OBJECTIVE: To analyze the clinical features and variants of ABCD1 gene in a Chinese pedigree affected with X-linked adrenoleukodystrophy. METHODS: Clinical data of the proband were collected and analyzed. Potential variant of the ABCD1 gene were analyzed by PCR and Sanger sequencing of the proband, his parents and 100 unrelated healthy individuals. RESULTS: The prominent features of the proband included cerebellar and brainstem lesions, along with increased serum level of very-long chain fatty acids. He was found to harbor a hemizygous c.1509delG (p.L504Sfs*54) variant of the ABCD1 gene, for which his mother was heterozygous. The same variant was not detected in his father and 100 healthy controls. CONCLUSION X-linked adrenoleukodystrophy has a variety of clinical manifestations. Discovery of the c.1509delG (p.L504Sfs*54), as a novel pathogenic variant of the ABCD1 gene, has enabled diagnosis and genetic counseling for this pedigree.
Adrenoleukodystrophy/genetics* ; Asians/genetics* ; China ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Pedigree

Objective To investigate the effect of complement C3a on mouse podocytes phenotype transformation.Methods Purified C3a recombinant protein was used to stimulate mature mouse podocytes.The expression of the mature podocyte markers synaptopodin,podocin,nephrin,CD2-associated protein (CD2AP) and the mesenchymal cell markers fibroblast specific protein 1 (FSP-1),α-smooth muscle actin (α-SMA) were detected by RT-PCR,Western blotting,immunochemistry and immunofluorescence,respectively.Some podocytes were transfected with integrin-linked kinase (ILK) siRNA before the administration of C3a,the expression of nephrin and α-SMA were accessed by Western blotting,and the expression of Snail and α-actinin 4 were accessed by Western blotting and immunochemical method.The migration ability of podocytes was observed by scratch test.Results Immunocytochemistry and immunofluorescence analysis showed that synaptopodin,podocin,nephrin,CD2AP were highly expressed by mature mouse podocytes.The expression of these podocyte markers could be markedly inhibited after 24 h of C3a (0.1 μmol/L) treatment,and accompanied by the induction of mesenchymal markers FSP-1 and α-SMA.Compared with control group,the mRNA levels of synaptopodin,podocin,CD2AP and nephrin were significantly repressed by the administration of C3a in a dose-dependent manner,whereas the transcription of FSP-1 and α-SMA were remarkably up-regulated by C3a treatment (P ＜ 0.05,respectively).Western blotting analysis also confirmed the decrease of synaptopodin,podocin,nephrin and CD2AP protein and the increase of FSP-1 and α-SMA protein were closely depend on the C3a concentration (P ＜ 0.05,respectively).To further assess the downstream of C3a,some podocytes were transfected with ILK siRNA before the administration of C3a.Compared with C3a group,the protein levels of nephrin and α-SMA were significantly changed by the administration of ILK siRNA (P ＜ 0.05,respectively).The expression of α-actinin 4 and Snail induced by C3a were inhibited by ILK knockdown (P ＜ 0.05,respectively),accompanied by a decline of cell migration potency.Conclusion Complement fragment C3a can induce transformation of mouse podocytes to mesenehymal cells,and ILK signaling pathway is involved in this cell type transformation.

Objective To establishe the reference range of low hemoglobin density (LHD ％) of health population in Humen District of Guangdong,and discuss the clinical application value.Methods Randomly selected from January 2015 to September 2016 in Humen Hospital of Dongguan City physical examination of 1 650 cases of healthy people as control group,and selected the same period by the clinical diagnosis of iron deficiency anemia (iron-deficiency anemia,IDA) group,67 cases of patients with IDA Sysmex XT-1800i fully automatic blood analyzer were used respectively to detect blood routine,and then based on the average haemoglobin concentration (mean corpuscular hemoglobin concentration,MCHC),calculate the LHD％,and the calculation results were analyzed.Results The control healthy crowd LHD％ value was 2.41％ ± 0.85 ％,95％ reference range was 0.74 ％ ～4.08％,male was higher than the female,the difference was statistically significant (t =3.209,P＜0.05).IDA patients before treatment LHD％ was 30.97％ ± 18.65％,significantly higher than the control group,the difference was statistically significant (t=19.536,P＜ 0.01),and with the level of hemoglobin (Hb) showed a negative correlation (r=-0.4313).LHD％ values after treatment in patients with IDA group were significantly lower,but the recovery speed was slower than the Hb and MCHC.By ROC curve analysis,when the cut-off of LHD％ value was 4.10％,the LHD％ for IDA early diagnostic sensitivity of 96.78％,specificity of 100％.Conclusion Established the reference range of low hemoglobin density (LHD ％) of healthy population in Humen district of Guangdong,and LHD％ is IDA good indicator of early diagnosis and curative effect of dynamic monitoring.

Objective To survey the status and influence factors of radiology department nurses self-protection behavior. Methods The radiology department nurses′self-protection behavior questionnaire compiled by the researchers were used to conduct a questionnaire survey of 100 nurses in different grade hospitals. Results Scores of the item body fluid of patients with contact contaminated were wearing glovesof second-class hospital and third-class hospital were (3.695±0.73) points and (3.73±0.74) points, and there was no statistically significant different between them (P> 0.05). The other items about self-protective behavior of nurses from different levels of hospitals had some differences (t=-4.24-2.43, P<0.05). Conclusions Self-protective behavior of radiology department nurses is affected by many factors. Nursing managers should take effective measures to improve nurses′self-protective consciousness and ability.

OBJECTIVE:To systematically review the efficacy and safety of mizolastine combined with H2 recepter antagonists in the treatment of chronic urticaria,and provide evidence-based reference for the clinical treatment. METHODS:Retrieved from PubMed,Cochrane Library,EMBase,CBM,CJFD,etc.,randomized controlled trials (RCT) or QRCT about mizolastine com-bined with H2 recepter antagonists(test group)versus mizolastine alone(control group)in the treatment of chronic urticaria. After quality evaluation and data extract,Meta-analysis was conducted by using Stata 12.0 statistics software. RESULTS:A total of 12 RCT were included,involving 1 188 patients. Results of Meta-analysis showed the effective rate [RR=1.23,95%CI(1.16,1.31), P<0.001] in test group was significantly higher than control group,subgroup analysis showed the the efficacies of different combi-nation of mizolastine and other drugs were significantly better than control group;there was no significant difference in the inci-dence of adverse reactions between 2 group[RR=1.01,95%CI(0.71,1.44),P>0.05]. CONCLUSIONS:The effective rate of mizo-lastine combined with H2 recepter antagonists is significantly higher than mizolastine in the treatment of chronic urticaria,with bet-ter safety. Due to the limit of methodological quality and sample size,it remains to be further verified with more rigorously de-signed and long-term follow-up of large-scale RCT.

Aim To observe the effects of simvastatin on PPARγ and p65 subunit of NF-κB and to invest the mechanism of simvastatin preventing hypertrophy and keeping cardiac function.Methods 24 rabbits were divided into 4 groups.Rabbits received sham operation as health control in group I. In other groups, aortic regurgitation and coarctation of ascending aorta were operated in rabbits.Rabbits received no drugs in Group Ⅱ. In group Ⅲ, rabbits were given simvastatin 5 mg·kg~(-1)·d~(-1) after the operation for 8 weeks. In group Ⅳ, rabbits were given simvastatin 5 mg·kg~(-1)·d~(-1) after 4 weeks of operation for 4 weeks. At the beginning and the end of the experiment, left ventricular end diastolic pressure (LVEDP) was measured with catheter. At the end of the experiment, heart weight (HW), left ventricular weight (LVW), body weight (BW), heart weight/body weight radio (HW/BW radio), left ventricular weight/body weight radio (LVW/BW radio) were measured.The PPARγ mRNA expression was analyzed by RT-PCR. PPARγ and p65 protein expression in cardiomyocyte nuclear were analyzed through Western blot. The activity of p65 was analyzed with EMSA.Results The HW, LVW, HW/BW were significantly decreased in the early and late treatment group than in CHF group(P<0.05,P<0.01). The LVW/BW was significantly decreased inearly treatment group than in CHF group, too (P<0.01). The LVEDP was significantly decreased in the early and late treatment group than in CHF group (P<0.01). The mRNA and protein of PPARγ significantly fell in CHF heart (P<0.01). The activity and protein expression of p65 were significantly increased in CHF heart (P<0.01). Simvastatin increased the mRNA and protein expression of PPARγ and decreased the activity and protein expression of p65 (P<0.01).Conclusions Simvastatin inhibits the cardiac hypertrophy and improves cardiac function. The mechanism of simvastatin on cardiac remodeling and function relates to the increase of PPARγ expression and preventing the NF-κB activation.

Objective To explore the diagnosis value of ultrasound-guided COre needle biopsy(CNB)and frozen sectionin breast cancer.Methods There were 41 cases of breast tumor which were suspicious with ultrasonography,and using Bard automatic biopsy device was applied for percutaneous puncture by ultrasound-guided in breast neoplasms.Tissue samples were harvested for frozen soetion pathologic examination.compared with 42 clinical cases of the turnour which suspicious with ultrasonography were excised in operation room(B group)during the same time.Results The outcome of frozen sections were finished in 30～40 miutes.Thirty-nine cases were diagnosed to be malignant,36 cases were infiltrated ductal carcino and 3cases were infiltrated lobular carcinoma,two cases were severely non-type hyperplasia the sensitivity of sonographically guided CNB for the diagnosis of breast cancer was 95.1%.one operation was finished in 60 to 120 minutes,the average is 68.19±12.41 minutes.In group B,sensitivity of diagnosis of breast cancer was 97.6%(P＜0.05).One operation was finished in 120 to 200 minutes,the average was127.88±11.50 minutes(P＜0.05).Conclusion It can achieved higHy diagnostic rate,and have benefit of setting down the operations program and the operating time was curtailed when breast cancer was utrasound-guided by CNB and examinede with frozen section.

Objective To explore an effective and viable way to establish small-for-size liver transplantation model in rats.Methods Male Lewis rats were used as donors and recipients,the grafts were implanted according to Kamada's 2-coff method.Animals were divided into the following groups:Group I (n=28):30% size graft liver transplantation using a median lobe graft,with left lobe,right lobe,caudate lobe and triangle lobe removed in situ;Group Ⅱ (n=36) :30% size graft liver transplantation using a median lobe graft,with an improved technic of lobe resection.7-day survival rat and the technical complications including bleeding,IVC or portal vein stricture and bile leakage were compared between the groups.Results Compared to the Group Ⅰ,the incidence of IVC stricture was significantly decreased in the Group Ⅱ.Other complications showed no significant difference between the two groups.No significant difference were observed in the 7-day survival rate between the two groups(33%,9/28 vs 60%,21/36),( X2 = 0.272,P ＞ 0.05 ),though Group Ⅱ had more survivors 7 days after liver transplantation.Conclusion With improved method of lobe resection,more effective and viable 30% small-for-size rat liver transplantation model can be established.

Objective To explore the early diagnosis of lower extremity deep venous thrombosis (LDVT)and evaluate the therapeutic effect of anticoagulant therapy in hospitalized patients with acute ischemic stroke. Methods　According to Wells model for suspecting lower extremity deep venous thrombosis,patients with suspected LDVT were confirmed by compression ultrasonography. If the patients diagnosed with LDVT had no contraindications to anticoagulant therapy,they were treated with low molecular weight heparin(LMWH)subcutaneous injection and oral warfarin at the same time.The dosage of oral warfarin was determined by Roberts'age adjusted warfarin loading protocol.LMWH was stopped when the patients'international normalized ratio(INR)was 2.0～3.0 for two consecutive days. Results From January 2003 to August 2007,2067 cases with acute ischemic stroke were admitted to the department of neurology in Huizhou Municipal Central Hospital including 18 cases with LDVT and the incidence was 0.9%.The patients with LDVT all had paralytic extremities including 13 left legs and 5 right legs with deep vein thrombosis.All the 18 cases were treated by anticoagulant including 17 cases with oral warfarin treatment for 3 months.Symptoms in all LDVT patients were eliminated.12 cases had been observed for one year and 5 cases for three months after they stopped taking warfatin.There were no patients with pulmonary thromboembolism and LDVT recurrence. Conclusions　By using Wells model for suspecting LDVT,patients with acute ischemic stroke-complicated LDVT can be timely diagnosed.The goal of prompt and enough anticoagulant can be achieved according to Roberts'age adjusted warfarin loading protocol.Because of racial difference,population difference and other unknown factors,the incidence of acute ischemic stroke patients with complicated LDVT is much lower in Huizhou.It suggests that it should be unnecessary to use LMWH in patients with acute ischemic stroke to prevent LDVT in Huizhou.

OBJECTIVE A surveillance study was performed for nosocomial infections in order to investigate the change in antimicrobial resistance of Klebsiella pneumoniae,especially the strains isolated from 1999 to 2004.METHODS K-B test was used for the antibiotics susceptibility test and the results were read based on National Committee for Clinical Laboratory Standards(NCCLS) of the USA.The situation of ESBLs-producing strains of K.pneumoniae was investigated.RESULTS Totally 326 K.pneumoniae strains showed the highest susceptibility to imipenem.Ceftazidime,cefepime,and cefoperazone/sulbactam also showed excellent activity against K.pneumoniae.The prevalence of ESBLs from 326 strains was 20.2%.CONCLUSIONS It is important to study the drug resistance in nosocomial infections by K.pneumoniae.