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  • King MacKenzie posted an update 3 days, 8 hours ago

    We utilized 2300 wheat accessions including worldwide landraces, cultivars and primary synthetic-derived germplasm with three Australian cultivars Annuello, Yitpi and Correll, to investigate field-based resistance to leaf (Lr) rust, stem (Sr) rust and stripe (Yr) rust diseases across a range of Australian wheat agri-production zones. Generally, the resistance in the modern Australian cultivars, synthetic derivatives, South and North American materials outperformed other geographical subpopulations. Different environments for each trait showed significant correlations, with average r values of 0.53, 0.23 and 0.66 for Lr, Sr and Yr, respectively. Single-trait genome-wide association studies (GWAS) revealed several environment-specific and multi-environment quantitative trait loci (QTL). Multi-trait GWAS confirmed a cluster of Yr QTL on chromosome 3B within a 4.4-cM region. Linkage disequilibrium and comparative mapping showed that at least three Yr QTL exist within the 3B cluster including the durable rust resistance gene Yr30. An Sr/Lr QTL on chromosome 3D was found mainly in the synthetic-derived germplasm from Annuello background which is known to carry the Agropyron elongatum 3D translocation involving the Sr24/Lr24 resistance locus. Interestingly, estimating the SNP effects using a BayesR method showed that the correlation among the highest 1% of QTL effects across environments (excluding GWAS QTL) had significant correlations, with average r values of 0.26, 0.16 and 0.55 for Lr, Sr and Yr, respectively. These results indicate the importance of small effect QTL in achieving durable rust resistance which can be captured using genomic selection.Clinical tumor sequencing protocols often depend on obtaining germline DNA from patients to aid in the identification of de novo variants in the tumor, and therefore come with the possibility for the incidental discovery of germline variants. Ninety-one adult patients with lymphoma were consented and enrolled in MIONCOSEQ, an IRB-approved tumor profiling protocol that utilizes an exome sequencing platform. Charts were retrospectively reviewed for germline variants from sequencing results, personal and/or family history of cancer and genetic counseling referral. After review of the 91 lymphoma cases, seven (8%) cases revealed germline variants. Only one of these, CHEK2 p.I157T, has been previously recovered as a germline variant in lymphoma. Two of the seven patients received genetic counseling, two died before genetic counseling could be arranged and three did not follow-up with a genetics provider. None of the patients had a personal or family history that would have otherwise suggested an indication for cancer genetics referral, especially notable as lymphoma is not traditionally associated with inherited cancer syndromes. Importantly, as only two of seven patients had appropriate genetic counseling for their variant, timely genetic counseling should be a critical part of all tumor profiling platforms that use non-tumor DNA.Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. see more In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. We report two Danish patients with STK11 mosaicism detected in blood when using Next-Generation Sequencing. This is only the sixth and seventh patient reported in the literature, and we compare phenotypes of the reported cases. The results indicate that STK11 mosaicism is more frequent than anticipated and highlight that mosaicism should be considered in patients with clinical suspicion of PJS or patients fulfilling the diagnostic criteria.Management of patients presenting with suspected stable coronary artery disease (CAD) are challenging because estimation of pretest probability for obstructive CAD remains difficult. In addition, identification of those who benefit from coronary revascularization remains ineffective regardless of the wide array of noninvasive testing alternatives available. Functional testing, which has long been considered to be the test of choice to risk stratify these patients, shows modest agreement with CAD severity detected by invasive coronary angiography and has been reported to be ineffective in settings of low prevalence of obstructive CAD. A growing body of evidence demonstrates the excellent diagnostic accuracy as well as prognostic value of coronary computed tomography (CT) angiography especially in conjunction with noninvasive fractional flow reserve (FFR) testing, challenging the primary role of functional testing especially in patients without prior or known CAD. Landmark trials, including the Prospective Multicenter Imaging Study for Evaluation of chest pain (PROMISE) and Scottish Computed Tomography of the Heart (SCOT-HEART), have contributed to a better understanding of how coronary CT angiography may play a role in more efficient management and even improved health outcomes. The emerging role of coronary CT has been acknowledged by the 2019 Guidelines of the European Society of Cardiology recommending the use of CT as a first-line tool for the evaluation of patients with stable chest pain with a class I, level of evidence B recommendation. The purpose of this article is to provide an overview on existing evidence, clinical implication, limitations of available data, and remaining questions to be answered by future research.Purpose Immediate recurrent laryngeal nerve (RLN) reconstruction at the time of thyroid cancer extirpation can provide excellent postoperative phonatory function. This study is to present our experience with the methods of RLN reconstruction, and to evaluate the role of selective vagus to RLN anastomosis (SVR) in thyroidectomy. Methods Respective review of RLN reconstruction in thyroid surgery from January 2004 to October 2018 was conducted in two tertiary referral academic medical centers. Immediate RLN reconstruction was performed for primary thyroidectomy patients with intraoperative nerve tumor invasion or iatrogenic transection. Laryngofiberoscopic examination, voice evaluation of maximum phonation time, and GRBAS scale were performed preoperatively, on the second day after surgery, and monthly postoperatively for the first year. Results A total of 37 patients were enrolled. Twenty-nine RLNs were resected caused by tumor-associated trauma; the other nerves were inadvertently transected. Direct anastomosis (DA) was performed in eight patients, free nerve graft (FNG) was performed in four patients, ansa cervicalis to RLN anastomosis (ARA) was performed in eight patients, and SVR was performed in 17 patients.

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