Broad Consent for Research With Biological Samples: Workshop Conclusions.

Different types of consent are used to obtain human biospecimens for future research. This variation has resulted in confusion regarding what research is permitted, inadvertent constraints on future research, and research proceeding without consent. The National Institutes of Health (NIH) Clinical Center's Department of Bioethics held a workshop to consider the ethical acceptability of addressing these concerns by using broad consent for future research on stored biospecimens.

Statin prescribing for primary prevention of cardiovascular disease: a cross-sectional, observational study.

Background: The updated (2014) National Institute for Health and Care Excellence (NICE) guideline lowered the recommended threshold for statin prescription from 20% to 10% 10-year cardiovascular disease (CVD) risk.

Aim: To determine the characteristics of patients prescribed statins for primary prevention according to their CVD risk.

Design And Setting: Cross-sectional study in primary care settings in the three east London CCGs (Newham, City and Hackney, and Tower Hamlets).

"Test me and treat me"--attitudes to vitamin D deficiency and supplementation: a qualitative study.

Objective: Lay interest in vitamin D and the potential benefits of supplementation is considerable, but little information exists concerning lay knowledge, beliefs and attitudes towards vitamin D to inform public health initiatives and professional guidance.

Design: Qualitative focus group study.

Participants: 58 adults capturing diversity in disease status, gender, age and ethnicity.

High uptake of naloxone-based overdose prevention training among previously incarcerated syringe-exchange program participants.

Background: Incarceration is common among people who inject drugs. Prior research has shown that incarceration is a marker of elevated risk for opioid overdose, suggesting that the criminal justice system may be an important, under-utilized venue for implementing overdose prevention strategies. To better understand the feasibility and acceptability of such strategies, we evaluated the utilization of naloxone-based overdose prevention training among people who inject drugs with and without a history of incarceration.

Caregivers and Left Ventricular Assist Devices as a Destination, Not a Journey.

Background: The quality of life (QOL) of caregivers of patients with LVAD-DT (Left Ventricular Assist Device as Destination Therapy) has not been well explored.

Methods: We used a concurrent mixed methods design. Caregivers (n = 42; average 60 years old, 82% female, 75% white) of patients (n = 39; average 68.

Congenital high myopia and central macular atrophy: a report of 3 families.

Aims: To report the clinical phenotype in a series of four children from three families with the rare association of high myopia, central macular atrophy, and normal full-field electroretinography (ERG).

Methods: Four male patients were ascertained with reduced vision, nystagmus, and atrophy of the macula from early childhood. Patients underwent full ophthalmic examination, electrophysiological testing, and retinal imaging.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Purpose: To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association.

Design: Retrospective observational case series.

Methods: Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phenotyping, which included fundus examination, Goldmann visual fields, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), and electroretinography (ERG).

Four patients with a history of acute exacerbations of COPD: implementing the CHEST/Canadian Thoracic Society guidelines for preventing exacerbations.

The American College of Chest Physicians and Canadian Thoracic Society have jointly produced evidence-based guidelines for the prevention of exacerbations in chronic obstructive pulmonary disease (COPD). This educational article gives four perspectives on how these guidelines apply to the practical management of people with COPD. A current smoker with frequent exacerbations will benefit from support to quit, and from optimisation of his inhaled treatment.

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked, dominant genodermatosis usually fatal in utero in males. In rare circumstances, survival is possible due to abnormal karyotype or somatic mosaicism. In this report, the mechanism and significance of loss of detectable mutation in peripheral blood leukocytes of a somatic mosaic male is discussed and an alternative approach to achieving molecular diagnosis presented.

Advancing Molecular-Guided Surgery through probe development and testing in a moderate cost evaluation pipeline.

Molecular guided oncology surgery has the potential to transform the way decisions about resection are done, and can be critically important in areas such as neurosurgery where the margins of tumor relative to critical normal tissues are not readily apparent from visual or palpable guidance. Yet there are major financial barriers to advancing agents into clinical trials with commercial backing. We observe that development of these agents in the standard biological therapeutic paradigm is not viable, due to the high up front financial investment needed and the limitations in the revenue models of contrast agents for imaging.

Unmasking quality: exploring meanings of health by doing art.

Background: Quality in healthcare has many potential meanings and interpretations. The case has been made for conceptualisations of quality that place more emphasis on describing quality and less on measuring it through structured, vertically oriented metrics. Through discussion of an interdisciplinary community arts project we explore and challenge the dominant reductionist meanings of quality in healthcare.

The NHS Health Check programme: implementation in east London 2009-2011.

Objectives: To describe implementation and results from the National Health Service (NHS) Health Check programme.

Design: Three-year observational open cohort study: 2009-2011.

Participants: People of age 40-74 years eligible for an NHS Health Check.

Associations between Difficulty Paying Medical Bills and Forgone Medical and Prescription Drug Care.

Problems paying medical bills have been reported to be associated with increased stress, bankruptcy, and forgone medical care. Using the Behavioral Model for Vulnerable Populations developed by Gelberg et al as a framework, as well as data from the 2010 Ohio Family Health Survey, this study examined the relationships between difficulty paying medical bills and forgone medical and prescription drug care. Logistic regression was used to examine associations between difficulty paying medical bills and predisposing, enabling, need (health status), and health behaviors (forgoing medical care).

Reduction in self-monitoring of blood glucose in type 2 diabetes: an observational controlled study in east London.

Background: Self-monitoring of blood glucose (SMBG) confers no benefit for many people with type 2 diabetes not being treated with insulin. It accounts for 21% of diabetes prescribing costs.

Aim: To improve care quality at reduced cost for type 2 diabetes by reducing unnecessary SMBG.

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4.

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Purpose: We present a detailed clinical and molecular study of four patients from two consanguineous families with a similar childhood-onset retinal dystrophy resulting from novel homozygous nonsense mutations in RBP3.

Methods: Four children with mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) were ascertained by whole exome sequencing and subsequent direct Sanger sequencing. Detailed phenotyping was performed, including full clinical evaluation, electroretinography, fundus photography, fundus autofluorescence (FAF) imaging, and spectral-domain optical coherence tomography (OCT).

The DISCUSS Project: Revised Points to Consider for the Derivation of Induced Pluripotent Stem Cell Lines From Previously Collected Research Specimens.

Human somatic cell reprogramming is a leading technology for accelerating disease modeling and drug discovery. The Deriving Induced Stem Cells Using Stored Specimens (DISCUSS) project is a consensus-building initiative designed to consider how human somatic cells obtained under general biomedical research protocols can be used in induced pluripotent stem cell (iPSC) derivation. We previously published a draft list of points to consider for the use of previously collected specimens in iPSC research and then initiated a structured feedback and comment process.

The unintended implications of blurring the line between research and clinical care in a genomic age.

While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Background: Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause.