“Precision medicine”

PURPOSE: We introduce an automated, quantitative image analysis package for gamma camera and single photon emission computed tomography quality control. Our focus was to produce consistent methods that are feasible in clinical settings and use standard phantoms. METHODS: Four gamma cameras were used to acquire planar images of four-quadrant bar phantoms and projection views of an American College of Radiology (ACR) phantom as part of a standard gamma camera quality control program...

BACKGROUND: In population-based research exome sequencing, the path from variant discovery to return of results is not well established. Variants discovered by research exome sequencing have the potential to improve population health. METHODS: Population-based exome sequencing and agnostic ExWAS were performed 5521 Amish individuals. Additional phenotyping and in vitro studies enabled reclassification of a KCNQ1 variant from variant of unknown significance to pathogenic...

In recent years, deep learning has provided a new method for cancer prognosis analysis. The literatures related to the application of deep learning in the prognosis of cancer are summarized and their advantages and disadvantages are analyzed, which can be provided for in-depth research. Based on this, this paper systematically reviewed the latest research progress of deep learning in the construction of cancer prognosis model, and made an analysis on the strengths and weaknesses of relevant methods. Firstly, the construction idea and performance evaluation index of deep learning cancer prognosis model were clarified...

There are various examination methods for cardiovascular diseases. Non-invasive diagnosis and prognostic information acquisition are the current research hotspots of related imaging examinations. Positron emission tomography (PET)/magnetic resonance imaging (MRI) is a new advanced fusion imaging technology that combines the molecular imaging of PET with the soft tissue contrast function of MRI to achieve their complementary advantages. This article briefly introduces several major aspects of cardiac PET/MRI in the diagnosis of cardiovascular disease, including atherosclerosis, ischemic cardiomyopathy, nodular heart disease, and myocardial amyloidosis, in order to promote cardiac PET/MRI to be more widely used in precision medicine in this field...

BACKGROUND: With the "Artemis"-mission mankind will return to the Moon by 2024. Prolonged periods in space will not only present physical and psychological challenges to the astronauts, but also pose risks concerning the medical treatment capabilities of the crew. So far, no guideline exists for the treatment of severe medical emergencies in microgravity. We, as a international group of researchers related to the field of aerospace medicine and critical care, took on the challenge and developed a an evidence-based guideline for the arguably most severe medical emergency - cardiac arrest...

Precision medicine is a field with huge potential for improving a patient's quality of life, wherein therapeutic drug monitoring (TDM) can provide actionable insights. More importantly, incorrect drug dose is a common contributor to medical errors. However, current TDM practice is time-consuming and expensive, and requires specialised technicians. One solution is to use electrochemical biosensors (ECBs), which are inexpensive, portable, and highly sensitive. In this review, we explore the potential for ECBs as a technology for on-demand drug monitoring, including microneedles, continuous monitoring, synthetic biorecognition elements, and multi-material electrodes...

Transcription factors (TFs) are major contributors to cancer risk and somatic development. In preclinical and clinical studies, direct or indirect inhibition of TF-mediated oncogenic gene expression profiles have proven to be effective in many tumor types, highlighting this group of proteins as valuable therapeutic targets. In spite of this, our understanding of TFs in epithelial ovarian cancer (EOC) is relatively limited. EOC is a heterogeneous disease composed of five major histologic subtypes; high-grade serous, low-grade serous, endometrioid, clear cell and mucinous...

Biomedical research is increasingly capitalizing on an array of data to illuminate the interplay between "omics," lifestyle, and health. Leveraging this information presents opportunities to advance knowledge but also poses risks to research participants. In interviews with thought leaders, we asked which data type associated with a hypothetical precision medicine research endeavor was riskiest: 42% chose ongoing access to electronic health records, 17% chose genomic analyses of biospecimens, and 15% chose streaming data from mobile devices...

At present, proteomic methods have successfully identified potential biomarkers of urological malignancies, such as prostate cancer (PC), bladder cancer (BC), and renal cell carcinoma (RCC), reflecting different numbers of key cellular processes, including extracellular environment modification, invasion and metastasis, chemotaxis, differentiation, metabolite transport, and apoptosis. The potential application of proteomics in the detection of clinical markers of urological malignancies can help improve patient assessment through early cancer detection, prognosis, and treatment response prediction...

Veratrum nigrum L. is a well-known traditional Chinese medicine with a lot of pharmacological activities including antihypertensive, anticancer, and antifungal effects. In the current experiment, a rapid and sensitive UPLC-MS/MS method that takes only 7 min run time has been established and validated for simultaneous determination of eight bioactive compounds including cyclopamine, jervine, veratramine, polydatin, quercetin, apigenin, resveratrol, and veratrosine in rat plasma. The chromatographic separation of analytes and internal standard was performed on a Phenyl-Hexyl column (2...

Philadelphia-like (Ph-like) acute lymphoblastic leukemia (ALL) is a high-risk subtype of B cell ALL. It accounts for 20% of all B cell ALL cases and is similar to BCR-ABL1 in gene expression profile but lacks BCR-ABL fusion. It is highly heterogeneous and is characterized by genetic alterations that activate kinase and cytokine receptor signaling. Most of these alterations are amenable to tyrosine kinase inhibitors. Ph-like ALL is prevalent in pediatric and young adults, more common in males, and frequently seen in patients with Hispanic ancestry...

Psoriatic arthritis (PsA) is a chronic inflammatory condition with articular and extra-articular manifestations: peripheral arthritis, axial disease, enthesitis, dactylitis, psoriasis, inflammatory bowel disease and uveitis. Anti-tumour necrosis factors (anti-TNFs) have demonstrated clinical efficacies exceeding those of conventional disease-modifying antirheumatic drugs (DMARDs). New understanding in pathogenic pathways have led to novel therapeutic targets. The current treatment paradigms emphasize early diagnosis and treatment, and treating towards remission and low disease activity status, particularly in long-standing disease...

Gene-environment interaction is a key part of evolutionary biology, animal, and plant breeding, and a number of health sciences, like epidemiology and precision medicine. However, bottlenecks in models of gene-environment interaction have recently been made manifest, particularly in the field of medicine and, consequently, specific improvements have been explicitly requested-namely, an implementation of gene-environment interaction satisfactorily disentangled from gene-environment correlation. The present paper meets those demands by providing mathematical developments that implement classical models of genetic effects and bring them up to date with the prospects current available data bestow...

This narrative review describes an overview of the multiple effects of methylphenidate (MPH) in attention-deficit/hyperactivity disorder (ADHD) and its potential neurobiological targets. It addressed the following aspects: 1) MPH effects on attention and executive functions in ADHD; 2) the relation between MPH efficacy and dopamine transporter gene (DAT) polymorphism; and 3) the role of MPH as an epigenetic modulator in ADHD. Literature analysis showed that MPH, the most commonly used psychostimulant in the therapy of ADHD, acts on multiple components of the disorder...

Genome-wide analyses of common and rare genetic variations have documented the heritability of major psychiatric disorders, established their highly polygenic genetic architecture, and identified hundreds of contributing variants. In recent years, these studies have illuminated another key feature of the genetic basis of psychiatric disorders: the important role and pervasive nature of pleiotropy. It is now clear that a substantial fraction of genetic influences on psychopathology transcend clinical diagnostic boundaries...

The focus of this article is to review the available funding opportunities for the nephrology workforce at all career levels and review the current challenges involved in the career of a physician-scientist. While the scarcity of nephrology fellows for training programs is a continuing challenge, increased funding for the National Institutes of Health is encouraging particularly for early career investigators. In addition to National Institutes of Health funding, other funding sources are also discussed as they provide much needed bridge funding during key transition periods for young careers...

ATP-binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP-dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease pseudoxanthoma elasticum (PXE). Since then, the physiological and pathological roles of ABCC6 have been the subject of intense research. In the last 20 years, significant findings have clarified ABCC6 structure as well as its physiological role in mineralization homeostasis in humans and animal models...

With the development and diversification of medical care, the importance of precision medicine, which selects a suitable treatment for the individual patient from a huge number of options, is increasing. It is often difficult to explain multifactorial diseases such as cancer and chronic inflammatory diseases by a single hypothesis. In such case, a data-driven approach is essential to construct individualized models based on comprehensive observation of the target disease. The data-driven approach utilizes artificial intelligence to extract, predict, and classify patterns of data, considering different types of variables and complex dependencies between variables...

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INTRODUCTION: Atrial fibrillation (AF) is the most common form of cardiac arrhythmia and is associated with a number of comorbidities such as coronary artery disease and heart failure. While physical activity is already implemented in current international guidelines for the prevention and treatment of AF, the precise role of different types of exercise in the management of AF remains to be elucidated. The primary aim of the Cologne ExAfib Trial is to assess the feasibility and safety of different exercise modes in patients diagnosed with paroxysmal AF...