Objective To investigate the prevalence and spectrum of β-thalassemia mutations in C, uangdong province, and provide a reference for prenatal diagnosis and genetic counseling in this population. Methods Three thousand two hundred and forty-seven blood samples were randomly selected from Guangzhou and 2984 blood samples from Shenzhen from January in 2005 to January in 2009. PCR and reverse dot blot hybridization (RDB) were adopted for detection of β-thalassemia mutations in Guangzhou and Shenzhen city. Results Seven hundred and fifty-one individuals in Guangzhou were found to have β-hemoglobin gene mutations, the detection rate was 23.13%(751/3247); 10 different mutations were identified, namely CD41-42(-TCTT), IVS-Ⅱ-654(C→T), -28(A→G), CDI7(A→T), CD71-72(+A), 13E, IVS-I-1(G→T), CD43(G→T), -29(A→G), CDI4-15(+G), which accounted for 42.53% (336/790) ,25.19% (199/790), 12.66% (100/790), 10.89% (86/790) ,3.29% (26/790), 2.15%(17/790), 1.27%( 10/790), 1.14%(9/790) ,0.51%(4/790) ,0.38%(3/790), respectively; the most common mutation was CD41-42(-TCTT), which accounted for 42.53%(336/790). In Shenzhen, 179 individuals were found to have β-thalassemia mutations, the detection rate was 6.00% (179/2984); 8 different mutations were identified excluding CD43 (G→T) and CD14-15 (+G); the most common mutation, however, was IVS-lI--654(C→T), which accounted for 40.44% (74/183). Conclusions The β-thalassemia mutations in Guangdong province are not only frequent, but also obviously heterogeneous, and the mutations differ from region to region. CD41-42 (-TCTT),ⅣS-Ⅱ-654(C→T), -28(A→G), CD17(A→T) were the 4 predominant mutations.

Objective - （ ） To explore the influence on the diagnosis of occupational noise induced deafness ONID using three ， Methods versions of diagnostic criteria in 2002 2007 and 2014. A total of 1 766 workers who asked for ONID diagnosis were selected as the research subjects using judgment sampling method. The results of pure tone audiometry were collected. GBZ 49-2002Diagnostic Criteria of Occupational Noise-inducedHearing Loss（ The ONID was diagnosed using hereinafter referred to as GBZ 49-2002），GBZ 49-2007Diagnostic Criteria of Occupational Noise-induced Deafness（ GBZ 49-2007） hereinafter referred to as GBZ 49-2014 Diagnostic of Occupational Noise-induced Deafness（ GBZ 49-2014）， and hereinafter referred to as and the Results - - ， - diagnostic results were compared. Compared with GBZ 49 2002 and GBZ 49 2007 diagnosis with GBZ 49 2014 had （ vs ， vs ， P ）， （ vs ， a higher rate of ONID 57.9% 66.0% 44.8% 66.0% both <0.01 and had a higher rate of mild ONID 47.3% 54.6% vs ， P ） - - 36.0% 54.6% both <0.01 . The diagnostic rate for ONID using GBZ 492014 was higher than those using GBZ 49 2002 and - （ P ）Conclusion - GBZ 49 2007 in each age groups all <0.01 . GBZ 49 2014 improved the diagnostic rate of ONID compared - - with GBZ 49 2002 and GBZ 49 2007. The reason is related to the inclusion of 4 000 Hz hearing threshold with a weight of 0.1 - as the diagnostic hearing threshold and the use of a new age and gender correction method in GBZ 49 2014.

Objective To explore a more reasonable and effective therapeutic regimen and evaluate prognostic factors in hepatoblastoma patients after combined therapy.Methods Sixteen patients diagnosed on hepatoblastoma between Jan.2000 and Nov.2007 were reviewed and followed-up.Resection with chemotherapy was taken among 16 cases.Chemotherapy included pre-operation and post-operation.Five cases were cured by transcatheter arterial chemombolization(TACE).Six cases were cured by single chemotherapy(both TACE and single chemotherapy were taken in 2 cases).Five cases weren't cured by pre-operation chemotherapy.Nine cases were subjected to curative resection,3 cases to alleviative resection,2 cases with single chemotherapy,1 case with single TACE,and 1 case refused operation and left hospital.Their mean survival duration was 13.5 months(3-98 months).SPSS 13.0 software was used to analyze the data.Results The total survival rate of cases as stage Ⅳ as lower than cases as stage Ⅰ,Ⅱand Ⅲ.Both alpha-fetoprotein(AFP)100 000 ?g/L cases had worse survival rate.The prognosis of mixed type was better than fetal type,embryonal type and anaplasia type.The survival rate of cases with standard chemotherapy was higher than cases with unstandard chemotherapy.And the surgical resection cases had better survival chance than non-surgical resection cases.The survival rate of surgical residual cases was worse than non-surgical residual cases.Conclusions Chemotherapy can improve the total survival rate and long-term survival rate of hepatoblastoma patients.TACE is a safe and effective choice for hepatoblastoma patients.We need to be alert and make the diagnosis as early as possibe,and treat it early and properly.

Objective To investigate the relationship between the number of colonies and the luminous intensity of two kinds of platelets contamination bacteria,Escherichia coli(ECO)and Pseudomonas aeruginosa(PAE)in single platelets, plasma and phosphate buffered salines(PBS), and to explore their growth and proliferation in different biological fluid media.Methods The two luminescent bacteria were constructed before the correlations between the number of colonies and the luminous intensity in different media in vitro were observed with a small animal bioluminescence imaging instrument, and correlation analysis was carried out.By recording the luminous intensity at serial time points in different media, a growth curve was drown to reflect the proliferation of bacteria.Results There was a significant positive correlation between the number of colonies and luminous intensity of ECO and PAE in single platelets,plasma and PBS.The larger the number of colonies was,the stronger the luminous intensity was.The results indicated that single platelets significantly inhibited the proliferation of ECO and PAE,and that plasma also had some inhibitory effect,but not so strong.Conclusion For the two luminous bacteria,luminous intensity can represent the growth and proliferation of bacteria.Single platelets have obvious inhibitory effect on the growth of ECO and PAE, and the plasma also has some inhibitory effect, but the effect is not so strong as that of single platelets.

Objective To present a preliminary latest procedure for portal hypertension and evaluate the technical feasibility and efficacy of portacaval shunt creation through the percutaneous transhepatic approach in order to make a hemodynamic comparison with that of the classic TIPS.Methods Thirty-eight patients with portal hypertension(36 men;mean age 57 years,range 32～73)were referred for PTPS procedure because of bleeding varices(n=36),intractable ascites(n=1),and hepatopulmonary syndrome(n=1).The severity of liver disease was classified as Child-Pugh B in 27 and C in 11.The PTPS was created by a percutaneous transhepatic puncture into right portal vein and then through left portal vein to the hepatic segment of IVC followed by a prefabrication stress stent-graft placement at the very site.Results Technical and functional success of 100% was achieved in all patients,without related complications.The postprocedural portal vein-IVC gradients mean 13 cmH_2O was achieved with the follow-up period mean 493 days.No recurrence of variceal bleeding and controlled refractory ascites were achieved,and still more with primary patency rate of the involved vascular structure up to 94.8% at 365 days,much better than classic TIPS. Conclusions Portacaval shunt creation using the prefabrication stress stent via percutaneous transhepatic technique is safe and feasible.The compact coincidence was obtained between the stent and the involved vessel with restoration of intrahepatic portal venous bemodynamics together with partial lowering of portal venous pressure and guaranteeing intrahepatic perfusion through right portal vein.It is also obviously to have postoperative prevention of shunt restenoses and lowering postoperative incidence of hepato-encephalopathy.

OBJECTIVE: To investigate the effect of NBI assisted white light transurethral resection of bladder tumor (TURBT) in the treatment of bladder urothelial carcinoma and to summarize the experience of narrow band imaging (NBI) operation. METHODS: Patients with bladder urothelial carcinoma were selected, and TURBT was performed after anesthesia. First of all, the bladder tumor was found and resected under white light. Then we replaced with NBI, looked for suspicious lesions and resected them, The specimens excised under white light and NBI were collected separately. The number, location and pathological results of the lesions under white light were recorded, and the residual lesions under NBI were also recorded. To evaluate the effect of NBI, the ratio of residual bladder tumor was calculated. The cases were divided into three groups according to the time sequence. The clinical data of each group were collected and the learning curve of TURBT under NBI assisted white light was observed. RESULTS: A prospective study of 45 patients with bladder tumor from April 2018 to January 2020, including 32 males and 13 females, aged from 23 to 89 years, with an average age of 65.2 years. All the operations were successfully completed, without obvious complications after operation. Nine cases were single and 36 cases were multiple. The maximum diameter of the tumors was 0.5 to 4.0 cm, with an average of 2.2 cm. The histopathology of the resected tissue under white light was urothelial carcinoma, and 19 cases (42.2%) were pathologically positive by NBI resection. The 45 cases were divided into three groups according to the time sequence, 15 cases in each group. The true positive rate of NBI was 33.3%, 46.7% and 46.7%, respectively, and the false positive rate was 60.0%, 46.7% and 26.7%, respectively in the three groups. CONCLUSION TURBT is an effective way to treat bladder urothelial cancer, NBI is an effective supplement of white light, which can increase the detection rate of bladder cancer and reduce post-operative recurrence. The NBI light source has a certain learning curve. With the increase of cases, the false-positive rate of NBI is gradually reduced. After the NBI operator has rich experience, the recognition degree of flat tumor is gradually improved under white light, and the residual rate of NBI is reduced after the removal under white light.
Adult ; Aged ; Aged, 80 and over ; Cystoscopy ; Female ; Humans ; Male ; Middle Aged ; Narrow Band Imaging ; Neoplasm Recurrence, Local ; Prospective Studies ; Self-Control ; Urinary Bladder Neoplasms/surgery* ; Young Adult

OBJECTIVETo evaluate the value of C-reactive protein (CRP) to diagnostic test in elderly patients with infections.

METHODSC-reactive protein were investigated in 142 elderly patients with infections and 216 elderly patients without. CRP 7 - 20, 21 - 40 and 41 - 60 mg/L were stratified, the index of diagnostic test counted.

RESULTSConcentrations of CRP in patients with different diseases were upper respiratory tract infection 36.9 mg/L +/- 28.9 mg/L, acute bronchitis 30.1 mg/L +/- 28.1 mg/L, pneumonia 55.9 mg/L +/- 32.9 mg/L, urinary infection 49.0 mg/L +/- 27.6 mg/L and enteritis 39.3 mg/L +/- 35.6 mg/L. They were all higher than those in control group (5.2 mg/L +/- 2.9 mg/L, P < 0.001). Stratified analysis disclosed that the specificity of CRP was 83.3% - 99.0% for diagnostic infection disease. The positive likelihood ratio (LR) of 7 - 20, 21 - 40 and 41 - 60 mg/L were 3.6, 27.0 and 128.0, respectively.

CONCLUSIONC-reactive protein was an important marker to diagnose elderly patients with infections.

Aged ; Biomarkers ; analysis ; C-Reactive Protein ; analysis ; Diagnostic Tests, Routine ; Female ; Humans ; Male ; Middle Aged ; Pneumonia ; diagnosis ; Respiratory Tract Infections ; diagnosis ; Urinary Tract Infections ; diagnosis

Aim To investigated the effect of p-CA on depression-like behaviors of mice of olfactory bulbectomy and its possible mechanism. Methods The olfactory bulbectomy (OBX) model of mice was established by an operation of olfactory bulbectomy. The behaviors of the mice were detected by the forced swimming test and the tail suspension test. Results The depression-like behavior in the forced swimming and tail suspension test and the in the open field test significantly increased in OBX mice; however, p-CA improved the depres- sion-like behavior in the forced swimming and tail sus pension test and the hyper-locomotor activity in open field test in OBX mice. Moreover, treatment with AMPA receptor antagonist NBQX blocked this improving effect of p-CA. While, treatment with AMPA receptor agonist CX546 enhanced this improving effect of p-CA. Conclusions P-CA improves depression-like behaviors of OBX mice, and AMPA receptors may mediate this effect.

OBJECTIVETo study the effect of qingxin kaiqiao formula and saponin on the learning and memory ability and the expression of the apoptosis signal transducers Abeta and betaAPP in AD rat brain.

METHODThe comparative observation method was adopted for the animal test. Forty male SD rats were randomly divided into five groups, namely the normal group, the model group, the aricept group, the qingxin kaiqiao formula group and the saponin group, with eight rats in each group. Abeta(25-35) (10 g x L(-1)) was injected into their bilateral amygdala to establish the AD rat model. Since the next day, they were intragastrically administered with Aricept (1.67 mg x kg(-1)), Qingxin Kaiqiao decoction (12.67 mL x kg(-1)), saponin (6.30 mg x kg(-1)) and double distilled water filling for 2 weeks to observe their spatial memory ability in a Morris water maze and study the expression of Caspase-3, Abeta and betaAPP in brain tissues by immunohistochemistry.

RESULTEach traditional Chinese medicine groups showed significant improvement in the learning and memory ability of AD rats and notable differences (P < 0.05, P < 0.01) compared with the control group. The qingxin kaiqiao formula group and the saponin group showed a decrease in the expressions of Caspase-3, Abeta and betaAPP in cerebral cortex and hippocampus area, displaying notable differences (P < 0.01, P < 0.05) compared with the control group.

CONCLUSIONqingxin kaiqiao formula and saponin can obviously improve the learning and memory ability of AD rats with by decreasing the expression of Caspase-3, Abeta and betaAPP in cortex and hippocampus.

Alzheimer Disease ; drug therapy ; genetics ; Amyloid beta-Peptides ; genetics ; Animals ; Apoptosis ; drug effects ; Caspase 3 ; metabolism ; Cerebral Cortex ; drug effects ; metabolism ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; pharmacology ; Hippocampus ; drug effects ; metabolism ; Learning ; drug effects ; Male ; Maze Learning ; drug effects ; Memory ; drug effects ; Rats ; Rats, Sprague-Dawley ; Saponins ; administration & dosage ; pharmacology ; Time Factors

The aim of this study was to investigate the polymorphism of microsatellite repeats DXS15, CA13, CA22 tightly linked to FVIII gene in Guangdong population and its practical value in genetic diagnosis for hemophilia A. The polymerase chain reaction (PCR) and capillary electrophoresis (CE) methods were adopted to test the variability of the 3 microsatellite repeat in Guangdong females, including 111 females, 222 X chromosomes for detecting DXS15 polymorphism; 87 females, 174X chromosomes for detecting CA13 polymorphism; 94 females, 188 X chromosomes for detecting CA22 polymorphism. The results indicated that 11 alleles corresponding to DXS15 were found at this locus with size ranging from 140 to 160 bp. The polymorphism information content (PIC) of this microsatellite repeat was 0.82, heterozygosity was 82%. Six alleles corresponding to CA13 were found, with a size from 145 to 155 bp, and PIC was 0.56, heterozygosity was 56.2%. Four alleles corresponding to CA22 were found with size ranging from 79 to 85 bp, and PIC was 0.41, heterozygosity was 50%. It is concluded that in contrast to the information about Caucasian, the polymorphism of these 3 microsatellites differs from race to race, and region to region. DXS15, CA13 and CA22 are highly polymorphic genetic markers useful for linkage analysis of haemophilia A, which may play a vital role in detection and prenatal diagnosis for hemophilia A.
Asian Continental Ancestry Group ; genetics ; DNA ; analysis ; Factor VIII ; genetics ; Female ; Hemophilia A ; genetics ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic ; Tandem Repeat Sequences