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1.
Clinics ; 78: 100120, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439908

ABSTRACT

Abstract Objectives: The incidence of cerebellar Glioblastoma Multiforme (cGBM) is rare. Database like TCGA have not distinguish cGBM from GBM, our knowledge on cGBM gene expression characteristics is limited. The expression status of Oligodendrocyte Lineage Transcription factor 2 (OLIG2) and its clinical significance in cGBM is still unclear. Methods: The clinical data and tissue specimens of 73 cGBM patients were retrospectively studied. The association between OLIG2 expression level and the demographic characteristics of cGBM patients was identified by the Chi-Square test. The survival curves were drawn by Kaplan-Meier analysis. The independent prognostic factors was calculated according to Cox regression analysis. Results: The OLIG2 high expression was observed in about 57.5% (42/73) of the cGBM patients. Patients with high OLIG2 expression levels had a higher alive ratio at the end of follow-up (alive ratio: 70.6% vs. 29.4%, p = 0.04). The median survival time was 21 months and 13 months for high and low expression of OLIG2 (p < 0 .05). Univariate analysis and Multivariate analysis indicated that EOR (HR = 3.89, 95% CI 1.23−12.26, p = 0.02), low OLIG2 expression (HR = 5.26, 95% CI 1.13−24.59, p = 0.04), and without adjuvant therapy (HR = 4.95, 95% CI 1.22−20.00, p = 0.03) were independent risk factors for the OS of cGBM patients. Conclusion: High expression level of OLIG2 could be used as an independent favorable prognosis indicator in cGBM patients and be recognized as a characteristic biomarker of cGBM.

2.
Odontoestomatol ; 24(39)2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1386409

ABSTRACT

Resumen Los tumores odontogénicos (TOs) son un grupo heterogéneo de lesiones que incluyen hamartomas hasta neoplasias benignas o malignas. El presente estudio tuvo como objetivo revisar la literatura sobre los aspectos moleculares y genéticos de algunos TOs benignos. A partir de los estudios revisados, se apoya la idea de que las causas genéticas pueden tener un papel importante en la etiología y en la patogénesis de algunos TOs. Sin embargo, las investigaciones sobre el tema aún no permiten concluir de manera sólida los mecanismos definitivos involucrados en el desarrollo y en la progresión de los TOs. Se sugiere el desarrollo de más estudios moleculares y genéticos que evalúen muestras significativas de TOs para establecer su etiopatogenia, facilitar su proceso diagnóstico y enriquecer su abordaje terapéutico.


Resumo Os tumores odontogênicos (TOs) são um grupo heterogêneo de lesões que variam desde hamartomas até neoplasias benignas ou malignas. O presente estudo teve como objetivo revisar a literatura sobre os aspectos moleculares e genéticos de alguns TOs benignos. A partir dos estudos revisados, apoia-se que as causas genéticas podem desempenhar um papel importante na etiologia e patogênese de alguns TOs. No entanto, as pesquisas sobre o assunto ainda não permitem uma conclusão sólida sobre os mecanismos definitivos envolvidos no desenvolvimento e progressão dos TOs. Sugere-se o desenvolvimento de mais estudos moleculares e genéticos para avaliar amostras significativas de TOs para estabelecer sua etiopatogenia, facilitar seu processo diagnóstico e enriquecer sua abordagem terapêutica.


Abstract Odontogenic tumors (OTs) are a heterogeneous group of lesions that range from hamartomas to benign or malignant neoplasms. The present study aimed to review the literature regarding the molecular and genetic aspects from some benign OTs. Based on the review of the included studies, it is supported that genetic background may play an important role in the etiology and pathogenesis of OTs. However, the body of evidence on the subject still does not allow to conclude the definitive mechanisms involved in the development and progression of OTs. It is suggested the development of further molecular and genetic studies evaluating significant samples of OTs to establish its etiopathogenesis, facilitate its diagnostic process and enrich the therapeutic approaches.

3.
Cancer Research on Prevention and Treatment ; (12): 1103-1106, 2022.
Article in Chinese | WPRIM | ID: wpr-986636

ABSTRACT

Glioblastoma is the most common primary malignant brain tumor. Despite large-scale researches have been carried out, the prognosis of glioblastoma is still not significantly improved. In recent years, with the application of multi-omics studies in glioblastoma, the understanding of glioblastoma has been deepened. The classification of glioblastoma has been revised; moreover, new therapeutic methods such as targeted therapy, immunotherapy and tumor treating fields have been developed on the basis of the standard therapy. This article reviews the recent progress in the diagnosis and treatment of glioblastoma.

4.
Cancer Research on Prevention and Treatment ; (12): 528-534, 2022.
Article in Chinese | WPRIM | ID: wpr-986549

ABSTRACT

Although the diagnosis of glioma is constantly changing with the update of WHO diagnostic guidelines, the current treatment methods are still mainly surgical treatment, supplemented by radiotherapy and chemotherapy. It is a pity that the treatment effect of high-grade glioma is still unsatisfactory. How to improve the prognosis of patients is the key problem in the field of medical exploration of glioma. It is gratifying that many new ideas and methods have emerged in the diagnosis and treatment of glioma, in which some trials represented by tumor treating fields have achieved good results in clinical research, moreover, the fields of immunotherapy and targeted therapy have developed too. This paper aims to share and explore these new methods and summarize the progress of diagnosis and treatment of glioma.

5.
International Eye Science ; (12): 805-809, 2021.
Article in Chinese | WPRIM | ID: wpr-876002

ABSTRACT

@#Exosomes are extracellular vesicles of sizes ranging from 50-150nm in diameter. Exosomes can deliver bioactive molecules(<i>e.g.</i> proteins, lipids, DNA, microRNA, <i>etc.</i>)into target cells which play an important role in cell-cell communication. Researches demonstrated that exosomes mediated cell-cell communication can impact cell apoptosis, invasion, migration, immune response and oxidative repair ability of recipient cells. Recently, researches on exosomes developed rapidly in the field of ophthalmology. This review summarized the latest research progress of exosomes in ophthalmic diseases.

6.
Acta Academiae Medicinae Sinicae ; (6): 444-451, 2020.
Article in Chinese | WPRIM | ID: wpr-826341

ABSTRACT

To explore the utility of apparent diffusion coefficient(ADC)histogram analysis for differentiating genetic subtypes of diffuse lower-grade gliomas. A total of 55 patients with WHO grade Ⅱ/Ⅲ diffuse lower-grade gliomas who underwent preoperative routine brain magnetic resonance imaging and diffusion weighted imaging in our center were retrospectively evaluated.Among whom there were 14 patients with isocitrate dehydrogenase(IDH)wild-type gliomas(IDH group),19 patients with IDH-mutant 1p19q intact gliomas(IDH 1p19q group),and 22 patients with IDH-mutant 1p19q co-deleted gliomas(IDH 1p19q group).The whole-lesion ADC values derived from histogram analysis(including ADC,ADC,ADC5%,ADC10%,ADC25%,ADC50%,ADC75%,ADC90%,ADC95%,ADC,mode,range,skewness,kurtosis,standard deviation,inhomogeneity,and entrophy)were measured for each patient.All parameters between the different genetic subtypes were compared by using the Student's test or Mann-Whitney test.Receiver operating curve(ROC)analysis was used to assess the diagnostic performance of ADC histogram in distinguishing the different genetic subtypes. Compared with IDH group,the ADC75%(=0.021),ADC90%(=0.015),ADC95%(=0.014),ADC (=0.035),range(=0.009),standard deviation(=0.001)and inhomogeneity(=0.001)were significantly lower in IDH group;in contrast,the ADC (=0.031)and kurtosis(=0.020)of IDH group were significantly higher than those in IDH group.The ADC(=0.010),ADC5%(=0.016),ADC10%(=0.012),ADC25%(=0.007),ADC50%(=0.005),ADC75%(=0.015),and mode(=0.002)were significantly higher in IDH 1p19q group than in IDH 1p19q group.Inhomogeneity achieved the highest area under ROC(AUC)(0.811)in differentiating IDH gliomas and IDH gliomas,with a cutoff value of 0.229;the sensitivity and specificity were 85.7% and 73.2%.The mode achieved the highest AUC(0.744)in differentiating IDH 1p19q gliomas and IDH 1p19q gliomas,with a cutoff value was 1448.75×10 mm /s;the sensitivity and specificity were 57.9% and 90.9%. ADC histograms analysis may be helpful to differentiate genetic subtypes in lower-grade gliomas.


Subject(s)
Humans , Brain Neoplasms , Diffusion Magnetic Resonance Imaging , Glioma , ROC Curve , Retrospective Studies
7.
Arch. argent. pediatr ; 117(3): 274-278, jun. 2019. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1001201

ABSTRACT

El síndrome de Ehlers-Danlos es un conjunto de trastornos hereditarios del tejido conectivo, clínica y genéticamente heterogéneos, caracterizados por hiperextensibilidad cutánea, pobre cicatrización, hipermovilidad articular y friabilidad tisular. Desde 1997, se han reportado variantes poco frecuentes del síndrome, entre las cuales se incluye el de tipo cifoescoliótico, causado por mutaciones en el gen PLOD1, caracterizado por hipotonía muscular grave al nacer, cifoescoliosis grave progresiva, osteopenia, ojos frágiles y fragilidad vascular. También ha sido descrita una rara variante recesiva que compromete el gen FKBP14, con hallazgos clínicos adicionales, que incluyen retardo del desarrollo psicomotor, miopatía, hipoacusia y una proporción normal de lisil-piridinolina a hidroxilisil-piridinolina en la orina. Se presenta el primer caso de una paciente colombiana con una mutación FKBP14 c.362dupC, caracterizada por hipotonía generalizada, retardo en el desarrollo de los hitos motores gruesos, hipoacusia, cifoescoliosis progresiva temprana, hipermovilidad articular y deformidades en los pies.


Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous inherited connective tissue disorders, characterized by skin hyperextensibility, poor wound healing, joint hypermobility and tissue friability. Since 1997 a new spectrum of novel rare EDS-variants has been described, among which is included the EDS kyphoscoliotic type, characterized by severe muscular hypotonia at birth, severe progressive kyphoscoliosis, osteopenia, fragile eyeballs and vascular fragility. This EDS variant is caused by mutations in the PLOD1 gene; however, a rare recessive variant that compromises the FKBP14 gene has been reported, with additional clinical findings that includes gross motor developmental delay, myopathy, hearing impairment and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline in urine. We report the first Colombian patient with a FKBP14 c.362dupC mutation, with clinical features that include generalized hypotonia, delayed gross motor milestones, hearing loss, early-onset progressive kyphoscoliosis, joint hypermobility and foot deformities.


Subject(s)
Humans , Female , Adolescent , Spinal Curvatures , Ehlers-Danlos Syndrome , Pathology, Molecular
8.
Article | IMSEAR | ID: sea-211165

ABSTRACT

Background: Lung cancer is a leading cause of mortality worldwide and is increasing at an alarming rate in developing countries. Inspite of advances in treatment, prognosis of lung cancer is extremely poor. It is because of delayed presentation and difficulty in obtaining histological diagnosis. Histological confirmation is difficult in all cases due to the limited biopsy specimen obtained via bronchscopy / transthroacic biopsy. Primary objective was to study the histology of lung cancer at a tertiary care centre in South India. Secondary objective was to study association between smoking habit and histological type of lung cancerMethods: Cross sectional study conducted at Tertiary teaching hospital, South India in 100 patients with suspected lung cancer. Data on symptoms, smoking status, histological diagnosis were recorded using a structured questionnaire. Statistical analysis was done on the data collected. Chi square test was used to assess the statistical significance.Results: Total 100 lung cancer patients with histopathological diagnosis were included in the study. In the present study, histopathologically 90% of the patients had non-small cell lung cancer and 10% had small cell type of cancer. In male patients squamous cell carcinoma was the most common diagnosis, and majority were smokers. In female most common type was adenocarcinoma (40%).Conclusions: Adenocarcinoma (41.9%) was the commonest histological type in our study and this was the commonest histological type seen in females and nonsmokers.

9.
Journal of Laboratory Medicine and Quality Assurance ; : 199-210, 2018.
Article in Korean | WPRIM | ID: wpr-718773

ABSTRACT

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.


Subject(s)
Achondroplasia , Acidosis, Lactic , Angelman Syndrome , Apolipoproteins , Brain Diseases , Breast , Deafness , Education , Epilepsies, Myoclonic , Fragile X Syndrome , Gene Rearrangement , Hearing Loss , Hepatolenticular Degeneration , Huntington Disease , Janus Kinase 2 , Korea , Laboratory Proficiency Testing , Leukemia , Li-Fraumeni Syndrome , Methylenetetrahydrofolate Reductase (NADPH2) , Molecular Biology , Multiple Endocrine Neoplasia , Muscular Atrophy, Spinal , Muscular Disorders, Atrophic , Muscular Dystrophy, Duchenne , Optic Atrophy, Hereditary, Leber , Ovarian Neoplasms , Pathology, Molecular , Phosphotransferases , Quality Control , Quality Improvement , Spinocerebellar Ataxias , Vascular Endothelial Growth Factor Receptor-1
10.
Chinese Journal of Digestive Surgery ; (12): 418-422, 2018.
Article in Chinese | WPRIM | ID: wpr-699137

ABSTRACT

Pancreatic cancer is the most lethal of all solid tumor because of poor prognosis and treatment response.Advances in whole genome sequencing and other techniques facilitate more complete understanding of molecular pathogenesis in pancreatic cancer.Authors provided a brief overview of current progress in molecular pathology of pancreatic cancer.

12.
Appl. cancer res ; 37: 1-13, 2017. ilus
Article in English | LILACS, Inca | ID: biblio-915440

ABSTRACT

Molecular pathology is playing an increasingly important role in the treatment and overall management of patients with colorectal carcinoma. Three distinct genetic pathways have been identified that play a role in carcinogenesis: the chromosomal instability pathway, the microsatellite instability pathway, and the CpG island methylator phenotype pathway. Certain genetic mutations, some of which overlap with the aforementioned pathways, can also indicate that a carcinoma patient has a genetic predisposition syndrome, such as familial adenomatous polyposis, Lynch syndrome, and hamartomatous polyposis syndromes. A variety of advanced methods, including next-generation sequencing, are available to test for these and other mutations, such as targetable mutations that may allow tailoring of a treatment regimen to a patient's specific cancer (e.g., KRAS and BRAF mutations). The possible future role of testing circulating tumor cells is also addressed. New mutations and syndromes continue to be discovered, ensuring that our knowledge of colorectal carcinoma and our ability to treat it will advance in the future (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Neoplastic Syndromes, Hereditary , Colorectal Neoplasms/genetics , Chromosomal Instability , Pathology, Molecular , Carcinogenesis
13.
Journal of Pathology and Translational Medicine ; : 191-204, 2017.
Article in English | WPRIM | ID: wpr-38104

ABSTRACT

Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Society of Pathologists developed laboratory guidelines for NGS cancer panel testing procedures and requirements for clinical implementation of NGS. This consensus standard proposal consists of two parts: laboratory guidelines and requirements for clinical NGS laboratories. The laboratory guidelines part addressed several important issues across multistep NGS cancer panel tests including choice of gene panel and platform, sample handling, nucleic acid management, sample identity tracking, library preparation, sequencing, analysis and reporting. Requirements for clinical NGS tests were summarized in terms of documentation, validation, quality management, and other required written policies. Together with appropriate pathologist training and international laboratory standards, these laboratory standards would help molecular pathology laboratories to successfully implement NGS cancer panel tests in clinic. In this way, the oncology community would be able to help patients to benefit more from personalized cancer medicine.


Subject(s)
Humans , Consensus , High-Throughput Nucleotide Sequencing , Korea , Pathology, Molecular , Practice Guidelines as Topic , Quality Control
14.
Chinese Journal of Clinical Oncology ; (24): 14-18, 2017.
Article in Chinese | WPRIM | ID: wpr-507039

ABSTRACT

Soft tissue tumors have specific morphologies. In many cases, differential diagnoses pose a challenge, and as such, immuno-histochemical and molecular methods are often needed. With the development of molecular genetics, the discovery of new diagnostic antibodies and genetic targets, and the emergence of further applications to clinical practice, clinically individualized and precision treatments have also been widely used. In the future, however, we must further investigate the molecular mechanisms of soft tissue tumors to improve their diagnosis and treatment.

15.
Chinese Journal of Clinical and Experimental Pathology ; (12): 183-185,189, 2017.
Article in Chinese | WPRIM | ID: wpr-606624

ABSTRACT

Purpose To investigate the clinicopathological features,diagnosis and differential diagnosis of myxoid synovial sarcoma (MSS).Methods Clinicopathological changes and immunophenotype were retrospectively evaluated in two MSS cases collected from Fujian Provincial Hospital,conbined with genetic mutation analysis.The relevant literatures were reviewed to explore its clinical and pathological features of this tumor.Restilts The two cases,one man and one woman,aged 71 and 15years,respectively.Tumor was located in the left down abdomen in case 1,and left frontal temporal lobe in case 2.Histopathologically,at low magnification in case 1,the tumor was nodular,which was made up of areas of hypercellularity and hypocellularity.In some areas of hypocellularity,the tumor cells were arranged in fascicular,story-form,sheet arrangements with mucoid degeneration.In hypercellularity area,the tumor cells were arranged in fascicular,fish bone-liked arrangenents.At low magnification in case 2,the tumor was nodular,which was made up of areas of hypercellularity and hypocellularity.In hypocellularity area,the tumor cells were arranged in net-like,sheet arrangements,and fascicular,sheet arrangements in case 2.In some area,the tumor cells were epithelioid with cluster distribution,without infringing brain tissue.Immunohistochemically,the tumor cells were diffusely positive for BCL-2,vimentin,and α-SMA and EMA were partially positive,while CD34,CD57,S-100,CD117,PLAP were negative.However,in case 2,only BCL-2 was positive,and MyoD1,GFAP,Olig-2,EMA,Syn,CD99,CgA,S-100,Myogenin,STAT6,CD34,desmin and α-SMA were negative.Molecular detection SYT-SSX fusion gene was detected in both cases.Conclusion MSS is a rare malignancy of soft tissue.The diagnosis of MSS depends on molecular pathology.The clinical and pathological findings are different from mucinous fibrosarcoma and solitary fibrous tumor.The treatment is surgical resection,combined with radiotherapy,with poor prognosis.

16.
Journal of Forensic Medicine ; (6): 457-469, 2017.
Article in Chinese | WPRIM | ID: wpr-663691

ABSTRACT

Sudden death (SD) is a special kind of death owing to disease,which severely threatening the lives of community population.As the most common type of SD,sudden cardiac death (SCD) has always been a crucial content of identification and research in forensic pathology.This article reviews the research progress from the aspects of epidemiology,morphology,molecular pathology and virtual anatomy of SCD in forensic medicine,so as to provide a reference for the morphological identification,determination of cause of death,and integrated control of this kind of SD.

17.
Indian J Ophthalmol ; 2016 Nov; 64(11): 794-802
Article in English | IMSEAR | ID: sea-183127

ABSTRACT

Parasites are a group of eukaryotic organisms that may be free‑living or form a symbiotic or parasitic relationship with the hosts. Consisting of over 800,000 recognized species, parasites may be unicellular (Protozoa) or multicellular (helminths and arthropods). The association of parasites with human population started long before the emergence of civilization. Parasitic zoonotic diseases are prevalent worldwide including India. Appropriate epidemiological data are lacking on existing zoonotic parasitic diseases, and newer diseases are emerging in our scenario. Systemic diseases such as cysticercosis, paragonimiasis, hydatidosis, and toxoplasmosis are fairly common. Acquired Toxoplasma infections are rising in immune‑deficient individuals. Amongst the ocular parasitic diseases, various protozoas such as Cystoidea, trematodes, tissue flagellates, sporozoas etc. affect humans in general and eyes in particular, in different parts of the world. These zoonoses seem to be a real health related problem globally. Recent intensification of research throughout the world has led to specialization in biological fields, creating a conducive situation for researchers interested in this subject. The basics of parasitology lie in morphology, pathology, and with recent updates in molecular parasitology, the scope has extended further. The current review is to address the recent update in ophthalmic parasites with special reference to pathology and give a glimpse of further research in this field.

18.
Arq. gastroenterol ; 53(2): 113-117, April.-June 2016. tab
Article in English | LILACS | ID: lil-783810

ABSTRACT

ABSTRACT Background - Antimicrobial resistance is the major factor leading to eradication failure in H. pylori treatment. Molecular tests are useful to detect genetic mutations predictive of clarithromycin and fluoroquinolones resistance. Knowledge of the local prevalence rate of resistance is important to define the best recommended treatment. Objective - To assess the prevalence of primary resistance of H. pylori to clarithromycin and fluoroquinolones, using a molecular test, in a Southeastern urban Brazilian population. Methods - A total of 72 H. pylori seropositive patients [65% female, mean age 39 (19-73) years] never treated before for this infection were studied. All patients underwent gastroscopy in addition to antrum and corpus biopsies and molecular test GenoType HelicoDR (Hain Life Science, Germany) to detect H. pylori and point mutations in genes responsible for clarithromycin and fluoroquinolone resistance. The molecular procedure was divided into three steps: DNA extraction from biopsy samples, a multiplex amplification with biotinylated primers and a reverse hybridization. The most frequent point mutations involved in resistance to the two antibiotics were evaluated. Results - Resistance to clarithromycin was detected in nine (12.5%) patients and to fluoroquinolones in eight (11.1%) patients. The point mutation A2147G was the most common (77.8%) among resistant strains to clarithromycin. In 50% of the resistant strains to fluoroquinolones, the mutant codon couldn't be identified. Conclusion - The resistance rates to clarithromycin and fluorquinolones in a large urban population in the Southeast of Brazil were acceptable, suggesting that these drugs remain appropriate options to first and second-line of H. pylori treatment. The molecular test represents an adequate diagnostic tool for monitoring H. pylori resistance.


RESUMO Contexto - A resistência aos antimicrobianos é o principal fator associado à falha terapêutica no tratamento do H. pylori. Testes moleculares são úteis na detecção das mutações genéticas associadas ao desenvolvimento de resistência à claritromicina e fluorquinolonas. O conhecimento da taxa de prevalência local de resistência é importante na definição do melhor esquema terapêutico. Objetivo - Estimar a prevalência de resistência primária do H. pylori à claritromicina e fluorquinolonas, empregando-se um teste molecular, em uma capital do Sudeste do Brasil. Métodos - Setenta e dois pacientes com sorologia positiva para H. pylori [65% mulheres, idade média 39 (19-73) anos], nunca tratados previamente para essa infecção, foram selecionados. Todos os pacientes submeteram-se à endoscopia digestiva com biópsias de antro e corpo e realização do teste molecular GenoType HelicoDR (Hain Life Science, Alemanha) para a detecção do H. pylori e das mutações pontuais dos genes responsáveis pela resistência à claritromicina e fluorquinolonas. O procedimento molecular constituía-se de três etapas: extração do DNA a partir das amostras endoscópicas, amplificação multiplex com primers biotinilados e hibridização reversa. As mutações pontuais mais frequentemente envolvidas com resistência aos dois antibióticos foram avaliadas. Resultados - Resistência à claritromicina foi detectada em nove (12,5%) pacientes e às fluorquinolonas em oito (11,1%) pacientes. A mutação pontual A2147G foi a mais comum (77,8%) entre as cepas resistentes à claritromicina. Em 50% das cepas resistentes à fluorquinolonas, o códon mutante não pôde ser identificado. Conclusão - As taxas de resistência à claritromicina (12,5%) e às fluorquinolonas (11,1%), em uma importante capital do Sudeste do Brasil, mostraram índices aceitáveis, sugerindo que essas drogas permanecem opções apropriadas para o tratamento de primeira e segunda linha do H. pylori. O teste molecular constitui uma ferramenta diagnóstica adequada para monitorar a resistência do H. pylori.


Subject(s)
Humans , Male , Female , Adult , Aged , Young Adult , Helicobacter pylori/drug effects , Helicobacter Infections/microbiology , Clarithromycin/pharmacology , Fluoroquinolones/pharmacology , Drug Resistance, Bacterial , Anti-Bacterial Agents/pharmacology , Urban Population , Biopsy , Risk Factors , Helicobacter pylori/isolation & purification , Helicobacter pylori/genetics , Helicobacter Infections/drug therapy , Clarithromycin/therapeutic use , Fluoroquinolones/therapeutic use , Middle Aged , Anti-Bacterial Agents/therapeutic use , Mutation/genetics
19.
Chinese Journal of Clinical Oncology ; (24): 541-544, 2016.
Article in Chinese | WPRIM | ID: wpr-492865

ABSTRACT

Diffuse lower-grade glioma is a diversified group of infiltrative brain tumors comprising WHO grades II and III astrocytomas, oligodendrogliomas, and mixed oligoastrocytomas. These tumors exhibit a wide range of clinical heterogeneity;thus, histopathological classification does not adequately predict clinical outcomes. In recent years, a number of molecular markers closely related to the clini-cal features and prognosis of gliomas have been discovered. These molecular markers include isocitrate dehydrogenase (IDH) muta-tion, chromosome 1p/19q codeletion, ATRX mutation, TERT promoter mutation, and MGMT promoter methylation. Furthermore, nu-merous studies focusing on the integrated molecular classification of diffuse lower-grade gliomas combined with these molecular markers have been conducted. Results indicate that integrated molecular pathological classification can improve the diagnostic and prognostic accuracy and facilitate therapeutic formulation. This paper reviews the research progress on integrated molecular classifica-tion of diffuse lower-grade gliomas.

20.
Chinese Journal of Endocrine Surgery ; (6): 244-247, 2016.
Article in Chinese | WPRIM | ID: wpr-497910

ABSTRACT

Pancreatic neuroendoerine tumors (PNET) is a complicated and heterogeneous group of neoplasia,and the incidence of PNET is growing rapidly recently.The current study on PNET lags behind what is known of other pancreatic tumors.Therefore,understanding of the molecular pathology is important for improving the early diagnosis,treatment and prognosis.With the development of molecular biology,there are already several potential targets proved to have application role in treatment of PNET.Here,the authors present the current knowledge about the molecular alterations of PNET.

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