Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.

Finite clinical genetics services combined with expanding genomic testing have driven development of mainstreaming models-of-care for genomic testing: specifically genetic counselor embedded (GEM) and upskilled-clinician (UPC) models. To determine feasibility, acceptability, and health economic impact in cancer mainstreaming settings we conducted a scoping review of the literature. A comprehensive PubMed search identified relevant manuscripts, published in English between 2013 and 2023.

Utility of genomic testing in children, adolescents, and young adults with cancer.

Genomic testing can inform the diagnosis and personalise management of cancers in children, adolescents, and young adults (CAYA). This scoping review explored the clinical utility and impact of genomic testing in general CAYA cancer cohorts. Relevant records published in English between 2017-2024 were identified by searching PubMed.

Narrative therapy and family therapy in genetic counseling: A scoping review.

Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situations and may enhance the genetic counseling process. This scoping review aimed to describe the applications of narrative therapy and family therapy in genetic counseling, and to document the actual and perceived value of these approaches in a genetic counseling setting.

Targeted therapies in non-small cell lung cancer: present and future.

Lung cancer is the leading cause of malignancy-related death in the United States and the second most common cancer diagnosis worldwide. In the last two decades, lung cancer treatment has evolved to include advances in the development of mutation-based targeting, immunotherapy, radiation therapy, and minimally invasive surgical techniques. The discovery of lung cancer as a molecularly heterogeneous disease has driven investigation into the development of targeted therapies resulting in improved patient outcomes.

Glioblastoma in Patients With Multiple Sclerosis.

Background: Although rare, the co-occurrence of multiple sclerosis (MS) and glioma poses unique challenges in terms of diagnosis and management for both neurologists and neuro-oncologists.

Methods: Here we report on a single-center cohort of four patients with a diagnosis of multiple sclerosis who developed gliomas.

Results: Our cohort reflects the epidemiology of glioma in terms of the relative frequency of IDH-wildtype and IDH-mutant cases.

Preoperative antithrombotic treatment in acutely symptomatic carotid artery stenosis.

Objectives: Early recurrence of cerebral ischemia in acutely symptomatic carotid artery stenosis can precede revascularization. The optimal antithrombotic regimen for this high-risk population is not well established. Although antiplatelet agents are commonly used, there is limited evidence for the use of anticoagulants.

Professional regulation for Australasian genetic counselors.

As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Australasia (HGSA), a working party was convened. The purpose of the working party was to provide strategic leadership for the profession of Australasian genetic counselors with a goal to formalize a national regulatory framework for genetic counselors across both Australian and New Zealand jurisdictions.

Social determinants of health affecting treatment of pediatric brain tumors.

Objective: Little is understood about the role that health disparities play in the treatment and management of brain tumors in children. The purpose of this study was to determine if health disparities impact the timing of initial and follow-up care of patients, as well as overall survival.

Methods: The authors conducted a retrospective study of pediatric patients (< 18 years of age) previously diagnosed with, and initially treated for, a primary CNS tumor between 2005 and 2012 at Monroe Carell Jr.

Oral presentation to publication: publication rates of abstract presentations across two pediatric neurosurgical meetings.

OBJECTIVE Both the American Association of Neurological Surgeons/Congress of Neurological Surgeons Joint Section on Pediatric Neurological Surgery (AANS/CNS Pediatric Section) and the International Society for Pediatric Neurosurgery (ISPN) annual meetings provide a platform for pediatric neurosurgeons to present, discuss, and disseminate current academic research. An ultimate goal of these meetings is to publish presented results in peer-reviewed journals. The purpose of the present study was to investigate the publication rates of oral presentations from the 2009, 2010, and 2011 AANS/CNS Pediatric Section and ISPN annual meetings in peer-reviewed journals.

Misdiagnosis: CNS Erdheim-Chester disease mimicking CLIPPERS.

Introduction Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory central nervous system (CNS) disorder with particular involvement of the pons. Diagnostic criteria include a range of clinical symptoms related to the underlying brainstem pathology, visible with magnetic resonance imaging (MRI). MRI findings include the appearance of punctuate and curvilinear gadolinium enhancement 'peppering' the pons.

Novel virus, atypical risk group: understanding young adults in college as an under-protected population during H1N1 2009.

Objective: To examine illness/vaccination perceptions of and intentions to vaccinate for seasonal influenza (SI) and 2009 H1N1 in the college setting.

Participants: 1190 adults [M=23.5 years (SD=9.

Alexander F. Chamberlain: a life's work.

This article examines the life and work of Alexander Francis Chamberlain. Though he has received little attention since the early 1900s, the importance of this scholar should not be underestimated. Chamberlain made notable contributions to the body of knowledge in anthropology-a discipline that, at the time, was a combination of anthropological and psychological inquiry.

Murine embryonic expression of the gene for the UV-responsive protein p15(PAF).

In a screen for genes expressed in the embryonic mouse facial primordia, we identified the gene sequence annotated as KIAA0101, which has previously been shown to encode a novel proliferating cell nuclear antigen (PCNA)-interacting protein named p15(PAF). We have since demonstrated that this protein also interacts in a complex with the tumour suppressor product p33ING1b, and that overexpression results in a decrease in UV-induced cell death. Although available data suggest widespread or ubiquitous expression in the adult, here we report highly restricted expression of the p15(PAF) gene in a spatio-temporal manner during mouse embryogenesis.

Identification and analysis of novel genes expressed in the mouse embryonic facial primordia.

Craniofacial anomalies are a common feature of human congenital dysmorphology syndromes, suggesting that genes expressed in the developing face are likely to play a wider role in embryonic development. To facilitate the identification of genes involved in embryogenesis, we previously constructed an enriched cDNA library by subtracting adult mouse liver cDNA from that of embryonic day (E)10.5 mouse pharyngeal arch cDNA.

Sleep in children with developmental disabilities.

Sleep disturbances are more common in children and adolescents with developmental disabilities than in non-disabled individuals. Given the potential benefit of improved sleep for a patient's daytime functioning, it is important that clinicians who work with this population query caretakers about sleep problems and offer intervention, whether behavioral or pharmacological. Sleep problems in children with developmental disorders often fail to improve spontaneously, as may be the case in typically developing children, which can lead to further distress, disappointment, and frustration for families.

Evolutionary conservation and murine embryonic expression of the gene encoding the SERTA domain-containing protein CDCA4 (HEPP).

Cdca4 (Hepp) was originally identified as a gene expressed specifically in hematopoietic progenitor cells as opposed to hematopoietic stem cells. More recently, it has been shown to stimulate p53 activity and also lead to p53-independent growth inhibition when overexpressed. We independently isolated the murine Cdca4 gene in a genomic expression-based screen for genes involved in mammalian craniofacial development, and show that Cdca4 is expressed in a spatio-temporally restricted pattern during mouse embryogenesis.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or urinary tract are associated.

Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease.

Most of the missense mutations that have been described in the human SLC12A3 gene encoding the thiazide-sensitive Na(+)-Cl(-) cotransporter (TSC, NCC, or NCCT), as the cause of Gitelman disease, block TSC function by interfering with normal protein processing and glycosylation. However, some mutations exhibit considerable activity. To investigate the pathogenesis of Gitelman disease mediated by such mutations and to gain insights into structure-function relationships on the cotransporter, five functional disease mutations were introduced into mouse TSC cDNA, and their expression was determined in Xenopus laevis oocytes.

Patients' understanding of cardiac risk factors: a point-prevalence study.

A 1-day point-prevalence study was conducted in our 141-bed tertiary cardiac care hospital in order to determine our patients' and their significant others' level of understanding of cardiac risk factors in general and of the patients' personal cardiac risk factors. There were 3 parts to the study: patient interviews, significant other (SO) interviews, and an audit of the participating patients' charts. Of the 87 patients who were able to participate, 71 completed the interviews as did 53 significant others.