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OBJECTIVE：To establish the eva luation criteria for the rationality of tumor nutritional standardized treatment ，and to provide reference for nutritional standardized treatment in tumer patients . METHODS ：Based on domestic and foreign guidelines or expert consensus ，the rationality evaluation standard of tumor nutritional standardized treatmentwas formulated in our hospital （Bozhou Municipal People ’s Hospital ）. 50 nutritional treatment medical records in our hospital from Jan. to Jun. 2019 were evaluated by weighted TOPSIS ；according to the evaluation results ，nutritional intervention was carried out ，and 50 nutritional treatment medical records （group B ）from Aug. to Dec. 2019 were re-evaluated by the same method after intervention. RESULTS ： The established evaluation criteria for the rationality of tumor nutritional standardized treatment in our hospital included 18 indicators，such as malnutrition diagnosis ，description of the nature of malnutrition ，nutrition screening and evaluation ，etc. After analysis ，the rational rate of nutritional treatment was only 18％ in group A （Ci of ideal solution with 9 medical records≥0.6），and 78％ in group B （Ci of ideal solution with59 medical records ≥0.6）. There was statistical significance in the rationality of nutritional treatment before and after nutritional intervention （Ci≥0.6）（P＜0.05）. CONCLUSIONS ：The established rational evaluation method of tumor nutritional standardized treatment is feasible ，and the evaluation results are intuitive and reasonable. Nutrition intervention is helpful to reduce the irrational rate of nutritional treatment.
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OBJECTIVE@#To carry out prenatal diagnosis for a fetus with Pallister-killian syndrome (PKS).@*METHODS@#The fetus was found to have limb malformations at 23rd gestational week. With informed consent from its parents, amniotic fluid sample was taken from the fetus and subjected to chromosomal karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) assay.@*RESULTS@#G-banding analysis suggested the fetus has a mos47,XY,+mar[55]/46,XY[10] karyotype. CMA analysis of the cultured amniocytes with CytoScan 750K microarray revealed a segmental tetrasomy duplication of 12p13.33p11.1. FISH confirmed a 70% mosaicism of tetrasomy 12p in the metaphase amniocytes with 12pter/12qter probes.@*CONCLUSION@#Combined use of G-banding karyotyping, CMA and FISH analysis has enabled diagnosis of PKS in the fetus. Although short limb is a common feature of PKS, unequal femur length has not been reported previously, which has expanded the spectrum of PKS-associated limb abnormalities.
Subject(s)
Female , Humans , Pregnancy , Chromosome Disorders/genetics , Chromosomes, Human, Pair 12/genetics , Fetus , In Situ Hybridization, Fluorescence , Mosaicism , Prenatal DiagnosisABSTRACT
Objective@#To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage.@*Methods@#From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results.@*Results@#In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb).@*Conclusion@#cPAS-based high-throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).
ABSTRACT
Objective To evaluate the application of combinatorial probe anchor synthesis (cPAS)?based high?throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. Methods From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ?500 high?throughput platform. The performance of low coverage whole genome sequencing was assessed by comparing to FISH results. Results In 595 spontaneous miscarried specimens, low coverage whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as copy number variation (≥5 Mb). Conclusion cPAS?based high?throughput low coverage whole genome sequencing is a reliable method in detecting chromosomal aberrations inspontaneous abortion tissues, including chromosome aneuploidies, mosaicisms and copy number variation (≥5 Mb).
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Objective To observe the effects of kidney-tonifying therapy on spatial learning, memory abilities and ultrastructure of hippocampal dentate gyrus ( DG ) cells of kidney deficiency rats induced by sexual intemperance. Methods SD rats with low reproductive capacity were caused by continuously mating for 6 months, and then were randomly divided into 5 groups, namely model group, low- and high-dose of Liuwei Dihuang pills (LDP) groups (in the dosage of 4.8, 9.6 g·kg-1·d-1), low-and high-dose of Jingui Shenqi pills (JSP) group (in the dosage of 5.2, 10.4 g·kg-1·d-1), 8 rats in each group. Except the model group, the other groups were respectively given with the corresponding medication. SD rats aged 2 months served as the normal control group. After treatment for 30 continuous days, the learning and memory abilities of rats were examined by Morris Water Maze. The cell ultra structure of hippocampal dentate gyrus was observed by transmission electron microscopy. Results The results of the place navigation test of Morris water maze showed that the escape latency of rats was prolonged obviously in the model group compared with that of the normal control group (P<0.01), and the escape latency of rats in the medication groups was shorter than the kidney deficiency model group (P<0.05 or P<0.01). The results of spatial probe test showed that the residence time in the former hidden platform quadrant and its surrounding area was significantly shortened in the model group compared with that of the normal control group ( P<0.01) , but was prolonged after medication of high-dose JSP ( P<0.05 or P<0.01 compared with that of the model group). Under the electron microscope, the cell ultra structure lesions of hippocampal dentate gyrus were much relieved in the high-dose LDP group, and high-dose JSP group as compared with those of the model group. Conclusion ( 1) Long-term sexual intemperance can impair spatial learning and memory abilities and causes the cell ultra structure lesions of hippocampal dentate gyrus of rats. (2) The kidney-tonifying therapy can significantly alleviate the spatial learning and memory disturbance and the cell ultra structure lesions of hippocampal dentate gyrus induced by sexual intemperance. ( 3) There are not significant differences between the two kidney-tonifying therapies in improving spatial learning and relieving cell ultra structure lesions. The effect of JSP on improving spatial memory abilities is better than that of LDP.