Objective To explore the effects of the pre-pregnant body mass index(BMI) and the pregnancy growth on the mater-nal and neonatal outcomes .Methods 250 pregnant women with the built file ,regular antenatal inspection and hospital delivery in our hospital during 2011 were selected and divided into the emaciation group ,the appropriate group and the obesity group according to the pre-pregnant BMI .The occurrence rates of cesarean section ,fetal macrosomia ,low birth weight ,postpartum hemorrhage ,ges-tational diabetes ,gestational hypertension disease ,fetal distress ,neonatal asphyxia and puerperal infection were compared among the various groups .In addition ,according to the different growth amplitudes of pregnancy BMI ,the pregnant women were re-divided in-to 3 groups(weight gain insufficient group ,weight gain appropriate group and weight gain overmuch group ) and the different ma-ternal and neonatal outcomes were compared .Results The occurrence rates of cesarean section ,macrosomia ,gestational diabetes and gestational hypertension disease in the obesity group were significantly higher than those in the emaciation group and the appro-priate group(P<0 .05) ,while the occurrence rate of the low birth weight in the emaciation group was significantly higher than that of the appropriate group and the obesity group(P<0 .05);the occurrence rates of cesarean section ,macrosomia ,gestational diabetes and gestational hypertension disease in the weight gain overmuch group were significantly higher than those in the weight gain in-sufficient group and the weight gain appropriate group(P<0 .05) ,while the occurrence rate of low birth weight in the weight gain insufficient group was significantly higher than that of the weight gain appropriate group and the weight gain overmuch group (P<0 .05) .Conclusion The maternal and neonatal outcomes in the pregnant women with pre-pregnant BMI exceeding the standard and pregnant BMI overmuch growth are very worrying .The growth of pre-pregnant BMI and pregnant BMI is one of the important indi-cators for monitoring the maternal and neonatal complications .

Objective·To establish a reliable alcoholic liver disease mouse model (ALDNM) that mimics the drinking pattern of alcoholic liver disease (ALD) patients.Methods·Using the self-designed feeding tubes and liquid diet,ALDNM model was developed through chronic feeding combined with acute gavage of ethanol based on Lieber-DeCarli model and Gao-Binge model.C57BL/6 mice were administered with control liquid diet for adaptation for first 5 d,and then divided into pair-fed group and ethanol-fed group (10 mice each group).Ethanol-fed mice were fed with the liquid diet in which ethanol accounts for 30％ of total energy,while the pair-fed mice were fed with the control diet for 10 d.At the 16th day,ethanol-fed mice and pair-fed mice were respectively gavaged a single dose of 31.5％ ethanol or isocaloric maltose dextrin,and euthanized 9 h later.Sera and livers were collected.The general physiological condition,hepatic tissue pathological changes and serum indexes between Lieber-DeCarli models and ALDNM models were compared.The liver lipids of ALDNM mice were determined by Oil red O (ORO) staining and hepatic triacylglyceride (TAG) test.Meanwhile,the mRNA levels of interleukin-6 (IL-6),tumor necrosis factor α (TNF-α),fatty acid synthase (Fas),long chain fatty acid elongase 6 (Elovl6) and stearyl-CoA desaturase (Scdl) were detected by real-time PCR in ALDNM models.Western blotting was used to detect the changes of phosphorylated signal transduction and transcriptional activator (p-STAT3) in the livers.Results·Lieber-DeCarli model mice were generally in poor condition,and there was no significant change in serum glutamic-pyruvic transaminase (GPT) and glutamic-oxaloacetic transaminase (GOT) compared to pair-fed group.However,in ALDNM models,H-E staining showed that the hepatocytes of ethanol-fed mice were extremely swollen with round volume,increased cytoplasm and filled with large amounts of fat vacuoles.ORO staining analyses showed obvious microsteatosis in the liver cells from all ethanol-fed mice.The hepatosomatic index,liver TAG content,serum GPT and GOT of ALDNM models were significantly higher than those in the pair-fed group,while the serum HDL significantly decreased compared to the pair-fed group.Moreover,the expression levels of both lipid synthesis pathways and inflammatory signaling pathways related genes in livers significantly increased in the ethanol-fed mice of ALDNM model.Conclusion·ALDNM model was successfully constructed.This model is cost-and time-efficient.Moreover,ALDNM model mimics the drinking pattern and pathogenesis of ALD patients with the advantages of stable food intake,good repeatability,and obvious liver damage.

Objective To investigate the clinical,biochemical and genetic features of hereditary hypomagnesaemia with secondary hypocalcaemia.Methods Two boys came from different Chinese families.They were hospitalized at the Peking University First Hospital between 2014 and 2016 at the age of 9 years and 1 year and 2 months because of epilepsy and psychomotor retardation.Clinical investigation,laboratory examination,and medical imaging were performed for the etiological study.Whole-genome sequencing was used for the genetic analysis of the patients.Mutations of TRPM6 gene were confirmed by means of Sanger sequencing.Results Patient 1 presented with recurrent seizures and psychomotor retardation from the age of 3 months.Vision loss and psychomotor regression were noticed from the age of 9 years,accompanied with hypertension.Serum magnesium and total calcium were significandy decreased to 0.13-0.15 mmol/L and 1.43-2.00 mmol/L,respectively in patient 1.Serum potassium was reduced to 1.85-3.25 mmol/L.Blood parathyroid hormone was also decreased.On the TRPM6 gene of patient 1,2 novel non-sense mutations,c.2771G ＞ A (p.Trp924Ter) and c.115C ＞ T (p.Gln39Ter) were identified.Patient 2 presented with seizures and psychomotor retardation at the age of 2 weeks.Both of his serum magnesium (0.17-0.35 mmol/L) and serum total calcium (1.32-1.34 mmol/L) were significantly decreased.Blood parathyroid hormone was decreased.Two novel mutations (c.1239G ＞ A,p.W413X and c.146G ＞ A,p.C49Y) were found in the TRPM6 gene of patient 2.Severe hypomagnesaemia,hypocalcaemia and TRPM6 gene mutations confirmed the diagnosis of hereditary hypomagnesaemia with secondary hypocalcaemia in the 2 patients.After the large-dose supplement of magnesium sulfate,progressive clinical improvements were observed in the 2 patients.However,because of the severe brain damage,patient 1 still had psychomotor retardation.Patient 2 completely recovered.Conclusions Hereditary hypomagnesaemia with secondary hypocalcaemia is a severe inherited metabolic disease.Early diagnosis and large-dose magnesium supplement are the key to the good prognosis of the patients.In this study,2 Chinese children with the clinical onset of epilepsy and psychomotor retardation are reported.The diagnosis is made by way of blood biochemical assay and gene analysis.Four novel mutations on their TRPM6 gene are identified.

Objective To investigate the clinical and aspartoacylase (ASPA) gene mutation characteristics of Canavan disease.Methods The clinical data of a child with Canavan disease diagnosed by gene detection who visited Children's Hospital Affiliated to Zhengzhou University in June 2018 were reviewed and analyzed.Results A one year and five months old girl presented with psychomotor retrogression,hypermyotonia,and tendon hyperreflexia.The urinary N-acetylaspartic acid levels were significantly higher (66.832 7,more than 60 times that of normal individuals).Magnetic resonance imaging of the brain showed a multiple and symmetrical hyperintense signal changes in the cerebral white matter.Two heterozygous mutations c.79_80del (p.Gly27Arg) and c.554G＞T (p.Gly185Val) were screened by targeted next generation sequencing.The results of Sanger sequencing showed the two mutations were compound heterozygous mutation derived from her father and mother,and the mutation c.554G＞T has never been reported.Conclusions The next generation sequencing can accurately detect ASPA gene mutation as the first choice for the diagnosis of Canavan disease.The mutation c.554G＞T enriches the gene mutation spectrum of Canavan disease.

Objective:To determine the effect of miR-122-5p on microglia polarization, apoptosis and inflammation after traumatic brain injury (TBI).Methods:A mouse model and an in vitro TBI model were established. Astrocytes were stimulated to synthesize and release exosomes by brain extracts. microRNA microarray analysis was used to analyze the significantly altered microRNAs. Quantitative reverse transcription-polymerase chain reaction (qRT-PCR) was applied to detect the expression of miR-122-5p in the in vivo and in vitro TBI model. TUNEL, immunofluorescence, and Western blot were performed to detect the effects of miR-122-5p inhibitors on microglia apoptosis, microglia M1/M2 phenotype transformation and the activation of NLRP3 inflammasome pathway and the phosphorylation of NF-κB after TBI.Results:The results of microRNA microarray analysis showed that 83 miRNAs were downregulated significantly (altered more than 2 folds, P < 0.05), among which miR-122-5p was significantly down-regulated ( P < 0.01). Expression of miR-122-5p was significantly decreased in the in vivo and in vitro TBI model [(1.00±0.00) vs. (0.41±0.15), P < 0.001; (1.00±0.00) vs. (0.34±0.07), P < 0.001]. TUNEL and immunofluorescence showed that miR-122-5p inhibitor significantly alleviated microglia apoptosis[(8.03±1.30) vs. (3.17±0.34), P < 0.001] and promoted microglia M1→M2 phenotype transformation ,M1 phenotype polarization was reduced [(56.96±13.70) vs. (34.70±3.47), P =0.002] and M2 phenotype polarization was increased [(30.46±3.67) vs. (40.74±2.49), P =0.005]. Western blot showed that NLRP3 inflammasome activation was inhibited and NF-κB phosphorylation was decreased when miR-122-5p was downregulated[(0.77±0.10) vs. (0.51±0.11), P =0.02; (0.73±0.08) vs. (0.50±0.07), P =0.003]. Conclusions:miR-122-5p is downregulated in microglia and exosomes secreted by astrocytes after TBI. miR-122-5p inhibitor can attenuate the microglia inflammatory response after TBI by inhibiting the activation of NLRP3 inflammasome pathway and the phosphorylation of NF-κB, promoting the microglia M1→M2 phenotypic transformation and reducing microglia apoptosis, thereby reducing the microglia inflammatory injury after TBI.

Long non-coding RNA (lncRNA) is a class of highly conserved transcript with a length of more than 200 nucleotides, which is of great significance for the occurrence, development, diagnosis and treatment of malignant tumors. The abnormal expression of linc01410 in malignant tumors can affect the occurrence and development of malignant tumors by regulating the biological processes such as proliferation, migration and epithelial-mesenchymal transformation of malignant tumor cells, acting on related signaling pathways such as nuclear factor-κB and Notch or through exosome pathways.

Objective:To evaluate the quality of life of patients with chronic Keshan disease, and to explore related influencing factors, in order to provide a theoretical basis for improving the quality of life of patients with chronic Keshan disease.Methods:According to the standard of "Diagnosis of Keshan Disease" (WS/T 210-2011), 110 patients with chronic Keshan disease treated in the Jingchuan People's Hospital, Pingliang City, Gansu Province were selected as the research subjects, and demographic and disease data of the patients were collected by questionnaire survey; the quality of life of patients was assessed by the Minnesota living with heart failure questionnaire (MLHFQ); and correlation analysis was used to analyze and explore the influencing factors of patients' MLHFQ score.Results:Among the 110 patients with chronic Keshan disease, 66 were males and 44 were females, aged (60.93 ± 8.22) years; the education level was mainly junior high school or below, accounting for 92.73% (102/110); average annual family income was 20 700 yuan; the cardio-thoracic ratio of the patient was 0.64 ± 0.09; the ejection fraction (EF) was (36.71 ± 7.55)%; the labor ability classification was mainly based on simple activities, accounting for 60.91% (67/110); and the cardiac function classification was mainly Grade Ⅲ, accounting for 67.27% (74/110). The total MLHFQ scores of chronic Keshan patients were (69.17 ± 16.14) points, and the scores of physical, emotional and other fields were (26.32 ± 6.70), (15.86 ± 4.96) and (26.94 ± 6.10) points, respectively. The total MLHFQ scores had statistically significant differences among patients with different education level, cardio-thoracic ratio, EF, labor ability classification, cardiac function classification and annual family income ( F=7.121, 6.236, 4.515, 3.427, 5.418, Z=2.346 , P < 0.05). The results of correlation analysis showed that educational level and labor ability classification were negatively correlated with scores in physical field and other fields ( r=- 0.302, - 0.206, - 0.343, - 0.285, P < 0.01), and annual family income was negatively correlated with scores in emotional field ( r=- 0.263, P < 0.01). The cardiac function classification was positively correlated with scores in physical and other fields ( r=0.233, 0.210, P < 0.05). Conclusions:The quality of life of patients with chronic Keshan disease is poor. The quality of life of patients is affected by their educational level, annual family income, labor ability classification, cardiac function classification, etc.

Transcatheter aortic valve replacement (TAVR) for severe aortic stenosis is growing rapidly. The use of new heart valves prosthesis has improved surgical safety and efficacy. This report described a 72-year-old male patient with severe aortic stenosis combined with severe aortic regurgitation, who was evaluated at moderate-high risk of surgery and received a transapical TAVR using the Ken-Valve heart valve. The transcatheter operation time was 8 min, and the blood loss was 50 mL. The tracheal intubation was removed immediately after the surgery. Transesophageal echocardiography on the 4th postoperative day showed that the aortic valve leaflets worked well, and there was no valve orifice and paravalvular leakage. The patient was discharged on the 5th day after the surgery without complications. Transapical TAVR using Ken-Valve was an easy surgical procedure for aortic valve disease, and had short operation time.

Transcatheter aortic valve replacement (TAVR) has become the preferred treatment for severe aortic stenosis. The localization and anchor of many transcatheter heart valves available in the clinic today are dependent on the calcific aortic valve leaflet of patients. We reported here a successful case of transapical aortic valve implantation with Ken-Valve heart valve in an 82-year-old male patient with pure severe aortic regurgitation without native valve calcium. Postoperative follow-up (3 months after the surgery) showed that the cardiac function significantly improved. The echocardiography indicated that the Ken-Valve prosthesis worked well without perivalvular regurgitation. The short-term clinical effect was satisfactory. The Ken-Valve with three position anchors is proved to be suitable for the treatment of pure aortic regurgitation.