Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.

Background: We investigated the phenotypes and genotypes of a cohort of 'long-surviving' individuals with motor neuron disease (MND) to identify potential targets for prognostication.

Methods: Patients were recruited via the Clinical Audit Research and Evaluation for MND (CARE-MND) platform, which hosts the Scottish MND Register. Long survival was defined as > 8 years from diagnosis.

Conceptualizing Municipal Elections: The Case of Toronto 2018.

Since Angus Campbell and colleagues first introduced the "levels of conceptualization" (LoC) framework as a measure of political sophistication, a number of scholars have applied the approach to subsequent American national elections. In this study, we present the first application of the LoC framework to a municipal election, and focus upon the 2018 Toronto mayoral race. After describing the method and data we use to adapt the framework to this new context, we replicate previous analyses, and find that LoC is related to local voter turnout and several measures of political sophistication.

Improving Hearing Protection Device Noise Attenuation Through Fit-Testing in an Occupational Health Clinic.

Background: Occupational noise-induced hearing loss (NIHL) is the second most common medical disability for military veterans and accounts for 24% of all hearing loss in the United States. Hearing loss negatively affects health and billions of dollars are spent annually for direct and indirect medical costs and lost work productivity. Proper hearing protection device (HPD) fit can prevent NIHL.

Technology clinical trials: Turning innovation into patient benefit.

Health care needs to continuously evolve and innovate to maintain the health of populations. Technology has the potential to enable better patient engagement and ownership, as well as optimise therapeutic interventions and data-science approaches to facilitate improved health care decisions. Yet, to date, technological innovation has not resulted in the rate of change that could have been predicted from other sectors.

The brief Dimensional Apathy Scale: A short clinical assessment of apathy.

Apathy is a prominent syndrome across neurodegenerative diseases. The Dimensional Apathy Scale (DAS) assesses three apathy subtypes-executive, emotional, and initiation-and is sensitive and valid in amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), and Parkinson's disease. This study describes the development of the brief DAS (b-DAS), which will enable apathy to be swiftly detected in the clinic.

Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland.

: Launched in 1989, the Scottish Motor Neuron Disease Register (SMNDR) has provided a resource for prospective clinical data collection. However, in 2015 we aimed to evolve a system to allow: i) A patient-centered approach to care based on recognized standards, ii) Harmonized data sharing between Scottish health professionals in "real-time", iii) Regular audit of care to facilitate timely improvements in service delivery, and iv) Patient participation in a diverse range of observational and interventional research studies including clinical trials. : We developed a standardized national electronic data platform-Clinical Audit Research and Evaluation of MND (CARE-MND) which integrates clinical audit and research data fields.

Changing epidemiology of motor neurone disease in Scotland.

Objectives: Scotland benefits from an integrated national healthcare team for motor neurone disease (MND) and a tradition of rich clinical data capture using the Scottish MND Register (launched in 1989; one of the first national registers). The Scottish register was re-launched in 2015 as Clinical Audit Research and Evaluation of MND (CARE-MND), an electronic platform for prospective, population-based research. We aimed to determine if incidence of MND is changing over time.

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS.

Objective: To elucidate the relationship between disease stage in amyotrophic lateral sclerosis (ALS), as measured with the King's Clinical Staging System, and cognitive and behavioral change, measured with the Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

Methods: A large multicenter observational cohort of 161 cross-sectional patients with ALS and 80 healthy matched controls were recruited across 3 research sites (Dublin, Edinburgh, and London). Participants were administered the ECAS and categorized into independent groups based on their King's clinical disease stage at time of testing.

Validation of a Collaboration Readiness Assessment Tool for Use by Supplemental Nutrition Assistance Program-Education (SNAP-Ed) Agencies and Partners.

Objective: To evaluate content and face validity of a collaboration readiness assessment tool developed to facilitate collaborative efforts to implement policy, systems, and environment changes in Supplemental Nutrition Assistance Program-Education (SNAP-Ed).

Methods: Evaluation of the validity of the tool involved 2 steps. Step 1 was conducted with 4 subject matter experts to evaluate content validity.

Multidimensional apathy and executive dysfunction in amyotrophic lateral sclerosis.

Apathy and cognitive dysfunction are prominent symptoms of Amyotrophic lateral sclerosis (ALS). More specifically ALS patients show increased Initiation apathy-a lack of motivation for self-generation of thoughts as assessed by the Dimensional Apathy Scale. This study aimed to investigate the cognitive underpinnings of apathy subtypes in ALS.

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls.

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.

Due to the GC-rich, repetitive nature of C9orf72 hexanucleotide repeat expansions, PCR based detection methods are challenging. Several limitations of PCR have been reported and overcoming these could help to define the pathogenic range. There is also a need to develop improved repeat-primed PCR assays which allow detection even in the presence of genomic variation around the repeat region.

Multidimensional apathy in ALS: validation of the Dimensional Apathy Scale.

Aim: Apathy is a prominent symptom of amyotrophic lateral sclerosis (ALS), but measurement is confounded by physical disability. Furthermore, it has been traditionally measured as a unidimensional symptom despite research demonstrating a multifaceted construct. The new Dimensional Apathy Scale (DAS) has been specifically designed for patients with motor disability to measure 3 neurologically based subtypes of apathy: Executive, Emotional and Initiation.

Look local: the value of cancer surveillance and reporting by American Indian clinics.

Introduction: Cancer incidence and mortality rates for American Indians in the Northern Plains region of the United States are among the highest in the nation. Reliable cancer surveillance data are essential to help reduce this burden; however, racial data in state cancer registries are often misclassified, and cases are often underreported.

Methods: We used a community-based participatory research approach to conduct a retrospective ascertainment of cancer cases in clinic medical records over a 9-year period (1995-2003) and compared the results with the state cancer registry to evaluate missing or racially misclassified cases.

Long-term outcome of patients with a negative work-up for asymptomatic microhematuria.

Objectives: To assess the validity of the American Urological Association guidelines, we investigated 14-year outcomes of men aged > or = 50 years who had hematuria detected in a bladder cancer (BC) screening trial, were thoroughly evaluated, and were not found to have urological cancers. The American Urological Association guidelines for follow-up of adults with asymptomatic microhematuria (MH) who have negative evaluations include repeat urinary cytologies, urinalyses, and office visits for several years, primarily to detect BC (Cohen and Brown, N Engl J Med 348: 2330-2338, 2003; and Grossfeld et al, Urology 57:604-610, 2001).

Methods: Of 1575 screening participants, 258 had MH detected by daily home testing with the Ames hemastix during two 14-day periods.

Grade and stage at presentation do not predict mortality in patients with bladder cancer who survive their disease.

Purpose: Our goal was to determine whether presenting grade and stage of bladder cancer (BC), which directly affect disease-specific survival, also influence time to and cause of non-BC deaths.

Methods: Histology slides of all men who lived in Wisconsin age > or = 50 years diagnosed with BC in 1988 were reviewed centrally, and time and cause of death as reported to the state's tumor registry were recorded. Competing risks analyses based on grade, tumor stage, and age at diagnosis were generated to correlate time and causes of death (BC or non-BC) with tumor histology and age at presentation.

Lessons learned from a community-based participatory research project to improve American Indian cancer surveillance.

Background: American Indian and Alaska Native cancer incidence data are limited by underreporting and misclassification. These populations also suffer from a history of research abuse.

Objectives: The project's goal was to use community-based participatory research (CBPR) to assess the local burden of cancer in the American Indian communities in Wisconsin and assess the accuracy of Wisconsin American Indian cancer data.

Improving cancer incidence estimates for American Indians in Wisconsin.

Objectives: The purpose of this study was to improve the measurement of cancer incidence among American Indians in Wisconsin and compare incidence rates with state and national incidence rates.

Methods: The Wisconsin Cancer Reporting System (WCRS) entered into a data linkage project with CDC and the Indian Health Service (IHS) to improve classification of American Indian cancer cases in Wisconsin. WCRS data were linked to IHS patient registration files to identify American Indian cases that were misclassified as a non-Indian race for the years 1998-2002.

Long-term outcome of hematuria home screening for bladder cancer in men.

Background: The objectives of this study were to determine whether bladder cancer (BC) screening in healthy men could lead to earlier detection and reduced BC mortality compared with unscreened men and to determine long-term outcomes of a geographically defined, unscreened population with newly diagnosed BC.

Methods: In 1987 and from 1998 to 1992, 1575 men ages 50 years and older who were solicited from well patient rosters in clinics in and around Madison, Wisconsin, tested their urine repetitively with a chemical reagent strip for hemoglobin. Participants who had positive test results underwent standard urologic evaluation.

Linking childhood cancer with potential environmental exposure determinants.

Childhood chronic diseases, especially cancer, are of growing concern. Research has focused on 2 developmental periods, prenatal and postnatal. While it is hypothesized that chemical contaminants in the physical environment may play a role in the development and exacerbation of many chronic diseases, the role of environmental exposures in the etiology of these conditions remains uncertain.

Wisconsin's environmental public health tracking network: information systems design for childhood cancer surveillance.

In this article we describe the development of an information system for environmental childhood cancer surveillance. The Wisconsin Cancer Registry annually receives more than 25,000 incident case reports. Approximately 269 cases per year involve children.