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1.
Orv Hetil ; 160(36): 1417-1425, 2019 Sep.
Artigo em Húngaro | MEDLINE | ID: mdl-31492087

RESUMO

Introduction: Twenty-five percent of fine-needle aspiration biopsy samples of thyroid nodules produce indeterminate cytological results. Genetic testing of nodules can contribute to accurate diagnosis. Aim: Developing the first gene panel in Europe utilizing the 23 most relevant thyroid oncogenes with 568 mutations. Method: Examination of the isolated DNA from biopsy samples by Ion Torrent new generation sequencing. Results: The validation of our method was performed on tumor tissue samples, in which 127 genetic variations were identified, yet unknown in thyroid tumors. AXIN1 was the most polymorphic gene, while BRAF c.1799T>A (V600E) was the most frequently identified mutation. We detected 36 clinically relevant variants, 75% of which have not been described in the literature. Six of our 8 cytologically malignant and 8 of our 14 indeterminate as well as 20 of our 28 cytologically benign samples were identified as containing pathologic variants in a driver gene (BRAF c.1799T>A, NRAS c.181C>A). Conclusion: We have developed a validated, reliable new generation sequencing-based method with high positive predictive value (89%) and sensitivity (79%), suitable for the early detection of malignant lesions in the thyroid. Orv Hetil. 2019; 160(36): 1417-1425.


Assuntos
Testes Genéticos/métodos , Patologia Molecular/métodos , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/genética , Nódulo da Glândula Tireoide/genética , Biópsia por Agulha Fina/métodos , Análise Mutacional de DNA , Europa (Continente) , Humanos , Mutação , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/patologia
2.
Ther Umsch ; 76(4): 173-178, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31498035

RESUMO

Current methods in molecular pathology Abstract. Macroscopy and microscopy were the cornerstones of tumor analysis in pathology for many years. Recently, we have witnessed an enormous increase in knowledge of genetic and epigenetic alterations occurring in tumors. The detection of these alterations is becoming increasingly important during pathological work-up because they have an important impact on the diagnosis, prognosis, therapy, and prevention of tumors. It is therefore crucial to have appropriate methods available to detect these genetic alterations, such as mutations, translocations or changes in the methylation profile. In the following review article, we will present current methods that are being applied in molecular pathology.


Assuntos
Neoplasias , Patologia Molecular , Epigênese Genética , Humanos , Prognóstico
3.
J Clin Pathol ; 72(11): 725-735, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31395625

RESUMO

Neurodegenerative diseases are characterised by selective dysfunction and progressive loss of synapses and neurons associated with pathologically altered proteins that deposit primarily in the human brain and spinal cord. Recent discoveries have identified a spectrum of distinct immunohistochemically and biochemically detectable proteins, which serve as a basis for protein-based disease classification. Diagnostic criteria have been updated and disease staging procedures have been proposed. These are based on novel concepts which recognise that (1) most of these proteins follow a sequential distribution pattern in the brain suggesting a seeding mechanism and cell-to-cell propagation; (2) some of the neurodegeneration-associated proteins can be detected in peripheral organs; and (3) concomitant presence of neurodegeneration-associated proteins is more the rule than the exception. These concepts, together with the fact that the clinical symptoms do not unequivocally reflect the molecular pathological background, place the neuropathological examination at the centre of requirements for an accurate diagnosis. The need for quality control in biomarker development, clinical and neuroimaging studies, and evaluation of therapy trials, as well as an increasing demand for the general public to better understand human brain disorders, underlines the importance for a renaissance of postmortem neuropathological studies at this time. This review summarises recent advances in neuropathological diagnosis and reports novel aspects of relevance for general pathological practice.


Assuntos
Proteínas do Tecido Nervoso/metabolismo , Sistema Nervoso/metabolismo , Doenças Neurodegenerativas/metabolismo , Patologia Molecular/métodos , Biomarcadores/metabolismo , Biópsia , Humanos , Imuno-Histoquímica , Sistema Nervoso/patologia , Doenças Neurodegenerativas/classificação , Doenças Neurodegenerativas/patologia , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes
5.
Hautarzt ; 70(10): 760-765, 2019 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-31468073

RESUMO

BACKGROUND: Using current diagnostic tools for hand eczema, namely clinical picture and histology, differential diagnoses such as psoriasis palmaris usually cannot be ruled out. OBJECTIVES: Discussion of current diagnostic possibilities for hand eczema; presentation and critical evaluation of proposed biomarkers for molecular diagnostics and outlook how diagnostics in dermatology will change in the near future. MATERIALS AND METHODS: In this article, we discuss basic research and provide a review of the literature. RESULTS: Molecular diagnostics has the potential to substantially improve diagnosis of hand eczema; prerequisites are prospective validation of proposed markers and availability of valid and cost-effective diagnostics. CONCLUSIONS: In the near future, the diagnosis of hand eczema will be complemented by software algorithms and artificial intelligence on the one hand and simple, precise, and economic molecular diagnostic devices on the other.


Assuntos
Dermatologia , Eczema/diagnóstico , Dermatoses da Mão/diagnóstico , Medicina de Precisão , Algoritmos , Inteligência Artificial , Dermatologia/tendências , Humanos , Patologia Molecular , Software
6.
Hautarzt ; 70(9): 661-669, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31468069

RESUMO

Atypical fibroxanthoma (AFX) or undifferentiated pleomorphic sarcoma (UPS) is a rare malignant neoplastic disease of the skin. At the beginning of the 1960s AFX was described as an independent entity and superficial variant of malignant fibrous histiocytoma (MFH). Since then, many controversies on the classification have arisen mainly because in many cases dedifferentiated neoplasms from other origins were falsely diagnosed as AFX. A relevant deep expansion, the invasion of nerves and vessels or the presence of tumor necrosis are described as being typical for UPS; however, in the first-line they represent risk factors for recurrence. In view of the clinical and histological features it is meaningful to consider AFX and UPS as one disease. In recent years many studies on the molecular pathological background have attempted to make a better classification of the neoplasm, without being able to so far name a certain specific histopathological or molecular pathological characteristic. The AFX/UPS is still in essence a morphological and immunohistochemical diagnosis by exclusion.


Assuntos
Histiocitoma Fibroso Maligno/patologia , Neoplasias Cutâneas/patologia , Diagnóstico Diferencial , Humanos , Recidiva Local de Neoplasia , Patologia Molecular
7.
Plant Dis ; 103(9): 2237-2245, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31306089

RESUMO

Phakopsora pachyrhizi, the causal agent of soybean rust (SBR), is a global threat to soybean production. Since the discovery of SBR in the continental United States, quantitative polymerase chain reaction assays based on the internal transcribed spacer (ITS) ribosomal DNA locus were established for its rapid detection. However, insufficient data were initially available to test assays against factors that could give rise to misidentification. This study aimed to reevaluate current assays for (i) the potential for false-positive detection caused by nontarget Phakopsora species and (ii) the potential for false-negative detection caused by intraspecific variation within the ITS locus of P. pachyrhizi. A large amount of intraspecific and intragenomic variation in ITS was detected, including the presence of polymorphic ITS copies within single leaf samples and within single rust sori. The diagnostic assays were not affected by polymorphisms in the ITS region; however, current assays are at risk of false positives when screened against other species of Phakopsora. This study raises caveats to the use of multicopy genes (e.g., ITS) in single-gene detection assays and discusses the pitfalls of inferences concerning the aerobiological pathways of disease spread made in the absence of an evaluation of intragenomic ITS heterogeneity.


Assuntos
Variação Genética , Phakopsora pachyrhizi , Doenças das Plantas , DNA Espaçador Ribossômico/genética , Técnicas de Diagnóstico Molecular/normas , Patologia Molecular , Phakopsora pachyrhizi/genética , Doenças das Plantas/microbiologia , Soja/microbiologia , Estados Unidos
9.
J Biomed Nanotechnol ; 15(7): 1598-1608, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31196362

RESUMO

We utilized Amplicon-Rescue Multiplex PCR (ARM-PCR) and microarray hybridization to develop and validate the iC-GPC Assay, a multiplexed, in vitro diagnostic test that identifies five of the most common gram positive bacteria and three clinically relevant resistance markers associated with bloodstream infections (BSI). The iC-GPC Assay is designed for use with the iC-System™, which automates sample preparation, ARM-PCR, and microarray detection within a closed cassette. Herein, we determined the limit of detection for each of the iC-GPC Assay targets to be between 3.0 × 105-1.7 × 107 CFU/mL, well below clinically relevant bacterial levels for positive blood cultures. Additionally, we tested 106 strains for assay inclusivity and observed a target performance of 99.4%. 95 of 96 non-target organisms tested negative for cross-reactivity, thereby assuring a high level of assay specificity. Overall performance above 99% was observed for iC-GPC Assay reproducibility studies across multiple sites, operators and cassette lots. In conclusion, the iC-GPC Assay is capable of accurately and rapidly identifying bacterial species and resistance determinants present in blood cultures containing gram positive bacteria. Utilizing molecular diagnostics like the iC-GPC Assay will decrease time to treatment, healthcare costs, and BSI-related mortality.


Assuntos
Reação em Cadeia da Polimerase Multiplex , Patologia Molecular , Bactérias Gram-Positivas , Reprodutibilidade dos Testes
10.
Pathologe ; 40(3): 243-249, 2019 May.
Artigo em Alemão | MEDLINE | ID: mdl-31037375

RESUMO

BACKGROUND: Due to the increasing amount of data and sources of information, data evaluation is a crucial step in parallel sequencing. OBJECTIVES: Illustration of pitfalls in evaluating the variant list of parallel sequencing and recommendations regarding software tools and databases. METHODS: Description of filtering steps used, demonstration of criteria and recommendations for annotation by examples from everyday work, comparative analysis of databases with somatic variants, description of the installation of an individualized database. RESULTS: Variant filtering is a multistep process using information from different databases. The plausibility of variant calling should be verified using the Integrative Genomics Viewer and variants should be described according to the Human Genome Variation Society (HGVS) recommendations. Different databases, which all show advantages and disadvantages, are available for variant interpretation. An individualized database can be built up with the open-source tool cBioPortal. CONCLUSIONS: Different tools and databases might be used for the analysis of parallel sequencing data. The application depends on, amongst other things, the local situation and has to be extensively validated.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Patologia Molecular , Bases de Dados Genéticas , Variação Genética , Genoma Humano , Humanos , Software
11.
Microbiol Immunol ; 63(6): 199-205, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31045263

RESUMO

Success in eradication of Helicobacter pylori is declining globally because H. pylori has developed resistance against most of the antibiotics proposed for eradication regimens, mainly through point mutations. The present study included 200 patients with dyspepsia attending Taif Hospital. Gastric biopsies were obtained during gastroscopy and subjected to rapid urease testing. Molecular methods were used to confirm diagnoses of H. pylori infection and to identify resistance gene variants of four antibiotics; namely, clarithromycin, metronidazole, fluoroquinolones and tetracycline (23S rRNA, gyrA, rdxA and 16S rRNA respectively). Of all investigated patients, Molecular diagnoses were made in 143 of all investigated patients; thus, the prevalence was .5%. The overall rate of resistance to clarithromycin among the H. pylori-positive patients was high (39.9%) and the rate of resistance significantly greater (48.2%) among the secondary resistance group, secondary resistance being defined as resistance as a result of previous exposure to the relevant antibiotic. The rate of resistance to fluoroquinolones was considered moderate; the difference in rate of resistance between the primary and secondary resistance groups (8.4% and 9.5%, respectively) was not significant Also, there was a low prevalence of both primary and the secondary tetracycline resistance in the study cohort. In contrast, the prevalence of metronidazole resistance was considered high with no significant difference between the two resistance groups. H. pylori showed an increased prevalence of resistance to all four of the commonly used therapeutic agents. Thus, eradication therapy should be based on the regional results of susceptibility testing. Moreover, treatment tailored according to individually determined H. pylori susceptibility may be a reasonable future goal.


Assuntos
Farmacorresistência Bacteriana Múltipla/genética , Infecções por Helicobacter/diagnóstico , Helicobacter pylori/genética , Helicobacter pylori/isolamento & purificação , Patologia Molecular , Adulto , Idoso , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , Claritromicina/farmacologia , Estudos de Coortes , DNA Girase/genética , Farmacorresistência Bacteriana Múltipla/efeitos dos fármacos , Feminino , Fluoroquinolonas/farmacologia , Infecções por Helicobacter/epidemiologia , Helicobacter pylori/efeitos dos fármacos , Helicobacter pylori/patogenicidade , Humanos , Masculino , Metronidazol/farmacologia , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Epidemiologia Molecular , Nitrorredutases/genética , Prevalência , RNA Ribossômico 16S/genética , RNA Ribossômico 23S/genética , Arábia Saudita/epidemiologia , Tetraciclina/farmacologia , Adulto Jovem
12.
Urologe A ; 58(7): 747-751, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31049636

RESUMO

Besides evidence- and guideline-based tumor therapy, personalized targeted therapies within study settings or individual experimental settings in advanced cancers without further therapeutic options are emerging. A comprehensive molecular analysis of the tumor in a molecular pathology laboratory is important for all targeted therapy approaches. However, the interpretation of the molecular results is crucial and potential therapeutic conclusions can only be drawn by considering the clinical situation and within a setting of oncological experience. Therefore, the molecular results and their potential impact have to be discussed at a molecular tumor board, an interdisciplinary expert team consisting of clinicians, oncologists, (molecular) pathologists, systems physicians, study teams and where required geneticists. If the molecular tumor board decides a targeted therapeutic approach is appropriate, patients should be enrolled in studies or registries with controlled settings and documentation in order to evaluate the therapeutic concepts. Furthermore, molecular-based individual experimental therapies are possible within extreme clinical situations.


Assuntos
Terapia de Alvo Molecular , Neoplasias/genética , Patologistas , Patologia Molecular , Neoplasias Urológicas , Urologistas , Testes Genéticos , Humanos , Pesquisa Interdisciplinar , Patologia Molecular/métodos , Equipe de Assistência ao Paciente , Medicina de Precisão/métodos
13.
Cancer Causes Control ; 30(8): 799-811, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31069578

RESUMO

An important premise of epidemiology is that individuals with the same disease share similar underlying etiologies and clinical outcomes. In the past few decades, our knowledge of disease pathogenesis has improved, and disease classification systems have evolved to the point where no complex disease processes are considered homogenous. As a result, pathology and epidemiology have been integrated into the single, unified field of molecular pathological epidemiology (MPE). Advancing integrative molecular and population-level health sciences and addressing the unique research challenges specific to the field of MPE necessitates assembling experts in diverse fields, including epidemiology, pathology, biostatistics, computational biology, bioinformatics, genomics, immunology, and nutritional and environmental sciences. Integrating these seemingly divergent fields can lead to a greater understanding of pathogenic processes. The International MPE Meeting Series fosters discussion that addresses the specific research questions and challenges in this emerging field. The purpose of the meeting series is to: discuss novel methods to integrate pathology and epidemiology; discuss studies that provide pathogenic insights into population impact; and educate next-generation scientists. Herein, we share the proceedings of the Fourth International MPE Meeting, held in Boston, MA, USA, on 30 May-1 June, 2018. Major themes of this meeting included 'integrated genetic and molecular pathologic epidemiology', 'immunology-MPE', and 'novel disease phenotyping'. The key priority areas for future research identified by meeting attendees included integration of tumor immunology and cancer disparities into epidemiologic studies, further collaboration between computational and population-level scientists to gain new insight on exposure-disease associations, and future pooling projects of studies with comparable data.


Assuntos
Epidemiologia , Patologia Molecular , Humanos , Neoplasias/epidemiologia , Neoplasias/genética , Neoplasias/imunologia , Neoplasias/patologia
14.
Int J Lab Hematol ; 41 Suppl 1: 95-101, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31069991

RESUMO

Hereditary hemolytic anemia (HHA) is a group of genetically and phenotypically heterogeneous disorders characterized by premature destruction of red blood cells (RBCs) with clinical manifestations ranging from asymptomatic to marked hemolytic anemia. There are three main categories of HHA: (a) RBC membrane defects; (b) hemoglobinopathies/thalassemias; and (c) RBC enzyme deficiencies. Hyperbilirubinemia is a frequent consequence of hemolytic anemia and can lead to bilirubin-associated neurotoxicity in neonates and to jaundice, and formation of gall stones in adults. Hyperbilirubinemia can also be caused by impaired bilirubin conjugation due to polymorphisms and mutations in genes involved in bilirubin metabolism (eg, UGT1A1). Neonates with HHA and co-inherited variants impairing bilirubin conjugation are at increased risk of bilirubin-associated toxicity. Prior to the advent of next-generation sequencing (NGS), molecular diagnosis of these disorders was limited to targeted single gene Sanger sequencing. However, NGS is making its way into the standard diagnostic workup of complex and multigene disorders like HHA. This review will focus on the molecular updates of HHA with particular focus on the neonatal and pediatric population.


Assuntos
Anemia Hemolítica Congênita , Hiperbilirrubinemia Neonatal , Adulto , Anemia Hemolítica Congênita/sangue , Anemia Hemolítica Congênita/diagnóstico , Anemia Hemolítica Congênita/genética , Membrana Eritrocítica/genética , Membrana Eritrocítica/metabolismo , Feminino , Cálculos Biliares/sangue , Cálculos Biliares/diagnóstico , Cálculos Biliares/genética , Glucuronosiltransferase/genética , Glucuronosiltransferase/metabolismo , Humanos , Hiperbilirrubinemia/sangue , Hiperbilirrubinemia/diagnóstico , Hiperbilirrubinemia/genética , Hiperbilirrubinemia Neonatal/sangue , Hiperbilirrubinemia Neonatal/diagnóstico , Hiperbilirrubinemia Neonatal/genética , Recém-Nascido , Masculino , Mutação , Patologia Molecular
15.
Medicine (Baltimore) ; 98(20): e15402, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31096436

RESUMO

Adenoid cystic carcinoma (ACC) is an uncommon salivary gland malignancy with a poor long-term prognosis. Clinical reports show the high rates of local recurrences and distant metastases. This study aimed to investigate the expression of MIF, Beclin1, and light-chain 3 (LC3) in salivary adenoid cystic carcinoma (SACC).Tissue specimens were obtained from 48 salivary glands adenoid cystic carcinoma (SACC) patients and 15 oral squamous cell carcinoma (OSCC) patients. Immunohistochemical staining was performed to estimate the level of LC3, Beclin1, and MIF. All SACC patients were followed up. The Kaplan-Meier method was used to compare the prognosis of patients after treatment.The 3-year, 5 year-, and 10 year-survival rates of the SACC patients were 83.9%, 69.9%, and 46.6%, respectively. MIF, LC3, and Beclin1 in SACC were all obviously over-expressed. MIF showed an increased tendency in cases with advanced TNM stages, and at the same time, there was an inversely proportional relationship between MIF and LC3, Beclin1.The long-term survival of SACC patients is poor. MIF might be a risk factor for SACC patients, whereas, LC3 and Beclin1 might be an effective strategy for treatment of SACC.


Assuntos
Proteína Beclina-1/metabolismo , Carcinoma Adenoide Cístico/metabolismo , Oxirredutases Intramoleculares/metabolismo , Fatores Inibidores da Migração de Macrófagos/metabolismo , Proteínas Associadas aos Microtúbulos/metabolismo , Patologia Molecular/métodos , Neoplasias das Glândulas Salivares/metabolismo , Adulto , Idoso , Carcinoma Adenoide Cístico/mortalidade , Carcinoma Adenoide Cístico/patologia , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/patologia , Estadiamento de Neoplasias/métodos , Prognóstico , Neoplasias das Glândulas Salivares/mortalidade , Neoplasias das Glândulas Salivares/patologia , Glândulas Salivares/patologia , Taxa de Sobrevida
16.
Cas Lek Cesk ; 158(2): 64-67, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31109165

RESUMO

Cholangiocellular carcinoma is a relatively rare malignant tumor, originating from cholangiocytes, with poor prognosis and late diagnosis. It is a malignancy with a variable biological etiology, numerous genetic and epigenetic changes. Its incidence in the Czech Republic is about 1.4 per 100,000 people per year. For good prognosis and long-term survival, early diagnosis with surgical treatment is important. In these cases, a 5-year survival rate is about 20-40 %. In the early diagnosis imaging methods and histopathological verification play an essential role, whereas laboratory oncomarkers are not yet sufficiently accurate. The same applies for genetic markers. This leads to the search of new molecular targets and the high effort in the introduction of cytological and molecular-biological methods with high specificity and sensitivity into routine practice. Current early diagnosis is based on the use of efficient imaging methods. The use of genetic testing, and especially knowledge of the molecular basis of this disease, will be of a great benefit. The observation of the association between the genetic pathways, IDH1, RAS-MAPK etc., and genetic mutations of genes, such as TP53, KRAS, SMAD4, BRAF, IDH1/2, may be significant. From the molecular point of view, it is also interesting to monitor oncogenic potential in HBV/HCV infection.


Assuntos
Neoplasias dos Ductos Biliares , Ductos Biliares Intra-Hepáticos , Colangiocarcinoma , Neoplasias dos Ductos Biliares/diagnóstico , Neoplasias dos Ductos Biliares/genética , Colangiocarcinoma/diagnóstico , Colangiocarcinoma/genética , República Tcheca , Genes Neoplásicos , Testes Genéticos , Humanos , Mutação , Patologia Molecular
17.
Mikrobiyol Bul ; 53(2): 239-244, 2019 Apr.
Artigo em Turco | MEDLINE | ID: mdl-31130128

RESUMO

Plasmodium falciparum malaria causes about 450.000 deaths every year, mostly in children around the world. The infection is seen in cases coming from abroad and may lead to deaths in Turkey. Many native P.falciparum malaria cases and deaths due to this infection were observed in Turkey during mid 1900's when malaria was epidemic. But only two native cases were reported in the last 50 years, both from Manisa. First case was a one-year old baby who has come to Manisa from Urfa with his family and has never been abroad. He has diagnosed with Plasmodium vivax malaria and treated with chloroquine and primaquine. A previously obtained thin blood film was examined and characteristic P.falciparum rings in red blood cells were observed and the case was published together with photographs as probable P.falciparum and P.vivax mixed infection. After this case, microscopists working in Malaria Control Unit of Manisa were informed about the differentiation of malaria species in thin blood samples. Soon afterward, another case who have never been abroad before were also diagnosed with P.falciparum and P.vivax mixed infection and this case was also published with photographs taken from thin blood samples. As molecular diagnostic methods were not improved and widespread in those years, it could not be applied in both cases. A Giemsa stained thin blood sample of the baby case was incidentally found 22 years afterwards and with the aim of molecular diagnosis, the blood sample on the slide previously processed for DNA isolation, then analysed with "FTD Malaria Differentiation (Fast Track Diagnostics, Luxembourg)" multiplex kit with real-time polymerase chain reaction by using probes special for P.falciparum, P.ovale, P.malariae, P.vivax species. DNA's belonging to P.falciparum and P.vivax were found to be positive, the case is molecularly proved to have P.falciparum and P.vivax mixed infection. This case indicated that Turkey is convenient for the expansion of P.falciparum malaria in terms of the climate and vectors and suggested that the potential danger may increase with the effects of global warming, wars and migrations and may jump to Europe over Turkey. The case which molecularly proved the existence of native P.falciparum malaria in the near future in Turkey, was presented to draw attention to the danger of this infection for Turkey and Europe.


Assuntos
Malária Falciparum , Malária Vivax , Plasmodium falciparum , Plasmodium vivax , Criança , Coinfecção/parasitologia , Europa (Continente) , Humanos , Lactente , Malária Falciparum/diagnóstico , Malária Falciparum/parasitologia , Malária Vivax/diagnóstico , Malária Vivax/parasitologia , Masculino , Patologia Molecular , Plasmodium falciparum/genética , Plasmodium vivax/genética , Turquia
18.
Microb Pathog ; 133: 103555, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31121268

RESUMO

The objective of this study was to experimentally evaluate the pathogenicity of an Actinobacillus seminis isolate named SAAS01 in goats. Animals were challenged with 2 mL of a suspension containing 1,5 × 108 CFU/mL of A. seminis (SAAS01 isolate) through the intrapreputial, epididymis tail, and conjunctival routes. Epididymis and testicular fragments were submitted to histopathological exam, and semen samples underwent microbiological and molecular diagnoses. Clinically, a unilateral increase in firm consistency was observed in the epididymis and testicles of two animals inoculated in epididymis tail and in one animal inoculated through conjunctival sac; this firmness continued until the day of euthanasia. Two goats inoculated through epididymis tail and conjunctival sac routes presented histopathological findings with macroscopically and microscopically significant changes. A. seminis was isolated from semen samples collected from goats inoculated through the epididymis tail and conjunctival sac routes. A. seminis DNA was amplified from six semen samples of three goats inoculated through the epididymis tail, two in conjunctival sac and one through intrapreputial route. The experimental infection model using goats confirmed the pathogenicity of the A. seminis isolate, demonstrating the predilection of the agent for the epididymis, with clinical signs, histopathological lesions, bacterial isolation, and a positive molecular diagnosis.


Assuntos
Infecções por Actinobacillus/microbiologia , Infecções por Actinobacillus/patologia , Actinobacillus seminis/genética , Actinobacillus seminis/patogenicidade , Doenças dos Ovinos/microbiologia , Doenças dos Ovinos/patologia , Infecções por Actinobacillus/diagnóstico , Actinobacillus seminis/isolamento & purificação , Animais , Epididimo/microbiologia , Epididimo/patologia , Cabras , Masculino , Patologia Molecular , Sêmen/microbiologia , Ovinos , Doenças dos Ovinos/diagnóstico , Testículo/patologia
19.
Diagn Pathol ; 14(1): 29, 2019 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-30967140

RESUMO

Insights into the molecular underpinnings of primary central nervous system tumors have radically changed the approach to tumor diagnosis and classification. Diagnostic emphasis has shifted from the morphology of a tumor under the microscope to an integrated approach based on morphologic and molecular features, including gene mutations, chromosomal copy number alterations, and gene rearrangements. In 2016, the World Health Organization provided guidelines for making an integrated diagnosis that incorporates both morphologic and molecular features in a subset of brain tumors. The integrated diagnosis now applies to infiltrating gliomas, a category that includes diffusely infiltrating astrocytoma grades II, III, and IV, and oligodendroglioma, grades II and III, thereby encompassing the most common primary intra-axial central nervous system tumors. Other neoplasms such as medulloblastoma, embryonal tumor with multilayered rosettes, certain supratentorial ependymomas, and atypical teratoid/rhabdoid tumor are also eligible for integrated diagnosis, which can sometimes be aided by characteristic immunohistochemical markers. Since 2016, advances in molecular neuro-oncology have resulted in periodic updates and clarifications to the integrated diagnostic approach. These advances reflect expanding knowledge on the molecular pathology of brain tumors, but raise a challenge in rapidly incorporating new molecular findings into diagnostic practice. This review provides a background on the molecular characteristics of primary brain tumors, emphasizing the molecular basis for classification of infiltrating gliomas, the most common entities that are eligible for an integrated diagnosis. We then discuss entities within the diffuse gliomas that do not receive an integrated diagnosis by WHO 2016 criteria, but have distinctive molecular features that are important to recognize because their clinical behavior can influence clinical management and prognosis. Particular attention is given to the histone H3 G34R/G34V mutant astrocytomas, an entity to consider when faced with an infiltrating glioma in the cerebral hemisphere of children and young adults, and to the group of histologically lower grade diffuse astrocytic gliomas with molecular features of glioblastoma, an important category of tumors to recognize due to their aggressive clinical behavior.


Assuntos
Neoplasias do Sistema Nervoso Central/diagnóstico , Variações do Número de Cópias de DNA , Rearranjo Gênico , Glioma/diagnóstico , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Glioma/genética , Glioma/patologia , Humanos , Mutação , Patologia Molecular , Prognóstico , Organização Mundial da Saúde
20.
Biosens Bioelectron ; 134: 68-75, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30954928

RESUMO

The development of portable nucleic acid diagnostic devices has the potential to expand the availability of molecular diagnostics into low-resource settings. One of the promising solutions for rapid and simple DNA amplification is the use of Rayleigh-Bernard natural convection which is caused by a buoyancy-driven thermal gradient of liquid when heated from below. This natural convection avoids the use of the complex and sophisticated hardware that is required for precise maintenance of temperature cycles in conventional PCR. We have developed a stand-alone convective PCR (cPCR) device linked to a smartphone for rapid detection of nucleic acids using natural convection heating. The device amplifies multiple DNA samples simultaneously using a custom-made heat block controlled by Bluetooth wireless communication. The entire device is highly portable, user-friendly, battery-operated and can provide target DNA amplification in less than 30 min. A detection limit of 2.8 × 103 copies of a segment of lambda DNA was obtained when the two different fluorescently-tagged amplicons were collected magnetically and detected using the smartphone fluorescence reader. Thus, the combination of cPCR and multiplex fluorescence-based detection on a smartphone provides new opportunities for the development of affordable and portable molecular diagnostic devices for point-of-care situations or remote clinical settings.


Assuntos
Técnicas Biossensoriais/instrumentação , DNA/análise , Reação em Cadeia da Polimerase/instrumentação , Smartphone/instrumentação , Técnicas Biossensoriais/economia , Convecção , Desenho de Equipamento , Calefação , Patologia Molecular/economia , Patologia Molecular/instrumentação , Sistemas Automatizados de Assistência Junto ao Leito , Reação em Cadeia da Polimerase/economia , Smartphone/economia , Fatores de Tempo
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