AIM: To discuss the GC analysis of naphtha of Semen Persicae,Flos carthami and its couplet medicine(Semen Persicae plus Flos carthami). METHODS: To determine the relative content of naphtha by vapour distill,Gas Chromatography-Mass Spectrometry and Chemometric Resolution Method and GC unitary area method. RESULTS: The obtained naphtha of Flos carthami consisted of 54 constitutes such as dodecanoic acid and n-Hexadecanoic acid.The obtained naphtha of Semen Persicas comprised 6 constitutes such as benzaldehyde.And the obtained naphtha of Semen Persicae plus Flos carthami possessed 40 coustitutes,such as dodecanoic acid,n-Hexadecanoic acid and benzaldehyde. CONCLUSION: The constitutes Semen Persicae plus Flos carthami are basical the linear addition of constitutes Semen Persicae and Flos carthami but 21 kinds of constitutes in the absence of both Semen Persicae and Flos carthami.

Objective To study the repairing effects of nerve growth granule(NGG) on rat common peroneal nerve transection injury.Methods After 50 Sprague-Dawley rats were subjected to nerve suture after transaction,they were randomly divided into 5 groups for daily intragastric administration of drugs:NGG high-dose(5.2g/kg),medium-dose(2.6g/kg),low-dose(1.3g/kg) groups,mecobalamin group(positive control) at 625 ?g/kg,control group(control group control).The drug administration lasted for 4 weeks.Footprint test was performed 2-,3-and 4-weeks after surgery to evaluate toe spread function(TSF).Electrophysiology was performed 4 weeks after operation to determine the compound muscle action potential(CMAP) and nerve action potential(NAP).The number of regenerated myelinated nerve fibers,thickness of myelin sheath and cross sectional area of tibial muscle were measured by histomorphology.Results TSF,amplitude and recovery rate of CMAP and NAP,the number of regenerated myelinated nerve fibers,thickness of myelin sheath and section area of tibial muscle were all increased significantly in a dose-dependent manner compared with the control group.Conclusion NGG contributes to axon growth and myelination,and thus promotes peripheral nerve regeneration in rats with functional recovery.

Objective To study the impact of methionine restriction (MetR) on mucosal histopathology,permeability and tight junction composition in a dextran sulfate sodium (DSS)-induced colitis model,and to explore its underlying mechanism.Methods SD rats were randomly divided into 4 groups:normal rats fed by a complete amino acid (AA group) diet,normal rats fed by MetR diet (MetR group),DSS treated rats fed by a complete amino acid (DSS + AA group) and DSS treated rats fed by MetR diet (DSS + MetR group),each group had 15 rats.Abdominal aorta blood sampling was taken at day 21 after DSS model been established to analyze blood routine examination,liver and kidney function and level of electrolyte.Morphological changes in colonic mucosa were evaluated and scored by light microscopy.Myeloperoxidase (MPO) activity was measured.The effect of MetR on mucosal permeability of colon strips was detected by Ussing chamber.Claudin2,occludin,claudin3,ZO-1 expression were quantified by Western blot.Results The early clinical manifestation in the DSS treated rats were loose stool or diarrhea,hematochezia positive and bleeding,and weight losing.HE observation showed prominent colitis in distal colon with manifestations of crypt abscess and infiltration of inflammatory cells.Although MPO activity and WBC account between the DSS + MetR and DSS + AA group did not significantly changed,treatment with MetR diet significantly decreased the extent and severity of epithelial injury of DSS + MetR group (10.55 ± 3.62 vs 15.00 ± 4.89,P =0.003).There were no significant difference in PCNA immunohistochemical result between the DSS + MetR group and DSS + AA group.Compared to the rats on AA diet,transepithelial electrical resistance(TEER) in DSS + AA group was obvious lower [(28.40 ± 6.78) Ω · cm2 vs (46.53 ± 4.03)Ω · cm2,P ＜0.05],and TEER in MetR group were obviously higher[(60.64 ± 8.40)Ω · cm2 vs (46.53 ±4.03)Ω · cm2,P ＜0.05].However,short-circuit current (Isc) in DSS + MetR group was obviously higher that of DSS + AA group [(35.01 ± 2.19) μA/cm2 vs (29.61 ± 1.19) μA/cm2,P ＜0.05].Western blot suggested that colon claudin2 expression was not found in colon epithelium of normal rats,and an obviously increase expression of claudin3 protein was found in the MetR group,compared to AA group; and an significantly increase in the abundance of claudin3 was found in the DSS + MetR group,but amount of claudin2 was decreased,compared with the DSS + MetR group.Conclusion The MetR diet has obvious therapeutic effect on ulcerative colitis model rats induced by DSS,and its mechanism may not by regnlating inflammatory cell infiltration and the way of promoting intestinal cell growth to alleviate inflammatory injury,but probably by changing the structure and function of tight junction protein and improve the intestinal mucosal barrier function,and promote the repair of damaged intestinal mucosa.

Objective To find the best time to remeasure temperature after cooling with evidence-based practice. Methods Used Johns Hopkins′ Evidence Based Practice Tool to find the best time to remeasure temperature after cooling. That tool included three steps which were establish problem, evidence synthesis and transfer evaluation. Results The best time to remeasure temperature after physical cooling was 30 minutes. The best time to remeasure temperature after drug cooling was 60 minutes. The best time to remeasure temperature after physical and drug combination cooling was 30 minutes after physical cooling and 60 minutes after using drug. Conclusion The best time to remeasure temperature after cooling was different because of the different cooling methods.

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

The clinical characteristics and gene mutation characteristics of a child with typical maple syrup urine disease were analyzed retrospectively.The child is a boy, who showed unexplained milk refusal, poor reaction, foaming at the mouth, and encephalopathy symptoms 7 days after birth.The total leucine concentration was abnormally increased by blood tandem mass spectrometry, and the results of urine gas chromatography/mass spectrometry suggested that the concentrations of 2-hydroxy isovaleric acid, 2-keto isovaleric acid, 2-keto-3-methylpentanoic acid and 2-keto-isohexanoic acid were significantly increased.The gene detection results showed that c. 1028delC (p.S343Lfs*9) homozygous mutation was found in the BCKDHB gene.Understanding the clinical symptoms and gene mutation characteristics of this disease can help with the early detection and early diagnosis of this disease, so as to improve its prognosis to the greatest extent.

OBJECTIVE: To explore the clinical and genetic features of an adult female with premature ovarian failure (POF) and mosaic ring chromosome 13. METHODS: The patient was subjected to G-banding karyotyping and chromosomal microarray analysis (CMA). RESULTS: The patient was diagnosed as POF and had a karyotype of 46,XX,r(13)(p13q34)[86]/45,XX,-13[9]/46,XX,r(13;13)[5]. CMA analysis has failed to detect any deletion in the long arm of chromosome 13. Literature review suggested that the ring chromosome 13 may have clinical symptoms similar to those of sex chromosome abnormalities. CONCLUSION A case of mosaic ring chromosome 13 and POF has been reported. Mosaic ring chromosome 13 may lead to symptoms of POF similar to sex chromosomal abnormalities.
Adult ; Chromosome Aberrations ; Female ; Humans ; Karyotype ; Karyotyping ; Phenotype ; Primary Ovarian Insufficiency ; genetics

Objective: To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia. Methods: Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing. Results: Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c. 221A>C (p.H74P). Conclusion The missense c. 221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Objective:To explore the effect of multidisciplinary collaboration（MDT）mode on perioperative nursing of chronic ulcer of diabetes mellitus patients following lower extremity trauma.Methods:A retrospective case-control study was conducted to analyze the clinical data of 122 diabetes mellitus patients combined with chronic ulcer following lower extremity trauma admitted to Sir Run Run Shaw Hospital affiliated to Zhejiang University School of Medicine from January 2015 to December 2019. There were 58 males and 64 females at age of 40-76 years［（56.0 ± 4.7）years］. The wounds were located at the heel in 10 patients，at the lateral ankle in 12，at the toe in 22，at the calf in 59 and at the thigh in 19. Sixty patients received MDT care（collaborative care group），and 62 patients received traditional care（traditional care group）. Visual analogue scale（VAS）and level of fasting plasma glucose were measured at days 1 and 3 postoperatively and on the day of discharge. Mental status of the patients was evaluated using self-evaluation of anxiety scale（SAS）and self-rating depression scale（SDS）after nursing. Area and depth of wounds was detected at postoperative 2 weeks and 1 month，and level of fasting glucose was measured again within 1 month after operation. The rate of amputation，incidence of debridement and direct suture rate were documented while hospitalized again at postoperative 1 month.Results:All patients were followed up for 0.5-3 months［（1.2 ± 0.7）months］. VAS was 1.0（1.0，2.0）points，1.0（0.0，1.0）points and 1.0（0.0，1.0）points in collaborative care group at days 1 and 3 postoperatively and on the day of discharge，compared to 2.0（2.0，2.3）points，2.0（2.0，2.0）points and 1.0（1.0，2.0）points in traditional care group（ P < 0.05）. Level of fasting blood glucose was（7.2 ± 0.8）mmol/L，（6.9 ± 0.8）mmol/L and（6.9 ± 0.7）mmol/L in collaborative care group on days 1 and 3 postoperatively and on the day of discharge，compared to（7.8 ± 0.8）mmol/L，（7.8 ± 0.8）mmol/L and（7.7 ± 0.9）mmol/L in traditional care group（ P < 0.05）. Scores of SAS and SDS were（8.4 ± 0.8）points and（11.2 ± 1.0）points in collaborative care group after nursing，compared to（8.7 ± 0.7）points and（12.3 ± 1.0）points in traditional care group（ P < 0.05）. Area and depth of wounds were（29.4 ± 3.9）cm 2 and（1.4 ± 0.4）cm in collaborative care group at postoprative 2 weeks，compared to（33.3 ± 3.6）cm 2 and（1.5 ± 0.5）cm in traditional care group（ P < 0.05）. Area and depth of wounds were（24.5 ± 3.8）cm 2 and（0.9 ± 0.4）cm in collaborative care group at postoprative 1 month，compared to（30.6 ± 4.8）cm 2 and（1.2 ± 0.5）cm in traditional care group（ P < 0.05）. Level of fasting blood glucose in collaborative care group was significantly lower than that in traditional care group at postoprative 1 month（ P < 0.05）. During hospital re-admission 1 month after operation，rate of amputation and incidence of re-debridement were 5%（3/60）and 7%（4/60）in collaborative care group，significantly lower than those in traditional care group［18%（11/62），22%（13/62）］（ P < 0.05），and direct repair suture rate was 88%（53/60）in collaborative care group，significantly higher than that in traditional care group［61%（38/62）］（ P < 0.05）. Conclusion:For chronic ulcer of diabetes mellitus patients following lower extremity trauma，MDT model is superior over traditional nursing for alleviated pain，controlled blood glucose，improved psychological state，promoted wound healing and reduced rate of amputation and incidence of re-debridement.