scholarly journals A Study of Mutations in the c-kit Gene of 32 Dogs with Mastocytoma

2005 ◽  
Vol 17 (4) ◽  
pp. 385-388 ◽  
Author(s):  
Federica Riva ◽  
Stefano Brizzola ◽  
Damiano Stefanello ◽  
Simone Crema ◽  
Lauretta Turin

Mutations in the intracellular juxtamembrane domain of the c-kit gene in 32 dogs with different grades of histologically confirmed mastocytoma were studied. Transcript RNAs extracted from neoplastic tissue surgically collected from dogs of different breeds and from a negative control were reverse transcribed into complementary DNA and amplified by polymerase chain reaction. The region corresponding to the c-kit juxtamembrane domain was sequenced and compared with GenBank sequences. Two different types of mutations were identified within exon 11: a previously underscribed single-nucleotide substitution and a 6-bp deletion. The c-kit juxtamembrane domain sequences of all dogs were grouped in 3 clusters. No mutations were detected in tissues constitutively expressing c-kit (cerebellum and spleen), obtained from dogs not affected by mastocytoma (controls). All the substitutions were found in dogs bearing grade I or II mast cell tumors; the deletion was detected in 1 dog with grade II mastocytoma.

2002 ◽  
Vol 39 (5) ◽  
pp. 529-535 ◽  
Author(s):  
D. Zemke ◽  
B. Yamini ◽  
V. Yuzbasiyan-Gurkan

Mast cell tumors are among the most commonly seen tumors of the skin in dogs and are more highly aggressive than mast cell tumors of other species. Some breeds display a markedly higher incidence of mast cell tumor development than others and appear to have some genetic predisposition. Recently, mutations have been found in canine mast cell tumor tissues and cell lines within the juxtamembrane domain of the protooncogene c- KIT. In previous studies utilizing a small number of cases, no association between the presence of a mutation and the breed of dog or grade of the tumor could be identified. An expanded study with a larger sample set was performed to explore this possibility. The juxtamembrane domain of c- KIT was amplified using the polymerase chain reaction from genomic DNA preparations of 88 paraffin-embedded mast cell tumors from selected breeds. Mutations, consisting of duplications and deletions, were found in 12 of the tumors. A significant association was found between the presence of a mutation and a higher grade of tumor but not between breed and grade or between breed and the presence of a mutation.


AI ◽  
2021 ◽  
Vol 2 (2) ◽  
pp. 261-273
Author(s):  
Mario Manzo ◽  
Simone Pellino

COVID-19 has been a great challenge for humanity since the year 2020. The whole world has made a huge effort to find an effective vaccine in order to save those not yet infected. The alternative solution is early diagnosis, carried out through real-time polymerase chain reaction (RT-PCR) tests or thorax Computer Tomography (CT) scan images. Deep learning algorithms, specifically convolutional neural networks, represent a methodology for image analysis. They optimize the classification design task, which is essential for an automatic approach with different types of images, including medical. In this paper, we adopt a pretrained deep convolutional neural network architecture in order to diagnose COVID-19 disease from CT images. Our idea is inspired by what the whole of humanity is achieving, as the set of multiple contributions is better than any single one for the fight against the pandemic. First, we adapt, and subsequently retrain for our assumption, some neural architectures that have been adopted in other application domains. Secondly, we combine the knowledge extracted from images by the neural architectures in an ensemble classification context. Our experimental phase is performed on a CT image dataset, and the results obtained show the effectiveness of the proposed approach with respect to the state-of-the-art competitors.


2020 ◽  
Vol 48 (12) ◽  
pp. 030006052096777
Author(s):  
Peisong Chen ◽  
Xuegao Yu ◽  
Hao Huang ◽  
Wentao Zeng ◽  
Xiaohong He ◽  
...  

Introduction To evaluate a next-generation sequencing (NGS) workflow in the screening and diagnosis of thalassemia. Methods In this prospective study, blood samples were obtained from people undergoing genetic screening for thalassemia at our centre in Guangzhou, China. Genomic DNA was polymerase chain reaction (PCR)-amplified and sequenced using the Ion Torrent system and results compared with traditional genetic analyses. Results Of the 359 subjects, 148 (41%) were confirmed to have thalassemia. Variant detection identified 35 different types including the most common. Identification of the mutational sites by NGS were consistent with those identified by Sanger sequencing and Gap-PCR. The sensitivity and specificities of the Ion Torrent NGS were 100%. In a separate test of 16 samples, results were consistent when repeated ten times. Conclusion Our NGS workflow based on the Ion Torrent sequencer was successful in the detection of large deletions and non-deletional defects in thalassemia with high accuracy and repeatability.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mazni Abu Zarin ◽  
Joo Shun Tan ◽  
Paramasivam Murugan ◽  
Rosma Ahmad

Abstract Background The banana or scientifically referred to as Musa sp., is one of the most popular fruits all over the world. Almost all parts of a banana tree, including the fruits, stem juice, and flowers are commonly used as traditional medicine for treating diarrhoea (unripe), menorrhagia, diabetes, dysentery, and antiulcerogenic, hypoglycemic, antilithic, hypolipidemic conditions, plus antioxidant actions, inflammation, pains and even snakebites. The study carried out was to evaluate in vitro anti-urolithiatic activity from different types of Musa pseudo-stems. Methods Observing anti-urolithiathic activity via in vitro nucleation and aggregation assay using a spectrophotometer followed by microscopic observation. A total of 12 methanolic extracts were tested to determine the potential extracts in anti-urolithiasis activities. Cystone was used as a positive control. Results The results manifested an inhibition of nucleation activity (0.11 ± 2.32% to 55.39 ± 1.01%) and an aggregation activity (4.34 ± 0.68% to 58.78 ± 1.81%) at 360 min of incubation time. The highest inhibition percentage in nucleation assay was obtained by the Musa acuminate x balbiciana Colla cv “Awak Legor” methanolic pseudo-stem extract (2D) which was 55.39 ± 1.01%at 60 min of incubation time compared to the cystone at 30.87 ± 0.74%. On the other hand,the Musa acuminate x balbiciana Colla cv “Awak Legor” methanolic bagasse extract (3D) had the highest inhibition percentage in the aggregation assay incubated at 360 min which was obtained at 58.78 ± 1.8%; 5.53% higher than the cystone (53.25%).The microscopic image showed a great reduction in the calcium oxalate (CaOx) crystals formation and the size of crystals in 2D and 3D extracts, respectively, as compared to negative control. Conclusions The results obtained from this study suggest that the extracts are potential sources of alternative medicine for kidney stones disease.


2007 ◽  
Vol 18 (3) ◽  
pp. 185-191 ◽  
Author(s):  
Rodrigo Alex Arthur ◽  
Cínthia Pereira Machado Tabchoury ◽  
Renata de Oliveira Mattos-Graner ◽  
Altair A. Del Bel Cury ◽  
Adriana Franco Paes Leme ◽  
...  

In situ dental biofilm composition under sugar exposure is well known, but sugar effect on the genotypic diversity of S. mutans in dental biofilm has not been explored. This study evaluated S. mutans genotypic diversity in dental biofilm formed in situ under frequent exposure to sucrose and its monosaccharide constituents (glucose and fructose). Saliva of 7 volunteers was collected for isolation of S. mutans and the same volunteers wore intraoral palatal appliances, containing enamel slabs, which were submitted to the following treatments: distilled and deionized water (negative control), 10% glucose + 10% fructose (fermentable carbohydrates) solution or 20% sucrose (fermentable and EPS inductor) solution, 8x/day. After 3, 7 and 14 days, the biofilms were colleted and S. mutans colonies were isolated. Arbitrarily primed polymerase chain reaction (AP-PCR) of S. mutans showed that salivary genotypes were also detected in almost all biofilm samples, independently of the treatment, and seemed to reflect those genotypes present at higher proportion in biofilms. In addition to the salivary genotypes, others were found in biofilms but in lower proportions and were distinct among treatment. The data suggest that the in situ model seems to be useful to evaluate genotypic diversity of S. mutans, but, under the tested conditions, it was not possible to clearly show that specific genotypes were selected in the biofilm due to the stress induced by sucrose metabolism or simple fermentation of its monosaccharides.


2016 ◽  
Vol 46 (10) ◽  
pp. 1804-1810 ◽  
Author(s):  
Mariana Martins Flores ◽  
Renata Dalcol Mazaro ◽  
Ingeborg Maria Langohr ◽  
Alma Roy ◽  
Keith Strother ◽  
...  

ABSTRACT: The use of histologic classification by a 2-tier grading system only, immunohistochemistry (IHC) for KIT and Ki-67 and polymerase chain reaction (PCR) for internal tandem duplications (ITD) on exon 11 has improved the prognostication of canine cutaneous mast cell tumors (CCMTs) particularly in the United States. However, these techniques are not commonly used in most Brazilian laboratories. Likewise, no studies, to date, have investigated the occurrence of ITD in CCMTs from the country. Thus, this study tested the 2-tier grading system, the immunohistochemistry for KIT and Ki-67 and the PCR for exon 11 in a group of Brazilian CCMTs with the goal of investigating the applicability of these tests in a Brazilian laboratory. Of the 39 CCMTs, 69.2% (27/39) were identified as low-grade and 30.8% (12/39) as high-grade by a 2-tier grading system. All tumors had a KIT expression pattern II, and 30.6% (11/36) had a high growth fraction (Ki-67). PCR amplification was successful in four of the 11 tumors examined. Two of these (50%) were positive for ITD. This study highlights the importance of using auxiliary techniques in the CCMT evaluation, identifies limitations and confirms the applicability of these methods on a routine diagnostic basis in Brazil. Our results will help to improve the prognostication of CCMTs in Brazilian diagnostic laboratories, encouraging the use of supplementary methods.


2018 ◽  
Vol 73 (9-10) ◽  
pp. 375-389 ◽  
Author(s):  
Libao Cheng ◽  
Huiying Liu ◽  
Runzhi Jiang ◽  
Shuyan Li

AbstractThe formation of adventitious roots (ARs) is an important process for lotus (Nelumbo nucifera), which does not have a well-formed main root. In lotus, the removal of leaves above the waterline significantly promoted AR formation, while the removal of leaves below the waterline inhibited AR formation. Proteins were identified using isobaric tags for relative and absolute quantization technique. The number of proteins decreased with increasing sequencing coverage, and most of the identified proteins had fewer than 10 peptides. In the A1/A0 and A2/A1 stages, 661 and 154 proteins showed increased abundance, respectively, and 498 and 111 proteins showed decreased abundance, respectively. In the B1/B0 and B2/B1 stages, 498 and 436 proteins showed increased abundance, respectively, and 358 and 348 proteins showed decreased abundance, respectively. Among the proteins showing large differences in abundance, 17 were identified as being related to AR formation. Proteins involved in the glycolytic pathway and the citrate cycle showed differences in abundance between the two types of leaf removal. The transcriptional levels of nine genes encoding relevant proteins were assessed by quantitative polymerase chain reaction. The results of this study illustrate the changes in metabolism after different types of leaf removal during AR formation in lotus.


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