Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

Objective: To optimize the formulation and preparation technology of hydroxy safflower yellow A solid lipid nanoparticles and evaluate its quality. Metheds: Hydroxy safflower yellow A solid lipid nanoparticles were prepared by the method of hot melt emulsification ultrasonic-low temperature using hydroxypropyl methylcellulose as a lipid material and glyceryl monostearate as an emulsifier. Using entrapment efficiency as indexes, the amount of hydroxypropyl methylcellulose, purified water, glyceryl monostearate, and Tween 80 aqueous solution (1%) as factors, orthogonal test was applied to optimize the formulation and preparation technology. Dialysis method was used to measure encapsulation efficiency. The morphology and uniformity of the nanoparticles were observed by transmission scanning electron microscopy. The particle size, polydispersion index and Zeta potential were determined by nano-particle size analyzer. And hydroxy safflower yellow A solid lipid nanoparticles sustained releasing characteristics was evaluated by the percentage of cumulative drug release. Results: The optimal process of prepared hydroxy safflower yellow A solid lipid nanoparticles was 5 mg of hydroxypropyl methylcellulose, 0.2 ml of purified water, 100 mg of glyceryl monostearate, and 1.8 ml of Tween 80 aqueous solution (1%). The size of the prepared nanoparticles was uniform and spherical. And the average particle size were (99.85 ± 3.04) nm, polydispersion index were (0.390 ± 0.021), Zeta potential were (-27.63 ± 2.12) mV, and the encapsulation efficiency of the hydroxy safflower yellow A solid lipid nanoparticles were (63.35 ± 2.65)%. The release rate of the nanoparticles was (44.35 ± 0.49)%. Conclusions The prepared hydroxy safflower yellow A solid lipid nanoparticles have good uniformity and good sustained release properties.

This study was designed to evaluate the effect of Bazhen decoction on bone marrow depression induced by cyclophosphamide (CY) in mice. An experimental model of mouse bone marrow injury was established through cyclophosphamide induced and the following phenomena were observed. The techniques of culture of hematopoietic progenitor cell and hematopoietic growth factor assay were used. Bazhen decoction could obviously promote the proliferation of bone marrow cells of anaemic mice. The culture media of spleen cell, macrophage, lung and skeletal muscle treated with Bazhen decoction had much stronger stimulating effects on hematopoietic cells. The bone marrow cells of the anaemic mice could yield TNF through Bazhen decoction treatment. It was suggested that Bazhen decoction is clinically a hopeful drug used to cure bone marrow depression and attenuate the side effects of CY.
Anemia ; chemically induced ; drug therapy ; Animals ; Cyclophosphamide ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Hematopoiesis ; drug effects ; Hematopoietic System ; drug effects ; Mice ; Phytotherapy ; Tumor Necrosis Factors ; biosynthesis

Objective To explore the role of resveratrol (RES) on cardiomyocyte hypertrophy of rat induced by isoproternol (ISO) and the effect of Res on the expression of GRP78 and GRP94 in endoplasmic reticulum stress of cardiomyocyte hypertrophy.Methods Hypertrophic model of cardiomyocytes was induced by ISO.Cardiomyocytes was divided into four group: control group, the model group, RES+ISO group and RES group.Hypertrophy status of cardiomyocytes was determined by Leica 2Q500 image analysis system measuring the cell surface area and the gene expression of ANP.The content of LDH and MDA was measured in different groups, and the protein expressions of GRP78 and GRP94 were detected by Western blot.Results Compared with control group, ISO induced cardiomyocytes hypertrophy, endoplasmic reticulum stress related factors GRP78 and GRP94 protein expression were increased, compared with ISO group, RES intervention effectively suppressed the cardiomyocytes hyper-trophy induced by ISO, reduced the protein expression of GRP78 and GRP94, at the same time, reduced lactate dehydrogenase (LDH) and malondialdehyde (MDA) release in cell medium.Conclusions Treatment of RES may protect cardiomyocytes hypertrophy, which is partially mediated by inhibiting the expression of ERS factors GRP78 and GRP94.

Objective:To explore the clinical features, auxiliary examinations, therapies and prognoses of patients with antibodies targeting glutamic acid decarboxylase 65 (GAD65).Methods:The nine patients with anti-GAD65 neuroimmune disease, admitted to Xuanwu Hospital, Capital Medical University from October 2018 to October 2020, were analyzed, retrospectively.Results:The onset age of nine cases was 17-68 (43.6±20.5) years old, and six cases were female. Two cases had preceding infection. The data of initial symptoms were collected and analyzed, including epileptic onset in four cases, memory impairment in two cases, dizziness in two cases and limb stiffness in one case. As the disease continued to advance, one case developed cerebellar ataxia, one case presented with isolated epilepsy, five cases suffered from limbic encephalitis, one case had stiffman syndrome, one case had brainstem encephalitis. Five cases had antibodies against thyroid peroxidase. Brain magnetic resonance imaging scan showed abnormal signals of T 2/fluid attenuated inversion recovery sequences in four cases, mainly involved bilateral temporal lobes or hippocampus. Epileptiform discharges of frontal or temporal regions of electroencephalography were observed in six cases. All cases received immunotherapy and long-term follow-up was performed in seven cases. Four cases benefited from the immunotherapy. Among the four patients, one fully recovered and returned to work, the other three cases developed neurologic sequelae, including seizures (two cases), and short-term memory loss (one case). The remaining three patients were unresponsive to treatment. Conclusions:GAD65 antibody-mediated neuroimmune disease is a rare neurological disorder, presenting with various syndromes including limbic encephalitis or stiffman syndrome, which is more susceptible to young female. The clinical manifestations included epileptic onset, limb stiffness, cognitive impairment and cerebellar ataxia, etc. Detection of GAD65 antibody in serum or cerebrospinal fluid was gold standard. Early immunotherapy contributed to improving the prognosis of patients, especially for those patients with epileptic onset as the main symptom.

Objective:To investigate the effect of mind mapping on the discharge readiness of patients undergoing first coronary stent implantation, so as to provide basis for seeking effective discharge guidance in clinical practice.Methods:One hundred patients who were hospitalized in the Department of Cardiology, the Second Affiliated Hospital of Dalian Medical University from December 2019 to August 2020 and who underwent coronary stent implantation for the first time were selected as the study objects. They were divided into the control group and the experimental group with 50 cases in each group by the random number table method. The control group was given routine discharge guidance, and the experimental group was given discharge guidance using mind mapping. Readiness for Hospital Discharge Scale and Quality of Discharge Teaching Scale were used to compare the differences of discharge readiness and discharge guidance quality between the two groups after intervention.Results:The personal status, adaptability, predictive support and the total score of discharge readiness in the experimental group were (25.18 ± 3.79), (45.24 ± 3.63), (36.62 ± 3.63), (107.04 ± 8.92) points, which were all higher than those in the control group (23.34 ± 3.04), (41.68 ± 3.62), (35.14 ± 2.14), (100.16 ± 7.36) points, with statistically significant differences ( t values were -4.91--2.48, all P<0.05). The actual acquired content, guiding skills and results, total scores of discharge guidance quality of patients in the experimental group were (56.66 ± 6.06), (94.46 ± 4.33), (151.12 ± 8.26) points, which were all higher than those in the control group (45.38 ± 9.19), (89.44 ± 10.87), (134.82 ± 14.31) points, with statistically significant differences ( t values were -7.25, -3.03, -6.97, all P<0.05). Conclusions:Mind mapping can effectively improve the discharge preparation degree and discharge guidance quality of patients undergoing coronary stent implantation for the first time, and it is a simple and practical discharge guidance tool.

Objective:To understand the level of thirst distress in heart failure and analyze its influencing factors, in order to provide a theoretical basis for implementing the intervention measures to alleviate patients′ thirst distress.Methods:A total of 187 patients with heart failure who met the inclusion criteria from the First Affiliated Hospital and the Second Affiliated Hospital of Dalian Medical University from November 2019 to October 2020 were selected as the research objects. The General Information Questionnaire, Thirst Distress Scale-Heart Failure, Generalized Anxiety Disorder 7-item Scale, Patient Health Questionaire-9 and Brief Illness Perception Questionnaire were used to investigate heart failure patients. Multiple linear regression was used to explore the influencing factors of heart failure patients′ thirst distress.Results:The score of thirst distress in heart failure patients was (23.95 ± 4.21), multiple stepwise linear regression analysis showed that heart function grade, diuretic usage, anxiety, depression and disease perception were the influencing factors of thirst distress in patients with heart failure, which explained 41.9% of the thirst distress in heart failure patients.Conclusions:The thirst distress of heart failure patients is in the middle level, and its thirst distress is affected by many factors, clinical medical staff should pay attention to the severity of thirst distress in patients with heart failure, actively develop different intervention measures to reduce patients′ thirst sensation, and explore effective schemes to alleviate thirst distress in patients with heart failure.

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

PURPOSE: Four polymorphisms, -765G>C, -1195G>A, 8473T>C, and Val511Ala, in the cyclooxygenase-2 (COX-2) gene were identified to be associated with colorectal cancer (CRC) risk. However, the results are inconsistent. The objective of this meta-analysis was to evaluate the association between these four polymorphisms and the risk of CRC. MATERIALS AND METHODS: All eligible case-control studies published up to December 2012 on the association between the four polymorphisms of COX-2 and CRC risk were identified by searching PubMed and Web of Science. The CRC risk associated with the four polymorphisms of the COX-2 gene was estimated for each study by odds ratio (OR) together with its 95 % confidence interval (CI), respectively. RESULTS: A total of 15 case-control studies were included. Overall, no evidence has indicated that the -1195A allele, -765C allele, 8473C allele, and 511Ala allele are associated with susceptibility to CRC (-1195G>A: OR=1.11, 95 % CI: 0.82-1.51, p=0.78; -765G>C: OR=1.08, 95 % CI: 0.96-1.21, p=0.07; 8473T>C: OR=1.03, 95 % CI: 0.89-1.18, p=0.91; Val511Ala: OR=0.71, 95 % CI: 0.46-1.09, p=0.94). However, stratified analysis with ethnicity indicated that individuals with -765GC or GC/CC genotypes had an increased risk of CRC among Asian populations (GC vs. GG: OR=1.05, 95 % CI: 0.87-1.28, p=0.03; GC+CC vs. GG: OR=1.08, 95 % CI: 0.96-1.21, p=0.07). CONCLUSION: This meta-analysis indicated that -765G>C polymorphism was significantly associated with susceptibility to CRC in Asian populations.
Asian Continental Ancestry Group ; Case-Control Studies ; Colorectal Neoplasms/*genetics ; Cyclooxygenase 2/*genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Polymorphism, Genetic/*genetics

Clinical biochemical examination is an important part of medical laboratory, and it is also the key and difficult point of all kinds of examinations.However,the teaching of clinical biochemistry is easily to enter the misunderstanding of "focusing only on the instrument operation, while others depend on self-study". There is even confusion that teachers don′t know what to teach and students don′t know what to learn.In this paper, the teaching experience of the clinical biochemical laboratory is described,formulated a scientific block training program, adopted the teaching mode of combining tutorial responsibility with daily teaching,flexibly used a variety of teaching methods and procedural examinations, and greatly improved the teaching quality.