Evaluation of a nurse-led glaucoma assessment clinic for non-complex patients.

Aims And Objectives: The purpose of this study was to assess the safety, feasibility and effectiveness of a nurse-led glaucoma assessment clinic service.

Background: Glaucoma is a group of serious, irreversible optic neuropathies that progressively damage the optic nerve resulting in blindness. Over 64.

Delivery of cancer care via an outpatient telephone support line: a cross-sectional study of oncology nursing perspectives on quality and challenges.

Rationale: Patient support lines (PSLs) assist in triaging clinical problems, addressing patient queries, and navigating a complex multi-disciplinary oncology team. While providing support and training to the nursing staff who operate these lines is key, there is limited data on their experience and feedback.

Methods: We conducted a cross-sectional study of oncology nurses' (ONs') perspectives on the provision of care via PSLs at a tertiary referral cancer center via an anonymous, descriptive survey.

Using machine learning to predict individual patient toxicities from cancer treatments.

Purpose: Machine learning (ML) is a powerful tool for interrogating datasets and learning relationships between multiple variables. We utilized a ML model to identify those early breast cancer (EBC) patients at highest risk of developing severe vasomotor symptoms (VMS).

Methods: A gradient boosted decision model utilizing cross-sectional survey data from 360 EBC patients was created.

Legal Privilege Legislation: Consequences for Patient Safety.

Increasing awareness of the extent of preventable harm from healthcare has led to efforts to improve patient safety through a variety of efforts, including legislation. Extending legal privilege to quality and safety reviews leads to further harm for many patients, families and healthcare providers. The intentional isolation, silencing and exclusion after the incident undermines trust, prevents learning and impedes an opportunity to heal and recover for all those directly involved.

Vasomotor symptoms in early breast cancer-a "real world" exploration of the patient experience.

Background: Despite the frequency of vasomotor symptoms (VMS) in patients with early breast cancer (EBC), their optimal management remains unknown. A patient survey was performed to determine perspectives on this important clinical challenge.

Methods: Patients with EBC experiencing VMS participated in an anonymous survey.

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain cholestatic disorders, these methods have also identified new targets for therapy as well patient subgroups more likely to benefit from specific therapies.

Developing patient-centred strategies to optimize the management of vasomotor symptoms in breast cancer patients: a survey of health care providers.

Purpose: Vasomotor symptoms (VMS) such as hot flashes and night sweats are common in breast cancer patients and can affect both quality of life and treatment adherence. However, there is limited practical data to guide clinicians in the optimal selection of therapeutic strategies. A survey of health care providers was performed to better understand perspectives and prescribing practices for managing this problem.

School Breakfast Club Programs in Australian Primary Schools, Not Just Addressing Food Insecurity: A Qualitative Study.

Many Australian primary schools have established school breakfast clubs (SBCs) to address concerns about children arriving at school hungry and the subsequent impact on learning but their effectiveness is uncertain. This study aimed to identify the perceived benefits, impacts, operational practices, and challenges of running SBCs. Case studies with 10 Australian primary schools from different socioeconomic and geographic areas.

A randomized trial comparing vascular access strategies for patients receiving chemotherapy with trastuzumab for early-stage breast cancer.

Purpose: Trastuzumab-based chemotherapy is usually administered through either a peripherally inserted central catheter (PICC) or a totally implanted vascular access device (PORT). As the most effective type of access is unknown, a feasibility trial, prior to conducting a large pragmatic trial, was undertaken.

Methods: The trial methodology utilized the integrated consent model incorporating oral consent.

A multicentre, randomized pilot trial comparing vascular access strategies for early stage breast cancer patients receiving non-trastuzumab containing chemotherapy.

Purpose: All vascular access strategies foradministering chemotherapy in early stage breast cancer (EBC) are associated with risks and benefits. As the most effective type of access is unknown a feasibility trial, prior to conducting a large pragmatic trial, was undertaken.

Methods: The trial methodology utilized broad eligibility criteria and the integrated consent model incorporating oral consent.

Taking a Gamble for High Rewards? Management Perspectives on the Value of Mental Health Peer Workers.

Mental health peer work is attracting growing interest and provides a potentially impactful method of service user involvement in mental health design and delivery, contributing to mental health reform. The need to effectively support this emerging workforce is consequently increasing. This study aimed to better understand the views of management in relation to peer work and specifically explores the value of peer work from the perspective of management.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour.

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.

Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.

Alcohol brief interventions practice following training for multidisciplinary health and social care teams: a qualitative interview study.

Introduction And Aims: Few studies of the implementation of alcohol brief interventions (ABI) have been conducted in community settings such as mental health, social work and criminal justice teams. This qualitative interview study sought to explore the impact of training on ABI delivery by staff from a variety of such teams.

Design And Methods: Fifteen semi-structured telephone interviews were carried out with trained practitioners and with managers to explore the use of, perceived need for and approaches to ABI delivery and recording with clients, and compatibility of ABIs with current practice.

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Background: Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with molecular studies commonly performed to confirm diagnosis.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.

Background: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1).

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Context: Pheochromocytomas and paragangliomas are notable for a high frequency of inherited cases, many of which present as apparently sporadic tumors.

Objective: The objective of this study was to establish a comprehensive next generation sequencing (NGS)-based strategy for the diagnosis of patients with pheochromocytoma and paraganglioma by testing simultaneously for mutations in MAX, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and VHL.

Design: After the methodology for the assay was designed and established, it was validated on DNA samples with known genotype and then patients were studied prospectively.