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1.
BMC Biol ; 21(1): 25, 2023 02 06.
Artículo en Inglés | MEDLINE | ID: mdl-36747211

RESUMEN

BACKGROUND: Gene duplication is a prevalent phenomenon and a major driving force underlying genome evolution. The process leading to the fixation of gene duplicates following duplication is critical to understand how genome evolves but remains fragmentally understood. Most previous studies on gene retention are based on gene duplicate analyses in single reference genome. No population-based comparative gene retention analysis has been performed to date. RESULTS: Taking advantage of recently published genomic data in Triticeae, we dissected a divergent homogentisate phytyltransferase (HPT2) lineage caught in the middle stage of gene fixation following duplication. The presence/absence of HPT2 in barley (diploid), wild emmer (tetraploid), and bread wheat (hexaploid) pangenome lines appears to be associated with gene dosage constraint and environmental adaption. Based on these observations, we adopted a phylogeny-based orthology inference approach and performed comparative gene retention analyses across barley, wild emmer, and bread wheat. This led to the identification of 326 HPT2-pattern-like genes at whole genome scale, representing a pool of gene duplicates in the middle stage of gene fixation. Majority of these HPT2-pattern-like genes were identified as small-scale duplicates, such as dispersed, tandem, and proximal duplications. Natural selection analyses showed that HPT2-pattern-like genes have experienced relaxed selection pressure, which is generally accompanied with partial positive selection and transcriptional divergence. Functional enrichment analyses showed that HPT2-pattern-like genes are over-represented with molecular-binding and defense response functions, supporting the potential role of environmental adaption during gene retention. We also observed that gene duplicates from larger gene family are more likely to be lost, implying a gene dosage constraint effect. Further comparative gene retention analysis in barley and bread wheat pangenome lines revealed combined effects of species-specific selection and gene dosage constraint. CONCLUSIONS: Comparative gene retention analyses at the population level support gene dosage constraint, environmental adaption, and species-specific selection as three factors that may affect gene retention following gene duplication. Our findings shed light on the evolutionary process leading to the retention of newly formed gene duplicates and will greatly improve our understanding on genome evolution via duplication.


Asunto(s)
Duplicación de Gen , Hordeum , Triticum/genética , Hordeum/genética , Pan , Familia de Multigenes , Evolución Molecular , Filogenia
2.
Plant Biotechnol J ; 21(1): 46-62, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36054248

RESUMEN

Divergent selection of populations in contrasting environments leads to functional genomic divergence. However, the genomic architecture underlying heterogeneous genomic differentiation remains poorly understood. Here, we de novo assembled two high-quality wild barley (Hordeum spontaneum K. Koch) genomes and examined genomic differentiation and gene expression patterns under abiotic stress in two populations. These two populations had a shared ancestry and originated in close geographic proximity but experienced different selective pressures due to their contrasting micro-environments. We identified structural variants that may have played significant roles in affecting genes potentially associated with well-differentiated phenotypes such as flowering time and drought response between two wild barley genomes. Among them, a 29-bp insertion into the promoter region formed a cis-regulatory element in the HvWRKY45 gene, which may contribute to enhanced tolerance to drought. A single SNP mutation in the promoter region may influence HvCO5 expression and be putatively linked to local flowering time adaptation. We also revealed significant genomic differentiation between the two populations with ongoing gene flow. Our results indicate that SNPs and small SVs link to genetic differentiation at the gene level through local adaptation and are maintained through divergent selection. In contrast, large chromosome inversions may have shaped the heterogeneous pattern of genomic differentiation along the chromosomes by suppressing chromosome recombination and gene flow. Our research offers novel insights into the genomic basis underlying local adaptation and provides valuable resources for the genetic improvement of cultivated barley.


Asunto(s)
Hordeum , Hordeum/genética , Genómica , Adaptación Fisiológica/genética , Genes de Plantas
3.
Nature ; 544(7651): 427-433, 2017 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-28447635

RESUMEN

Cereal grasses of the Triticeae tribe have been the major food source in temperate regions since the dawn of agriculture. Their large genomes are characterized by a high content of repetitive elements and large pericentromeric regions that are virtually devoid of meiotic recombination. Here we present a high-quality reference genome assembly for barley (Hordeum vulgare L.). We use chromosome conformation capture mapping to derive the linear order of sequences across the pericentromeric space and to investigate the spatial organization of chromatin in the nucleus at megabase resolution. The composition of genes and repetitive elements differs between distal and proximal regions. Gene family analyses reveal lineage-specific duplications of genes involved in the transport of nutrients to developing seeds and the mobilization of carbohydrates in grains. We demonstrate the importance of the barley reference sequence for breeding by inspecting the genomic partitioning of sequence variation in modern elite germplasm, highlighting regions vulnerable to genetic erosion.


Asunto(s)
Cromosomas de las Plantas/genética , Genoma de Planta/genética , Hordeum/genética , Núcleo Celular/genética , Centrómero/genética , Cromatina/genética , Cromatina/metabolismo , Mapeo Cromosómico , Cromosomas Artificiales Bacterianos/genética , Variación Genética , Genómica , Haplotipos/genética , Meiosis/genética , Secuencias Repetitivas de Ácidos Nucleicos/genética , Semillas/genética
4.
Plant J ; 93(3): 502-514, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29205595

RESUMEN

Pseudogenes have a reputation of being 'evolutionary relics' or 'junk DNA'. While they are well characterized in mammals, studies in more complex plant genomes have so far been hampered by the absence of reference genome sequences. Barley is one of the economically most important cereals and has a genome size of 5.1 Gb. With the first high-quality genome reference assembly available for a Triticeae crop, we conducted a whole-genome assessment of pseudogenes on the barley genome. We identified, characterized and classified 89 440 gene fragments and pseudogenes scattered along the chromosomes, with occasional hotspots and higher densities at the chromosome ends. Full-length pseudogenes (11 015) have preferentially retained their exon-intron structure. Retrotransposition of processed mRNAs only plays a marginal role in their creation. However, the distribution of retroposed pseudogenes reflects the Rabl configuration of barley chromosomes and thus hints at founding mechanisms. While parent genes related to the defense-response were found to be under-represented in cultivated barley, we detected several defense-related pseudogenes in wild barley accessions. The percentage of transcriptionally active pseudogenes is 7.2%, and these may potentially adopt new regulatory roles.The barley genome is rich in pseudogenes and small gene fragments mainly located towards chromosome tips or as tandemly repeated units. Our results indicate non-random duplication and pseudogenization preferences and improve our understanding of the dynamics of gene birth and death in large plant genomes and the mechanisms that lead to evolutionary innovations.


Asunto(s)
Genes de Plantas , Hordeum/genética , Seudogenes , Mapeo Cromosómico , Cromosomas de las Plantas , Duplicación de Gen , Familia de Multigenes , Selección Genética , Sintenía
6.
Proteomics ; 17(21)2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28898539

RESUMEN

Grapevine is an important perennial fruit to the wine industry, and has implications for the health industry with some causative agents proven to reduce heart disease. Since the sequencing and assembly of grapevine cultivar Pinot Noir, several studies have contributed to its genome annotation. This new study further contributes toward genome annotation efforts by conducting a proteogenomics analysis using the latest genome annotation from CRIBI, legacy proteomics dataset from cultivar Cabernet Sauvignon and a large RNA-seq dataset. A total of 341 novel annotation events are identified consisting of five frame-shifts, 37 translated UTRs, 15 exon boundaries, one novel splice, nine novel exons, 159 gene boundaries, 112 reverse strands, and one novel gene event in 213 genes and 323 proteins. From this proteogenomics evidence, the Augustus gene prediction tool predicted 52 novel and revised genes (54 protein isoforms), 11 genes of which are associated with key traits such as stress tolerance and floral and fruity wine characteristics. This study also highlights a likely over-assembly with the genome, particularly on chromosome 7.


Asunto(s)
Proteogenómica , Proteoma/análisis , Vitis/genética , Vitis/metabolismo , Cromosomas de las Plantas , Biología Computacional/métodos , Frutas/genética , Frutas/metabolismo , Genoma de Planta , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Anotación de Secuencia Molecular , Proteínas de Plantas/análisis , Proteínas de Plantas/genética , Vitis/crecimiento & desarrollo
7.
Proteomics ; 14(23-24): 2780-9, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25354770

RESUMEN

In recent years, a new paradigm for genome annotation has emerged, termed "proteogenomics," that leverages peptide MS to annotate a genome. This is achieved by mapping peptides to a six-frame translation of a genome, including available splice databases, which may suggest refinements to gene models. Using this approach, it is possible to refine gene regions such as exon boundaries, novel genes, gene boundaries, frame shifts, reverse strands, translated UTRs, and novel splice junctions. One of the challenges of proteogenomics is how best to (1) tackle assigning confidence to any resulting annotation and (2) apply these gene model refinements, either through manual annotation or through an automated process via training gene prediction tools. This is not a straightforward process, as many gene prediction tools have their defined suitability for niche genomes (either eukaryotic or prokaryotic) trained on and refined with model organisms such as Arabidopsis thaliana and Escherichia coli, and varying degrees of features that can leverage the use of external evidence. In this study, we outline a suitable approach toward preprocessing mass spectra and optimizing the MS/MS search for a given dataset. We also discuss future challenges, which continue to pose a problem in the field of proteogenomics, and better strategies to successfully tackle them with, using existing tools. We use Bradyrhizobium diazoefficiens (Nitrogen-fixing bacteria), with a 9.1 Mb genome as a case study, utilizing the latest in second-generation proteogenomics tools with multiple gene models for cross-validation of proteogenomics annotations.


Asunto(s)
Bradyrhizobium/metabolismo , Biología Computacional/métodos , Proteómica/métodos , Arabidopsis/metabolismo , Escherichia coli/metabolismo
8.
Arch Womens Ment Health ; 17(6): 519-28, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25037970

RESUMEN

The etiology of major depressive disorder (MDD) is likely to be heterogeneous, but postpartum depression (PPD) is hypothesized to represent a more homogenous subset of MDD. We use genome-wide SNP data to explore this hypothesis. We assembled a total cohort of 1,420 self-report cases of PPD and 9,473 controls with genome-wide genotypes from Australia, The Netherlands, Sweden and the UK. We estimated the total variance attributable to genotyped variants. We used association results from the Psychiatric Genomics Consortia (PGC) of bipolar disorder (BPD) and MDD to create polygenic scores in PPD and related MDD data sets to estimate the genetic overlap between the disorders. We estimated that the percentage of variance on the liability scale explained by common genetic variants to be 0.22 with a standard error of 0.12, p = 0.02. The proportion of variance (R (2)) from a logistic regression of PPD case/control status in all four cohorts on a SNP profile score weighted by PGC-BPD association results was small (0.1 %) but significant (p = 0.004) indicating a genetic overlap between BPD and PPD. The results were highly significant in the Australian and Dutch cohorts (R (2) > 1.1 %, p < 0.008), where the majority of cases met criteria for MDD. The genetic overlap between BPD and MDD was not significant in larger Australian and Dutch MDD case/control cohorts after excluding PPD cases (R (2) = 0.06 %, p = 0.08), despite the larger MDD group affording more power. Our results suggest an empirical genetic evidence for a more important shared genetic etiology between BPD and PPD than between BPD and MDD.


Asunto(s)
Depresión Posparto/genética , Trastorno Depresivo Mayor/genética , Predisposición Genética a la Enfermedad , Herencia Multifactorial , Adulto , Trastorno Bipolar/genética , Femenino , Variación Genética , Genotipo , Humanos , Modelos Logísticos , Masculino , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos , Factores de Riesgo , Encuestas y Cuestionarios , Adulto Joven
9.
Ochsner J ; 24(1): 58-61, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38510221

RESUMEN

Background: Pulmonary artery embolus is a rare complication following gunshot wounds that creates a unique and serious challenge for trauma surgeons. While the majority of bullets that embolize through the vascular system end in the peripheral circulation, approximately one-third enter the central venous circulation. Case Report: We present the case of a bullet embolus to the left pulmonary artery following gunshot wounds to the right chest and the abdomen, with the abdominal ballistic traversing the liver before entering the vena cava and embolizing. The patient's course was complicated by the development of severe acute respiratory distress syndrome that was successfully managed by venovenous extracorporeal membrane oxygenation. Conclusion: Venovenous extracorporeal membrane oxygenation support for severe acute respiratory distress syndrome after bullet embolization to the pulmonary tree and surgical embolectomy is a viable option in appropriately selected patients.

10.
Am Surg ; 90(6): 1427-1433, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38520302

RESUMEN

INTRODUCTION: The United States has one of the highest rates of gun violence and mass shootings. Timely medical attention in such events is critical. The objective of this study was to assess geographic disparities in mass shootings and access to trauma centers. METHODS: Data for all Level I and II trauma centers were extracted from the American College of Surgeons and the Trauma Center Association of America registries. Mass shooting event data (4+ individuals shot at a single event) were taken from the Gun Violence Archive between 2014 and 2018. RESULTS: A total of 564 trauma centers and 1672 mass shootings were included. Ratios of the number of mass shootings vs trauma centers per state ranged from 0 to 11.0 mass shootings per trauma center. States with the greatest disparity (highest ratio) included Louisiana and New Mexico. CONCLUSION: States in the southern regions of the US experience the greatest disparity due to a high burden of mass shootings with less access to trauma centers. Interventions are needed to increase access to trauma care and reduce mass shootings in these medically underserved areas.


Asunto(s)
Accesibilidad a los Servicios de Salud , Incidentes con Víctimas en Masa , Centros Traumatológicos , Heridas por Arma de Fuego , Humanos , Estados Unidos , Centros Traumatológicos/estadística & datos numéricos , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Heridas por Arma de Fuego/epidemiología , Heridas por Arma de Fuego/terapia , Incidentes con Víctimas en Masa/estadística & datos numéricos , Disparidades en Atención de Salud/estadística & datos numéricos , Violencia con Armas/estadística & datos numéricos , Sistema de Registros , Eventos de Tiroteos Masivos
11.
Proteomics ; 13(21): 3124-30, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24038899

RESUMEN

There is an increasing demand to develop cost-effective and accurate approaches to analyzing biological tissue samples. This is especially relevant in the fishing industry where closely related fish samples can be mislabeled, and the high market value of certain fish leads to the use of alternative species as substitutes, for example, Barramundi and Nile Perch (belonging to the same genus, Lates). There is a need to combine selective proteomic datasets with sophisticated computational analysis to devise a robust classification approach. This paper describes an integrated MS-based proteomics and bioinformatics approach to classifying a range of fish samples. A classifier is developed using training data that successfully discriminates between Barramundi and Nile Perch samples using a selected protein subset of the proteome. Additionally, the classifier is shown to successfully discriminate between test samples not used to develop the classifier, including samples that have been cooked, and to classify other fish species as neither Barramundi nor Nile Perch. This approach has applications to truth in labeling for fishmongers and restaurants, monitoring fish catches, and for scientific research into distances between species.


Asunto(s)
Biomarcadores/análisis , Biología Computacional/métodos , Proteínas de Peces/análisis , Perciformes , Alimentos Marinos , Animales , Teorema de Bayes , Biomarcadores/química , Proteínas de Peces/química , Proteínas de Peces/clasificación , Alimentos Marinos/análisis , Alimentos Marinos/clasificación
12.
Hum Reprod ; 27(12): 3616-21, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23010532

RESUMEN

STUDY QUESTION: Is there a contribution of the minor allele at the KRAS single nucleotide polymorphism (SNP) rs61764370 in the let-7 microRNA-binding site to endometriosis risk? SUMMARY ANSWER: We found no evidence for association between endometriosis risk and rs61764370 or any other SNPs in KRAS. WHAT IS KNOWN ALREADY: The rs61764370 SNP in the 3' untranslated region of the KRAS gene is predicted to disrupt a complementary binding site (LCS6) for the let-7 microRNA, and was recently reported to be at a high frequency (31%) in 132 women of varying ancestry with endometriosis compared with frequencies in a database of population controls (up to 7.6% depending on ancestry), suggesting a strong effect of this KRAS SNP in the aetiology of endometriosis. STUDY DESIGN, SIZE AND DURATION: This was a case-control study with a total of 11 206 subjects. The study was performed between February 2012 and July 2012. PARTICIPANTS/MATERIALS, SETTINGAND METHODS: We first investigated a possible association between common markers in KRAS and endometriosis risk from our genome-wide association (GWA) data in 3194 surgically confirmed endometriosis cases and 7060 controls of European ancestry. Although rs61764370 was not genotyped on the GWA arrays, five SNPs typed in the study were highly correlated with this variant. The rs61764370 and two SNPs highly correlated with rs61764370 were then genotyped in 933 endometriosis cases and 952 controls using the Sequenom MassARRAY platform. MAIN RESULTS AND THE ROLE OF CHANCE: There was no evidence for an association between rs61764370 and endometriosis risk P = 0.411 and odds ratio = 1.10 (95% confidence intervals: 0.88-1.36). We also found no evidence for an association between the highly correlated SNP rs17387019 and endometriosis. Their minor allele frequencies in cases and controls were of 0.087-0.091 similar to the population frequency reported previously for this variant in controls. Analyses of endometriosis cases with revised American Fertility Society stage III/IV disease also showed no evidence for an association between these SNPs and endometriosis risk. LIMITATIONS AND REASONS FOR CAUTION: The GWA and genotyped data sets were not independent since individuals and cases from some families overlap. Controls in our GWA study were not screened for endometriosis. WIDER IMPLICATIONS OF THE FINDINGS: The key SNP, rs61764370, was genotyped in a subset of samples. Our results do not support the suggestion that carrying the minor allele at rs61764370 contributes to a significant number of endometriosis cases and rs61764370 is, therefore, unlikely to be a useful marker of endometriosis risk. STUDY FUNDING/COMPETING INTEREST(S): The research was funded by grants from the Australian National Health and Medical Research Council and Wellcome Trust. None of the authors has competing interests for the study.


Asunto(s)
Endometriosis/genética , Genes ras/genética , MicroARNs/genética , Regiones no Traducidas 3' , Estudios de Casos y Controles , Femenino , Estudio de Asociación del Genoma Completo , Humanos , MicroARNs/metabolismo , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Proteínas ras/genética
13.
Am Surg ; 88(6): 1059-1061, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33596101

RESUMEN

The Covid-19 pandemic has provided challenges for surgical residency programs demanding fluid decision making focused on providing care for our patients, maintaining an educational environment, and protecting the well-being of our residents. This brief report summarizes the impact of the impact on our residency programs clinical care and education. We have identified opportunities to improve our program using videoconferencing, managing recruitment, and maintaining a satisfactory caseload to ensure the highest possible quality of surgical education.


Asunto(s)
COVID-19 , Internado y Residencia , Humanos , Pandemias/prevención & control , SARS-CoV-2 , Comunicación por Videoconferencia
14.
Plant Genome ; 15(3): e20221, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35644986

RESUMEN

Bread wheat (Triticum aestivum L.) is one of humanity's most important staple crops, characterized by a large and complex genome with a high level of gene presence-absence variation (PAV) between cultivars, hampering genomic approaches for crop improvement. With the growing global population and the increasing impact of climate change on crop yield, there is an urgent need to apply genomic approaches to accelerate wheat breeding. With recent advances in DNA sequencing technology, a growing number of high-quality reference genomes are becoming available, reflecting the genetic content of a diverse range of cultivars. However, information on the presence or absence of genomic regions has been hard to visualize and interrogate because of the size of these genomes and the lack of suitable bioinformatics tools. To address this limitation, we have produced a wheat pangenome graph maintained within an online database to facilitate interrogation and comparison of wheat cultivar genomes. The database allows users to visualize regions of the pangenome to assess PAV between bread wheat genomes.


Graph pangenomes represent more genomic variants than reference genomes. We present a wheat graph pangenome based on 16 public assemblies. We present Wheat Panache, an online visual representation of this graph. Wheat Panache lets users search the graph for presence-absence variants. We also distribute the graph preindexed for Giraffe utilization.


Asunto(s)
Pan , Triticum , Genoma de Planta , Fitomejoramiento , Análisis de Secuencia de ADN , Triticum/genética
15.
Am Surg ; 88(4): 758-763, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34974740

RESUMEN

INTRODUCTION: The COVID-19 pandemic changed the face of health care worldwide. While the impacts from this catastrophe are still being measured, it is important to understand how this pandemic impacted existing health care systems. As such, the objective of this study was to quantify its effects on trauma volume at an urban Level 1 trauma center in one of the earliest and most significantly affected US cities. METHODS: A retrospective chart review of consecutive trauma patients admitted to a Level 1 trauma center from January 1, 2017 to December 31, 2020 was completed. The total trauma volume in the years prior to the pandemic (2017-2019) was compared to the volume in 2020. These data were then further stratified to compare quarterly volume across all 4 years. RESULTS: A total of 4138 trauma patients were treated in the emergency room throughout 2020 with 4124 seen during 2019, 3774 during 2018, and 3505 during 2017 in the pre-COVID-19 time period. No significant difference in the volume of minor trauma or trauma transfers was observed (P < .05). However, there was a significant increase in the number of major traumas in 2020 as compared to prior years (38.5% vs 35.6%, P < .01) and in the volume of penetrating trauma (29.1% vs 24.0%, P < .01). DISCUSSION: During the COVID-19 outbreak, trauma remained a significant health care concern. This study found an increase in volume of penetrating trauma, specifically gunshot wounds throughout 2020. It remains important to continue to devote resources to trauma patients during the ongoing COVID-19 pandemic.


Asunto(s)
COVID-19 , Heridas por Arma de Fuego , COVID-19/epidemiología , Humanos , Pandemias , Estudios Retrospectivos , SARS-CoV-2 , Centros Traumatológicos , Heridas por Arma de Fuego/epidemiología
16.
Am Surg ; 88(5): 840-845, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-34797191

RESUMEN

BACKGROUND: Pelvic fractures cause significant morbidity in the trauma population. Many factors influence time to fracture fixation. No previous study has determined the optimal time window for pelvic fixation. METHODS: A retrospective review of trauma patients with pelvic fractures from 2016 to 2020 was performed. Patients were stratified into EARLY and LATE groups, by time to fixation within 3 days or greater than 3 days whether from admission or from completion of a life-saving procedure. Unpaired Student's t-test and Fisher's exact test were performed with multiple linear regression for variables with P < .2 on univariate analysis. RESULTS: 287 patients were identified with a median fixation time of 3 days. There was no significant difference in demographics, incidence of preceding life-saving procedure, angioembolization, or mechanism of injury in the 2 groups (P > .05). Length of stay in the EARLY group was significantly reduced at 11.9 +/- .7 days compared to 18.0 +/-1.2 days in the LATE group (P < .001). There was no significant difference in rates of ventilator-associated pneumonia, deep vein thrombosis, pulmonary embolism (PE), acute kidney injury (AKI), pressure ulcer, or acute respiratory distress syndrome (ARDS) (P > .05). There were significantly more SSIs (surgical site infections) in the LATE group. After multiple linear regression adjusting for covariates of age and ISS, the difference in hospital LOS was 5.5 days (95% CI -8.0 to -3.1, P < .001). DISCUSSION: Fixation of traumatic pelvic fractures within 3 days reduced LOS. Prospective multi-center studies will help identify additional factors to decrease time to surgery and improve patient outcomes.


Asunto(s)
Fracturas Óseas , Huesos Pélvicos , Fijación de Fractura/métodos , Fracturas Óseas/etiología , Fracturas Óseas/cirugía , Humanos , Puntaje de Gravedad del Traumatismo , Tiempo de Internación , Huesos Pélvicos/lesiones , Huesos Pélvicos/cirugía , Estudios Prospectivos , Estudios Retrospectivos
17.
Am Surg ; 88(3): 549-551, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34314649

RESUMEN

A 26-year-old male presented to a Level 1 trauma center following a motorcycle crash. Workup of his injuries demonstrated a grade 5 liver laceration with active extravasation, grade 5 kidney laceration, right apical pneumothorax, and a sternal fracture. The patient underwent hepatic artery embolization with interventional radiology (IR) followed by an exploratory laparotomy, liver packing, and small bowel resection with primary anastomosis. Four days post-op, the patient developed dyspnea, tachycardia, and decreasing oxygen saturation. Computed tomography pulmonary angiography demonstrated perihepatic fluid compressing the right atrium and inferior vena cava. Percutaneous perihepatic drain placement with aspiration of 700 mL bilious fluid resulted in immediate resolution of the compression. He subsequently underwent endoscopic retrograde cholangiopancreatography (ERCP) with stenting of the ampulla nine days later. The patient was discharged ten days post-ERCP with oral amoxicillin/clavulanic acid for polymicrobial coverage and follow-up with gastroenterology and IR for stent removal and drain maintenance.


Asunto(s)
Atrios Cardíacos , Hígado/lesiones , Vena Cava Inferior , Adulto , Ampolla Hepatopancreática , Bilis , Colangiopancreatografia Retrógrada Endoscópica , Constricción Patológica/diagnóstico por imagen , Constricción Patológica/etiología , Drenaje , Embolización Terapéutica/métodos , Fracturas Óseas/etiología , Atrios Cardíacos/diagnóstico por imagen , Arteria Hepática , Humanos , Intestino Delgado/cirugía , Riñón/lesiones , Laceraciones/etiología , Laparotomía , Masculino , Stents , Esternón/lesiones , Síndrome , Vena Cava Inferior/diagnóstico por imagen
18.
BMC Genomics ; 12: 600, 2011 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-22151917

RESUMEN

BACKGROUND: Euphorbia fischeriana is an important medicinal plant found in Northeast China. The plant roots contain many medicinal compounds including 12-deoxyphorbol-13-acetate, commonly known as prostratin that is a phorbol ester from the tigliane diterpene series. Prostratin is a protein kinase C activator and is effective in the treatment of Human Immunodeficiency Virus (HIV) by acting as a latent HIV activator. Latent HIV is currently the biggest limitation for viral eradication. The aim of this study was to sequence, assemble and annotate the E. fischeriana transcriptome to better understand the potential biochemical pathways leading to the synthesis of prostratin and other related diterpene compounds. RESULTS: In this study we conducted a high throughput RNA-seq approach to sequence the root transcriptome of E. fischeriana. We assembled 18,180 transcripts, of these the majority encoded protein-coding genes and only 17 transcripts corresponded to known RNA genes. Interestingly, we identified 5,956 protein-coding transcripts with high similarity (> = 75%) to Ricinus communis, a close relative to E. fischeriana. We also evaluated the conservation of E. fischeriana genes against EST datasets from the Euphorbeacea family, which included R. communis, Hevea brasiliensis and Euphorbia esula. We identified a core set of 1,145 gene clusters conserved in all four species and 1,487 E. fischeriana paralogous genes. Furthermore, we screened E. fischeriana transcripts against an in-house reference database for genes implicated in the biosynthesis of upstream precursors to prostratin. This identified 24 and 9 candidate transcripts involved in the terpenoid and diterpenoid biosyntehsis pathways, respectively. The majority of the candidate genes in these pathways presented relatively low expression levels except for 1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate synthase (HDS) and isopentenyl diphosphate/dimethylallyl diphosphate synthase (IDS), which are required for multiple downstream pathways including synthesis of casbene, a proposed precursor to prostratin. CONCLUSION: The resources generated in this study provide new insights into the upstream pathways to the synthesis of prostratin and will likely facilitate functional studies aiming to produce larger quantities of this compound for HIV research and/or treatment of patients.


Asunto(s)
Euphorbia/genética , Genes de Plantas , Ésteres del Forbol/química , Raíces de Plantas/metabolismo , Transcriptoma
19.
Mol Hum Reprod ; 17(2): 92-103, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20935158

RESUMEN

Previous microarray analyses identified 22 microRNAs (miRNAs) differentially expressed in paired ectopic and eutopic endometrium of women with and without endometriosis. To investigate further the role of these miRNAs in women with endometriosis, we conducted an association study aiming to explore the relationship between endometriosis risk and single-nucleotide polymorphisms (SNPs) in miRNA target sites for these differentially expressed miRNAs. A panel of 102 SNPs in the predicted miRNA binding sites were evaluated for an endometriosis association study and an ingenuity pathway analysis was performed. Fourteen rare variants were identified in this study. We found SNP rs14647 in the Wolf-Hirschhorn syndrome candidate gene1 (WHSC1) 3'UTR (untranslated region) was associated with endometriosis-related infertility presenting an odds ratio of 12.2 (95% confidence interval = 2.4-60.7, P = 9.03 × 10(-5)). SNP haplotype AGG in the solute carrier family 22, member 23 (SLC22A23) 3'UTR was associated with endometriosis-related infertility and more severe disease. With the individual genotyping data, ingenuity pathways analysis identified the tumour necrosis factor and cyclin-dependant kinase inhibitor as major factors in the molecular pathways. Significant associations between WHSC1 alleles and endometriosis-related infertility and SLC22A23 haplotypes and the disease severe stage were identified. These findings may help focus future research on subphenotypes of this disease. Replication studies in independent large sample sets to confirm and characterize the involvement of the gene variation in the pathogenesis of endometriosis are needed.


Asunto(s)
Endometriosis/genética , Endometrio/metabolismo , Estudios de Asociación Genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Adulto , Proteínas Inhibidoras de las Quinasas Dependientes de la Ciclina/genética , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Riesgo , Alineación de Secuencia , Factor de Necrosis Tumoral alfa/genética , Síndrome de Wolf-Hirschhorn/genética
20.
Ochsner J ; 21(1): 104-107, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33828434

RESUMEN

Background: Visceral artery aneurysms and pseudoaneurysms are uncommon phenomena with a high mortality rate in cases of rupture. These rare vascular pathologies are usually asymptomatic and are therefore generally discovered incidentally on computed tomography or magnetic resonance imaging examination. Current therapeutic options have trended toward a minimally invasive approach because of evolving endovascular treatment options, with open operations typically reserved for cases of intraabdominal hemorrhage. Case Report: We describe a case of gastroduodenal artery pseudoaneurysm manifesting as obstructive jaundice and pancreatitis because of extrahepatic compression of the common bile duct and pancreatic duct by mass effect. Open repair was ultimately required secondary to arterial anatomy that was not amenable to any endovascular treatment approach. Conclusion: While endovascular options are the preferred treatment modality for visceral artery aneurysms and pseudo-aneurysms, some cases require definitive open repair for a variety of reasons, including unsuitable anatomy.

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