Volume 87  ·   Issue 40  ·  2007

Neonatal hearing screening is a universal hearing screening of all newborns in hospital by using electrophysiological detection technology. The English name is universal newborn hearing screening (UNHS). This socialized and systematic eugenics project was put forward by American scholars in the early 1990s and was first carried out in European and American countries. At present, it has gradually become a global activity.

Deafness is one of the common diseases affecting human health and life, and it is also the most common genetic disease in clinic.According to the statistics of various countries, there are 1~3 deaf children in every 1000 newborns [1], and 60% of the newborn deaf children may be caused by genetic factors [2]. According to the results of the second national sample survey of the disabled published in December 2006, there are 20.4 million hearing disabled people in China, ranking first among all kinds of disabilities.

Objective to investigate the probability and mutation types of SLC26A4 (PDS) gene mutation in cochlear implant patients with inner ear deformity, and to investigate the relationship between SLC26A4 (PDS) gene mutation and various inner ear deformities and the detection rate of auditory nerve electrically evoked compound action potential (ECAP) during operation.Methods 48 cases of cochlear implant patients with inner ear deformity and 50 healthy controls.Genomic DNA was extracted from peripheral blood, and all the coding regions of SLC26A4 (PDS) gene, including exons 2-21, were amplified by polymerase chain reaction. The amplified products were purified and directly sequenced to analyze the mutations. Results the mutation of SLC26A4 (PDS) gene was found in 70.3% (26/37) of patients with vestibular aqueduct enlargement and 18.2% (2/11) of patients with other inner ear malformations. There were 15 mutation types found in this study, of which 8 were newly found. IVS7-2A》G was the most common mutation type of SLC26A4 (PDS) gene, and 45.9% (17/37) of patients with vestibular aqueduct enlargement found this mutation. In cochlear implant patients with inner ear malformation, there was no correlation between SLC26A4 (PDS) gene mutation and the detection rate of electrically evoked compound action potential (ECAP) in auditory nerve during operation. Conclusion SLC26A4 (PDS) gene mutation was the main cause of vestibular aqueduct enlargement, and IVS7-2A》G was the most common mutation type.

Objective to analyze the mutation sequence of GJB2 gene in non-syndromic deafness (NSHI) patients and lay a foundation for mapping the mutation map of GJB2 gene in Chinese NSHI population. Methods Blood samples of 1190 NSHI patients and 301 normal controls from deaf-mute schools in Beijing, Hebei, Heilongjiang, Jilin, Inner Mongolia, Shanxi, Henan, Hubei, Shaanxi, Gansu, Ningxia, Qinghai, Anhui, Jiangsu, Shanghai, Fujian, Guangdong and Guangxi were collected and sequenced by polymerase chain reaction (PCR) amplification products. The sequence changes of GJB2 gene were detected and the sequence changes of GJB2 gene were statistically counted. Results 16 pathological mutations were detected in 1190 patients. The differences of 235delC, 299-300 delAT and 176del16bp were statistically significant between NSHI patients and controls (all P<0.01). Conclusion 235delC was the most common mutation mode of GJB2 gene in Chinese NSHI population, followed by 299-300 delAT and 176del16bp

Objective to evaluate the clinical efficacy of intravenous laser occlusion combined with light-transmitting direct planing and aspiration in the treatment of primary superficial varices. Methods 105 limbs of 82 patients with primary superficial varices were treated with intravenous laser occlusion combined with light-transmitting direct planing and aspiration. The surgical effect was comprehensively evaluated from the aspects of surgical indexes, postoperative complications, postoperative venous function and improvement of patients' quality of life. Results the success rate of intravenous laser occlusion was 98.1% (103/105), and the success rate of light-transmitting direct planing and aspiration was 100% (105/105). The average operative time was 53.8 min (35~108 min), the average operative wound was 4.4 (3~7), and the average postoperative hospital stay was 4.8 d (2~6 d). The follow-up rates at 3, 6 and 12 months postoperatively were 100% (82/82), 93.9% (77/82) and 35.4% (29/82), respectively. The symptoms of all affected limbs were significantly alleviated or completely disappeared at 3 months postoperatively. The photoelectric plethysmography showed that there was no significant difference in VFI, EF and RVF compared with those before operation (P<0.01), and the above indexes at 3, 6 and 12 months postoperatively were not statistically significant compared with those at 1 month postoperatively (P<0.05). There was a significant difference between Aberdeen varicose vein questionnaire (AVVQ) and disease severity score (VCSS) before and after operation (P =0.000), and the satisfaction degree of patients with postoperative limb appearance was 91.5%. Conclusion Intracavitary laser occlusion combined with light-transmitting direct planing and aspiration is an effective method for the treatment of primary superficial varicose veins, with satisfactory cosmetic effect.

Objective to evaluate the effect of reconstruction of right ventricular outflow tract with valved pericardial patch on the prevention of pulmonary regurgitation after tetralogy of Fallot. Methods From January 2001 to January 2004, 20 patients with tetralogy of Fallot underwent reconstruction of right ventricular outflow tract with valved pericardial patch. During the operation, the right ventricular outflow tract was enlarged with pericardial slice, and the reserved part of the pericardial slice was folded to form a larger prosthetic valve pocket, which was sutured with the widened pericardial slice. Results There was no death after operation. After 6 months of follow-up, the degree of pulmonary regurgitation was less than that of the control group by color ultrasound examination. Conclusion The width of artificial single valve is slightly larger than the width of pulmonary valve annulus, so that the valve slice is not too large and causes stenosis, and the area is sufficient, which can better play the role of anti-regurgitation.

Objective to investigate the effects of neoadjuvant chemotherapy on the expression of estrogen receptor (ER), progesterone receptor (PR), P53 and CerbB-2 in breast cancer tissues. Methods A total of 123 patients with breast cancer who underwent surgery from January 2003 to December 2005 were studied. The expression of ER, PR, P53 and CerbB-2 in preoperative ejected hollow core needle biopsy samples and postoperative gross samples were analyzed. Results The positive expression rate of ER before neoadjuvant chemotherapy was 46.61% (55/118), and the positive expression rate of ER after chemotherapy was 66.10% (78/118). The difference between the two patients was statistically significant (P<0.05). There was no significant change in the expression of PR, P53 and CerbB-2 before and after neoadjuvant chemotherapy (P>0.05). Conclusion Neoadjuvant chemotherapy can change the expression of ER in some breast cancer tissues, but it has no effect on the expression of PR, P53 and CerbB-2.

Objective to investigate the significance of heart rate oscillation (HRT) after atrial premature beats (AF) in evaluating the transient changes of autonomic nerve before the onset of paroxysmal atrial fibrillation. Methods A total of 56 patients with paroxysmal atrial fibrillation confirmed by 24-h dynamic electrocardiogram were decompressed and scanned by flash card, and the onset time of atrial fibrillation was recorded. (1) The changes of atrial premature HRT were analyzed in 3 periods of the day: in the morning (6~10 o'clock), in the afternoon (13~17 o'clock) and at night (24~4 o'clock). The values of heart rate oscillation indexes: initial oscillation (TOA) and slope of oscillation (TSA) were calculated in each period. (2) The changes of HRT indexes TOA and TSA and heart rate variability indexes: standard deviation of mean normal RR interval (SDNN), low frequency component (LF), high frequency component (HF) and low frequency/high frequency ratio (LF/HF) were compared before and after the onset of paroxysmal atrial fibrillation. Results (1) The TOA and TSA were significantly increased 1 h before the onset of atrial fibrillation, (0.47 ± 0.32) % vs (0.24 ± 0.32) % Conclusions (1) It is suggested that atrial early morning may cause the loss of vagal nerve inhibition response, or even transient vagal nerve excitability enhancement, which may lead to the onset of atrial fibrillation. (2) The use of HRT after atrial early morning to evaluate the changes of autonomic nerve before the onset of paroxysmal atrial fibrillation may be better than the heart rate variability in the case of more ectopic beats before the onset of PAF, which has certain clinical significance.

Objective to investigate the value of plasma endothelin-1 (ET-1) and vascular endothelial growth factor (VEGF) in different clinical classifications of diabetic retinopathy (DR) and their correlation with the course of DR. Methods A prospective investigation was conducted. The peripheral plasma ET-1 and VEGF were measured in 96 patients with retinopathy (case group) and 144 patients without retinopathy (control group) in type 2 diabetic patients. The results showed that the difference of plasma ET-1 was statistically significant (F =12.186, P<0.01) among different clinical types of DR (mild nonproliferative DR (NPDR), moderate and severe NPDR and proliferative DR (PDR) groups (178 ± 24), (197 ± 51) and (231 ± 77) ng/L), while the difference between peripheral blood VEGF groups (31 ± 10), (31 ± 8) and (32 ± 10) ng/L, respectively) was not statistically significant (F =1.329, P<0.05). Compared with the clinical types of DR, plasma ET-1 and disease course were positively correlated (r =0.504, 0.291, all P<0.01), and peripheral blood VEGF was negatively correlated (r = -0.252, P<0.01). The ROC curve analysis of different clinical types of DR showed that plasma ET-1 was above the chance diagonal, while peripheral blood VEGF curves were below the chance diagonal. The area under the mild NPDR curve of plasma ET-1 was 0.742, moderate and severe Conclusion the detection value of peripheral plasma ET-1 in different clinical types of DR is significantly better than that of VEGF, which is of great significance for determining the high-risk population of DR and predicting the severity of the disease. The concentration of peripheral blood VEGF may not be consistent with the expression of VEGF in the eye. The onset and condition of DR aggravate with the prolongation of DM.

Objective to investigate the feasibility and efficacy of liver transplantation in the treatment of liver failure with blood group incompatibility. Methods the clinical data of 66 patients with liver transplantation in our center, including 21 patients with blood group incompatibility, were retrospectively analyzed, including the scores of end-stage liver disease model (MELD), survival rate and the incidence of major complications. Results the MELD scores of recipients in the same blood group and the blood group incompatibility group were 31.7±3.2 and 32.8±2.9, respectively, with no significant difference (P =0.154). The mean survival time of the two groups was (806.0±70.0) d and (720.3±118.5) d, respectively. The survival rates at 3 months, 1 year, 2 years and 3 years were 84.2%, 77.4%, 67.6%, 60.1% and 75.6%, 64.0%, 58.2% and 58.2%, respectively. There was no significant difference in cumulative survival rate between the two groups (P =0.417). The incidence of acute rejection was 8.9% (4/45) and 19.0% (4/21), respectively, with no significant difference (P =0.253). Liver transplantation with different ABO blood groups is an effective means to treat liver failure. Infection and renal failure are the main causes of death during perioperative period. Rational immunosuppressive therapy, effective infection control and strengthening perioperative management are the keys to improve the success rate of liver transplantation with incompatible blood groups.

Objective to investigate the incidence of undiagnosed diabetes mellitus in patients with coronary heart disease, the control of risk factors for coronary heart disease and the long-term prognosis of these patients after revascularization. Methods The case data of patients with complete data in DESIRE database were selected and analyzed to understand the clinical characteristics, target organ damage, risk factors control and long-term prognosis of patients. Results Among 3763 patients with coronary heart disease after revascularization registered in DESIRE, 3683 patients had complete data, and 1746 (47.4%) had abnormal glucose metabolism. Among them, 721 (19.6%) patients had been diagnosed with diabetes mellitus at the time of admission, and 303 (10.2%) patients with no history of diabetes mellitus had blood glucose level higher than the diagnostic criteria for diabetes mellitus at the time of admission, 722 (24.4%) patients had impaired fasting blood glucose, and 1937 patients had normal blood glucose. The risk factors of coronary heart disease were poorly controlled in patients with undiagnosed diabetes mellitus at the time of admission, with systolic blood pressure ≥140 mm Hg (46.2%), low density lipoprotein cholesterol ≥2.6 mmol/L (59.4%), current smokers (48.8%), All of them were significantly higher than those in the other three groups (P values were 0.05, 0.0001 and 0.0001, respectively). In the undiagnosed diabetic patients with 3-vessel disease, 41.6% were followed up for (30.0±12.1) months, the total mortality rate of undiagnosed diabetic patients (5.7%) was significantly higher than that in the diabetic group (4.3%) and non-diabetic patients (P =0.01), and the incidence of major cardiovascular and cerebrovascular adverse events (13.9%) was close to that in the diagnosed diabetic patients (14.3%), significantly higher than that in the non-diabetic patients (P =0.01). Conclusion The incidence of diabetes mellitus is high in patients with coronary heart disease, and one third of them are missed. These undiagnosed diabetic patients have severe target organ damage and risk factors control

Objective to compare the psychological process of Chinese character calculation between normal children and children with cognitive impairment.Methods 20 normal children were divided into 8-year-old group and 11-year-old group.Cognitive impairment was divided into ADHD group (30 cases, mean age 9.1 years) and epilepsy group (23 cases, mean age 10.9 years). Single Chinese character semantic initiation and calculation module stimulation were used. Event-related potentials (ERP) were extracted by BESA software for comparison and analysis.Results (1) Chinese character ERP: The amplitude of N2 (12.1 μ V, 11.7 μ V) of unrelated and false characters in normal children 8-year-old group was significantly higher than that in 11-year-old group (3.7 μ V and 4.8 μ V), and the difference was statistically significant (P<0.05). The amplitude of P2 (2.6 μ V and 4.3 μ V) and unrelated N2 (6.1 μ V) of unrelated and false characters in ADHD Chinese character group was significantly lower than that in normal control group, and the difference was statistically significant (P<0.05). (2) Calculation of ERP: incubation period addition of P2 and P3 in 8-year-old group (215 ms, 746 ms); Subtraction (207 ms, 692 ms); The multiplication (216 ms and 679 ms) were longer than those in the 11-year-old group, and the differences were statistically significant (all P>0.05). The P3 incubation period of each lead in children with epilepsy was significantly longer than that in the normal control group, and the differences were statistically significant (all P>0.05). Conclusion Chinese characters and computational cognitive waveforms are stable, and ERP can be used as an objective index to evaluate the cognition of normal children. The combination of basic research and clinical research can provide quantitative basis for diagnosis and treatment of children with cognitive impairment and learning impairment, and provide help for early diagnosis and intervention of children.

Objective to investigate the regulatory effect of diammonium glycyrrhizinate (Ganlixin) on the shift of helper T cells (Th) 1/Th2 in bronchial asthma. Methods Rats were randomly divided into normal control group, asthma model group, Ganlixin group and dexamethasone group. The model was established by tracing the respiratory curve, pathological sections of lung tissues and detecting the serum IgE level by ELISA. Interferon-γ (IFN-γ) was detected by L929-VSV system at the same time, and the level of interleukin-4 (IL-4) was detected by ELISA. Results The amplitude of respiratory curve of rats in asthma model group was (0.14±0.01) mV, and the frequency increased rapidly. The pathological sections of lung tissues showed a large number of inflammatory cell infiltration in bronchial submucosa, goblet cell proliferation, bronchial mucosal rupture, thickening of submucosal muscle layer, and the level of IL-4 in induced supernatant was (305±36) pg and IFN-γ was (1.6±0.4) U. The levels of IL-4 (168±10) pg and IFN-γ (18.7±5.5) U in the Ganlixin treatment group; Conclusion Th1/Th2 deviation exists in asthmatic model rats, and the increase of IFN-γ by Ganlixin may promote the polarization of Th1.

Objective to investigate the effect of platelet-derived growth factor (PDGF) on the adhesion between vascular smooth muscle cells (VSMC) and human mononuclear cell line (THP-1) and the possible molecular mechanism.Methods Cultured rat aortic vascular smooth muscle cells were stimulated with 2.5, 5, 10 and 20 ng/ml PDGF for different times, respectively.After the culture medium without or containing monoclonal antibody to integrin β 1, PKH26-labeled THP-1 cells were co-cultured with VSMC, and the number of adhering THP-1 cells was determined.The effect of PDGF on the expression of integrin β 1 in VSMC was detected by Western immunoblotting method.Results The effect of PDGF stimulating SMC on the adhesion of THP-1 to VSMC increased with the increase of concentration, and the adhesion of THP-1 to vascular smooth muscle cells was 1.1, 2.1, 3.1 and 4.4 times that of control group; Under the stimulation of 10 ng/ml PDGF, the number of adherent THP-1 cells was 3.1 times that of the control group (135±47 cells/visual field vs 43±14 cells/visual field, P<0.001); Integrin β 1 monoclonal antibody can significantly inhibit the adhesion of PDGF-stimulated THP-1 cells to VSMC, and the number of adhering cells (54±13 cells/field, P<0.01). The effect of PDGF on promoting the adhesion of THP-1 to VSMC reached its peak at 8 h after PDGF stimulation. Immunoblotting showed that PDGF can induce the expression of integrin β 1 in VSMC, which reached its peak at about 8 h. Conclusion Platelet-derived growth factor can promote the adhesion of monocytes to vascular smooth muscle cells in a dose-dependent and time-dependent manner, which is partly mediated by integrin β 1, and this effect may have important significance in the pathogenesis of atherosclerosis.

Objective to investigate the effects of transfection of recombinant adeno-associated virus (AAV) containing NgRDN in rat retinal ganglion cells (RGC) on optic nerve regeneration after injury, and to observe the relationship between it and lens injury and macrophage activation. Methods Forty-five Wistar rats were randomly divided into three groups: Group A was injected with AAV-EGFP carrying green fluorescent protein (EGFP) in vitreous body, Group B was injected with AAV-NgR-EGFP in vitreous body, Group C was injected with AAV-NgRDN-EGFP in vitreous body, and the titers of the three viruses were 5×1011v.g/ml. Each group was divided into three subgroups, 5 rats in each subgroup, Group 1 was injected with rAAV in vitreous body, Group 2 was injected with rAAV + lens injury group, Group 3 was injected with rAAV + yeast polysaccharide group. The optic nerve was pinched 3 weeks after injection of rAAV in vitreous body, and the right retina was grafted 4 days after pinching, and the axis of the retinal implant edge was detected by β Ⅲ tubulin staining Optic nerve growth-associated protein (GAP) -43 staining was performed 2 weeks after pinch injury to observe the axon regeneration of optic nerve. Results β Ⅲ-tubulin staining of retinal grafts showed that AAV-NgR-EGFP and AAV-NgRDN-EGFP had no effect on axon regeneration of RGC under the condition of myelin-free culture; However, under the conditions of myelin-containing culture, that is, the number and length of axon regeneration in group B were lower than those in group A (both P<0.01). There was no statistically significant difference between group C1 and group A1, the number and length of axon regeneration in group C2 and group C3 were higher than those in group A2 and group A3, respectively, and the number and length of axon regeneration in group C2 (317 ± 45, 508 μ m ± 44 μ m) were higher than those in group C3 (238 ± 30, 365 μ m ± 48 μ m, both P<0.01). Optic nerve GAP-43 staining showed that axon regeneration in group B was significantly lower than that in group A, there was no statistically significant difference between axon regeneration in group C1 and group A1, while axon regeneration in group C2 and group C3 was significantly higher than that in group A2 and group A3. Conclusion Intravitreal transfection of AAV-NgRDN-EGFP can promote axon regeneration in optic nerve while activating RGC, and NgRDN can effectively antagonize the effect of NgR.

Objective to construct the hyaluronidase gene (hyl) mutant strain of Enterococcus faecium and study the function of hyl gene.Methods the mutant strain of hyl gene was obtained by homologous recombination with suicide plasmid pTX4577 in vitro, and the effect of hyl gene deletion on the growth ability of the mutant strain in vitro was studied. The virulence of the mutant strain in vivo was studied by mouse peritonitis and rabbit endocarditis models. Results the mutant strain of hyl gene was obtained by homologous recombination, kanamycin resistance screening, PCR, pulsed field electrophoresis and Southern blotting. The growth ability of the mutant strain in vitro was lower than that of the wild strain. In the mouse peritonitis model, the survival rate of wild strain TX2466 group was 0, while that of *hyl group was 50% within 100 h at the same bacterial infection concentration (3.7×109 CFU/ml), the difference was statistically significant (P<0.01). In the rabbit endocarditis model, the colony counts of aortic valve and parietal neoplasms in TX2466 group were (3.04 ± 0.63) ×106 CFU/g and (6.87 ± 0.63) hyl gene plays an important role in the pathogenesis of Enterococcus faecium, and may be one of the virulence factors of Enterococcus faecium.

In recent years, with the rapid development of interventional techniques, the treatment of many cardiovascular diseases, especially the treatment of congenital heart disease (CHD), has shifted from simple surgical treatment to the combination of surgical and interventional treatment. This new treatment mode of combining interventional therapy and surgical therapy is called hybrid therapy. This new treatment mode can alleviate the trauma of secondary surgery, make up for the shortcomings of surgery, and show unique advantages, especially in the treatment of complex CHD. Doppler echocardiography plays an important role in mosaic therapy, especially in CHD mosaic therapy. This paper reviews the role of mosaic therapy and intraoperative ultrasound in CHD.

Sensorineural deafness has seriously affected human health and quality of life, and there is still no definite and effective treatment at present. With the development of genetic engineering technology, gene therapy has brought new hope for overcoming this stubborn disease. Gene therapy refers to a treatment method in which external normal or therapeutic genes are transferred to human target cells through vectors, gene modification and expression are carried out, so as to improve the disease. In 1996, gene therapy technology was first applied to the treatment of deafness, and it has developed rapidly in more than 10 years. We summarize the commonly used vectors for gene therapy of sensorineural deafness, commonly used exogenous genes and the ways of introducing vectors into the inner ear as follows.

At present, deafness has become a serious social problem, which brings a lot of inconvenience to the life and work of patients. More and more experts and scholars in related fields devote themselves to its treatment. Glucocorticoids are a kind of steroidal anti-inflammatory drugs secreted by the adrenal cortex, which are widely used in clinic because of their remarkable anti-inflammatory effects [1]. Its action sites involve many tissues and organs of the body, and the inner ear is one of them.

There has been a long history of controversy about whether crystalline resuscitation or colloidal resuscitation is superior or inferior, and scholars from various countries have also carried out a series of corresponding studies. In 2004, the famous SAFE study concluded that there is no statistically significant difference in mortality of ICU patients resuscitated by both resuscitation (N Engl J Med, 2004, 350: 2247-2256).

Retracted testis means that the testis were located in the scrotum at or after birth, and then retracted to the upper part of the scrotum and the groin. Sometimes it is difficult to differentiate and diagnose cryptorchidism, and it is often treated as cryptorchidism. From October 2003 to December 2005, 3 cases of retracted testis were treated in our department, and the summary report is as follows.

A 13-year-old male was admitted to the hospital in May 2006 due to fever for 1 week. Physical examination showed that the body temperature was 38.2℃, the appearance of severe anemia, the superficial lymph nodes were not palpable and swollen, the pharynx was congested, the sternum was not tender, the heart and lung were not abnormal, and the liver, spleen and subcostal were not palpable.

A 78-year-old male was admitted to the hospital due to weight loss, fatigue, skin nodules for half a year, accompanied by cough for half a month.Six months ago, he began to develop general weakness without obvious inducement, progressive weight loss, weight loss of about 5 kg, subcutaneous nodules with itching on the skin of the head, face and limbs, and mild cough and sputum in the past half a month.