Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.

Aims: This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland.

Methods: Six genetic and genomic testing strategies were evaluated using a decision tree model. First-line, second-line and last-resort trio genome sequencing (GS), and second-line and last-resort trio exome sequencing (ES) were compared with standard genetic testing.

An Evidence-Based Review of the Safety and Efficacy of Remote Chemotherapy Verification.

In response to the nursing shortage and the emergence of telehealth opportunities, the Oncology Nursing Society used an evidence-based approach to examine current literature and trends for the two-person independent double ch.

Antibody-Drug Conjugates and Ocular Toxicity: Nursing, Patient, and Organizational Implications for Care.

Background: Antibody-drug conjugates (ADCs) are a novel class of drugs with rapidly expanding oncology indications across solid and hematologic malignancies.

Objectives: This article provides an overview of ADCs with a high risk of ocular reactions and guidance for oncology nurses to help mitigate risk and identify toxicities for prompt management.

Methods: This review presents updated evidence, manufacturer recommendations, and clinical guidance about three ADCs with a risk of overall ocular reactions exceeding 40%, as well as strategies to prepare patients for treatment, prevent reactions, and respond to presenting ocular toxicities.

An Evidence-Based Review of the Safety and Efficacy of Remote Chemotherapy Verification.

In response to the nursing shortage and the emergence of telehealth opportunities, the Oncology Nursing Society used an evidence-based approach to examine current literature and trends for the two-person independent double ch.

Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy.

Normal pregnancy (Norm-Preg) is associated with a slight reduction in blood pressure (BP) and decreased BP response to vasoconstrictor stimuli such as angiotensin II (Ang II), although the renin-angiotensin-aldosterone system (RAAS) is upregulated. Preeclampsia (PE) is a complication of pregnancy manifested as hypertension-in-pregnancy (HTN-Preg), and dysregulation of angiotensin biosynthesis and signaling have been implicated. Ang II activates vascular Ang II type-1 receptor (ATR) and Ang II type-2 receptor (ATR), while angiotensin-(1-7) promotes Ang-(1-7)/MasR signaling.

Effects of Adding Lean Red Meat to a U.S.-Style Healthy Vegetarian Dietary Pattern on Gut Microbiota and Cardiovascular Risk Factors in Young Adults: a Crossover Randomized Controlled Trial.

Background: Limited research evidence exists on the effects of red meat on gut microbiota in human adults.

Objective: We aim to assess the effects of consuming a Healthy U.S.

Meat Consumption and Gut Microbiota: a Scoping Review of Literature and Systematic Review of Randomized Controlled Trials in Adults.

Emerging research indicates the importance of gut microbiota in mediating the relationship between meat intake and human health outcomes. We aimed to assess the state of available scientific literature on meat intake and gut microbiota in humans (PROSPERO, International Prospective Register of Systematic Reviews, CRD42020135649). We first conducted a scoping review to identify observational and interventional studies on this topic.

Urinary bladder recurrences following ureteroscopic biopsies of upper tract urothelial cancers: a multi-centre observational study with genomic assessment for clonality.

Background And Aims: Urinary bladder recurrences (UBRs) after radical nephroureterectomy (RNUx) are a known challenge in patients with upper-tract urothelial cancers (UTUCs). We aim to assess factors associated with UBR and clonal-relatedness with resected UTUC.

Methods: Patients who underwent RNUx for UTUC between 1998 and 2015 in five institutions were identified.

Poultry Consumption and Human Health: How Much Is Really Known? A Systematically Searched Scoping Review and Research Perspective.

This scoping review was conducted to systematically search and chronicle scientific literature pertinent to poultry intake and human health. The protocol (uploaded to Open Science Framework, https://osf.io/2k7bj/) was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews guidelines.

Red and processed meat intakes and cardiovascular disease and type 2 diabetes mellitus: An umbrella systematic review and assessment of causal relations using Bradford Hill's criteria.

Observational research suggests higher red and processed meat intakes predict greater risks of developing or dying from cardiovascular diseases (CVD) and type 2 diabetes mellitus (T2DM), but this research limits causal inference. This systematic review of reviews utilizes both observational and experimental research findings to infer causality of these relations. Reviews from four databases were screened by two researchers.

An update on the safety of olaparib for treating ovarian cancer.

Introduction: PARP inhibitors have dramatically improved outcomes for ovarian cancer patients, transforming oncologists' armamentarium and fueling hope for more cures and longer survival.

Areas Covered: The recent PARP inhibitor randomized trials of FDA approved PARP inhibitors for ovarian cancer, olaparib, rucaparib and niraparib, and implications for clinical care are discussed with a focus on toxicity and risks. PARP adds NAD polymers to DNA-binding proteins, improving survival of cells after DNA damage, and acting as a scaffold for important DNA Damage Response (DDR) enzymes.

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.

Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study.

Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed.

Purpose: Oesophageal squamous cell carcinoma (ESCC) has a poor prognosis. Advanced tumours are treated with fluoropyrimidine/platinum chemotherapy followed by irinotecan or taxane monotherapy, but resistance is common and new treatments are needed. Approximately 20% of ESCCs carry copy number gain (CNG) of the epidermal growth factor receptor (EGFR) gene.

Effects of Total Red Meat Intake on Glycemic Control and Inflammatory Biomarkers: A Meta-Analysis of Randomized Controlled Trials.

Our objective was to conduct a systematic review and meta-analysis to assess the effects of total red meat (TRM) intake on glycemic control and inflammatory biomarkers using randomized controlled trials of individuals free from cardiometabolic disease. We hypothesized that higher TRM intake would negatively influence glycemic control and inflammation based on positive correlations between TRM and diabetes. We found 24 eligible articles (median duration, 8 weeks) from 1172 articles searched in PubMed, Cochrane, and CINAHL up to August 2019 that included 1) diet periods differing in TRM; 2) participants aged ≥19 years; 3) included either men or women who were not pregnant/lactating; 4) no diagnosed cardiometabolic disease; and 5) data on fasting glucose, insulin, HOMA-IR, glycated hemoglobin (HbA1c), C-reactive protein (CRP), or cytokines.

Aripiprazole Lauroxil NanoCrystal Dispersion Technology (Aristada Initio).

Nonadherence to antipsychotic medications for the treatment of schizophrenia is a widely recognized concern, leading to poorer clinical outcomes and higher treatment costs. Long-acting injectable (LAI) antipsychotics offer an extended dosing interval option for patients, although the current options may require an oral overlap at initiation. Aripiprazole lauroxil is an LAI that offers multiple dosing options but requires oral treatment overlap during initiation for the first 21 consecutive days.

Hypersensitivity Reactions: Priming Practice Change to Reduce Incidence in First-Dose Rituximab Treatment.

Background: Strategies to reduce hypersensitivity reaction (HSR) incidence with rituximab include premedications and slow titration. Literature is lacking on the priming method used when preparing rituximab IV lines and the potential impact on HSR incidence.

Objectives: The primary objective is to evaluate HSR incidence in titrated first-dose rituximab infusions when priming IV lines with rituximab, as compared to priming with diluent.

Combined linkage and association analysis of classical Hodgkin lymphoma.

The heritability of classical Hodgkin lymphoma (cHL) has yet to be fully deciphered. We report a family with five members diagnosed with nodular sclerosis cHL. Genetic analysis of the family provided evidence of linkage at chromosomes 2q35-37, 3p14-22 and 21q22, with logarithm of odds score >2.

HIV in Orthopaedic Surgery.

The emergence of HIV in the United States has had important implications in the surgical setting. This blood-borne pathogen poses risks to both the surgeon and the patient undergoing an orthopaedic procedure. Although there has been research regarding the likelihood of orthopaedic surgeons contracting HIV during a surgical procedure, the correlation of HIV with postoperative prognosis has not been extensively examined.

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer.

Purpose The Cancer Esophagus Gefitinib trial demonstrated improved progression-free survival with the epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor gefitinib relative to placebo in patients with advanced esophageal cancer who had disease progression after chemotherapy. Rapid and durable responses were observed in a minority of patients. We hypothesized that genetic aberration of the EGFR pathway would identify patients benefitting from gefitinib.

Disparity Implications of Proposed 2015 Medicare Eligibility Criteria for Medication Therapy Management Services.

Objectives: Previous studies found that racial and ethnic minorities may be less likely than non-Hispanic Whites (Whites) to meet existing Medicare medication therapy management (MTM) eligibility criteria. To address these issues, the Centers for Medicare & Medicaid Services (CMS) proposed alternative Medicare MTM eligibility criteria for 2015. Due to opposition to other Part D reforms proposed simultaneously by various stakeholders, CMS rescinded all proposed reforms.

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom National External Quality Assessment Scheme (UK NEQAS) for Molecular Genetics, we assessed the current variability in the use and interpretation of the guidelines by diagnostic laboratories based across the globe.