294 research outputs found
Nutritional management of a critically injured patient
A 28-year-old male patient was admitted with a gunshot wound in the abdomen. The gunshot wound was on the right iliac fossa, just above the right iliac crest, with no exit wound. The patient suffers from asthma and has a history of smoking.Keywords: nutritional management, critically injured patien
Neurologic outcome after penetrating extracranial arterial trauma
AbstractPurposeWe undertook this study to determine factors that adversely affect outcome in patients with penetrating injury to the extracranial cerebral vasculature.Patients and methodsMedical records were reviewed for all patients who had undergone surgical intervention to treat penetrating injury to the extracranial cerebral arteries between January 1989 and December 1999. Forensic autopsy findings were also reviewed for all patients who died as a result of their injury.ResultsOne hundred fifty-one patients with injury to the brachiocephalic artery (n = 21), common carotid artery (n = 98), or internal carotid artery (n = 32) were identified. Overall mortality was 21.2%, and stroke rate in surviving patients was 15.1%. Twenty-five of 32 deaths (78.1%) were stroke-related. Brachiocephalic artery injury was associated with the highest mortality (38.1%), and survivor stroke rate was highest in patients with internal carotid injuries (22.7%). Hemodynamic instability at presentation led to both higher mortality (30.7%) and stroke rate (19.2%). Preoperative angiography did not influence mortality or stroke rate in hemodynamically stable patients. Procedural mortality associated with arterial ligation was 45% (9 of 20 patients), and no surviving patient experienced a change in pre-ligation neurologic state. Nine patients remained neurologically intact after ligation, and 2 patients with preoperative localized neurologic deficit were unchanged postoperatively. In 131 patients, mortality after arterial repair was 17.6%, and in 5 surviving patients (5.4%) an ischemic neurologic deficit developed. Twelve of 15 surviving patients (80%) with preoperative neurologic deficit who underwent arterial repair had improved neurologic status. Cerebral infarcts were confirmed at autopsy in 23 patients; 18 infarcts were ischemic (10, repair; 8, ligation), and 5 infarcts were hemorrhagic (all, repair). No factor was identified that was predictive of ischemic versus hemorrhagic infarction in patients undergoing repair.ConclusionsThe presence of hypovolemic shock, internal carotid artery injury, complete vessel transection, and arterial ligation are associated with unfavorable outcome. Penetrating injury to the brachiocephalic, common carotid, or internal carotid artery should be repaired rather than ligated when technically possible. Subsequent ischemic or hemorrhagic cerebral infarction is unpredictable, but overall outcome is superior to that with ligation of the injured artery
The DNA methylome of human sperm is distinct from blood with little evidence for tissue-consistent obesity associations
Epidemiological research suggests that paternal obesity may increase the risk of fathering small for gestational age offspring. Studies in non-human mammals indicate that such associations could be mediated by DNA methylation changes in spermatozoa that influence offspring development in utero. Human obesity is associated with differential DNA methylation in peripheral blood. It is unclear, however, whether this differential DNA methylation is reflected in spermatozoa. We profiled genome-wide DNA methylation using the Illumina MethylationEPIC array in a cross-sectional study of matched human blood and sperm from lean (discovery n = 47; replication n = 21) and obese (n = 22) males to analyse tissue covariation of DNA methylation, and identify obesity-associated methylomic signatures. We found that DNA methylation signatures of human blood and spermatozoa are highly discordant, and methylation levels are correlated at only a minority of CpG sites (~1%). At the majority of these sites, DNA methylation appears to be influenced by genetic variation. Obesity-associated DNA methylation in blood was not generally reflected in spermatozoa, and obesity was not associated with altered covariation patterns or accelerated epigenetic ageing in the two tissues. However, one cross-tissue obesity-specific hypermethylated site (cg19357369; chr4:2429884; P = 8.95 × 10^{-8}; 2% DNA methylation difference) was identified, warranting replication and further investigation. When compared to a wide range of human somatic tissue samples (n = 5,917), spermatozoa displayed differential DNA methylation across pathways enriched in transcriptional regulation. Overall, human sperm displays a unique DNA methylation profile that is highly discordant to, and practically uncorrelated with, that of matched peripheral blood. We observed that obesity was only nominally associated with differential DNA methylation in sperm, and therefore suggest that spermatozoal DNA methylation is an unlikely mediator of intergenerational effects of metabolic traits
Access to influenza immunisation services by HIV positive patients in the UK.
Influenza is an important cause of morbidity in HIV positive adults, who may be more susceptible and more likely to develop severe disease.(1,2) Annual influenza immunisation is recommended for all HIV positive adults in the UK, supported by British HIV Association (BHIVA) guidelines,(1) with evidence for reasonably good uptake (3). HIV services do not receive specific funding to provide immunisation; and the National Flu Immunisation Programme offers this instead via Primary Care and pharmacies.(4) Whether this meets the needs of people living with HIV has not been evaluated. This article is protected by copyright. All rights reserved
A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays
Analysing pooled DNA on microarrays is an efficient way to genotype hundreds of individuals for thousands of markers for genome-wide association. Although direct comparison of case and control fluorescence scores is possible, correction for differential hybridization of alleles is important, particularly for rare single nucleotide polymorphisms. Such correction relies on heterozygous fluorescence scores and requires the genotyping of hundreds of individuals to obtain sufficient estimates of the correction factor, completely negating any benefit gained by pooling samples. We explore the effect of differential hybridization on test statistics and provide a solution to this problem in the form of a central resource for the accumulation of heterozygous fluorescence scores, allowing accurate allele frequency estimation at no extra cost
Leadership and early strategic response to the SARS-CoV-2 pandemic at a COVID-19 designated hospital in South Africa
While many countries are preparing to face the COVID-19 pandemic, the reported cases in Africa remain low. With a high burden of both communicable and non-communicable disease and a resource-constrained public healthcare system, sub-Saharan Africa is preparing for the coming crisis as best it can. We describe our early response as a designated COVID-19 provincial hospital in Cape Town, South Africa (SA).While the first cases reported were related to international travel, at the time of writing there was evidence of early community spread. The SAgovernment announced a countrywide lockdown from midnight 26 March 2020 to midnight 30 April 2020 to stem the pandemic and save lives. However, many questions remain on how the COVID-19 threat will unfold in SA, given the significant informal sector overcrowding and poverty in our communities. There is no doubt that leadership and teamwork at all levels is critical in influencing outcomes
Differential methylation of the TRPA1 promoter in pain sensitivity
Chronic pain is a global public health problem, but the underlying molecular mechanisms are not fully understood. Here we examine genome-wide DNA methylation, first in 50 identical twins discordant for heat pain sensitivity and then in 50 further unrelated individuals. Whole-blood DNA methylation was characterized at 5.2 million loci by MeDIP sequencing and assessed longitudinally to identify differentially methylated regions associated with high or low pain sensitivity (pain DMRs). Nine meta-analysis pain DMRs show robust evidence for association (false discovery rate 5) with the strongest signal in the pain gene TRPA1 (P=1.2 �? 10(-13)). Several pain DMRs show longitudinal stability consistent with susceptibility effects, have similar methylation levels in the brain and altered expression in the skin. Our approach identifies epigenetic changes in both novel and established candidate genes that provide molecular insights into pain and may generalize to other complex traits
Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits
Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although the aetiology of ASD has a strong genetic component, there is considerable monozygotic (MZ) twin discordance indicating a role for non-genetic factors. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs provide an ideal model for examining the contribution of environmentally driven epigenetic factors in disease. We performed a genome-wide analysis of DNA methylation in a sample of 50 MZ twin pairs (100 individuals) sampled from a representative population cohort that included twins discordant and concordant for ASD, ASD-associated traits and no autistic phenotype. Within-twin and between-group analyses identified numerous differentially methylated regions associated with ASD. In addition, we report significant correlations between DNA methylation and quantitatively measured autistic trait scores across our sample cohort. This study represents the first systematic epigenomic analyses of MZ twins discordant for ASD and implicates a role for altered DNA methylation in autism
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