Objective:To train a deep convolutional neural networks (CNN) using a labeled data set to classify the metaphase chromosomes and test its accuracy for chromosomal identification.Methods:Three thousand and three hundred individuals undergoing surveillance for chromosomal disorders at the Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Maternal and Child Health Care Hospital from January 2013 to July 2019 were enrolled. A total of 3 300×46 chromosome images were included, of which 70% were used as the training set and 30% were used as the test set for the deep CNN. The accuracy of chromosome counting and "cutting + recognition + arrangement + automatic analysis" of the model were respectively evaluated. Another 80 images were collected to record the time and accuracy of chromosome classification by geneticists and the model, respectively, so as to assess the practical value of the model.Results:The CNN model was used to count the chromosomes with an accuracy of 61.81%, and the "cutting + recognition + arrangement + automatic analysis" accuracy of the model was 96.16%. Compared with manual operation, the classification time of the CNN model has been greatly reduced, and its karyotyping accuracy was only 3.58% lower than that of geneticists.Conclusion:The CNN model has a high performance for chromosome classification and can significantly reduce the work load involved with the segmentation and classification and improve the efficiency of chromosomal karyotyping, thereby has a broad application prospect.

OBJECTIVE：To d iscuss the monitoring platform of rational use management indexes of key monitored drugs ，and to provide reference for improving their clinical application management. METHODS ：The method of literature research and expert demonstration was adopted ，the indexes of key monitored drugs in medical institutions were put forward. RESULTS & CONCLUSIONS：Finally，Eight general indexes as the list of top 20 drugs purchased by medical institutions ，the specifications of key monitored drugs purchased ，the utilization rate of key monitored drugs of inpatient ，the proportion of key monitored drugs revenue，the increase in the cost of key monitored drugs of inpatient ，the increase in the cost of key monitored drug of single inpatient，the increase of the cost per time of key monitored drugs of inpatient ，the proportion of doctor ’s order review for key monitored drugs were defined. Four major data acquisition projects as the general information of medical institutions ，medical record homepage ，inpatient medication data ，and medical institution drug procurement data were also defined. The monitoring platform of key monitored drugs in medical institutions can provide reference for improving the management of clinical application of key monitored drugs.

A 17-month-old female infant received combination chemotherapy with cisplatin, etoposide, and bleomycin (IV infusion of cisplatin 8.5 mg on day 1 to 5, IV infusion of etoposide 42 mg on day 1 to 5, IV infusion of bleomycin 6 units on day 1) after yolk sac tumor resection. Two weeks after finishing the chemotherapy, the child developed hearing loss. Her hearing thresholds evaluation showed 32 decibel for the left ear and 45 decibel for the right ear. Two women in her mother′s family were known to be with acquired deafness by questioning the family history. The results of deafness gene screening showed that the child was a carrier of the mitochondrion 12SrRNA gene m.1555A>G site homogeneous mutation, so it was considered that the hearing loss of the child was related to her deafness susceptibility gene and ototoxicity of cisplatin.

A 17-month-old female infant received combination chemotherapy with cisplatin, etoposide, and bleomycin (IV infusion of cisplatin 8.5 mg on day 1 to 5, IV infusion of etoposide 42 mg on day 1 to 5, IV infusion of bleomycin 6 units on day 1) after yolk sac tumor resection. Two weeks after finishing the chemotherapy, the child developed hearing loss. Her hearing thresholds evaluation showed 32 decibel for the left ear and 45 decibel for the right ear. Two women in her mother′s family were known to be with acquired deafness by questioning the family history. The results of deafness gene screening showed that the child was a carrier of the mitochondrion 12SrRNA gene m.1555A>G site homogeneous mutation, so it was considered that the hearing loss of the child was related to her deafness susceptibility gene and ototoxicity of cisplatin.

A 51-year-old male patient received an operation treatment for paranasal sinusitis induced by radiotherapy and chemotherapy of nasopharyngeal carcinoma. One oxycodone and acetaminophen tablet (each tablet contains oxycodone hydrochloride 5 mg and acetaminophen 325 mg) was given orally thrice daily before and after the operation. Pregabalin 75 mg twice daily was added because of the poor analgesic effectiveness. During the treatment, oral oxycodone hydrochloride 10 mg was given once daily by his family members for 2 days. Two days after the addition of pregabalin, the patient developed mental disorders, such as delirium, irritability, involuntary convulsions of limbs, cognitive impairment, and disorientation. All above-mentioned analgesics were discontinued and dexmedetomidine was given for pain relief and sedation. Three days later, the mental state of the patient was improved, there was no obvious delirium, the discrimination and orientation returned to normal, and dexmetomidine was discontinued. There was an obvious time correlation between the occurrence and disappearance of mental disorders and the combination of analgesic drugs. Referring to the previous literature, it was considered that the mental disorders of the patient were caused by the interaction between oxycodone and pregabalin.

A 51-year-old male patient received an operation treatment for paranasal sinusitis induced by radiotherapy and chemotherapy of nasopharyngeal carcinoma. One oxycodone and acetaminophen tablet (each tablet contains oxycodone hydrochloride 5 mg and acetaminophen 325 mg) was given orally thrice daily before and after the operation. Pregabalin 75 mg twice daily was added because of the poor analgesic effectiveness. During the treatment, oral oxycodone hydrochloride 10 mg was given once daily by his family members for 2 days. Two days after the addition of pregabalin, the patient developed mental disorders, such as delirium, irritability, involuntary convulsions of limbs, cognitive impairment, and disorientation. All above-mentioned analgesics were discontinued and dexmedetomidine was given for pain relief and sedation. Three days later, the mental state of the patient was improved, there was no obvious delirium, the discrimination and orientation returned to normal, and dexmetomidine was discontinued. There was an obvious time correlation between the occurrence and disappearance of mental disorders and the combination of analgesic drugs. Referring to the previous literature, it was considered that the mental disorders of the patient were caused by the interaction between oxycodone and pregabalin.

Objective: To assess the value of non-invasive prenatal testing (NIPT) for the identification of fetal chromosomal aneuploidies. Methods: For 9470 pregnant women with a moderate-to-high risk by conventional serological screening or advanced maternal age, peripheral venous blood samples were collected and, following extraction of free fetal DNA, subjected to large-scale parallel sequencing on a Illumina Hiseq2000 platform. Those with a high risk by NIPT were validated by invasive prenatal diagnosis. Results: Out of the 9470 samples, 194 cases (2.0%) were positive by NIPT testing. These included 50 trisomy 21, 11 trisomy 18, 17 trisomy 13, 44 other autosomal aneuploidies, 55 sex chromosomal aneuploidies, and 17 chromosomal copy number variations. As validated by amniotic fluid or umbilical blood chromosomal karyotyping analysis, NIPT has a false positive rate of 2.0%, 18.2%, 41.2%, 97.7%, 81.8%, 94.1%, respectively. The test has a sensitivity of 100% and a specificity of 98.79%. Conclusion For common chromosomal aneuploidies such as trisomy 21 and trisomy 18, NIPT has a good sensitivity and specificity, therefore has good value for clinical application.

A 32﹣year﹣old woman received IV infusion of doxorubicin hydrochloride liposomes injection 20 mg,added into 5% glucose injection 250 ml,for malignant lymphoma. About 1 minute after the initiation of the IV infusion,the patient developed facial flushing and itchy throat. Two minutes later,the patient developed sudden convulsions, loss of consciousness, binocular gaze, trismus, and urinary incontinence. Anaphylactic shock was diagnosed and the drug was discontinued immediately. Treatments such as intravenous injections of adrenaline hydrochloride injection,dexamethasone sodium phosphate injection,and methylprednisolone sodium succinate for injection,oxygen inhalation,intravenous injections of nikethamide injection,lobeline hydrochloride injection,and norepinephrine bitartrate injection,and cardiopulmonary resuscitation were given successively. However,the patient had been in a deep coma without spontaneous breathing and her blood pressure and urination needed to be maintained by drugs. On day 112 of hospitalization,cerebrovascular color ultrasound showed spectrum changes of brain death. On day 253,the patient was discharged at the request of his family members.

A 32﹣year﹣old woman received IV infusion of doxorubicin hydrochloride liposomes injection 20 mg,added into 5% glucose injection 250 ml,for malignant lymphoma. About 1 minute after the initiation of the IV infusion,the patient developed facial flushing and itchy throat. Two minutes later,the patient developed sudden convulsions, loss of consciousness, binocular gaze, trismus, and urinary incontinence. Anaphylactic shock was diagnosed and the drug was discontinued immediately. Treatments such as intravenous injections of adrenaline hydrochloride injection,dexamethasone sodium phosphate injection,and methylprednisolone sodium succinate for injection,oxygen inhalation,intravenous injections of nikethamide injection,lobeline hydrochloride injection,and norepinephrine bitartrate injection,and cardiopulmonary resuscitation were given successively. However,the patient had been in a deep coma without spontaneous breathing and her blood pressure and urination needed to be maintained by drugs. On day 112 of hospitalization,cerebrovascular color ultrasound showed spectrum changes of brain death. On day 253,the patient was discharged at the request of his family members.

OBJECTIVETo assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo.

METHODSFor 2779 women, results of conventional karyotyping analysis and BoBs assay were compared.

RESULTSFor common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs.

CONCLUSIONThe BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.

Adult ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Artificial, Bacterial ; genetics ; Female ; Humans ; Karyotyping ; methods ; Pregnancy ; Prenatal Diagnosis ; methods