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1.
China Pharmacy ; (12): 666-672, 2022.
Article in Chinese | WPRIM | ID: wpr-923000

ABSTRACT

OBJECTIVE To investigate t he attitude of endocrinology physicians to clinical conversion and substitution of insulin drugs ,and to provide basis for improving the centralized procurement program of insulin. METHODS The proportion of convertible and substitutable insulin recognized by endocrinology physicians was investigated by questionnaire from 4 dimensions: intergenerational level ,bargaining group level ,common name level and brand/specification level. The subjects were endocrinology physicians in the third grade class A general hospitals in Nanchang. RESULTS A total of 89 questionnaires were successfully distributed,accounting for 80.2% of the on-the-job endocrinology physicians (111 in total )in the third grade class A general hospitals in Nanchang. Eighty-nine questionnaires were collected ,one of which was invalid ,and the effective rate was 98.9%. At the intergenerational level ,93.2% of endocrinology physicians preferred insulin analogues. At the bargaining group level ,the weighted average of the convertible ratio between group 3 and group 4 approved by physicians was 63.9%. At the levels of common name and brand/specification ,the weighted averages of convertible proportion of each group were more than 70%. CONCLUSIONS The method of insulin grouping in Wuhan is reasonable which can complete clinical conversion and substitution of insulin in the group safely. It is suggested to cancel long-acting human insulin group. The weighted average of the proportion of convertible and substitutable drugs in the group is high. It is suggested to increase the agreed purchase volume of insulin and conduct“volume price linked ”negotiations. When the surveyed physicians choose the initial treatment scheme of insulin ,they pay more attention to the factors such as efficacy and safety ,so the replacement of insulin should be based on the clinical efficacy and drug safety.

2.
Acta Pharmaceutica Sinica ; (12): 568-575, 2022.
Article in Chinese | WPRIM | ID: wpr-922892

ABSTRACT

Type 2 diabetes is a hypermetabolic disease characterized with disorders of glucose/lipid metabolism, absolute or relative lack of insulin, and can induce skeletal muscle atrophy. Hyperglycemia, hyperlipidemia, insulin resistance, and abnormal release of inflammatory factors can lead to abnormal signal transduction in skeletal muscle, thus make protein synthesis and degradation imbalance and eventually causing muscle atrophy. Under normal conditions, insulin-like growth factor 1 (IGF-1)/insulin can activate phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT). AKT not only increases protein synthesis through mammalian target protein of rapamycin (mTOR), but also phosphorylates forkhead box O (FoxO) transcription factor and then inhibits the transcription of several ubiquitin ligases (such as MAFbx/atrogin-1 and MuRF1), or autophagy related genes. The weakened IGF-1/PI3K/AKT pathway in type 2 diabetes is an important factor leading to skeletal muscle atrophy. Studies have shown that the commonly used anti-type 2 diabetic drugs have different effects in regulating the synthesis and degradation of skeletal muscle protein. Studies reported that drugs with effect of anti-diabetic muscle atrophy include thiazolidinediones, glucagon-like peptide analogs, glucose-sodium cotransporter 2 inhibitors, etc.; drugs that are still in controversial or even promote skeletal muscle atrophy include metformin, and some sulfonylurea or non-sulfonylurea insulin secretagogues. This article overviewed and analyzed the currently commonly used drugs for type 2 diabetes and summarized the related mechanisms, with the aim to provide references for the rational applications of drugs for type 2 diabetes.

3.
China Pharmacy ; (12): 563-568, 2022.
Article in Chinese | WPRIM | ID: wpr-920725

ABSTRACT

OBJECTIVE To co mpare the difference of liposoluble constitue nts in different processed products of Huaizhong No.1 Rehmannia glutionsa (fresh R. glutionsa ,R. glutionsa and prepared R. glutionsa ),and to evaluate its in vitro antioxidant activity preliminarily. METHODS Liposoluble extracts were extracted from 3 processed products of R. glutionsa by Soxhlet extraction. Their constituents were analyzed by gas chromatography-mass spectrometry. The spectral library of NIST 98 system was used to automatically retrieve the mass spectrum information of components ,and the structures of compounds were identified in combination with relevant literature and by comparing with eight peak index and EPA/NIH library. Relative contents of the components were calculated by using peak area normalization method with Hewlett Packard software. The antioxidant activities of liposoluble constituents in 3 processed products of R. glutionsa were investigated by 1,1-diphenyl-2-picrylhydrazyl(DPPH)free radical scavenging. RESULTS A total of 79 liposoluble components were identified from different processed products of R. glutionsa,and 48,52 and 37 liposoluble compounds were identified from fresh R. glutionsa ,R. glutionsa and prepared R. glutionsa,respectively;their relative contents accounted for 92.69%,86.29%,92.89% of the total components respectively. Among them ,there were 20 liposoluble compounds totally ,and their relative contents accounted for 88.73%,80.89% and 85.87% of liposoluble components in each processed product respectively ;they were mainly composed of fatty acids such as methyl linoleate,methyl palmitate and methyl oleate. In addition ,there were 18 unique liposoluble components in fresh R. glutionsa , mostly terpenoids ;there were 17 and 6 unique liposoluble components in R. glutionsa and prepared R. glutionsa ,mostly alkanes. The results of antioxidant experiment showed that median scavenging concentrations of liposoluble components to DPPH limeng free radical were 0.756,0.660,0.758 mg/mL,respectively. CONCLUSIONS The common liposoluble components in different processed products of R. glutionsa are mostly acids;the unique liposoluble components in fresh R. glutionsa are mostly terpenoids ,and those of R. glutionsa and prepared R. glutionsa are mostly alkanes ;the liposoluble constituents possess in vitro antioxidant activities.

4.
Article in Chinese | WPRIM | ID: wpr-912755

ABSTRACT

As more and more non-core services are outsourced to other companies, it is necessary for hospitals to build an effective outsourcing project supervision system to improve service quality and reduce potential risks. The authors introduced the construction practice of outsourcing project supervision system in the Second Affiliated Hospital of Zhejiang University School of Medicine of emphasizing four core elements: system guarantee, organization establishment, standard unification and quality monitoring. The authors also summarized five important aspects of building a thorough, consolidated, less risky and user-friendly outsourcing project supervision system: selecting suppliers carefully under unified standards; orienting dynamic supervision with details, problems and outcome; strengthening quality improvement and dual supervision equally; upgrading the concept of supervision and build a good cooperative relationship with suppliers; paying attention to the whole process management with learned lessons.

5.
Chinese Journal of Nephrology ; (12): 552-557, 2021.
Article in Chinese | WPRIM | ID: wpr-911882

ABSTRACT

Objective:To investigate the association between ambulatory arterial stiffness index (AASI) and renal poor prognosis in patients with chronic kidney disease (CKD).Methods:A prospective study was conducted to enroll 117 non-dialysis patients with CKD who volunteered for receiving ambulatory blood pressure monitoring test from December 2017 to December 2018 in the Department of Nephropathy of the First Medical Center of Chinese PLA General Hospital. According to the AASI tertiles, patients were divided into low AASI group (≤0.414, n=38), medium AASI group (0.414-0.517, n=40), and high AASI group (≥0.517, n=39). The differences of clinical baseline information among the three groups were compared. The follow-up time was until August 2020. Kaplan-Meier curve and Cox proportional hazard regression model were used to explore the effect of AASI on renal poor prognosis. Results:The median age of 117 patients was 61(49, 65) years old. There were 80 males (68.4%) and patients with hypertension accounted for 77.8%(91 cases). After a median follow-up of 27 months, 34 cases had composite endpoint events [renal replacement therapy (dialysis or kidney transplantation), 40% estimated glomerular filtration rate (eGFR) decline, and death], of which 10 patients were on dialysis, 19 patients had 40% eGFR decline, and 5 patients died. There were significant differences in age, hemoglobin, body mass index, eGFR, 24 h systolic blood pressure (SBP), daytime SBP, nighttime SBP, morning SBP, 24 h mean arterial pressure and 24 h pulse pressure among the three groups (all P<0.05). Kaplan-Meier survival analysis indicated that higher AASI was associated with lower cumulative survival rate in patients (Log-rank test χ2=13.111, P=0.001). Univariate Cox regression analysis showed that high AASI was an influencing factor for renal endpoint events ( P<0.05), and after adjusting for age, gender, mean arterial pressure, eGFR, 24 h urine protein, diabetes and body mass index, high AASI was an independent influencing factor for renal poor prognosis in classification and continuous variable analysis models ( HR=2.88, 95% CI 1.00-8.26, P=0.050; HR=1.50, 95% CI 1.02-2.21, P=0.039). Conclusion:High AASI is an independent influencing factor for renal poor prognosis in CKD patients.

6.
Chinese Journal of Neurology ; (12): 802-807, 2021.
Article in Chinese | WPRIM | ID: wpr-911793

ABSTRACT

Objective:To investigate the clinical features, imaging features and gene mutation of a paitent with alanyl-transfer ribonucleic acid synthetase 2 (AARS2) gene mutation- related leukodystrophy and further improve the understanding of this rare disease.Methods:Clinical data of a patient with leukodystrophy associated with AARS2 gene mutation diagnosed in October 2020 at Xiamen Hospital of Beijing University of Chinese Medicine and Huashan Hospital of Fudan University were collected.Results:The male patient, 25 years old, was admitted with the clinical manifestations, including chronic onset dyskinesia, ataxia, nystagmus and psoriasis. Head magnetic resonance imaging (MRI) showed bilateral white matter lesions and cerebellar atrophy. Spine MRI showed vertebral body incomplete fusion. Gene detection showed heterozygous compound AARS2 gene mutation [c.985C>T chr6:44275041(p.R329C) and c.452T>C chr6:44279256(p.M151T)].Conclusions:AARS2 gene mutation-related leukodystrophy is a rare mitochondrial disease in clinical practice. The patient presented with progressive motor deficits in the lower limbs, ataxia, relatively retained cognitive function. MRI revealed abnormal symmetry of corpus callosum and bilateral paraventricular white matter. Heterozygous compound AARS2 gene mutations [c.985C>T chr6:44275041 (p.R329C) and c.452T>C chr6:44279256 (p.M151T)] are one of the pathogenic factors leading to hereditary leukodystrophy.

7.
Article in Chinese | WPRIM | ID: wpr-908800

ABSTRACT

Objective:To investigate the risk factors of acute pancreatitis (AP) complicated with thrombotic diseases.Methods:Clinical data of 5 223 patients with AP admitted to the General Hospital of Ningxia Medical University from January 2015 to September 2020 were retrospectively analyzed. They were divided into thrombosis group and non-thrombosis group according to whether they were complicated with thrombotic diseases. The following data were recorded: gender, age, past history, time of onset, etiology, severity grade of AP, BISAP score, prothrombin time (PT), activated partial thromboplastin time (APTT), D-dimer(D-D), fibrinogen(FIB), white blood cell count(WBC), platelet count (PLT), lactate dehydrogenase (LDH), blood glucose level, with or without hypoalbuminemia, hypertriglyceridemia and hypercholesterolemia, date of diagnosis, location of thrombus, clinical manifestations and anticoagulant therapy. Univariate and Logistic multivariate regression analysis were used to analyze the risk factors of AP complicated with thrombotic diseases. The receiver operating characteristic (ROC) curve was drawn, the area under the curve (AUC) was calculated, and the efficacy of independent risk factors in predicting AP complicated with thrombotic diseases was evaluated.Results:46(0.88%) of 5 223 patients with AP were complicated with thrombosis, which occurred 8.50(2.00-15.00) days after the onset of AP; the age of onset was 66 (52-74) years; the patients with thrombotic diseases were mostly SAP patients (23/46, 50%); the most common type was deep venous thrombosis in lower extremity (19/46, 41.3%); 37 patients (80.4%) received regular anticoagulant treatment after finding thrombus, and no bleeding was found during hospitalization. Univariate analysis showed that the age of patients with thrombosis was higher than that of patients without thrombosis, APTT value was prolonged, D-D value was increased, WBC was decreased and SAP was more in AP severity, the number of patients with BISAP score ≥3 was increased significantly, and the differences were statistically significant ( P<0.05). Multivariate logistic regression analysis showed that AP severity ( OR=3.017, 95% CI 1.799-5.061, P<0.001) and age ( OR=1.029, 95% CI 1.000-1.059, P=0.049) were independent risk factors for AP patients complicated with thrombosis. The AUC of AP severity and age in predicting AP complicated with thrombotic diseases were 0.714 and 0.625, respectively. The sensitivity was 67.4% and 47.8%, and the specificity was 70.6% and 77.9%, respectively. Conclusions:The severity grade and age of AP were independent risk factors for AP complicated with thrombotic diseases. Early vigilance and clinical intervention should be given.

8.
Article in Chinese | WPRIM | ID: wpr-908513

ABSTRACT

Lateral lymph node metastasis (LLNM) is the main metastatic mode and the major cause of locoregional recurrence of mid-low rectal cancer. Single chemoradiotherapy cannot achieve good local control for LLNM, while the argument against performing lateral lymph node dissection (LLND) is the increased rate of urinary and sexual dysfunction after surgery. Ultra-high definition surgical field and delicate resolution by 4K laparoscopic surgical system will be helpful to achieve good tumor clearance and function preservation by identification and exposure of the important anatomic structures such as pelvic autonomic nerve and internal iliac vessels. Therefore, selective LLND can reduce local recurrence rates, particularly in the pelvic sidewall. LLND with autonomic nerve preservation by 4K laparoscopic system is expected to further decrease the risk of perioperative complications and urinary and sexual dysfunction in appropriate patients with neoadjuvant chemoradiotherapy.

9.
Article in Chinese | WPRIM | ID: wpr-908512

ABSTRACT

Lateral lymph node metastasis (LLNM) is one of the major causes for post-operative local recurrence of middle and low rectal cancer. At present, there are still controversies on the diagnosis and treatment of LLNM. The radiological assessment of LLNM generally relies on morphological criteria such as the size or shape of the node or the response to therapy, in which the diagnostic accuracy of MRI is superior to that of other imaging techniques. Neoadjuvant chemoradiotherapy could not achieve good local control for suspicious LLNM. Lateral lymph node dissection (LLND) can reduce tumor local recurrence significantly, but the clinical value of LLND in survival and quality of life of patients has been questioned. 4K laparoscope can decrease the incidence of perioperative complications and urinary and sexual dysfunction to a certain extent. Thus, selective LLND should be undertaken to patients with suspicious LLNM after neoadjuvant chemoradiotherapy, in order to reduce tumor local recurrence and improve the prognosis of patients. The authors elaborate on diagnosis and treatment including surgery or chemoradiotherapy of LLNM in 4K laparoscopic surgery for middle and low rectal cancer combined with their own experiences.

10.
Article in Chinese | WPRIM | ID: wpr-907987

ABSTRACT

Disseminated intravascular coagulation (DIC) is a common and critical complication in children with acute leukemia.Acute promyelocytic leukemia (APL) is the most-common subtype of acute leukemia complica-ted with DIC.Although all-trans retinoic acid plus chemotherapy has significantly improved the overall survival of children with APL, the incidence of DIC-induced early mortality has not been improved.This review summarizes the advances on the pathogenesis and treatment of DIC in children with acute leukemia, aiming to provide evidences for clinical management.

11.
Article in Chinese | WPRIM | ID: wpr-905064

ABSTRACT

Objective:To treat mice with Alzheimer's disease (AD) with β-catenin RNA interference (RNAi) Huangjingwan (HW), so as to explore the neuroprotective signal mechanism of its prevention and treatment of AD. Method:A total of 81 male Kunming mice were randomly divided into normal control group, sham model control group, AD model group, Donepezil group, HW+scrambled group, HW+RNAi group, HW group, with 8 mice in each of donepezil group and HW group, and 13 mice in each of other groups. The AD models were established through injection with D-galactose and scopolamine in the last 5 groups for 5 consecutive weeks. On the 1st day of the 4th week after modeling, 0.75 μL PEI-LMW/β-catenin siRNAs nano-complex was injected into the right lateral ventricle of each mouse in for one time to treat with β-catenin RNAi in mice brains of the HW+RNAi group. The 0.75 μL complex was injected into the right lateral ventricle of each mouse for one time as for β-catenin interference control of the HW+scrambled group. The 0.75 μL normal saline was injected into the right lateral ventricle of each mouse in one time of the sham control group. Two weeks after intracerebroventricular injection, β-catenin RNAi was confirmed to be successful, and Donepezil (6.5×10-4 g·kg-1) was intragastrically administered to each mouse of donepezil group. HW (2.5 g·kg-1) was intragastrically administered to each mouse of HW group, HW+RNAi group and HW+scrambled group. Normal saline (0.5 mL·d-1) was intragastrically administered to each mouse of the sham control group. All gastric perfusion lasted for 4 weeks. At the end of gavage, the difference in learning and memory ability of mice was evaluated by platform jumping test. Nissl staining was used to count the number of neurons in s1Tr area of cerebral cortex and CA1 and CA3 areas of hippocampus of each mouse in each group. The mRNA expressions of Wnt1, DVL2, GSK-3β, β-catenin and CyclinD1 in mice brain of each group were detected by real-time fluorescence quantitative polymerase chain reaction (Real-time PCR). Western blot was used to detect the expressions of Wnt1, DVL2, GSK-3β, β-catenin and CyclinD1 in mice brain of each group. Result:The expression of β-catenin could be significantly inhibited through the injection with PEI-LMW/β-catenin siRNAs nano-complex into the lateral ventricle of AD mice, and nearly no β-catenin expression could be detected, which successfully achieved gene silencing. Compared with the normal control group, mice in AD model group showed that the learning and memory performance decreased significantly, the number of jumping errors increased (P<0.01), the number of neurons in S1Tr area of cerebral cortex and CA1, CA3 areas of hippocampus decreased significantly (P<0.01), the mRNA and protein expressions of Wnt1, DVL2, β-catenin, CyclinD1 in brain decreased significantly (P<0.01), while the mRNA and protein expressions of GSK-3β increased significantly (P<0.01). Compared with the AD model group, mice in HW group showed that the learning and memory performance increased significantly, the number of jumping errors decreased, the number of neurons in S1Tr area of cerebral cortex and CA1, CA3 areas of hippocampus increased significantly, the mRNA and protein expressions of Wnt1, DVL2, β-catenin, CyclinD1 in brain increased significantly, while the mRNA and protein expression of GSK-3β decreased significantly (P<0.01). Compared with the HW group, mice in HW+RNAi group showed that the learning and memory performance decreased significantly, the number of jumping errors increased significantly (P<0.01), the number of neurons in S1Tr area of cerebral cortex and CA1, CA3 areas of hippocampus decreased significantly (P<0.01), there was no significant change in mRNA and protein expressions of Wnt1, DVL2, GSK-3β in the brain, and the mRNA and protein expressions of β-catenin, CyclinD1 decreased significantly (P<0.01). Conclusion:HW can treat and prevent AD by activating Wnt/β-catenin signal pathway.

12.
Article in Chinese | WPRIM | ID: wpr-905063

ABSTRACT

Alzheimer's disease (AD) is a neurodegenerative disease that leads to progressive memory and cognitive impairment and behavioral disorders, which has seriously threatened the health of the majority of middle-aged and elderly people. Traditional Chinese medicine (TCM) believes that the basic pathogenesis of AD is deficiency of kidney-essence, blood stasis and meridian stagnation. In recent years, many studies have shown that TCM has obvious value and advantages in the prevention and treatment of AD by multi-target mechanism. Therefore, it is of great significance to screen out effective anti-AD drugs from TCM compound prescriptions. Huangjingwan, also known as Jiuzhuan Huangjingwan, has the effects in tonifying kidney-essence, activating blood and removing stasis, with a potential effect in preventing AD. In this article, the feasibility of Huangjingwan in the prevention and treatment of AD was analyzed and discussed from the perspective of TCM theory, the study results of Huangjingwan in the prevention and treatment of AD were summarized, and the mechanism of its action was analyzed from the perspective of pharmacological mechanism. Based on TCM theory, Huangjingwan has the effect of anti-AD. According to relevant findings, Huangjingwan has many targets, such as anti-oxidation, anti-inflammatory, decrease of the level of oxidative stress in brain, activation of Wnt/β-catenin signal transduction in brain, regulation of glycogen synthase kinase-3β (GSK-3β), protein phosphatase 2A (PP2A) activity balance, reduction of amyloid β (Aβ) content and tau protein hyperphosphorylation in brain, so as to exert effects in improving neurological symptoms and increasing learning and memory ability, with an anti-AD neuroprotective function. This will provide new ideas for in-depth studies and clinical applications of Huangjingwan against AD.

13.
Article in Chinese | WPRIM | ID: wpr-879543

ABSTRACT

OBJECTIVE@#To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.@*METHODS@#Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene.@*RESULTS@#The patient presented with poor weight gain, poor feeding, lethargy, and a "sweaty feet" odor 10 days after birth. Biochemical test suggested hyperammonemia. Blood spot amino acid profiles displayed a dramatic increase in isovalerylcarnitine (C5: 3. 044, reference range 0.04 - 0.4 μmol/L). Organic acid analysis of her urine sample revealed a high level of isovaleric glycine (669. 53, reference range 0 - 0.5). The child was ultimately diagnosed with isovaleric acidemia, and was found to harbor a paternally derived heterozygous variant c.149G>A (p.R50H) and a maternally derived heterozygous variant c.1123G>A (p.G375S) of the IVD gene. Her elder brother was a heterozygous carrier of c.1123G>A (p.G375S) variant. The c.149G>A (p.R50H) was a known pathogenic variant, while the c.1123G>A (p.G375S) variant was previously unreported.@*CONCLUSION@#The pathogenesis of the patient was delineated from the perspective of genetics, which has provided a basis for clinical diagnosis, treatment as well as genetic counseling.


Subject(s)
Amino Acid Metabolism, Inborn Errors/genetics , Child , Female , Heterozygote , Humans , Isovaleryl-CoA Dehydrogenase/genetics , Male , Mutation
14.
Article in Chinese | WPRIM | ID: wpr-886832

ABSTRACT

Objective To analyze the epidemiological characteristics of viral hepatitis in Minhang District, Shanghai from 2010 to 2020, to predict the number of cases in 2021, and to provide a scientific basis for the prevention and control of viral hepatitis. Methods A descriptive epidemiological method was used to analyze the epidemic data of viral hepatitis in Minhang District of Shanghai from 2010 to 2020. The Holt-Winters additive model was used to predict the incidence of viral hepatitis in the future. Results A total of 10 769 cases of viral hepatitis were reported in Minhang District, Shanghai from 2010 to 2020, with an average annual incidence rate of 38.81/100 000. The reported cases were mainly concentrated in the central urban areas with dense population and large flow of people. The reported population was mainly concentrated in the 20-60 years old (78.2%). The ratio of male to female was 1.92:1. Retirees accounted for the largest proportion of all types of hepatitis. The Holt-Winters additive model predicted 958 cases in 2021. Conclusion The overall prevention and control of viral hepatitis in Minhang District have achieved great success, but still face challenges. It is necessary to further strengthen the publicity and intervention to the floating population, especially the young, middle-aged and retired people, and to strengthen the surveillance to reduce the infection rate.

15.
Article in Chinese | WPRIM | ID: wpr-885582

ABSTRACT

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

16.
Article in Chinese | WPRIM | ID: wpr-885574

ABSTRACT

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

17.
Article in Chinese | WPRIM | ID: wpr-883636

ABSTRACT

We integrate the precision medicine into the training process of breast surgery postgraduates. Besides the traditional training, we emphasize the idea of precision medicine and provide precision medicine lessons. We also carry out multidisciplinary precision-medicine teaching ward-rounds, and take use of AI system to assist clinical decision making, so as to stimulate the subjective initiative of the postgraduates, and strengthen the training of clinical practical capabilities. Our experience has showed that applying the precision medicine mode to the training of breast surgery postgraduates is more conducive to strengthening their clinical capabilities and overall quality.

18.
Article in Chinese | WPRIM | ID: wpr-883598

ABSTRACT

In order to prevent the teaching reform of organ system curriculum from fall of teaching quality, the teaching effect of organ system curriculum and subject curriculum system in teaching the basic knowledge of pathophysiology was compared. In organ system curriculum teaching, there was no difference between the grades of students in Batch 2011 and Batch 2012 who conformed to the teaching principle of "gradual improvement" and those of the students taught with subject curriculum system. On the contrary, the students of Batch 2013 and Batch 2014 with insufficient curriculum content integration had a decreasing trend or a significant reduction in the teaching effect of organ system curriculum compared with that of subject curriculum system. After the supplementary for curriculum knowledge was made, the teaching effect of the organ system was significantly improved, which was better than that of the subject curriculum system. In conclusion, we have summarized and reflected on the effectiveness of the teaching reform of organ system curriculum, once again proved that basic medical teaching must also follow the inherent law of medical education, which is the teaching principle of "gradual improvement."

19.
Article in English | WPRIM | ID: wpr-899294

ABSTRACT

The present study aimed to evaluate the effects of virtual reality (VR) simulations combined with bedside assignments on nurses’ self-efficacy in providing pre-treatment educational services. Between March 2019 and November 2020, we conducted a study of VR educational materials that were developed to cover information about the treatment of oral cancers. The effects of the VR simulation, the thinking-path tracking map method, and bedside assignments on the nurses’ treatment decision-related knowledge were evaluated in a ward for oral cancer patients at Taipei Veterans General Hospital, Taipei, Taiwan. The blended training model significantly increased nurses’ familiarity (P<0.01) and confidence (P<0.03) regarding their knowledge of treatments and treatment decision-related knowledge. This model also significantly increased their confidence in their skills in bedside pre-treatment education for admitted oral cancer patients (P<0.002). Oral cancer-specific VR materials enhanced the effectiveness of skills training among nurses in the oral cancer ward.

20.
Journal of Breast Cancer ; : 315-329, 2021.
Article in English | WPRIM | ID: wpr-899010

ABSTRACT

Purpose@#Triple-negative breast cancer (TNBC) is the most lethal subtype of breast cancer owing to high heterogeneity, aggressive nature, and lack of treatment options, which has a substantial deleterious effect on patients' lives. HOXD antisense growth-associated long noncoding RNA (lncRNA) (HAGLR) plays tumor-promoting roles in many cancers. In this study, we aimed to explore the role of HAGLR in TNBC. @*Methods@#Quantitative real-time polymerase chain reaction assays were used to examine the expression of RNAs. Functional experiments were conducted to test the biological behavior of TNBC cells. Moreover, MS2-RNA immunoprecipitation, luciferase reporter, and RNA pulldown assays were conducted to verify the binding relationship between HAGLR, microRNA-143-5p (miR-143-5p), and serine- and arginine-rich splicing factor 1 (SRSF1). @*Results@#HAGLR was found to be highly expressed in TNBC tissues and cells, and inhibiting HAGLR suppressed cell proliferation, migration, and invasion and promoted cell apoptosis in TNBC. Meanwhile, miR-93-5p was shown to bind to HAGLR and SRSF1. In addition, SRSF1 plays an oncogenic role in TNBC. Importantly, HAGLR could activate the Wnt signaling pathway by sponging miR-93-5p to upregulate SRSF1; thus, accelerating TNBC progression. @*Conclusion@#HAGLR could promote the progression of TNBC through the miR-93-5p/SRSF1 axis to activate the Wnt signaling pathway.

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