Objective:To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC).Methods:Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq). Microdissection combined with high-throughput whole genome sequencing (MicroSeq) was carried out to determine the fragment size and genomic information of their sSMCs. Results:For patient 1, G-banded karyotyping and FISH revealed that he has a karyotype of mos47, XY, del(16)(p10p12), + mar[65]/46, XY, del(16)(p10p12)[6]/48, XY, del(16)(p10p12), + 2mar[3].ish mar(Tel 16p-, Tel 16q-, CEP 16-, WCP 16+ ). CNV analysis has yielded a result of arr[GRCh37]16p12.1p11.2(24999364_33597595)×1[0.25]. MicroSeq revealed that his sSMC has contained the region of chromosome 16 between 24979733 and 34023115 (GRCh37). For patient 2, karyotyping and reverse FISH revealed that she has a karyotype of mos 47, XX, + mar[37]/46, XX[23].rev ish CEN5, and CNV analysis has yielded a result of seq[GRCh37]dup(5)(p12q11.2)chr5: g(45120001_56000000)dup[0.8]. MicroSeq results revealed that her sSMC has contained the region of chromosome 5 between 45132364 and 55967870(GRCh37). After genetic counseling, both couples had opted in vitro fertilization (IVF) treatment and preimplantation genetic testing (PGT). Conclusion:For individuals harboring sSMCs, it is vital to delineate the origin and structural characteristics of the sSMCs for their genetic counseling and reproductive guidance. Preimplantation genetic testing after microdissection combined with high-throughput whole genome sequencing (MicroSeq-PGT) can provide an alternative treatment for carrier couples with a high genetic risk.

OBJECTIVE:To establish the quality standard of Hirudo nipponica freeze-dried powder(called"freeze-dried powder"for short),and to provide reference for controlling its quality. METHODS:A total of 3 batches of freeze-dried powder were collected,identified and tested according to the requirements of H. nipponica stated in 2015 edition of Chinese Pharmacopoeia(part Ⅰ)(shorted for pharmacopoeia);the antithrombin activity was also analyzed. The maximum tolerated dose (MTD)was used to investigate the toxicity. The stability was determined by designing temperature,humidity and strong light exposure tests. RESULTS:In the TLC of test sample,the same red spots were found in the corresponding location of the control drug chromatogram,and the same orange-red fluorescence spots were shown under the UV light(365 nm). Average content of moisture in 3 batches of samples was 2.61%,and the levels of total ash,acid-insoluble ash,pH aflatoxin and antithrombin activity were 2.83%,0.38%,6.92,0.28 μg/kg and 257.0 U/g,respectively. The content of Pb,Cd,As and Cu were in line with the requirements of pharmacopoeia except that the content of Hg was slightly higher than lower limit of H. nipponica in pharmacopoeia. Results of MTD showed that no death and ADR was found in mice after giving 26.4 g/kg freeze-dried powder by the amount of crude drug,which was 58 times as large as the maximum dosage that the pharmacopoeia described. Under the condition of 20, 40 ℃ and strong light exposure [(4 500±500)Lx],the anticoagulase activity of freeze-dried powder decreased significantly over time,while the anticoagulase activity of freeze-dried powder stored at 40 ℃ for 6 months was in line with the requirements of pharmacopoeia. Under the condition of high humidity(relative humidity were 90%,75%),freeze-dried powder showed a strong hygroscopicity. CONCLUSIONS:Established quality evaluation standard for freeze-dried powder according to pharmacopoeia standard could be used to control its quality.

Objective To explore the application value of DOSE index score in the peitients with chronic obstructive pulmonary disease.Methods 122 cases of plateau COPD patients were followed up for 12 months,and we recorded and analyzed the patient's health and life.We also recorde FEV 1 and DOSE scores of the patients with COPD,and record the COPD risk events,including the number of respiratory failure and death,and the times of hospitalization,total such confinement,outpatient expenses,hospitalization expenses,mMRC,and scored in the number of exacerbations,etc.Results The DOSE index score was negatively correlated with FEV1％ pred (r=0.73,P ＜ 0.05) for 122 COPD patients,and were positively correlated with mMRC (r=085,P ＜ 0.01),the annual number of exacerbations (r=0.71,P ＜ 0.01),respiratory failure (r=0.65,P ＜ 0.01),heart failure (r=0.50,P ＜ 0.01),number of outpatient service (r=0.12,P＜0.01),hospitalization time (r=0.70,P＜0.01),the totalsuchconfinement (r=0.66,P＜0.01),outpatient expenses (r=0.13,P＞ 0.13),hospitalization expenses (r=0.65,P＜0.01).ROC curve was used to analyzed the cut-off point and curve area of COPD DOSE index.Conclusion The DOSE index is a simple COPD assessment tools,and is closely related to the prognosis of patients and health.

Compared with that for botanical drugs and animal-derived drugs, the identification study for mineral traditional Chi-nese medicines is relatively weak. The traditional identification methods can’ t meet the quality control requirements of mineral tradi-tional Chinese medicines, and the application of modern analysis techniques are needed urgently in the systematic research of mineral traditional Chinese medicines. In the paper, the identification of traditional methods combined with some modern analysis techniques such as X-ray diffraction, near infrared spectroscopy and Raman spectroscopy for mineral traditional Chinese medicines was summarized and analyzed to provide basic idea and methods for the systematic identification construction of mineral traditional Chinese medicines.

Objective:To develop a qualitative analysis model for the fast identification of Dens Draconis and its adulterants by NIR correlation coefficient method. Methods:On the basis of the traditional morphological identification, the spectra were collected u-sing the fiber accessory of a near-infrared spectroradiometer. The reference spectra were set up using the NIR spectra of certified Dens Draconis. The characteristic spectral section was chosen and the appropriate threshold was set to establish a qualitative analysis model for the rapid identification of Dens Draconis and its adulterant. Results:The spectral section of 5 000-4 200 cm-1 was selected as the characteristic spectral section, the correlation coefficient of Dens Draconis and its adulterant was calculated in training set samples, and 92. 67% was used as the threshold. Totally 10 batches of validation set samples were validated the qualitative analysis model, and the prediction accuracy was 90%. Conclusion:The method has good prediction ability, and can be used in the rapid identification of Dens Draconis and its adulterant.

To establish seven kinds of minerals containing sulfate kind of near infrared spectral identification method
of traditional Chinese medicine (TCM). 7 species of mineral medicine containing sulfate after crushing sieving, measure all the samples in 12 000-4 000 cm-1 section within the scope of the near infrared spectrum, spectrum signal by different pretreatment methods, after the screening of the different characteristics of the spectrum to extract the effective information, using cluster analysis method for qualitative identification. In 8 600-8 100 cm-1, 5 843-4 245 cm-1, 7 096-6 337 cm -1 section within the scope of the atlas signal after the vector normalization and multiple scattering correction, K-average clustering analysis to 20 batches sulfate kind of mineral medicine is divided into seven categories, the results of the analysis method and the traditional traits identification results are basically identical. This method is simple, fast, and can be used for these minerals containing sulfate class the qualitative identification and quality control of Chinese traditional medicine.

OBJECTIVE: The aim of this study was to evaluate the clinical features of cochlear reimplantation. To review our experience of cochlear reimplant surgery. METHOD: Retrospective analysis of all 25 cochlear reimplant surgeries between 2002 and 2012. Causes of revision operations, number of electrode channels inserted, surgical findings and postoperative speech performances were analyzed. RESULT: Causes of reimplantation were eight hard failures; eight poor implanted electrodes position, four poor outcome, three skin flap infection lead to implant device exposure, one postoperative symptoms of facial nerve stimulation, one postoperative temporal bone lesions. All cochlear reimplantations were successfully performed in our hospital, audiologic performances were stable or improved following reimplantation in most of cases. CONCLUSION Cochlear implant surgeons should have a good knowledge of how to diagnose cochlear implant failures and how to deal with medical complications related to cochlear implantation. Medical and audiologic outcomes are generally excellent. Cochlear reimplantation appears to be a safe and effective.
Cochlea ; Cochlear Implantation ; Cochlear Implants ; Electrodes ; Electrodes, Implanted ; Facial Nerve ; Humans ; Postoperative Period ; Reoperation ; Retrospective Studies ; Speech ; Speech Perception ; Surgical Flaps ; Temporal Bone

OBJECTIVE: To investigate cochlear implantation surgical techniques and postoperative results in patients with cochlear ossification. METHOD: Twenty-nine cochlear ossification patients with cochlear implantation in our department were retrospectively studied during 1997-2011. Preoperative imaging and electrophysiological assessment were done to classify the cochlear ossification of all the patients. Categories of auditory performance and speech intelligibility rating were detected to assess the outcome of cochlear implant postoperatively. RESULT: Among 29 cases with cochlear ossification, 19 cases were grade II, 4 cases were grade I, 4 cases were grade III, and 2 cases were apical turn ossification. Among 23 patients with cochlear ossification grade I and II, 17 cases were totally cochlear array insertion, and 6 cases were partial cochlear array insertion. Patients with cochlear ossification grade III were all partial cochlear array insertion. Most patients achieved good hearing and language ability after cochlear implantation. CONCLUSION Cochlear implantation can be successfully performed on the basis of systematic preoperative assessment and some patients can achieve good postoperative results in patients with cochlear ossification. Intraoperative electrical stimulation of the auditory evoked response provides a good method to assess the residual spiral nerve function.
Adolescent ; Adult ; Child ; Child, Preschool ; Cochlea ; pathology ; Cochlear Implantation ; methods ; Female ; Follow-Up Studies ; Hearing Loss, Sensorineural ; etiology ; surgery ; Humans ; Male ; Middle Aged ; Ossification, Heterotopic ; complications ; Retrospective Studies ; Treatment Outcome ; Young Adult

This study was aimed to establish a qualitative model of near-infrared spectroscopy in order to accurately and rapidly identify several mineral Chinese medicinals from fossil including Os Draconis, Dens Draconis, Fossil Shell of Spirifer, and Fossil Crabs. The near-infrared diffuse reflectance spectroscopy combined with OPUS software was used to analyze the spectral characteristics of these samples. The pattern recognition method was explored through cluster analysis. And the accuracy of the model was verified. The results showed that these mineral Chinese medicinals from fossil had their characteristics absorption so that they can be quickly and accurately differentiated from each other through pattern recognition method. It was concluded that based on near-infrared spectroscopic mod-eling, these mineral Chinese medicinals from fossil including Os Draconis, Dens Draconis, Fossil Shell of Spirifer, and Fossil Crabs can be quickly and accurately identified.

Objective: This study aimed to discriminate between Eupatorii Herba and its adulterants in order to guarantee the quality and clinical curative effect of this medicinal material. Methods: Genomic DNA extracted from Eupatorii Herba was used as templates. The internal transcribed spacer 2 (ITS2) of nuclear ribosomal DNA was amplified. Sequence assembly and consensus sequence generation were performed by CodonCode Aligner. The intraspecific and interspecific genetic distances of Eupatorii Herba and its adulterants were computed by MEGA5 and the phylogenetic tree was constructed using the neighbor-joining (NJ) method. Results: The length of ITS2 sequence of Eupatorii Herba was 218 bp. The maximum intraspecific genetic distance (K2P distance) of Eupatorii Herba was 0.0092. The minimum interspecific genetic distance of Eupatorii Herba and its adulterants was 0.024. The NJ trees showed that the ITS2 sequence would be used to identify Eupatorii Herba and its adulterants. Con-clusion: ITS2 sequence was able to identify Eupatorii Herba and its adulterants correctly and it provided a new technique to ensure clinical safety in utilization of traditional Chinese medicines.