Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com?mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec?tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7?2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge?netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.

Objective To investigate the value of copy number variation analysis based on next-generation sequencing (NGS-CNVA) in the genetic analysis of missed abortion chorionic villi. Methods From August 2012 to May 2014, chorionic villi from 74 cases of missed abortion at 6-13 gestational weeks in Haidian Maternal and Child Health Hospital were collected and analyzed by karyotype analysis and NGS-CNVA. The results of the two methods were compared. Results (1) Karyotype analysis was carried out for the villi from the 74 missed abortion patients. Thirty cases were euploid, 26 cases were aneuploid, while 18 cases had structural abnormalities. The resolution of the karyotyping was 320 bands and the average report time was 22 days. (2) All of the 74 samples obtained NGS-CNVA results and the report time was 7-10 days. (3) The NGS-CNVA results of 56 cases were consistent with karyotype. Among them, 28 cases (28/56, 50%) had no copy number variants (CNV), and 19 cases (19/56, 34%)had CNV between 1 Mb and 10 Mb. 9 cases (9/56,16%) had CNV≥10 Mb found by NGS-CNVA, but not found by karyotyping. (4) According to the results of NGS-CNVA, karyotype were reviewed. The reviewed results found 7 cases with CNV<10 Mb and 3 cases with CNV≥10 Mb in 30 cases which got normal karyotype results at the first analysis. (5) Among the 18 cases of structural abnormalities, 6 cases were Robertsonian translocation. Sequencing technology could confirm the specific area of chromosome deletion/duplication in 8 cases, but could not locate them. Conclusions NGS-CNVA has lower failure rate, higher resolution, lower specimen requirement and shorter report time than karyotype analysis when used for the genetic analysis of missed chorionic villi . NGS-CNVA could be a useful genetic analysis method for the missed abortion villi.

OBJECTIVETo apply single nucleotide polymorphism (SNP) microarray for delineation of small supernumerary marker chromosome (sSMC) in two newborns.

METHODChromosome karyotyping was performed on newborns who were born in Jan. 2013 and Jan. 2014 in Haidian Maternal and Child Health Hospital because of the abnormalities found in pregnancy checkups. SNP microarray analysis was carried out on 2 newborns with de novo sSMCs (one was mos 47,XY, + mar[45]/46,XY[5] and the other was mos 47, XY, + mar [30]/46, XY [20]), which could not be determined by conventional banding techniques. Genomic DNA was extracted from cord blood samples, amplified, tagged and hybridized following the manufacturer' s protocol. Data were collected and analyzed.

RESULTThere was a 78. 6 Mb duplication in chromosome 8 for Newborn A, which was associated with 8p22 duplication syndrome; and a 32. 7 Mb duplication in chromosome 13 for Newborn B, which was not yet reported definitely as pathogenic. The newborn A was identified with agenesis of the corpus callosum, obvious right eyelid drooping, the onset of low muscle tone and mental developmental lag behind their peers, while the newborn B had normal findings on physical and mental evaluation.

CONCLUSIONSNP-array can identify sSMCs of newborns at the DNA level, and can be used as an important supplement to the conventional karyotype analysis, but the pathogenicity of positive outputs need further verification.

Chromosome Duplication ; Chromosomes, Human, Pair 8 ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide

The intracellular trafficking and subcellular distribution of exogenous gene is very important for gene delivery. A successful gene vehicle should overcome various barriers including endosomal membrane barriers to delivery gene to the target organelle. Traditional nonviral vehicle is unable to avoid endosomal pathway efficiently, so the efficiency of gene delivery is low and the application of gene drugs is limited. In order to achieve efficient nonviral gene delivery, a lot of researches based on endosomal escape have been carried out and some agents with the function of endsomal escape have been found. These agents facilitate the endsomal escape via various mechanisms, such as fusion into the lipid bilayer of endosomes, pore formation in the endosomal membrane, proton sponge effect and photochemical methods to rupture the endosomal membrane. In this review, various reported strategies for endsomal escape are described according to the escape mechanisms, and their applications in intracellular gene delivery are also discussed.
Cell Membrane ; metabolism ; Endosomes ; metabolism ; Gene Transfer Techniques ; Genetic Therapy ; Genetic Vectors ; Humans

OBJECTIVE: To observe the expression pattern of caspase-3 and HCLS1-associated protein X-1 (HAX-1) at different time after cerebral contusion in rat, and explore the new method for estimating the injury interval. METHODS: The cerebral contusion model was established using adult SD male rats. Then the rats were randomly allocated into 8 groups: 2 h, 6 h, 12 h, 1 d, 3 d, and 7 d after cerebral contusion, sham-operation and normal control. Expression of caspase-3 and HAX-1 protein after cerebral contusion in rat was detected by Western blotting. Laser scanning confocal microscope was used to observe the number of HAX-1 positive cells and TUNEL-stained cells after cerebral contusion. RESULTS: The expression of caspase-3 increased parallelly with the time after cerebral contusion and reached the peak value on 3 d. The expression of caspase-3 decreased gradually and still maintained a high level expression on 7 d (P < 0.05). The expression of HAX-1 positive cell went up after injury, and reached the peak value at 6 h (P < 0.05), then turned down gradually after 12 h and went out of detection after 3 d. The number of TUNEL-stained cells increased obviously at 2 h and reached the peak value on 3 d. The number of TUNEL-stained apoptotic cells decreased gradually and still maintained a high level expression on 7 d (P < 0.05). CONCLUSION The expression of caspase-3 and HAX-1 after cerebral contusion has time sequential regularity, which may provide new evidence for forensic diagnosis of cerebral contusion interval.
Animals ; Blotting, Western ; Brain Injuries/pathology* ; Carrier Proteins/metabolism* ; Caspase 3/metabolism* ; Cerebellum/pathology* ; In Situ Nick-End Labeling ; Intracellular Signaling Peptides and Proteins ; Male ; Rats ; Rats, Sprague-Dawley

Objective To evaluate the effect of the esophagus invert stripping without opening the thoracic cavity on carci- noma in the inferior pharynx, cervical esophagus or the cardia. Method Eighteen patients with carcinoma in the inferior pharynx, cervical esophagus or the cardia were treated surgically with invert stripping of the exophagus without opening the thoracic cavity. Ten patients received antidromic esophagus invert stripping and the other 8 underwent orthodromic esophagus invert stripping. The esophagus of these patients were replaced with either the stomach (in 15 cases) or the colon (in 3 cases), and complete removal of the pharynx and larynx were performed in 2 cases, both of which received permanent fistulization. Result No death occurred during the operation and the complications included anastomotic leakage (2 cases), injury of the recurrent laryngeal nerve (2 cases), pulmonary infection (3 cases), and incision infection (1 case). The follow-up survey showed that the 1-year, 3-year and 5-year survival rates were 77%, 44% and 22%, respectively. Conclusions This surgical approach reduces the damage of the cardiopulmonary function, which can be meaningful for senior patients and those with cardiac or pulmonary problems. The carcinoma in the inferior pharynx or cervical part of the esophagus should be treated surgically to improve the survival rate, but this approach should be avoided in patients with carcinoma in thoracic part of the esophagus.

Objective To evaluate the effect of the esophagus invert stripping without opening the thoracic cavity on carci- noma in the inferior pharynx, cervical esophagus or the cardia. Method Eighteen patients with carcinoma in the inferior pharynx, cervical esophagus or the cardia were treated surgically with invert stripping of the exophagus without opening the thoracic cavity. Ten patients received antidromic esophagus invert stripping and the other 8 underwent orthodromic esophagus invert stripping. The esophagus of these patients were replaced with either the stomach (in 15 cases) or the colon (in 3 cases), and complete removal of the pharynx and larynx were performed in 2 cases, both of which received permanent fistulization. Result No death occurred during the operation and the complications included anastomotic leakage (2 cases), injury of the recurrent laryngeal nerve (2 cases), pulmonary infection (3 cases), and incision infection (1 case). The follow-up survey showed that the 1-year, 3-year and 5-year survival rates were 77%, 44% and 22%, respectively. Conclusions This surgical approach reduces the damage of the cardiopulmonary function, which can be meaningful for senior patients and those with cardiac or pulmonary problems. The carcinoma in the inferior pharynx or cervical part of the esophagus should be treated surgically to improve the survival rate, but this approach should be avoided in patients with carcinoma in thoracic part of the esophagus.

Background Surgery is regarded as the most effective treatment to relieve pain and reduce complications in chronic pancreatitis (CP).Two major strategies exist:duodenum-preserving pancreatic head resection (DPPHR) and pancreatoduodenectomy (PD).Many studies suggest that DPPHR offers advantages during surgery and in the short-term; however,the long-term effects have not been thoroughly investigated.We analyzed the long-term outcomes of DPPHR and PD,over follow-up times of at least 1 year,to determine the optimal surgical treatment for CP.Methods We systemically reviewed all CP surgical treatment reports,and only included randomized controlled trials (RCT) comparing DPPHR and PD,excluding unqualified studies using several pre-specified criteria.When multiple publications of a single trial were found,the most comprehensive current data were selected.Characteristics of the study populations and long-term postoperative outcome parameters were collected.The quality of the studies and data was analyzed using RevMan 4.2 software.Results Five trials were qualified for meta-analysis,with 261 participants in total (114 in the DPPHR group and 147 in the PD group).There were no significant differences in the age,gender,or indications for surgery of each group.At the mean of 5.7-year (1-14 years) follow-up examination,DPPHR and PD resulted in equally effective pain relief,exocrine and endocrine function,and similar mortality rates (P ＞0.05); however,DPPHR patients had improved global quality of life and weight gain,and reduced diarrhea and fatigue (P ＜0.05).Conclusion DPPHR and PD result in equal pain relief,mortality,and pancreatic function; however,DPPHR provides superior long-term outcomes.

OBJECTIVETo evaluate the efficacy and safety of fast track surgery(FTS) in patients undergoing laparoscopic colorectal resection.

METHODRandomized controlled trials(RCT) or clinical controlled trials(CCT) on fast-track surgery in patients undergoing laparoscopic colorectal resection were obtained from databases including CNKI, Wanfang, PubMed, EMBACE, and Cochrane Library between January 2000 and March 2012. Meta-analysis was performed with RevMan 5.1.

RESULTThere were 6 RCTs and 7 CCTs including 1795 patients. There were 955 patients in the FTS group and 840 in the control group. The time to passage of flatus was shorter(WMD=-1.37, 95%CI:-1.55~-1.19, P<0.05), time to resumption of diet/drink was shorter(WMD=-2.62, 95%CI:-2.69~-2.55, P<0.05), length of postoperative hospital stay was decreased(WMD=-1.63, 95%CI:-1.92~-1.34, P<0.05) and the incidence of postoperative complications were less(OR=0.52, 95%CI:0.41~0.67, P<0.05) in the FTS group. However, there were no differences in readmission(P>0.05).

CONCLUSIONFast-track surgery in patients undergoing laparoscopic colorectal resection can promote bowel function recovery, decrease the incidence of postoperative complications and length of hospital stay.

Controlled Clinical Trials as Topic ; Digestive System Surgical Procedures ; Humans ; Incidence ; Laparoscopy ; Length of Stay ; Postoperative Complications

BACKGROUNDSurgery is regarded as the most effective treatment to relieve pain and reduce complications in chronic pancreatitis (CP). Two major strategies exist: duodenum-preserving pancreatic head resection (DPPHR) and pancreatoduodenectomy (PD). Many studies suggest that DPPHR offers advantages during surgery and in the short-term; however, the long-term effects have not been thoroughly investigated. We analyzed the long-term outcomes of DPPHR and PD, over follow-up times of at least 1 year, to determine the optimal surgical treatment for CP.

METHODSWe systemically reviewed all CP surgical treatment reports, and only included randomized controlled trials (RCT) comparing DPPHR and PD, excluding unqualified studies using several pre-specified criteria. When multiple publications of a single trial were found, the most comprehensive current data were selected. Characteristics of the study populations and long-term postoperative outcome parameters were collected. The quality of the studies and data was analyzed using RevMan 4.2 software.

RESULTSFive trials were qualified for meta-analysis, with 261 participants in total (114 in the DPPHR group and 147 in the PD group). There were no significant differences in the age, gender, or indications for surgery of each group. At the mean of 5.7-year (1 - 14 years) follow-up examination, DPPHR and PD resulted in equally effective pain relief, exocrine and endocrine function, and similar mortality rates (P > 0.05); however, DPPHR patients had improved global quality of life and weight gain, and reduced diarrhea and fatigue (P < 0.05).

CONCLUSIONDPPHR and PD result in equal pain relief, mortality, and pancreatic function; however, DPPHR provides superior long-term outcomes.

Duodenum ; surgery ; Humans ; Pancreatectomy ; methods ; Pancreaticoduodenectomy ; methods ; Pancreatitis, Chronic ; psychology ; surgery ; Quality of Life ; Time Factors