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1.
Anesth Analg ; 135(4): 807-814, 2022 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-35759402

RESUMEN

BACKGROUND: Reversal of neuromuscular blockade (NMB) with sugammadex can cause marked bradycardia and asystole. Administration of sugammadex typically occurs in a dynamic period when anesthetic adjuvants and gas concentrations are being titrated to achieve emergence. This evaluation examined the heart rate (HR) responses to sugammadex to reverse moderate to deep NMB during a steady-state period and sought mechanisms for HR changes. METHODS: Patients with normal sinus rhythm, who were undergoing elective surgery that included rocuronium for NMB, were evaluated. After surgery, while at steady-state surgical depth anesthesia with sevoflurane and mechanical ventilation, patients received either placebo or 2 or 4 mg/kg of sugammadex to reverse moderate to deep NMB. Study personnel involved in data analysis were blinded to treatment. Continuous electrocardiogram (ECG) was recorded from the 5 minutes before and 5 minutes after sugammadex/placebo administration. R-R intervals were converted to HR and averaged in 1-minute increments. The maximum prolongation of an R-R interval after sugammadex was converted to an instantaneous HR. RESULTS: A total of 63 patients were evaluated: 8 received placebo, and 38 and 17 received 2 and 4 mg/kg sugammadex. Age, body mass index, and patient factors were similar in groups. Placebo did not elicit HR changes, whereas sugammadex caused maximum instantaneous HR slowing (calculated from the longest R-R interval), ranging from 2 to 19 beats/min. There were 7 patients with maximum HR slowing >10 beats/min. The average HR change and 95% confidence interval (CI) during the 5 minutes after 2 mg/kg sugammadex were 3.1 (CI, 2.3-4.1) beats/min, and this was not different from the 4 mg/kg sugammadex group (4.1 beats/min [CI, 2.5-5.6]). HR variability derived from the standard deviation of consecutive R-R intervals increased after sugammadex. CONCLUSIONS: Sugammadex to reverse moderate and deep NMB resulted in a fast onset and variable magnitude of HR slowing in patients. A difference in HR slowing as a function of dose did not achieve statistical significance. The observational nature of the investigation prevented a full understanding of the mechanism(s) of the HR slowing.


Asunto(s)
Anestésicos , Bloqueo Neuromuscular , Fármacos Neuromusculares no Despolarizantes , gamma-Ciclodextrinas , Adyuvantes Anestésicos , Androstanoles , Frecuencia Cardíaca , Humanos , Bloqueo Neuromuscular/efectos adversos , Bloqueo Neuromuscular/métodos , Fármacos Neuromusculares no Despolarizantes/efectos adversos , Rocuronio , Sevoflurano , Sugammadex , gamma-Ciclodextrinas/efectos adversos
2.
Nature ; 527(7579): 459-65, 2015 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-26580012

RESUMEN

Acorn worms, also known as enteropneust (literally, 'gut-breathing') hemichordates, are marine invertebrates that share features with echinoderms and chordates. Together, these three phyla comprise the deuterostomes. Here we report the draft genome sequences of two acorn worms, Saccoglossus kowalevskii and Ptychodera flava. By comparing them with diverse bilaterian genomes, we identify shared traits that were probably inherited from the last common deuterostome ancestor, and then explore evolutionary trajectories leading from this ancestor to hemichordates, echinoderms and chordates. The hemichordate genomes exhibit extensive conserved synteny with amphioxus and other bilaterians, and deeply conserved non-coding sequences that are candidates for conserved gene-regulatory elements. Notably, hemichordates possess a deuterostome-specific genomic cluster of four ordered transcription factor genes, the expression of which is associated with the development of pharyngeal 'gill' slits, the foremost morphological innovation of early deuterostomes, and is probably central to their filter-feeding lifestyle. Comparative analysis reveals numerous deuterostome-specific gene novelties, including genes found in deuterostomes and marine microbes, but not other animals. The putative functions of these genes can be linked to physiological, metabolic and developmental specializations of the filter-feeding ancestor.


Asunto(s)
Cordados no Vertebrados/genética , Evolución Molecular , Genoma/genética , Animales , Cordados no Vertebrados/clasificación , Secuencia Conservada/genética , Equinodermos/clasificación , Equinodermos/genética , Familia de Multigenes/genética , Filogenia , Transducción de Señal , Sintenía/genética , Factor de Crecimiento Transformador beta
3.
BMC Biol ; 18(1): 142, 2020 10 19.
Artículo en Inglés | MEDLINE | ID: mdl-33070780

RESUMEN

BACKGROUND: The western flower thrips, Frankliniella occidentalis (Pergande), is a globally invasive pest and plant virus vector on a wide array of food, fiber, and ornamental crops. The underlying genetic mechanisms of the processes governing thrips pest and vector biology, feeding behaviors, ecology, and insecticide resistance are largely unknown. To address this gap, we present the F. occidentalis draft genome assembly and official gene set. RESULTS: We report on the first genome sequence for any member of the insect order Thysanoptera. Benchmarking Universal Single-Copy Ortholog (BUSCO) assessments of the genome assembly (size = 415.8 Mb, scaffold N50 = 948.9 kb) revealed a relatively complete and well-annotated assembly in comparison to other insect genomes. The genome is unusually GC-rich (50%) compared to other insect genomes to date. The official gene set (OGS v1.0) contains 16,859 genes, of which ~ 10% were manually verified and corrected by our consortium. We focused on manual annotation, phylogenetic, and expression evidence analyses for gene sets centered on primary themes in the life histories and activities of plant-colonizing insects. Highlights include the following: (1) divergent clades and large expansions in genes associated with environmental sensing (chemosensory receptors) and detoxification (CYP4, CYP6, and CCE enzymes) of substances encountered in agricultural environments; (2) a comprehensive set of salivary gland genes supported by enriched expression; (3) apparent absence of members of the IMD innate immune defense pathway; and (4) developmental- and sex-specific expression analyses of genes associated with progression from larvae to adulthood through neometaboly, a distinct form of maturation differing from either incomplete or complete metamorphosis in the Insecta. CONCLUSIONS: Analysis of the F. occidentalis genome offers insights into the polyphagous behavior of this insect pest that finds, colonizes, and survives on a widely diverse array of plants. The genomic resources presented here enable a more complete analysis of insect evolution and biology, providing a missing taxon for contemporary insect genomics-based analyses. Our study also offers a genomic benchmark for molecular and evolutionary investigations of other Thysanoptera species.


Asunto(s)
Genoma de los Insectos , Rasgos de la Historia de Vida , Thysanoptera/fisiología , Transcriptoma , Animales , Productos Agrícolas , Conducta Alimentaria , Cadena Alimentaria , Inmunidad Innata/genética , Percepción , Filogenia , Reproducción/genética , Thysanoptera/genética , Thysanoptera/inmunología
5.
BMC Genomics ; 21(1): 227, 2020 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-32171258

RESUMEN

BACKGROUND: Halyomorpha halys (Stål), the brown marmorated stink bug, is a highly invasive insect species due in part to its exceptionally high levels of polyphagy. This species is also a nuisance due to overwintering in human-made structures. It has caused significant agricultural losses in recent years along the Atlantic seaboard of North America and in continental Europe. Genomic resources will assist with determining the molecular basis for this species' feeding and habitat traits, defining potential targets for pest management strategies. RESULTS: Analysis of the 1.15-Gb draft genome assembly has identified a wide variety of genetic elements underpinning the biological characteristics of this formidable pest species, encompassing the roles of sensory functions, digestion, immunity, detoxification and development, all of which likely support H. halys' capacity for invasiveness. Many of the genes identified herein have potential for biomolecular pesticide applications. CONCLUSIONS: Availability of the H. halys genome sequence will be useful for the development of environmentally friendly biomolecular pesticides to be applied in concert with more traditional, synthetic chemical-based controls.


Asunto(s)
Heterópteros/genética , Proteínas de Insectos/genética , Resistencia a los Insecticidas , Secuenciación Completa del Genoma/métodos , Animales , Ecosistema , Transferencia de Gen Horizontal , Tamaño del Genoma , Heterópteros/clasificación , Especies Introducidas , Filogenia
6.
Nature ; 508(7497): 494-9, 2014 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-24759411

RESUMEN

The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions of years ago genetic decay ravaged the Y chromosome, and only three per cent of its ancestral genes survived. We reconstructed the evolution of the Y chromosome across eight mammals to identify biases in gene content and the selective pressures that preserved the surviving ancestral genes. Our findings indicate that survival was nonrandom, and in two cases, convergent across placental and marsupial mammals. We conclude that the gene content of the Y chromosome became specialized through selection to maintain the ancestral dosage of homologous X-Y gene pairs that function as broadly expressed regulators of transcription, translation and protein stability. We propose that beyond its roles in testis determination and spermatogenesis, the Y chromosome is essential for male viability, and has unappreciated roles in Turner's syndrome and in phenotypic differences between the sexes in health and disease.


Asunto(s)
Evolución Molecular , Dosificación de Gen/genética , Mamíferos/genética , Cromosoma Y/genética , Animales , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Enfermedad , Femenino , Regulación de la Expresión Génica , Salud , Humanos , Masculino , Marsupiales/genética , Anotación de Secuencia Molecular , Datos de Secuencia Molecular , Biosíntesis de Proteínas/genética , Estabilidad Proteica , Selección Genética/genética , Homología de Secuencia , Caracteres Sexuales , Espermatogénesis/genética , Testículo/metabolismo , Transcripción Genética/genética , Síndrome de Turner/genética , Cromosoma X/genética
7.
Acta Anaesthesiol Scand ; 64(6): 729-734, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32057088

RESUMEN

BACKGROUND: Desflurane has adverse environmental effects, but has clinical advantages to speed emergence and return of protective airway reflexes compared with sevoflurane. We hypothesized that weaning of the inspired sevoflurane during the final 15 minutes of surgery would eliminate differences in airway reflex recovery between these agents. METHODS: After obtaining IRB approval and informed consent, 40 patients undergoing elective surgery (≥1-hour) randomly received desflurane or sevoflurane. Patients swallowed 20 mL of water without drooling or coughing, and then received sedation and PONV pre-medication. Anesthesia was induced using propofol and fentanyl and maintained with desflurane or sevoflurane through a laryngeal mask airway maintaining a bispectral index of 45-50 and 50-60 during the final 15 minutes before surgery end. Cardiorespiratory variables and age-adjusted minimal alveolar concentration were recorded. The duration between anesthetic discontinuation and first appropriate response to command was measured; the laryngeal mask airway was removed. Two minutes after responding to command, patients were positioned semi-upright and attempted to swallow water. If successful swallowing was not achieved, the test was repeated every 4 minutes after each failure until successful swallowing was achieved. RESULTS: Average anesthetic concentration and bispectral index was similar in patients receiving desflurane vs sevoflurane. Response times after discontinuation of anesthetics were similar. There were no differences in the recovery of swallowing ability between desflurane and sevoflurane groups. CONCLUSION: Weaning of sevoflurane during the final 15 minutes of surgery eliminates clinical advantages of the more rapid return of airway reflexes with desflurane.


Asunto(s)
Periodo de Recuperación de la Anestesia , Anestésicos por Inhalación/farmacología , Deglución/efectos de los fármacos , Desflurano/farmacología , Procedimientos Quirúrgicos Electivos , Sevoflurano/farmacología , Adulto , Anciano , Anciano de 80 o más Años , Anestésicos por Inhalación/administración & dosificación , Desflurano/administración & dosificación , Femenino , Humanos , Máscaras Laríngeas , Masculino , Persona de Mediana Edad , Reflejo/efectos de los fármacos , Sevoflurano/administración & dosificación , Tiempo , Adulto Joven
8.
BMC Biol ; 16(1): 54, 2018 05 18.
Artículo en Inglés | MEDLINE | ID: mdl-29776407

RESUMEN

BACKGROUND: Trichogrammatids are minute parasitoid wasps that develop within other insect eggs. They are less than half a millimeter long, smaller than some protozoans. The Trichogrammatidae are one of the earliest branching families of Chalcidoidea: a diverse superfamily of approximately half a million species of parasitoid wasps, proposed to have evolved from a miniaturized ancestor. Trichogramma are frequently used in agriculture, released as biological control agents against major moth and butterfly pests. Additionally, Trichogramma are well known for their symbiotic bacteria that induce asexual reproduction in infected females. Knowledge of the genome sequence of Trichogramma is a major step towards further understanding its biology and potential applications in pest control. RESULTS: We report the 195-Mb genome sequence of Trichogramma pretiosum and uncover signatures of miniaturization and adaptation in Trichogramma and related parasitoids. Comparative analyses reveal relatively rapid evolution of proteins involved in ribosome biogenesis and function, transcriptional regulation, and ploidy regulation. Chalcids also show loss or especially rapid evolution of 285 gene clusters conserved in other Hymenoptera, including many that are involved in signal transduction and embryonic development. Comparisons between sexual and asexual lineages of Trichogramma pretiosum reveal that there is no strong evidence for genome degradation (e.g., gene loss) in the asexual lineage, although it does contain a lower repeat content than the sexual lineage. Trichogramma shows particularly rapid genome evolution compared to other hymenopterans. We speculate these changes reflect adaptations to miniaturization, and to life as a specialized egg parasitoid. CONCLUSIONS: The genomes of Trichogramma and related parasitoids are a valuable resource for future studies of these diverse and economically important insects, including explorations of parasitoid biology, symbiosis, asexuality, biological control, and the evolution of miniaturization. Understanding the molecular determinants of parasitism can also inform mass rearing of Trichogramma and other parasitoids for biological control.


Asunto(s)
Evolución Molecular , Control Biológico de Vectores , Avispas/clasificación , Avispas/genética , Animales , Genómica , Mariposas Nocturnas/parasitología , Filogenia , Avispas/patogenicidad , Secuenciación Completa del Genoma/métodos
9.
BMC Genomics ; 19(1): 832, 2018 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-30463532

RESUMEN

BACKGROUND: Having conquered water surfaces worldwide, the semi-aquatic bugs occupy ponds, streams, lakes, mangroves, and even open oceans. The diversity of this group has inspired a range of scientific studies from ecology and evolution to developmental genetics and hydrodynamics of fluid locomotion. However, the lack of a representative water strider genome hinders our ability to more thoroughly investigate the molecular mechanisms underlying the processes of adaptation and diversification within this group. RESULTS: Here we report the sequencing and manual annotation of the Gerris buenoi (G. buenoi) genome; the first water strider genome to be sequenced thus far. The size of the G. buenoi genome is approximately 1,000 Mb, and this sequencing effort has recovered 20,949 predicted protein-coding genes. Manual annotation uncovered a number of local (tandem and proximal) gene duplications and expansions of gene families known for their importance in a variety of processes associated with morphological and physiological adaptations to a water surface lifestyle. These expansions may affect key processes associated with growth, vision, desiccation resistance, detoxification, olfaction and epigenetic regulation. Strikingly, the G. buenoi genome contains three insulin receptors, suggesting key changes in the rewiring and function of the insulin pathway. Other genomic changes affecting with opsin genes may be associated with wavelength sensitivity shifts in opsins, which is likely to be key in facilitating specific adaptations in vision for diverse water habitats. CONCLUSIONS: Our findings suggest that local gene duplications might have played an important role during the evolution of water striders. Along with these findings, the sequencing of the G. buenoi genome now provides us the opportunity to pursue exciting research opportunities to further understand the genomic underpinnings of traits associated with the extreme body plan and life history of water striders.


Asunto(s)
Genoma , Heterópteros/genética , Heterópteros/fisiología , Proteínas de Insectos/genética , Adaptación Fisiológica , Animales , Evolución Molecular , Genómica , Heterópteros/clasificación , Fenotipo , Filogenia
10.
Mol Biol Evol ; 34(8): 1838-1862, 2017 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-28460028

RESUMEN

Chemosensory-related gene (CRG) families have been studied extensively in insects, but their evolutionary history across the Arthropoda had remained relatively unexplored. Here, we address current hypotheses and prior conclusions on CRG family evolution using a more comprehensive data set. In particular, odorant receptors were hypothesized to have proliferated during terrestrial colonization by insects (hexapods), but their association with other pancrustacean clades and with independent terrestrial colonizations in other arthropod subphyla have been unclear. We also examine hypotheses on which arthropod CRG family is most ancient. Thus, we reconstructed phylogenies of CRGs, including those from new arthropod genomes and transcriptomes, and mapped CRG gains and losses across arthropod lineages. Our analysis was strengthened by including crustaceans, especially copepods, which reside outside the hexapod/branchiopod clade within the subphylum Pancrustacea. We generated the first high-resolution genome sequence of the copepod Eurytemora affinis and annotated its CRGs. We found odorant receptors and odorant binding proteins present only in hexapods (insects) and absent from all other arthropod lineages, indicating that they are not universal adaptations to land. Gustatory receptors likely represent the oldest chemosensory receptors among CRGs, dating back to the Placozoa. We also clarified and confirmed the evolutionary history of antennal ionotropic receptors across the Arthropoda. All antennal ionotropic receptors in E. affinis were expressed more highly in males than in females, suggestive of an association with male mate-recognition behavior. This study is the most comprehensive comparative analysis to date of CRG family evolution across the largest and most speciose metazoan phylum Arthropoda.


Asunto(s)
Artrópodos/genética , Receptores Odorantes/genética , Animales , Células Quimiorreceptoras/fisiología , Copépodos/genética , Crustáceos/genética , Bases de Datos de Ácidos Nucleicos , Evolución Molecular , Genoma/genética , Insectos/genética , Familia de Multigenes/genética , Filogenia
11.
Environ Sci Technol ; 52(10): 6009-6022, 2018 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-29634279

RESUMEN

Hyalella azteca is a cryptic species complex of epibenthic amphipods of interest to ecotoxicology and evolutionary biology. It is the primary crustacean used in North America for sediment toxicity testing and an emerging model for molecular ecotoxicology. To provide molecular resources for sediment quality assessments and evolutionary studies, we sequenced, assembled, and annotated the genome of the H. azteca U.S. Lab Strain. The genome quality and completeness is comparable with other ecotoxicological model species. Through targeted investigation and use of gene expression data sets of H. azteca exposed to pesticides, metals, and other emerging contaminants, we annotated and characterized the major gene families involved in sequestration, detoxification, oxidative stress, and toxicant response. Our results revealed gene loss related to light sensing, but a large expansion in chemoreceptors, likely underlying sensory shifts necessary in their low light habitats. Gene family expansions were also noted for cytochrome P450 genes, cuticle proteins, ion transporters, and include recent gene duplications in the metal sequestration protein, metallothionein. Mapping of differentially expressed transcripts to the genome significantly increased the ability to functionally annotate toxicant responsive genes. The H. azteca genome will greatly facilitate development of genomic tools for environmental assessments and promote an understanding of how evolution shapes toxicological pathways with implications for environmental and human health.


Asunto(s)
Anfípodos , Contaminantes Químicos del Agua , Animales , Ecotoxicología , Sedimentos Geológicos , América del Norte , Pruebas de Toxicidad
12.
Nature ; 483(7387): 82-6, 2012 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-22367542

RESUMEN

The human X and Y chromosomes evolved from an ordinary pair of autosomes during the past 200-300 million years. The human MSY (male-specific region of Y chromosome) retains only three percent of the ancestral autosomes' genes owing to genetic decay. This evolutionary decay was driven by a series of five 'stratification' events. Each event suppressed X-Y crossing over within a chromosome segment or 'stratum', incorporated that segment into the MSY and subjected its genes to the erosive forces that attend the absence of crossing over. The last of these events occurred 30 million years ago, 5 million years before the human and Old World monkey lineages diverged. Although speculation abounds regarding ongoing decay and looming extinction of the human Y chromosome, remarkably little is known about how many MSY genes were lost in the human lineage in the 25 million years that have followed its separation from the Old World monkey lineage. To investigate this question, we sequenced the MSY of the rhesus macaque, an Old World monkey, and compared it to the human MSY. We discovered that during the last 25 million years MSY gene loss in the human lineage was limited to the youngest stratum (stratum 5), which comprises three percent of the human MSY. In the older strata, which collectively comprise the bulk of the human MSY, gene loss evidently ceased more than 25 million years ago. Likewise, the rhesus MSY has not lost any older genes (from strata 1-4) during the past 25 million years, despite its major structural differences to the human MSY. The rhesus MSY is simpler, with few amplified gene families or palindromes that might enable intrachromosomal recombination and repair. We present an empirical reconstruction of human MSY evolution in which each stratum transitioned from rapid, exponential loss of ancestral genes to strict conservation through purifying selection.


Asunto(s)
Cromosomas Humanos Y/genética , Secuencia Conservada/genética , Evolución Molecular , Eliminación de Gen , Macaca mulatta/genética , Cromosoma Y/genética , Animales , Intercambio Genético/genética , Amplificación de Genes/genética , Humanos , Hibridación Fluorescente in Situ , Masculino , Modelos Genéticos , Datos de Secuencia Molecular , Pan troglodytes/genética , Mapeo de Híbrido por Radiación , Selección Genética/genética , Factores de Tiempo
13.
BMC Biol ; 15(1): 62, 2017 07 31.
Artículo en Inglés | MEDLINE | ID: mdl-28756775

RESUMEN

BACKGROUND: The duplication of genes can occur through various mechanisms and is thought to make a major contribution to the evolutionary diversification of organisms. There is increasing evidence for a large-scale duplication of genes in some chelicerate lineages including two rounds of whole genome duplication (WGD) in horseshoe crabs. To investigate this further, we sequenced and analyzed the genome of the common house spider Parasteatoda tepidariorum. RESULTS: We found pervasive duplication of both coding and non-coding genes in this spider, including two clusters of Hox genes. Analysis of synteny conservation across the P. tepidariorum genome suggests that there has been an ancient WGD in spiders. Comparison with the genomes of other chelicerates, including that of the newly sequenced bark scorpion Centruroides sculpturatus, suggests that this event occurred in the common ancestor of spiders and scorpions, and is probably independent of the WGDs in horseshoe crabs. Furthermore, characterization of the sequence and expression of the Hox paralogs in P. tepidariorum suggests that many have been subject to neo-functionalization and/or sub-functionalization since their duplication. CONCLUSIONS: Our results reveal that spiders and scorpions are likely the descendants of a polyploid ancestor that lived more than 450 MYA. Given the extensive morphological diversity and ecological adaptations found among these animals, rivaling those of vertebrates, our study of the ancient WGD event in Arachnopulmonata provides a new comparative platform to explore common and divergent evolutionary outcomes of polyploidization events across eukaryotes.


Asunto(s)
Evolución Molecular , Duplicación de Gen , Genoma , Arañas/genética , Animales , Femenino , Masculino , Sintenía
14.
Mil Med ; 2022 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-36317545

RESUMEN

INTRODUCTION: Opioids are often a mainstay of managing postsurgical pain. Persistent use of opioids for more than 90 days after surgery is problematic, and the incidence of this adverse outcome has been reported in the civilian population ranging from 0.4% to 7%. Veterans compose a special population exposed to trauma and stressful situations and consequently face increased risk for habit-forming behavior and drug overdose. This evaluation determined the prevalence of opioid persistence after surgery and its relationship to patient characteristics in a military veteran population. METHODS: A retrospective chart review was completed on 1,257 veterans who were opioid naive and had undergone a surgical procedure between January 2017 and May 2018. Patient characteristics, health conditions, and discharge opioid medications were recorded, and the incidence of persistent opioid use beyond 90 days was determined. RESULTS: The incidence of opioid persistence following major (3.3%) and minor (3.4%) procedures was similar. The incidence in patients younger than 45 years (3.3%), between 45 and 64 years (4.3%), and 65 years and older (2.2%) was also determined to be similar. Univariate patient factors associated with an increased risk for persistent opioid use include cancer (odds ratio [OR], 2.13; 95% CI, 1.11-4.09), mental health disorders (OR, 2.32; 95% CI, 1.17-4.60), and substance use disorders (OR, 2.09; 95% CI, 1.09-4.00). CONCLUSIONS: Among a cohort of over 1,200 opioid-naïve veterans undergoing surgery at a VA Medical Center, just over 3% went on to develop persistent opioid use beyond 3 months following their procedure. Persistent use was not found to be related to the type of procedure (major or minor) or patient age. Significant patient-level risk factors for opioid persistence were cancer and a history of mental health and substance use disorders.

15.
Mol Genet Genomic Med ; 8(10): e1439, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32767738

RESUMEN

BACKGROUND: Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services. Exome sequencing has been successfully applied in a diagnostic setting, but most clinical exome referrals are pediatric patients, with many adults with ID lacking a comprehensive genetic evaluation. METHODS: Our unique recruitment strategy involved partnering with service and education providers for individuals with ID. We performed exome sequencing and analysis, and clinical variant interpretation for each recruited family. RESULTS: All five families enrolled in the study opted-in for the return of genetic results. In three out of five families exome sequencing analysis identified pathogenic or likely pathogenic variants in KANSL1, TUSC3, and MED13L genes. Families discussed the results and any potential medical follow-up in an appointment with a board certified clinical geneticist. CONCLUSION: Our study suggests high yield of exome sequencing as a diagnostic tool in adult patients with ID who have not undergone comprehensive sequencing-based genetic testing. Research studies including an option of return of results through a genetic clinic could help minimize the disparity in exome diagnostic testing between pediatric and adult patients with ID.


Asunto(s)
Secuenciación del Exoma/métodos , Pruebas Genéticas/métodos , Discapacidad Intelectual/genética , Selección de Paciente , Adulto , Femenino , Pruebas Genéticas/normas , Humanos , Vida Independiente , Discapacidad Intelectual/diagnóstico , Masculino , Complejo Mediador/genética , Proteínas de la Membrana/genética , Proteínas Nucleares/genética , Sensibilidad y Especificidad , Proteínas Supresoras de Tumor/genética , Secuenciación del Exoma/normas
16.
WMJ ; 119(4): 248-252, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33428834

RESUMEN

INTRODUCTION: During recent months, reports describing the characteristics of COVID-19 patients in China, Italy, and the United States have been published. Military veterans represent another unique population affected by COVID-19. This report summarizes the demographics and baseline clinical comorbidities in veterans testing positive for COVID-19 in Milwaukee, Wisconsin. METHODS: Patient evaluations were conducted at the Zablocki VA Medical Center, Milwaukee, Wisconsin between March 11, 2020 and June 1, 2020. Patient demographics, baseline comorbidities, home medications, presenting symptoms, and outcomes were obtained via electronic medical record. RESULTS: Ninety-five patients (88 men, 7 women) tested positive for COVID-19 and were evaluated. Fourteen required mechanical ventilation; 50 and 31 patients were treated in the hospital without ventilation or were discharged to home isolation, respectively. Discharged patients were younger than patients hospitalized. Most patients with COVID-19 were African American (63.2%). Patients whose disease progressed to mechanical ventilation had, on admission, more dyspnea, higher heart and respiratory rates, and lower oxygen saturation than other patients. COVID-19 patients who required mechanical ventilation had a longer length of stay and higher mortality than other groups and were more likely to have a history of hypertension and hyperlipidemia than patients who were discharged to home quarantine (85.7% and 78.6% vs 48.4% and 45.2%, respectively; P < 0.05 for each). CONCLUSION: COVID-19-positive veterans are predominantly African American men with hypertension and hyperlipidemia receiving beta blockers or ACEi/ARB. COVID-19-positive veterans who presented with dyspnea, tachypnea, tachycardia, and hypoxemia were more likely to require endotracheal intubation and mechanical ventilation, had longer hospital length-of-stay, and experienced greater mortality than comparison groups.


Asunto(s)
COVID-19/terapia , Veteranos , Adulto , Anciano , COVID-19/epidemiología , Comorbilidad , Femenino , Hospitales de Veteranos , Humanos , Masculino , Persona de Mediana Edad , Pandemias , Estados Unidos/epidemiología , Wisconsin/epidemiología
17.
Genome Biol Evol ; 12(7): 1099-1188, 2020 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-32442304

RESUMEN

The tremendous diversity of Hymenoptera is commonly attributed to the evolution of parasitoidism in the last common ancestor of parasitoid sawflies (Orussidae) and wasp-waisted Hymenoptera (Apocrita). However, Apocrita and Orussidae differ dramatically in their species richness, indicating that the diversification of Apocrita was promoted by additional traits. These traits have remained elusive due to a paucity of sawfly genome sequences, in particular those of parasitoid sawflies. Here, we present comparative analyses of draft genomes of the primarily phytophagous sawfly Athalia rosae and the parasitoid sawfly Orussus abietinus. Our analyses revealed that the ancestral hymenopteran genome exhibited traits that were previously considered unique to eusocial Apocrita (e.g., low transposable element content and activity) and a wider gene repertoire than previously thought (e.g., genes for CO2 detection). Moreover, we discovered that Apocrita evolved a significantly larger array of odorant receptors than sawflies, which could be relevant to the remarkable diversification of Apocrita by enabling efficient detection and reliable identification of hosts.


Asunto(s)
Especiación Genética , Genoma de los Insectos , Interacciones Huésped-Parásitos/genética , Himenópteros/genética , Secuencia de Aminoácidos , Animales , Secuencia Conservada , Elementos Transponibles de ADN , Femenino , Dosificación de Gen , Glicoproteínas/genética , Herbivoria/genética , Inmunidad/genética , Proteínas de Insectos/genética , Masculino , Familia de Multigenes , Receptores Odorantes/genética , Conducta Social , Visión Ocular/genética
18.
Genome Biol ; 21(1): 15, 2020 01 23.
Artículo en Inglés | MEDLINE | ID: mdl-31969194

RESUMEN

BACKGROUND: Arthropods comprise the largest and most diverse phylum on Earth and play vital roles in nearly every ecosystem. Their diversity stems in part from variations on a conserved body plan, resulting from and recorded in adaptive changes in the genome. Dissection of the genomic record of sequence change enables broad questions regarding genome evolution to be addressed, even across hyper-diverse taxa within arthropods. RESULTS: Using 76 whole genome sequences representing 21 orders spanning more than 500 million years of arthropod evolution, we document changes in gene and protein domain content and provide temporal and phylogenetic context for interpreting these innovations. We identify many novel gene families that arose early in the evolution of arthropods and during the diversification of insects into modern orders. We reveal unexpected variation in patterns of DNA methylation across arthropods and examples of gene family and protein domain evolution coincident with the appearance of notable phenotypic and physiological adaptations such as flight, metamorphosis, sociality, and chemoperception. CONCLUSIONS: These analyses demonstrate how large-scale comparative genomics can provide broad new insights into the genotype to phenotype map and generate testable hypotheses about the evolution of animal diversity.


Asunto(s)
Artrópodos/genética , Evolución Molecular , Animales , Artrópodos/clasificación , Metilación de ADN , Especiación Genética , Variación Genética , Filogenia
19.
Genome Biol ; 20(1): 64, 2019 04 02.
Artículo en Inglés | MEDLINE | ID: mdl-30935422

RESUMEN

BACKGROUND: The Hemiptera (aphids, cicadas, and true bugs) are a key insect order, with high diversity for feeding ecology and excellent experimental tractability for molecular genetics. Building upon recent sequencing of hemipteran pests such as phloem-feeding aphids and blood-feeding bed bugs, we present the genome sequence and comparative analyses centered on the milkweed bug Oncopeltus fasciatus, a seed feeder of the family Lygaeidae. RESULTS: The 926-Mb Oncopeltus genome is well represented by the current assembly and official gene set. We use our genomic and RNA-seq data not only to characterize the protein-coding gene repertoire and perform isoform-specific RNAi, but also to elucidate patterns of molecular evolution and physiology. We find ongoing, lineage-specific expansion and diversification of repressive C2H2 zinc finger proteins. The discovery of intron gain and turnover specific to the Hemiptera also prompted the evaluation of lineage and genome size as predictors of gene structure evolution. Furthermore, we identify enzymatic gains and losses that correlate with feeding biology, particularly for reductions associated with derived, fluid nutrition feeding. CONCLUSIONS: With the milkweed bug, we now have a critical mass of sequenced species for a hemimetabolous insect order and close outgroup to the Holometabola, substantially improving the diversity of insect genomics. We thereby define commonalities among the Hemiptera and delve into how hemipteran genomes reflect distinct feeding ecologies. Given Oncopeltus's strength as an experimental model, these new sequence resources bolster the foundation for molecular research and highlight technical considerations for the analysis of medium-sized invertebrate genomes.


Asunto(s)
Evolución Molecular , Genoma de los Insectos , Hemípteros/genética , Secuencia de Aminoácidos , Animales , Dedos de Zinc CYS2-HIS2 , Conducta Alimentaria , Dosificación de Gen , Perfilación de la Expresión Génica , Transferencia de Gen Horizontal , Genes Homeobox , Hemípteros/crecimiento & desarrollo , Hemípteros/metabolismo , Pigmentación/genética , Olfato , Factores de Transcripción/genética
20.
Nat Ecol Evol ; 2(3): 557-566, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29403074

RESUMEN

Around 150 million years ago, eusocial termites evolved from within the cockroaches, 50 million years before eusocial Hymenoptera, such as bees and ants, appeared. Here, we report the 2-Gb genome of the German cockroach, Blattella germanica, and the 1.3-Gb genome of the drywood termite Cryptotermes secundus. We show evolutionary signatures of termite eusociality by comparing the genomes and transcriptomes of three termites and the cockroach against the background of 16 other eusocial and non-eusocial insects. Dramatic adaptive changes in genes underlying the production and perception of pheromones confirm the importance of chemical communication in the termites. These are accompanied by major changes in gene regulation and the molecular evolution of caste determination. Many of these results parallel molecular mechanisms of eusocial evolution in Hymenoptera. However, the specific solutions are remarkably different, thus revealing a striking case of convergence in one of the major evolutionary transitions in biological complexity.


Asunto(s)
Blattellidae/genética , Evolución Molecular , Genoma , Isópteros/genética , Conducta Social , Animales , Evolución Biológica , Blattellidae/fisiología , Isópteros/fisiología , Filogenia
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