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1.
Cancer Rep (Hoboken) ; 7(6): e2123, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38924697

RESUMO

BACKGROUND: Primary pulmonary meningioma (PPM) is an exceedingly rare neoplasm originating in the meninges within the lung. Despite sharing similarities with its central nervous system (CNS) counterparts, PPM presents unique diagnostic challenges and therapeutic considerations owing to its infrequent occurrence. CASE: This case report describes a 73-year-old male who underwent chest computed tomography (CT), which revealed a mass in the posterior basal segment of the right lower lobe, suggestive of a low-grade malignant tumor approximately 30-40 mm in size. Single-port video-assisted thoracoscopic surgery (VATS) was performed to resect the mass via localized lesion excision (lung wedge resection). Intraoperative frozen section pathology indicated a low-grade malignant epithelial tumor, leading to a decision for maximal lung function preservation, considering the patient's advanced age. The surgical team opted for a localized excision to ensure negative margins. Histopathological analysis confirmed the diagnosis of epithelioid PPM, a rare subtype even among PPM cases (World Health Organization [WHO] Grade I). The patient was discharged 9 days after surgery without complications and resumed normal daily activities 1 month postoperatively. The rarity of PPM precludes a standardized treatment protocol, with surgical resection as the primary approach. However, the efficacy of adjunctive therapies remains uncertain due to limited evidence. CONCLUSION: This case report contributes to a better understanding of PPM and emphasizes the importance of a comprehensive diagnostic evaluation and individualized treatment planning for this rare entity.


Assuntos
Neoplasias Pulmonares , Neoplasias Meníngeas , Meningioma , Humanos , Masculino , Idoso , Meningioma/patologia , Meningioma/cirurgia , Meningioma/diagnóstico , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/diagnóstico , Neoplasias Meníngeas/cirurgia , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/diagnóstico , Cirurgia Torácica Vídeoassistida , Tomografia Computadorizada por Raios X
2.
Animals (Basel) ; 14(12)2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38929436

RESUMO

The current study aimed to provide a precise assessment of the genetic parameters associated with growth and white spot syndrome virus (WSSV) resistance traits in Pacific white shrimp (Litopenaeus vannamei). This was achieved through a controlled WSSV challenge assay and the analysis of phenotypic values of five traits: body weight (BW), overall length (OL), body length (BL), tail length (TL), and survival hour post-infection (HPI). The analysis included test data from a total of 1017 individuals belonging to 20 families, of which 293 individuals underwent whole-genome resequencing, resulting in 18,137,179 high-quality SNP loci being obtained. Three methods, including pedigree-based best linear unbiased prediction (pBLUP), genomic best linear unbiased prediction (GBLUP), and single-step genomic BLUP (ssGBLUP) were utilized. Compared to the pBLUP model, the heritability of growth-related traits obtained from GBLUP and ssGBLUP was lower, whereas the heritability of WSSV resistance was higher. Both the GBLUP and ssGBLUP models significantly enhanced prediction accuracy. Specifically, the GBLUP model improved the prediction accuracy of BW, OL, BL, TL, and HPI by 4.77%, 21.93%, 19.73%, 19.34%, and 63.44%, respectively. Similarly, the ssGBLUP model improved prediction accuracy by 10.07%, 25.44%, 25.72%, 19.34%, and 122.58%, respectively. The WSSV resistance trait demonstrated the most substantial enhancement using both genomic prediction models, followed by body size traits (e.g., OL, BL, and TL), with BW showing the least improvement. Furthermore, the choice of models minimally impacted the assessment of genetic and phenotypic correlations. Genetic correlations among growth traits ranged from 0.767 to 0.999 across models, indicating high levels of positive correlations. Genetic correlations between growth and WSSV resistance traits ranged from (-0.198) to (-0.019), indicating low levels of negative correlations. This study assured significant advantages of the GBLUP and ssGBLUP models over the pBLUP model in the genetic parameter estimation of growth and WSSV resistance in L. vannamei, providing a foundation for further breeding programs.

3.
Biology (Basel) ; 13(4)2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38666830

RESUMO

The Pacific whiteleg shrimp (Penaeus vannamei) is a highly significant species in shrimp aquaculture. In the production of shrimp larvae, noticeable variations in the reproductive capacity among female individuals have been observed. Some females experience slow gonadal development, resulting in the inability to spawn, while others undergo multiple maturations and contribute to the majority of larval supply. Despite numerous studies that have been conducted on the regulatory mechanisms of ovarian development in shrimp, the factors contributing to the differences in reproductive capacity among females remain unclear. To elucidate the underlying mechanisms, this study examined the differences in the ovarian characteristics between high and low reproductive bulks at different maturity stages, focusing on the cellular and molecular levels. Transmission electron microscopy analysis revealed that the abundance of the endoplasmic reticulum, ribosomes, mitochondria, and mitochondrial cristae in oocytes of high reproductive bulk was significantly higher than that of the low reproductive bulk in the early stages of ovarian maturation (stages I and II). As the ovaries progressed to late-stage maturation (stages III and IV), differences in the internal structures of oocytes between females with different reproductive capacities gradually diminished. Transcriptome analysis identified differentially expressed genes (DEGs) related to the mitochondria between two groups, suggesting that energy production processes might play a crucial role in the observed variations in ovary development. The expression levels of the ETS homology factor (EHF) and PRDI-BF1 and RIZ homology domain containing 9 (PRDM9), which were significantly different between the two groups, were compared using qRT-PCR in individuals at different stages of ovarian maturation. The results showed a significantly higher expression of the EHF gene in the ovaries of high reproductive bulk at the II and IV maturity stages compared to the low reproductive bulk, while almost no expression was detected in the eyestalk tissue of the high reproductive bulk. The PRDM9 gene was exclusively expressed in ovarian tissue, with significantly higher expression in the ovaries of the high reproductive bulk at the four maturity stages compared to the low reproductive bulk. Fluorescence in situ hybridization further compared the expression patterns of EHF and PRDM9 in the ovaries of individuals with different fertility levels, with both genes showing stronger positive signals in the high reproductive bulk at the four ovarian stages. These findings not only contribute to our understanding of the regulatory mechanisms involved in shrimp ovarian development, but also provide valuable insights for the cultivation of new varieties aimed at improving shrimp fecundity.

4.
Front Genet ; 13: 929889, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36105098

RESUMO

Penaeus vannamei is the most important economic shrimp in the world. Many selective breeding programs are carried out to improve its production and performance traits. Although significant differences in the reproductive ability of female P. vannamei under artificial breeding conditions have been reported, the genome-wide adaption of the reproductive ability of domesticated female P. vannamei is less investigated. In this study, whole-genome analysis was performed along with pooled DNA sequencing on two fecundity separated bulks, high fecundity bulk (HB), and low fecundity bulk (LB). Each bulk contained 30 individuals from 3 commercial populations. A sequencing depth of >30× was achieved for each bulk, leading to the identification of 625,181 and 629,748 single nucleotide polymorphisms (SNPs) in HB and LB, respectively. Fixation index (Fst) combined with p ratio allowed for the identification of 145 selective sweep regions, with a sequence length of 14.5 Mb, accounting for 0.59% of the genome. Among the 145 selective sweep regions, a total of 64,046 SNPs were identified, and further verification was performed by genotyping 50 candidate SNPs on 60 samples from the offspring of the three populations. Furthermore, 121 genes were screened from the sweep regions. GO annotation and KEGG enrichment analyses showed that partial genes were essential for fecundity regulation. This study provides important information for in-depth investigation of genomic characteristics for long-term selective breeding on the fecundity of female P. vannamei and will also be important for genome-assisted breeding of P. vannamei in the future.

5.
J Cell Mol Med ; 25(21): 10279-10290, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34658138

RESUMO

Tumour-derived DNA found in the plasma of cancer patients provides the probability to detect somatic mutations from circulating cell-free DNA (cfDNA) in plasma samples. However, clonal hematopoiesis (CH) mutations affect the accuracy of liquid biopsy for cancer diagnosis and treatment. Here, we integrated landscape of CH mutations in 11,725 pan-cancer patients of Chinese and explored effects of CH on liquid biopsies in real-world. We first identified 5933 CHs based on panel sequencing of matched DNA of white blood cell and cfDNA on 301 genes for 5100 patients, in which CH number of patients had positive correlation with their diagnosis age. We observed that canonical genes related to CH, including DNMT3A, TET2, ASXL1, TP53, ATM, CHEK2 and SF3B1, were dominant in the Chinese cohort and 13.29% of CH mutations only appeared in the Chinese cohort compared with the Western cohort. Analysis of CH gene distribution bias indicated that CH tended to appear in genes with functions of tyrosine kinase regulation, PI3K-Akt signalling and TP53 activity, suggesting unfavourable effects of CH mutations in cancer patients. We further confirmed effect of driver genes carried by CH on somatic mutations in liquid biopsy of cancer patients. Forty-eight actionable somatic mutations in 17 driver genes were considered CH genes in 92 patients (1.80%) of the Chinese cohort, implying potential impacts of CH on clinical decision-making. Taken together, this study exhibits strong evidence that gene mutations from CH interfere accuracy of liquid biopsies using cfDNA in cancer diagnosis and treatment in real-world.


Assuntos
Biomarcadores Tumorais , Ácidos Nucleicos Livres , Hematopoiese Clonal/genética , Biópsia Líquida , Mutação , China/epidemiologia , Estudos de Coortes , Biologia Computacional/métodos , Biblioteca Gênica , Ontologia Genética , Mutação em Linhagem Germinativa , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Biópsia Líquida/métodos , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Neoplasias/genética
6.
Sci Rep ; 10(1): 21820, 2020 12 11.
Artigo em Inglês | MEDLINE | ID: mdl-33311524

RESUMO

Segregation distortion is a common phenomenon found in most genetic mapping studies and is an important resource to dissect the mechanism of action in gene loci that cause deviation. Marine animals possess high genetic diversity and genomic heterozygosity, they therefore are ideal model organisms to study segregation distortion induced by selection. In the present study, we constructed a full-sib family of Fenneropenaeus chinensis and exerted high-intensity selection on 10,000 incipient progenies. 2b-RAD method was employed in remaining 273 individuals to develop genome-wide SNPs for segregating analysis and 41,612 SNPs were developed. 50.77% of 32,229 high-quality representative markers deviated from the expected Mendelian ratio. Results showed that most of these distorted markers (91.57%) were influenced at zygotic level. Heterozygote excess (53.07%) and homozygous deletions (41.96%) may both play an important role, sum of which explained 95.03% of distortion after fertilization. However, further results identified highly probable linkage among deleterious alleles, which may account for a considerable portion of heterozygote excess rather than single locus with heterozygote advantage. Results of this study support a major role of deleterious alleles in genetic load, thus in favor of partial dominance hypothesis. It would also offer necessary recommendations for the formulation of breeding strategy in shrimps.


Assuntos
Carga Genética , Repetições de Microssatélites , Penaeidae/genética , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Seleção Genética , Animais
7.
Ann Transl Med ; 8(7): 450, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32395494

RESUMO

BACKGROUND: To evaluate the diagnostic efficacy of Densely Connected Convolutional Networks (DenseNet) for detection of COVID-19 features on high resolution computed tomography (HRCT). METHODS: The Ethic Committee of our institution approved the protocol of this study and waived the requirement for patient informed consent. Two hundreds and ninety-five patients were enrolled in this study (healthy person: 149; COVID-19 patients: 146), which were divided into three separate non-overlapping cohorts (training set, n=135, healthy person, n=69, patients, n=66; validation set, n=20, healthy person, n=10, patients, n=10; test set, n=140, healthy person, n=70, patients, n=70). The DenseNet was trained and tested to classify the images as having manifestation of COVID-19 or as healthy. A radiologist also blindly evaluated all the test images and rechecked the misdiagnosed cases by DenseNet. Receiver operating characteristic curves (ROC) and areas under the curve (AUCs) were used to assess the model performance. The sensitivity, specificity and accuracy of DenseNet model and radiologist were also calculated. RESULTS: The DenseNet algorithm model yielded an AUC of 0.99 (95% CI: 0.958-1.0) in the validation set and 0.98 (95% CI: 0.972-0.995) in the test set. The threshold value was selected as 0.8, while for validation and test sets, the accuracies were 95% and 92%, the sensitivities were 100% and 97%, the specificities were 90% and 87%, and the F1 values were 95% and 93%, respectively. The sensitivity of radiologist was 94%, the specificity was 96%, while the accuracy was 95%. CONCLUSIONS: Deep learning (DL) with DenseNet can accurately classify COVID-19 on HRCT with an AUC of 0.98, which can reduce the miss diagnosis rate (combined with radiologists' evaluation) and radiologists' workload.

8.
PLoS One ; 14(4): e0211182, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30958828

RESUMO

In order to screen the candidate genes of Fenneropenaeus chinensis related to low-temperature tolerance, this research takes juvenile prawns of F. chinensis (P40) in low temperature stress group (4°C) and normal temperature group (18°C) as experimental materials. The results showed that a total of 127,939 Unigenes with average length of 1,190 bp were obtained by assembly, of which 46% were annotated in the Nr database. A total of 1,698 differentially expressed genes were screened by differential gene expression analysis, of which 920 genes showed up-regulated expression and 778 genes showed down-regulated expression. Both GO and KEGG enrichment analysis revealed that differentially expressed genes were enriched in spliceosomes, ribosomes, bile secretion, ABC transport pathways, and cellular nitrogen compound synthesis. A further in-depth analysis obtained 8 genes that may be associated with low-temperature traits of F. chinensis. Five of them displayed up-regulated expression, including ATP-binding cassette protein C, acid ceramidase, glutathione transferase, C-type lectin and heat shock protein HSP70. The remaining three genes, γ-butyl betaine hydroxylase, ß-hexosaminidase A and long chain fatty acid-CoA ligase displayed down-regulated expression. Eight differentially expressed genes were randomly selected and the real time RT-PCR verification showed that their expression levels were consistent with the sequencing results, demonstrating the accuracy of the sequencing results. The results of this study provide basic data for revealing the molecular mechanisms of F. chinensis in response to low temperature stress and the molecular assisted breeding of F. chinensis in low temperature.


Assuntos
Aclimatação/genética , Aquicultura/métodos , Temperatura Baixa/efeitos adversos , Penaeidae/fisiologia , Animais , China , Perfilação da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Redes e Vias Metabólicas/genética , Alimentos Marinhos , Seleção Artificial , Transcriptoma/genética , Sequenciamento do Exoma
9.
Fish Shellfish Immunol ; 75: 132-138, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29407618

RESUMO

White spot syndrome (WSS) is one of the most damaging phenomena in the culturing of shrimp. To characterize the mechanisms of the molecular responses to WSSV infection in 'Huanghai No. 2'' Fenneropenaeus chinensis, we used next-generation sequencing to observe the transcriptome after oral infection. A total of 108.6 million clean reads were obtained and assembled into 64,103 final unigenes with an average length of 845 bp (N50 = 1534 bp). The assembled unigenes contained 14,263 significant unigenes after BLASTX against the Nr database (E-value cut-off of 10-5). After comparison of digital gene expression data between challenged and control shrimp, a total of 896 DEGs after WSSV infection were identified. Gene pathway analysis indicated that 92, 131 and 142 metabolic pathways were affected at early, peak and late phases respectively. Some pathways were related to the immune response, such as the phagosome, complement and coagulation cascades, the antigen processing and presentation pathway and so on. Many immune-related genes were also identified after pathway analysis. Interestingly, some growth-related genes, such as cathepsin L, myosin regulatory light chain 2 smooth muscle, and alpha-amylase were also differentially expressed after WSSV infection, and the correlation between growth trait and WSSV-resistance trait need further research. The expression patterns of eight DEGs were confirmed by quantitative real-time reverse transcription polymerase chain reaction, and there was good agreement between RNA-seq and qRT-PCR. These data will provide valuable information for characterizing the immune mechanism of the response of shrimp's to WSSV.


Assuntos
Proteínas de Artrópodes/genética , Proteínas de Artrópodes/imunologia , Penaeidae/genética , Penaeidae/imunologia , Transcriptoma/imunologia , Vírus da Síndrome da Mancha Branca 1/fisiologia , Animais , Perfilação da Expressão Gênica , Análise de Sequência de RNA
10.
PLoS One ; 12(8): e0183801, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28850577

RESUMO

In this study, genetic parameters were obtained for growth and cold tolerance of 99 Fenneropenaeus chinensis juvenile families by means of indoor artificial cooling (starting from 14°C, 2°C/d). A linear mixed model was fitted to estimate variance components using the ASReml software package. Heritabilities estimated for body weight (BW) and body length (BL) of F. chinensis juveniles were 0.078 ± 0.124 and 0.131 ± 0.133, respectively. The estimates of heritability were low in magnitude for both traits. The differences between the heritabilities estimated for the two growth traits were not significant with each other, and the heritabilities were not significantly different from zero (P > 0.05). The phenotypic and genetic correlation coefficients between BW and BL were as high as 0.9408 ± 0.0040 and 0.9562 ± 0.0551, respectively, and both were significantly different from zero (P < 0.01). The heritabilities of temperature at death (TAD) and cooling degree hours (CDH) were 0.265 ± 0.091 and 0.077 ± 0.058, respectively. The heritability estimates for TAD was moderate and significantly different from zero (P < 0.01). The correlation analysis indicated that the phenotypic correlation coefficient between TAD and CDH was -0.5470 ± 0.0174, and the genetic correlation coefficient was -0.6707 ± 0.3635. In the analysis of growth traits and cold tolerance traits, the values of phenotypic correlation coefficient were floating between -0.1055 and 0.1098, both were significantly different from zero (P < 0.05), while the genetic correlation had a larger range (0.0526 ~ 0.9914), and all were not significantly different from zero (P > 0.05). In this study, there was a low correlation between growth and cold tolerance traits, indicating that growth traits and cold tolerance traits should be considered collectively in the breeding program of shrimp.


Assuntos
Peso Corporal/genética , Temperatura Baixa , Penaeidae/genética , Fenótipo , Estresse Fisiológico/fisiologia , Animais , Feminino , Masculino , Penaeidae/crescimento & desenvolvimento
11.
Fish Shellfish Immunol ; 58: 210-219, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27591045

RESUMO

White spot syndrome virus (WSSV) infects all shrimp species and is the greatest detriment to shrimp culture. To better understand the mechanism of molecular responses to WSSV infection in "Huanghai No. 2" Fenneropenaeus chinensis, a microarray technique was used. Microarray gene expression profiling of 59,137 unigenes identified Differentially Expressed Genes (DEGs) both in live and moribund shrimp at early, peak and late phases. In live shrimp, 1307, 1479 and 1539 DEGs were obtained in the early, peak and late phase, respectively. Meanwhile, 1536, 2181 and 1591 DEGs were obtained in moribund shrimp. Twenty known annotation genes are uniquely expressed in the late phase of live shrimp, including adhesion regulating molecule 1, arginine kinase, BUD31 homolog, and QM. Compared to WSSV-susceptible shrimp, 75 known annotation genes are uniquely expressed in WSSV-resistant shrimp, including arginine kinase, BUD31 homolog, clottable protein 2, caspase 2, cathepsin C, calnexin, HMGBb, Histone 3, and selenoprotein M. The gene expression patterns of the infected shrimp were altered by WSSV infection. To further confirm the expression of differentially expressed genes, real-time RT-PCR was performed to test six randomly selected genes. The data will provide valuable information to understand the immune mechanism of shrimp's response to WSSV.


Assuntos
Proteínas de Artrópodes/genética , Análise de Sequência com Séries de Oligonucleotídeos , Penaeidae/genética , Vírus da Síndrome da Mancha Branca 1/fisiologia , Animais , Proteínas de Artrópodes/metabolismo , Regulação da Expressão Gênica/imunologia , Hepatopâncreas/imunologia , Penaeidae/imunologia , Penaeidae/virologia , Reação em Cadeia da Polimerase , Transcriptoma
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