Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study.

Aims: Lysosomal α-galactosidase A deficiency (Fabry disease (FD)) was considered an X-linked recessive disorder but is now viewed as a variable penetrance dominant trait. The prevalence of FD is 1 in 40 000-117 000 but the ascertainment of late-onset cases and degree of female penetrance makes this unclear. Its prevalence in the general population, especially in patients with abnormal renal function is unclear.

Identification of patients with Pompé disease using routine pathology results: PATHFINDER (creatine kinase) study.

Aims: Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid α-1,4 glucosidase (acid maltase) deficiency (Pompé disease). This study investigated whether screening of asymptomatic patients with elevated creatine kinase (CK) could improve detection of Pompé disease.

An audit of research productivity in clinical biochemistry revisited.

Objective: To investigate recent (2011-2015) research productivity in clinical biochemistry and compare it with a previous audit (1994-1998).

Design: A retrospective audit of peer-reviewed academic papers published in Medline listed journals.

Setting: UK chemical pathology/clinical biochemistry laboratories and other clinical scientific staff working in departments of pathology.

Demand management of weekend haematology and clinical biochemistry requests.

Background: Increasing demand for laboratory testing at weekends is common but little is known about its appropriateness.

Methods: An audit was conducted in a large district hospital of routine haematology and clinical biochemistry requests ordered over two weekends. Appropriateness was assessed by review of ordered tests compared with clinical records by a qualified chemical pathologist.

Are intensive lipid-lowering regimens an optimal economic strategy in patients with ACS? An acute and chronic perspective.

A literature review was conducted to identify studies exploring the cost-effectiveness of intensive lipid-lowering regimens compared with a generic low-dose statin for individuals with acute coronary syndrome. Three papers matched the inclusion criteria. All used a Markov model to represent the long-term clinical pathway; two were set in the UK and one was in the USA.

Randomized clinical trial comparing 2 support surfaces: results of the Prevention of Pressure Ulcers Study.

Objective: To determine whether a viscoelastic polymer (energy absorbing) foam mattress was superior to a standard hospital mattress for pressure ulcer prevention and to analyze the cost-effectiveness in comparison with standard hospital mattresses.

Design: Unblinded, randomized, prospective trial.

Setting: Elderly acute care, rehabilitation, and orthopedic wards at 3 hospitals in the United Kingdom.