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1.
SAGE Open Med Case Rep ; 12: 2050313X241249614, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38715898

RESUMEN

Superior mesenteric artery syndrome is a rare condition that causes duodenal obstruction due to compression by the superior mesenteric artery and the aorta. It can be related to congenital or acquired factors that reduce the aortomesenteric angle and distance. The clinical presentation is nonspecific and often mimics other causes of upper gastrointestinal obstruction. The diagnosis requires a high index of suspicion and a correlation of clinical symptoms with radiographic findings. We report a case of a 17-year-old female patient who presented with chronic abdominal pain, vomiting, and weight loss. She was diagnosed with superior mesenteric artery syndrome based on an abdominal computed tomography scan that showed a reduced aortomesenteric angle of 30° and a reduced aortomesenteric distance of 7 mm. She was treated conservatively with anticoagulation therapy, dietary modification, and physical activity. She reported symptom improvement and weight gain after 2 weeks of treatment. This case illustrates the challenges and pitfalls in diagnosing superior mesenteric artery syndrome.

3.
PLoS One ; 18(9): e0291204, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37729135

RESUMEN

Multiple sequence alignment (MSA) is essential for understanding genetic variations controlling phenotypic traits in all living organisms. The post-analysis of MSA results is a difficult step for researchers who do not have programming skills. Especially those working with large scale data and looking for potential variations or variable sample groups. Generating bi-allelic data and the comparison of wild and alternative gene forms are important steps in population genetics. Customising MSA visualisation for a single page view is difficult, making viewing potential indels and variations challenging. There are currently no bioinformatics tools that permit post-MSA analysis, in which data on gene and single nucleotide scales could be combined with gene annotations and used for cluster analysis. We introduce "AlignStatPlot," a new R package and online tool that is well-documented and easy-to use for MSA and post-MSA analysis. This tool performs both traditional and cutting-edge analyses on sequencing data and generates new visualisation methods for MSA results. When compared to currently available tools, AlignStatPlot provides a robust ability to handle and visualise diversity data, while the online version will save time and encourage researchers to focus on explaining their findings. It is a simple tool that can be used in conjunction with population genetics software.


Asunto(s)
Macrodatos , Biología Computacional , Alineación de Secuencia , Alelos , Análisis por Conglomerados
4.
Front Genet ; 14: 1187597, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37408775

RESUMEN

Grass pea is a promising crop with the potential to provide food and fodder, but its genomics has not been adequately explored. Identifying genes for desirable traits, such as drought tolerance and disease resistance, is critical for improving the plant. Grass pea currently lacks known R-genes, including the nucleotide-binding site-leucine-rich repeat (NBS-LRR) gene family, which plays a key role in protecting the plant from biotic and abiotic stresses. In our study, we used the recently published grass pea genome and available transcriptomic data to identify 274 NBS-LRR genes. The evolutionary relationships between the classified genes on the reported plants and LsNBS revealed that 124 genes have TNL domains, while 150 genes have CNL domains. All genes contained exons, ranging from 1 to 7. Ten conserved motifs with lengths ranging from 16 to 30 amino acids were identified. We found TIR-domain-containing genes in 132 LsNBSs, with 63 TIR-1 and 69 TIR-2, and RX-CCLike in 84 LsNBSs. We also identified several popular motifs, including P-loop, Uup, kinase-GTPase, ABC, ChvD, CDC6, Rnase_H, Smc, CDC48, and SpoVK. According to the gene enrichment analysis, the identified genes undergo several biological processes such as plant defense, innate immunity, hydrolase activity, and DNA binding. In the upstream regions, 103 transcription factors were identified that govern the transcription of nearby genes affecting the plant excretion of salicylic acid, methyl jasmonate, ethylene, and abscisic acid. According to RNA-Seq expression analysis, 85% of the encoded genes have high expression levels. Nine LsNBS genes were selected for qPCR under salt stress conditions. The majority of the genes showed upregulation at 50 and 200 µM NaCl. However, LsNBS-D18, LsNBS-D204, and LsNBS-D180 showed reduced or drastic downregulation compared to their respective expression levels, providing further insights into the potential functions of LsNBSs under salt stress conditions. They provide valuable insights into the potential functions of LsNBSs under salt stress conditions. Our findings also shed light on the evolution and classification of NBS-LRR genes in legumes, highlighting the potential of grass pea. Further research could focus on the functional analysis of these genes, and their potential use in breeding programs to improve the salinity, drought, and disease resistance of this important crop.

5.
Front Genet ; 14: 1128992, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37021003

RESUMEN

Background: The basic helix-loop-helix (bHLH) transcription factor is a vital component in plant biology, with a significant impact on various aspects of plant growth, cell development, and physiological processes. Grass pea is a vital agricultural crop that plays a crucial role in food security. However, the lack of genomic information presents a major challenge to its improvement and development. This highlights the urgency for deeper investigation into the function of bHLH genes in grass pea to improve our understanding of this important crop. Results: The identification of bHLH genes in grass pea was performed on a genome-wide scale using genomic and transcriptomic screening. A total of 122 genes were identified as having conserved bHLH domains and were functionally and fully annotated. The LsbHLH proteins could be classified into 18 subfamilies. There were variations in intron-exon distribution, with some genes lacking introns. The cis-element and gene enrichment analyses showed that the LsbHLHs were involved in various plant functions, including response to phytohormones, flower and fruit development, and anthocyanin synthesis. A total of 28 LsbHLHs were found to have cis-elements associated with light response and endosperm expression biosynthesis. Ten conserved motifs were identified across the LsbHLH proteins. The protein-protein interaction analysis showed that all LsbHLH proteins interacted with each other, and nine of them displayed high levels of interaction. RNA-seq analysis of four Sequence Read Archive (SRA) experiments showed high expression levels of LsbHLHs across a range of environmental conditions. Seven highly expressed genes were selected for qPCR validation, and their expression patterns in response to salt stress showed that LsbHLHD4, LsbHLHD5, LsbHLHR6, LsbHLHD8, LsbHLHR14, LsbHLHR68, and LsbHLHR86 were all expressed in response to salt stress. Conclusion: The study provides an overview of the bHLH family in the grass pea genome and sheds light on the molecular mechanisms underlying the growth and evolution of this crop. The report covers the diversity in gene structure, expression patterns, and potential roles in regulating plant growth and response to environmental stress factors in grass pea. The identified candidate LsbHLHs could be utilized as a tool to enhance the resilience and adaptation of grass pea to environmental stress.

6.
Front Genet ; 14: 1292009, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38327700

RESUMEN

Introduction: Chickpea is a legume crop that thrives in regions with semi-arid or temperate climates. Its seeds are an excellent source of proteins, carbohydrates, and minerals, especially high-quality proteins. Chickpea cultivation faces several challenges including Fusarium wilt (FW), a major fungal disease that significantly reduces productivity. Methods: In this study, a Genome-wide Association Analysis (GWAS) was conducted to identify multiple genomic loci associated with FW resistance in chickpea. We conducted a comprehensive evaluation of 180 chickpea genotypes for FW resistance across three distinct locations (Ethiopia, Tunisia, and Lebanon) during the 2-year span from 2015 to 2016. Disease infection measurements were recorded, and the wilt incidence of each genotype was calculated. We employed a set of 11,979 single nucleotide polymorphisms (SNPs) markers distributed across the entire chickpea genome for SNP genotyping. Population structure analysis was conducted to determine the genetic structure of the genotypes. Results and Discussion: The population structure unveiled that the analyzed chickpea germplasm could be categorized into four sub-populations. Notably, these sub-populations displayed diverse geographic origins. The GWAS identified 11 SNPs associated with FW resistance, dispersed across the genome. Certain SNPs were consistent across trials, while others were specific to particular environments. Chromosome CA2 harbored five SNP markers, CA5 featured two, and CA4, CA6, CA7, and CA8 each had one representative marker. Four SNPs demonstrated an association with FW resistance, consistently observed across a minimum of three distinct environments. These SNPs included SNP5826041, SNP5825086, SNP11063413, SNP5825195, which located in CaFeSOD, CaS13like, CaNTAQ1, and CaAARS genes, respectively. Further investigations were conducted to gain insights into the functions of these genes and their role in FW resistance. This progress holds promise for reducing the negative impact of the disease on chickpea production.

7.
JBJS Case Connect ; 11(2)2021 04 02.
Artículo en Inglés | MEDLINE | ID: mdl-33798119

RESUMEN

CASE: A 25-year-old man presented with progressive pain and swelling of the left foot for 4 years. The images showed a contrast-enhanced mixed lesion (osteolytic and blastic) of the first metatarsal bone with surrounding soft-tissue edema. The differential diagnoses favored chronic osteomyelitis or neoplasia, most likely benign. Histopathology confirmed the diagnosis of osteoblastoma as immature bone trabeculae rimmed by osteoblasts appeared. Then, the patient was successfully treated with wide surgical excision of the first metatarsal bone and reconstruction using a nonvascularized fibular autograft. After 3 years of follow-up, the graft was well incorporated and no recurrence was encountered. CONCLUSION: Osteoblastoma is rare in metatarsals; only 12 cases have been reported. It may have similar clinical and radiological picture to osteomyelitis. Wide surgical excision followed by fibular autograft reconstruction is an effective treatment option.


Asunto(s)
Neoplasias Óseas , Huesos Metatarsianos , Osteoblastoma , Adulto , Autoinjertos , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/cirugía , Peroné/trasplante , Humanos , Masculino , Huesos Metatarsianos/patología , Huesos Metatarsianos/cirugía , Osteoblastoma/diagnóstico por imagen , Osteoblastoma/cirugía
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