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Objective:To study the clinical characteristics of neonatal gastric perforation (NGP) and risk factors of mortality.Methods:From January, 2015 to December, 2021, clinical manifestations of neonates diagnosed with NGP in the Department of Neonatology and Neonatal Surgical Intensive Care Unit of our hospital were retrospectively analyzed. Neonates were assigned into the survival group and the death group according to their prognosis. Risk factors of mortality were analyzed using multivariate logistic regression method.Results:A total of 50 cases were enrolled, including 41 in the survival group and 9 in the death group. 38 cases were males, 34 were premature infants, 30 were low birth weight infants and 5 had history of asphyxia. The clinical manifestations included abdominal distension, tachypnea, cyanosis, poor response, fever, diminished bowel sound and redness of the abdominal wall. Abdominal X-ray indicated pneumoperitoneum. Laboratory abnormalities included leukocytosis, thrombocytopenia, elevated C-reactive protein and procalcitonin, decreased blood pH and increased lactic acid. 30 cases had perforation at the greater curvature of stomach. Perforation was larger than 3 cm in 40 cases and intestinal necrosis was identified in 14 cases. Some patients suffered from sepsis, respiratory failure, pulmonary hemorrhage, shock, coagulopathy and other related complications. The death group had significantly higher incidences of dyspnea, fever, elevated procalcitonin, blood pH<7.3, intestinal necrosis, time from onset of clinical manifestations to operation (Tm-o) >24 h and complications than the survival group ( P<0.05). Multivariate logistic regression analysis showed that pH<7.3 ( OR=9.755, 95% CI 1.363-69.800), Tm-o>24 h (OR=11.831, 95%CI 1.305-107.301), septic shock and sepsis ( OR=29.622, 95% CI 3.728-235.369) were risk factors of mortality. Conclusions:The main manifestations of NGP are abdominal distension and pneumoperitoneum. The risk factors of mortality in NGP are sepsis, blood pH<7.3 and Tm-o>24 h.
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Decoction is one of the traditional dosage forms of traditional Chinese medicines (TCMs). In addition to small molecular components, decoction also contains polysaccharides and other macromolecular components. For a long time, ethanol precipitation has been commonly used during TCMs based new drug development to remove "ineffective macromolecular components", and enrich "active small molecules components", so as to improve the subsequent formability of the preparations. With the recognition of the relationships between gut microbiota and host health/disease, and the potential prebiotic effects of natural polysaccharides, the important values of polysaccharides in TCMs decoctions have been gradually emerged. Based on the representative findings of our own research and the literatures, the potential prebiotics function of TCMs polysaccharides were reviewed regarding its related effects on host physiological and pathological processes of metabolic function, bowel function, immunity, inflammation, emotion and tumor, on the metabolism and absorption of coexisting small molecule components, as well as the structure-function features, so that the meanings of polysaccharides in TCMs decoction were discussed and emphasized, and hopefully to provide enlightenment for the premise of attaching importance to the existence of polysaccharide components in the process of innovative drug research and development based on classical and clinical TCMs prescriptions.
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Objective@#To evaluate the effect of height (HT), total body weight (TBW), body mass index (BMI), lean body weight (LBW), body surface area (BSA) and blood volume (BV) on aortic and liver contrast enhancement during upper abdominal contrast-enhanced CT scans.@*Methods@#One hundred and thirteen enrolled patients underwent upper abdominal multiphase contrast-enhanced CT scans. The enhancement (ΔHU) of aorta in hepatic arterial phase and liver parenchyma in portal venous phase were measured and calculated. The ΔHU values difference of aorta and liver parenchyma in subgroups between males and females, TBW<60 kg and TBW≥60 kg, BMI<25 kg/m2 and BMI≥25 kg/m2 were compared. To evaluate the effect of the patient′s body parameters on aortic and hepatic enhancement, we performed simple linear regression analyses between the change in CT numbers per gram of iodine (ΔHU/gI) at aorta and liver and each of the following: HT, TBW, BMI, LBW, BSA, and BV. Pearson and t test were used.@*Results@#The mean ΔHU values of aorta and liver were significantly lower at males than that of at females (P<0.05). They were higher at TBW<60 kg patients than at TBW≥60 kg patients(P<0.05), and the mean ΔHU values of the liver at BMI<25 kg/m2 patients were significantly higher than at BMI≥25 kg/m2 patients(P<0.05). The proportion of the ΔHU values at liver less than 50 HU was higher at males (18.3%, 11/60) than at females (7.5%, 4/53). The most obvious negative correlation coefficients were found between the ΔHU/gI of aorta and LBW at hepatic arterial phase (r=-0.559, P<0.01), and between the ΔHU/gI of liver and BSA at portal venous phase (r=-0.680, P<0.01).@*Conclusion@#LBW or BSA could be the alternative body index to TBW for the calculation of personalized iodine dose protocol at aortic and liver enhanced CT scans.
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Objective:To evaluate the effect of height (HT), total body weight (TBW), body mass index (BMI), lean body weight (LBW), body surface area (BSA) and blood volume (BV) on aortic and liver contrast enhancement during upper abdominal contrast-enhanced CT scans.Methods:One hundred and thirteen enrolled patients underwent upper abdominal multiphase contrast-enhanced CT scans. The enhancement (ΔHU) of aorta in hepatic arterial phase and liver parenchyma in portal venous phase were measured and calculated. The ΔHU values difference of aorta and liver parenchyma in subgroups between males and females, TBW<60 kg and TBW≥60 kg, BMI<25 kg/m 2 and BMI≥25 kg/m 2 were compared. To evaluate the effect of the patient′s body parameters on aortic and hepatic enhancement, we performed simple linear regression analyses between the change in CT numbers per gram of iodine (ΔHU/gI) at aorta and liver and each of the following: HT, TBW, BMI, LBW, BSA, and BV. Pearson and t test were used. Results:The mean ΔHU values of aorta and liver were significantly lower at males than that of at females ( P<0.05). They were higher at TBW<60 kg patients than at TBW≥60 kg patients( P<0.05), and the mean ΔHU values of the liver at BMI<25 kg/m 2 patients were significantly higher than at BMI≥25 kg/m 2 patients( P<0.05). The proportion of the ΔHU values at liver less than 50 HU was higher at males (18.3%, 11/60) than at females (7.5%, 4/53). The most obvious negative correlation coefficients were found between the ΔHU/gI of aorta and LBW at hepatic arterial phase ( r=-0.559, P<0.01), and between the ΔHU/gI of liver and BSA at portal venous phase ( r=-0.680, P<0.01). Conclusion:LBW or BSA could be the alternative body index to TBW for the calculation of personalized iodine dose protocol at aortic and liver enhanced CT scans.
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The 5-hydroxytryptamine(5-HT) neurons in the dorsal raphe nucleus(DRN) project to a wide area of the brain and are associated with many physiological processes and the occurrence of mental disorders, such as sleep-arousal, anxiety, reward, depression, neuroplasticity, et al. . However, the mechanisms of there functions on 5-HT neurons are unclear. This article start from neural network and review the relative signaling pathway of 5-hydroxytryptamine neurons in anxiety, reward and drug addiction.
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Objective To explore the optimal body size index for the calculation of iodine contrast agent dose required for multiphase liver enhanced CT scans based on the total body weight (TBW),lean body weight (LBW)and body surface area (BSA).Methods Two hundred and twenty enrolled patients were randomly divided into three groups,TBW-group (n＝75),LBW-group (n＝72)and BSA-group (n＝73),and administrated iodine doses were 600 mg I/TBW(kg),780 mg I/LBW(kg)and 22 g I/BSA(m2 ),respectively.All patients had taken upper abdominal plain scans and triple-phase enhanced CT scans.The enhanced values (ΔHU)of the aorta at hepatic arterial phase (HAP),the portal vein and liver parenchyma at portal venous phase (PVP)were compared.The correlation coefficients of adjusted maximal hepatic enhancement(aMHE)with TBW,LBW and BSA in three groups were evaluated,respectively.Results There were no statistical differences in the ΔHU values of the aorta at HAP and the portal vein and liver parenchyma at PVP in the three groups respectively.The smallest variances of the aorta at HAP,the portal vein and liver parenchyma at PVP were found in the LBW group. The aMHE showed mildly positive correlation with TBW (r＝0.230)with a P value of 0.047,but it was consistent with LBW (r＝0.158)and BSA (r＝－0.1 54)with corresponding P values of 0.1 85 and 0.1 9 2 ,respectively.Conclusion Compared with TBW and BSA,iodine contrast agent dose calculated based on the patient’s LBW can improve the patient-to-patient uniformities on aorta,portal vein and liver enhancement during the liver multiphase enhanced CT scans.The LBW is the best body index for the calculation of iodine dose on liver enhanced CT scans.
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An ultra-performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF-MS/MS) method was developed to evaluate the chemical consistency of triterpene acids in ethanol extracts of Poria and acetic ether extracts thereof. First, high resolution mass spectrometry data were obtained with Full scan mode, by comparing with MS data from the reference compounds and literatures, a total of 23 components were unequivocally or tentatively identified in ethanol extracts and acetic ether extracts thereof. Then, a mimic multiple reaction monitoring (mMRM) mode was established using UPLC-QTOF-MS/MS to quantify the triterpene acids in ethanol extracts and acetic ether extracts thereof. Eleven components were absolutely quantified with reference compounds, while 12 components without reference compounds were relatively quantified with peak areas, the transfer and enrichment rate of triterpene acids during liquid-liquid extraction were calculated. It was found all of the 23 triterpene acids identified in Poria ethanol extracts could be transferred into acetic ether extracts with high transfer and enrichment rate. The present study provides not only scientific evidence for further extraction of triterpene acids in Poria by acetic ether, but also an approach for comprehensive evaluation of the chemical consistency of herbal medicine extracts before and after the liquid-liquid extraction.
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Objective:Both antibiotic resistant bacteria (ARBs) and antibiotic resistant genes (ARGs) are considered as one of the most dangerous environmental pollutants in the 21st century by the WHO. This study aims to understand the ARGs of Klebsiella pneumoniae (K. pneumoniae) with multiple drug resistance bacterium from the marine water collected from a beach at Sanya Bay, and to explore the antibiotic resistance mechanism of the K. pneumoniae, providing a basis for exploring the transfer of drug resistance genes of beach, and preventing and controlling the health risk of entertainment population.Methods:The sample of marine water were collected and screened by Mcconkey plate. The drug sensitive test was detected by Merieux VITEK2, The DNA was extracted and one strain of 16srDNA was sequenced and identified as K. pneumoniae. Whole-genome resequencing was performed using Illumina HiseqXten platform, and the obtained sequences were compared with NCBI blasting. The reference bacterium were multi-resistant K. pneumoniae HS11286. Plasmids were extracted and the resistant genes were identified.Results:The ARGs encoding protein was 117/4801 (identity > 40%) and the carrying rate was 2.436 9%. The identity of following ARGs of OKPB, sul1, rpoB, ef-tu, phoP, sul2, AAC(6’)-ib-cr, QnrB, floR, aadA16 were more than 99%. The strain showed resistance to ampicillin, ticacillin/clavulanic acid and chloramphenicol, and was intermediate to ampicillin/sulbactam, compound sulfamethoxazole, ciprofloxacin, minocycline. Preliminary positioning showed that Qnrs, sul1, tetA, cat, QacE were carried on plasmid.Conclusion:The multiple drug resistant bacteria strain has a variety of different resistant phenotypes, some ARGs can be easily spread by plasmid. It probably will bring exposure risk to people for entertainment. Sensibility of some antibiotics were on the brink of resistance, It is necessary to tracking corresponding antibiotics pollution and strengthening monitoring of ARBs and mobile resistant elements of bacteria.
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Objective:With the increasing attention to health influence by ecology environment and climate changes, it is important to explore the characters of drinking water quality and meteorological factors at tropical areas of South China. This study aims to study the water quality of municipal source water and to elucidate the relationship between water quality changes and climatic factors at Haikou.Methods:By analyzing the data of water quality indexes of source water in the past five years from July 2013 to April 2017, the representative indexes as following were analyzed: Fecal coliforms (FC), ammonia nitrogen (NH4Results:Only the CODConclusion:The source water has a higher concentration of iron. The temperature is an important factor that affects the local source water quality of Haikou. It is necessary to strengthen removing COD
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Objective:The transcription factor IIH (TFIIH) helicases XPB and XPD are responsible for opening the DNA strand around the lesion site and endonuclease XPG cleaves the damaged DNA strand on the 3’ side during nucleotide excision repair (NER). Polymorphisms in these three genes that affect DNA repair capacity may contribute to susceptibility of lung cancer. In this study, our objective is to conduct a case-control study of 100 Chinese patients with lung cancer and 100 cancer-free age and sex matched controls to analyse associations between these SNPs and lung cancer susceptibility.Methods:In this hospital-based case-control study, we genotyped 7 SNPs of XPB, XPD and XPG using matrix assisted laser desorption ionisation-time of flight mass spectrometry method (MALDI-TOF) to explore the association with lung cancer risk. To estimate the relative risk of lung cancer associated with SNP genotype, odds ratios (OR) and 95.0% confidence intervals (95.0% CI) were obtained from unconditional multinomial logistic regression models without and with adjustment for potential confounders including age, gender, cigarette smoking and alcohol consumption.Results:The results showed that individuals carrying XPB rs4150434 GA or AA genotype (OR per GA genotype, 1.997; 95.0% CI: 1.031-3.871; P=0.039; OR per AA genotype, 2.435; 95.0% CI: 1.037-5.718; P=0.037), and this association was also find in nondrinkers (OR per GA genotype, 2.477; 95.0% CI: 1.128-5.440; P=0.022). Individuals carrying XPG rs2094258 AA genotype had an increased risk of lung cancer (OR per AA genotype, 3.020; 95.0% CI: 1.015-8.980; P=0.040) compared with individuals with the GG genotype, especially in nondrinkers (OR per AA genotype, 4.020; 95.0% CI: 1.211-13.339; P=0.017). In addition, we found that XPG rs17655 CG or GG genotype associated with decreased lung cancer risk in drinkers (OR per XPG rs17655 CG genotype, 0.238; 95.0% CI: 0.061~0.925; P=0.034; OR per XPG rs17655 GG genotype, 0.l39; 95.0% CI: 0.021-0.938; P=0.032). Haplotype analysis of all 7 SNPs was also conducted. We found that the haplotype of XPB (rs4150441, G>A; rs4150434, G>A) GA and the haplotype of XPG (rs2094258, G>A; rs4771436, T>G; rs17655, C>G) ATC had an increased association with lung cancer.Conclusions:These findings suggest an important role of XPB rs4150434 and XPG rs17655 polymorphisms for a biomarker for lung cancer risk among the Chinese population.
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Objective To explore the therapeutic efficacy of levofloxacin combined with anti-tuberculosis drugs and thoracic catheterization for the treatment of tuberculous pleuritis.Methods Patients who were admitted to Departments of Infectious Diseases of Hanzhong Central Hospital and Ankang Central Hospital between February 2014 and August 2016 for initial treatment of tuberculous pleuritis were included in the study,they were divided into groups A,B,C and D.Group A received 2HRZE + 7HR regimen combined with conventional drainage;group B received 2HRZE+ 7HR regimen combined with thoracic catheterization;group C received 2HRZEV + 7HR regimen combined with thoracic catheterization;group D received 2HRZEV + 10HR regimen combined with thoracic catheterization.groups B,C and D received thoracic catheterization,normal saline 20mL and urokinase 100,000U were given through the drainage tube.Results A total of 172 patients with newly diagnosed tuberctlous pleurisy were received for treatment.There were 45,53,38,and 36 cases in group A,B,C,and D respectively.The total effective rate of therapy for pleural effusion in group A was lower than that in group B(64.44％ vs 90.57％,x2 =9.863,P＜ 0.05);after two month therapy,total effective rate of therapy for pleural effusion in group B was lower than that in group C (18.87％ vs 39.47％,x2 =4.716,P＜0.05);at the end of therapy,total effective rate in group C was lower than that in group D (60.53 ％ vs 83.33 ％,x2 =4.731,P＜0.05).Conclusion For initial treatment of patients with tuberculous pleuritis,2HRZEV + 10HR antituberculosis regimen combined with thoracic catheterization and urokinase infusion can significantly improve the clinical symptoms and recovery rate of tuberculous pleuritis,facilitate drainage of pleural effusion and prevent pleural thickening,adhesion and encapsulation.
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Objective To investigate drug resistance genes and epidemic characteristics of β-lactamase carried by carbapenem-resistant Acinetobacter baumannii (CRAB) in the respiratory intensive care unit(RICU) in a hospital.Methods Clinically isolated CRAB from RICU patients in October-December 2015 were collected.Five drug resistance genes (KPC-2,IMP,VIM,NDM-1,OXA-23) were specifically amplified by polymerase chain reaction (PCR),amplified products were performed agarose gel electrophoresis and sequencing analysis,the homology was analyzed with pulsed-field gel electrophoresis (PFGE).Results A total of 22 CRAB strains were isolated in October-December 2015,19 (86.36％) of which were isolated from sputum.The resistance rate of 22 CRAB strains to compound sulfamethoxazole was 59.09 ％,resistance rate to minocycline was 9.09 ％,all were sensitive to polymyxin B,resistance rates to other antimicrobial agents were more than 80％.Three kinds of resistance genes KPC-2,IMP and NDM-1 were not found by PCR amplification,positive rates of VIM and OXA-23 were both 100％.PFGE homology analysis revealed that 22 strains were divided into 13 different types,each type contained 1-5 strains,9 types(69.23％) contained only 1 strain respectively,the other 4 types (30.77％) contained 2-5 strains.A5,A7,and A8;A9,A11,A14,A19 and A22;A4,A10 and A12;A16 and A18 were of the same type respectively.Conclusion The main types of β-lactamase-resistant genes of CRAB in RICU are VIM and OXA-23.Homology analysis shows a small parts are of the same clone strains,which reveals epidemic of a small scale.
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Objective:To investigate the expression and it's clinical significance of Survivin and Bcl-2 in nasal squamous cell carcinoma (SNSCC). Method:The immunohistochemical Envision two step method was used to measure the expression of Survivin and Bcl-2 in 35 cases of SNSCC, 20 cases of normal inferior concha tissues. Result:The expression of Survivin in SNSCC was 88.6%, significantly higher than the normal inferior turbinate mucosal tissue expression of 0% (P<0.01). The expression of Bcl-2 in SNSCC was 71.4%, significantly higher than the normal inferior turbinate mucosal tissue expression of 25% (P<0.01). Expression of Bcl-2 was significantly higher in SNSCC than in normal tissue. The expression of Survivin was positively correlated with Bcl-2 expression (P<0.01). The higher the grade of tumor, the lower expressions of Survivin and Bcl-2. Conclusion:Survivin and Bcl-2 may play an promoting role in the development and progression process of SNSCC. Survivin may become a target spot of SNSCC gene therapy.
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Traditional Chinese medicine (TCM) is gaining popularity across the world. The identification of Chinese materia medica (CMM) is vital for assuring safety and efficacy of the products. In this article, new technologies and methods, such as electronic nose, electronic tongue, histochemical localization, fluorescence microscopy, X-ray microscopy in phase contrast, computer image technology, and their application in the morphological identification or microscopic identification of CMM were reviewed.
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Drugs, Chinese Herbal , Chemistry , Medicine, Chinese Traditional , Methods , Microscopy , Methods , Plants, Medicinal , ChemistryABSTRACT
<p><b>OBJECTIVE</b>To explore a new noninvasive method for Hb Bart' s hydrops fetus by using PCR amplification efficiency discrimination between cell-free fetal DNA (cffDNA) and cell-free maternal DNA in maternal plasma.</p><p><b>METHODS</b>CffDNA samples from pregnant women bearing possible Hb Bart's hydrops fetus were collected. Fluorescent PCR and capillary electrophoresis (CE) were performed. Hb Bart's hydrops fetus was conclusively identified by different peak area ratio of products.</p><p><b>RESULTS</b>The peak area ratio of 30 cffDNA samples from Hb Bart' s hydrops fetus was much less than 1. However, the ratio of cffDNA sample from hydrops fetus due to other reasons was approximately equal to 1.</p><p><b>CONCLUSION</b>By using cffDNA fluorescent PCR and CE, a prenatal screening method for Hb Bart' s hydrops fetus was developed.</p>
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Female , Humans , Pregnancy , Bartter Syndrome , Diagnosis , DNA , Blood , Hydrops Fetalis , Diagnosis , Molecular Sequence Data , Pregnancy Trimester, First , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Prenatal Diagnosis , MethodsABSTRACT
<p><b>OBJECTIVE</b>To investigate the status of job burnout in traditional Chinese medicine (TCM) doctors and explore the effect of occupational commitment on job burnout.</p><p><b>METHODS</b>A test of occupational commitment and job burnout was carried out in 507 TCM doctors with occupational commitment questionnaire and Maslach Burnout Inventory-Human Services Survey (MBI-HSS).</p><p><b>RESULTS</b>The age group of < 30 years scored lowest (2.352 +/- 0.660) in personal accomplishment compared with 30 years old group and 40 years old group [(2.136 +/- 0.704) and (2.127 +/- 0.628) respectively] (P < 0.01). The score of emotional exhaustion and depersonalization increased with educational levels. There was significantly negative correlation between job burnout and occupational commitment (P < 0.01). Occupational commitment had significant effect on job burnout (P < 0.01). Occupational trouble commitment was a major predictor for emotional exhaustion (P < 0.01). Professional self-efficacy commitment was a major predictor for depersonalization (P < 0.01). Affective commitment was a major predictor for personal accomplishment (P < 0.01).</p><p><b>CONCLUSION</b>Occupational commitment is a good predictor for job burnout. Improving occupational commitment is an important measure to prevent job burnout.</p>
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Adult , Female , Humans , Male , Middle Aged , Young Adult , Burnout, Professional , Psychology , Medicine, Chinese Traditional , Physicians , Psychology , Surveys and QuestionnairesABSTRACT
Objective To investigate the environmental quality and water quality of bathing beach in Haikou,Hainan province and the effects on human health.Methods The investigation of the bathing beach environment and the water quality were conducted according to Bathing Beach Monitoring Regulations(2002).The water samples were collected at PM 3:00-5.00 on May 28th to June 3th in 2007 from three sampling sites,No.1(easily be polluted),No.2(crowded),No.3(less pollution).The questionnaire survey was conducted on the present day and 7 days later,the items included the respiratory,digestive systems infection and eye,ear,nose and skin inflammation,the survey was completed in two days.Results The environment survey of bathing beach suggested that non-point source pollution caused by domestic wastewater emerged on raining days,the salinity was 31‰-33‰,clarity exceeded 30 centimeter and no heat pollution was found.The pH value,chroma,dissolved oxygen,nitrate nitrogen,chemical oxygen demand,inorganic nitrogen,fecal coli group was 8.01-8.10,11.42-15.00 NTU,5.60-6.71 mg/L,0.16- 0.17mg/L,2.70-3.40mg/L,0.19-0.21 mg/L and 35.0-36.0/L respectively.Four hundred and eight questionnaires were eligible, the response rate was over 90%.The results demonstrated that the swimmers were facing to the increased illness risk from the water quality,such as skin pruritus,gastrointestinal allergies,throat sore,eye and ear and nose infections.There was distinct higher proportion in the participants with water contact and complained one or more symptoms than those without water contact(P
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<p><b>OBJECTIVE</b>To isolate the bioflocculant-producing bacteria from activated sludge and investigate the flocculating characteristics of the newly isolated bioflocculant.</p><p><b>METHODS</b>Bacteria were screened from activated sludge samples to isolate bioflocculant-producing bacteria. Flocculating activity was used as a measure of the flocculating capability of the bioflocculant.</p><p><b>RESULTS</b>A novel bioflocculant-producing bacterium was isolated, which was identified to belong to genus Aeromonas and named as Aeromonas sp. N11. Flocculating activity increased in the presence of K+, Na+, or Ca2+. The highest flocculating activities for kaolin suspension were obtained in acidic pH ranges, and optimum pHs for it were 3.0, 4.0, and 5.0 with 1 mmol/L K+, Ca+, and Na+ present, respectively. The highest flocculating activities for soil suspension were observed at pH 8.0. The bioflocculant had a good flocculating activity and could achieve a flocculating activity of 92.4% for kaolin suspension at a dosage of only 1 mgxL(-1), and its activity in kaolin suspension was decreased by only 9.2% after heating at 100 degrees C for 60 min.</p><p><b>CONCLUSION</b>The bioflocculant produced by Aeromonas sp. N11 has strong flocculating activity and high stability, which affords high possibility of its practical use.</p>
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Aeromonas , Metabolism , Culture Media , Flocculation , Hydrogen-Ion Concentration , KaolinABSTRACT
<p><b>OBJECTIVE</b>Hemophilia A is an inherited bleeding disorder caused by defects in factor VIII (FVIII) gene. In the present study, the frequencies of the microsatellite alleles at introns 13 and 22 in the factor VIII gene were analyzed in the group of Han nationality in Guangxi Zhuang Autonomous Region to explore their diagnostic value for hemophilia A. These two sites were also used to detect the carriers in 13 hemophilia A families.</p><p><b>METHODS</b>Ninty-one individuals of Han ethnic group in Guangxi Zhuang Autonomous Region (135 X chromosomes) and 13 HA families were subjected to molecular studies. First, these two fragments were PCR amplified simultaneously. Then, silver staining was used later to show their polymorphisms. The investigators selected one sample at random to obtain its lengths of the PCR products at these two sites by ABI310 PCR amplifier. After counting its repeated numbers of (CA) according to the documents concerned, the repeated numbers of the other samples could be counted easily.</p><p><b>RESULTS</b>In the 91 individuals, 6 and 4 alleles were detected at these two sites, respectively. At intron 13 the allele frequencies ranged from 0.0002 to 0.5408 and polymorphism information content (PIC) was 0.5899. At intron 22 the allele frequencies ranged from 0.0444 to 0.4963 and its PIC was 0.5359. The actual heterozygosity for intron 13 and intron 22 were 0.6364 (28/44) and 0.5227 (23/44), respectively. In 13 hemophilia A families with positive history, 9 of them were diagnosed by this method and the diagnosis rate was 69%.</p><p><b>CONCLUSION</b>With high PICs, (CA)n at intron 13 and intron 22 were two valuable sites in the diagnosis of hemophilia A in the population of Han ethnic group in Guangxi Zhuang Autonomous Region. Compared with some other HA restrictive fragment length polymorphisms (RFLP), intron 22 (GT)n (AG)n was more informative.</p>
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Female , Humans , Male , Alleles , Amplified Fragment Length Polymorphism Analysis , Asian People , Genetics , Factor VIII , Genetics , Gene Frequency , Genetic Predisposition to Disease , Hemophilia A , Diagnosis , Genetics , Heterozygote , Introns , Polymerase Chain Reaction , Polymorphism, Genetic , Sequence Analysis, DNA , Silver StainingABSTRACT
Objective To measure the levels of serum transferrin receptors (sTfR) and serum ferritin (SF) in children with hemoglobin H disease for investigation the iron metabolism(sideropenic or iron overload) and to guide the proper intervention.To get a best index of judging the iron overload in HbH children by analysis of the values of sTfR and sTfR/lgSF.Methods Peripheral blood specimens were obtained from 50 cases of HbH children and 30 cases of healthy normal controls,the levels of sTfR and SF were examined by enzyme linked immunosorbent assays(ELISA).The diagnosis efficiency of sTfR and sTfR/lgSF in HbH children′s iron metabolism was judged by receiver operator cha-racteristic (ROC) curve analysis.Results The level of sTfR in HbH group was (6.74?1.02) mg?L-1,which was significantly lower than that in healthy control group[(8.09?0.67) mg?L-1](P