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3.
Dermatologie (Heidelb) ; 74(10): 787-792, 2023 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-37407876

RESUMO

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy that derives from precursors of plasmacytoid dendritic cells and is characterized by disseminated, erythematous or bluish-livid plaques or nodi. Because of the disease's rarity the diagnosis and treatment still pose a significant challenge. We present a case of a patient with BPDCN and show clinical and diagnostic characteristics as well as potential treatment regimes.


Assuntos
Neoplasias Hematológicas , Neoplasias Cutâneas , Humanos , Neoplasias Hematológicas/complicações , Neoplasias Cutâneas/diagnóstico , Células Dendríticas/patologia , Doença Aguda , Palidez/complicações
4.
J Bioinform Comput Biol ; 19(6): 2140016, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34923926

RESUMO

In this paper, we investigate througth a premilinary study the influence of repeat elements during the assembly process. We analyze the link between the presence and the nature of one type of repeat element, called transposable element (TE) and misassembly events in genome assemblies. We propose to improve assemblies by taking into account the presence of repeat elements, including TEs, during the scaffolding step. We analyze the results and relate the misassemblies to TEs before and after correction.


Assuntos
Elementos de DNA Transponíveis
5.
BMC Bioinformatics ; 22(Suppl 6): 396, 2021 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-34362304

RESUMO

BACKGROUND: Meiotic recombination is a vital biological process playing an essential role in genome's structural and functional dynamics. Genomes exhibit highly various recombination profiles along chromosomes associated with several chromatin states. However, eu-heterochromatin boundaries are not available nor easily provided for non-model organisms, especially for newly sequenced ones. Hence, we miss accurate local recombination rates necessary to address evolutionary questions. RESULTS: Here, we propose an automated computational tool, based on the Marey maps method, allowing to identify heterochromatin boundaries along chromosomes and estimating local recombination rates. Our method, called BREC (heterochromatin Boundaries and RECombination rate estimates) is non-genome-specific, running even on non-model genomes as long as genetic and physical maps are available. BREC is based on pure statistics and is data-driven, implying that good input data quality remains a strong requirement. Therefore, a data pre-processing module (data quality control and cleaning) is provided. Experiments show that BREC handles different markers' density and distribution issues. CONCLUSIONS: BREC's heterochromatin boundaries have been validated with cytological equivalents experimentally generated on the fruit fly Drosophila melanogaster genome, for which BREC returns congruent corresponding values. Also, BREC's recombination rates have been compared with previously reported estimates. Based on the promising results, we believe our tool has the potential to help bring data science into the service of genome biology and evolution. We introduce BREC within an R-package and a Shiny web-based user-friendly application yielding a fast, easy-to-use, and broadly accessible resource. The BREC R-package is available at the GitHub repository https://github.com/GenomeStructureOrganization .


Assuntos
Heterocromatina , Aplicativos Móveis , Animais , Mapeamento Cromossômico , Drosophila melanogaster/genética , Heterocromatina/genética , Recombinação Genética
6.
Saudi J Biol Sci ; 28(1): 217-223, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33424300

RESUMO

This study illustrated the immunohistochemical distribution of androgen and vitamin D receptors of epididymis in 20 sexually mature ram (Rahmani breed) with average age ranged from (2_4) years and average weight ranged from (50_65kg). Androgen receptor was localized in the cytoplasm of both ciliated and non ciliated cells of efferent ductules, besides the principal cells via the entire epididymal duct. The principal cells of both corpus and proximal cauda epididymis showed the highest immunoreactivity to androgen receptors. Furthermore, vitamin D receptor was localized in the cytoplasm of all epithelium of the efferent ductules besides principal cells of all epididymal regions, however the immunoreaction was significantly higher in the efferent ductules, distal caput and distal cauda epididymis. In conclusion, these results suggest that the function of ram epididymis is regulated by both androgen and Vitamin D.

7.
J Am Podiatr Med Assoc ; 110(3)2020 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-32730601

RESUMO

BACKGROUND: Onychomycosis is the most common infectious nail disorder. Direct mycologic examination is still the cornerstone of diagnosis; however, it may take several weeks to obtain a result. Recently some dermoscopic patterns that can be useful in the diagnosis of onychomycosis were described. However, published data on dermoscopic features of onychomycosis are still limited. METHODS: We performed a prospective dermoscopic study of patients with positive fungal culture between April and December 2016. Patients with a final diagnosis of psoriasis or lichen planus were excluded from the study. Dermoscopy (polarized and nonpolarized) was performed. RESULTS: Thirty-seven patients were enrolled, 24 women and 13 men (median ± SD age, 48.6 ± 16.1 years). Nail samples were culture positive for Trichophyton rubrum (89.2%), Trichophyton interdigitale (8.1%), and Candida albicans (2.7%). Distal and lateral subungual onychomycosis was the most frequent clinical subtype (59.5%). The most frequent dermoscopic features were subungual keratosis (73.0%), distal subungual longitudinal striae (70.3%), spikes of the proximal margin of an onycholytic area (59.5%), transverse superficial leukonychia (29.7%), and linear hemorrhage (13.5%). Brown chromonychia was most frequently seen with nonpolarized dermoscopy (66.6% versus 24%; P = .027). CONCLUSIONS: Specific dermoscopic signs of onychomycosis are mostly related to the proximal invasion of the nail plate. Detection of these signs is simple and can, in some cases, help avoid mycologic testing.


Assuntos
Dermatoses do Pé , Onicomicose , Arthrodermataceae , Feminino , Dermatoses do Pé/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Unhas , Onicomicose/diagnóstico por imagem , Estudos Prospectivos
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