Comprehensive evaluation and analysis of laboratory resource allocation in 14 blood stations based on entropy weight -TOPSIS method / 中国输血杂志

【Objective】 To investigate the resource allocation status of blood testing laboratories in 14 blood stations in Gansu Province, explore the impact of differences in basic conditions on the comprehensive testing ability of laboratories, so as to promote the homogenization and standardization of blood screening capacity in blood stations in Gansu and improve blood safety and effectivenes. 【Methods】 An evaluation index system of laboratory resource allocation was constructed and a question-naire was designed. The data of human resources, infrastructure and key equipment of 14 blood stations were collected. The entropy weight -TOPSIS method was used to evaluate and rank the resource allocation of 14 blood stations. 【Results】 In the comprehensive evaluation of blood testing laboratory resource allocation in 14 blood stations in Gansu, the top three were laboratories A, B and I, and the last three were laboratories G, M and J. On the whole, the main issue was unreasonable structure of human resources: most laboratories had unreasonable age structure; except for Laboratory A, there was no personnel with bachelor's degree or above in laboratories; most laboratories had not established a team with intermediate professional titles. In terms of infrastructure, the size of seven laboratories could not meet the needs of modern laboratory testing, and all eight blood stations had no spare nucleic acid laboratories nor a mutual spare laboratory with other blood stations As for the key equipment, 5 laboratories had no automatic blood grouping diagnostic instrument, 5 laboratories only had one set of enzyme immunoassay detection system, 3 laboratories had no spare equipment for the key equipment, which means if the equipment failure could not be repaired in time, the release of results would be affected. 【Conclusion】 There were significant differences in human resources, infrastructure and key equipment of blood testing laboratories in 14 blood stations in Gansu, which had a great impact on laboratory testing capacity and subsequent development. It is suggested that governments at all levels and health administrative departments optimize the input of laboratory resource allocation according to the blood collection volume of blood stations to gradually narrow the differences in resource distribution between different regions, improve the degree of laboratory automation and optimize the personnel structure, so as to build high-quality and efficient blood testing laboratories and ensure the safety of clinical blood use.

Correlation of endoscopy findings with symptoms in patients undergoing gastroscopy: a prospective study / 中华消化内镜杂志

Objective:To investigate the correlation of endoscopy findings with symptoms in patients undergoing gastroscopy.Methods:Patients who underwent gastroscopy for the first time in Renji Hospital of Shanghai Jiao Tong University School of Medicine from January to December 2017 were included in the questionnaire survey. The participants were asked to report their main symptoms of the digestive tract in details, and gastroscopy was completed within 2 weeks. Final gastroscopic diagnosis was made based on both gastroscopy and pathology, then patients were divided into the major-lesion (peptic ulcer and malignancy) group and the non-major-lesion (chronic gastritis, reflux esophagitis and others) group. The correlation of gastrointestinal symptoms with gastroscopic findings was analyzed. The risk for major gastroscopic lesions (peptic ulcer and malignant tumors) was assessed by multivariate Logistic regression analysis.Results:A total of 5 885 patients completed the questionnaire, 5 496 (93.4%) of whom completed gastroscopy. The detection rates of peptic ulcer were 12.3% (373/3 028), 12.6% (52/412), 17.9% (49/273), 9.5% (64/675) and 9.2% (102/1 108) in patients with dyspepsia, reflux, alarm, other symptoms and no symptoms, respectively, the detection rates of malignant tumors were 1.2% (36/3 028), 0.7% (3/412), 7.7% (21/273), 0.7% (5/675) and 0.4% (4/1 108), respectively in these patients. The most common symptoms was dyspepsia, accounted for 58.3% (373/640) and 52.2% (36/69) patients with peptic ulcer and malignant tumors, respectively. Alarm symptoms were found in 30.4% (21/69) patients with malignant tumors, and 15.9% (102/640) peptic ulcer patients and 5.8% (4/69) malignant tumor patients had no gastrointestinal symptoms. Compared to asymptomatic individuals, patients with dyspepsia ( P<0.001, OR=1.52, 95% CI: 1.21-1.92) and those with warning symptoms ( P<0.001, OR=2.87, 95% CI: 2.02-4.08) had significantly increased risk for major lesions (peptic ulcer and malignant tumors) detected by gastroscopy. Conclusion:Although dyspepsia and alarm symptoms are positively associated with upper gastrointestinal malignancy and peptic ulcer, they are of limited predictive value for upper gastrointestinal diseases.

A new ECG sign for sudden death: Transient prolonged QT interval following premature contraction / 中南大学学报(医学版)

Early recognition and treatment for early warning electrocardiogram (ECG) of sudden death are very important to prevent and treat malignant arrhythmia and sudden death. Previous studies have found that R-on-T and T wave alternation, and QT interval prolongation are closely related to malignant arrhythmia or sudden death, which are included in the critical value of ECG.By analyzing the ECG characteristics of 4 patients with sudden death, we found that although the causes of the patients were different, there were transient prolongation of QT interval after premature contraction in 12 lead ECG, followed by malignant arrhythmia or sudden death. Thus, we thought that the transient prolongation of QT interval after premature contraction had a high value for warning malignant arrhythmia or sudden death. This phenomenon should be paid enough attention to reduce the risk of sudden death.

Investigation and analysis of emergency management in private dental clinics in Zhangjiakou city / 中华医院管理杂志

Objective:To investigate the first aid management, doctors′ command of first aid knowledge of private dental clinics in Zhangjiakou city and the influencing factors, for references in strengthening the emergency management level of these clinics and the emergency capacity of doctors.Methods:Customized questionnaire was used in a survey of 192 doctors in 64 private dental clinics in the city from June to September in 2019, and 172 valid responses were recovered. The questionnaire covered such aspects as basics of these doctors, first-aid training received and first-aid knowledge command, as well as first-aid management of these clinics. Enumeration data were indicated with frequency number and percentage, while measurement data were indicated with ± s. Univariate analysis of first-aid knowledge scoring was made with Mann-Whitney U test. Results:The first-aid knowledge of dental doctors in private dental clinics in Zhangjiakou was poor, scoring 51.8±14.6 points in general, and those scoring above 60 points accounted for merely 19.3%. The proportion of dental doctors participating in first-aid knowledge training and emergency drill was low. Only 7.8% of the private dental clinics in Zhangjiakou had complete rescue equipment. Scoring of the dental doctors participating in emergency drill and emergency knowledge training was higher than those without such experiences, with the difference being statistically significant( P<0.001). Conclusions:Private dental clinics should regularly arrange their staff to participate in first-aid training and emergency drills; prepare an emergency plan, equip rescue facilities and first-aid medication; dental doctors should strengthen their study of first-aid knowledge.

The comparison of fully-covered self-expandable metal stent and plastic stent on the treatment of post liver transplantation anastomotic biliary stricture / 中华肝胆外科杂志

Objective:To investigate the effectiveness and safety of fully-covered self-expandable metal stent (FCSEMS) with plastic stent over the treatment of post liver transplantation anastomotic biliary stricture (AS).Methods:The clinical data of AS patients after liver transplantation admitted to the First Affiliated Hospital of Sun Yat-sen University from January 2014 to April 2018 was collected for the retrospective study. According to different implanted stents, patients were divided into FCSEMS group and plastic stent group. The general information of the two groups of patients, surgical success rate, postoperative complications, the number of endoscopic retrograde cholangiopancreatography (ERCP), the number of indwelling stents and other indicators were compared and analyzed.Results:A total of 54 patients were enrolled, including 41 males and 13 females, with a median age of 48 (34-65) years. A total of 23 cases were included in the FCSEMS group and 31 cases were included in the plastic stent group. The overall technical success rate of the operation was 98.3% (176/179). In the FCSEMS group, there were 21 patients recovered and 2 patients were relieved; in the plastic stent group, 29 patients were recovered, 1 case was relieved, and 1 case failed. There were no statistically significant differences in the efficacy and complication rate between the two groups (all P>0.05). The median stent indwelling time, ERCP times, and the number of indwelling stents in the FCSEMS group were 5.9 months, 2 times, and 1, respectively, and in the plastic stent group were 9.5 months, 4 times, and 8 respectively. There were statistical differences between the two groups (all P<0.05). Conclusions:FCSEMS for treatment of AS showed less duration of stenting, numbers of stents and endoscopic treatment sessions with the similar efficacy as plastic stents. It’s indicated that it’s necessary to pay attention to the probability of stent migration and pancreatitis.

Levels of D-dimer, fibrinogen, and fibrinogen degradation product in patients with acute chest pain / 中南大学学报(医学版)

To determine the relationship among the levels of D-dimer, fibrinogen (FIB), and fibrin degradation products (FDP) in acute fatal chest pain patients.
 Methods: We retrospectively analyzed the patients with aortic dissection (AD), pulmonary embolism (PE) or acute myocardial infarction (AMI) from May 1, 2017 to April 30, 2018. All the patients had a chest and/or back pain. Levels of D-dimer, FIB, and FDP were examined at the time of admission, and the patients were further diagnosed by computed tomography angiography (CTA) or percutaneous transluminal coronary intervention (PCI). The levels and negative rates of D-dimer, FIB, and FDP in patients with AD, PE, and AMI were compared.
 Results: A total of 234 patients were enrolled, including 95 AD, 98 AMI, and 41 PE. In the AD group, the AMI group and the PE group, the negative ratios of D-dimer were 13.68%, 70.41% and 4.88%, respectively; the negative ratios of FDP were 24.21%, 81.63% and 24.39%, respectively. There was no significant difference in negative rates of D-dimer and FDP between the AD group and the PE group (all P>0.05), but negative rates of D-dimer and FDP were significantly higher in the AMI group than those in the AD group and the PE group (all P0.05). However, there were no significant difference in the FIB levels among 3 groups (all P>0.05). The FDP level in the AMI group was significantly lower than that in the AD group or in the PE group (both P0.05).
 Conclusion: The levels of D-dimer and FDP are increased in AD and PE patients and may be as the useful biomarkers for the high-risk chest pain patients but not for AMI.

Early progression of mild ischemic stroke in the elderly / 中华老年心脑血管病杂志

Objective To study the risk factors for early neurological deterioration (END) in elderly mild ischemic stroke (MIS) patients.Methods Two hundred MIS patients with their national institute of health stroke scale (NIHSS) score≤3 admitted to the Beijing Zhongguancun Hospital from June 2013 to July 2017 were divided into progressive ischemic stroke group (n=52) and nonprogressive ischemic stroke group (n =148).Their past medical history,clinical symptoms,laboratory testing parameters,and imaging data were compared and analyzed.Results The incidence of diabetes mellitus and ischemic stroke,abnormal circadian rhythm of blood pressure,NIHSS score,serum hs-CRP level,incidence of blood vessel stenosis or occlusion,multiple lesions and watershed cerebral infarction were significantly higher in progressive ischemic stroke group than in non-progressive ischemic stroke group (P ＜ 0.05,P ＜ 0.01).Multivariate logistic regression analysis showed that hs-CRP,abnormal circadian rhythm of blood pressure,blood vessel stenosis or occlusion,multiple lesions,and watershed cerebral infarction were the independent risk factors for END in elderly MIS patients (OR=3.113,95％CI:1.483-6.532,P=0.003;OR=2.724,95％CI:1.291-5.749,P=0.009;OR=3.499,95％CI:1.557-7.860,P=0.002;OR =2.794,95％CI:1.359-5.744,P=0.005;OR=3.843,95％CI:1.752-8.426,P=0.001).Conclusion hs-CRP,abnormal circadian rhythm of blood pressure,blood vessel stenosis or occlusion,multiple lesions and watershed cerebral infarction are the independent risk factors for END in elderly MIS patients.

Factors influencing early progression of acute solitary pontine infarction / 中华老年心脑血管病杂志

Objective To analyze the factors influencing the early progression of acute solitary pontine infarction (ASPI).Methods 146 patients with head MRI-confirmed ASPI were divided into neurological deficit progression group (A group,n=30) and non-neurological deficit progression group (B group,n=116) according to their NIHSS score.Their clinical and imaging characteristics were analyzed.Results The acute neurological dysfunction was severer,the outcome was poorer,the hospital visiting time was longer,the infarction size was larger in A group than in B group.The incidence of infarction involving ≥2 layers and basilar artery stenosis,the stenosis rate of basilar artery stenosis and other intracranial vessels,and the percentage of NIHSS and mRS score at discharge were significantly higher in A group than in B group (76.6％ vs 37.9％;30.0％ vs 7.7％;46.6％ vs 6.0％;50.0％ vs 21.5％;80.0％ vs 15.5％,P＜0.05,P＜0.01).Conclusion The progression is faster and the infarction size is larger in ASPI patients than in cerebral stroke patients,which are related with the involved layers,stenosis of basilar artery and other intracranial vessels,and can thus play an important role in judging the early outcome of ASPI patients.

Successful treatment in a patient with sudden cardiac arrest due to anomalous left coronary artery arising from pulmonary artery / 中南大学学报(医学版)

To enhance the understanding of the left coronary artery originating from the pulmonary artery,we report a case of sudden cardiac arrest during exercise.After successful cardiopulmonary resuscitation,the patient underwent echocardiography and selective coronary angiography,and the disease was firmly diagnosed.Consequently,a thoracic surgery was performed.During the operation,the left coronary artery was transplanted to the root of the aorta and the pulmonary valve and artery were reconstructed.Finally,the surgery was successful.

Effects of minocycline on cerebral blood flow and endothelin-1 protein expression in ischemic penumbra of rats with focal cerebral ischemia reperfusion / 重庆医学

Objective To investigate the effects of minocycline on regional cerebral blood flow and the expression of endothe-lin-1(ET-1) in ischemic penumbra of rats after focal cerebral ischemia reperfusion injury .Methods Middle cerebral artery occlusion (MCAO) with nylon suture was used to be established as focal cerebral ischemia reperfusion mode (I/R) ,a total of 35 male Spra-geue-Dawley rats were randomly divided into 3 groups :sham-operated group(n= 10) ,model group(n= 15) and minocycline group (n= 15) .After 24 hours of I/R ,The neurobehavioral function of rats was evaluated by Longa′s test ,the regional cerebral blood flow in ischemic penumbra was assessed with laser-Doppler flowmetry .After 6 and 24 hours of I/R ,the expression of ET-1 in peri-in-farct region was measured by both immunohistochemistry and radioimmunoassay .Results Compared with sham-group ,the Longa′s test scales ,ET-1 protein expression increased and the rCBF decreased in ischemic penumbra in model group(P< 0 .05) .the Longa′s test scales ,ET-1 protein expression decreased and the rCBF decreased in ischemic penumbra in minocycline group when compared to the model group(P< 0 .05) .Conclusion Minocycline could promote neurological functional recovery of rats after MCAO ,which might be attributed to increase the cerebral blood flow and regulate the endothelin-1 expression in ischemic penumbra .

Design and Implementation of Embedded Telemetry System for Amperometric Detection / 分析化学

A new micro embedded telemetry system was developed for the amperometric sensing detection. Its output voltage range was ±0. 5 V and resolution was<1 mV. The current acquisition range was ±1μA and the minimum resolution was 0. 2 nA. This telemetry system was designed based on microprocessor ADuCM360, including a potentiostat, a current detection module and a radio module. And the size was only 24 mm × 13 mm × 11 mm. The computer software written in LabVIEW language was used for data storage and display. In order to verify the accuracy and reliability of this system, an electrical performance test was performed. The current response for ascorbic acid with different concentration was recorded by using the telemetry system. The potential of working electrode was set as 30 mV, and the current response of ascorbic acid electrode had a good linear relationship with its concentration within the concentration range of 50-300 μmol/L. Linear equation was I(nA) = 2. 98CAA(μmol/L)-137. 39, and linear correlation coefficient R2=0. 984. Moreover, the applicability of the instrument in the study for living animals was explored by using the cerebral ischemia as model.

Comparative study of six operations for the treatment of upper urinary tract carcinoma / 中国癌症杂志

Background and purpose:Radical nephroureterectomy can be performed in a variety of ways, and each method has its advantages and disadvantages. It still remains controversial for choosing the surgical methods. In this study, we chose six surgical methods and investigated the safety and efficacy of different methods in treating upper urinary tract carcinoma.Methods:We retrospectively analyzed 135 patients with upper urinary tract transitional cell carcinoma who underwent operations in our hospital from Jan. 2002 to Oct. 2013, and compared the data of six different operations in-cluding operating time, volume of bleeding, time of bowel function recovery and incidence of bladder carcinomas.Results:The operations were successfully completed in groups A and B. Five cases in group C were transferred into group A be-cause of failing to pull the nub of the ureter. Two cases in group D were transferred into group A because of failing to pull the nub of the ureter. Three cases in group E were transferred into group D and 1 case was transferred into group A because of adhesion or bleeding. One case in group F was transferred into group A because of bleeding. There was no statistically significant difference in survival rates among six operations.Conclusion:Six operations are all safe and effective for the treatment of upper urinary tract carcinomas. Each method has its advantages and disadvantages. We should choose differ-ent methods according to particular cases.

A case of repeated unconsciousness caused by excrescence locking bicuspid aortic valve / 中南大学学报(医学版)

We received a patient who repeated unconsciousness due to excrescence locking bicuspid aortic valve. He experienced unconsciousness and treatments with anti infection, surgical operation, valve replacement and recovery. It was a rare case, which made us realize that the heart color Doppler ultrasound should be regularly performed in patients with aortic valve abnormalities. Once patients were found to have infective endocarditis combined with the valve vegetations, they should be formally treated as soon as possible.

Anxiety status and influential factors in patients with infertility / 中南大学学报(医学版)

OBJECTIVE@#To investigate the anxiety status of infertile patients and the influential factors.
@*METHODS@#A questionnaire survey was performed in 306 infertile patients, who were consulted in Xiangya Hospital, Central South University, and Productive and Genetic Hospital of CITIC-Xiangya from June, 2013 to June, 2014. A self-designed questionnaire and general information on the anxiety due to infertility were used in the investigation.
@*RESULTS@#The anxiety incidence for the participants was 61.4%. The single factor analysis showed that some information about the patients, including ages, marriage age, duration of infertility, number of reproductive technological intervention, infertility sources, the cost of treatment and the number of infertility clinic visits, significantly affected the anxiety of infertile patients (P<0.05). The multivariate analysis showed that the number of reproductive technological intervention and infertile causes was related to the anxiety of infertile patients. Among them, the number of reproductive intervention more than 6 times was the risk factor for the low score of anxiety while the infertile causes from both spouses were the protective factor for low scores of anxiety.
@*CONCLUSION@#Infertility treatment are of complexity and long duration with the relatively low cure rate, which may cause and aggravate the patient's psychological burden, leading to the anxiety. As a result, infertility patients were the high-risk groups for anxiety symptoms.

Clinical and imaging features of precheron artery infarction / 国际脑血管病杂志

Objective To investigate the imaging and clinical features of Percheron artery infarction.Methods The clinical manifestations,imaging data,treatment,and prognosis of 10 patients with Percheron artery infarction were analyzed.Results All 10 patients had acute onset and had different degrees of consciousness disorders,including vertical gaze palsy (n =3),language disorder (n =3),limb weakness (n =6),and memory impairment (n =4).MRI showed bilateral thalamus infarction.Midbrain V-sign in one patient was observed.Cerebral angiography revealed that one patient had Percheron artery infarction.All 10 patients were improved and discharged,but left with varying degrees of sequelae.Conclusions Percheron artery infarction is rare in clinical practice.The diagnosis is mainly based on clinical manifestations and imaging examinations.Cerebral angiography can diagnose the disease.

Change of TRAF6 expression in rat cerebral ischemia reperfusion injury / 重庆医学

Objective To investigate the potential role of tumor necrosis factor receptor-associated factor-6(TRAF6)in the rat cerebral ischema-reperfusion injury.Methods 40 healthy adult SD rats were divided into 5 groups(n=8)according to the ran-dom control principle:sham operation group,ischemia group,reperfusion 2 h group(R2 h),reperfusion 12 h group(R12 h)and reperfusion 24 h group(R24 h).The rat cerebral ischemia-reperfusion injury model was constructed.The change of TRAF6 expres-sion was examined by RT-PCR and Western-blot.Then,the immunohistochemistry was adopted to locate the TRAF6 protein.Re-sults Compared with the sham group,the expression of TRAF6 in the ischemia group and the R2 h,R12 h and R 24 h groups was obviously increased,but the difference had no statistical significance (P <0.05).TRAF6 was mainly located in the cytoplasm of neuronal cells.Conclusion Activated TRAF6 is involved in the brain cell death induced by cerebral ischemia-reperfusion.

Design and Construction of an Embedded Telemetry System for Potentiometric Sensors / 分析化学

A new embedded telemetry system for potentiometric sensors was developed. The system consisted of a transmitter unit, a receiver unit and a personal computer ( PC) . The transmitter unit included a current amplifier, a∑-Δanalog-to-digital converter ( ADC) , a microcontroller unit ( MCU) and a radio module. The receiver unit was composed of a radio module, a microcontroller unit and a serial-to-USB converter module. The receiver unit was connected to an upper computer via a universal serial bus ( USB ) . The embedded software written in C language controlled the signal acquisition and transmission. The computer software written in LabVIEW language was used for data storage and display. The range of the acquisition voltages was from-1. 17 V to +1. 17 V. In order to verify the accuracy and reliability of this system, a control experiment had been done with this system and a digital multimeter. Moreover, a response test of acidity changes had been done with the self-made H+ selective electrode. The results showed that the accuracy of this system could be up to 0. 1 mV and it had strong anti-noise ability. The square of the linear correlation coefficient of the response of the changes in pH values was 0 . 998 . The curve of the results measured by this system was consistent with that measured by the commercial electrochemical analyzer. The system was built with standard hardware components and the size of the transmitter unit was only 29 mm×14 mm×11 mm. It can be easily used for remote and real-time detection for the potentiometric sensor.

Morphological typing of the middle cerebral artery M1 segment by magnetic reso-nance angiography / 北京大学学报(医学版)

Objective:To study the morphology of middle cerebral artery ( MCA ) M1 segment .Me-thods:We selected the MRA data of 794 MCA (400 of the left side and 394 of the right side ) from Ja-nuary 1, 2011 to June 30, 2011 consecutively and analyzed the morphology of the MCA M 1 segment in axial, anteroposterior and lateral view , measured the length of the M1 segment, and analyzed the simila-rity of the left and right side M1 segment morphology .Results:In axial, anteroposterior and lateral view , the MCA M1 segment showed C-shape >L-shape >S-shape .In axial view , it was about 373 ( 47%) M1 segment performance for the C-shape, of which 340 (42.8%) M1 segments showed bowing to the dorsal side, only 33 (4.2%) M1 segments showed bowing to the ventral side .In anteroposterior view, it was about 322 (40.6%) M1 segments of the performance of the C-shape, of which 262(33.0%) M1 segments showed a bowing to the superior , 60 (7.6%) showed bowing to the inferior .The similarity of the left and right MCA M1 segments was 27.2% (114/419) in axial view and 42.7% (179/419) in anteroposterior view.It was more similar in anteroposterior view than in axial view .Along with the increase of age, in the axial view, L-shape converted to C-shape very obviously, but only mildly elevated in S-shape .In anteroposterior view , the L-shape converted to the C-shape or S-shape along with the increase of age.Conclusion:The different morphology of MCA M1 segment in axial and anteroposterior view may be involved in the development of intracranial atherosclerosis .

Effects of minocycline on neurite outgrowth of PC12 cells following oxygen glucose deprivation / 重庆医学

Objective To investigate the effects of minocycline on cell viability and neurite outgrowth of pheochromocytoma cells (PC12) after oxygen‐glucose deprivation(OGD) injury .Methods PC12 cells were exposed to OGD insult for 2 ,4 ,6 ,8 h to estab‐lish a cerebral ischemia model in vitro .High‐differentiated PC12 cells were cultivated and randomly divided into three groups :con‐trol group ,OGD group and various doses of minocycline(0 .1 ,1 .0 ,10 .0 μM) treated group .24 h after OGD‐reperfusion ,PC12 cells viability was assessed by CCK‐8 assay ,the neurite was labeled with MAP‐2 by immunofluorescence and neurite length was meas‐ured by the Image‐Pro Plus 7 .0 software ,GAP‐43 protein expression was determined by Western blotting .Results Compared to the OGD groups ,minocycline induced a concentration‐dependent increase in cells viability [(46 .1 ± 2 .9)% vs .(77 .0 ± 2 .5)% ,P<0.01],improvedneuriteoutgrowthandincreasedtheexpressionofGAP‐43proteininPC12cellsafterOGDinjury([(0.34±0.04) vs .(2 .11 ± 0 .10) ,P<0 .01] .Conclusion Minocycline could protect against oxygen glucose deprivation injury and promote neurite outgrowth .This finding suggests minocycline may be a novel therapy for cerebral ischemia .

Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze potential mutation of chloride channel 7(CLCN7) gene in a patient with autosomal dominant osteopetrosis II (ADO II).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and 100 healthy subjects. The DNA was used as template of polymerase chain reaction (PCR) to amplify the exons of CLCN7. Then the PCR products were sequenced to detect the mutation.</p><p><b>RESULTS</b>A novel heterozygous deletional mutation (c.2460delA) was detected in exon 25 of the CLCN7 gene in the patient, which has resulted in substitution of Gly residue for Arg at position 784 of the CLCN7 protein and caused frame shift of the following 28 amino acids (Arg784GlyfsX29). The same mutation was not found in the healthy subjects.</p><p><b>CONCLUSION</b>The ADO II in the patient probably results from a Arg784GlyfsX29 mutation in the CLCN7 gene.</p>