Esophagogastric variceal bleeding is a life-threatening complication of cirrhotic portal hypertension. Transjugular intrahepatic portosystemic shunt (TIPS) is an effective method for the treatment and prevention of esophagogastric variceal bleeding; however, right timing of TIPS and selection of appropriate candidates for TIPS are of vital importance in improving patients’ survival rate and reducing mortality rate. This article reviews the intended population and right timing of TIPS for the treatment and prevention of esophagogastric variceal bleeding in liver cirrhosis.

Objective:To investigate the association of non-high-density lipoprotein cholesterol (non-HDL-C) level with non-alcoholic fatty liver disease (NAFLD) in patients with early-onset type 2 diabetes.Methods:The clinical data of 100 patients with early-onset type 2 diabetes who were admitted to Beijing Chaoyang Diabetes Hospital from June 2008 to June 2012 were retrospectively analyzed. These patients were divided into a NAFLD group and a non-NAFLD group, with 50 patients in each group, according to the presence or absence of NAFLD. Clinical data, biochemical indices [blood lipids, blood glucose, liver function, uric acid, high-sensitivity C-reactive protein], and glycosylated hemoglobin were collected. Body mass index and non-HDL-C levels were recorded. The association of non-HDL-C level with NAFLD in patients with early-onset type 2 diabetes was analyzed using logistic regression analysis. The predictive value and optimal cut-off point of non-HDL-C for early-onset T2 diabetes complicated by NAFLD were evaluated using the receiver operating characteristic curve.Results:Body mass index, waist-to-hip ratio, systolic blood pressure, and diastolic blood pressure in the NAFLD group were (28.55 ± 3.47) kg/m 2, (0.94 ± 0.05), (121.00 ± 10.25) mmHg (1 mmHg = 0.133 kPa), and (80.00 ± 8.51) mmHg respectively, which were significantly higher than (23.95 ± 2.87) kg/m 2, (0.90 ± 0.07), (115.20 ± 13.36) mmHg, and (73.70 ± 7.75) mmHg in the non-NAFLD group ( t = -7.23, -3.11, -2.44, -3.87, all P < 0.05). Non-HDL-C, total cholesterol, triglyceride, low-density lipoprotein cholesterol, alanine aminotransferase, aspartate aminotransferase, γ-glutamyl transpeptidase, uric acid, high-density lipoprotein cholesterol, and glycosylated hemoglobin levels in the NAFLD group were (4.88 ± 3.01) mmol/L, (6.33 ± 3.23) mmol/L, (4.50 ± 6.03) mmol/L, (3.27 ± 1.26) mmol/L, (39.80 ± 23.58) U/L, (27.72 ± 13.83) U/L, (52.96 ± 46.16) U/L, (350.32 ± 102.12) μmol/L, (1.26 ± 0.88) mg/L, and (9.3 ± 2.5)%, respectively, which were significantly higher than (3.35 ± 1.03) mmol/L, (4.81±1.24) mmol/L, (1.87 ± 2.29) mmol/L, (2.70 ± 0.71) mmol/L, (23.76 ± 13.45) U/L, (21.98 ± 10.13) U/L, (35.24 ± 35.41) U/L, (296.04 ± 88.26) μmol/L, (0.22 ± 1.54) mg/L, (8.2 ± 2.7)% in the non-NAFLD group ( t = -3.40, -3.11, -2.88, -2.81, -4.18, -2.36, -2.14, -2.85, -4.12, -2.08, all P < 0.05). Logistic regression analysis showed that the increase in non-HDL-C level was an independent risk factor for T2 diabetes mellitus complicated by NAFLD ( OR = 3.064, 95% CI: 1.604-5.852, P = 0.001). The receiver operating characteristic curve analysis results showed that the optimal cut-off point, sensitivity, and specificity of non-HDL-C level to predict NAFLD were 3.60 mmol/L, 0.700, and 0.620 respectively. Conclusion:An increase in non-HDL-C level is an independent risk factor for NAFLD complicated by early-onset type 2 diabetes When non-HDL-C is > 3.60 mmol/L, NAFLD can be predicted.

Acute variceal bleeding (AVB) continues to be a fatal complications of cirrhotic portal hypertension. Although the hospitalization rate of patients with acute variceal bleeding has significantly decreased with the advancement of medical technology, and the mortality rate has dropped from 50% three decades before to 15%～20% now, the in-hospital mortality rate is still high and is closely related to the severity of cirrhosis, ranging from 0 in Child A grade to 32% in Child C grade. Therefore, it is a good choice to risk stratify these patients and individualize the treatment method according to the expected risk, as the risk of death in patients with acute variceal bleeding is highly heterogeneous. This article mainly reviews the current status of risk stratification and treatment of acute variceal bleeding in cirrhosis.

Objective: To summarize the detailed clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation, in order to improve the understanding of the disease. Methods: The clinical data and genetic results of 40 benign infantile epilepsy patients with PRRT2 mutation who were diagnosed and treated in the neurology department of National Center for Children's Health (Beijing) , Beijing Children's Hospital affiliated to Capital Medical University from January 2002 to October 2017 and their affected family members were analyzed. Results: Forty benign infantile epilepsy patients were recruited for this study, with 18 males and 22 females. The age at onset ranged from 3 to 15 months (median: 4.6 months). All patients presented focal seizures with or without secondary generalization. Decreased responsiveness, eyes stare and cyanosis were commonly observed. A cluster of seizures was observed in 20 patients at the beginning of the disease, but interictal clinical conditions were normal. Interictal electroencephalograms were normal in 32 cases but 8 cases showed small amount scattered spike and spike wave. Two patients developed paroxysmal kinesigenic dyskinesia in 30 months and 12 years respectively after the cessation of the seizure. Thirty-four affected pedigree members had a history of paroxysmal episodes in 24 families, including 19 individuals of infantile afebrile convulsion, 6 individuals of paroxysmal kinesigenic dyskinesia during childhood or adulthood, 8 individuals of infantile convulsion and paroxysmal kinesigenic dyskinesia during adulthood, one individual of infantile febrile convulsion. The follow-up time ranged from 6 months to 15 years. Thirty-six patients were treated with antiepileptic drugs and their seizures were easy to control. Four patients stayed seizure free without medication (all <2 years). Seizure stopped in 24 patients within 1 year of age, in 10 patients stopped during 12-24 months and in 2 patients stopped during 24-36 months. All cases had PRRT2 mutations, 7 cases of a complete PRRT2 deletion, 33 cases of PRRT2 heterozygous mutations consisted of 28 frameshift mutations and 5 missense mutations. Of these heterozygous mutations, 30 cases were hereditary mutations while 3 were de novo mutations. Nine family members harbored the same PRRT2 mutations without any symptom. Conclusions Benign infantile epilepsy with PRRT2 mutation is characterized by early onset of seizure mostly before 6 months, focal seizures with or without secondary generalization, a high incidence of a cluster of seizures, rapid resolution of seizure by antiepileptic drugs and cessation of seizure mostly before 2 years of age. Partial patients may develop paroxysmal kinesigenic dyskinesia increasing with age. Most PRRT2 gene mutations are heterozygous mutations, and a few are the overall deletion of PRRT2 gene.

[Abstract] Objective: To investigate the effect of apatinib (APA) combined with cisplatin (DDP) on the proliferation, invasion and migration capacity of gastric carcinoma (GC) cells and its molecular mechanism. Methods: Cancer and para-cancerous tissue samples resected from 50 GC patients, who were surgically treated in Wuwei People's Hospital from January 2016 to June 2019, were collected for this study; in addition, GC cell lines MGC803 and SGC7901 were also collected. qPCR was used to detect the HMGA2 expression in tissues and mRNA expressions of molecules related to cell proliferation, migration and invasion in GC cell lines. MGC803 and SGC7901 cells were transfected with pcHMGA2 by liposome transfection technology. After treatment with DDP and APA at different concentrations, the cells were divided into NC, pcHMGA2, pcHMGA2+DDP and pcHMGA2+DDP+APA groups. Protein expression of HMGA2 in GC cells was detected by Western blotting, and proliferation, migration and invasion of the cells were detected by MTT and Transwell assay, respectively. Results: The mRNA expression of HMGA2 in GC tissues was higher than that in para-cancerous tissues (P<0.05), and the survival rate of GC patients in the high expression group was significantly reduced (P<0.01). DDP significantly inhibited the proliferation, invasion and migration of MGC803 and SGC7901 cells (all P<0.01); the proliferation, invasion and migration of MGC803 and SGC7901 cells in DDP+APA group significantly decreased (all P<0.01) as compared with DDP group; APA significantly enhanced the inhibitory effect of DDP on HMGA2 expression in GC cells (P<0.01); APA enhanced the anticancer activity of DDP against GC by down-regulating HMGA2 expression. Conclusion: APA promotes the anticancer activity of DDP against GC, and its molecular mechanism is the promotion of the inhibitory effect of DDP on HMGA2 expression.

Gastroesophageal variceal bleeding is the life-threating complication of cirrhotic portal hypertension, and transjugular intrahepatic portosystemic shunt (TIPS) is an effective therapy for portal hypertension-related complications. TIPS can be used for the prevention of first-time bleeding in patients with recurrent or intractable ascites. TIPS should be performed as early as possible for patients at a high risk of acute variceal bleeding (Child-Pugh class C < 14 points or Child-Pugh class B > 7 points with active bleeding on endoscopy or hepatic venous pressure > 20 mmHg). TIPS is an effective salvage therapy for acute variceal bleeding with failure after standard treatment, and is also a second-line option for preventing variceal rebleeding.

Objective:To quantitate the association between birth weight and phenotypes of physical indicators in adulthood, i.e. BMI and waist circumference (WC) and to what degree genetic or environmental factors affect birth weight-obesity association.Methods:A total of 6 623 gender matched twin pairs aged 25 to 79 years were recruited through the Chinese National Twin Registry. The twins reported their own birth weight, current height and weight, and WC using a self-administered questionnaire. BMI was calculated according to the self-reports of body height and weight. Within twin-pair design was used to quantitate the association between birth weight and phenotypes related to obesity while bivariate structural equation models were used to decompose the phenotype correlation.Results:After adjusted for multiple factors, twin-pair analyses within monozygotic (MZ) showed that, on average, a 1.0 kg increase in birth weight corresponded to an increase of 0.33 kg/m 2 in BMI and 0.95 cm in WC in adulthood ( P<0.001). Bivariate structural equation models showed significant positive unique environmental correlation between birth weight and the two obesity-related phenotypes. Conclusion:The study supported the role of twin-specific supply line factors on relationship between birth weight and physical indicators in adulthood.

Objective:To analyze the heritability of coronary heart disease (CHD) among the Chinese twin adults.Methods:A total of 20 477 same-sex twin pairs aged 25 years and older from the Chinese National Twin Registry were interviewed. Structure equation model was used to estimate the heritability of CHD.Results:After adjusting for age and gender, the overall heritability of CHD was 0.75(0.68-0.81). Stratified analyses showed that genetic factors play a more important role in CHD incidence in ≥40 years or female twins. While the development of CHD was mainly influenced by environmental factors in 25-39 years or male twins.Conclusion:CHD is influenced by both genetic and environmental factors and the heritability is high.

Objective:To explore the genetic and environmental effects on alcohol intake.Methods:Data on 9 231 pairs of adult twins of the same sex was collected from the Chinese National Twin Registry (CNTR), between 2015 and 2018 and used in this study. Structural equation model was used to estimate the effects of genetic and environmental factors on alcohol intake.Results:A total of 9 231 pairs of twins were included in the analysis, of which 6 085 pairs were monozygotic (MZ). The average age of MZ was (36.91±13.07) years old, and males accounted for 56.80 %. The average age of dizygotic twins (DZ) was (35.22±12.48) years old, and males accounted for 55.91 %. There were 350 pairs of alcohol-drinking twins were with high-risk, accounting for 1.90 % and another 367 pairs (1.99 %) were with medium-risk. Alcohol-drinkers with medium-risk were affected by additive genetics, common and unique environmental factors, seen among the twins. The overall heritability appeared as 24.3 % (95 %CI: 0 to 56.8 %). Furthermore, 50.7 % of the variation (95 %CI: 20.4 %-79.0 %) could be explained by the common environmental factors and 24.9 % (95 %CI: 18.3 %-36.5 %) by unique environmental factors. High-risk related drinking behavior was affected by both common and unique environmental factors. The common environmental component appeared as 75.6 % (95 %CI: 69.6 %-80.8 %) and unique environmental component as 24.4 % (95 %CI: 19.2 %-30.4 %), respectively. Gender difference was seen in the heritability of those with medium or high-risk drinking behaviors. The heritability of men was 30.8 % (95 %CI: 9.8 %-53.5 %), while in women it was mainly affected by the environment. Conclusion:Both alcohol drinkers with medium and high-risk drinking behaviors were mainly affected by the environment factors and gender. With the increase of drinking volume, the effect of environment on drinking behaviors became more obvious.

Objective:To describe the differences in body mass index (BMI) distribution in adult twins registered in Chinese National Twin Registry (CNTR), and provide evidence for the risk factor analysis and prevention and control of overweight or obesity.Methods:A total of 32 725 twin pairs aged 18 years and above who completed the questionnaire survey during 2010-2018 and had complete registered information in CNTR and normal body weight and length were included in the analysis on the population and region specific distributions of BMI of twin pairs and the difference in BMI in twin pairs.Results:The twin pairs included in the analysis were aged (34.6±12.4) years, the twin pairs of same gender accounted for 79.7%. The average BMI was 22.5 kg/m 2. The overall prevalence of obesity and overweight was 4.9% and 23.7%, respectively. Participants who were men, 50-59 years old, married, had lower education level, and lived in northern China had higher overweight rate and obesity rate ( P<0.001). The difference in overweight or obesity prevalence between monozygotic (MZ) twin pars and dizygotic (DZ) twin pairs was not significant, but firstborn twin pairs had slightly higher rates of overweight and obesity than later-born twin pairs ( P<0.05). The analysis in same gender-twin pairs indicated that the difference in BMI was associated with age (trend test: P<0.001), and the difference was more obvious in DZ twin pair in MZ pair and this difference increased with age. The concordant rate of BMI was higher in MZ twin pairs than DZ twin pairs ( P<0.05). Conclusion:The distribution of BMI of twin pairs varied with population and region and BMI varied with age due to its genetic nature.