Objective To optimize supercritical extraction technique from four medicinal materials, which are the part components in the recipe of Keganliyan Oral Liquor and are extracted traditionally for essential oils. Methods Extraction ratio and menthol extraction quantity were taken as evaluated indexes. Supercritical extraction technique was researched with orthogonal tests, gas chromatography, and SAS statistic. Results Within the test levels, temperature and time showed evident effect on extraction ratio and menthol extraction quantity, while pressure did not show any evident effect on them、 The preferable technique to extraction ratio is temperature at 55 ℃, time for 120 min, and extracted pressure at 27 MPa; and the preferable technique to menthol extraction quantity is temperature at 45 ℃, time for 120 min, and extracted pressure at 22 MPa. Conclusion The optimized supercritical extraction technique for Keganliyan Oral Liquor is feasible.

Objective To investigate the prenatal diagnosis and phenotypic assessment strategies for fetal supernumerary marker chromosomes and derivative chromosomes. Methods Five cases of fetal supernumerary marker chromosomes and one case of fetal derivative chromosomes were diagnosed in the First Affiliated Hospital of Sun Yat-Sen University from March 12, 2010 to November 9, 2012 by conventional chromosome banding, fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY). These cases were retrospectively reviewed. Combined with the results of ultrasonography, abnormal phenotypes and pregnancy outcomes were evaluated in these cases. Results All of the five supernumerary marker chromosomes were de novo, in which two were mosaic and the remaining three cases were non-mosaic. Of these five cases, two were type 47, XX+mar and ultrasound indicated abnormal phenotypes. FISH and SKY confirmed that they were derived from chromosome 4 and 22, respectively. The other three cases were marker chromosome with Turner syndrome karyotype (abnormal phenotypes were not found by ultrasound), in which two cases were derived from chromosome Y (by FISH) and one case was identified as ring chromosome X (by FISH and SKY). One de novo derivative chromosome was verified as a product of reciprocal translocation between chromosome 2 and 6 (by FISH and SKY). Induced abortion was performed in all cases between 25 and 32 gestational weeks. Conclusions By combining conventional chromosome banding, FISH and SKY, the origin and content of supernumerary marker chromosomes and derivative chromosomes can be identified. On this basis, clinical phenotype evaluation and genetic counseling may be offered with the ultrasonographic result.

A total of 20 normal newborns and 8 brain injured newborns were monitored for 2 hours with domestic digital amplitude integrated cerebral function monitor (CFM 3000) and similar imported products LECTROMED CFM 5330 simultaneously. 32 newborns with seizures or suspected seizures were monitored with CFM 3000 and conventional electroencephalogram (EEG) simultaneously. The tracings of amplitude integrated electroencephalogram (aEEG) monitored by CFM 3000 and LECTROMED CFM 5330 are similar to each other. The continuous electrical activity, sleep-wake cycle, the mean of lower or upper bound voltage and duration of broad and narrow band were no significant statistical difference between different machines; The pattern of aEEG tracing of 8 infants with brain injury monitored by CFM 3000 was the same as monitored by the LECTROMED CFM 5330. The detection rate of seizure with CFM 3000 and conventional EEG were no statistically significant difference, and the consistency with Kappa test was: Kappa = 0.552, P = 0.001. The CFM 3000 can reflect the change of cerebral function and identify infants with brain injury reliably.
Brain Injuries ; diagnosis ; physiopathology ; Electroencephalography ; methods ; Female ; Humans ; Infant, Newborn ; Male ; Monitoring, Physiologic ; instrumentation ; methods ; standards ; Seizures ; diagnosis ; physiopathology ; Signal Processing, Computer-Assisted

OBJECTIVETo analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation.

METHODSG-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of detected abnormality. Result of the SNP array was validated with fluorescence in situ hybridization (FISH).

RESULTSThe SNP array has detected a 6.053 Mb deletion at 15q11.2q13.1 (22,770,421- 28,823,722) which overlapped with the critical region of AS (type 1). The parents of the child showed no abnormal results for G-banded karyotyping, SNP array and FISH analysis, indicating a de novo origin of the deletion. Mendelian error checking based on the SNP information suggested that the 15q11.2q13.1 deletion was of maternal origin.

CONCLUSIONSNP array can accurately define the size, location and parental origin of chromosomal microdeletions, which may facilitate the diagnosis of AS due to 15q11q13 deletion and better understanding of its genotype-phenotype correlation.

Angelman Syndrome ; genetics ; Child ; Genotype ; Humans ; Karyotyping ; methods ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; genetics

Amplitude integrated electroencephalogram (aEEG), also known as cerebral function monitor (CFM), is a non-invasive detection of brain function, having good accuracy in early diagnosis and prognosis evaluation of neonatal brain damage. Today, doctors classify amplitude integrated electroencephalogram mainly based on its waveform and amplitude, then they make correct diagnosis of brain function of neonates. However, in some cases, the amplitude and waveform of aEEG are not very clearly shown, the only way is relying on doctors' experience to give out judgement, which has some subjective factors, so doctors can not present accurate diagnostic information. To solve this problem by the use of non-linear dynamics, we calculate and analyze the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG for neonates with convulsions and for normal neonates; then we take these three characters as a three-dimensional vector; finally, the aEEG of neonates with convulsions and the aEEG of normal neonates are distributed into two parts in threedimensional space, thus the correlation dimension, Lyapunov exponent and approximate entropy of the aEEG can reflect the internal information of neonatal brain function. Therefore, it can be used as a new method for studying neonatal aEEG.
Brain ; physiology ; Electroencephalography ; methods ; Humans ; Infant, Newborn ; Neonatal Screening ; methods ; Nonlinear Dynamics ; Seizures ; diagnosis ; physiopathology ; Signal Processing, Computer-Assisted

OBJECTIVETo use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism.

METHODSA pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping.

RESULTSAnalysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype. NGS analysis of the fetus revealed a 20.67 Mb duplication (4 454 279-25 126 275) at 9p21.3p24.2, which overlapped with that of the 9p duplication syndrome, and a 4.43 Mb deletion at 9p24.2p24.3 (10 001-4 442 364), which partially overlapped with that of 9p deletion syndrome and 46,XY sex reversal 4 region. Comparison of the sequencing data with reference genome database indicated direct duplication of 9p21.3p24.2, which was also supported by review of the morphology of chromosome 9p. Therefore, the karyotype of the fetus was verified to be 46,XX,der(9) dir dup(9)(p21.3p24.2), del(9)(p24.2p24.3).

CONCLUSIONCombined G-banded karyotyping and NGS can identify dir dup del(9p) with accuracy. Delineation of the mechanism of dir dup del(9p) and its genotype-phenotype correlation may facilitate genetic counseling and estimation of recurrence risk.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis ; Trisomy ; genetics

Objective To explore the early predictive value of red cell distribution width (RDW) for contrast-induced nephropathy (CIN) in patients after enhanced computed tomography (CT). Methods A total of 218 patients who underwent enhanced CT between June 2015 and June 2017 at Huizhou Central Municipal Hospital were enrolled in this study. Patients were divided into CIN group and no-CIN group. The diagnostic criteria for CIN is an increase in serum creatinine (Scr) of more than 44.2 μmol/L or 25％ of the baseline value within 3 days of contrast agent use. The general information and clinical characteristics in two groups were compared. The risk factors of CIN were analyzed by logistic regression analysis. The receiver operator characteristic curve (ROC) was used to assess the value of RDW for predicting the occurrence of CIN. Results Among 218 patients, 10(4.59％ ) patients had CIN. In the CIN group age, baseline Scr and baseline RDW were significantly higher, while hemoglobin, baseline estimated glomerular filtration rate (eGFR), red blood cell, white blood cell, albumin, and high - density lipoprotein cholesterol were significantly lower than those in the no - CIN group (all P＜0.05). Binary logistic regression analysis revealed that baseline RDW (OR=2.250, 95％CI 1.031-4.911, P=0.042) and eGFR (OR=0.963, 95％ CI 0.928-0.999, P=0.044) were correlated with the occurrence of CIN. ROC analysis confirmed the area under the curve of RDW as a predictor of CIN was 0.798 (P＜0.001). The cut - off value of RDW was 14.5％ , and the diagnostic sensitivity and specificity in CIN were 70.00％ and 85.58％, respectively. Conclusions Increased baseline RDW and decreased eGFR are the risk factors of the occurrence of CIN after enhanced CT. RDW has a good predictive value, and it may be a good biomarker for the early diagnosis of CIN.