Objective To determine the moisture in Huodan pills by near-infrared spectroscopy. Methods At the beginning,water content of 174 samples were determined and all data of samples about near-infrared spectrum were collected. And then all the data were pretreated by first-derivative and Savitzky-Golay filter. At last,the NIR quantitative model for moisture in huodan pills was established by partial least squares regression and validated by the validation set. Results The correlation coefficients,the root mean square error overall of calibration, that of cross validation of the calibration model was 0. 988 17, 0. 103,and 0. 326 16,respectively. The root mean square error overall of prediction and the average recovery of validation was 0. 217 and 98. 02%. Conclusion The NIR spectroscopy analysis model is steady,accurate and reliable,which can be used to detecte moisture content of huodan pills.

OBJECTIVETo apply single nucleotide polymorphism (SNP) microarray for delineation of small supernumerary marker chromosome (sSMC) in two newborns.

METHODChromosome karyotyping was performed on newborns who were born in Jan. 2013 and Jan. 2014 in Haidian Maternal and Child Health Hospital because of the abnormalities found in pregnancy checkups. SNP microarray analysis was carried out on 2 newborns with de novo sSMCs (one was mos 47,XY, + mar[45]/46,XY[5] and the other was mos 47, XY, + mar [30]/46, XY [20]), which could not be determined by conventional banding techniques. Genomic DNA was extracted from cord blood samples, amplified, tagged and hybridized following the manufacturer' s protocol. Data were collected and analyzed.

RESULTThere was a 78. 6 Mb duplication in chromosome 8 for Newborn A, which was associated with 8p22 duplication syndrome; and a 32. 7 Mb duplication in chromosome 13 for Newborn B, which was not yet reported definitely as pathogenic. The newborn A was identified with agenesis of the corpus callosum, obvious right eyelid drooping, the onset of low muscle tone and mental developmental lag behind their peers, while the newborn B had normal findings on physical and mental evaluation.

CONCLUSIONSNP-array can identify sSMCs of newborns at the DNA level, and can be used as an important supplement to the conventional karyotype analysis, but the pathogenicity of positive outputs need further verification.

Chromosome Duplication ; Chromosomes, Human, Pair 8 ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide

Objective To investigate the value of copy number variation analysis based on next-generation sequencing (NGS-CNVA) in the genetic analysis of missed abortion chorionic villi. Methods From August 2012 to May 2014, chorionic villi from 74 cases of missed abortion at 6-13 gestational weeks in Haidian Maternal and Child Health Hospital were collected and analyzed by karyotype analysis and NGS-CNVA. The results of the two methods were compared. Results (1) Karyotype analysis was carried out for the villi from the 74 missed abortion patients. Thirty cases were euploid, 26 cases were aneuploid, while 18 cases had structural abnormalities. The resolution of the karyotyping was 320 bands and the average report time was 22 days. (2) All of the 74 samples obtained NGS-CNVA results and the report time was 7-10 days. (3) The NGS-CNVA results of 56 cases were consistent with karyotype. Among them, 28 cases (28/56, 50%) had no copy number variants (CNV), and 19 cases (19/56, 34%)had CNV between 1 Mb and 10 Mb. 9 cases (9/56,16%) had CNV≥10 Mb found by NGS-CNVA, but not found by karyotyping. (4) According to the results of NGS-CNVA, karyotype were reviewed. The reviewed results found 7 cases with CNV<10 Mb and 3 cases with CNV≥10 Mb in 30 cases which got normal karyotype results at the first analysis. (5) Among the 18 cases of structural abnormalities, 6 cases were Robertsonian translocation. Sequencing technology could confirm the specific area of chromosome deletion/duplication in 8 cases, but could not locate them. Conclusions NGS-CNVA has lower failure rate, higher resolution, lower specimen requirement and shorter report time than karyotype analysis when used for the genetic analysis of missed chorionic villi . NGS-CNVA could be a useful genetic analysis method for the missed abortion villi.

Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com?mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec?tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7?2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge?netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.

Objective:To observe the morphological characteristics of high myopia (HM) paravalvular abnormalities (PVA), and the correlation between different manifestations of PVA and myopic traction maculopathy (MTM) was analyzed.Methods:A cross-sectional clinical study. A total of 42 middle-aged and elderly patients with HM and PVA diagnosed by ophthalmology examination in Department of Ophthalmology, The Second Hospital of Hebei Medical University from June to December 2021 were included in the study. There were 24 eyes in 16 males and 48 eyes in 26 females. Age was (56.71±8.10) years old. Diopter was (-13.05±3.10) D. Axial length (AL) was (28.22±1.04) mm. According to the characteristics of ultra-wide-angle optical coherence tomography images, PVA morphology was divided into paravascular microfolds (PM), paravascular cysts (PC) and paravascular lamellar holes (PLH). MTM was divided into T0-T5 grades, of which MTM≥T3 was defined as severe MTM. The state of vitreoretinal junction was observed and the state of posterior vitreous detachment (PVD) was recorded, which divided into complete PVD and partial PVD. Partial PVD was divided into macular fovea adhesions and paravascular adhesions according to the vitreoretinal adhesions. Posterior scleral staphyloma (PS) was divided into 6 types by ultra-wide-angle fundus photography. Logistic regression model was used to analyze the factors related to MTM.Results:In 72 eyes, PM, PC and PLH were 72 (100.0%, 72/72), 62 (86.1%, 62/72) and 29 (40.3%, 29/72) eyes, respectively. Among them, there were 10 (13.9%, 10/72) eyes with PM alone, 33 (45.8%, 33/72) eyes with PM and PC, and 29 (40.3%, 29/72) eyes with PM, PC and PLH, respectively. There were 42 eyes with partial PVD (58.3%, 42/72), among which the macular fovea and paravascular adhesion were 22 (52.4%, 22/42) and 24 (57.1%, 24/42) eyes, respectively. PS was present in 50 eyes (69.4%, 50/72), among which 27 (54.0%, 27/50), 21 (42.0%, 21/50), 1 (2.0%, 1/50), and 1 (2.0%, 1/50) eyes were types Ⅰ to Ⅳ, respectively. Multivariate logistic regression analysis showed that AL[odds ratio ( OR)=16.139, 95% confidence interval ( CI) 4.062-64.120, P<0.001], PS ( OR=4.212, 95% CI 1.234-14.378, P=0.022), paravascular vitreoretinal adhesion (OR=3.478, 95% CI 11.124, P=0.036) were risk factors for PM, PC and PLH. MTM was present in 58 eyes (80.6%, 58/72), among which T1 was the most common type in 19 eyes (26.4%, 19/72). Univariate logistic regression analysis showed that the occurrence of MTM was significantly correlated to PS ( OR=4.190, 95% CI 1.240-14.157, P=0.021), coexistence of PM, PC and PLH ( OR=11.323, 95% CI 1.389-92.311, P=0.023), and PS were significantly correlated. There was no correlation with PVD ( OR=1.889, 95% CI 0.580-6.150, P=0.291) or PS ( OR=2.778, 1.786; 95% CI 0.700-11.023; 0.445-7.167; P=0.146, 0.413). There was significant difference in the incidence of severe MTM between PM alone, PM combined with PC and coexistence of PM, PC and PLH ( χ2=20.943, P<0.001). Conclusions:PM is the most common and earliest manifestation of PVA in middle-aged and elderly HM patients. AL, PS and paravascular vitreoretinal adhesion are risk factors for PM, PC and PLH. The coexistence of three PVA forms may be a marker of severe MTM.

OBJECTIVETo establish a near-infrared spectroscopy quantitative model for rapid determination of the patchouli alcohol content in Pogostemon cablin.

METHODThe gas chromatography was adopted for determining the content of patchouli alcohol content in 102 batches of P. cablin samples. Their near-infrared spectrograms were collected and preprocessed by standard normal variate and the first derivative of Savitsky-Golay. The quantitative model of patchouli alcohol content was established by the partial least squares regression analysis.

RESULTAccording to the correction model established in this study, the root-mean-square error of calibration, the root-mean-square error of prediction and the root-mean-square error of cross-validation of the calibration model for Patchouli alcohol were 0.991 10, 0.012 9, 0.012 8 and 0.033 15, respectively.

CONCLUSIONThe near-infrared spectroscopy quantitative model established in this study is stable, accurate and reliable for the rapid determination of the content of patchouli alcohol in P. cablin.

Chromatography, Gas ; methods ; Lamiaceae ; chemistry ; Sesquiterpenes ; analysis ; Spectroscopy, Near-Infrared ; methods

Clinical data were retrospectively reviewed for one case of penicillium marneffei infection after renal transplantation (RT) to explore a proper management of peniciliosis marneffei (PSM)transplantation.This case had a history of pulmonary tuberculosis and underwent RT due to uremia.After discharging, postoperative recovery was excellent.Recurrent cough occurred at Month 7 post-operation.Fiberoptic bronchoscopy and pulmonary CT indicated a possibility of pulmonary tuberculosis.However, a definite diagnosis of PSM was confirmed by next generation sequencing (NGS) and pathogenic bacteria culture of alveolar lavage fluid.After adjusting immunosuppressive agents and regular antifungal treatment with voriconazole, respiratory symptoms improved and pulmonary CT hinted at a resorption of lesion.Features of pulmonary CT and bronchoscopic examination were nearly similar to those of tuberculosis.Thus early bacterium culture and NGS may aid an definite diagnosis.Voriconazole is an effective treatment of the disease.