Improving adherence and health outcomes in testicular cancer survivors using a mobile health-based intervention: A mixed-methods pilot study.

Objective: Testicular cancer (TC) is one of the most common cancers among young men, with survival rates exceeding 97% due to effective treatments. Post-treatment follow-up care is important for long-term survival and monitoring psychosocial symptoms, yet TC survivors (TCS) show poor adherence to post-treatment care. Mobile-health-based interventions show high acceptability in men with cancer.

Effectiveness of sensory modulation for people with schizophrenia: A multisite quantitative prospective cohort study.

Introduction: Current research evidence suggests that people with schizophrenia have sensory processing difficulties. Sensory modulation has growing evidence for use in this population. This study aimed to evaluate the extent to which health, social, cognitive, and occupational functioning outcomes were impacted by sensory modulation interventions for people with schizophrenia.

A comprehensive open-source library for exact required sample size in binary clinical trials.

We describe how we are creating a new and comprehensive R library solving the problem of exact sample size determination of RCTs. A crucial prerequisite for the trial protocol is a priori sample sizes that bound the test size below a target (often 5%) and the test power above a target (often 80%). Approximate formulas are available for binary trials but the target test size and power are often violated by standard methods for even quite large sample sizes.

Exact confidence limits after a group sequential single arm binary trial.

Group sequential single arm designs are common in phase II trials as well as attribute testing and acceptance sampling. After the trial is completed, especially if the recommendation is to proceed to further testing, there is interest in full inference on treatment efficacy. For a binary response, there is the potential to construct exact upper and lower confidence limits, the first published method for which is Jennison and Turnbull (1983).

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Purpose: A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs).

Methods: Two hundred one unrelated children (0-5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK.

Clinical and genetic variability in children with partial albinism.

Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. Here, we report the clinical and gene panel testing findings in 12 children with presumed ocular albinism.

Tests for noninferiority trials with binomial endpoints: A guide to modern and quasi-exact methods for biomedical researchers.

Applied statisticians and pharmaceutical researchers are frequently involved in the design and analysis of clinical trials where at least one of the outcomes is binary. Treatments are judged by the probability of a positive binary response. A typical example is the noninferiority trial, where it is tested whether a new experimental treatment is practically not inferior to an active comparator with a prespecified margin δ.

A new method of identifying target groups for pronatalist policy applied to Australia.

A country's total fertility rate (TFR) depends on many factors. Attributing changes in TFR to changes of policy is difficult, as they could easily be correlated with changes in the unmeasured drivers of TFR. A case in point is Australia where both pronatalist effort and TFR increased in lock step from 2001 to 2008 and then decreased.

Accurate p-values for adaptive designs with binary endpoints.

Adaptive designs encompass all trials allowing various types of design modifications over the course of the trial. A key requirement for confirmatory adaptive designs to be accepted by regulators is the strong control of the family-wise error rate. This can be achieved by combining the p-values for each arm and stage to account for adaptations (including but not limited to treatment selection), sample size adaptation and multiple stages.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Purpose: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD).

Design: Single-center retrospective case series.

Participants: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016.

MHC class I chain-related protein A and B (MICA and MICB) are predominantly expressed intracellularly in tumour and normal tissue.

Background: Major histocompatibility complex (MHC) class I chain-related protein A (MICA) and MHC class I chain-related protein B (MICB) are polymorphic proteins that are induced upon stress, damage or transformation of cells which act as a 'kill me' signal through the natural-killer group 2, member D receptor expressed on cytotoxic lymphocytes. MICA/B are not thought to be constitutively expressed by healthy normal cells but expression has been reported for most tumour types. However, it is not clear how much of this protein is expressed on the cell surface.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Purpose: Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual.

Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.

Purpose: The aim of this study was to evaluate the difference between intraocular pressure (IOP) measurements in children with the Icare tonomer (IT) and applanation (AT), pneumatic (PT), or digital tonometers (TT).

Design: A randomized prospective trial of children younger than age 16 attending the pediatric ophthalmology department of Manchester Royal Eye Hospital was conducted.

Methods: Children had IOP measured twice, once with an IT and again with a TT, PT, or AT during the same clinic appointment.

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

Background: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical features and visual outcomes of a case series of paediatric patients with a diagnosis of MMA or PA.

Forming implementation intentions improves prospective memory in early psychosis.

The study examined whether individuals with early psychosis are impaired in prospective memory (PM), that is, remembering to execute a planned intention in the future, and whether implementation intentions can improve their PM performance. Thirty participants with early psychosis and 33 healthy controls were randomly allocated to either an implementation intentions or control condition and completed a computerised event-based PM task. Participants were also administered two standardised tests of PM and an abbreviated IQ test.

Implementing evidence-based practices in supported employment on the Gold Coast for people with severe mental illness.

Aim: The aim of this project was to evaluate program outcomes following the implementation of an evidence-based approach to supported employment on the Gold Coast, Queensland, Australia.

Method: A prospective observational design was used to evaluate employment outcomes and fidelity to the evidence-based principles and practices of a specialised form of supported employment. The cohort was defined as all those (n = 114) that entered the program at each of three sites within a 21-month period.

Tuberculous Orbital Apex Syndrome with Severe Irreversible Visual Loss.

A 16-year-old girl presented with a unilateral red eye, progressive visual loss and diplopia. A detailed clinical assessment with appropriate investigations led to a diagnosis of Orbital Apex Syndrome (OAS) secondary to Tuberculosis (TB). We report this unusual case of TB OAS, which resulted in a poor visual outcome despite appropriate management.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Purpose: To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS).

Methods: Two individuals from a consanguineous family underwent comprehensive clinical phenotyping and electrodiagnostic testing (EDT). Genome-wide microarray analysis and Sanger sequencing of the candidate gene were used to identify the likely causal variant.

Formal plan for self-disclosure enhances supported employment outcomes among young people with severe mental illness.

Aim: Young people with mental illness experience high levels of unemployment, which can be related to stigma and discrimination. This may result from poor choices in disclosing personal information, such as their mental illness diagnosis, in the workplace. The aim of this study was to investigate the predictive validity of a formal plan to manage personal information (PMPI) during the early stages of supported employment.

Use of the Operant Orofacial Pain Assessment Device (OPAD) to measure changes in nociceptive behavior.

We present an operant system for the detection of pain in awake, conscious rodents. The Orofacial Pain Assessment Device (OPAD) assesses pain behaviors in a more clinically relevant way by not relying on reflex-based measures of nociception. Food fasted, hairless (or shaved) rodents are placed into a Plexiglas chamber which has two Peltier-based thermodes that can be programmed to any temperature between 7 °C and 60 °C.

Artemin-GFRα3 interactions partially contribute to acute inflammatory hypersensitivity.

The expression of artemin (ARTN), a glial cell line-derived neurotrophic factor (GDNF) family ligand, increases in pre-clinical models of nociception and recent evidence suggests this growth factor may play a causative role in inflammatory pain mechanisms. The aim of this study was to demonstrate functional inhibition of ARTN with monoclonal antibodies and to determine whether ARTN neutralisation could reverse inflammatory pain in mice. We show that monoclonal antibodies with high affinity to ARTN, completely inhibit ARTN-induced Ret and ERK activation in a human neuroblastoma cell line, and block capsaicin-induced CGRP secretion from primary rat DRG cultures.

Accurate confidence limits for stratified clinical trials.

For stratified 2 × 2 tables, standard approximate confidence limits can perform poorly from a strict frequentist perspective, even for moderate-sized samples, yet they are routinely used. In this paper, I show how to use importance sampling to compute highly accurate limits in reasonable time. The methodology is very general and simple to implement, and orders of magnitude are faster than existing alternatives.