1.Study on a novel mutation of B glycosyltransferase gene related with an ABx variant.
Wen-jian HU ; Guang-cheng FU ; Xian-guo XU ; Fa-ming ZHU ; Hang-jun LV ; Li-xing YAN
Chinese Journal of Medical Genetics 2012;29(5):566-569
OBJECTIVETo explore the molecular basis of an individual featuring an ABx variant of ABO blood group system.
METHODSSerological assays were used to characterize the erythrocyte phenotypes and salivary ABH secretors. All of the seven exons and flanking introns of ABO glycosyltransferase gene were amplified with polymerase chain reaction (PCR). And the products were sequenced bidirectionally following enzyme digestion. Exons 6 and 7 were also subcloned and analyzed for haplotypes of the ABO gene.
RESULTSErythrocytes of the proband have expressed a strong A antigen and a weak B antigen, which was identified as a rare ABx variant in addition with other serological features. Nine heterozygous sites in exon 6 (297A/G) and exon 7 (467C/T, 526C/G, 657C/T, 703G/A, 796C/A, 803G/C, 808T/A, 930G/A) of the coding region of the ABO gene were identified. Based on haplotype analysis, one allele was determined as common A102, whilst another was consistent with B101 except for an 808T>A mutation which has resulted in replacement of phenylalanine with isoleucine at position 270 of glycosyltransferase B.
CONCLUSIONThe 808T>A mutation of the glycosyltransferase B gene may decrease the enzymatic activity and result in the Bx variant.
ABO Blood-Group System ; genetics ; Adult ; Exons ; Female ; Glycosyltransferases ; genetics ; Haplotypes ; Humans ; Mutation
2.Molecular basis for real RhD negative and RhDel phenotypes in Yiwu population of Zhejiang Province in China.
Xiao-Dong JIN ; Guang-Cheng FU ; Xian-Guo XU ; Fa-Ming ZHU ; Li-Xing YAN
Journal of Experimental Hematology 2010;18(4):1051-1054
This study was purposed to investigate the molecular basis for RhD negative phenotype in Yiwu population in Zhejiang Province of China. The RhD negative samples were screened by saline agglutination test in blood donors. Some real RhD negative and RhDel phenotypes were identified using anti-human globulin test and absorbtion elution test. Ten exons of RHD gene in these samples were amplified by PCR-SSP, and positive exons were DNA sequenced. The results indicated that 30 real RhD negative and 8 RhDel phenotypes were identified in 38 initial RhD negative samples. Ten exons were complete negative in 28 real RhD negative samples and only exon 1, 2 and 10 were positive in 2 real RhD negative samples amplified by PCR. All 10 exons in 8 RbDel samples were positive and a DNA variant (1227G > A) was found in 8 RhDel samples. It is concluded that all exons are absence in most real RhD negative phenotypes, and the partial exons absence is also found in some real negative phenotypes among Yiwu population in Zhejiang province of China. The G to A mutation at position 1227 is found in all RhDel phenotypes.
Alleles
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Asian Continental Ancestry Group
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genetics
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Base Sequence
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China
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Exons
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Genotype
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Humans
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Molecular Sequence Data
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Phenotype
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Polymorphism, Genetic
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Rh-Hr Blood-Group System
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genetics
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immunology
3.Osteopontin protects against hyperoxia-induced lung injury by inhibiting nitric oxide synthases.
Xiang-Feng ZHANG ; Shuang LIU ; Yu-Jie ZHOU ; Guang-Fa ZHU ; Hussein D FODA
Chinese Medical Journal 2010;123(7):929-935
BACKGROUNDExposure of adult mice to more than 95% O(2) produces a lethal injury by 72 hours. Nitric oxide synthase (NOS) is thought to contribute to the pathophysiology of murine hyperoxia-induced acute lung injury (ALI). Osteopontin (OPN) is a phosphorylated glycoprotein produced principally by macrophages. OPN inhibits inducible nitric oxide synthase (iNOS), which generates large amounts of nitric oxide production. However, the relationship between nitric oxide and endogenous OPN in lung tissue during hyperoxia-induced ALI has not yet been elucidated, thus we examined the role that OPN plays in the hyperoxia-induced lung injury and its relationships with NOS.
METHODSOne hundred and forty-four osteopontin knock-out (KO) mice and their matched wild type background control (WT) were exposed in sealed cages > 95% oxygen or room air for 24- 72 hours, and the severity of lung injury was assessed; expression of OPN, endothelial nitric oxide synthase (eNOS) and iNOS mRNA in lung tissues at 24, 48 and 72 hours of hyperoxia were studied by reverse transcription-polymerase chain reaction (RT-PCR); immunohistochemistry (IHC) was performed for the detection of iNOS, eNOS, and OPN protein in lung tissues.
RESULTSOPN KO mice developed more severe acute lung injury at 72 hours of hyperoxia. The wet/dry weight ratio increased to 6.85 +/- 0.66 in the KO mice at 72 hours of hyperoxia as compared to 5.31 +/- 0.92 in the WT group (P < 0.05). iNOS mRNA (48 hours: 1.04 +/- 0.08 vs. 0.63 +/- 0.09, P < 0.01; 72 hours: 0.89 +/- 0.08 vs. 0.72 +/- 0.09, P < 0.05) and eNOS mRNA (48 hours: 0.62 +/- 0.08 vs. 0.43 +/- 0.09, P < 0.05; 72 hours: 0.67 +/- 0.08 vs. 0.45 +/- 0.09, P < 0.05) expression was more significantly increased in OPN KO mice than their matched WT mice when exposed to hyperoxia. IHC study showed higher expression of iNOS (20.54 +/- 3.18 vs. 12.52 +/- 2.46, P < 0.05) and eNOS (19.83 +/- 5.64 vs. 9.45 +/- 3.82, P < 0.05) in lung tissues of OPN KO mice at 72 hours of hyperoxia.
CONCLUSIONOPN can protect against hyperoxia-induced lung injury by inhibiting NOS.
Animals ; Hyperoxia ; genetics ; physiopathology ; Immunohistochemistry ; Lung ; metabolism ; Lung Injury ; etiology ; genetics ; metabolism ; Mice ; Mice, Knockout ; Nitric Oxide Synthase ; genetics ; metabolism ; Nitric Oxide Synthase Type II ; genetics ; Nitric Oxide Synthase Type III ; genetics ; Osteopontin ; genetics ; physiology ; Reverse Transcriptase Polymerase Chain Reaction
4.Effectiveness and safety of noninvasive positive-pressure ventilation for severe hypercapnic encephalopathy due to acute exacerbation of chronic obstructive pulmonary disease: a prospective case-control study.
Guang-fa ZHU ; Wei ZHANG ; Hua ZONG ; Qiu-fen XU ; Ying LIANG
Chinese Medical Journal 2007;120(24):2204-2209
BACKGROUNDAlthough severe encephalopathy has been proposed as a possible contraindication to the use of noninvasive positive-pressure ventilation (NPPV), increasing clinical reports showed it was effective in patients with impaired consciousness and even coma secondary to acute respiratory failure, especially hypercapnic acute respiratory failure (HARF). To further evaluate the effectiveness and safety of NPPV for severe hypercapnic encephalopathy, a prospective case-control study was conducted at a university respiratory intensive care unit (RICU) in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) during the past 3 years.
METHODSForty-three of 68 consecutive AECOPD patients requiring ventilatory support for HARF were divided into 2 groups, which were carefully matched for age, sex, COPD course, tobacco use and previous hospitalization history, according to the severity of encephalopathy, 22 patients with Glasgow coma scale (GCS) < 10 served as group A and 21 with GCS = 10 as group B.
RESULTSCompared with group B, group A had a higher level of baseline arterial partial CO2 pressure ((102 +/- 27) mmHg vs (74 +/- 17) mmHg, P < 0.01), lower levels of GCS (7.5 +/- 1.9 vs 12.2 +/- 1.8, P < 0.01), arterial pH value (7.18 +/- 0.06 vs 7.28 +/- 0.07, P < 0.01) and partial O(2) pressure/fraction of inspired O(2) ratio (168 +/- 39 vs 189 +/- 33, P < 0.05). The NPPV success rate and hospital mortality were 73% (16/22) and 14% (3/22) respectively in group A, which were comparable to those in group B (68% (15/21) and 14% (3/21) respectively, all P > 0.05), but group A needed an average of 7 cm H2O higher of maximal pressure support during NPPV, and 4, 4 and 7 days longer of NPPV time, RICU stay and hospital stay respectively than group B (P < 0.05 or P < 0.01). NPPV therapy failed in 12 patients (6 in each group) because of excessive airway secretions (7 patients), hemodynamic instability (2), worsening of dyspnea and deterioration of gas exchange (2), and gastric content aspiration (1).
CONCLUSIONSSelected patients with severe hypercapnic encephalopathy secondary to HARF can be treated as effectively and safely with NPPV as awake patients with HARF due to AECOPD; a trial of NPPV should be instituted to reduce the need of endotracheal intubation in patients with severe hypercapnic encephalopathy who are otherwise good candidates for NPPV due to AECOPD.
Aged ; Brain Diseases ; therapy ; Carbon Dioxide ; blood ; Case-Control Studies ; Female ; Glasgow Coma Scale ; Humans ; Hypercapnia ; therapy ; Male ; Middle Aged ; Oxygen ; blood ; Positive-Pressure Respiration ; adverse effects ; Prospective Studies ; Pulmonary Disease, Chronic Obstructive ; complications
5.Effects of continuous tracheal gas insufflation during pressure limited ventilation on pulmonary surfactant in rabbits with acute lung injury.
Guang-fa ZHU ; Wei ZHANG ; Hua ZONG ; Ying LIANG
Chinese Medical Journal 2006;119(17):1415-1420
BACKGROUNDPulmonary surfactant dysfunction may contribute to the development of ventilator induced lung injury (VILI). Tracheal gas insufflation (TGI) is a technique in which fresh gas is introduced into the trachea and augment ventilation by reducing the dead space of ventilatory system, reducing ventilatory pressures and tidal volume (V(T)) while maintaining constant partial arterial CO2 pressure (PaCO(2)). We hypothesised that TGI limited peak inspiratory pressure (PIP) and V(T) and would minimize conventional mechanical ventilation (CMV) induced pulmonary surfactant dysfunction and thereby attenuate VILI in rabbits with acute lung injury (ALI).
METHODSALI was induced by intratracheal administration of lipopolysaccharide in anaesthetized, ventilated healthy adult rabbits randomly assigned to continuous TGI at 0.5 L/min (TGI group) or CMV group (n = 8 for each group), and subsequently ventilated with limited PIP and V(T) to maintain PaCO(2) within 35 to 45 mmHg for 4 hours. Physiological dead space to V(T) ratio (V(D)/V(T)), dynamic respiratory compliance (Cdyn) and partial arterial O(2) pressure (PaO(2)) were monitored. After ventilation, lungs were analysed for total phospholipids (TPL), total proteins (TP), pulmonary surfactant small to large aggregates ratio (SA/LA) in bronchoalveolar lavage fluid (BALF) and for determination of alveolar volume density (V(V)), myeloperoxidase and interleukin (IL)-8.
RESULTSTGI resulted in significant (P < 0.05 or P < 0.01) decrease in PIP [(22.4 +/- 1.8) cmH2O vs (29.5 +/- 1.1) cmH2O], V(T) [(6.9 +/- 1.3) ml/kg vs (9.8 +/- 1.11) ml/kg], V(D)/V(T) [(32 +/- 5)% vs (46 +/- 2)%], TP [(109 +/- 22) mg/kg vs (187 +/- 25) mg/kg], SA/LA (2.5 +/- 0.4 vs 5.4 +/- 0.7), myeloperoxidase [(6.2 +/- 0.5) U/g tissue vs (12.3 +/- 0.8) U/g tissue] and IL-8 [(987 +/- 106) ng/g tissue vs (24 +/- 3) mN/m] of BALF, and significant (P < 0.05) increase in Cdyn [(0.47 +/- 0.02) ml.cmH2O(-1).kg(-1) vs (0.31 +/- 0.02) ml.cmH2O(-1).kg(-1)], PaO(2) [(175 +/- 24) mmHg vs (135 +/- 26) mmHg], TPL/TP (52 +/- 8 vs 33 +/- 11) and Vv (0.65 +/- 0.05 vs 0.44 +/- 0.07) as compared with CMV.
CONCLUSIONSIn this animal model of ALI, TGI decreased ventilatory requirements (PIP, V(T) and V(D)/V(T)), resulted in more favourable alveolar pulmonary surfactant composition and function and less severity of lung injury than CMV. TGI in combination with pressure limited ventilation may be a lung protective strategy for ALI.
Animals ; Insufflation ; Intubation, Intratracheal ; instrumentation ; Lung ; pathology ; Pressure ; Pulmonary Surfactants ; analysis ; Rabbits ; Respiration, Artificial ; methods ; Respiratory Distress Syndrome, Adult ; therapy ; Tidal Volume ; Trachea ; physiopathology
6.Antibiotic therapy induced red man syndrome in a patient with infective endocarditis
Kai WANG ; Sheng-Hao WANG ; Guang-Fa ZHU
The Chinese Journal of Clinical Pharmacology 2016;(4):349-350
Objective To remind the clinic to pay attention to the ad-verse drug reaction caused by the infusion of antibiotics.Methods Ret-rospective analysis of a case of one patient with infective endocarditis who was treated with vancomycin.Red rash with pruritus occurred on the face and upper limbs on the next day.The rash disappeared after anti -aller-gy and replacement of antibiotics.After one month treatment by antibiot-ics , red rash appeared again on face , limbs and chest during withdrawal.Results After anti-allergy treatment, patient was returned to normal.Measures to prevent the red man syndrome is mainly to control the infusion rate, if necessary , preventive medication given.
7.Stage I testis teratoma in adults: treatment options and recurrence factors.
Shi-miao ZHU ; Qiong PEI ; Yang TANG ; Lin-guo XIE ; Xiao-fei DAI ; Guang SUN ; Rui-fa HAN ; Jian-min WANG
National Journal of Andrology 2011;17(11):1007-1010
OBJECTIVETo study the clinical outcomes of stage I testis teratoma, including pure teratoma, and to provide information on the treatment options for this disease.
METHODSWe retrospectively analyzed 27 cases of orchiectomy for stage I testis teratoma, excluding epidermoid cyst, and investigated its recurrence associated with treatment methods and clinicopathological factors.
RESULTSFour of the 27 cases relapsed, all in the orchiectomy group and confined to the retroperitoneal region, 3 with and the other 1 without risk factors, but with no death. No recurrence was found in those treated by orchiectomy followed by chemotherapy with bleomycin, etoposide and platinum (BEP). The total rate of recurrence was 15.8%. No severe side effects were observed in the 9 patients undergoing adjuvant BEP chemotherapy.
CONCLUSIONRisk factors may increase the recurrence rate of stage I testis teratoma, while postoperative adjuvant chemotherapy can reduce it, including that of pure teratoma, though surveillance policy remains the most popular option after orchiectomy.
Adolescent ; Adult ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; pathology ; Neoplasm Staging ; Retrospective Studies ; Teratoma ; pathology ; therapy ; Testicular Neoplasms ; pathology ; therapy ; Young Adult
8.Value of preoperative barium contrast examination for the diagnosis and operative planning in gastric cancer.
Chang-jian WANG ; Guang-fa ZHAO ; Qing-guo LI ; Jing-gui CHEN ; Kai ZHU ; Ying-qiang SHI ; Hong FU
Chinese Journal of Gastrointestinal Surgery 2010;13(4):270-272
OBJECTIVETo investigate the value of preoperative barium contrast examination for the diagnosis and operative planning in gastric cancer.
METHODSClinical data of 229 gastric cancer patients were analyzed retrospectively. Lesions were divided into three parts: the cardiac, the body, and the antrum. The diagnostic accuracy of localization and the extent of tumor between gastroscopy alone and gastroscopy plus barium contrast were compared with the results of surgical findings.
RESULTSThe diagnostic accuracy of localization and the extent of tumor for gastroscopy in the cardiac, the body and the antrum cancers were 100% and 78.4%, 94.6% and 86.5%, 98.1% and 84.6%, respectively, while for gastroscopy plus barium contrast were 100% and 84.8%, 100% and 91.9%, 99.0% and 90.4%, respectively. The diagnostic accuracy of both the localization and the extent of tumor were not significantly different between gastroscopy alone and gastroscopy plus barium contrast (P>0.05). Diagnostic accuracy of the length of esophagus infiltrated by cardiac cancer in gastroscopy was 60.6%, while in gastroscopy plus barium contrast was 90.9%, which was significantly different (P<0.05). Gastroscopy plus barium contrast was more accurate in predicting the possibility of thoracotomy in cardiac cancer infiltrating the lower esophagus.
CONCLUSIONSIt is necessary to perform preoperative barium contrast examination in cardiac cancer patients, so as to identify whether the lower esophagus is infiltrated and to measure the length of lesion, which can provide evidences for making a decision of thoracotomy. For gastric body and antrum cancer, there is no indication for barium contrast examination if gastroscopy findings are satisfied.
Adenocarcinoma ; diagnostic imaging ; pathology ; surgery ; Barium ; Contrast Media ; Female ; Humans ; Male ; Middle Aged ; Radiography ; Retrospective Studies ; Stomach Neoplasms ; diagnostic imaging ; pathology ; surgery
9.Association of peripheral and central blood pressure with the alpha-adducin Gly460Trp polymorphism in a Chinese population.
Hui-feng GUO ; Yan LI ; Gu-liang WANG ; Yong-gang LU ; Huai-fa ZHOU ; Ping-jin GAO ; Ding-liang ZHU ; Ji-guang WANG
Chinese Journal of Cardiology 2005;33(7):608-612
OBJECTIVETo investigate the association of peripheral and central blood pressure with the alpha-adducin Gly460Trp polymorphism in Chinese.
METHODSWe randomly selected 6 villages from JingNing County, ZheJiang Province. We invited nuclear families to take part in our study. We measured each participant's blood pressure at the non-dominant arm by means of a standard mercury sphygmomanometer at subjects' homes. Five consecutive readings were averaged for analysis. Central blood pressures were obtained by use of SphigmoCor pulse wave analysis system. The observers administered a standardized questionnaire to collect information on smoking habits, alcohol consumption and use of antihypertensive drugs. Venous blood was sampled and the adducin genotype was determined by restrictive fragment length polymorphism (RFLP).
RESULTSFour hundred and forty-two subjects included 230 (52.0%) women, and 116 (26.2%) hypertensive patients, of whom 49 (11.1%) took antihypertensive drugs. The frequencies of alpha -adducin GlyGly, GlyTrp and TrpTrp genotypes were 21.3%, 54.5% and 24.2%, respectively. There was no association between the alpha-adducin Gly460Trp polymorphism and peripheral systolic and diastolic blood pressure and pulse pressure. However, both before and after adjustment for sex, age, age(2), body-mass index, current smoking, alcohol intake, and antihypertensive treatment, the alpha-adducin polymorphism was significantly (P < 0.02) associated with central systolic blood pressure and central pulse pressure. After adjustment, central systolic blood pressure (+/- SE) averaged 122.5 +/- 3.5, 114.1 +/- 1.5 and 109.1 +/- 1.8 mm Hg (P = 0.01) in the GlyGly, GlyTrp and TrpTrp subjects, respectively. The corresponding values for central pulse pressure were 39.4 +/- 1.3, 36.4 +/- 1.0 and 32.9 +/- 0.9 mm Hg (P = 0.002), respectively.
CONCLUSIONSIn the JingNing population, the adducin 460Trp allele was associated with lower levels of central systolic pressure and pulse pressure.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Blood Pressure ; Calmodulin-Binding Proteins ; genetics ; Child ; China ; epidemiology ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertension ; epidemiology ; genetics ; physiopathology ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Young Adult
10.Construction of fresh cervical vertebral artery determination model: influence of variant positions on vertebral artery flow
Min-Shan FENG ; Xun-Lu YIN ; Li-Guo ZHU ; Fa-Yao ZHANG ; Guang-Wei LIU ; Jia-Wen ZHAN ; He YIN ; Chun-Yu GAO ; Jian LI
Chinese Journal of Tissue Engineering Research 2018;22(15):2373-2377
BACKGROUND: As a reliable biomechanical model, human fresh isolated cervical specimens provide the basis for studying the pathogenesis of cervical vertigo from the perspective of blood flow of vertebral artery.There is a lack of an in vitro cervical model that can simulate the physiological state of the cervical vertebrae and achieve complex posture, as well as can measure the blood flow of vertebral artery. OBJECTIVE:To study the influence of variant position of human fresh isolated cervical vertebrae on the blood flow of vertebral artery in vitro through constructing the fresh specimen of cervical vertebral artery determination model. METHODS: Six human fresh isolated cervical specimens were selected for constructing the vertebral artery determination model. The pressure of human vertebra artery was simulated by pressure pump. The change of normal saline height was measured by digital motion capture system dynamically under different positions. RESULTS AND CONCLUSION: (1) Eight vertebral arteries in the six models were in good condition. (2) The vertebral artery flow under neutral position was significantly richer than that under contralateral rotation-anteflexion and ipsilateral/contralateral rotation-postexion (P <0.05). (3) The vertebral artery flow under contralateral rotation-anteflexion and rotation-postexion was significantly poorer than that under natural position, ipsilateral rotation and ipsilateral rotation-anteflexion (P < 0.05). (4) In summary, the cervical vertebral artery determination model is constructed successfully that can simulate the influence of the position on vertebral artery flow. Additionally, different positions of rotation make a different effect on vertebral artery flow.