1.Surveillance of bacterial resistance in tertiary hospitals across China:results of CHINET Antimicrobial Resistance Surveillance Program in 2022
Yan GUO ; Fupin HU ; Demei ZHU ; Fu WANG ; Xiaofei JIANG ; Yingchun XU ; Xiaojiang ZHANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Yuling XIAO ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Jingyong SUN ; Qing CHEN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yunmin XU ; Sufang GUO ; Yanyan WANG ; Lianhua WEI ; Keke LI ; Hong ZHANG ; Fen PAN ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Wei LI ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Qian SUN ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanqing ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Wenhui HUANG ; Juan LI ; Quangui SHI ; Juan YANG ; Abulimiti REZIWAGULI ; Lili HUANG ; Xuejun SHAO ; Xiaoyan REN ; Dong LI ; Qun ZHANG ; Xue CHEN ; Rihai LI ; Jieli XU ; Kaijie GAO ; Lu XU ; Lin LIN ; Zhuo ZHANG ; Jianlong LIU ; Min FU ; Yinghui GUO ; Wenchao ZHANG ; Zengguo WANG ; Kai JIA ; Yun XIA ; Shan SUN ; Huimin YANG ; Yan MIAO ; Mingming ZHOU ; Shihai ZHANG ; Hongjuan LIU ; Nan CHEN ; Chan LI ; Jilu SHEN ; Wanqi MEN ; Peng WANG ; Xiaowei ZHANG ; Yanyan LIU ; Yong AN
Chinese Journal of Infection and Chemotherapy 2024;24(3):277-286
Objective To monitor the susceptibility of clinical isolates to antimicrobial agents in tertiary hospitals in major regions of China in 2022.Methods Clinical isolates from 58 hospitals in China were tested for antimicrobial susceptibility using a unified protocol based on disc diffusion method or automated testing systems.Results were interpreted using the 2022 Clinical &Laboratory Standards Institute(CLSI)breakpoints.Results A total of 318 013 clinical isolates were collected from January 1,2022 to December 31,2022,of which 29.5%were gram-positive and 70.5%were gram-negative.The prevalence of methicillin-resistant strains in Staphylococcus aureus,Staphylococcus epidermidis and other coagulase-negative Staphylococcus species(excluding Staphylococcus pseudintermedius and Staphylococcus schleiferi)was 28.3%,76.7%and 77.9%,respectively.Overall,94.0%of MRSA strains were susceptible to trimethoprim-sulfamethoxazole and 90.8%of MRSE strains were susceptible to rifampicin.No vancomycin-resistant strains were found.Enterococcus faecalis showed significantly lower resistance rates to most antimicrobial agents tested than Enterococcus faecium.A few vancomycin-resistant strains were identified in both E.faecalis and E.faecium.The prevalence of penicillin-susceptible Streptococcus pneumoniae was 94.2%in the isolates from children and 95.7%in the isolates from adults.The resistance rate to carbapenems was lower than 13.1%in most Enterobacterales species except for Klebsiella,21.7%-23.1%of which were resistant to carbapenems.Most Enterobacterales isolates were highly susceptible to tigecycline,colistin and polymyxin B,with resistance rates ranging from 0.1%to 13.3%.The prevalence of meropenem-resistant strains decreased from 23.5%in 2019 to 18.0%in 2022 in Pseudomonas aeruginosa,and decreased from 79.0%in 2019 to 72.5%in 2022 in Acinetobacter baumannii.Conclusions The resistance of clinical isolates to the commonly used antimicrobial agents is still increasing in tertiary hospitals.However,the prevalence of important carbapenem-resistant organisms such as carbapenem-resistant K.pneumoniae,P.aeruginosa,and A.baumannii showed a downward trend in recent years.This finding suggests that the strategy of combining antimicrobial resistance surveillance with multidisciplinary concerted action works well in curbing the spread of resistant bacteria.
2. Mechanism of Huanglian Ejiao Tang on Prevention and Treatment of Myocardial Injury Induced by Anthracycline Chemotherapy Drugs
Rui-hua WANG ; Yan-fen LI ; Ai-ying ZUO ; Yu-hong HUANG ; Bao-he WANG
Chinese Journal of Experimental Traditional Medical Formulae 2019;25(8):20-27
Objective: To observe the preventive and therapeutic effect of Huanglian Ejiao Tang on myocardial injury induced by anthracycline chemotherapeutic drugs in all kinds of cancer patients undergoing chemotherapy. Method:We chosen all kinds of cancer patients with combined use of anthracycline chemotherapy drugs in our hospital, 21 days as one cycle. The cardiac toxicity reaction was observed after three continuous chemotherapy cycles. A total of 64 patients who met the dialectical criteria of "imbalance between heart-Yang and kidney-Yin" were randomly divided into treatment group (32 cases) and control group (32 cases). Patients in treatment group were treated with Chinese medicine Huanglian Ejiao Tang based on original chemotherapy regimen, adding and subtracting Chinese medical materials according to the symptoms. Patients in control group continued to maintain the original chemotherapy regimen, and both two groups of patients continued to receive 3 cycles of continuous chemotherapy. By comparing the cardiac function classification and cardiac function tolerance between the 3 cycles and 6 cycles of two groups of patients after chemotherapy; changes of echocardiography index, QTc interval, creatine kinase isoenzyme (CK-MB), Myoglobin (MYO), cardiac troponin I (cTNI)and nitrogenous terminal-pro-brain natriuretic peptide(NT-pro-BNP) concentration value were compared between two groups; and the concentrations of adrenaline (E), norepinephrine (NE) and angiotensin Ⅱ(AngⅡ) were observed and compared; meanwhile, the correlation analysis was carried out at the same time. Result:After 6 cycles of chemotherapy in Chinese medicine treatment group, degree of cardiac function classification and the 6 minute walking heart function tolerance were significantly better than those at the 3 cycles of chemotherapy (P<0.05), but there was no significant change in control group; the concentrations of CK-MB, cTNI, MYO and NT-pro-BNP in treatment group were significantly lower than those in control group(P<0.05), and the electrocardiogram QTc interval in the treatment group was significantly lower than that in the control group (P<0.05); echocardiography indexes E/A ratio and left ventricular ejective fraction (LVEF) value in the treatment group were significantly higher than those in control group (P<0.05). There were no significant changes in left ventricular end-systolic diameter (LVDd) and left ventricular end-systolic diameter (LVDs) between the treatment and the control group. After 3 cycles and 6 cycles of chemotherapy, the blood NE,E and AngⅡ concentrations in the treatment group were significantly lower than those in the control group (P<0.05). There were positive linear correlation in concentration changes of blood NE, E and AngⅡ as well as the concentration changes of CK-MB, cTNI, MYO and NT-pro-BNP between 3 cycles and 6 cycles after chemotherapy. After 6 cycles of chemotherapy, the incidence of cardiovascular events in the treatment group was significantly lower than that in the 3 cycles of chemotherapy, while the incidence in control group was increased. Conclusion:Huanglian Ejiao Tang can reduce the excitability of the symppthetic nervous system (SNS) and renin-angiotensin system(RAS) in human body and inhibit the release level of NE, E and AngⅡ by effect of "invigorating the kidney and clearing the heart". It has a certain preventive and treatment effect on the cardiac toxicity of patients with the cumulative use of anthracycline chemotherapy. To a certain extent, it can inhibit myocardial injury, improve cardiac function and reduce the incidence of cardiovascular events.
3.Molecular Characterization and Correlation with β-lactam Resistance of Streptococcus pneumonia Isolates in Hangzhou, China.
Mei Fen CHU ; Xiao Xiang LIU ; Shao Ni ZHANG ; Yan Ying HUANG ; Peng DU ; Li Fang WANG ; Lei JI ; Jie YAN ; Ai Hua SUN
Biomedical and Environmental Sciences 2018;31(5):389-393
Penicillin-binding proteins (PBPs) are the target of β-lactam antibiotics (the major treatment for Streptococcus pneumoniae infections), and mutations in PBPs are considered as a primary mechanism for the development of β-lactam resistance in S. pneumoniae. This study was conducted to investigate the mutations in the PBPs of clinical S. pneumoniae isolates in Hangzhou, China, in correlation with β-lactam resistance. Results showed that 19F was the predominant serotype (7/27) and 14 of the S. pneumoniae isolates were resistant to both penicillin G and cephalosporin. Genotyping results suggested that β-lactam-resistant isolates primarily exhibited single-site mutations in both the STMK and SRNVP motifs of pbp1a in combination with double-site mutations in the STMK motif of pbp2x, which might be the primary mechanisms underlying the β-lactam resistance of the isolates in this study.
Anti-Bacterial Agents
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pharmacology
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China
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epidemiology
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Drug Resistance, Bacterial
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Humans
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Pneumococcal Infections
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epidemiology
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microbiology
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Streptococcus pneumoniae
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drug effects
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genetics
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beta-Lactams
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pharmacology
4.Effects of autologous peripheral stem cell transplantation on acoustic radiation force impulse in patients with HBV-related decompensated cirrhosis.
Qin-Zhi DENG ; ; Ting CAI ; Shun ZHANG ; Ai-Rong HU ; Xing-Fen ZHANG ; Jian-Rong HUANG
Chinese Journal of Hepatology 2015;23(11):832-836
OBJECTIVETo perform a prospective study the effects of autologous peripheral blood stem cell (APBSC) transplantation on acoustic radiation force impulse (ARFI) in patients with hepatitis B virus (HBV)-related decompensated cirrhosis.
METHODSA total of 68 hospitalized patients with HBV-related decompensated cirrhosis undergoing conventional treatment were included in the study. Thirty-three of these patients also received APBSC transplantation therapy (treatment group) and 35 did not (control group). The treatment group was observed for postoperative adverse reaction, and changes (pre-vs.post-treatment) in total bilirubin, prothrombin time (PT), albumin (Alb), spleen size and ARFI imaging findings. Statistical analyses were carried out using the t-test, non-parametric test, and chi-square test.
RESULTSThe patients who received APBSC transplantation showed improving levels of Alb and PT, but not of total bilirubin, at postoperative weeks 24, 36 and 48, and reduced spleen length and ARFI findings at postoperative weeks 36 and 48.Compared to the baseline data (week 0) for the treatment group and to the data for the control groups, these differences were statistically significant (P less than 0.05).
CONCLUSIONSAPBSC transplantation can reduce ARFI imaging findings and improve the pathology of liver fibrosis in patients with HBV-related decompensated cirrhosis.
Bilirubin ; blood ; Biomarkers ; blood ; Elasticity Imaging Techniques ; Hepatitis B ; therapy ; Hepatitis B virus ; Humans ; Liver Cirrhosis ; therapy ; virology ; Peripheral Blood Stem Cell Transplantation ; Prospective Studies ; Prothrombin Time
5.Clinical research on fire filiform needle combined with mild moxibustion for postherpetic neuralgia.
Shi-Xi HUANG ; Mei MAO ; Jing-Jing PU ; Yue-Hui CHEN ; Lin DENG ; Hong ZHAO ; Mei-Jing GENG ; Run-Fen ZHONG ; Ya-Jie GUO ; Zhi-Shun LIU ; Ying-Hui WANG ; Yong-Ming YE ; Jun LIU ; Tao YANG ; Ai-Mei ZHAO ; Xiao-Hong CHEN ; Hai-Yan ZHU ; Yue-Chen DU
Chinese Acupuncture & Moxibustion 2014;34(3):225-229
OBJECTIVETo compare efficacy differences between fire filiform needle combined with mild moxibustion and gabapentin combined with sham acupuncture for postherpetic neuralgia (PHN).
METHODSOne hundred cases of PHN were randomly divided into a needle group and a medicine group, 50 cases in each one. In the needle group, pricking method of fire filiform needle was given at the Ashi points, and then mild moxibustion was applied for 15 min. In the medicine group, the oral administration of gabapentin capsule and sham acupuncture at non-acupoints in the distal end of lesions were applied. The treatment was required for 21 days in both groups. The visual analogue score (VAS) was recorded before treatment and on the 1st day, 2nd day, 3rd day, 6th day, 9th day and 12th day of treatment. The most severity of pain within last 24 h, preset severity of pain, immediate analgesia effect and starting time of pain relief were observed, also the efficacy was assessed and improvement of symptoms was observed in the follow-up visit.
RESULTSThe total effective rate was 94.0% (47/50) in the fire filiform needle group, which was superior to 86.0% (43/50) in the medicine group (P < 0.05). Compared with medicine group, the VAS of the most severity of pain within last 24 h was obviously reduced after the 2nd treatment in the fire filiform needle group while that of present severity of pain was relieved after the 1st treatment (both P < 0.05). The immediate analgesia effect in the fire filiform needle group was obviously superior to that in the medicine group in the first three times of treatment (all P < 0.05). The average time of pain relief was (3.91 +/- 0.82) days in the fire filiform needle group, which was significantly earlier to (6.53 +/- 1.13) days in the medicine group (P < 0.05). 26 cases were cured in the fire filiform needle group in the follow-up visit, which was superior to 2 cases in the medicine group (P < 0.05). The improvement of VAS, pain range and sleep quality in the needle group were also superior to those in the medicine group (all P < 0.05). The direct medical cost in the fire filiform needle group was (232.32 +/- 48.108) yuan, which was significantly lower than (466.00 +/- 41.09) yuan in the medicine group (P < 0.05). There was only one case of adverse effect in the medicine group during the treatment.
CONCLUSIONThe fire filiform needle combined with mild moxibustion could obviously relieve the pain in PHN patients, which has superior immediate analgesia effect and pain relieving time compared with gabapentin, which also has less adverse effects and cheap cost.
Acupuncture Points ; Acupuncture Therapy ; Aged ; Combined Modality Therapy ; Female ; Humans ; Male ; Middle Aged ; Moxibustion ; Neuralgia, Postherpetic ; therapy ; Pain Measurement ; Treatment Outcome
6.Adenosine for pulmonary vasodilator testing in children with idiopathic pulmonary arterial hypertension.
Li-jun FU ; Ai-qing ZHOU ; Ying GUO ; Peng-jun ZHAO ; Mei-rong HUANG ; Fen LI
Chinese Journal of Pediatrics 2011;49(12):886-889
OBJECTIVEThe assessment of pulmonary vascular reactivity plays an important role in the management of idiopathic pulmonary arterial hypertension (IPAH). The aim of this study was to explore the indications and methodology of pulmonary vasodilator testing in children with IPAH.
METHODSFrom October 2009 to June 2011, a cohort of pediatric patients with IPAH in WHO functional classes II to III were enrolled in the study. Right heart catheterization was performed in all patients. After baseline hemodynamics were obtained, adenosine infusions were started at a dose of 50 µg/(kg·min), increased by 25 µg/(kg·min) at 2 min intervals to a maximum of 250 µg/(kg·min) or until a positive acute response.
RESULTSA total of 15 patients with IPAH were enrolled in the study. The mean age of the patients was 6.3 yrs. Mean pulmonary artery pressure (mPAP) was (67.1 ± 15.9) mm Hg. Pulmonary capillary wedge pressure (PCWP) was (9.7 ± 2.9) mm Hg. Pulmonary vascular resistance index (PVRI) was (17.9 ± 7.5) Wood U·m(2). Three patients were responders, defined as a fall in mPAP of at least 10 mm Hg to a pressure level of 40 mm Hg or lower. Twelve patients were nonresponders according to the same criteria. Five out of the 15 patients experienced adverse effects, including chest discomfort (n = 1), systemic hypotension (n = 3) and bradycardia (n = 1). All side effects abated within 30-60 s of the discontinuation of the adenosine infusion.
CONCLUSIONAdenosine is an effective vasodilator in children with IPAH and can be used for safe and rapid assessment of vasodilator reserve in these patients.
Adenosine ; Adolescent ; Child ; Child, Preschool ; Familial Primary Pulmonary Hypertension ; Female ; Humans ; Hypertension, Pulmonary ; physiopathology ; Infant ; Male ; Pulmonary Artery ; physiopathology ; Pulmonary Wedge Pressure ; Vascular Resistance ; Vasodilator Agents
7.Inhibitory effect of anluohuaxianwan on experimental hepatic fibrosis in rats.
Xing-Hua TAN ; Chang-Qing LI ; Shang-Rong ZOU ; Min XIE ; Ai-Min ZHANG ; Wen-Li LI ; Xiao-Yue LI ; Hui-Fen HUANG ; Chun-Liang LEI
Chinese Journal of Hepatology 2010;18(1):9-12
OBJECTIVETo investigate the effects of anluohuaqianwan on experimental hepatic fibrosis induced by dimethyl nitrosamine (DMN) in rats.
METHODS36 male SD rats were randomly dividied into three groups: model group, normal group, anluohuaqianwan group. The rats in the three groups were treated with DMN daily for 4 weeks. The liver function was detected using auto biochemistry analyzer, the serum HA, LN, IV-C, PIIIP were detected by immunoradiometry, the histopathology was observed in the left liver lobe after HE staining, the expression of matrix metalloproteinase-2 (MMP-2) in liver tissue were detected by immunohistochemistry.
RESULTSThe serum levels of ALT, AST, ALP, TP, ALB and the contents of HA, LN, IV-C in model group were significantly increased compared to these in the normal group (P less than 0.01). The serum levels of ALT, AST and the contents of HA in anluohuaqianwan group were significantly lower than those in the model group (P less than 0.01). The liver MMP-2 in the model group was significantly increased compared to that in the normal group (P less than 0.05). The expression of MMP-2 in liver tissue of model group was lower than that in the anluohuaqianwan group (P less than 0.05).
CONCLUSIONAnluohuaqianwan can inhibit liver fibrosis in rats induced by DMN.
Alanine Transaminase ; blood ; Animals ; Aspartate Aminotransferases ; blood ; Dimethylnitrosamine ; Drug Combinations ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Hyaluronic Acid ; blood ; Hydroxyproline ; metabolism ; Immunohistochemistry ; Liver ; drug effects ; metabolism ; pathology ; Liver Cirrhosis, Experimental ; chemically induced ; drug therapy ; metabolism ; pathology ; Liver Function Tests ; Male ; Matrix Metalloproteinase 2 ; metabolism ; Plants, Medicinal ; chemistry ; Random Allocation ; Rats ; Rats, Sprague-Dawley
8.Surgical treatment and pathological findings of hematological malignancies patients complicated with lung diseases..
Xiao-Wen TANG ; Hao-Yue HUANG ; Sheng-Hua ZHAN ; Xing-Wei SUN ; Xiao-Lan SHI ; Ai-Ning SUN ; Zhen-Ya SHEN ; Su-Ya KANG ; Zheng-Ming JIN ; Hui-Ying QIU ; Miao MIAO ; Zheng-Zheng FU ; Yue HAN ; Su-Ning CHEN ; Sheng-Li XUE ; Xiao MA ; Yue-Jun LIU ; Xiao-Hui HU ; Hui-Fen ZHOU ; De-Pei WU
Chinese Journal of Hematology 2009;30(12):829-833
OBJECTIVETo determine the pulmonary pathological changes in hematological malignancy patients with pulmonary complications.
METHODS17 hematological malignancy patients underwent surgical treatment were evaluated retrospectively. The pathological changes of all the surgical specimens were examined postoperatively by standard hematoxylin and eosin (HE) staining.
RESULTSPathological examination confirmed: aspergillus infection in 9 patients, sub-acute inflammation (fibrosis and hematoma formation) in 3, and each in 1 of pulmonary infarction with granulomatous tissue in the periphery; granulomatous inflammation with calcified tubercle; alveolar dilation and hemorrhage, interstitial fibrosis and focal vasculitis; intercostal neurilemmoma; and moderate-differentiated adenocarcinoma accompanied by intrapulmonary metastasis. And several operative complications (1 case of fungal implantation, 3 pleural effusion and adhesions and 2 pulmonary hematoma) were occurred. The coincidence rate of pre- and post-operative diagnosis was 9/14 (64.3%). After surgery, 8 patients were received hematopoietic stem cell transplantation (HSCT, allo-gene or autologous), with 7 succeeded. On effective secondary antifungal prophylaxis, 4 of 5 patients of aspergillosis succeeded in transplantation with free from mycotic relapse, one patient died from fungal relapse.
CONCLUSIONHematological malignancies with persistent and/or resistant pulmonary infection, hemoptysis, or unexplained lung diseases, should be treated in time by surgery operation to effectively eliminate residual disease and obtain a definitive diagnosis, so as to create a prerequisite condition for the following treatments. Moreover, the secondary antifungal prophylaxis can provide active roles for patients scheduled for chemotherapy and/or HSCT.
Aspergillosis ; diagnosis ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Lung Diseases ; Neoplasm Recurrence, Local
9.Therapeutic effect of Cheatham-Platinum stent implantation for vessel stenosis associated with congenital heart disease in children and adolescents.
Fen LI ; Ai-Qing ZHOU ; Wei GAO ; Zhi-Qing YU ; Kun SUN ; Mei-Rong HUANG ; Yun LI ; Jian-Ping YANG ; Wu ZHAO
Chinese Journal of Pediatrics 2009;47(4):255-259
OBJECTIVEAlthough NuMED Cheatham-Platinum (CP) stent was specifically designed to treat vascular obstructions associated with congenital heart disease (CHD), its application in pediatric patients is relatively uncommon, especially in the pulmonary artery stenosis. The aim of this study was to evaluate the immediate-, early- and intermediate-term results of CP stent implantation in the treatment of vessel stenosis associated with CHD in children and adolescents.
METHODSFrom August 2005 to May 2007, 5 consecutive patients (3 boys and 2 girls) diagnosed as vascular stenosis associated with CHD underwent CP stent implantation in our institution. One patient had native coarctation of the aorta (CoA) and four patients had pulmonary artery stenosis. The median age and weight of patients were 12 years (range 4 - 15 years) and 24 kg (range 20 - 51 kg), respectively. The CP stent and NuMED Balloon-in-Balloon catheter were selected according to digital subtracted angiography measurements. After checking for correct position by angiography, the inner balloon and outer balloon inflated successively to expand the stent to desired diameter.
RESULTSTotally 6 stent placement procedures were performed and 8 CP stents (8-zig, 22 - 39 mm in length) were implanted in these 5 patients. All stents but one in a case of right pulmonary artery stenosis were immediately successfully placed in the target lesions without displacement during the procedures. For this case, a repeat procedure was performed and a second CP stent was reimplanted successfully 11 months later. After the procedure, the systolic pressure gradient across the stenosis decreased from (43.43 +/- 25.61) mm Hg (1 mm Hg = 0.133 kPa) to (3.29 +/- 3.09) mm Hg (t = 4.320, P < 0.01) and the narrowest diameter of the stenotic vessels increased from (6.86 +/- 2.04) mm to (13.44 +/- 4.02) mm (t = -4.508, P < 0.01). The percentage of pulmonary artery flow to the ipsilateral lung increased from 11.0% and 13.0% to 47.5% and 52.2% after the procedure in 2 cases of unilateral pulmonary artery branch stenosis, respectively. The ratio of right ventricular to aortic systolic pressure decreased from 62.3% and 72.2% to 27.0% and 33.3% in 2 cases of bilateral branch pulmonary artery stenosis, respectively. Upper limb blood pressure of one case of native CoA dropped greatly from 206/133 mm Hg to 156/95 mm Hg. During a median follow-up of 20 months (range 13 - 34 months), the results have been stable without complications except 2 stents which developed intrastent restenosis 6 months after the procedure.
CONCLUSIONOur experience suggests that the CP stent implantation is safe and feasible for the treatment of vessel stenosis associated with CHD in children and adolescents. The immediate-, early- and interim results are encouraging, but long-term results remain to be further evaluated and demand many more cases to be studied.
Adolescent ; Aortic Coarctation ; therapy ; Cardiac Catheterization ; Child ; Child, Preschool ; Constriction, Pathologic ; Female ; Heart Defects, Congenital ; complications ; therapy ; Humans ; Male ; Platinum ; Pulmonary Valve Stenosis ; complications ; therapy ; Stents ; Treatment Outcome
10.A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.
Li-jun FU ; Ai-qing ZHOU ; Mei-rong HUANG ; Shu-hong SHEN ; Jie SHEN ; Zhi-fang ZHANG ; Fen LI
Chinese Medical Journal 2008;121(5):399-404
BACKGROUNDFamilial pulmonary arterial hypertension (FPAH) is an autosomal dominant disorder characterized by plexiform lesions of endothelial cells in pulmonary arterioles which leads to elevated pulmonary arterial pressure, right-sided heart failure and death. Heterozygous mutations in the bone morphogenetic protein type II receptor gene (BMPR2) have been found to underlie a majority of FPAH cases. More than 140 distinct mutations have been identified in FPAH cases and in idiopathic pulmonary arterial hypertension (IPAH) cases, but only one mutation has been reported in Chinese patients.
METHODSA three-generation pedigree of FPAH and another 10 patients with IPAH were collected. In the family, two of the 9 surviving and one deceased family member were diagnosed as FPAH. The entire protein-coding region and intron/exon boundaries of the BMPR2 gene were amplified by PCR using DNA samples from affected individuals. Direct sequencing of PCR products was performed on both the sense and antisense strands. To confirm the segregation of the mutation within the family and exclude the presence of the mutation in normal subjects, the relevant exon was amplified by PCR, followed by mutation-specific RPLP analysis.
RESULTSIn the Chinese pedigree with FPAH an A-to-T transition at position 1157 in exon 9 of the BMPR2 gene was identified which resulted in a Glu386Val mutation. We confirmed the segregation of the mutation within the family and excluded the presence of the mutation in a panel of 200 chromosomes from normal subjects. No mutation was detected in BMPR2 in the other 10 patients with IPAH.
CONCLUSIONSThis amino acid substitution occurs at a glutamic acid that is highly conserved in all type II TGF-beta receptors. The nearly invariant Glu forms an ion pair with an invariant Arg at position 491 thereby helping to stabilize the large lobe. Substitution of Arg at position 491 is the most frequently observed missense mutation in FPAH, but until now no mutations at position 386 have been found in FPAH. The predicted functional impact of the Glu386Val mutation and its absence in healthy controls support the mutation as the cause of FPAH.
Adolescent ; Amino Acid Sequence ; Bone Morphogenetic Protein Receptors, Type II ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Hypertension, Pulmonary ; genetics ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Pedigree

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