Notes

Artificial Data throughout Quantitative Encoding Probe Microscopy.
HCA should be undertaken using population-based incidence.
Germline CNVs are important contributors to hereditary cancer. In genetic diagnostics, multiplex ligation-dependent probe amplification (MLPA) is commonly used to identify them. However, MLPA is time-consuming and expensive if applied to many genes, hence many routine laboratories test only a subset of genes of interest.

We evaluated a next-generation sequencing (NGS)-based CNV detection tool (DECoN) as first-tier screening to decrease costs and turnaround time and expand CNV analysis to all genes of clinical interest in our diagnostics routine. We used DECoN in a retrospective cohort of 1860 patients where a limited number of genes were previously analysed by MLPA, and in a prospective cohort of 2041 patients, without MLPA analysis. In the retrospective cohort, 6 new CNVs were identified and confirmed by MLPA. MYCi361 In the prospective cohort, 19 CNVs were identified and confirmed by MLPA, 8 of these would have been lost in our previous MLPA-restricted detection strategy. Also, the number of genes tested by MLPA across all samples decreased by 93.0% in the prospective cohort.

Including an in silico germline NGS CNV detection tool improved our genetic diagnostics strategy in hereditary cancer, both increasing the number of CNVs detected and reducing turnaround time and costs.
Including an in silico germline NGS CNV detection tool improved our genetic diagnostics strategy in hereditary cancer, both increasing the number of CNVs detected and reducing turnaround time and costs.
Pheochromocytomas and paragangliomas (PPGLs) are catecholamine-producing neuroendocrine tumours. PPGLs are a rare but important cause of secondary hypertension owing to their high morbidity and mortality. Patients with PPGL exhibit an increased prevalence of mutations in one of the PPGL susceptibility genes according to previous studies. We aimed to investigate the characteristics of germline mutations in the largest number of Korean patients with PPGL.

In this study, 161 patients with PPGL were evaluated. Phenotype data, including biochemical, pathological and anatomical imaging results, were collected. Germline mutations in 10 PPGL-related genes were tested by targeted next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification.

Approximately 21% of apparently sporadic PPGLs harboured germline mutations of the PPGL-related genes. The mutation carriers were younger at the first diagnosis and had more bilateral (28.6% vs 4.0%, p<0.001) and multifocal (11.4% vs 1.6%, p=0.027) PPGLs, but showed no metastatic risk (17.1% vs 11.1%, p=0.504), than non-mutation carriers. Missense mutation of
p.V111I was found in this cohort of Asian patients, which was associated with unilateral pheochromocytoma with dominantly epinephrine production.

This study covered the largest number of Korean patients with PPGL. To our knowledge, it is the first to compare results of targeted NGS panel with those of conventional sequencing methods in Asia. We demonstrated that the variant type, as well as the mutated gene, may determine the phenotype and prognosis of PPGLs.
This study covered the largest number of Korean patients with PPGL. To our knowledge, it is the first to compare results of targeted NGS panel with those of conventional sequencing methods in Asia. We demonstrated that the variant type, as well as the mutated gene, may determine the phenotype and prognosis of PPGLs.
International organisations recommend the inclusion of palliative care undergraduate education as a way to meet increasing demand; the long-term effects, however, are unknown. Since 2013 the Dr José Matías Delgado University has offered an undergraduate course for palliative care.

To assess whether a palliative care course results in improvement in self-perceived comfort among students and if it lasts up to 4 years later; and to examine students' knowledge of palliative care and assess the relationship between comfort and knowledge.

This is a prospective cohort study where students attending the course were requested to complete the Scale of Self-Perceived Comfort in palliative care pre and post course. Participants were contacted in 2018 and a group without palliative care education was established as a control group, matched one-to-one according to current academic level. They were asked to complete the Scale of Self-Perceived Comfort questionnaire together with the Palliative Care Knowledge Test.

83 students who attended the course between the years 2014 and 2017 and 101 controls.

In the postcourse test, participants had a 1.13-point increase (p≤0.001) in comfort, which persisted 4 years later and was superior to the control group by 0.6 points (p≤0.001). The control group showed no difference in the precourse test despite having more clinical experience (p=0.68). The students outscored the control group in the knowledge test by 4.2 points (p≤0.001). There appears to be no correlation between comfort and knowledge.

A palliative care undergraduate course results in improvement in student comfort and knowledge which persists up to 4 years later.
A palliative care undergraduate course results in improvement in student comfort and knowledge which persists up to 4 years later.
Several studies have identified excess risk associated with undergoing simultaneous (compared with unilateral or staged) bilateral total knee arthroplasty (BTKA). However, few have addressed subsequent chronic opioid use. Given the substantial morbidity and mortality associated with prolonged opioid use, we evaluated the incidence of postoperative chronic opioid use following simultaneous versus staged BTKA, based on the different timing strategies of staged procedures.

In this retrospective cohort study, patients who underwent BTKA procedures (2012-2016; Truven Health MarketScan; n=14 407) were classified as having undergone simultaneous or staged BTKA (<3 months, 3-6 months or 6-12 months apart). Outcomes were postoperative chronic opioid use and oral morphine equivalents prescribed on discharge. Multivariable regression models measured associations between type/timing of BTKA and outcomes. ORs and 95% CIs were reported.

Unadjusted frequency of chronic opioid use did not differ between groups, (Simultaneous 11.
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