Volume 87  ·   Issue 16  ·  2007

In the past 10 years, the research of hereditary deafness has developed rapidly. Since the first non-syndromic deafness gene was discovered in 1995, 131 non-syndromic deafness gene loci have been mapped, among which 41 deafness-related genes have been cloned (http: / /webhost.ua.ac.be/hhh/).

Deafness is the most common sensory disorder and the most common cause of communication disorders. According to the estimation of the World Health Organization in 2002, at least 250 million people in the world suffer from moderate or above hearing loss. The population of hearing and speech disabilities in China has reached more than 20 million, ranking first among all kinds of disabilities [1].

The Pancreatic Cancer Professional Committee of China Anti-Cancer Association has formulated standardized treatment guidelines for pancreatic cancer. The clinical staging of early pancreatic cancer is basically consistent with the protocol of the International Anti-Cancer Federation. The importance of lymph node dissection for pancreatic cancer for prognosis is emphasized.

Objective to investigate the significance of connexin gene mutation in the pathogenesis of sporadic deafness, and to map the mutation spectrum of connexin gene in the deaf population in northern China. Methods the genetic deafness resources collected by the Hereditary Deafness Genetic Resource Collection Network were used to detect the mutation of serial connexin gene (GJB2, GJB3 and GJB6) in the deaf population. The coding region of connexin gene was amplified by PCR, and the mutation was detected by direct sequencing, and the experimental results were collated, bioinformatics and statistical analysis.Results (1) The subjects were 214 patients with sporadic deafness, including 66 cases of prelingual deafness, 94 cases of postlingual deafness, 32 cases of auditory neuropathy and 22 cases of large vestibular aqueduct syndrome (EVAS), and 86 cases of normal hearing were used as controls. (2) A total of 16 kinds of connexin gene sequence changes were detected in this group (9 kinds of GJB2 gene, 6 kinds of GJB3 gene and 1 kinds of GJB6 gene); A total of 157 patients (73.36% (157/214)) carried various connexin gene sequence changes; The incidence of GJB2-235 delC in prelingual deafness group was 16.67%. Conclusion It was found that 235 delC mutation in GJB2 gene accounted for the highest proportion in prelingual hearing loss in northern Han nationality, which was the main cause of prelingual hearing loss, while 35 delG and GJB6 gene were deleted [ △ (GJB6/D13S1830)] is uncommon in Chinese people with deafness.

Objective to investigate the incidence and characteristics of Connexin26 gene (GJB2) mutation and mitochondrial 12S rRNA mutation in non-syndromic deafness patients undergoing cochlear implantation. Methods A total of 100 patients undergoing cochlear implantation were selected, 96 cases of prelingual deafness and 4 cases of postlingual deafness. The total DNA was extracted from peripheral venous blood, and the nucleotide PCR of GJB2 gene and mitochondrial 12S rRNA gene was performed. The amplified gene fragments were sequenced to detect the mutation of GJB2 gene and mitochondrial 12S rRNA gene.Results The highest mutation rate of GJB2 gene was found in non-syndromic deafness patients undergoing cochlear implantation, 34% (34/100), and the main mutation type was 235delC, accounting for 27%; Conclusion GJB2 gene mutation is the highest in patients with cochlear implant, 235delC is the main mutation type, and 12S rRNA gene mutation A1555G is a common mutation in patients with postlingual deafness with aminoglycosides.

Objective to analyze the molecular pathogenic mechanism of deaf families by genetic diagnosis, and to identify the genotypes of fetal deafness by prenatal diagnosis, so as to provide accurate genetic counseling, guidance and intervention for deaf families with different causes.Methods A total of 5 deaf families participated in the study, of which 3 families (family 1~3) had normal hearing, one child of these 3 families was a child with moderate to severe sensorineural deafness, and the mothers were pregnant (6~18 weeks) at the time of examination. In one family (family 5), the husband was normal hearing and the wife was severely deaf. All patients were collected from peripheral blood and DNA extraction, and GJB2, SLC26A4 (PDS) gene analysis and mitochondrial DNA 1555 mutation detection were performed. Results In family 1, the proband carried GJB2 complex mutation, and the parents were carriers. Prenatal diagnosis showed that the fetus only carried one paternal mutation, and the hearing was normal after birth follow-up; The proband of family 2 carried SLC26A4 (PDS) complex mutation, and the parents were carriers. Prenatal diagnosis showed that the fetus only carried one paternal mutation, and the hearing was normal after birth follow-up; No common deafness mutation was detected in the 3 probands and their parents, and the hearing was normal after the second child was born; The husband of family 4 is homozygous for GJB2 235delC mutation and the wife is positive for mitochondrial DNA A1555G mutation. It is recommended that aminoglycoside antibiotics be strictly prohibited for their offspring; The wife of family 5 is SLC26A4 (PDS) complex mutation and the husband is a carrier of SLC26A4 (PDS) heterozygous mutation, and the risk of large vestibular aqueduct syndrome (EVAS) in their offspring is predicted to reach 50%. Conclusion Genetic diagnosis of deafness combined with prenatal diagnosis can play a clear guiding role in preventing rebirth of deaf children in deaf families, and can introduce correct intervention mechanism.

Objective to observe the changes of cardiac function in different atrioventricular interval (AVD) with dual-chamber pacemaker pacing by atrioventricular omnipotent mode, so as to explore the optimal AVD and guide the setting of AVD parameters of clinical programmed pacemaker.Methods Thirty patients with atrioventricular block were implanted with dual-chamber pacemaker, 18 males and 12 females. The peak systolic velocity and peak systolic time (the time from the start of systole to the peak systolic value) of interventricular septum and basal segment of left ventricular wall were measured by tissue Doppler velocity-time curve at different programmed AVD. Cardiac output (CO), cardiac index (CI), stroke output (SV), left ventricular ejection fraction (LVEF), left ventricular end systolic diameter (LVESd) and end diastolic diameter (LVEDd) were measured on conventional two-dimensional ultrasound section. AVD increased from 100 ms to 250 ms in 30 ms steps. Results Different programmed AVD had different effects on cardiac function. CO (5.5 L/min ± 1.1 L/min, P<0.05), CI (3.5 L · min-1 · m-2 ± 0.8 L · min-1 · m-2, P<0.05), SV (78 ml ± 13 ml, P<0.05), LVEF (67% ± 7%, P<0.05), LVEDd (121 mm ± 29 mm, P<0.05) All of them reached the maximum value, and LVESd reached the minimum value (37 mm±16 mm,P<0.05); The peak systolic velocity of interventricular septum and the basal segment of left ventricular walls were the fastest, the peak time of systolic contraction was the shortest, and the synchronization of each wall motion was the best (P<0.05). Conclusion The optimal choice of AVD (160 ms) dual-chamber pacemaker has a significant effect on the improvement of heart function.

Objective to investigate the correlation between human apolipoprotein C Ⅲ (ApoC Ⅲ) gene polymorphism and abnormal lipid metabolism and coronary heart disease. Methods 400 healthy blood donors and 360 patients with coronary heart disease were studied. Blood biochemical detection and whole blood DNA extraction were performed by intravenous blood sampling. The relationship between apolipoprotein C Ⅲ-625 and-455 loci variation and coronary heart disease and blood lipid was analyzed by fluorescence real-time quantitative PCR (FQ-PCR). Results The homozygous genotype of apolipoprotein C Ⅲ-455C in the coronary heart disease group (101 cases, 70.1%) was significantly higher than that in the control group (85 cases, 53.1%), and the genotype of-625del-455C (49.3%) was significantly higher than that in the control group (41 cases, 25.6%). The expression of apolipoprotein C Ⅲ-455C gene in the simple hyperlipidemia group and the hyperlipidemia complicated coronary heart disease group was higher.

Objective to evaluate the diagnostic value of spiral CT in adult intussusception and analyze the diagnostic value of the primary pathogenesis of intussusception. Methods the CT data of 68 cases of adult intussusception confirmed by surgery in Sir Run Run Shaw Hospital affiliated to Zhejiang University and Lishui Central Hospital of Zhejiang Province were retrospectively analyzed. 42 males and 26 females, aged 30-82 years (average 52.5 years), with a course of 3 days to 13 months. Results of 68 cases of intussusception, 66 cases (97.1%) were diagnosed by CT. The main direct signs were: (1) concentric circle sign or comet tail sign, 66 cases; (2) Vascular involvement sign (61 cases); (3) Fat sign, 58 cases. The main indirect signs were: (1) Target ring sign, 19 cases; (2) Intestinal obstruction, 24 cases; (3) Ascites, 4 cases; (4) Other signs such as adjacent mesenteric or fascial infiltration in 4 cases and retroperitoneal lymph node enlargement in 8 cases. The accuracy of spiral CT in diagnosing the primary disease of intussusception is 72.1%. Conclusion Spiral CT has important value in diagnosing intussusception and its primary disease in adults. The specific signs in diagnosing intussusception are concentric circle sign, vascular involvement sign and fat sign.

Objective to investigate the polymorphism of interleukin 6 (IL-6) gene promoter-572C/G and-634C/G in esophageal carcinoma patients, and to investigate the relationship between IL-6 genotype and its serum level and esophageal carcinoma. Methods the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the IL-6 gene polymorphism in 118 esophageal carcinoma patients and 130 healthy controls, and the serum level of IL-6 was detected by enzyme-linked immunosorbent assay. Results the genotype and allele frequency of IL-6-634C/G were significantly different between esophageal carcinoma group and control group (P<0.05); Compared with the control group, the relative risk of esophageal cancer in G allele carriers was 1.759 times that of C allele (OR =1.759, 95% confidence interval 1.150~2.691). The level of IL-6 in esophageal cancer group was significantly higher than that in the control group (16.9 ng/L ± 5.3 ng/L vs 4.6 ng/L ± 2.6 ng/L, P<0.01). The serum IL-6 level in esophageal cancer patients with G allele was significantly higher than that in non-carriers (18.8 ng/L ± 6.1 ng/L vs 13.2 ng/L ± 6.0 ng/L, P<0.01). There was no significant difference between the polymorphism of IL-6 gene-572C/G between the esophageal cancer group and the control group (P>0.05). Conclusion There may be a correlation between the polymorphism of IL-6 gene-634C/G and esophageal cancer; Individuals carrying the G allele may increase the risk of esophageal cancer by promoting high expression of IL-6.

Objective to perform DNA-based typing diagnosis in a child with oculocutaneous albinism (OCA), and on this basis to perform prenatal genetic diagnosis of OCA. Methods PCR, DNA sequencing and denaturation high performance liquid chromatography (DHPLC) were used to analyze the OCA-related genes of the child and its parents. After determining the typing diagnosis and genotype of the child, the amniotic fluid was taken at the 20 weeks of pregnancy, and the prenatal genetic diagnosis of OCA was performed by DNA sequencing technique. Results There was no mutation in TYR gene in the proband, and there were mutations in N476D and Y827H in one pair of P genes, respectively. These two mutation alleles were not found in 100 normal phenotypes in the population. The fetus obtained the maternal N476D mutation, but not the paternal Y827H mutation, which presumed that the fetus was the carrier of the pathogenic gene with normal phenotype. The phenotype of the fetus was normal after birth, which was consistent with the results of prenatal genetic diagnosis. Conclusion The prenatal genetic diagnosis of OCA2 was successfully carried out in one case and two new pathogenic P gene mutations, N476D and Y827H, were found. It is of great significance to carry out basic research and prevention and eugenics of this disease in the future.

Objective to compare the CT enhancement degree of pancreatic cancer and inflammatory pancreatic masses, and to study the diagnostic value of pancreatic CT enhancement degree in each stage for these two diseases.Methods 85 patients with pancreatic cancer and inflammatory pancreatic masses were subjected to plain scan,pancreatic phase enhancement and delayed phase enhancement scan.The CT values of pancreatic masses and normal pancreatic tissues were measured and statistically analyzed.Results 85 patients, 66 cases of pancreatic cancer and 19 cases of inflammatory pancreatic mass.In plain scan,pancreatic phase enhancement and delayed phase enhancement, the CT values (HU) of pancreatic cancer masses were 34±7,54±10,61±14,respectively, and their CT values were 42±6,105±12,77±10,respectively, and those of inflammatory pancreatic masses were 37±6,58±17,64±10,respectively, and their CT values were 40±8,85±10,72±9,respectively. In the pancreatic cancer group and the inflammatory pancreatic mass group, compared with the normal pancreatic tissue, the enhancement of pancreatic stage was obvious in the former, while the enhancement of the latter was moderate.

Objective to understand the normal pubertal development time and process of healthy male adolescents in Daqing, China, and help clinicians to diagnose abnormal pubertal diseases.Methods A combination of longitudinal and transverse research methods was used to investigate the levels of luteinizing hormone (LH), follicle stimulating hormone (FSH) and testosterone, height, weight, Tanner stage of puberty and other anthropometric indexes of 150 healthy male adolescents aged 6-15 in Daqing, northern China, for 4 consecutive years. The data were combined and analyzed according to age by person, and the change trends of the above indexes were observed. The age of initiators of puberty was observed. Results The initiation age of puberty of healthy male adolescents in Daqing, northern China was (12.0±1.6) years; The growth rate in the first year after the initiation of puberty was (6.9 ± 0.4) cm/year; The level of serum testosterone was (1.0 ± 0.3) nmol/L. Conclusion The initial age of puberty in healthy male adolescents in Daqing, northern China was 8~14 years old.

Objective to analyze the imaging characteristics of different subtypes of renal cell carcinoma and improve the diagnosis level. Methods the difference of B-ultrasound, CT and MRI in 37 cases of renal cell carcinoma (29 cases of clear cell carcinoma, 7 cases of papillary carcinoma and 1 case of chromophobe cell carcinoma) was compared and analyzed. Results B-ultrasound in 32 cases of solid renal carcinoma showed that clear cell carcinoma showed hypoechoic (20/26), papillary carcinoma showed equal or weak strong echoic (4/5), and chromophobe cell carcinoma showed moderate strong echoic (P =0.005). The difference between clear cell carcinoma and non-clear cell carcinoma was statistically significant (P =0.005). CT examination in 29 cases of solid renal carcinoma showed soft tissue density shadow on average scan of clear cell carcinoma (23 cases) and non-clear cell carcinoma (6 cases), but clear cell carcinoma showed obviously uneven enhancement after enhancement, and the enhancement amplitude was significantly higher than that of non-clear cell carcinoma (P =0.004). Contributes to the preoperative diagnosis of renal cell carcinoma subtypes.

Objective to investigate the safety of coronary artery stenting in the treatment of elective unprotected left main coronary artery (ULMCA) lesions and the clinical effect of 2 years postoperative.Methods The data of 416 cases of ULMCA who underwent coronary artery stenting in Shenyang Military Region General Hospital from September 1997 to January 2007.Results 291 cases (70.0%) were located at the distal bifurcation.A total of 503 stents were implanted in ULMCA target lesions.The success rate of stent implantation was 99.5%, there were no deaths during hospitalization, and 2 cases were reconstructed from target lesions.The incidence of major adverse cardiac events (MACE) was 0.5% (2/416). During the follow-up period, 16 cases (3.9%) died, including 12 (2.9%) cardiac deaths.136 cases (33.1%) were followed up by angiography, and 20 cases (14.7%, 20/136) restenosis occurred in target lesions.14 cases underwent coronary artery bypass grafting and 6 cases were implanted with drug-eluting stents.The total incidence of MACE after elective PCI in ULMCA The mean follow-up of 2 years was better. The effective strategies to reduce the incidence of restenosis and MACE after PCI (such as the selection of drug-eluting stent and the implantation method, etc.) deserve further discussion.

Objective to explore the characteristics of cognition, communication and speech development of deaf infants and young children after hearing aids. Methods Thirty-nine infants and young children diagnosed with congenital severe deafness were divided into group A (20 cases, who started hearing aids before 8 months) and group B (19 cases, who started hearing aids after 8 months). The actions, communication modes and vocalization of the children were recorded and recorded by digital video camera. The time needed to adapt to hearing aids and establish fixation communication, the appearance time of finger vocalization and other speech development in the two groups were statistically analyzed, and the vocalization of the two groups was analyzed by sound spectrum. Results The time needed to adapt to hearing aids, establish fixation communication and appearance time of finger vocalization were (0.5±0.2) months, (0.6±0.2) months and (12.1±2.1) months in group A, respectively; Group B: (2.3±0.5) months, (2.2±0.3) months and (16.1±4.5) months, respectively; From the analysis of speech development, the difference in the appearance time of transitional murmurs between the two groups was not statistically significant, but the difference in the appearance time of standard murmurs and meaningful words was statistically significant. Conclusion Early hearing aids have the characteristics of short adaptation time to hearing aids, easy to form fixation communication, early appearance of finger vocalization and good speech development; It is suggested that early and effective hearing aids are the prerequisite for stimulating cognitive development and speech development.

Objective to investigate the effect of daunorubicin on the expression of brain natriuretic peptide in rat cardiomyocytes. Methods The cardiomyocytes were isolated and cultured in vitro. The cell proliferation and expression of brain natriuretic peptide in each group were detected by tetrazolium salt colorimetric assay, RT-PCR and Western blot. Results After the application of daunorubicin, the mean gray ratio of brain natriuretic peptide mRNA expression and internal reference GAPDH expression in rat cardiomyocytes decreased from (0.94±0.25) to (0.32±0.18, P<0.01), and the mean photometric ratio of Western blotting to internal reference GAPDH decreased from (0.82±0.13) to (0.40±0.09, P<0.01). The mean gray ratio of Western blotting to internal reference GAPDH expression and the mean photometric ratio of Western blotting to internal reference GAPDH were respectively

Objective to observe the effect of amniotic membrane on the proliferation ability of rabbit retinal Müller cells cultured in vitro. Methods (1) The fourth generation rabbit retinal Müller cells were inoculated in 96-well plates at a density of 3×104 cells/ml, 200 μ L/well, and then added with different concentrations of amniotic membrane homogenate conditioned medium (800, 400, 200, 100 μ g/ml) for 24, 48 and 96 h. The proliferation rate of Müller cells was detected by tetramethylazole salt (MTT) assay after 24, 48 and 96 h. (2) The fourth generation rabbit retinal Müller cells were inoculated in 6-well plates with coverslips at a density of 4×104 cells/ml. After 24 h, different concentrations of amniotic membrane conditioned medium were added. After 48 h, nuclear proliferation antigen (PCNA) was detected by immunohistochemistry. (3) The fourth generation rabbit retinal Müller cells were inoculated in 6-well plates at a density of 4×104 cells/ml, and after 24 h, different concentrations of amniotic membrane conditioned medium were added. The cell cycle analysis showed that the number of cells entering S phase increased significantly (56.49%). Under the condition of constant concentration of amniotic membrane homogenate, the proliferation effect on retinal Müller cells was gradually strengthened with the prolongation of time, and the proliferation effect was higher at 48 h, 96. There was no statistically significant difference compared with 48 h (F =0.233, 0.007, P =0.492, 0.729). The positive expression rate of PCNA in 800 μ g/ml group and 400 μ g/ml group (0.84±0.07; 0.79±0.06) was statistically significant compared with that in the control group (0.64±0.12) (x2= -0.182, -0.151, P =0.002, 0.015). Conclusion Amniotic membrane can promote the proliferation of rabbit retinal Müller cells cultured in vitro in a concentration-and time-dependent manner.

After the onset of acute severe pancreatitis (SAP), the peripancreatic retroperitoneal chemical inflammation spread rapidly from the mesenteric root to the internal organs of the abdominal cavity, causing the intraperitoneal pressure (IAP) to increase sharply, resulting in severe compression of the internal and external organs of the abdominal cavity.

With the advancement of antibiotic therapy, the mortality rate caused by meningitis is greatly reduced, but many surviving patients are accompanied by various serious neurological damage, among which deafness is the most common sequela.

A 26-year-old male was admitted to hospital 72 hours after the injury caused by the explosion of gunpowder. The burn area of the whole body was 90%. The admission temperature was 38℃, the respiration was 31 times/min, the pulse was 146 times/min, the rales in both lungs were weak, the respiratory sound in the left lung was weak, the abdominal distension was obvious, and the intestinal sound was 1 time/min.

At present, there are three main options for the prevention of secondary stroke in the world: aspirin alone, aspirin combined with dipyridamole, and aspirin and clopidogrel in vascular stroke. However, there are great controversies about the preventive effect and bleeding risk of different methods.