Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.

PURPOSE: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. METHODS: Retrospective study from 1996 to 2017 analyzing data from an academic referral center specializing in autosomal dominant tubulointerstitial kidney disease (ADTKD). Individuals were referred by academic health-care providers (HCPs) nonacademic HCPs, or directly by patients/families. RESULTS: Over 21 years, there were 665 referrals, with 176 (27%) directly from families, 269 (40%) from academic HCPs, and 220 (33%) from nonacademic HCPs. Forty-two (24%) direct family referrals had positive genetic testing versus 73 (27%) families from academic HCPs and 55 (25%) from nonacademic HCPs (P = 0.72). Ninety-nine percent of direct family contacts were white and resided in zip code locations with a mean median income of $77,316 ± 34,014 versus US median income $49,445. CONCLUSION: Undiagnosed families with Internet access bypassed their physicians and established direct contact with an academic center specializing in inherited kidney disease to achieve a diagnosis. Twenty-five percent of all families diagnosed with ADTKD were the result of direct family referral and would otherwise have been undiagnosed. If patients suspect a rare disorder that is undiagnosed by their physicians, actively pursuing self-diagnosis using the Internet can be successful. Centers interested in rare disorders should consider improving direct access to families.

Early communication of drug safety concerns: a feasibility study on enhancing interaction between the pharmaceutical industry and regulators.

PURPOSE: The responsibility for monitoring the safety of marketed medicines is shared between regulatory authorities and the pharmaceutical industry and is underpinned by legal obligations on both sides. Both marketing authorisation holders (MAHs) and regulators initially evaluate and investigate potential safety concerns, and then work together on further review as appropriate. We wanted to test the feasibility of enhanced interaction between MAH and regulator via a regular monthly, two-way communication of potential safety concerns between the MAHs and the Medicines and Healthcare Products Regulatory Agency (MHRA). It was envisaged that such a process would aid prioritisation and planning by both parties, avoid duplication of effort and support a collaborative approach for decision making. METHODS: Four MAHs took part in the pilot, which was conducted between July 2007 and June 2008. Potential safety concerns were exchanged on a monthly basis. The MAH/MHRA proposed a timeline for evaluation of each potential safety concern. The pilot did not include serious public health issues which are immediately reported to regulatory authorities. RESULTS: During the pilot, 136 potential safety concerns were exchanged. Thirteen per cent of these resulted in a change to product information for health professionals and patients. There was concurrence between the MAHs and MHRA on timelines proposed for evaluation. CONCLUSIONS: The pilot proved feasible for the companies involved and indicated potential benefits of a system for avoiding duplication of effort and supporting a collaborative approach to planning and prioritisation of investigation of potential safety concerns between pharmaceutical industry and regulatory authorities.

The Bobath concept in contemporary clinical practice.

BACKGROUND: Future development in neurorehabilitation depends upon bringing together the endeavors of basic science and clinical practice. The Bobath concept is widely utilized in rehabilitation following stroke and other neurological conditions. This concept was first developed in the 1950s, based on the neuroscience knowledge of those times. PURPOSE: The theoretical basis of the Bobath concept is redefined based on contemporary neuroscience and rehabilitation science. The framework utilized in the Bobath concept for the analysis of movement and movement dysfunction is described. This framework focuses on postural control for task performance, the ability to move selectively, the ability to produce coordinated sequences of movement and vary movement patterns to fit a task, and the role of sensory input in motor behaviour and learning. The article describes aspects of clinical practice that differentiate this approach from other models of practice. Contemporary practice in the Bobath concept utilizes a problem-solving approach to the individual's clinical presentation and personal goals. Treatment is focused toward remediation, where possible, and guiding the individual towards efficient movement strategies for task performance. The aim of this article is to provide a theoretical framework on which future research into the Bobath concept can be based.