Multidisciplinary Clinician Perspectives on Embedded Palliative Care Models in Pediatric Cancer.

Context: Integration of palliative care (PC) into pediatric cancer care is considered best practice by national oncology and pediatric organizations. Optimal strategies for PC integration remain understudied, although growing evidence suggests that embedded models improve quality of care and quality of life for patients and families.

Objectives: To describe the perspectives and preferences of multidisciplinary clinicians regarding ideal models for PC integration in pediatric cancer care; to introduce clinicians to the theoretical concept of an embedded care model; to empower clinicians in co-design of a new institutional model through collaborative discussion of anticipated benefits and challenges of embedded model implementation.

Community Hospice Nurses' Perspectives on Needs, Preferences, and Challenges Related to Caring for Children With Serious Illness.

Importance: Many of the 50 000 children who die annually are eligible for provision of community-based hospice care, yet few hospice organizations offer formal pediatric services. Population-level data demonstrate that hospice nurses lack training, experience, and comfort in caring for children, but their specific educational needs and preferences are poorly understood.

Objective: To assess the pediatric-specific training and support needs of hospice nurses caring for children in the community.

Communication around palliative care principles and advance care planning between oncologists, children with advancing cancer and families.

Background: In medical oncology, palliative care principles and advance care planning are often discussed later in illness, limiting time for conversations to guide goal-concordant care. In pediatric oncology, the frequency, timing and content of communication about palliative care principles and advance care planning remains understudied.

Methods: We audio-recorded serial disease re-evaluation conversations between oncologists, children with advancing cancer and their families across the illness trajectory until death or 24 months from last disease progression.

Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.

Lung cancer is the commonest cause of cancer deaths worldwide. Although strongly associated with smoking, predisposition to lung cancer is also heritable, with multiple common risk variants identified. Rarely, dominantly inherited non-small-cell lung cancer (NSCLC) has been reported due to somatic mutations in EGFR/ErbB1 and ERBB2.

Prognostic Communication Between Oncologists and Parents of Children With Advanced Cancer.

Background And Objectives: Parents of children with cancer perceive deficits in quality of prognostic communication. How oncologists disclose information about disease progression and incurability and how prognostic communication impacts parental understanding of prognosis are poorly understood. In this study, we aimed to (1) characterize communication strategies used by pediatric oncologists to share prognostic information across a child's advancing illness course and (2) explore relationships between different communication approaches and concordance of oncologist-parent prognostic understanding.

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Background: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles.

Methods: To promote national consistency in interpretation of hereditary cancer/tumour gene test results, we requested opinions of representatives from Australian Family Cancer Clinics regarding the clinical utility of 157 genes initially collated for a national research project.

Investigation of Modifiable Variables to Increase Hospice Nurse Comfort With Care Provision to Children and Families in the Community: A Population-Level Study Across Tennessee, Mississippi, and Arkansas.

Context: Most hospice nurses across Tennessee, Arkansas, and Mississippi report significant discomfort with provision of pediatric palliative and hospice care (PPHC). How best to target and modify variables to increase nurse comfort levels is not well understood.

Objectives: To determine whether modifiable variables are associated with increased hospice nurse comfort with PPHC provision in the community.

Proton channel blockers inhibit Duox activity independent of Hv1 effects.

The NADPH oxidase reaction produces protons. In the case of the NADPH oxidase, NOX2, activity depends on secretion of these protons and is inhibited by blockade of the voltage-gated proton channel (Hv1). Duox1 and Duox2 activities similarly produce intracellular protons but synthesize hydrogen peroxide directly instead of superoxide.

Longitudinal investigation of prognostic communication: Feasibility and acceptability of studying serial disease reevaluation conversations in children with high-risk cancer.

Background: Prospective investigation of medical dialogue is considered the gold standard in prognostic communication research. To the authors' knowledge, the achievability of collecting mixed methods data across an evolving illness trajectory for children with cancer is unknown.

Methods: The objective of the current study was to investigate the feasibility and acceptability of recording sequential medical discussions at disease reevaluation time points for children with high-risk cancer.

The Tumor Microenvironment as a Regulator of Endocrine Resistance in Breast Cancer.

Estrogen receptor positive breast neoplasias represent over 70% of diagnosed breast cancers. Depending on the stage at which the tumor is detected, HER2 status and genomic risk, endocrine therapy is combined with either radio, chemo and/or targeted therapy. A growing amount of evidence supports the notion that components of the tumor microenvironment play specific roles in response to treatment and that strategies targeting these key interactions with tumor cells could pave the way to a new generation of therapies.

Hospice nurses request paediatric-specific educational resources and training programs to improve care for children and families in the community: Qualitative data analysis from a population-level survey.

Background: Children with serious illness who receive hospice care often interface with nurses who lack training, experience and comfort in the provision of paediatric palliative and hospice care. Hospice nurse preferences for paediatric-specific training are not well known.

Aim: To describe the types of paediatric-specific training received and educational content preferred by hospice nurses.

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.

Aim: The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype.

Methods: The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November 2017. Reporting clinicians were invited to complete a questionnaire.

Correction to: Semivariogram and Semimadogram functions as descriptors for AMD diagnosis on SD-OCT topographic maps using Support Vector Machine.

After publication, it was highlighted that the original publication [1] contained a spelling mistake in the first name of Marcelo Gattas. This was incorrectly captured as Marelo Gattass in the original article which has since been updated.

Provision of Palliative and Hospice Care to Children in the Community: A Population Study of Hospice Nurses.

Context: Approximately 500,000 children in the United States suffer from life-limiting illnesses each year, many of whom are hospice eligible each year. Few hospice agencies, however, offer formal pediatric programs.

Objective: To determine the levels of experience and comfort of hospice nurses who provide care to children and families in the community.

Semivariogram and Semimadogram functions as descriptors for AMD diagnosis on SD-OCT topographic maps using Support Vector Machine.

Background: Age-related macular degeneration (AMD) is a degenerative ocular disease that develops by the formation of drusen in the macula region leading to blindness. This condition can be detected automatically by automated image processing techniques applied in spectral domain optical coherence tomography (SD-OCT) volumes. The most common approach is the individualized analysis of each slice (B-Scan) of the SD-OCT volumes.

Advancing the field of communication research in pediatric oncology: A systematic review of the literature analyzing medical dialogue.

Historically, communication research in pediatric oncology has relied on surveys and interviews, resulting in cross-sectional and retrospective studies constrained by selection, recognition, and recall biases. This systematic review identifies and synthesizes the published literature analyzing primary data from recorded conversations between pediatric oncologists, patients with cancer, and their families, with the following objectives: (1) to identify the extent and content of the evidence base, (2) to describe methodological strategies utilized in the analysis of recorded medical dialogue, (3) to aggregate salient findings, and (4) to generate recommendations for future prospective research related to analysis of medical dialogue in pediatric oncology.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Purpose: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH. No gene has been associated with this condition. Whole-exome sequence data from two siblings and three unrelated individuals with Fryns syndrome were filtered for rare, good quality, coding mutations fitting a recessive inheritance model.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. Here we present results from molecular testing of an Australia and New Zealand cohort of 630 individuals with a diagnosis of craniosynostosis.

Segmental Maternal UPD6 with Prenatal Growth Restriction.

We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction.

Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins.

Mismatch repair-deficient breast cancers may be identified in Lynch syndrome mutation carriers, and have clinicopathological features in common with mismatch repair-deficient colorectal and endometrial cancers such as tumour-infiltrating lymphocytes and poor differentiation. Mismatch repair-deficient colorectal cancers frequently show mucinous differentiation associated with upregulation of chromosome 11 mucins. The aim of this study was to compare the protein expression of these mucins in mismatch repair-deficient and -proficient breast cancers.

Cancer risks for MLH1 and MSH2 mutation carriers.

We studied 17,576 members of 166 MLH1 and 224 MSH2 mutation-carrying families from the Colon Cancer Family Registry. Average cumulative risks of colorectal cancer (CRC), endometrial cancer (EC), and other cancers for carriers were estimated using modified segregation analysis conditioned on ascertainment criteria. Heterogeneity in risks was investigated using a polygenic risk modifier.

Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis.

Serrated polyposis (SP) is a clinically defined syndrome characterized by the occurrence of multiple serrated polyps in the large intestine. Individuals with SP and their relatives are at increased risk of colorectal carcinoma (CRC). We aimed to determine the pathologic and molecular profiles of CRCs in individuals fulfilling World Health Organization criteria for SP.