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Lysosomal storage disorders: emerging therapeutic options require early diagnosis.

Lysosomal storage disorders have been recognised as one of the major groups of genetic disorders affecting children and adults. With over 40 different disorders and a combined prevalence of up to 1:5000 births, this group of disorders is a major public health problem and places an enormous burden on the individuals and families affected. Since the introduction of enzyme replacement therapy for Gaucher disease over 10 years ago there has been considerable progress in the development of enzyme based therapies for other disorders, in addition to alternate therapies including substrate deprivation and gene based therapies. Early diagnosis of these disorders before the onset of irreversible pathologies will lead to better outcomes for current and proposed therapies. In this review we describe the strategies and technology being used for the development of newborn screening for lysosomal storage disorders and discuss the future requirements for the early diagnosis and effective therapy of this group of disorders.

Biomedical Technology↗

The role of in process qualification in quality improvement of the haemonetics MCS plus leucodepleted platelet concentrate.

With the implementation of universal leucodepletion in UK all leucodepletion processes have gone through a standard process qualification and quality improvement. The Haemonetics MCS system is a well established automated platelet collection system for the production of double dose leucoreduced platelet concentrate (WBC approximately 70x10(6)/dose). Recently an automated post collection filtration harness system has been introduced (MCS plus LDP) in which platelets are filtered, using an in-line PALL polyester filter (LRFH6 PALL) to reduce the WBC level to below 5x10(6) WBC/dose. This system passed our Phase I evaluation process based on 20-40 runs. However, some changes in the final volume of the products were needed to conform to national guidelines. Large scale trials using the new volume adjusted protocol revealed occasional failure in the leucocyte content. Therefore, 100% testing had to be implemented on all products. A national evaluation was carried out to determine whether changing the filter to a more efficacious one, the LRFXL (PALL) or slowing the filtration flow rate can influence the overall outcome. To reduce donor variability, known donor population were used with identical apheresis conditions. A more consistent and systematic drop in leucocyte content was observed by reducing the flow rate whereas a similar failure (i.e. 1-3%) rate was found both in controls and LRFXL when using the standard head pressure, which is recommended by the manufacturer. A similar failure rate was found using three different low leucocyte counting technologies (Nageotte, flow cytometry and Imagn 2000). It is recommended that a process qualification/validation program should be implemented when even a small modification in the collection system is introduced.

Automation↗

Why Medicare cannot promulgate a national coverage rule: a case of regula mortis.

For over twenty-five years, Medicare has tried to promulgate a rule to implement the broad congressional directive to pay only for items and services that are "reasonable and necessary." A rule would clarify legal authority and describe specific criteria for evaluation of new technology in Medicare. This case study is an intractable example of a larger issue of regula mortis or dead rule. Regula mortis occurs when a mobilized interest group blocks legitimate administrative agency action, causing a regulatory stalemate. In this case, the medical device industry has prevented the implementation of a rule. The article diagnoses the condition of regula mortis, explains its effects in the Medicare case, and draws on principles of administrative law to propose remedies to break the logjam. While the case of coverage criteria is important in its own right, it has wider relevance. All health systems must grapple with the challenge of evaluating new technologies. Medicare efforts provide a starting point for the policy discussion. In our current political environment, regula mortis may be an increasingly common phenomenon and the proposed cures for it broadly applicable.

Aged↗

Challenges and opportunities for Medicare's original prospective payment system.

The Medicare program initiated prospective payment for inpatient hospital services in 1983. Although the payment system has achieved many of its goals, changes in the health care market and the public nature of the program will continue to present both challenges and opportunities for improvement. Looking forward, policymakers must consider how to balance paying accurately for services with using Medicare to achieve broader policy objectives. Paying for new technologies, responding to market segmentation and specialization, and encouraging quality improvement must also be addressed. To successfully navigate these issues, policymakers and program administrators need accurate and timely information.

Aged↗

[The technicalization of medicine in the 19th century].

The paper focuses on the role that instruments played in the medical discourse of the 19th century. Towards the end of the century, instruments had imbued the medical sciences to such an extent that the situation soon was compared to the vernacular confusion of the biblical tower of Babel. Whereas the autonomical recordings of laboratory apparatus, vouched for guarantee against biased test results, clinicians and general practitioners were finding it difficult to incorporate the new techniques into their daily routines. A tension between the instrument as invention, moulded to fit a particular series of experiments, and the instrument as a reproducible item, was inevitable. Hence, the unification of the science and practice of medicine, became an important topic at the international medical meetings of the late 19th century. Seen in the light of the industrialization and urbanization of occidental culture and society, the instrumentation of medicine entailed a number of significant issues which hinged on the relationship between the biological destiny of man and the artificial wonders of technology. Grand metaphors like the organic machine and the human motor, did not only signal a scientific preoccupation with the shortcomings of the living organism as opposed to the perfection of the machine, but also indicated closer ties between the human body and technology at large. In a certain sense, medical instruments, along with apparatuses such as the camera, the steam-engine, the telegraph, the phonograph and the cinematograph, offered a new set-up of codes with which the body and its functions could be reinterpreted. In this respect, the late nineteenth-century strive for the standardisation and unification of medical instruments, was not irreconcilable with the notion of the l'homme moyen, as conceived, for example, in the work of the Belgian mathematician Adolphe Quetelet. The paper outlines the span of medical measuring devices, dating from the sphygmometer of Jules Hérisson to the technical obsession of the late 19th century physiologists. During the course of fifty years, the purpose of Hérissons instrument, to achieve a common nomenclator for the evaluation of human blood pressure, had been driven to its extreme. Fascinated with the wonders and possibilities of sheer technology, physiologists cultivated the cult of the instrument to such a degree that the very evidence of organic phenomena, was transfigured into graphical projections, the monotonous of the telephone and other technical manifestations.

Biomedical Technology↗

[Medical application of nano-materials].

OBJECTIVE: To review the research progress and medical application of nano-materials. METHODS: The literature review and comprehensive analysis, methods were used in this study. RESULTS: The Nanotechnology is a typical crossing knowledge. It could be extensively applied in the fields of novel biomaterials, effective transmission of bioactive factor; the detection of functions for all vital organ systems, vascular circulation condition, the control of repair of burn trauma wounds will be monitored by the varied methods of nano technology combined with molecular biological engineering. CONCLUSION: The application of Nanotechnology will play important roles in clinical medicine, wound repair and basic research for the traditional Chinese medicine.

Biomedical Technology↗

[The links between technology and specialist practice in rehabilitation: the model of gymnastic technology in 19th century Spain].

Gymnastic technology had a decisive role in the configuration of a particular medical specialty, Physical Medicine and Rehabilitation. Its study is critical to understand the strong division of work roles that existed in this field, with a medical specialty and several professions linked to physiotherapy and rehabilitation. This process was developed in two well-defined phases: the assimilation of the knowledge and technological advances of gymnasts at the beginning of the 19th century, and the appropriation of the use of these appliances by doctors. Both factors favoured the emergence of the new professions.

Biomedical Technology↗

MyHeart: fighting cardio-vascular diseases by preventive lifestyle and early diagnosis.

Cardio-vascular diseases (CVD) are the leading cause of death. The MyHeart Project aims at empowering the citizens to fight cardio-vascular diseases by preventive lifestyle and early diagnosis. The main technical challenges in this project are the combination of novel wearable technologies (novel textile and electronic sensors, personalised algorithms, on-body computing) and user feedback and motivation concepts, in order to make a breakthrough towards new applications for prevention and early diagnose possible.

Biomedical Technology↗

Translating civilian and defense technologies for pediatric critical care and rehabilitation research.

A conference sponsored by the National Institutes of Health (NIH) and the Defense Advanced Research Projects Agency (DARPA) titled "Translating Civilian and Defense Technologies for Pediatric Critical Care and Rehabilitation Research" was held on May 16th and 17th, 2005 in Rockville, Maryland. A summary of presentations from the conference is provided. Topics presented addressed: advances in monitoring and imaging devices used in the pediatric intensive care unit, regulatory issues and recent technological developments relating to medical devices for children, the new role that virtual reality is playing in rehabilitation medicine, and the evolving future of assistive devices for rehabilitation.

Biomedical Technology↗

Life-sustaining technologies: value issues.

This article examines life-extending technologies such as resuscitation, mechanical ventilation, antibiotics, dialysis, and artificial nutrition and hydration. It considers these technologies in terms of the value issues of (1) equity of access, (2) equity of allocation, (3) cost-effectiveness and appropriateness of use, (4) legal concerns, and (5) determination and control of the application of technology. How we resolve these issues tests our character as individuals and as a society--it plays a key role in determining who shall live and what kind of society we shall become.

Age Factors↗

Evidence-based coverage policy.

Many health plans apply evidence-based approaches to coverage decisions. The foundation of such approaches is the systematic review of information about the effectiveness of medical interventions. This paper discusses the principles underlying evidence-based coverage policy and how they are applied by two major programs: the Technology Evaluation Center of the Blue Cross Blue Shield Association and the Medicare Coverage Advisory Committee. Although such policies likely have limited effects on spending, they can help to direct medical resources toward effective care.

Biomedical Technology↗