Objective To investigate the clinical features of a patient diagnosed with Jacobsen syndrome (JBS) and Paris-Trousseau syndrome (PTS) using chromosomal microarray analysis. Method A retrospective analysis including the patients' clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The patient also presented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, sparse eyebrows, and speech delay. Gesell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality. This patient was also diagnosed with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions Patient diagnosed with JBS and PTS often present with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.

Carbon-nitrogen lyases (E.C.4.3) are a group of enzymes that release ammonia, amidine or amino group etc, and also show ability to form double bond or ring structure. Specifically, enzymes forming amino group are called amine-lyases (E.C.4.3.3), which are critical in the industrial production of many medicine intermediates. In this review is a summary of four major amine-lyases in terms of their source, enzymatic characteristics and their applications in preparation of pharmaceutical intermediates.

OBJECTIVETo observe analgesic effect of transcutaneous electrical acupoint stimulation combined with target-controlled infusion (TCI) in general anesthesia and effects on cardiovascular system.

METHODSSixty selective breast operation patients were randomly divided into a combined group and a TCI group, 30 cases in each group. The combined group received anesthesic induction for 30 min with transcutaneous electrical acupoint stimulation and then TCI into vein for general anesthesia, and the transcutaneous electrical acupoint stimulation was continued till the end of the operation. The TCI group only received TCI irito vein for general anesthesia. The target-controlled concentration of the general anesthesia drugs in plasma was monitored to evaluate the analgesic effect of transcutaneous electrical acupoint stimulation. Meanwhile, the effects of the transcutaneous electrical acupoint stimulation on cardiovascular system were investigated.

RESULTSThe mean Propofol and Fentany dosages needed were 226.67 mg and 0.11 mg in the combined group, and 272.22 mg and 0.14 mg in the TCI group during the operation, respectively, with significant differences (P < 0.05 or P < 0.01). The changes of heart rate and blood pressure in the combined group during skin-cutting were significantly less than those in the TCI group (P < 0.05). The awaking time in the combined group was significantly shortened.

CONCLUSIONThe transcutaneous electrical acupoint stimulation has a certain analgesic effect in the operation and can reduce 17% Propofol dosage and 14% Fentany dosage, and it can decrease the skin-cutting-induced stress reaction of the cardiovascular system and accelerate waking.

Acupuncture Analgesia ; methods ; Adult ; Anesthesia, General ; methods ; Blood Pressure ; Breast ; surgery ; Female ; Fentanyl ; administration & dosage ; Heart Rate ; Humans ; Middle Aged ; Propofol ; administration & dosage ; Transcutaneous Electric Nerve Stimulation

OBJECTIVETo study viruses infecting Pinellia ternata in China.

METHODSymptom observation, DAS-ELISA and RT-PCR detection were applied.

RESULT AND CONCLUSIONDuring a survey in early spring, SMV and CMV were both commonly distributed as main viruses infecting P. ternata collected from different areas in China. But DsMV was the virus which infected P. ternate in natural condition. The infection ratio of cultivated P. ternate by SMV and CMV were 71.4% and 14.3% respectively for 21 samples collected from Ningbo, Zhejiang province; 100% and 44.4% for 18 samples from Xiaoshan, Zhejiang province; 61.9% and 33.3% for 21 samples from Hebei province; 50.0% and 41.7% for 12 samples from Anhui province; 16.7% and 16.7% for 12 samples from Sichuan province; 31.3% and none for 16 samples from Beijing. And the infection ratio of 25 wild samples from different areas of China infected by SMV and CMV were both 20.0%.

China ; Cluster Analysis ; Cucumovirus ; genetics ; isolation & purification ; DNA, Complementary ; chemistry ; genetics ; Mosaic Viruses ; classification ; genetics ; isolation & purification ; Pinellia ; virology ; Plant Diseases ; virology ; Plants, Medicinal ; virology ; Sequence Analysis, DNA

Objective To investigate the macular vascular density after successful repair of rhegmatogenous retinal detachment (RRD) for one year using optical coherence tomography angiography (OCTA),and discuss the correlation between the macular vascular density and visual acuity.Methods Totally 42 patients of the RRD (42 eyes),their contralateral eyes (A group) and 42 patients of the normal eyes (B group) were recruited into this study.All participants underwent examination with best corrected visual acuity (BCVA) and OCTA.The difference in macular vascular density was compared and the correlation between BCVA and the vascular density was analyzed.Results The macular vascular density of superficial layer,deep layer and choroidal capillary layer was 0.422 4 ±0.089 3,0.4836 ±0.0748,0.527 1 ±0.039 0 in RRD group,respectively,0.469 3 ±0.112 5,0.550 0 ±0.074 0,0.546 2 ±0.034 3 in A group,respectively,0.5619 ±0.053 7,0.611 2 ±0.035 2,0.562 6 ±0.030 4 in B group,respectively.The macular vascular density was significantly decreased in RRD group when compared with A and B groups (all P ＜ 0.05).There was a positive correlation between BCVA and the macular vascular density in the deep layer and choroidal capillaries layer (r =0.629,0.654,both P =0.000).However,there's no correlation between the macular vascular density of superficial layer and BCVA (P =0.103).Conclusion All the macular vascular densities are decreased in patients of RRD after successful repair of retinal detachment one year later,which indicated that the blood flow does not completely recover.And there is a positive correlation between BCVA and macular vascular densities in deep layer and choroidal capillaries layer.And meanwhile,OCTA can objectively and effectively quantify the status of macular region blood flow.

Objective:To investigate the outcomes of the regimen with docetaxel, cisplatin, and 5-fluorouracil (TPF regimen) in chrono-chemotherapy, and evaluate the feasibility of reducing the toxicity and immunological damage in nasopharyngeal carcinoma (NPC) patients with distant metastasis at preliminary diagnosis, then to compare the advantages and disadvantages between chrono-che-motherapy and traditional chemotherapy. Methods:A total of 46 NPC patients with distant metastasis at preliminary diagnosis (UICC 2010 stage IVc) were enrolled in this study. These NPC patients were randomly divided into chrono-chemotherapy and conventional chemotherapy groups, with 23 cases for each group. TPF neo-adjuvant chemotherapy was conducted in both groups for two cycles, with 21 days to 28 days for each cycle. The following regimen was used for the chrono-chemotherapy group:docetaxel 75 mg/m2, infu-sion, d1;cisplatin 75 mg/m2, 10:00 a.m.-10:00 p.m., continuous infusion, d1-d5;and fluorouracil 750 mg/(m2 · d), 10:00 p.m.-10:00 a. m., continuous intravenous infusion, d1-d5. The following regimen was used for the conventional chemotherapy group:docetaxel 75 mg/m2, infusion, d1;cisplatin 75 mg/m2, infusion, d1;and fluorouracil 750 mg/(m2· d), continuous infusion, d1-d5, 120 h. Patients who obtained therapeutic efficacy via induction chemotherapy were provided with intensity-modulated radiotherapy as a concurrent radio-therapy and chemotherapy (DDP 100 mg/m2, infusion, d1-d2, with 21 days each cycle and a total of two courses). One month after con-current chemoradiation, an adjuvant chemotherapy with the same regimen as the induction chemotherapy was employed for a total of two courses. Acute and late toxicities were graded in accordance with the Common Terminology Criteria for Adverse Events v3.0 scor-ing. Tumor response was evaluated using the 2000 Response Evaluation Criteria in Solid Tumors. The effective rates included complete and partial responses. Relevant data were analyzed by SPSS16.0 statistical software. Results:More emesis was observed at Grade 2 or above in the conventional chemotherapy group than in the chrono-chemotherapy group, with statistical significance between the two groups (P=0.035). After chemotherapy, the value of CD4/CD8 increased in the chrono-chemotherapy group and decreased in the con-ventional chemotherapy group, with statistical significance between the two groups (P=0.033). Conclusion:The proposed chrono-che-motherapy outperforms conventional chemotherapy in reducing the occurrence of severe vomiting. This chrono-chemotherapy may be advantageous in reducing severe bone marrow depression and may play a positive role in the immune function of NPC patients.

OBJECTIVETo investigate whether or not NADPH oxidase (NOX) participates in leptin-induced reactive oxygen species (ROS) production in hepatic stellate cells (HSC) and to explore the possible mechanism.

METHODSHSC-T6 cells (rat hepatic stellate cells line) were divided into nine groups: Group1: leptin (100 ng/ml) treated; Group2-6: leptin treated together with inhibitors that block different ROS-producing systems: diphenylene-iodonium (DPI) (20 micromol/L), Rotenone (20 micromol/L), Metyrapone (250 micromol/L), Allopurinol (100 micromol/L) and Indomethacin(100 micromol/L); Group7: leptin treated together with Janus kinase (JAK) inhibitor AG490 50 micromol/L; Group8: normal control group (treated DMEM with 0.1% DMSO); Group9: negative control group (untreated). Intracellular ROS levels were measured with dichlorodihydrofluorescein diacetate (DCFH-DA) dye assay by Fluorescence microscope and/or flow cytometry. NOX activity was analyzed by using spectrophotometer to calculate the absorbance of NADPH. The mRNA levels of Rac1 and p22Phox were evaluated by RT-PCR.

RESULTS(1) Leptin increased significantly the ROS production as compared to normal control group (92.91+/-4.19 vs.27.56+/-6.27, P<0.01) in HSC-T6 cells. Both the NADPH oxidase inhibitor DPI and AG490 (50 micromol/L) blocked the ROS production, inhibitors of other ROS producing systems had no significant effect on ROS production induced by lepin (P is more than 0.05). (2) Leptin treated HSC-T6 cells for 1 hour up-regulated the NOX activity significantly compared with that in normal control group [(1.90+/-0.22) pmol.min(-1).mg(-1) vs. (0.76+/-0.06) pmol.min(-1).mg(-1), P<0.05]. Furthermore, the NOX activity increased after being treated with leptin for 12 hours and 24 hours than being treated for 1 hour. Leptin-induced up-regulation of NOX activity was inhibited by pretreatment with DPI or AG490. (3) The RT-PCR results indicated that mRNA expressions of Rac1 and p22Phox in HSC-T6 cells with 12 hours of leptin stimulation increased significantly as compared with normal control group (0.41+/-0.13 vs 0.14+/-0.08, 0.45+/-0.12 vs 0.20+/-0.08, all P<0.05), while the DPI and AG490 had no effect on the mRNA expressions of Rac1 and p22Phox.

CONCLUSIONNOX is the main cellular source of the reactive oxygen species (ROS) generated by HSCs in response to leptin stimulation. The mechanism is probably that leptin can directly activate NOX through JAK signal transduction and hence induce the expression of NOX subunit to promote the activity of NOX which generates considerable ROS in HSC.

Animals ; Cells, Cultured ; Hepatic Stellate Cells ; drug effects ; metabolism ; Leptin ; pharmacology ; NADPH Oxidases ; genetics ; metabolism ; Rats ; Reactive Oxygen Species ; metabolism

OBJECTIVE: To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array). METHODS: SNP array analysis was conducted for the boy and his parents, and the data was validated by real-time PCR. Correlation between the deleted genes and the phenotype was analyzed by reviewing the literature. RESULTS: The patient was found to carry a terminal deletion of 18q22.3q23 (7.1 Mb), which involved FBXO15, ZNF407, ZADH2, TSHZ1, MBP and ADNP2 genes. No pathogenic CNVs were found in the parents. Comparison of the patient with cases reported in the literature suggested that the ZNF407 gene probably accounts for the autistic phenotype in these patients. CONCLUSION The autistic phenotype of the patient may be attributed to the 18q deletion, for which ZNF407 may be a critical candidate. SNP array has provided an useful tool for the study of molecular mechanism underlying autism.
Autistic Disorder ; genetics ; DNA Copy Number Variations ; Humans ; Male ; Microarray Analysis ; Polymorphism, Single Nucleotide

Objective To understand the infection of Salmonella (S.) in patients with diarrhea and outbreaks caused by Salmonella to identify the serotypes, resistance to antibiotics and PFGE types of the strains from the surveillance program in Guangdong province. Methods S. strains from patients with diarrhea were detected, and all the positive strains collected in routine and outbreak surveillance programs, were tested by serum agglutination, antibiotic susceptibility and PFGE.Results 71 S. strains were isolated from 1922 stool samples in 2008, with positive rate as 3.7%.85 S. strains were isolated from 2110 stool samples in 2009, with positive rate as 4.0%. All the 156 strains were divided into 37 serotypes, with S. serotype typhimurium and enteritidis as the most common serotypes. 10 incidents of food poisoning were detected, of which 4 were caused by enteritidis and 3 by typhimurium. A suspected outbreak by enteritidis was discovered and under epidemiological investigation. The findings indicated that 2 of the 4 patients from this outbreak were infected with identical enteritidis isolates. 80% of the 229 isolates were found susceptible to cephalosporins and quinoione and 59.3% of them were muitiresistant to the antibiotics. Conclusion S. enteritidis and S. typhimurium were the most common serotypes that caused infectious diarrhoea and food poisoning in Guangdong province.

Objective To understand the genetic polymorphism of Salmonella and Staphylococcus aureus in Guangdong province, as well as to explore methods for identifying and tracing the source of these two foodbome pathogens. Methods Using the automated ribotyping system, two foodbome pathogens were tested with either EcoR Ⅰ or Pvu Ⅱ restriction enzymes. BioNumerics software was then applied for image analysis, database establishment and other corresponding analysis. Results Digestion of 32 Salmonella isolates with Pvu Ⅱ yielded 19 different ribotypes,and digestion of 14 Salmonella isolates with EcoR Ⅰ yielded 2 different ribotypes. Staphyloccus aureus isolates showed greater genetic diversity, whereas EcoR Ⅰ digestion of 49 different isolates yielded 31 different ribotypes. Conclusion Unique Salmonella and Staphylococcus aureus isolates could be identified through ribotyping. Although Salmonella serotyping and ribotyping were not strongly correlated, the combination of both restriction enzymes could be used to more effectively identify the genetic relationship among different strains as well as the source of food poisoning. Thus, not only could the genetic relationships amongst the different strains be inferred through ribotyping skills, the source of food poisoning and mode of transmission could also be determined under the use of this method.