that the age of first onset,BMI and SBP in the A-MDD group((35. 15±11. 56),(24. 11±3. 03)kg/m2,(130. 09 ±13. 33)mmHg) were significantly higher than those in the NA-MDD group((31. 34± 14. 08),( 22. 70± 3. 19)kg/m2,( 121. 89±12. 49)mmHg)(t=2. 631,2. 009,2. 964,all P<0. 05). The HAMD score and the factor scores of cognitive impairment,change of day and night,delay,sleep disorder and feeling of despair in the A-MDD group((31. 81±5. 39),(8. 03±3. 00),(1. 17±0. 70),(6. 88±1. 93),(4. 44±1. 44),(4. 67± 2. 37)) were significantly higher than those in the NA-MDD group((25. 25±5. 017),(3. 87±3. 12),(0. 79 ±0. 78),(4. 64±2. 22),(3. 34±1. 54),(3. 61±2. 02))(t=2. 297,6. 524,2. 505,5. 210,3. 452,2. 421,all P<0. 05). The plasma TG,CRP and IL-6 levels in the A-MDD group((1. 63±1. 11)mmol/L,(1. 20±0. 77) mg/L,(3. 54±1. 90) pg/L) were significantly higher than those in the NA-MDD group (( 1. 19 ± 0. 66) mmol/L,(0. 933±0. 89)mg/L,(2. 65±1. 34)pg/L) (t=2. 254,2. 250,2. 352,all P<0. 05). The incidence of cortisol disturbance was 72% in the A-MDD group,and 48% in the NA-MDD group,and the difference was statistically significant (χ2=5. 369 P=0. 020). Multivariate Logistic regression found that sleep disorder (β=0. 729,OR=2. 072,95%CI=1. 018-3. 119),IL-6(β=0. 583,OR=1. 792,95%CI=1. 168-2. 748),cog-nitive impairment (β=0. 099,OR=1. 104,95% CI=1. 022-1. 193),cortisol rhythm disorders(β=0. 075, OR=1. 078,95%CI=1. 014-1. 146) were the risk factors for anxious depression. Conclusion Anxious de-pression has a high incidence of cortisol rhythm disorder. The COR and IL-6 may be mediators of cortisol rhythm disorder. IL-6 and cortisol rhythm disorder together with sleep disorder and negative cognition consti-tute maybe high risk factors for anxious depression.

Association study on polymorphisms of cAMP signaling pathway with recurrent major depressive disorder / 中华行为医学与脑科学杂志

Objective@#To investigate the possible role of tag single nucleotide polymorphisms in cAMP signaling pathway in patients with recurrent major depressive disorder in Chinese Han population.@*Methods@#1 030 patients with recurrent major depressive disorder according to the DSM-Ⅳ criteria were recruited as case group and 851 age- and gender- matched healthy volunteers were recruited as control group.The sequenom mass spectrometry method was adopted to explore the genotype and allele frequency distributions of tag single nucleotide polymorphisms of cAMP signaling pathway in the two groups.@*Results@#The differences of genotype and allele frequencies of the ADCY7 gene loci rs1064448 and HTR2A gene loci rs17068986 were significant between case group and control group(P<0.05). The difference of the genotype frequencies(492∶423∶112, 356∶401∶91; 538∶392∶94, 414∶371∶61; 24∶165∶838, 3∶150∶694; 219∶468∶337, 139∶418∶237; 153∶481∶393, 115∶446∶286; 53∶286∶688, 25∶296∶524)of the ADCY9 gene loci rs2531995, BDNF gene loci rs10835210, rs7124442, CREB1 gene loci 4675690, rs2551645 and the HTR2A gene loci rs3125 were significant in case-control group(P<0.05); while the rest tagSNPs had no statistical difference in genotype and allele distribution frequencies in case-control group(P>0.05). In gender-specific analyses, the differences of the genotype and allele frequencies of the ADCY7 gene loci rs106448 and CREB1 gene loci rs2551645 were significant in male case-control group(P<0.05); the differences of the genotype(195∶177∶49, 193∶423∶41; 221∶158∶42, 237∶201∶28; 83∶188∶148, 85∶237∶122; 24∶113∶284, 10∶176∶281)of the ADCY9 gene loci rs2531995, BDNF gene loci rs10835210, CREB1 gene loci rs4675690, and HTR2A gene loci rs3125 were significant in male case-control group(P<0.05); while the rest tagSNPs had no statistical difference in genotype and allele distribution frequencies in male case-control group(P>0.05). The differences of the genotype and allele frequencies of the ADCY7 gene loci rs1064448 and HTR2A gene loci rs17068986 were significant in female case-control group(P<0.05). The differences of the genotype(16∶94∶497, 1∶73∶308; 136∶280∶189, 54∶181∶115)of the BDNF gene loci rs7124442 and CREB1 gene loci rs4675690 were significant in female case-control group(P<0.05). The differences of the allele frequencies(840: 372, 493: 267) of the ADCY9 gene loci rs2531995 were significant in female case-control group(P<0.05), while the rest tagSNPs had no statistical difference in genotype and allele distribution frequencies in female case-control group(P>0.05).@*Conclusion@#The ADCY7 gene loci rs1064448 and CREB1 gene loci rs4675690 are associated with recurrent major depressive disorder in Chinese Han population.

Total tumor perfusion value of CT in hepatocellular carcinoma with the tumor volume and Child-Pugh classification / 实用放射学杂志

Objective To investigate the correlation between tumor perfusion parameters and tumor volume and Child-Pugh classification in CT of hepatocellular carcinoma (HCC).Methods Fifty-six patients with hepatocellular carcinoma were selected to perform CT perfusion imaging.The parameters of the total tumor perfusion such as hepatic artery perfusion (HAP),portal vein perfusion (PVP)and hepatic perfusion index (HAPI)were calculated according to the degree of hepatic encephalopathy,albumin,bilirubin, clotting time,ascites for liver Child-Pugh classification.The relationship between the tumor or peritumoral perfusion parameters with tumor volume and Child-Pugh classification were analyzed.Results (1)There was no correlation between tumor or peritumoral perfusion with the tumor volume.(2)The difference of HAP,PVP and HAPI between the different Child-Pugh classification groups was statistically significant (P<0.000 1).(3)With the reduction of Child-Pugh classification,the tumor body HAP and HAPI values gradually decreased, while the PVP value increased gradually.Conclusion There is no correlation between the tumor volume of hepatocellular carcinoma with total tumor perfusion parameters.The differences in perfusion measurements between different Child-Pugh classification can intuitively and quantitatively reflect the reserve function of the liver.

Research progress of SALL4 gene in malignant tumor disease / 实用肿瘤学杂志

Malignant tumor is a serious threat to human health and its pathogenesis is complex , which caused by interaction of a variety of carcinogenic factors in the human body .SALL4 gene is a kind of newly dis-covered gene and it plays an important role in function of embryonic stem cell due to its protein transcription fac -tor with C2H2 zinc finger domain.Studies found that this gene mutation often results in occurrence of malignant tumor.This paper will summarize the molecular mechanism of SALL 4 in the occurrence and development of malig-nant tumor and its diagnosis and treatment on malignant tumor .

Antibacterial Effect of Platelets on Staphylococcus Epidermidis / 现代检验医学杂志

Objective To explore the antibacterial effect and mechanisms of platelets (PLT)on Staphylococcus epidermidis (SE).Methods Built infectious model of SE in vitro,whose final concentration was 105 CFU/ml in the reaction.Separately cocultured these models with PLT (the final concentration 400 × 109/L)-plasma (positive control)and BHI medium 12 hours later,and detected the antibacterial effect of PLT by making a liquid thinner and spreading counting method,and draw-ing antibacterial curve.Meanwhile,observed the bacterial structure by transmission electron microscope (TEM),and initially explored the antibacterial mechanism of PLT.Results The study showed the antibacterial effect of PLT on SE was very ob-vious,which appeared later than the plasma (M)group,but enduring.The images of TEM showed an electronlight region appeared in the centre of bacterium,contained condensed DNA molecules and leaded to slower fission.Conclusion PLT can damage the DNA structure of SE,and then affect the fission of SE,finally inhibit the proliferation of SE.

Effects of obesity induced by high-fat diet on T lymphocyte subsets in adipose tissue in mice / 中国免疫学杂志

Objective:To study the effects of obesity induced by high-fat diet on T lymphocyte subsets in the adipose tissue in mice.Methods:C57BL/6 male mice were randomly divided into 2 groups, the normal control group and high-fat diet group.After feeding 16 weeks, serum was separated and CHOL, TG, HDL, LDL and glucose levels were measured by automatic biochemical analyzer.The concentrations of TNF-αwere determined by ELISA kit.FACS was used to analyze the number of T cells and the percentage of subgroup in epididymal fat adipose tissue.Results:Compared with control group,body weight,weight gain,epididymal fat pad weight,perirenal fat weight,blood lipids,glucose and TNF-αwere significantly increased in high-fat diet group,but there were no difference in the thymus index and spleen index between the two groups.Compared with the control group,the mice fed a high-fat diet had increasing proportion of CD3+T cells,CD4+T cells and CD8+T cells in adipose tissue and there was a significant increase on the proportion of Th1 and Th17 sublineage in the HFD group.Conclusion:High-fat diet induced obesity can lead to the increasing proportion of CD3+T cells,CD4+T cells and CD8+T cells in epididymal fat pads and generate a progressive Th1 and Th17 bias.

Effect of glucocorticoid replacement therapy on glucose-lipid metabolism in patients with 21-hydroxylase deficiency / 中华内分泌代谢杂志

Objective21 -hydroxylase deficiency ( 21-OHD) patients are at high risk of developing metabolic syndrome.Low dose of glucocorticoid is crucial in the treatment.This study is to investigate the effect of glucocorticoid therapy on potential metabolic disorders.Methods Thirty-two treated and 31 untreated 21-OHD patients were recruited.The components of metabolic syndrome were investigated in both groups.Results Serum testosterone [ (0.61 ±0.12 vs 4.10±0.66) ng/ml,P＜0.01 ],17-(OH) progesterone[ 17-OHP,( 14.83±3.48 vs 48.52±4.72 )ng/ml,P＜0.01 ],dehydroepiandrosterone sulfate[ DHEAS,(55.7±23.6 vs 405.2±65.7 ) μg/dl,P＜0.01 ],and ACTH[ ( 105.8±44.7 vs 617.4± 163.3 ) pg/ml,P＜0.01 ] levels were significantly reduced,whereas body mass index [ ( 23.2±0.9 vs 21.1 ±0.5 ) kg/mz,P＜0.05 ],systolic blood pressure [ ( 120.5 ± 1.3 vs 115.5 ± 1.8 ) mm Hg,P＜0.05,1 mm Hg =0.133 kPa ],serum triglyceride [ ( 1.8±0.2 vs 1.1 ±0.1 ) mmol/L,P＜0.05 ],and homeostasis model assessment for insulin resistance [ HOMA-IR,( 2.07 ± 0.27 vs 1.16 ± 0.12 ),P ＜ 0.01 ] were markedly increased in glucocorticoid treated group.Multivariates regression analysis showed that body mass index was the most important risk factor for HOMA-IR.The correlation of glucocorticoid replacement and HOMA-IR was not observed after adjustment of age and body mass index.ConclusionGlucocorticoid treatment increases body weights,which leads to insulin resistance and metabolic disorders for 21-OHD patients.More attention should be paid to control BMI and metabolic disturbances in 21-OHD patients.

Association of obesity and hyperandrogenemia with insulin resistance in women with polycystic ovary syndrome / 中华内分泌代谢杂志

Thirty healthy women and 101 patients with polycystic ovary syndrome (PCOS) were recruited. According to serum testosterone (T) level and homeostasis model assessment for insulin resistance (HOMA-IR) ,the correlation of T and body mass index (BMI) with insulin resistance was analyzed. The results showed that there were 39. 8％ normal,24. 5％ overweight,and 35.7％ obese among 101 PCOS patients. However,there were no significantly differences in BMI, fasting plasma glucose ( FPG ), triglyceride ( TG ), total cholesterol ( TC), low-density lipoprotein-cholesterol ( LDL-C), high-density lipoprotein-cholesterol ( HDL-C ), and HOMA-IR levels between PCOS patients with hyperandrogenemia ( T ≥ 0. 51 μg/L) and normal androgenemia ( T ＜ 0. 51 μg/L). BMI, FPG, TG, TC, and LDL-C levels were higher and HDL-C level was lower in patients with insulin resistance( HOMA-IR ≥ 2. 29 ) than in patients without insulin resistance ( HOMA-IR ＜ 2. 29, P＜0. 05 or P＜ 0. 01 ). Serum T levels were not significantly different between two groups. HOMA-IR was significantly correlated with BMI(P＜0. 01 ), not with serum T, suggesting that the gain of body weight is correlated with insulin resistance independent of serum T level.

Mechanism of varied responsiveness to ACTH in patients with polycystic ovary syndrome / 中华内分泌代谢杂志

Objective To explore the potential mechanism of adrenal androgen excess in patients with polycystic ovary syndrome (PCOS), ACTH stimulation test was conducted and the polymorphisms in the promoter region of CYP21 A2 gene were screened to verify the variations related to the responsiveness to ACTH stimulation. Methods 30 healthy women and 101 PCOS patients, matched for age, were recruited from Ruijin hospital. Blood biochemical examinations were taken and sex hormone profiles obtained at baseline. 17 hydroxyprogesterone( 17OHP)was measured at 0 and 60 min in an ACTH stimulation test. The -710 bp -1 bp of the promoter region of CYP21A2 was sequenced in 87 PCOS patients and 30 control subjects. Results According to the post-stimulation 17 OHP levels obtained from 30 healthy women,PCOS patients were allocated into one group with high responsiveness to ACTH ( HR-PCOS, n = 21) and the other with normal responsiveness to ACTH ( NR-PCOS, n = 80). Compared with NR-PCOS subjects, HR-PCOS patients had higher testosterone( P<0.05), basal and post-stimulation 17OHP (both P<0.01)and dehydroepiandrosterone sulfate levels (P<0.05 or P<0.01) .whereas serum cortisol and androstenedione levels were not significantly different before and after ACTH stimulation test. The genotypes of locus -535 were well correlated with post-stimulation 17OHP levels (r = 0. 20,P = 0. 03) in PCOS patients and the control subjects. The genotype T/T or allele T was significantly more frequent in subjects with a higher fertile of post-stimulation 17OHP (P<0.05 or P<0. 01). The odds ratio(OR)for higher responsiveness to ACTH in women with allele T at -535 was 3. 69 (95% CI 1. 69-8. 06,P = 0. 000 7). Conclusions The PCOS patients with higher responsiveness to ACTH are characterized by severe hyperandrogenemia and adrenal androgenexcess,suggesting that adrenal androgen excess in some PCOS patients may be due to higher responsiveness to ACTH. The polymorphism of -535C>T in the promoter region of CYP21 A2 may play a role in regulating 21 hydroxylase gene expression and further influencing 17OHP responsiveness to ACTH.

Study on a novel androgen receptor gene mutation causing androgen insensitivity syndrome / 中华内分泌代谢杂志

Objective To investigate the clinical and genetic characteristics in two patients with androgen insensitivity syndrome. Methods Clinical features and laboratory data were collected from the patients and their families. All exons of the androgen receptor gene were amplified by PCR and PCR products were sequenced. Results Patient 1 presented with unambiguous female external genitalia, unilateral gynecomastia and primary amenorrhea. He did not have axillary hairs or pubic hairs. Patient 2 presented with undervirilization including scanty body hairs, gynecomastia and hypospadias. A missense mutation of