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<p><b>OBJECTIVE</b>To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).</p><p><b>METHODS</b>Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.</p><p><b>RESULTS</b>The neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.</p><p><b>CONCLUSION</b>The c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.</p>
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Objective To study the clinical effects of pulmonary recruitment maneuvers combined with pressure regulation volume control (PRVC) in the treatment of severe respiratory distress syndrome (RDS) in premature infants.Method From July 2015 to September 2016,preterm infants of grade Ⅲ-Ⅳ RDS who received PRVC treatment in neonatal department of Huai'an Maternal and Child Health Hospital were assigned into recruitment maneuver group and control group (without recruitment maneuver) using randon number table.The ventilator parameters were observed at 1,2,6,12,18 h and 24 h after ventilation.Recovery rate,duration of oxygen therapy and ventilation,duration of hospital stay,incidence of second dose of pulmonary surfactant and complications were compared between two groups.Result A total of 18 cases were included in recruitment maneuver group and 19 cases in control group.The recovery rate of recruitment maneuver group was higher than control group (16/18 vs.10/19).The duration of oxygen therapy [(6.6 ± 2.3) d vs.(11.8 ± 3.0) d],duration of ventilation [(4.1 ± 2.3) d vs.(6.4 ± 2.8) d],duration of hospital stay [(26.7 ± 7.0) d vs.(33.0 ± 8.4) d] in recruitment maneuver group were significantly shorter than control group (P ＜ 0.05).The proportion of bronchopulmonary dysplasia (1/18 vs.8/19),retinopathy of premature (1/18 vs.7/19),patent ductus arteriosus that require medication closure (1/18 vs.7/19)and incidence of second dose of pulmonary surfactant (2/18 vs.9/19) in recruitment maneuver group were significantly lower than control group (P ＜ 0.05).While the complication of air leak,necrotizing enteritis,Ⅲ-V grade intracranial hemorrhage showed no significant differences between the two groups (P ＞ 0.05).Conclusion Recruitment maneuvers combined with PRVC in treatment of severe RDS premature infants can improve recovery rate and oxygenation.It can also shorten the duration of oxygen therapy,ventilation and hospital stay.It can reduce the incidence of bronchopulmonary dysplasia and retinopathy of premature.It is worth spreading in clinical practice.reduce the incidence of bronchopuhmonary dysplasia and retinopathy.It is worthy of promotion.
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OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
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Female , Humans , Infant, Newborn , Abnormalities, Multiple , Genetics , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 18 , PhenotypeABSTRACT
Objective To study the treatment effects of newborn mice murine Cytomegalovirus (MCMV) hepatitis by using CpG Oligodeoxynucleotide 2395 (CpG ODN2395).Methods Specific pathogen-free BALB/c newborn mice were divided into 3 groups according to the broods randomly:control group,virus group and treatment group.In control group 9 g/L sodium chloride 20 × 10-6 L was intraperitoneally injected every other day.In virus group MCMV (TCID50 =108.31/L) 20 × 10-6 L was intraperitoneally injected once and 9 g/L sodium chloride solution 20 × 10-6 L was intraperitoneally injected every other day.In treatment group murine MCMV(TCID50 =10S31/L) 20 × 10-6 L was intraperitoneally injected once and from the first day CpG ODN2395 20 mg/kg was intraperitoneally injected every other day.Growths and development of mice were observed.Murine body weights were measured.Pathology of livers was observed by means of hematoxylin and eosin stain.The levels of serum ALT and IFN-α were measured by adopting enzyme linked immunosorbent assay.MCMV loads in liver were measured by way of polymerase chain reaction.The expression levels of IFN-α mRNA in liver were detected by using reverse transcription polymerase chain reaction.The expression levels of Toll-like receptor 9 (TLR9) and myeloid cell differentiation factor 88 (MyD88) in liver were detected by adopting Western blot.The results were analyzed by using SPSS 16.0 statistics software.Results 1.Compared with control group and treatment group,growth and development of virus group mice fell behind and on day 7,14 body weights were lowest(F =18.919,25.543,all P ＜ 0.05).Growth and development of treatment group mice were between control group and virus group.Body weights of treatment group mice were lower than those of control group,and there was statistical difference on day 7 (t =3.187,P ＜ 0.05).2.Compared with control group and treatment group,the levels of ALT in virus group was highest.ALT levels of treatment group were higher than those of control group and treatment group(F =11.407,11.791,154.656,all P ＜ 0.05).3.The pathologic change of liver tissue:the HAI of virus group reached the peak on day 3,then decreased gradually.The HAI of treatment group also reached the peak on day 3,but liver damage was obviously less than those of virus group.The liver damage also relieved gradually and the mean of HAI was obviously lower than that of virus group on day 7 and 14.4.MCMV DNA in liver was negative at control group.The magnitude of viral loading in livers of virus group was higher than that of treatment group.5.The levels of IFN-α in treatment group and virus group reached a peak on day 3 and declined gradually on day 7,14.The levels of IFN-α on treatment group were higher than that of virus group and control group.The levels of IFN-α virus group were higher than those of control group,but had no statistical difference.6.The mRNA expression of IFN-α in livers of treatment group and virus group began to increase on day 3 and reached a peak on day 7,and declined on day 14.The mRNA expression of IFN-α was higher than that of virus group and control group.The mRNA expression of virus group was higher than that of control group.7.The expressions of TLR9 and MyD88 in livers of treatment group were higher than that of virus group and control group.The expressions of TLR9 and MyD88 of virus group were higher than those of control group.Conclusions CpG ODN2395 can obviously improved liver function and histopathological lesions and reduce MCMV DNA load within liver tissues as well.CpG ODN2395 can improve the expression levels of TLR9 in liver and activate secretion interferon alpha by MyD88-dependent pathway,which were likely to play an important role in its treatment of murine CMV infection.
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A total of 60 infants with severe persistent pulmonary hypertension (PPHN) at our NICU from January 2006 to December 2012 were divided into research group[(n =32,high-frequency oscillatory ventilation(HFOV) plus sildenafil)]and control group (n =28,HFOV only).Mean pulmonary arterial pulmonary arterial (MPAP),blood gas analysis,oxygenation index (OI),PO2 to fraction of inspired oxygen ratio (PO2/FiO2) before and after treatment were compared between two groups.After 3-day treatment,MPAP (mm Hg)(32 ±6) vs.(43 ±9)mm Hg,PCO2(mm Hg)(36 ±9) vs.(43 ±9),OI(56 ±22) vs.(85 ±21) in research group were significantly lower than those in control group(P ＜ 0.05) ; in comparison with control group,PO2(mm Hg) (89 ±15) vs.(72 ±22),PO2/FiO2(mm Hg) (223 ± 18) vs.(196 ±24) in research group were significantly higher(P ＜ 0.05).The time of ventilation use (d) (5.4 ± 1.3) vs.(6.3 ± 1.6) in research group was shorter than that of control group(P ＜0.05) while research group showed a higher clinical efficiency rate(％) (81.2 vs.50.0) (P ＜0.05).A combination of HFOV and sildenafil for severe PPHN can significantly reduce MPAP,shorten the duration of ventilation use and improve cure rate.