Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2 / 医学前沿

Congenital heart disease (CHD) is the most common birth defect worldwide. Long non-coding RNAs (lncRNAs) have been implicated in many diseases. However, their involvement in CHD is not well understood. This study aimed to investigate the role of dysregulated lncRNAs in CHD. We used Gene Expression Omnibus data mining, bioinformatics analysis, and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD. Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2 (HAND2). Moreover, lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation. Overall, these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.

The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer / 한국유방암학회지

In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.

Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations.</p><p><b>RESULTS</b>Family 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract. The inheritance mode of the three pedigrees consisted with autosomal dominant inheritance. In family 1, a nonsense mutation of CRYβB2 gene c.463C>T in exon 6 result in a p.Q155X amino acid change. In family 2, a missense mutation of of CRYGD gene c.43C>T in exon 2 result in a p.R14C amino acid change. In family 3, a missense mutation of CRYGD gene c.70C>A in exon 2 result in a p.P23T amino aid change. No above-mentioned mutations were found in normal individuals.</p><p><b>CONCLUSION</b>The nonsense mutation c.463C>T (p.Q155X) of CRYβB2 gene, the heterozygous mutations c.43C>T(p.R14C) of CRYGD gene and c.70C>A( p.P23T) of CRYGD gene was the disease-causing gene mutation in family 1, 2 and 3 respectively, our results provid genetic counseling and prenatal diagnosis for these three families.</p>

Determination of Molecular Weight and Content of Bletilla striata Polysaccharide by HPSEC-ELSD / 中国药房

OBJECTIVE:To set up a method for determination of molecular weight and content of polysaccharide in Bletilla striata. METHODS:HPSEC-ELSD method was adopted. The determination was performed on TSK-GEL G4000 PWXL column with mobile phase consisted of pure water at the flow rate of 0.6 mL/min.The column temperature was 30 ℃,and sample size was 20 μL. Evaporative light scattering detector was used.The molecular weight and content of polysaccharide in 3 batches of B. striata were established. RESULTS:The linear range of weight average molecular weight of B. striata polysaccharide were 24.17-178.00 kD(R2=0.985 5). The linear range of BT07 content determination were 0.508 0-5.080 mg/mL(R2=0.998 4). The limits of detection and quantitation were 0.116 5 and 0.274 0 mg/mL. RSDs of precision,stability and reproducibility tests were all lower than 2%(n=6 or n=7).Average recoveries rate were 99.16%-100.20%(RSD=0.39%-0.64%,n=9).Average retention time of 3 batches of samples was 14.28 min(RSD=4.35%,n=3),and weight average molecular weight was 23.54 kD(RSD=3.78%, n=3). Polydispersity coefficient D,MW/Mn)ranged 1.463-1.578. Average content of sample was 93.4%(RSD=4.22%,n=3). CONCLUSIONS:HPSEC-ELSD method is simple,rapid,accurate and reliable,which can be used for simultaneous determination of B.striata polysaccharide.

Determination of Solubility and Apparent Oil and Water Partition Coefficient of Saponin H1 / 中国药房

OBJECTIVE:To determine the solubility and apparent oil and water partition coefficient (lg P) of saponin H1,and provide reference for dosage form design and druggability research of saponin. METHODS:HPLC-ELSD was conducted to deter-mine the equilibrium solubility of saponin H1 in different organic solvents and pH buffer solutions;shaking flask was applied to de-termine lg P value of saponin H1. RESULTS:The equilibrium solubility of saponin H1 in water,methanol and ethanol at 25 ℃ was 0.09175 g/L,96.51 g/L and 46.89 g/L,respectively. The solubility increased apparently at high pH within pH range at 7.6-10.0;the lg P value was between 0.695-0.773 in buffers within pH range at 6.0-8.0. CONCLUSIONS:Saponin H1 and the oleanolic acid type saponins belong to low solubility, low transmission components, so it is not suitable for use as a conventional oral formulation is developed.

Relationship between parental personality,mood disorders and family functions of the children with autism spectrum disorder / 中华实用儿科临床杂志

Objective The number of children diagnosed with autism spectrum disorder (ASD)has increased dramatically in the past years.Parents of children with ASD usually experience a variety of chronic and acute stressors that may decrease marital satisfaction and family functioning.The aim was to explore the characteristics of parental per-sonality,mood disorders and family functions of the Children with ASD and to explore the relevance factors in order to draw out methods to improve parental family functions.Methods A cross -sectional survey was conducted and 593 outpatients with ASD diagnosed in Shanghai Mental Health Center,Shanghai Jiao Tong University School of Medicine form January 201 0 to January 201 4 were straight into the group,their parents were tested by Family Assessment Device (FAD),Zung Self -Rating Depression Scale(SDS),Zung Self -Rating Anxiety Scale(SAS)and Eysenck Personality Questionnaire(EPQ).SPSS 1 7.0 software was adopted to establish the database and statistical analysis.Results Ac-cording to FAD,parents of children with ASD had lower scores in problem solving[(2.1 0 ±0.37)scores]and roles [(2.09 ±0.27)scores](t =-6.669,P =0.000;t =-1 8.707,P =0.000)than the standard scores,while other di-mensions score were significantly higher than the standard scores in communicdtion[(2.25 ±0.35)scores],emotional reaction[(2.38 ±0.40)scores],emotional involvement[(2.36 ±0.37)scores],behavioral control[(2.31 ±0.27) scores]and general function[(2.1 2 ±0.38)scores],there were significant differences(t =3.1 35,1 1 .1 1 5,1 6.997, 37.1 1 6,8.064;P =0.002,0.000,0.000,0.000,0.000).For EPQ of parents,mother had obviously higher scores than father in psychoticism scale[(53.68 ±1 .36)scores vs (52.65 ±1 .1 7)scores,t =-1 3.841 ,P =0.000],and signifi-cantly lower scores in Lie scale[(52.27 ±0.79)scores vs (52.1 7 ±0.75)scores,t =2.449,P =0.01 4].Compared to fathers,mothers were coded as higher depression and anxiety scores(t =-6.276,-6.440,all P =0.000)and higher prevalence rate(χ2 =1 5.893,27.592,all P =0.000),which were statistically significant.According to the asso-ciation study of FAD and the others(especially in mood of parents),it was found that several dimensions showed obvious correlation.Conclusions Parents of children with ASD have family function damaged badly,except for prob-lem solving and roles.The parents showed different personality traits and mood disorders,particularly mothers′mood disorder problem was prominent.Parental family functioning were closely related to their personality traits and emotional disorders in various dimensionalities,which was worthy of attention.

Epidemiological investigation on autism spectrum disorders among preschool children in Shanghai / 中华流行病学杂志

Objective To investigate the prevalence of autism spectrum disorders (ASD) of children aged 4-6 years in public kindergartens in Shanghai.Methods Songjiang district and Xuhui district were selected randomly as the representative sample.By means of "Clancy Autism Behavior Scale","Social Communication Questionnaire" and "high-functioning Autism Spectrum Screening Questionnaire",all of the 33 public kindergartens in chosen area,which contained 10 385 children aged 4-6 years,were surveyed.Those who were screened as suspected cases would be further diagnosed by "Autism Diagnostic Interview-Revised" and "Diagnostic and Statistical Manual of Mental Disorders,Fifth Edition".Results Among 9 665 valid questionnaires,9 children were diagnosed with ASD.The ratio of male to female was 8:1,the point prevalence rate was 0.93‰.The results of ADI-R corresponded with that of DSM-5.There were two children who never had medical records.For others,"language" problem was the most likely reason for their parents to seek medical help,while "deficits in social communication" was the main symptom of patients.Conclusion The prevalence of ASD was lower than those recorded in literature,home and abroad which might be related to some patients not going to public kindergartens.

Pathogenic Bacteria Distribution and Antimicrobial Susceptibility of Children with Acute Otitis Media / 听力学及言语疾病杂志

Objective To analyze pathogenic bacteria distribution and antimicrobial susceptibility in children with acute otitis media(AOM ) .Methods Otorrhea samples from 146 episodes of AOM were cultured .The antimi‐crobial susceptibility of the main pathogenic bacteria was determined .The results were analyzed by SPSS19 .0 .Re‐sults 1) The strains of bacteria were isolated from 109 children with the positive rate of 74 .66% .Streptococcus pneumoniae (SP ) was the major bacteria(64 episodes ,58 .72% ) ,followed by staphlococcus aureus(SA) (19 epi‐sodes ,17 .43% ) .2) Sp was all sensitive to vancomycin ,levofloxacin ,moderate to penicillin ,amoxicillin ,cefo‐taxime ,and highly resistent to erythromycin and clindamycin .Staphlococcus aureus were all sensitive to vancomy‐cin ,tetracycline ,and Amy card ,and moderate to amoxicillin clavulanic acid potassium ,cefoxitin ,and oxacillin ,all resistent to penicillin and ampicillin .3) The strains of SP in age≤1year ,>1 -3years ,and >3 years respectively were 31(50 .82% ) ,25(56 .82% ) ,8 (19 .51% ) .There were significant differences between them(χ2 =14 .073 ,P=0 .001) .4)The strains of SP in 2012 ,2013 ,2014 respectively were 16(30 .19% ) ,22(48 .89% ) ,26(54 .17% ) ,There were significant differences between them(χ2 =6 .557 ,P=0 .038) .The antimicrobial susceptibility of SP had no sig‐nificant differences among 2012 ,2013 ,2014 ,but a yearly resistance decreasing trend was seen .Conclusion SP was the main bacterial contributor for AOM in Wuhan children .SP detection rate increases every year ,mainly in chil‐dren less than 3 years old .T he antimicrobial susceptibility is stable .

Temperament of children with vocal fold nodules / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To examine the temperament of children with vocal fold nodules.@*METHOD@#To compare the temperament dimension and temperamental types of 42 children with vocal fold nodules with 46 vocally normal children, using Chinese children's Temperament Problem Screening system (CCTPSs).@*RESULT@#The children with vocal fold nodules differed significantly from the comparison group in their temperament dimension's adaptability, intensity of reaction, mood value, persistency and temperamental types.@*CONCLUSION@#There are more difficult and slow-to-warm-up children in patients with vocal fold nodules than vocally normal children.

Temperament of children with vocal fold nodules / 临床耳鼻咽喉头颈外科杂志

Objective:To examine the temperatment of children with vocal fold nodules.Method:To compare the temperatment dimension and temperatmental types of 42 children with vocal fold nodules with 46 vocally normal children, using Chinese children's Temperament Problem Screening system(CCTPSs).Result:The children with vocal fold nodules differed significantly from the comparasion group in their temperament dimension's adaptability,intensity of reaction, mood value, persistency and temperatmental types.Conclusion:There are more difficult and slow-to-warm-up children in patients with vocal fold nodules than vocally normal children.

Simultaneous Determination of the Contents of Costunolide and Dehydrocostuslactone in Xuedan Weichang Pill by RP-HPLC / 中国药房

OBJECTIVE:To establish an RP-HPLC method for simultaneous determination of the contents of costunolide and dehydrocostuslactone in Xuedan weichang pill. METHODS:The determination was performed on Shim-pack VP-ODS column(150 mm?4.6 mm,5 ?m) with methanol-water(60∶40) as mobile phase and the detection wavelength was set at 225 nm.RESULTS:The linear ranges of costunolide and dehydrocostuslactone were 13.6～272.0 ?g?mL-1 and 11.25～225.0 ?g?mL-1,respectively,and their average recoveries were 99.47% and 99.62%,respectively with RSD of 1.75%(n=6) and 1.14%(n=6),respectively. CONCLUSION:The method established is simple,feasible,accurate and reliable,and it is applicable for the quality control of Xuedan weichang pill.

Exogenous or endogenous nitric oxide pretreatment induced delayed protection of cardiomyocytes / 中华麻醉学杂志

Objective Ischemia preconditioning provides early and delayed protection against ischetnic injury. It has been shown that nitric oxide(NO) exerts protective effects on cardiovascular system. The purpose of this study was to determine if exogenous or endogenous NO pretreatment could provide delayed protection of neonatal rat cardiomyocytes. Methods Neonatal SD rats (1-3 days) were used in this study. Cardiomyocytes obtained from beating heart were cultured and incubated for 72 h. The study was composed of ten groups: (1) no medicine was added to the cell medium and the cardiomyocytes were subjected to no hypoxia/reoxygenation (control group);(2) NO donor, S-nitroso-N-acetylpenicillamine (SNAP) 500 ?mol.L-1 was added to cell medium 24 h before H/R( hypoxia 6 h followed by 3 h reoxygenatiori) (SNAP group); (3 )MO precusor, L-arginine 1 mmoL L-1 was added to cell medium 24 h before H/R (L-Arg group); (4) nitric oxide synthase(INOS) antagonist, L-NAME 1 mmol.L-1 and L-arginine 1 mmol.L-1 were added to cell medium 24 h before H/R (L-NAME + L-Arg group); (5) hypoxia preconditioning HP group) in which cultured cells were subjected to 60 min hypoxia followed by 30 min reoxygenation 24 h before H/R; (6) L-NAME 1 mmol.L was added to cell medium during hypoxia preconditioning 24 h before H/R ( L-NAME + HP group) ; (7) cGMP antagonist methylerie blue(MB) 50 ?mol ? L-1 was added to cell medium and one hour later SNAP 500 ?mol?L-1 was added , after being incubated for 24 h the cells were subjected to 6 h hypoxia and 3 h reoxygenation ( MB + SNAP group) ; (8) MB 50 ?mol ? L-1 and L-arginine 1 mmol.L-1 were added to cell medium at 1 h interval 24 h before H/R (MB + L-Arg group); (9) MB 50 ?mol ? L -1 was added to cell medium during hypoxia preconditioning 24 h before H/R (MB + HP group) ; (10) cardiorayocytes underwent 6 h hypoxia and 3 h reoxygenation without any pretreatment (H/R group) . After H/R cardiomyocytes was examined for lactate dehydrogenase ( LDH) activity and cell viability.Results SNAP pretreatment protected cardiomyocytes from H/R injury as shown by reduced LDH activity and improvement in cell viability ( P