Objective To detect the steroid sulfatase (STS) gene mutation in a Chinese pedigree with X-linked ichthyosis (XLI). Methods Genomic DNA was extracted from the peripheral blood of 3 affected patients and unaffected members in this family and 50 unrelated healthy volunteers followed by the amplification of the exon 1 and exon 10 of STS gene by PCR. Results Complete deletion of the exon 1 to 10 of STS gene was detected in all the patients in this pedigree with XLI, while no mutation was found in this gene in unaffected members of this family or normal human controls. Conclusion The complete deletion of STS gene is likely to be the main cause of the phenotype of XLI in this family.

Objective To study the relationship of urine RBC morphology between UF-100 urine sediment analytic instrument andphase contrast microscope.Methods The UF-100 urine sediment analytic instrument to analyze 500 urine specimens and study the relation-ship of urine RBC morphology between urine sediment analytic instrument and phase contrast microscope.Results The according perceptionof Normocytic,Microcytic and Non-classified RBC between phase contrast microscope and UF-100 urine sediment analytic instrument RBC-info are 91.4%,94.4%,83.3% respectively,the according perception between phase contrast microscope and RBC-P70Fsc are 94.9%,95.7%,94.7% respectively,and the according perception between phase contrast microscope and RBC Fsc-DW are 84.4%,86.8%,90.5% respectively,the specificity of UF-100 and phase contrast microscope in glomerular hematuria and non-glomerular hematuria are84.3%,88.1% and 83.3%,87.9% respectively.Conclusion The results show that the UF-100 urine sediment analytic instrument issimply operating,fast and high accurate,and which can instruct clinical dignose,therapy and prognosis judgement.

Objective To analyze the manifestation,reason,the processing method of the steel wire implantation with the sereotactic mammography to improve the accuracy of the preoperative positioning.Methods Seventy-nine cases which got the stereotactic steel wire implantation.In 96 lesions, 13 had steel wire displacement.Among them,5 cases got steel wire displacement during the sereotactic process,5 cases got steel wire displacement after the stereotactic process,2 cases got steel wire displacement during the operation,one case did not show the calcification on the postoperative radiography.Results The steel wire displacement occurred in 5 cases during the stereotactic process came from the patients and doctors respectively and the repositioning was needed.The steel wire displacement after the stereoscopic positioning was attributed to the overdose injection of local anesthesia,which led to the mismatch between the depth of Z axis of the mammary gland and the actual depth the computer given,the incorrect method for needle placement,and,neglecting whether the steel wire have got the lesion anchored when pulling out the needle set of steel wire hood,besides,these three kinds of instances above were all exaggerated by the accordion effect.For the displacement within 2 cm,the lesion can be excised toward the pathological change direction according to the position that steel wire prompted and re-place the second steel wire,putting the J-shaped steel wire into the needle hood and taking it out of the body.After repositioning,2 cases had the steel wire prolapse during operation,which resulted from the over-lifting of the steel wire.After placing the steel wire, the radiologist should give an accurate description on the depth and direction to the surgeon and the notch should be taken for incision from the steel wire head end which is proximate to skin.The postoperative specimen from one case had no calcification,which might be related to the condition that the calcification was located in the gland body,which got destruction from the surgical electrical electrotome.The excisionscope should be extended and the short term reexamination is recommended to make sure the complete excision of the calcification.Conclusion It is the gold standard method that implanting the steel wire with the stereotactic mammography to guide the surgical dissecting technique to diagnose non-palpable breast lesion(NPBL).Thorough understanding of the displacement manifestation of implanting steel wire with stereotactic technique and the treatment methods will be helpful in the surgical dissecting guidance.

Objective To detect mutations in the PTPN11 gene in a family with LEOPARD syndrome (LS).Methods Clinical data were collected from a 7-year-old boy patient with LS.Peripheral blood was obtained from the patient,both of his parents,and 50 healthy controls.All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing.Results A heterozygous missense mutation c.836A ＞ G,which resulted in a substitution of TAT by TGT at codon 279,was found in exon 7 of the PTPN11 gene in the patient.No mutation was detected in the unaffected parents or healthy controls.Conclusion The missense mutation c.836A ＞ G may be the cause of the phenotype of LS in this family.

Abstract: Our previous work revealed berberine can significantly enhance the susceptibility of fluconazole against fluconazole-resistant Candida albicans, which suggested that berberine has synergistic antifungal activity with fluconazole. Preliminary SAR of berberine needs to be studied for the possibility of investigating its target and SAR, improving its drug-likeness, and exploring new scaffold. In this work, 13-substitutited benzyl berberine derivatives and N-benzyl isoquinoline analogues were synthesized and characterized by 1H NMR and MS. Their synergetic activity with fluconazole against fluconazole-resistant Candida albicans was evaluated in vitro. The 13-substitutited benzyl berberine derivatives 1a-1e exhibited comparable activity to berberine, which suggested that the introduction of functional groups to C-13 can maintain its activity. The N-benzyl isoquinolines, which were designed as analogues of berberine with its D ring opened, exhibited lower activity than berberine. However, compound 2b, 2c, and 4b showed moderate activity, which indicated that berberine may be deconstructed to new scaffold with synergistic antifungal activity with fluconazole. The results of our research may be helpful to the SAR studies on its other biological activities.
Antifungal Agents ; pharmacology ; Berberine ; pharmacology ; Candida albicans ; drug effects ; Drug Resistance, Fungal ; Drug Synergism ; Fluconazole ; pharmacology ; Isoquinolines ; pharmacology ; Microbial Sensitivity Tests

Objective To investigate the toxicokinetic properties of ginkgolide B(GB) injection after single or repeat-ed administration by intravenous drip in Beagle dogs and to provide evidence for its rational use. Methods Beagle dogs were randomly divided into three groups,and received GB injection at big,medium and small doses of 80,20 and 5 mg·kg-1, re-spectively,by iv drip for 30 min per day and for 6 consecutive days per week for up to 91 days.The blood samples of Beagle dogs were drawn at different time points on the first and last day of administration,and concentrations in plasma were detected by GC-MS method.Toxicokinetic parameters were calculated by DAS pharmacokinetic software and statistically analyzed by SPSS 11.5 software. Results The elimination half-life (t1/2β) of GB at single dose of 5,20,80 mg·kg-1were(110.2±32.6),(115.4± 12.8),(98.6±26.8) min, respectively.The AUC0-twere (61.1±7.4), (348.6±90.5), (2 046.2±356.4) mg·L-1·min,re-spectively.The t1/2βof GB at mutiple doses of 5,20,80 mg·kg-1on the 91rd day were (117.9±28.0),(118.2±17.0),(120.5± 49.4) min,respectively.The AUC0-twere (67.9±14.9), (218.3±31.8), (1 986.4±426.6) mg·L-1·min, respectively.There was no significant difference in main toxicokinetic parameters including t1/2βamong the single or repeated dosage groups, but AUC0-tand Cmaxincreased proportionally with doses. Conclusion The curves of single and repeated intravenous drip of GB in-jection in beagle dogs were in line with the two atrioventricular model,with linear dynamic characteristics and there was no accu-mulation of repeated drug delivery in the body.

Objective To analyze the feasibility and clinical efficiency of laparoscopic Heller operation combined with Dor fundoplication in the treatment of patients with achalasia of cardia.Methods The clinical materials of 11 patients with achalasia of cardia treated by Heller operation and Dor fundoplication were retrospectively analyzed.Results All the patients successfully completed the operation.The operation time was 85 to 138 min,intra-operative blood loss was 25 to 100 mL,and postoperative hospital stay was 5 to 11 days.One patient had esophageal mucosal rupture,and was treated with repair and suture immediately,and no complications were observed.All the patients were followed up for 3 to 35 months,and the clinical symptoms were significantly relieved.Conclusion Laparoscopic Heller operation combined with Dor fundoplication is safe and effective in the treatment of patients with achalasia of cardia.

Objective To analyze the feasibility and clinical efficiency of laparoscopic Heller operation combined with Dor fundoplication in the treatment of patients with achalasia of cardia.Methods The clinical materials of 11 patients with achalasia of cardia treated by Heller operation and Dor fundoplication were retrospectively analyzed.Results All the patients successfully completed the operation.The operation time was 85 to 138 min,intra-operative blood loss was 25 to 100 mL,and postoperative hospital stay was 5 to 11 days.One patient had esophageal mucosal rupture,and was treated with repair and suture immediately,and no complications were observed.All the patients were followed up for 3 to 35 months,and the clinical symptoms were significantly relieved.Conclusion Laparoscopic Heller operation combined with Dor fundoplication is safe and effective in the treatment of patients with achalasia of cardia.

Male infertility is one of the serious problems currently affecting human reproduction and health.Healthy gut microbi-ota is involved in the development of the immune system and protection against pathogen invasion,and it maintain normal metabolism and improve reproductive potential by secreting a variety of substances.The imbalance of gut microbiota can promote the local and sys-temic immune inflammatory response,induce chronic metabolic diseases,affect the synthesis of sex hormones,cause abnormal sper-matogenesis,maturation or activation,and it is closely related to the decline of male fertility.By exploring the correlation between gut microbiota and male infertility,this paper aims to provide new clues and directions for the clinical diagnosis and treatment of male in-fertility.

Objective To investigate the level of CD4~+CD25~+Foxp3~+ regulatory T cells and observe relation between expression of Foxp3 and CD127 in peripheral blood of chronic HBV infection. Methods CD4~+CD25~+Foxp3~+and CD4~+CD25~+CD127~(low) Treg in peripheral blood from 34 patients of immune tolerance stage, 26 patients of immune clearance stage and 31 patients of non-active status were quantitatively analyzed by flow cytometry. Results Immune tolerance group presented a higher fraction of CD4~+CD25~+Foxp3~+ and CD4~+CD25~+CD127~(low) Treg than non-active group in chronic HBV infection(Z= -2.693, P=0.007 and t=3.251, P=0.002 ), and HBV positive group also presented a higher fraction than non-active group(t=-2.266,P=0.026 and t=3.208,P=0.002), But ALT normal group is similar to ALT abnormal group(P>0.05). In this study, the relation between expression of CD127~(low) and Foxp3~+ from CD4~+ CD25~+ regulatory T cells was observed, and CD4~+ CD25~+ CD127~(low) Treg presented a higher fraction than CD4~+CD25~+ Foxp3~+ Treg. Conclusion Peripheral Treg in HBV active replication group is higher than HBV negative group of chronic HBV infection. Expression of CD127~(low) is consistent with Foxp3~+ in CD4~+CD25~+ regulatory T cells, but the former is significant higher than the later.