Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 36
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Zhonghua Zhong Liu Za Zhi ; 44(3): 219-227, 2022 Mar 23.
Artigo em Zh | MEDLINE | ID: mdl-35316871

RESUMO

Non-small cell lung cancer (NSCLC) is one of the most severe malignant tumors worldwide. Lobectomy and systematic nodal dissection remain the standard treatment for stageⅠNSCLC. Stereotactic body radiotherapy (SBRT) has become the standard treatment for medically inoperable patients. Though the prognosis of stage Ⅰ NSCLC patients is generally good, there are still about 20% of patients with local recurrence and distant metastasis. There is significant heterogeneity in the prognosis and failure phenotype of patients, which cannot be precisely distinguished by the pathological TNM classification system. Identification of the risk factors for the prognosis of patients with stage Ⅰ NSCLC is a key step to realize the treatment from experience to precision. Screening the high-risk patients will facilitate to individually develop the adjuvant therapy strategy after surgery or SBRT and improve the overall curative effect. There are many factors that are significantly related to the prognosis of stage Ⅰ NSCLC including individual factors such as gender, age, and systemic inflammatory biomarkers; treatment-related factors such as the extent of surgical resection of the primary tumor and lymph nodes, the choice of different radiation rays, and different dose fractionation; and tumor-related factors such as imaging information, pathology information; and molecular biology information. This review will analyze the treatment failure phenotype and prognostic factors of stageⅠ NSCLC in various perspectives such as individual-, tumor- and treatment-related factors.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células não Pequenas/patologia , Carcinoma Pulmonar de Células não Pequenas/radioterapia , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Humanos , Neoplasias Pulmonares/patologia , Fenótipo , Prognóstico , Falha de Tratamento
2.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(1): 134-139, 2022 Feb 18.
Artigo em Zh | MEDLINE | ID: mdl-35165480

RESUMO

OBJECTIVE: To establish a deep learning algorithm that can accurately determine three-dimensional facial anatomical landmarks, multi-view stacked hourglass convolutional neural networks (MSH-CNN) and to construct three-dimensional facial midsagittal plane automatically based on MSH-CNN and weighted Procrustes analysis algorithm. METHODS: One hundred subjects with no obvious facial deformity were collected in our oral clinic. Three-dimensional facial data were scanned by three-dimensional facial scanner. Experts annotated twenty-one facial landmarks and midsagittal plane of each data. Eighty three-dimensional facial data were used as training set, to train the MSH-CNN in this study. The overview of MSH-CNN network architecture contained multi-view rendering and training the MSH-CNN network. The three-dimensional facial data were rendered from ninety-six views that were fed to MSH-CNN and the output was one heatmap per landmark. The result of the twenty-one landmarks was accurately placed on the three-dimensional facial data after a three-dimensional view ray voting process. The remaining twenty three-dimensional facial data were used as test set. The trained MSH-CNN automatically determined twenty-one three-dimensional facial anatomical landmarks of each case of data, and calculated the distance between each MSH-CNN landmark and the expert landmark, which was defined as position error. The midsagittal plane of the twenty subjects' could be automatically constructed, using the MSH-CNN and Procrustes analysis algorithm. To evaluate the effect of midsagittal plane by automatic method, the angle between the midsagittal plane constructed by the automatic method and the expert annotated plane was calculated, which was defined as angle error. RESULTS: For twenty subjects with no obvious facial deformity, the average angle error of the midsagittal plane constructed by MSH-CNN and weighted Procrustes analysis algorithm was 0.73°±0.50°, in which the average position error of the twenty-one facial landmarks automatically determined by MSH-CNN was (1.13±0.24) mm, the maximum position error of the orbital area was (1.31±0.54) mm, and the minimum position error of the nasal area was (0.79±0.36) mm. CONCLUSION: This research combines deep learning algorithms and Procrustes analysis algorithms to realize the fully automated construction of the three-dimensional midsagittal plane, which initially achieves the construction effect of clinical experts. The obtained results constituted the basis for the independent intellectual property software development.


Assuntos
Aprendizado Profundo , Algoritmos , Face , Humanos , Redes Neurais de Computação , Software
3.
Public Health ; 194: 89-95, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33866150

RESUMO

OBJECTIVE: Given that the presence of insurance may affect the risk of suicide mortality in cancer patients, we aimed to examine the association in a population-based study using the Surveillance, Epidemiologic, and End Results (SEER) database. STUDY DESIGN: A retrospective analysis of data from the SEER database. METHODS: We conducted a retrospective study using the SEER database. Hazard ratios (HRs), adjusted HRs (aHRs), and 95% confidence intervals (95% CIs) of suicide death were calculated using Cox proportional hazard models to evaluate the risk of suicide mortality among the cohorts. RESULTS: Multivariable analysis revealed that cancer patients without insurance had an increased risk of suicide death compared with patients with private insurance (aHR, 1.37; 95% CI, 1.01-1.72), whereas no significant result was observed in patients with any Medicaid (aHR, 1.10; 95% CI, 0.93-1.30; P = 0.27). In addition, the stratified analysis indicated that the risk of suicide death in patients in the uninsured and Medicaid groups presented with localized stage of disease (aHR, 1.32; 95% CI, 1.02, 1.69), White (aHR, 1.34; 95% CI, 1.05, 1.71), and American Indian/Alaska Native and Asian/Pacific Islander (aHR, 1.89; 95% CI, 1.08, 3.30) were greater than insured patients. CONCLUSION: Overall, our results indicated that insurance status was a statistically significant predictor of suicide death in patients with cancer. Healthcare providers should identify those patients at high risk of suicide and provide appropriate mental health and psychosocial oncology services in time.


Assuntos
Cobertura do Seguro/estatística & dados numéricos , Seguro Saúde/estatística & dados numéricos , Neoplasias/terapia , Suicídio Consumado/estatística & dados numéricos , Adolescente , Adulto , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Programa de SEER , Estados Unidos/epidemiologia , Adulto Jovem
4.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(1): 220-226, 2020 Dec 18.
Artigo em Zh | MEDLINE | ID: mdl-33550361

RESUMO

OBJECTIVE: To establish a novel method based on three-dimensional (3D) shape analysis and weighted Procrustes analysis (WPA) algorithm to construct a 3D facial symmetry reference plane (SRP), automatically assigning weight to facial anatomical landmarks. The WPA algorithm suitability for commonly observed clinical cases of mandibular deviation were analysed and evaluated. METHODS: Thirty patients with mandibular deviation were recruited for this study. The 3D facial SRPs were extracted independently based on original-mirror alignment method. Thirty-two anatomical landmarks were selected from the overall region by three times to obtain the mean coordinate. The SRP of experimental groups 1 and 2 were using the standard Procrustes analysis (PA) algorithm and WPA algorithm, respectively. A reference plane defined by experts based on regional iterative closest point (ICP) algorithm, served as the ground truth. Three experts manually selecting facial regions with good symmetry for original model, and common region was included in the study. The angle error values between the SRP of WPA algorithm in the experimental group 1 and the truth plane were evaluated in this study, and the SRP of PA algorithm of experimental group 2 was calculated in the same way. Statistics and measurement analysis were used to comprehensively evaluate the clinical suitability of the WPA algorithm to calculate the SRP. A paired t-test analysis (two-tailed) was conducted to compare the angles. RESULTS: The average angle error between the SRP of WPA algorithm and the ground truth was 1.53°±0.84°, which was smaller than that between the SRP of PA and the ground truth (2.06°±0.86°). There were significant differences in the angle errors among the groups (P < 0.05). For the patients with severe mandibular deviation that the distance between pogonion and facial midline greater than 12 mm, the average angle error of the WPA algorithm was 0.86° smaller than that of the PA algorithm. CONCLUSION: The WPA algorithm, based on weighted shape analysis, can provide a more adaptable SRP than the standard PA algorithm when applied to mandibular deviation patients and preliminarily simulate the diagnosis strategies of clinical experts.


Assuntos
Assimetria Facial , Imageamento Tridimensional , Algoritmos , Cefalometria , Face , Humanos
5.
Dis Esophagus ; 32(12)2019 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-30855089

RESUMO

This study compares the outcomes of different postoperative radiation fields for locoregionally advanced thoracic esophageal squamous cell carcinoma (ESCC) patients. This is a multi-institution randomized phase II trial and noninferior study. Patients with ESCC who had undergone esophagectomy (stage T3-4N0-3M0) were enrolled and randomized into the large-field irradiation arm (LFI; tumor bed and elective lymph node region) and small-field irradiation arm (SFI; tumor bed only). The primary endpoint was whether the disease-free survival (DFS) of SFI was not inferior to LFI. The secondary endpoint was to evaluate the rationality of the radiation target volume by analyzing failure patterns. One hundred twenty-one patients (64 patients for LFI and 57 patients for SFI, respectively) were eligible in this mid-time analysis. The 1- and 3-year DFS was 79.9%, 46.2% for LFI and 67.6%, 44.3% for SFI, respectively (P = 0.414). The locoregional recurrence-free survival (LRFS) of LFI was significantly better than that of SFI (P = 0.003). However, there were no significant differences in the distant metastasis-free survival and overall survival between the two arms (P = 0.332, P = 0.405, respectively). The failure patterns of the two arms were significantly different (P = 0.002). For pT3-4N0-3M0 ESCC patients, postoperative radiotherapy with SFI showed a similar survival outcome to LFI. However, the LRFS of patients with SFI was worse than that of patients with LFI.


Assuntos
Neoplasias Esofágicas/mortalidade , Carcinoma de Células Escamosas do Esôfago/mortalidade , Excisão de Linfonodo/mortalidade , Recidiva Local de Neoplasia/mortalidade , Neoplasias Torácicas/mortalidade , Adulto , Idoso , Intervalo Livre de Doença , Neoplasias Esofágicas/terapia , Carcinoma de Células Escamosas do Esôfago/terapia , Esofagectomia , Feminino , Humanos , Linfonodos/cirurgia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/terapia , Período Pós-Operatório , Radioterapia Adjuvante/mortalidade , Neoplasias Torácicas/terapia , Resultado do Tratamento
6.
Fa Yi Xue Za Zhi ; 35(4): 459-466, 2019 Aug.
Artigo em Inglês, Zh | MEDLINE | ID: mdl-31532158

RESUMO

ABSTRACT: Human corpses can be found in a variety of aquatic environments. The decomposition of corpses in aquatic environments is different from those on land. A large number of factors influence the decomposition process in water, therefore postmortem submersion interval (PMSI) is difficult to estimate. To date, while studies on aquatic corpses are obviously fewer than those on terrestrial corpses, there are many problems in practical work. This review summarizes the stages and influencing factors of aquatic corpse decomposition, and introduces the relevant research progress of PMSI estimation based on decomposition stages, postmortem phenomena, aquatic insects, biofilm, and physical and chemical methods, in order to provide reference for aquatic decomposition researches and practices.


Assuntos
Autopsia , Cadáver , Insetos , Mudanças Depois da Morte , Água , Animais , Biofilmes , Humanos
7.
Fa Yi Xue Za Zhi ; 35(5): 596-601, 2019 Oct.
Artigo em Inglês, Zh | MEDLINE | ID: mdl-31833296

RESUMO

ABSTRACT: In forensic pathology, the estimation of postmortem interval (PMI) has always been a difficult issue, and there is still lack of effective methods to estimate PMI of corpses in water. Microbial biofilm refers to the microbial population attached to non-biological or biological surfaces by microorganisms during microbial growth, that has a three-dimensional structure, surrounded by extracellular polymers and matrix networks created by itself. A series of community succession phenomena of microorganisms occur during the occurrence and development of microbial population. The microbial community and its succession process of this kind of biofilm attached to the surface of a corpse in water may become a new basis for estimation of the PMI of corpses in water. This review elucidates on the concept, classification, research methods, and influencing factors of biofilm and analyzes its application prospects in PMI estimation of corpses in water, which would provide new ideas for the researches in this field.


Assuntos
Autopsia , Biofilmes , Afogamento , Patologia Legal/métodos , Mudanças Depois da Morte , Cadáver , Humanos , Água
8.
Zhonghua Zhong Liu Za Zhi ; 40(12): 881-884, 2018 Dec 23.
Artigo em Zh | MEDLINE | ID: mdl-30605975

RESUMO

Artificial intelligence is a man-made device that simulates intellectual work such as human thinking and judgment. There are many successful applications of artificial intelligence in the fields of medicine, healthcare, agriculture, education, finance, service, news and machinery. Intelligent computer hospital management systems, intelligent medical diagnostic expert systems and intelligent surgical robots have revolutionized the medical field. Therefore, the attentions which are paid to artificial intelligence in cancer diagnosis and cancer treatment are on the rise. Some breakthroughs have also been made in the application of imaging diagnosis, pathological diagnosis, oncology surgery, oncology radiotherapy, drug development and cancer screening. Artificial intelligence is gradually changing the traditional medical model, which is a future direction and trend of human medical development. Here, we delineate the concept and development of artificial intelligence, and its application and prospect in the diagnosis and treatment of malignant tumors.


Assuntos
Inteligência Artificial , Neoplasias/diagnóstico , Neoplasias/terapia , Sistemas Inteligentes , Humanos
9.
Fa Yi Xue Za Zhi ; 34(5): 475-481, 2018 10.
Artigo em Zh, Inglês | MEDLINE | ID: mdl-30468048

RESUMO

Necrobiome is the main factor causing the cadaver decomposition. Studying the microbial succession during decomposition is one of the main tasks of forensic microbiology. The interactive relationships among cadaver, environment and microorganisms are complicated. The microbial succession study relies on macroscopic monitoring of community composition and the diversity change in each decomposition stage. With the maturity and development of high-throughput sequencing (HTS), the structure and diversity of microbial communities in different environments have been successively revealed. A new breakthrough to explore the cadaveric microorganisms has been opened as well. It has become the research hotspots in forensic microbiology to reveal the microbial succession in the process of cadaver decomposition and to interpret the essence of various decomposition phenomena by using HTS, which can provide a new reference for postmortem interval (PMI) estimation. The present paper reviews studies on PMI estimation by using cadaveric microorganism. Problems and application prospects of forensic microbiology studies are discussed on the basis of the current application of HTS technology in the exploration of microbial succession.


Assuntos
Bactérias , Sequenciamento de Nucleotídeos em Larga Escala , Mudanças Depois da Morte , Autopsia , Bactérias/genética , Cadáver , Humanos
10.
Surg Endosc ; 31(11): 4617-4624, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28409375

RESUMO

INTRODUCTION: Prior studies show promising results of the gastric peroral endoscopic pyloromyotomy (G-POEM) procedure for treatment of refractory gastroparesis. One major technical challenge involved in this procedure is identifying the pyloric muscular ring (PMR). The aim of this study is to establish a reliable method for identification of the PMR during G-POEM. METHODS: Fluoroscopy-guided G-POEM was performed by placing an endoclip at the 9 to 11'o clock position at the pylorus for identification of PMR. Conventional G-POEM was performed by observation of blue colored mucosa at the pylorus area as an indirect marker for PMR. The degree of the PMR identification was graded into well identified, identified, and not identified based on the appearance of the PMR. Procedure times were accurately documented. Gastroparesis cardinal symptoms index and gastric emptying scintigraphy were evaluated before and after the procedure. RESULTS: Fourteen patients were studied, seven underwent fluoroscopy-guided G-POEM, and seven patients underwent conventional G-POEM. All procedures achieved technical success and no adverse events occurred. In the seven patients who underwent fluoroscopy-guided G-POEM, the PMR was well identified in four patients and identified in three patients. In the seven patients who underwent conventional G-POEM, the PMR was identified in four patients and not identified in three patients. The average time to complete the fluoroscopy-guided G-POEM was significantly shorter than that of the conventional G-POEM. CONCLUSIONS: Fluoroscopy-guided G-POEM by placement of an endoclip at the pylorus was a reliable and safe method to direct the orientation of the submucosal tunnel, to facilitate the location of the PMR, and to shorten the procedure time.


Assuntos
Fluoroscopia/métodos , Gastroparesia/cirurgia , Gastroscopia/métodos , Piloromiotomia/métodos , Adulto , Estudos de Coortes , Feminino , Seguimentos , Esvaziamento Gástrico , Humanos , Masculino , Pessoa de Meia-Idade , Piloro/diagnóstico por imagem , Piloro/cirurgia , Estudos Retrospectivos , Instrumentos Cirúrgicos , Resultado do Tratamento
12.
Zhonghua Xin Xue Guan Bing Za Zhi ; 45(11): 958-962, 2017 Nov 24.
Artigo em Zh | MEDLINE | ID: mdl-29166723

RESUMO

Objective: To observe the correlation between Nε-carboxymethyl-Lysine (CML), the main component of advanced glycation end products and the calcification of the anterior tibial artery plaque in patients with diabetic foot post foot amputation. Methods: Sixty patients hospitalized for foot amputation operation due to diabetic foot from June 2012 to June 2016 in the Department of Orthopedics, Affiliated Hospital of Jiangsu University were prospectively recruited.The patients were categorized into mild stenosis (0

Assuntos
Amputação Cirúrgica , Pé Diabético/cirurgia , Produtos Finais de Glicação Avançada/sangue , Lisina/análogos & derivados , Calcinose , Constrição Patológica , Humanos , Lisina/sangue , Calcificação Vascular
13.
Int J Immunogenet ; 43(6): 383-390, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27682462

RESUMO

Toll-like receptor (TLR) 3 mediates antivirus immunity and is involved in asthma exacerbation and development. However, the genetic association between TLR3 and asthma remains unclear. This study aimed to evaluate the effects of polymorphisms within TLR3 on asthma risk and asthma-related phenotypes in the Chinese Han population. A total number of 462 unrelated adult patients with asthma and 398 healthy volunteers were enrolled in this study. The genotypes of tagging single nucleotide polymorphisms (SNPs) in TLR3 gene were determined using multiplex SNaPshot SNP genotyping assays. Case-control and case-only studies were used to assess any links with asthma and asthma-related phenotypes. The results showed that the genetic variants in TLR3 were associated with asthma-related phenotypes, including eosinophil counts, serum immunoglobulin E levels and lung function. However, there was no obvious association between the TLR3 SNPs and asthma susceptibility or asthma severity. TLR3 polymorphisms may play a considerable role in the pathogenesis of asthma. It will help in better understanding the pathogenesis of asthma and development of more effective strategies for the prevention, prediction and treatment of asthma.


Assuntos
Asma/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Receptor 3 Toll-Like/genética , Adolescente , Adulto , Idoso , Asma/sangue , Asma/patologia , Contagem de Células Sanguíneas , China , Eosinófilos/metabolismo , Genótipo , Humanos , Imunoglobulina E/sangue , Pulmão/fisiologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
14.
Zhonghua Xin Xue Guan Bing Za Zhi ; 44(9): 786-792, 2016 Sep 24.
Artigo em Zh | MEDLINE | ID: mdl-27667278

RESUMO

Objective: To investigate the effects of Notch1, 2, 3 genes silencing by siRNA on Notch signaling pathway (Delta-like 4(DLL4), Jagged 1(JAG1)) and nuclear factor-κB (NF-κB) signaling pathway (IκBα, P52) of macrophages derived from patients with coronary artery disease (CAD), thus to explore the potential genetic treatment perspectives for CAD. Methods: Peripheral blood mononuclear cells of CAD patients were isolated by density gradient centrifugation and transformed by phorbol-12-myristate-13-acetate (PMA) to macrophages. Macrophages were then transfected with Notch1-small interference RNA (siRNA, Notch1-siRNA group), Notch2-siRNA (Notch2-siRNA group), Notch3-siRNA (Notch3-siRNA group), negative control siRNA (NC group) and none siRNA (control group) respectively. Reverse transcription-polymerase chain reaction (RT-PCR) and Western blot analysis were applied to assess the mRNA and protein expression levels of DLL4, JAG1, IκBα and p52, respectively. Electrophoretic mobility shift assay (EMSA) was used to observe the NF-κB DNA binding activity. Subcellular distributions of NF-κB/p52 were detected through immunofluorescence. Results: (1) The mRNA and protein expressions of DLL4, JAG1 and p52 in Notch1-siRNA group, Notch2-siRNA group and Notch3-siRNA group were significantly downregulated, while the mRNA and protein expression of IκBα was significantly upregulated compared with NC group and control group(P<0.05 or 0.01). The mRNA and protein expressions of DLL4, JAG1 and p52 in Notch1-siRNA group were significantly downregulated, while the mRNA and protein expression of IκBα was significantly upregulated compared with Notch2-siRNA group and Notch3-siRNA group(P<0.05 or 0.01). The mRNA and protein expressions of DLL4, JAG1, IκBα and p52 were similar between NC group and control group (all P>0.05). (2) The binding activity of NF-κB DNA was significantly lower in Notch1-siRNA group (613±57), Notch2-siRNA group (1 169±85) and Notch3-siRNA group (1 454±90) compared with control group (2 643±115) and NC group (2 407±100) (all P<0.01), which was also significantly lower in Notch1-siRNA group compared to Notch2-siRNA group and Notch3-siRNA group (P<0.01); was significantly lower in Notch2-siRNA group compared with Notch3-siRNA group (P<0.01) and was similar between control group and NC group (P>0.05). (3) The fluorescence intensity of NF-κB/p52 was significantly lower both in the nucleus and cytoplasm in Notch1-siRNA group, Notch2-siRNA group and Notch3-siRNA group compared with NC group and control group (all P<0.01), and the decrease was more obviously in the nucleus than in cytoplasm in Notch1-siRNA group, Notch2-siRNA group and Notch3-siRNA group (P<0.05 or 0.01). The fluorescence intensity of NF-κB/p52 was similar between control group and NC group (P>0.05). Conclusion: There is a positive regulation between Notch and NF-κB pathway in macrophages derived from CAD patients, the regulation power on NF-κB signaling pathway of Notch1 is stronger than that of Notch2 and Notch 3.


Assuntos
Doença da Artéria Coronariana , Macrófagos , Transdução de Sinais , Humanos , Leucócitos Mononucleares , NF-kappa B , RNA Mensageiro , RNA Interferente Pequeno , Receptor Notch1 , Receptor Notch2 , Receptor Notch3 , Transfecção
15.
Genet Mol Res ; 14(4): 13667-78, 2015 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-26535682

RESUMO

Oryza officinalis has proven to be a natural gene reservoir for the improvement of domesticated rice as it carries many desirable traits; however, the transfer of elite genes to cultivated rice by conventional hybridization has been a challenge for rice breeders. In this study, the conserved sequence of plant stress-related NAC transcription factors was selected as a probe to screen the O. officinalis genomic transformation-competent artificial chromosome library by Southern blot; 11 positive transformation-competent artificial chromosome clones were subsequently detected. By Agrobacterium-mediated transformation, an indica rice variety, Huajingxian 74 (HJX74), was transformed with a TAC clone harboring a NAC gene-positive genomic fragment from O. officinalis. Molecular analysis revealed that the O. officinalis genomic fragment was integrated into the genome of HJX74. The transgenic lines exhibited high tolerance to drought stress. Our results demonstrate that the introduction of stress-related transformation-competent artificial chromosome clones, coupled with a transgenic validation approach, is an effective method of transferring agronomically important genes from O. officinalis to cultivated rice.


Assuntos
Cromossomos Artificiais , Secas , Oryza/genética , Estresse Fisiológico , Transformação Genética , Adaptação Biológica , Oryza/crescimento & desenvolvimento , Fenótipo , Plantas Geneticamente Modificadas , Característica Quantitativa Herdável
16.
Genet Mol Res ; 14(3): 11480-7, 2015 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-26436388

RESUMO

Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and identified a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by RP. This study actually confirms this novel mutation, and establishes the ARMS technique for the detection of mutations in RP.


Assuntos
Pareamento Incorreto de Bases/genética , Canais de Cálcio Tipo L/genética , Primers do DNA/metabolismo , Mutação de Sentido Incorreto/genética , Reação em Cadeia da Polimerase/métodos , Sequência de Bases , Heterozigoto , Humanos , Dados de Sequência Molecular , Mutação Puntual/genética , Reprodutibilidade dos Testes , Análise de Sequência de DNA
17.
Br J Cancer ; 111(11): 2131-41, 2014 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-25314054

RESUMO

BACKGROUND: Invasion and metastasis are the distinct biologic characteristics of cancer, resulting in an exceptionally low 5-year survival rate in pancreatic ductal adenocarcinoma (PDAC). Understanding in detail the mechanisms underlying PDAC metastasis is critical for prevention and effective interventions. Long non-coding RNAs (lncRNAs) have been documented as having a critical role in cancer development and progression. METHODS: We examined the expression levels of lncRNA ENST00000480739 and osteosarcoma amplified-9 (OS-9) mRNA in a cohort of 35 PDAC patients. Cell proliferation, invasion and migration were examined with and without ENST00000480739 overexpression in PDAC cells. RESULTS: We determined that the ENST00000480739 expression level was remarkably decreased in tumorous tissues compared with their corresponding non-tumorous tissues. The expression of ENST00000480739 was negatively associated with tumour node metastasis stage and lymph node metastasis. In addition, ENST0000048073 was an independent prognostic factor of survival time in PDAC patients following surgery. Besides, enforced expression of ENST00000480739 suppressed PDAC cells' invasion in vitro. Overexpression of ENST00000480739 significantly increased both mRNA and protein levels of OS-9, and the luciferase assays confirmed that ENST00000480739 positively regulates OS-9 by activating the transcription level of the OS-9 promoter. We further found that ENST00000480739 may target hypoxia-inducible factor-1α (HIF-1α) expression by upregulating OS-9. CONCLUSIONS: These findings suggest that the frequently downregulated ENST00000480739 in PDAC contributes to tumour metastasis and progression by regulating HIF-1α. Long non-coding RNA ENST00000480739 may provide not only a therapeutic potential to suppress metastasis but it may also be a novel biomarker for risk prognostication and personal therapy screening of PDAC patients.


Assuntos
Adenocarcinoma/patologia , Carcinoma Ductal Pancreático/patologia , Subunidade alfa do Fator 1 Induzível por Hipóxia/fisiologia , Lectinas/fisiologia , Proteínas de Neoplasias/fisiologia , Neoplasias Pancreáticas/patologia , RNA Longo não Codificante/fisiologia , Adenocarcinoma/genética , Adenocarcinoma/mortalidade , Animais , Carcinoma Ductal Pancreático/genética , Carcinoma Ductal Pancreático/mortalidade , Linhagem Celular Tumoral , Humanos , Metástase Linfática , Camundongos , Invasividade Neoplásica , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/mortalidade
18.
Zhonghua Er Ke Za Zhi ; 61(11): 995-1000, 2023 Nov 02.
Artigo em Zh | MEDLINE | ID: mdl-37899339

RESUMO

Objective: To analyze the clinical and genetic features of patients with mitochondrial pyruvate carrier deficiency (MPYCD). Methods: This was a case series research. The clinical data, genetic characteristics, and glutamine treatment efficacy of 3 patients diagnosed with MPYCD at the Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, Guizhou Provincial People's Hospital, from August 2019 to June 2023 were retrospectively collected. A literature search with "MPC1 gene" "MPC2 gene and" "mitochondrial pyruvate carrier deficiency" as keywords was conducted at the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure (CNKI) and PubMed (up to June 2023). Clinical and genetic characteristics of patients with MPYCD were summarized. Results: Case 1 was a 3 years and 11 months old boy, while case 2 was a 4 years and 10 months old boy and case 3 was an 8 years and 9 months old girl. Case 2 and case 3 were siblings from one consanguineous family. All 3 patients presented with general developmental delay, growth failure and elevated serum lactate. Cranial magnetic resonance imaging (MRI) showed subtle bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus in case 1, but normal in case 2 and 3. Trio-WES revealed case 1 harboring compound heterozygous missense variants c.208G>A (p.Ala70Thr) and c.290G>A (p.Arg97Gln) in MPC1 gene, while case 2 and 3 revealed a homozygous variant c.290G>A (p.Arg97Gln) in the same gene. All 3 cases were diagnosecl as MPYCD. Clinical symptoms including motor ability, cognition and activity endurance were improved in these 3 patients after taking glutamine for 2 years. A total of 5 articles published in English were reviewed, and no Chinese literature was found. Including these 3 cases, 15 cases were enrolled for analysis. Eleven patients carried MPC1 gene variants and 4 cases carried MPC2 gene variants. Except for 3 cases died during prenatal period, 9 of 12 enrolled born cases were onset before 6 months old. The most common clinical symptoms were mental and motor general developmental delay, microcephaly, growth failure and hypotonia. All patients had elevated blood lactate and pyruvate, but the ratio of lactate/pyruvate was normal. Seven patients performed cranial MRI, 3 exhibited non-specific changes, 2 showed bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus, and 3 were normal. A total of 5 MPC1 gene missense variants and 2 MPC2 gene variants were identified in 15 cases. Conclusions: Onset age of patients with MPYCD is usually within 6 months. The main clinical characteristics are developmental delay, microcephaly and growth failure, accompanied by increased serum lactate and pyruvate. Glutamine supplement could lead to clinical improvements.


Assuntos
Microcefalia , Transportadores de Ácidos Monocarboxílicos , Criança , Feminino , Humanos , Masculino , Glutamina , Lactatos , Piruvatos , Estudos Retrospectivos , Pré-Escolar
19.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 58(11): 1179-1184, 2023 Oct 26.
Artigo em Zh | MEDLINE | ID: mdl-37885192

RESUMO

Objective: To establish an intelligent registration algorithm under the framework of original-mirror alignment algorithm to construct three-dimensional(3D) facial midsagittal plane automatically. Dynamic Graph Registration Network (DGRNet) was established to realize the intelligent registration, in order to provide a reference for clinical digital design and analysis. Methods: Two hundred clinical patients without significant facial deformities were collected from October 2020 to October 2022 at Peking University School and Hospital of Stomatology. The DGRNet consists of constructing the feature vectors of key points in point original and mirror point clouds (X, Y), obtaining the correspondence of key points, and calculating the rotation and translation by singular value decomposition. Original and mirror point clouds were registrated and united. The principal component analysis (PCA) algorithm was used to obtain the DGRNet alignment midsagittal plane. The model was evaluated based on the coefficient of determination (R2) index for the translation and rotation matrix of test set. The angle error was evaluated on the 3D facial midsagittal plane constructed by the DGRNet alignment midsagittal plane and the iterative closet point(ICP) alignment midsagittal plane for 50 cases of clinical facial data. Results: The average angle error of the DGRNet alignment midsagittal plane and ICP alignment midsagittal plane was 1.05°±0.56°, and the minimum angle error was only 0.13°. The successful detection rate was 78%(39/50) within 1.50° and 90% (45/50)within 2.00°. Conclusions: This study proposes a new solution for the construction of 3D facial midsagittal plane based on the DGRNet alignment method with intelligent registration, which can improve the efficiency and effectiveness of treatment to some extent.

20.
J Nanosci Nanotechnol ; 12(3): 2586-90, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22755094

RESUMO

A facile solvothermal method was developed to fabricate CoS nanoplates using ethylenediamine as solvent. The microstructure characterizations indicate that the CoS nanoplates have well-crystalline hexagonal phase and regular hexagonal or pentagonal shape. The XPS and ICP-AES measurements confirm the chemical composition of nanoplates is S-deficient CoS0.921. Cathodoluminescence spectra of both a large area of the nanoplates and individual nanoplate show broad emission bands centered at 615 nm. Magnetic measurements including magnetization dependence of temperature and magnetic hysteresis loops reveals that the CoS nanoplates exhibit room-temperature ferromagnetic behavior. It is found that intrinsic point defects mainly as V(s), Co(i) and/or the complex defects of V(s) and Co(i) should be responsible for both the broad emission band and the unique ferromagnetism.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA