OBJECTIVE: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter. RESULTS: The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance. CONCLUSION Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Autism Spectrum Disorder/genetics* ; Genomics ; Heterozygote ; Humans ; Mosaicism ; Whole Exome Sequencing

Temporomandibular disorders (TMD) is one of the most common diseases in the orofacial region. The occurrence, development and outcome of TMD are affected by many factors. Among various risk factors, the psychological factors, especially anxiety, depression and somatic symptoms, are getting more and more attention in the etiology, diagnosis and treatment of TMD. Psychological factors are associated with the occurrence of TMD, and the accurate diagnostic criteria is conducive to the assessment of the patient′s psychological state. If necessary, an appropriate psychological treatment according to a patient′s psychological status can effectively improve the effect of clinical treatment. This article, based on domestic and international literatures, reviews the research progress of the correlation between the psychological factors and the etiology, diagnosis and treatment of TMD, in order to provide new ideas for clinicians to diagnose and treat TMD.

Objective To explore the clinical efficacy,adverse reactions and serum levels of IL -10 and TNF-αin children with peptic ulcer undergoing sequential therapy.Methods 68 children with peptic ulcer were selected and randomly divided into two groups,34 cases in each group.The control group received quadruple therapy, namely omeprazole,amoxicillin,clarithromycin and bismuch treatment for seven days.The treatment group underwent sequential therapy:the first 5 d of oral omeprazole,amoxicillin treatment,and the next 5 d omeprazole,amoxicillin and inidazole treatment.The clinical efficacy,adverse reactions,IL-10 and TNF-αlevels of the two groups were com-pared.Results The total effective rates after treatment of the control group and treatment group were 88.24% and 91.18% respectively,there was no statistically significant difference between the two groups(χ2 =1.21,P>0.05). After treatment,the levels of IL-10 and TNF-αin the control group were (24.93 ±6.29)pg/mL and (37.93 ± 8.28)pg/mL,which were significantly decreased (t=5.52,P<0.05,t=8.51,P<0.01).And the levels of IL-10 and TNF-αin the treatment group were (21.36 ±6.31)pg/mL and (29.67 ±6.38)pg/mL,which were significantly decreased(t=11.15,12.29,all P<0.01).The levels of IL-10 and TNF -αof the treatment group were much significant than those of the control group after the sequential therapy (t=3.32,P<0.05,t=8.71,P<0.01). Conclusion Sequential therapy for the treatment of children with peptic ulcer has better effect than the quadruple therapy,and can reduce serum IL-10 and TNF-αlevels,it is worthy of promoting.

Objective To investigate the change of blood lactate level in children with severe sepsis,and its relationship with clinical prognosis.Methods 90 children with severe sepsis who treated in our hospital from February 201 3 to May 201 4 were selected as the study subjects.According to the prognosis of children,they were divided into survival group and death group,45 cases in each group.The blood lactate levels at different time points, blood lactate clearance rates between the two groups at different time points as well as fibrin,oxygenation index and D -dimer levels were compared after admission.Results After treatment,the fibrin,oxygenation index and D -dimer levels in the two groups were improved.The fibrin and D -dimer levels in the survival group[(2.71 ±0.31 )ng/mL, (0.89 ±0.1 0)mg/L)]were lower than those in the death group[(2.89 ±0.21 )ng/mL,(1 .26 ±0.1 8)mg/L)],the differences were significant(t =3.224,P =0.001 ;t =1 2.053,P =0.000).The oxygenation index of the survival group[(1 96.23 ±1 4.69)mmHg)]was higher than that of the death group [(1 80.23 ±21 .03 )mmHg)],the difference was significant(t =4.1 84,P =0.000).The EGOT compliance rate,APACHE Ⅱscore and MODS incidence rate of survival group were significantly lower than those of the death group,the differences were significant(t =7.200,P =0.007;t =9.1 49,P =0.000;t =29.298,P =0.000).The blood lactate levels at each time points in the survival group were significantly lower than the death group,the differences were statistically significant(t =50.543, P =0.000;t =33.932,P =0.000;t =1 7.91 5,P =0.000;t =28.703,P =0.000).The 6 h,24 h blood lactate clearance rates≥1 0% of the survival group (73.33%,80.00%)were significantly higher than those of the death group(37.78%,44.44%),the differences were significant(χ2 =1 1 .520,P =0.000;χ2 =1 2.1 00,P =0.000). Conclusion Lactate level in children with sepsis is an important indicator of prognosis in children with severe sepsis,with guidance for the treatment of children with sepsis.

Staphylococcus aureus, or methicillin-resistant S. aureus (MRSA), is a significant pathogen in both nosocomial and community infections. Community-associated MRSA (CA-MRSA) strains tend to be multi-drug resistant and to invade hospital settings. This study aimed to assess the antimicrobial resistance and molecular characteristicsof nasal S. aureus among newlyadmitted inpatients.In the present study, 66 S. aureus isolates, including 10 healthcare-associated MRSA (HA-MRSA), 8 CA-MRSA, and 48 methicillin-sensitive S. aureus (MSSA) strains, were found in the nasal cavities of 62 patients by screening 292 newlyadmitted patients. Antimicrobial resistance and molecular characteristics of these isolates, including spa-type, sequence type (ST) and SCCmec type, were investigated. All isolates were sensitive to linezolid, teicoplanin, and quinupristin/dalfopristin, but high levels of resistance to penicillin and erythromycin were detected. According to D-test and erm gene detection results, the cMLSB and iMLSB phenotypes were detected in 24 and 16 isolates, respectively. All 10 HA-MRSA strains displayed the cMLSB phenotypemediated by ermA or ermA/ermC, while the cMLSB CA-MRSA and MSSA strains carried the ermB gene. Molecular characterization revealedall 10 HA-MRSA strains were derived from the ST239-SCCmec III clone, and four out of eight CA-MRSA strains were t437-ST59-SCCmec V. The results suggest that patients play an indispensable role in transmitting epidemic CA-MRSA and HA-MRSA strains.
Anti-Bacterial Agents/*pharmacology ; Bacterial Proteins/genetics ; Drug Resistance, Multiple, Bacterial/genetics ; Humans ; Inpatients ; Methicillin-Resistant Staphylococcus aureus/*drug effects/genetics/isolation & purification ; Methyltransferases/genetics ; Microbial Sensitivity Tests ; Nasal Cavity/*microbiology ; Staphylococcal Infections/diagnosis/microbiology ; Staphylococcus aureus/*drug effects/genetics/isolation & purification

Objective To compare the clinical effect of intraosseous versus traditional infusion in critical pediatric patients under resuscitation.Methods 56 critical pediatric patients under resuscitation,who were difficult to establish a venous access,were divided into two groups:intraosseous infusion group (IOI group)and traditional group.The clinical characteristics,lab tests,clinical efficacy and complications of all patients were recorded in detail. Results The general characteristics of two groups were comparable.The mean operation time to establish an emergency infusion access in the IOI group was (1.01 ±0.53)min,which was significantly shorter than (8.97 ±2.36)min of the traditional group(t =4.856,P <0.01).The IOI group had a greater efficacy over the traditional group (50.0% vs 36.7%),in the IOI group,the patients showed obvious positive effect and less patients had no efficacy(χ2 =18.476, P <0.05 ).In addition,lower complication rate and mortality were observed in the IOI group.Conclusion For critical pediatric patients under resuscitation whose intravascular access cannot be achieved through peripheral venous,intraosseous infusion is prior to traditional infusion.

Objective To analyze the therapeutic effect of qiweiqingyan aerosol combined with ribavirin in the treatment of herpetic angina of children hand-foot-mouth disease,and to compare the clinical effects with sim-ple use of ribavirin.Methods 160 children with hand foot and mouth disease were divided into two groups by random number table.They were the observation group (80 cases)and control group (80 cases),respectively.Two groups were both given ribavirin aerosol in the treatment,the observation group were added with qiweiqingyan aerosol agent to carry out treatment,then the clinical curative effects of the observation group and control group were copared.Results In the observation group,the total effective rate was 96.25%,and the total effective rate of the control group was 85.00%,the difference between the two groups had statistical significance (χ2 =5.959,P<0.05).Marked effective rate of the observation group was 86.25%.In the control group,the significant efficiency was 37.50%.The difference between the two groups had statistical significance (χ2 =40.300,P<0.05 ).Defervescence time and bleb disappear time were shorter in the observation group compared to the control group,the difference between the two groups was statistically significant (t=47.880,8.063,5.100,all P<0.05).The adverse reactions in the observation group were significantly lower than those in the control group (χ2 =9.608,P<0.05 ),after statistical analysis.Conclusion Using qiweiqingyan aerosol combined with ribavirin in the treatment of children hand foot and mouth herpangina,can significantly shorten the time of treatment,reduce adverse reactions and improve the cure rate.

Objective To investigate the expressions of LYVE-1 and PROX-1 in human breast carcinoma and the clinical significance of lymphatic vessel density.Methods Immunohistochemistry (SP method)was used to detect the expressions of LYVE-1 and PROX-1 in 80 specimens of breast invasive ductal carcinoma and 35 specimens of breast hyperplasia.Results The density of lymphatic vessels positive for LYVE-1 or PROX-1 was significantly higher in breast carcinoma than in breast hyper-plasia (P<0.01).There was a significant correlation between lymphatic vessel density and lymph node metastasis (P<0.01). A negative correlation was noted between the PROX-1 expression in carcinoma cells and tumor grade (P<0.01)or TNM stage (P < 0.01 ).Conclusion Lymphangiogenesis is increased in breast carcinoma,which is associated with lymph node metastasis.PROX-1 may be involved in tumorigenesis,progression and lymphatic metastasis in breast cancer.

The aim of the present study was to examine the effects of suppression of EphB4 and/or mTOR on the biological behaviors of ovarian cancer cells, and the potential regulatory pathways. Antisense EphB4 vectors and shRNA vectors targeting mammalian target of rapamycin (mTOR) were constructed and transfected into A2780 and SKOV3 cells (two ovarian cancer cell lines). The effects of the antisense EphB4 vectors and the shRNA vectors on the proliferation, apoptosis and invasion of ovarian cancer cells were measured, and the expression of EphB4, mTOR and Akt detected. The results showed that transfection with mTOR shRNA could inhibit growth, induce apoptosis, and reduce invasive ability of ovarian cancer cells, which was accompanied by downregulation of EphB4, mTOR and Akt. The inhibitory effects on cell growth caused by mTOR shRNA alone were weaker than those by antisense pEGFP-C1-EphB4. In the antisense pEGFP-C1-EphB4-transfected cells, it was found that EphB4 knockdown could decrease the mTOR expression and slightly reduce the Akt phosphorylation. Significant suppressive effects on cell growth were observed in cells co-transfected with antisense pEGFP-C1-EphB4 and mTOR shRNA. In co-transfection group, the expression levels of EphB4, mTOR and Akt were distinctly lower than those in other groups. It was concluded that suppression of EphB4 may inhibit the growth of ovarian cancer cells by downregulation of the PI3K/Akt/mTOR pathway, and reverse Akt phosphorylation induced by mTOR shRNA. Inhibition of EphB4 and mTOR combined may cooperatively suppress the biological behaviors of ovarian cancer cells.
Apoptosis ; genetics ; Cell Line, Tumor ; Cell Proliferation ; Down-Regulation ; genetics ; Female ; Humans ; Ovarian Neoplasms ; pathology ; physiopathology ; Proto-Oncogene Proteins c-akt ; genetics ; metabolism ; RNA, Small Interfering ; genetics ; Receptor, EphB4 ; genetics ; metabolism ; Suppression, Genetic ; genetics

The aim of the present study was to examine the effects of suppression of EphB4 and/or mTOR on the biological behaviors of ovarian cancer cells, and the potential regulatory pathways. Antisense EphB4 vectors and shRNA vectors targeting mammalian target of rapamycin (mTOR) were constructed and transfected into A2780 and SKOV3 cells (two ovarian cancer cell lines). The effects of the antisense EphB4 vectors and the shRNA vectors on the proliferation, apoptosis and invasion of ovarian cancer cells were measured, and the expression of EphB4, mTOR and Akt detected. The results showed that transfection with mTOR shRNA could inhibit growth, induce apoptosis, and reduce invasive ability of ovarian cancer cells, which was accompanied by downregulation of EphB4, mTOR and Akt. The inhibitory effects on cell growth caused by mTOR shRNA alone were weaker than those by antisense pEGFP-C1-EphB4. In the antisense pEGFP-C1-EphB4-transfected cells, it was found that EphB4 knockdown could decrease the mTOR expression and slightly reduce the Akt phosphorylation. Significant suppressive effects on cell growth were observed in cells co-transfected with antisense pEGFP-C1-EphB4 and mTOR shRNA. In co-transfection group, the expression levels of EphB4, mTOR and Akt were distinctly lower than those in other groups. It was concluded that suppression of EphB4 may inhibit the growth of ovarian cancer cells by downregulation of the PI3K/Akt/mTOR pathway, and reverse Akt phosphorylation induced by mTOR shRNA. Inhibition of EphB4 and mTOR combined may cooperatively suppress the biological behaviors of ovarian cancer cells.