Video-assisted thoracic surgery (VATS) is high-skilled operation,which is tacit,scene-related,hard to transfer and individualized.The action formation of VATS is implemented by action orientation,imitation,integration,training and automation.The skill acquisition of VATS involves four overlapping steps:studying examples to do analogy,developing abstract rules,slowly moving to the use of production rules and retrieving specific examples.Research on teaching methods of VATS in the view of tacit knowledge helps to learn this skill better and more quickly.

Objective To analyze safety,efficacy and resection methods of video-assisted thoracic surgery(VATS) for the treatment of intralobar pulmonary sequestration(IPS).Methods Data of 17 patients who were diagnosed as IPS and received VATS from December 2006 to September 2011 were retrospectively analyzed.The patients were 7 males and 10 females with the mean age of 40.3 (14-61) years.Diagnosis was confirmed in 9 patients by enhanced CT and unconfirmed in 8 patients.Three ports were used for surgery.After the aberrant artery was confirmed,liner stapler was used in 16 patients to cut it and Hem-o-lok was used in 1 patient because the aberrant artery was about 3 mm in diameter and long enough.If the diameter of the aberrant artery was longer than 10 mm,a stapling device without knife was used to occlude it centrally and a second stapling device was used to cut it peripherally.Wedge resection or lobectomy was performed due to the different conditions.When the lesion was small with linited range in CT image and the lesion was easily distinguished from normal lung tissue during operation,wedge resection was preferred.Results Seventeen patients underwent VATS successfully without any conversion to thoracotomy or any serious complications.Five patients were planned to receive wedge resection and one was converted to lobectomy.Another 12 patients were planned to receive lobectomy and all succeeded.The mean operating time was 128 (80-170)min.The mean blood loss was 80 (5-200) ml.The mean days of chest tube maintained were 4.0 (2-6) days.The mean postoperative hospitalization days were 7.6 (4-11) days.All patients were diagnosed as IPS according to operating in-sight and postoperative pathology.There was no patient suffering from chronic cough,bloody sputum or recurrent pneumonia during the follow-up.Conclusion VATS for the treatment of IPS is safe and feasible.If conditions permit,wedge resection or segmentectomy may be preferred.

OBJECTIVETo identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.

METHODSUrine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene. DNA sequencing was applied to analyze the mutation detected by PCR-DHPLC.

RESULTSAbnormal peaks were found by PCR-DHPLC. A new frame-mutation (1569+TT) in exon 9 of IDS gene was identified by DNA sequencing. Two "T"q inserted in position 1569 base pair (1569+TT) caused a substitution of codon 482 (TTA, leucine) to 482 (TTT, phenylalanine). The "TT" insertion results in the decrease of amino acids from 550 to 482. The patient is a hemizygote and his mother is a heterozygote.

CONCLUSIONA new frame-shift mutation of IDS gene is found to report. The mutation (1569+TT) results in 68 amino acids lost. Probably it causes the enzyme activity seriously dropped down and being pathologically the basis of disease.

Child, Preschool ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Humans ; Iduronate Sulfatase ; genetics ; Male ; Molecular Sequence Data ; Mucopolysaccharidoses ; genetics ; Mucopolysaccharidosis II ; enzymology ; genetics ; Mutation

OBJECTIVETo detect gene mutation in proband and his mother from a family with piebaldism.

METHODSDiagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.

RESULTSG1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.

CONCLUSIONThe mutation of V604I is the cause of clinical phenotype of the family with piebaldism.

Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Humans ; Male ; Mutation ; Piebaldism ; genetics ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit ; genetics

Adult ; Cartilage Diseases ; diagnosis ; etiology ; Female ; Humans ; Knee Joint ; surgery ; Menisci, Tibial ; surgery

Objective:To explore the mechanism of the alternation of RR interval length in atrioventricular reentrant tachycardia (AVRT).Methods:From August 2009 to August 2016, 317 patients with AVRT were treated by radiofrequency catheter ablation in cardiology department of TEDA International Cardiovascular Hospital were analyzed retrospectively.During AVRT, 5 mg of verapamil was given slowly intravenously for 10 min.After administration, the changes of RR interval, AH interval, HV interval and VA interval were observed and the time of changes was also observed.Results:After administration of verapamil, there were 8 patients with RR interval alternation and QRS wave alternation.When RR interval alternation occurred, the difference of AH interval between adjacent heart beats was gradually extended, without AH jump, and the HV interval and VA interval were constant.This phenomenon occurred 6-17 minutes after administration, and the average cycle of tachycardia was 16-42 ms longer than before administration.In 3 patients, RR interval alternation occurred.When the phenomenon disappeared, the difference of AH interval between adjacent heart beats was gradually shortened, there was no AH jump, and the interval between HV and VA was constant until AH interval was equal, the disappearance time was 19-57 min after administration; AVRT was terminated in 5 patients after administration.Conclusion:It can be concluded that the mechanism is due to the frequency dependent decreasing conduction of AH interval in tachycardia, which can not be induced by program stimulation.

OBJECTIVETo investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.

METHODSUsing NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.

RESULTSAbnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation.

CONCLUSIONThis complex mutation may be the cause of reduced activity of G6PD enzyme.

Base Sequence ; DNA Mutational Analysis ; Exons ; genetics ; Genetic Testing ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; enzymology ; genetics ; Humans ; Introns ; genetics ; Molecular Sequence Data ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Polymorphism, Single-Stranded Conformational

OBJECTIVETo detect the gene mutation of a family with piebaldism.

METHODSDiagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.

RESULTSG 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.

CONCLUSIONThe mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.

Adult ; Base Sequence ; China ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation, Missense ; Pedigree ; Piebaldism ; genetics ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit ; genetics ; Sequence Analysis, DNA

OBJECTIVEOf denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.

METHODSWhen applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment.

RESULTSThe G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence. Further, the standard chromatograms were put into database for 8 kinds of common G6PD deficient variants in Chinese populations. And also DHPLC found 3 G6PD variants (1388 G-->A) from 103 negative controls. With taking 8.8 minutes and costing 1 dollar for each sample, DHPLC successfully detected and identified 34 heterozygous females from patients with G6PD deficiency. However, ARMS checked 83 positive controls but got 12 false G6PD mutants, of which 5 were false positive, 7 false negative. Above results show that DHPLC sounds like to be more convenience, sensitive and accurate than ARMS and DNA sequence techniques for checking G6PD mutants.

CONCLUSIONDHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.

Chromatography, High Pressure Liquid ; methods ; DNA Mutational Analysis ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; genetics ; Humans ; Male ; Mutation ; Reproducibility of Results

OBJECTIVETo investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment.

METHODSAudiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing.

RESULTSDirect sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss.

CONCLUSIONThe GJB2 mutations may be an aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.

Adolescent ; Adult ; Alleles ; Base Sequence ; Child ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Female ; Genotype ; Hearing Loss ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide