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Objective To study the clinical characteristics,cardiac magnetic resonance (CMR)features,and genetype of hypertrophic cardiomyopathy (HCM) in neonates.Method HCM newborns diagnosed at pediatric department of Anzhen Hospital Affiliated to Capital Medical University from January 2015 to December 2018 were retrospectively collected.The clinical manifestations,imaging features and genetype were analyzed.Result During the study period,there were 11 227 deliveries and 11 397 live births.52 of the parturient women were diagnosed as HCM before or during pregnancy (0.46％,52/11 227).54 neonates were delivered from HCM mothers.Among them,5 were diagnosed as HCM (5/11 397,0.04％).In addition,there was another infant patient who was admitted from another hospital.In total,6 HCM infants were included in this study,with 4 males and 2 females.The average gestational age of the infants was (36.6 ± 1.2) weeks,with 3 preterm infants,and the others were full-term infants.The median age of diagnosis was 1 day.The clinical manifestation was that 4 patients needed rest in the course of suckling,3 of them also had accompanied symptoms,with pale face,cyanosis while crying and sweating in each case.CMR showed that the ventricular septum was (6.80 ± 1.78)mm,ejection fraction was (60.0 ± 2.8)％.All six patients showed septal thickening on CMR,including a case with right ventricular myocardial hypertrophy,another with left ventricular outflow tract obstruction and late gadolinium-enhanced.The infants were all treated with metoprolol.They were followed up until 6 months to 2 years old.Among them,4 cases had no progress in myocardial thickening.Two cases had progressive myocardial thickening,one of them was diagnosed as end-stage HCM at 2 year-old.Three MYBPC3 mutations,one MYH7 gene mutation,one MYH7 gene mutation combined with TMPO gene mutation and one RYR2 gene mutation were detected.Conclusion The neonatal HCM is characterized by thickening of ventricular septum,outflow tract obstruction and delayed enhancement of CMR.The most common HCM mutations were MYBPC3 and MYH7,the most common clinical symptoms were breast feeding interruption,followed by cyanosis,pale and sweating.It is suggested that beta-blockers should be recommended for neonates with hypoxic episodes or outflow tract obstruction.
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Objective To analyze the epidemiological characteristics and influence factors of human brucellosis in Jilin Province and provide scientific basis for enacting prevention and control strategy to brucellosis in the new period.Methods Descriptive epidemiological methods were used to analyze the epidemiological characteristics (regional distribution,time distribution,population distribution,etc.),influencing factors (risk factors,protective measures and epidemic prevention),epidemic links,detection methods,clinical stages and prognosis of reported brucellosis cases in Jilin Province from 2011 to 2017.Results From 2011 to 2017,12 116 cases of brucellosis were reported in Jilin Province,with an average incidence of 6.30/100 000.The annual incidence rates were 7.51/100 000,7.11/100 000,7.36/100 000,6.58/100 000,5.90/100 000,5.38/100 000 and 4.24/100 000,respectively.The reported cases were mainly distributed in Songyuan City and Baicheng City,accounting for 73.29％ (8 880/12 116) of the total number of reported cases;the time was from January to July,and the peak was from March to May.The age of onset ranged from 20 to 70 years old,mainly in young and middle-aged adults,accounting for 95.86％ (11 615/12 116) of the total number of reported cases.The following factors were studied:to take protective measures rate,human and animal mixed live,the same water source,colony house housing disinfection,manage abortion,buy animal quarantine,raise livestock immunity,and the proportion of these factors in each year was 24.38％ to 43.33％,3.11％ to 17.35％,63.68％ to 76.58％,25.40％ to 35.07％,21.66％ to 34.49％,9.32％ to 29.66％,26.09％ to 45.45％,respectively.The main infection source was sick sheep,accounting for 96.72％ (11 718/12 116).Skin mucosa was the main route of transmission,followed by digestive tract,accounting for 61.55％ (7 458/12 116) and 34.17％ (4 140/12 116),respectively.The main transmission factors were apoblema and flying dust,accounting for 55.68％ (6 746/12 116) and 35.62％ (4 316/12 116),respectively.The number of reported cases of brucellosis was 90.55％ (10 971/12 116) through passive monitoring.The clinical stage was mostly acute,accounting for 92.01％ (11 148/12 116).Healing and improvement accounted for 60.80％ (7 367/12 116) and 37.93％ (4 596/12 116),respectively.Conclusions Brucellosis has dropped slightly in Jilin Province in 2011-2017,but remains high;the epidemic situation is still grim.We should further strengthen monitoring,health education and health promotion,team construction,in order to effectively control the occurrence of human brucellosis.
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In the past two years, a line of basic and genetic findings have been produced in the field of type 2 diabetes. Some evidence has suggested that mature β cell under long-term metabolic stress could de-differentiate into pre-endocrine cells and re-differentiate into α and PP endocrine cells. Several key factors were reported with genetic modified animal models in the past two years. A novel adipokine, Asprosin was found to control insulin resistance and food intake in both humans and mice. Additionally, researchers reported that gut microbiota was associated with the development of type 2 diabetes, and a few bacteria or certain enterotype could be valuable in the prediction of prevention and clinical intervention for diabetes. The genetic composition for missing heritability of type 2 diabetes and obesity was revealed with the next-generation sequencing strategy. Importantly, scientists at home and abroad made a significant progress in the field during the past few years, which should be reviewed here. (Chin J Endocrinol Metab, 2018, 34: 605-609)
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Objective · To explore the relationship between baseline lipid profiles and long-term cardiovascular outcomes after intervention with hypoglycemic drugs metformin and glipizide and to detect lipid components that can predict the long-term cardiovascular effect of metformin and glipizide.Methods· Liquid chromatography-quadrupole time of flight-mass spectrometry (LC-QTOF/MS) was used to measure 119 lipid components in baseline serum for 116 patients with type 2 diabetes (T2DM) and atherosclerotic heart disease (CHD) who were treated with glipizide (56 cases,the glipizide group)or metformin (60 cases,the metformin group).Cardiovascular complex end points (including cardiovascular death,all-cause death,nonfatal myocardial infarction,nonfatal stroke,and arterial revascularization) of all patients were followed up.The relationship between lipid components and cardiovascular complex end points was analyzed with Logistic regression analysis.The category-free net reclassification index (cfNRI) and the integrated discrimination improvement (IDI) were used to evaluate whether lipid components are helpful for predicting the recurrent cardiovascular events.Results· The differences in baseline drug distribution,clinical characteristics,and biochemical indexes between two groups were not statistically significant,except for diuretics use,serum PC (O-34:2) level,and SM (d18:0-24:0) level.Logistic regression analysis showed that baseline ChE (20:4) was a protective factor for recurrent cardiovascular events in the glipizide group (OR=0.87,P=0.039).ChE (20:4) significantly increased the cfNRI and IDI of cardiovascular complex end points by 69％ and 0.07,respectively (P=0.011,P=0.028).Baseline SM (dl 8:1-22:0) was a risk factor for recurrent cardiovascular events in the metformin group and all participants (OR=1.65,P=0.039;OR=1.64,P=0.014).SM (d18:1-22:0) significantly increased the cfNRI of cardiovascular complex end points in the metformin group and all participants by 74％ and 55％,respectively (P=0.012,P=0.005).Conclusion· Of 119 lipid components measured with LC-QTOF/MS,baseline ChE (20:4) is a protective factor and SM (d18:1-22:0) is a risk factor for cardiovascular complex end points in with T2DM and CHD patients after long-term treatment with metformin and glipizide.Both lipid components are helpful for improving the prediction of recurrent cardiovascular events.
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Objective:To investigate the expression pattern of microRNA-146a in Brucella patients and its correlation with antibody titers.Methods: By using real time PCR assay, expression levels of microRNA-146a in sera samples from 20 brucellosis patients and 20 healthy volunteers were analyzed.The correlation between expression level of microRNA-146a and serum antibody titers were analyzed with SPSS17.0.Results: A quantification curve of microRNA-146a was constructed with synthesized standard.Expression levels of microRNA-146a among brucellosis patients were significantly lower than those in 20 healthy volunteers (P<0.001).For brucellosis patients,the expression level of microRNA-146a was negatively related with antibody titers (P<0.05). Conclusion:Expression of miRNA-146a in brucellosis patients was significantly inhibited and negatively related with antibody titer.
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[Summary] A dozens of variants in intron 1 of FTO gene have been found to be significantly associated with obesity by a serious genome-wide association studies (GWAS) in past eight years.Very recently,The New England Journal of Medicine published an important genetic study of obesity,which challenged the point of FTO causing obesity directly.The researchers find one of the variants changes the binding ability of upstream regulator to IRX3/IRX5 and thus promotes IRX3/IRX5 expression instead of FTO.Which one is the real causal gene of common obesity,FTO,IRX3/5,both,or neither? All these questions need to be answered.
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Objective To investigate the irfluence of PET/CT positioning on the effect of late-course accelerated hyperfractionated and three-dimensional conformal radiotherapy for stage Ⅲ lung squamous cell carcinoma.Methods 79 stage Ⅲ lung squarnous cell carcinoma patients were enrolled and divided into PET/CT group(n =37 cases,PET/CT positioning) and general CT group (n =42 cases,general CT positioning) according to the way of positioning.The conventional fractionated 3 DCRT( about 40 Gy) was used in previous 2/3 time and hyperfractionated( about 1.5 Gy) was used in later 1/3 time.Both groups used chemotherapy as adjuvant therapy.Full course of the treatment was a month or so.And the clinical efficacy and a variety of adverse reactions of the two groups was observed.Results The total rate of remission in PET/CT group were 73.0％,and 71.4％ in general CT group,and there was no significant difference in the two groups (x2 =1.347,P ＞ 0.05 ).The major radiation injury were radioactive pulmonary injury and tracheal damage,incidence rates were 56.8％and 57.1％ in acute stage,and there was no significant difference in the two groups( x2 =2.178,P ＞ 0.05 ) ; but in late stage 69.0％ in general CT group was significantly higher than 62.2％ in PET/CT group(x2 =4.142,P ＜0.05).Ater followed-up 1 year,the recurrence rate of hillar and mediastinal lymph node in PET/CT group was 43.7％,lower than that of the general CT group( 59.4％ ) ( x2 =4.732,P ＜ 0.05 ).Conclusion PET/CT positioning in late-course accelerated hyperfractionated and three-dimensional conformal radiotherapy for stage Ⅲ lung squamous cell carcinoma could reduce late stage radioactive pulmonary injury and tracheal damage,lower the recurrence rate of hillar and mediastinal lymph node.
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Objective: To compare the myocardial protection effect between off-pump coronary artery bypass(OPCAB)and on-pump coronary artery bypass. Methods: 70 patients were divided into 2 groups:off-pump coronary artery bypass(beating group,n=35), and cold blood cardioplegia solution group(cold group,n=35). There was no statistical difference in heart function, sex, age and weight before operation. Blood samples were taken for determine the serum concentration of creatine kinase MB isoenzyme (CK-MB) and troponin-T(cTnT) peri-operatively. Myocardial ultrastructure was also observed. Results: CK-MB, cTnT release in beating group during bypass and post-bypass was lower than that in cold group (P