Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Objective To investigate the usefulness of HC visual laryngoscope designed for unskilled junior emergency resident doctors in respect of increasing the efficiency and success rate of emergency tracheal intubation.Methods A total of 80 patients needed the emergency tracheal intubation were at first divided into two groups randomly (random number).Patients in group A were operated by junior emergency resident doctors and patients in group B were operated by well experienced attending doctors.Then,the two groups of patients above were divided into two groups randomly (random number).Patients in group N were operated with conventional laryngoscope and patients in group HC were managed with HC visual laryngoscope.Then comparisons of the success rate of glottis exposure,the one-time success rate of tracheal intubation,the success rate of tracheal intubation,the complications,the number of attempt in successful intubation cases and the operative time consumed for successful intubation cases among the groups were done.Results (1)The success rate of glottis exposure,the one-time success rate and the success rate of tracheal intubation in group A-HC were 90%,70% and 90%,respectively which were significantly higher than those (50%,20% and 45%)in group A-N (P <0.05).The rate of complication,the number of attempt and operative time consumed for intubation cases in group A-HC were respectively 15%,(1.28 ± 0.43)and (31.44 ±5.06 ) s,which were significantly less than those [45%,(1.89 ±0.79 )and (45.89 ±4.99) s in group A-N (P <0.05 ).(2)The success rate of glottis exposure,the one-time success rate and the success rate of tracheal intubation in group B-N were 80%,65% and 80%, respectively which were significantly higher than those (50%,20% and 45%)in group A-N (P <0.05). The rate of complication,the number of attempt and operative time consumed for successful intubation cases in group B-N were 15%,(1.25 ±0.41)and (39.31 ±4.23)s,respectively which were significantly less than those [45%,(1.89 ±0.79)and (45.89 ±4.99)s]in group A-N (P <0.05).(3)There were no significant statistical differences in above results between group A-HC and group B-HC (P >0.05 ). Conclusions HC visual laryngoscope used by unskilled junior emergency resident doctors for emergency tracheal intubation,could increase success rate of glottis exposure,decrease the number of attempt of intubation,decrease rate of complication,shorten operative time required for intubation thus improving efficiency and success rate of emergency tracheal intubation,and maybe narrow the skill gap between unskilled junior resident doctors and well experienced attending doctors in respect of emergency tracheal intubation.

OBJECTIVETo explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODSThe patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTSThe patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSIONThe microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

Adult ; Chromosome Banding ; methods ; Chromosome Deletion ; Chromosomes ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Intellectual Disability ; genetics ; Karyotype

Objective:To explore the mechanism of pioglitazone in reducing lung injury induced by acute pancreatitis.Methods:Thirty healthy male SD rats were randomly(random number) divided into the sham operation group, model group and pioglitazone group, with 10 rats in each group. After anesthesia, the rats in the sham operation group were injected with normal saline retrogradely through the pancreaticobiliary duct. In the model group, after anesthesia, the rats were retrogradely injected with sodium taurocholate into the pancreaticobiliary duct to construct the lung injury model of severe acute pancreatitis. In the pioglitazone group, the model was established after intraperitoneal injection of pioglitazone. Six rats in each group were randomly selected and killed 12 h after operation, and then lung tissue and venous blood were collected. The levels of serum amylase and TNF-α and NO in lung tissue homogenate were detected and compared among the three groups; the expression of TLR2 mRNA and TLR4 mRNA in lung tissue was detected by RT-PCR and compared among the three groups; the lung tissue pathological injury score and lung leakage index were calculated and compared among the three groups. The correlation of TLR2 and TLR4’s mRNA expression with lung tissue pathological injury score and lung leakage index was analyzed.Results:The levels of serum amylase and the levels of TNF-α and NO in lung tissue homogenate in the model group were significantly higher than those in the sham operation group, and the above indexes in the pioglitazone group were significantly lower than those in the model group ( P<0.05). The expression levels of TLR2 mRNA and TLR4 mRNA in lung tissue, the lung tissue pathological injury score and lung leakage index in the model group were significantly higher than those in the sham operation group, and the above indexes in the pioglitazone group were significantly lower than those in the model group ( P<0.05). Spearman correlation analysis showed that the expression levels of TLR2 mRNA and TLR4 mRNA in lung tissue were significantly positively correlated with the lung tissue pathological injury score ( rs=0.959, P<0.001; rs=0.924, P<0.001). Pearson correlation analysis showed that the expression levels of TLR2 mRNA and TLR4 mRNA in lung tissue were significantly positively correlated with the lung leakage index ( r=0.957, P<0.001; r=0.958, P<0.001). Conclusions:Pioglitazone may reduce the severity of severe acute pancreatitis induced lung injury by inhibiting the expression of TLR2 mRNA and TLR4 mRNA in lung tissue.

Objective:To explore the mechanism of miR-494 negatively regulating ROCK1 and PTEN in inhibiting apoptosis of pancreatic cells and participating in the occurrence and development of acute pancreatitis.Methods:Pancreatic acinar cells AR42J from rats were treated by caerulein, and then the levels of amylase, tumor necrosis factor alpha (TNF-α), interleukin 1 (IL-1) and IL-6 in the supernatant of cell culture were detected by ELISA to verify the cell model of acute pancreatitis. RT-PCR was used to detect the expression of miR-494 in normal AR42J cells (control group) and acute pancreatitis cell model (model group). Flow cytometry was used to detect the apoptosis of the control group, negative control miRNA transfected acute pancreatitis cell model (negative control group) and miR-494 transfected acute pancreatitis cell model (miR-494 transfection group). Western blot was used to detect the expression of ROCK1 and PTEN in the control group, negative control group and miR-494 transfection group.Results:The levels of amylase, TNF-α, IL-1 and IL-6 in the supernatant of AR42J cells treated with caerulein for 8 h and 12 h were significantly higher than those at 0 h and the control group ( P<0.05), indicating that the model was successfully constructed. The expression levels of miR-494 at 8 h, 12 h and 24 h after the establishment of acute pancreatitis cell model were significantly higher than those at 4 h and the control group ( P < 0.05). The apoptosis rate of the model group was significantly higher than that of the control group ( P<0.05), and the apoptosis rate of the miR-494 transfection group was significantly lower than that of the model group ( P<0.05). The expression levels of ROCK1 and PTEN in the miR-494 transfection group were significantly lower than those in the model group and negative control group ( P<0.05). Conclusions:When acute pancreatitis occurs, overexpression of miR-494 can inhibit the expression of pro-apoptotic protein, thus inhibiting the apoptosis of pancreatic acinar cells and promoting the development of acute pancreatitis.

Objective: To explore the role of toll-like receptor 4 (TLR4)/NF-κB signaling pathway in acute necrotizing pancreatitis (ANP)-associated lung injury and the intervention of lipoxin A4 (LXA4) analogue. Methods: Forty-five Sprague-Dawley rats were randomly(random number)divided into the sham operation group, experimental group, and intervention group, each group containing 15 rats. ANP animal models were prepared by injecting sodium taurocholate into biliopancreatic tube in the experimental group. No sodium taurocholate was injected into biliopancreatic duct in the sham operation group. After the preparation of ANP animal models in the intervention group, LXA4 was injected through the tail vein. Rats in each group were randomly divided into 3 subgroups (n=5 each subgroup). The serum amylase, TNF- α, IL-1β, IL-6 and endotoxin levels were detected 6, 12 and 24 h after the operation. The lung injury scores were assessed and the lung wet/dry weight ratio was calculated. The expressions of TLR4 and NF-κB p65 in lung tissues were detected by Western blot. Results: Serum levels of amylase, TNF-α, IL-1β, IL-6 and endotoxin in the experimental and intervention groups were significantly higher than those in the sham operation group, while the levels of the above indicators in the intervention group was significantly lower than those in the experimental group, and the differences were statistically significant (P<0.05). Postoperative lung injury scores and lung wet/dry weight ratio in the experimental group were significantly higher than those in the sham operation group, and the differences were statistically significant (P<0.05). Lung injury scores in the intervention group 6 h after operation had no significant difference compared with those in the sham operation group (P>0.05), while lung wet/dry weight ratio in the intervention group 6 h after operation, and lung injury scores and lung wet/dry weight ratio in the intervention group 12 h or 24 h respectively after operation were significantly higher than those in the sham operation group, with statistically significant differences (P<0.05). Postoperative lung injury scores and lung wet/dry weight ratio in the intervention group were significantly lower than those in the experimental group, and the differences were statistically significant (P<0.05). The expressions of TLR4 and p65 in the lung tissues of the experimental and intervention groups were significantly higher than those of the sham operation group, and the expressions of TLR4 and p65 in the lung tissues of the intervention group were significantly lower than those of the experimental group, with statistically significant differences (P<0.05). Conclusions LXA4 can reduce the severity of acute necrotizing pancreatitis-associated lung injury, and its mechanism is related to reducing the stimulation of endotoxin, thus inhibiting TLR4 signaling pathway and the activation of p65 to down-regulate the level of pro-inflammatory cytokines.

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.
Abnormalities, Multiple ; genetics ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Female ; Humans ; Infant, Newborn ; Phenotype

OBJECTIVETo explore the genetic cause for a child with developmental delay.

METHODSThe karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).

RESULTSThe karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.

CONCLUSIONThe abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Karyotyping ; Mosaicism ; Ring Chromosomes ; Sequence Deletion

Objective To investigate the feasibility and effect of visualization teaching method using HC visual laryngoscope for the standardized training of endotracheal intubation in emergency department.Methods Forty standard-trainee doctors were divided into two groups randomly.20 standard-trainee doctors in team N were taught using the conventional teaching method of emergency medicine for the standardized training of endotracheal intubation,and the other 20 standard-trainee doctors in team HC were taught by visualization teaching method using HC visual laryngoscope.After 1 month training,comparisons of the success rate of tracheal intubation in airway management simulator,the time consumed for intubation and the number of attempt on successful intubation cases,and the satisfaction score with the teaching mode scored by standard-trainee doctors between the two groups were done.Results The one-attempt success rate and the success rate of tracheal intubation in airway management simulator by the standard-trainee doctors in group HC were significantly higher than those in group N (40％ vs.10％,85％ vs.55％),while the number of attempt and the time consumed for successful intubation were significantly less than those in group N[(1.65±0.61) vs.(2.27±0.66),(79.00±8.35) s vs.(89.36±12.03) s).The satisfaction score with this teaching mode and teaching effect of standard-trainee doctors in group HC were significantly higher than those in group N (8.10±0.74 vs.6.55±1.05,8.15±0.80 vs.6.85±0.91).Conclusions The visualization teaching method with application of HC visual laryngoscope for standardized training of endotracheal intubation in emergency department could improve the success rate and efficiency of tracheal intubation in airway management simulator for standard-trainee doctors,and this teaching method may be better than the conventional teaching method on teaching mode presenting some feasibility.

Objective To investigate the feasibility and effect of scene simulation combined with multiple-station mini-CEX evaluation used for the teaching of standardized training of emergency medicine. Methods Sixty standard-trained doctors were randomly(random number) divided into two groups. Thirty standard-trained doctors in team A were taught using the traditional teaching modality of emergency medicine, and the rest in team B were trained using the method of scene simulation combined with multiple-station mini-CEX evaluation. At the end of standardized training, comparisons of the examination results of mini-CEX evaluation and the satisfaction of standard-trained doctors with the teaching mode were done between two groups. Results The scores of team B on medical interviewing skills, clinical judgment, counseling skills, proper presentation/efficiency and overall clinical competence were significantly higher than those of team A[(7.26±0.36),(7.63±0.39),(7.22±0.34),(7.26±0.45), (7.75±0.24) vs. (6.81±0.42),(7.24±0.39),(6.90±0.44),(6.97±0.50),(7.21±0.32)],while there were no significant differences in scores on physical examination skills and humanistic qualities/professionalism between two teams [(7.60±0.36),(7.92±0.35) vs. (7.42±0.30),(7.98±0.32)]. The satisfaction with the mini-CEX evaluation of both teachers and standard-trained doctors in team B were significantly higher than those in team A [(7.40±0.30), (7.46±0.28) vs. (7.06±0.38), (6.91±0.38)]. The satisfaction of standard-trained doctors in team B with the teaching mode and teaching effect were significantly higher than those in team A[(8.17±0.78),(8.59±0.66) (6.67±0.73), (6.80±0.72)]. Conclusions The scene simulation combined with multiple-station mini-CEX evaluation used for the teaching of standardized training of emergency medicine may improve some of the clinical skills of standard-trained doctors, and thus this teaching reform was feasible.