Objective To investigate clinical value of single nucleotide polymorphism array (SNParray) gene chip technique in diagnosis of genetics of recurrent spontaneous abortion (RSA).Methods From January to October 2012,the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study(RSA group).Meanwhile 20 cases with induced abortion were taken as control group.All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array,respectively.Results Chorionic villus chromosomal examination was successfully done in 19 cases (73％,19/26),which 10 cases were found with chromosomal anomaly,the overall detection rate is 10/19.However,SNP-array analysis was successfully performed in all 26 cases.The overall rate of detection was 100％,and abnormalities were found in 15 cases,which reached the detection rate was 58％ (15/26).Chorionic villus chromosomal examination was successfully done in 16 cases (16/20) in control group,and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases (20/20),and none was found abnormalities.Conclusion SNP-array gene chip technique showed highly accurate feature,which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.

A method for the analysis of five types of triphenylmethane dye residues in water was developed by using solid phase extraction ( SPE) combined with ultra performance liquid chromatography coupled to triple quadrupole linear ion trap mass spectrometry ( UPLC-MS/MS/MS ) . The water samples were extracted and cleaned with mixed-mode cation exchange solid-phase extraction cartridges ( MCX) . The UPLC separation was performed on a C18 column with a linear gradient elution program of acetonitrile and 5 mmol/L aqueous ammonium acetate ( containing 0. 02% formic acid) as mobile phase. Triphenylmethane dye residues were analyzed by mass spectrometry under an electrospray ionization interface ( ESI ) in positive ion mode with MRM-IDA-EPI mode. The calibration curves of five types of triphenylmethane dyes were linear in the range of 0. 02-20 μg/L, and the correlation coefficients were not less than 0. 998. The recoveries at spiked levels of 5 , 10 and 20 μg/L were in the range of 70 . 9%-101%, and the RSDs were 3 . 4%-11 . 9% ( n=6 ) . The limit of detection and quantification were 0. 42-2. 18 ng/L and 1. 68-8. 73 ng/L, respectively. The method was performed as sensitive and accurate, and also suitable for simultaneous determination of five types of triphenylmethane dye residues in water.

OBJECTIVE:To study the effects of Ⅰ,Ⅱ crystal and amorphous forms of lercanidipine hydrochloride on the preparation,and provide theoretical basis for its development and consistency evaluation. METHODS:X-ray powder diffraction (XRD),infrared spectrophotometry(IR)and differential scanning calorimetry(DSC)were adopted to identify the 3 crystal forms of lercanidipine hydrochloride. XRD was used to compare the effects of crushing,grinding,pressing technology,wetting granula-tion,adhesive solvents(water,ethanol)and drying temperature(50,60,70℃)on stability of 3 crystal forms of lercanidipine hy-drochloride;the dissolution in vitro in water,hydrochloride,pH 4.5 acetate buffer,pH 6.8 phosphate buffer were compared among 3 crystal forms of Lercanidipine hydrochloride tablet. RESULTS:XRD showed both Ⅰ,Ⅱ crystal forms had characteristic diffrac-tion peak with inconsistent 2 θ values,amorphous had no characteristic diffraction peak;IR showed 3 crystal forms had different absorption intensity and absorption peak number;DSC showed Ⅰ,Ⅱ crystal forms had obvious endothermic peak in 194.6 ℃, 207.3 ℃,respectively,amorphous had obvious endothermic peak in 86.1 ℃ and exothermic peak in 299.8 ℃. Crushing,grinding, pressing and drying temperature had no effects on the stability of 3 crystal forms;water had no effect on the stability of crystal in wetting granulation,ethanol may cause the change of Ⅰcrystal form. Except for the comparison between Ⅰ,Ⅱ crystal forms in hydrochloride (f2=68),the dissolution f2 of 3 crystal forms in 4 kinds of medium were lower than 50. CONCLUSIONS:XRD, IR,DSC methods can identify the 3 crystal forms of Lercanidipine hydrochloride tablet. When preparing lercanidipine hydrochlo-ride by Ⅰcrystal form,wetting granulation should avoid using ethanol as a adhesive solvent,instead of water. Different crystal forms can affect the dissolution in vitro of prepared Lercanidipine hydrochloride tablet.

The free membrane of Eudragit L100/S100 which is pH-sensitive, colon-specific was prepared by plane casting films. The film humidity, species and amount of plasticizers, the ratio of membrane material was investigated. The rate of membrane permeability and mechanical properties were used as indicators of orthogonal experiment, and its related properties were studied. The results show that the mechanical properties of the membrane and phragmoid capacity are the best when 30% TEC was used as plasticizer; the ratio of membrane material have little effect on the rate of membrane permeability and mechanical properties. By adjusting the species and amount of plasticizers, the ratio of Eudragit L100/S100, the free membrane which is colon-specific can be obtained.

Objective: To explore the genetic basis of a child with idiopathic mental retardation. Methods: Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS). Results: No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c. 722delA(p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation - 27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance. Conclusion A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.

Objective To evaluate the effect of cardamonin on acute lung injury induced by hemorrhagic shock and resuscitation (HSR) in rats.Methods Thirty-two male Sprague-Dawley rats,aged 18-24 weeks,weighing 200-250 g,were divided into 4 groups (n =8 each) using a random number table:sham operation group (group Sham);group HSR;cardamonin group (group CA);cardamonin + adenosina A2A receptor antagonist ZM241385 group (group CZM).Bilateral common carotid arteries were only cannulated in group Sham.The left common carotid artery was cannulated for blood-letting until mean arterial pressure was reduced to 35-45 mmHg and maintained at this level for 30 min,and the animals were then resuscitated by infusion of shed blood and normal saline two-fold volume of shed blood to establish HSR model in HSR,CA and CZM groups.ZM241385 5 mg/kg was injected intraperitoneally at 30 min before blood-letting in group CZM,and cardamonin 75 mg/kg was injected intraperitoneally immediately after the beginning of resuscitation in CA and CZM groups.The rats were sacrificed at 2 h after completion of resuscitation,bronchoalveolar lavage fluid (BALF) was collected for determination of neutrophil count,and lungs were removed for microscopic examination of the pathological changes and for determination of wet/dry lung weight ratio (W/D ratio),contents of tumor necrosis factor-alpha (TNF-ct),interleukin-1 (IL-1β) and IL-6 (by enzyme-linked immunosorbent assay) and expression of adenosine A2A receptors in lung tissues (by Western blot).Results Compared with group Sham,the neutrophil count in BALF,W/D ratio and contents of TNF-α,IL-1β and IL-6 were significantly increased,the expression of adenosine A2A receptors was significantly down-regulated in group HSR,and the neutrophil count in BALF and contents of TNF-α and IL-6 were significantly increased (P＜0.05),and no significant changes were found in W/D ratio,content of IL-1β,and expression of adenosine A2A receptors in group CA (P＞0.05).Compared with group HSR,the neutrophil count in BALF,W/D ratio and contents of TNF-α,IL-1β and IL-6 were significantly decreased,the expression of adenosine A2A receptors was significantly up-regulated (P＜0.05),and the pathological changes were significantly attenuated in group CA,and no significant changes were found in the parameters mentioned above in group CZM (P＞0.05).Compared with group CA,the neutrophil count in BALF,W/D ratio and contents of TNF-α,IL-1β and IL-6 were significantly increased,the expression of adenosine A2A receptors was significantly down-regulated (P＜0.05),and the pathological changes were aggravated in group CZM.Conclusion Cardamonin can attenuate acute lung injury induced by HSR in rats,and activated adenosine A2A receptors and inhibited inflammatory responses are involved in the mechanism.

Objective To summarize brain magnetic resonance imaging (MRI) features and differential diagnosis of sporadic Creutzfeldt-Jakob disease. Methods The clinic data of 8 probable Creutzfeldt-Jakob disease cases in our hospital were analyzed retrospectively from January 2009 to June 2014. We mainly analysed the characteristics of brain MR and the causes of misdiagnosis. We had followed up the family members of these patients on the progress and progno?sis of disease. We also analyzed the differential diagnosis of sCJD. Results All the patients presented with rapid progres?sive dementia and mental abnormal behavior as the main clinical manifestations. All the patients had abnormal routine EEG and five of them had a periodical sharp wave complexes. The brain MRI of the 8 patients showed high signal intensi?ties in cerebral cortex (and/or basal ganglia) on diffusion weighted images (DWI) and 5 of them had caudate nucleus and (or) putamen involvement. The lesions were first appeared in DWI imaging as“ribbon-like”high signal, followed by Flair as high signal intensities. lesions were low signal intensities on T1WI and high signal intensities on T2WI. Five pa?tients were misdiagnosed. 2 cases were misdiagnosed as having cerebral infarction,1 case was misdiagnosed as having vi?ral encephalitis, 1 case was misdiagnosed as having Alzheimer's disease, 1 case was misdiagnosed as having vertigo and 1 case was misdiagnosed as having corticobasal degeneration. Conclusions The brain MRI of the sCJD patients showed a certain characteristic. DWI is the most sensitive tool in the detection of lesions which is useful in the early diagnosis of this disease. We should distinguish sCJD form ischemic cerebrovascular disease, encephalitis, and other progressive de?mentia identification.

Objective To optimize the prescription of GA and GB hydrophilic gel matrix tablets; To study the in vitro release mechanism. Methods On the basis of the results of the mono-factor investigation, mixture uniform design was used to optimize the handicraft molding prescription of GA and GB hydrophilic gel matrix tablets. The release mechanism was investigated by the vitro of the GA and GB hydrophilic gelmatrix tablets to accumulate releasing rate to conduct linear fitting. Results The optimized prescription of GA and GB hydrophilic gel matrix tablets was: powder: HPMC: lactose=23:24:53. Conclusion Mixture uniform design can be used to optimize the prescriptions of GA and GB hydrophilic gel matrix tablets, and the results are accurate. The hydrophilic gelmatrix tablets release medicine by non-Fick mechanism, and the medicine release is in accordance with zero-order.

Objective: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. Methods: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. Results: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. Conclusion A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

Objective To analyze the effect of endophytic renal tumor growth characteristic on the short-term outcomes of robot-assisted laparoscopic partial nephrectomy (RALPN).Methods From March 2015 to October 2016,23 RALPN cases of endophytic renal masses and 68 RALPN cases of intermediate and exophytic renal tumors were retrospectively analyzed.There were no significant differences in age,gender,tumor side,history of abdominal surgery,benign and malignant cases of the two groups of patients (P ＞ 0.05).Patients with a completely endophytic mass had smaller tumors [(2.4 ± 0.5) cm vs.(3.9 ± 1.1) cm],and higher overall R.E.N.A.L.score (P ＜ 0.05).The differences of perioperative period and postoperative follow-up results were analyzed.Results All 91 RALPN cases were successfully done without conversion to open or radical nephrectomy.There were no significant differences in intraoperative blood loss,postoperative Hb decrease,intraoperative and postoperative blood transfusion rate,hospital days,positive tumor margins,and the incidence of Clavien-Dindo grade Ⅲ or above in the two groups (P ＞ 0.05).The endophytic group showed longer operative time [(95.6 ± 19.4) min vs.(75.3 ± 16.9) min],and longer renal warm ischemia [(25.2 ±5.4)min vs.(17.6 ±7.0)min].In the postoperative follow-up of 3 months to 22 months,all patients got disease-free survival.Conclusions RALPN for completely intraparenchymal renal tumors can be safely and effectively performed in experienced institutes.However,the long-term period of follow-up is still missing.