ObjectiveTo observe the mutation and expression of Nkx2.5 in congenital heart disease patients with diminutive pulmonary blood. We preliminarily explored the association between Nkx2.5 gene and pathogenesis of congenital heart disease patients with diminutive pulmonary blood.
MethodsFifty six patients of congenital heart disease with diminutive pulmonary blood in the first affiliated hospital of Bengbu medical college and Anhui province children, s hospital between May 2012 and May 2014 were as an experimental group. Sixty three patients of ventricular septal defect were as a control group. In the trial group, there were 30 males and 26 females averagely aged 5.82± 4.23 years ranking from 6 months to 14 years. In the control group, there were 36 males and 27 females averagely aged 6.93± 4.56 years ranking from 6 months to 14 years. Before operation, peripheral venous blood of all the patients were collected. We used polymerase chain reaction combined with DNA sequencing technology to detect Nkx2.5 gene exon sequence and to analyze the association between Nkx2.5 gene mutation and congenital heart disease with diminutive pulmonary blood. And we got some hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5× 0.5× 0.5 cubic centimeter. And we extracted myocardial tissue RNA. The expression changes of Nkx2.5 gene mRNA were detected by real-time fluorescence quantitative polymerase chain reaction technique.
ResultsThere was no mutations tested out in the peripheral venous blood in both two groups. The expression of mRNA in Nkx2.5 gene of the trial group was lower than that in the control group with a statistical difference.
ConclusionNkx2.5 gene mutation may be associated with multiple factors. The occurrence of congenital heart disease with diminutive pulmonary blood may be related with a decline of Nkx2.5 gene expression in the myocardial tissue.
ObjectiveTo provide the possibility to explain the relationship between genotype and phenotype, and to provide reference for the clinical treatment of Sleep-related hypermotor epilepsy (SHE). MethodsWe retrospectively analyzed the case data of the child (patient 1) diagnosed with SHE in the outpatient department of the Second Affiliated Hospital of Wenzhou Medical University in December 2017, and inquired about his family history and growth and development history. We learned that the father (patient 2) of the child had a history of epilepsy, and we also collected his medical history and growth and development history of patient 2. We carried out the basic physical examination for the two patients, and basic blood routine and blood biochemical indicators have also been done. In addition, electroencephalogram, Wechsler intelligence assessment and cranial magnetic resonance imaging were performed. After the diagnosis of patients 1 and 2, we treated them with antiepileptic drugs and make them long-term follow-up. What’more, we collected the peripheral blood of patient 1 and his father and mother, sequenced the gene, established phylogenetic tree for the mutation gene, and compared the homologous protein sequence to judge the conservation of the mutation. Moreover, in silico analysis was used to analyze the pathogenicity of the mutant gene. ResultsWe find a family with epilepsy, of whom patient 1 and his father are with epilepsy. Their clinical manifestations are atypical, and their seizures are all in sleep. After a long-term follow-up of two patients' drug treatments, it is found that patient 1 and patient 2 respond well to the drugs. Gene test shows that the mutations of DEPDC5 (c.484-1del c.484_485del) and KCNQ2 (c.1164A> T) are at the same site in both patient 1 and patient 2, and the mutation sites are first reported. What’more, the homologous protein alignment shows that the amino acids corresponding to the two mutant genes are highly conserved. ConclusionThis study mainly reports a family with sleep-related hypermotor epilepsy. Patients 1 and patient 2 have novel mutations of DEPDC5 and KCNQ2 genes. In the long-term follow-up of this study, it is found that the patients are effective the antiepileptic drugs.
Medical studies have found that tumor mutation burden (TMB) is positively correlated with the efficacy of immunotherapy for non-small cell lung cancer (NSCLC), and TMB value can be used to predict the efficacy of targeted therapy and chemotherapy. However, the calculation of TMB value mainly depends on the whole exon sequencing (WES) technology, which usually costs too much time and expenses. To deal with above problem, this paper studies the correlation between TMB and slice images by taking advantage of digital pathological slices commonly used in clinic and then predicts the patient TMB level accordingly. This paper proposes a deep learning model (RCA-MSAG) based on residual coordinate attention (RCA) structure and combined with multi-scale attention guidance (MSAG) module. The model takes ResNet-50 as the basic model and integrates coordinate attention (CA) into bottleneck module to capture the direction-aware and position-sensitive information, which makes the model able to locate and identify the interesting positions more accurately. And then, MSAG module is embedded into the network, which makes the model able to extract the deep features of lung cancer pathological sections and the interactive information between channels. The cancer genome map (TCGA) open dataset is adopted in the experiment, which consists of 200 pathological sections of lung adenocarcinoma, including 80 data samples with high TMB value, 77 data samples with medium TMB value and 43 data samples with low TMB value. Experimental results demonstrate that the accuracy, precision, recall and F1 score of the proposed model are 96.2%, 96.4%, 96.2% and 96.3%, respectively, which are superior to the existing mainstream deep learning models. The model proposed in this paper can promote clinical auxiliary diagnosis and has certain theoretical guiding significance for TMB prediction.
The electroencephalogram (EEG) has proved to be a valuable tool in the study of comprehensive conditions whose effects are manifest in the electrical brain activity, and epilepsy is one of such conditions. In the study, multi-scale permutation entropy (MPE) was proposed to describe dynamical characteristics of EEG recordings from epilepsy and healthy subjects, then all the characteristic parameters were forwarded into a support vector machine (SVM) for classification. The classification accuracies of the MPE with SVM were evaluated by a series of experiments. It is indicated that the dynamical characteristics of EEG data with MPE could identify the differences among healthy, inter-ictal and ictal states, and there was a reduction of MPE of EEG from the healthy and inter-ictal state to the ictal state. Experimental results demonstrated that average classification accuracy was 100% by using the MPE as a feature to characterize the healthy and seizure, while 99.58% accuracy was obtained to distinguish the seizure-free and seizure EEG. In addition, the single-scale permutation entropy (PE) at scales 1-5 was put into the SVM for classification at the same time for comparative analysis. The simulation results demonstrated that the proposed method could be a very powerful algorithm for seizure prediction and could have much better performance than the methods based on single scale PE.
The loss of heterozygosity and mutation for nm23-H1 gene in colorectal carcinomas were studied by Southern blot and RT-PCR-SSCP/silver staining sequencing. The rate of loss of heterozygosity for nm23-H1 was 29.63%. The cases of Duke’s stage D and distant metastatsis had higher frequency of the loss of heterozygosity. No mutation for nm23-H1 was found in colorectal carcinomas. These reaults indicate that the loss of heterozygosity for nm23-H1 may play a significant role in the malignant progression and distant metastasis in colorectal carcinomas.
ObjectiveBased on the method of bibliometrics, to visually analyze the current research status of DNA polymerase epsilon catalytic/DNA polymerase delta catalytic subunit (POLE/POLD1) mutations in colorectal cancer, and further to explore its current hot spots and to look forward to future development trends.MethodsUsed the Web of Science database as the data source to retrieve the published related literatures in the 30 years from the establishment of the database to September 2020, and used VOSviewer 1.6.11 and CiteSpace 5.7 software to analyze the the distribution of research countries/institutions, authors and keywords in the included published literatures. And to perform cluster analysis, time evolution analysis and Burst analysis on keywords, draw corresponding visual maps and analyzed them.ResultsA total of 299 published articles were included. Bibliometric analysis showed that the application of POLE/POLD1 mutations in colorectal cancer had developed steadily in recent years. After 2012, the number of published studies had increased significantly; the journals with the most articles were Familial Cancer and Proceedings of the National Academy of Sciences of the United States of America. The author with the highest number of articles was Tomlinson I. The analysis of countries and regions showed that the United States was the main country for research in this field and had contributed the most to the amount of publications. After analyzed the academic institutions/universities where the researchers were located, it could be seen that the University of Oxford was the research university/institution with the most publications. Keyword cluster analysis and time evolution analysis showed that the research hotspots in this field focus on the impact of this gene mutation on immunotherapy. Burst analysis showed that the current published research in this field started two years after publication and continues to be highly cited.ConclusionsPOLE/POLD1 mutation has undoubtedly become a hot area of current research in colorectal cancer research. Among them, tumor immunotherapy is the focus of research in this field.
Purpose
To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknow reason (ONUR) and to assess the pathogenic and differential diagnostic values of screening for mt-DNA mutations in ONUR.
Method
Thirty patients with ONUR were screened for mt-DNA mutations by using SSCP,mutation-specific primer PCR and sequencing.
Results
mt-DNA mutations were found in 12 out of the thirty patients.All of the mutations were at 11778 position,but no one at 3460 and 15257.
Conclusions
Quite a number of patients (12/30,40%) with ONUR were caused actually by mt-DNA mutation．Screening for mt-DNA mutation in these patients has a pathogenic and differential diagnostic significance.
(Chin J Ocul Fundus Dis,2000,16:78-79)
ObjectiveTo investigate the predicting effect of PIK3CA mutations for the efficacy and prognosis of hepatocellular carcinoma (HCC) patients received surgical resection.
MethodsPCR and DNA sequencing were used to detect the PIK3CA mutation status of 79 HCC tissues, its impact on the short and long term effects of the patients were analyzed.
ResultsIn this group of patients, mutation rate of PIK3CA gene exon 9 was 39.24% (31/79), PIK3CA mutation rate correlated with lymph node status and tumor differentiation (P < 0.05). The therapeutic effect of patients with PIK3CA mutation was significantly poor than that of the non-mutated group (P < 0.05). The three-year cumulative survival of patients with PIK3CA mutation (33.33%) was significantly lower than non-mutated group's (60.00%) by Kaplan-Meier (P < 0.05).
ConclusionPIK3CA gene mutation in exon 9 could impact the efficiency of surgical resection in patients with HCC and could predict a poor survival prognosis.
ObjectiveTo study the expressions of BRAF gene in papillary thyroid microcarcinoma (PTMC) and papillary thyroid carcinoma (PTC) >1 cm in diameter, and the invasiveness of PTMC and PTC.
MethodsThe data of 275 patients with PTC received surgical treatment and with BRAF gene mutation results in West China Hospital of Sichuan University from 2011 September to 2013 September were retrospectively analyzed. According to the size of tumors, the patients were divided into three groups, was the diameter <1 cm group, 1 cm< diameter≤2 cm group, and diameter >2 cm group,respectively. The ratio of BRAF gene mutation, and the degree of risk of extrathyroidal invasion and lymph node metastasis were compared.
ResultsUnivariate analysis showed that tumor size was not related with the age, gender, and BRAF gene mutation rate (P>0.05), while the tumor size was related with the extrathyroidal invasion and lymph node metastasis (P<0.05), and the ratio of BRAF gene mutation was related with the extrathyroidal invasion and lymph node metastasis (P<0.05). Multivariate analysis showed that tumor size was associated with extrathyroidal extension (P=0.009) and lymph node metastasis (P=0.000).
ConclusionsBRAF gene mutation can increase the extrathyroidal invasion and lymph node metastasis risk of PTC, and it is no significantly correlated with tumor size of PTC. The invasiveness of PTC increases with the increased of tumor size, but the PTMC of BRAF gene mutation positive is still require positive treatment.
ObjectiveTo investigate research advance on the value of B-type RAF kinase (BRAF) gene mutation assisted diagnosis of papillary thyroid cancer (PTC) in thyroid nodule.MethodThe recent literatures on the BRAF gene mutation and its combination with fine needle aspiration cytology (FNAC) in the diagnosis of benign and malignant thyroid nodules and PTC were collected and reviewed.ResultsThe BRAFV600E gene mutation was the most common type of gene mutation in the genetic molecule of PTC. The combination of the FNAC and BRAF gene mutation detection could improve the diagnostic value of the benign and malignant thyroid nodules, especially the diagnostic accuracy of PTC. However, the negative detection of BRAF gene mutation did not rule out the possibility of PTC. It still remained controversial that the detection of BRAF gene mutation could differentiate between the benign and malignant thyroid nodules.ConclusionsBRAF gene mutation detection has different diagnostic values in different types of thyroid nodules. It has considerable diagnostic value in thyroid nodules with high BRAF mutation incidence (suspicious for malignancy, undetermined significance or follicular lesion of undetermined significance nodules) while presents false negative result in thyroid nodule with very low mutation incidence category to a large extent. BRAF gene detection might become a specific diagnostic molecular marker to promote diagnosis accuracy of PTC.
