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.

Progressive Mobility Protocol Reduces Venous Thromboembolism Rate in Trauma Intensive Care Patients: A Quality Improvement Project.

The intensive care unit (ICU) trauma population is at high risk for complications associated with immobility. The purpose of this project was to compare ICU trauma patient outcomes before and after implementation of a structured progressive mobility (PM) protocol. Outcomes included hospital and ICU stays, ventilator days, falls, respiratory failure, pneumonia, or venous thromboembolism (VTE).

The first structural and spectroscopic characterisation of a ring-opened form of a 2H-naphtho[1,2-b]pyran: a novel photomerocyanine.

Heating 4-methoxy-1-naphthol with a 1,1-diarylprop-2-yn-1-ol gave the 2,2-diaryl-6-methoxy-2H-naphtho[1,2-b]pyran together with the novel merocyanine, (E)-2-[3',3'-bis(aryl)allylidene]-4-methoxynaphthalen-1(2H)-one. Brief UV-irradiation of the pyran favoured the formation of the (Z)-merocyanine with longer irradiation and/or acidic conditions favouring the (E)-isomer.

A practical method for monitoring general practice mortality in the UK: findings from a pilot study in a health board of Northern Ireland.

Background: The Baker report into Dr Harold Shipman's murders recommended monitoring mortality in general practice, but there is currently no practical method available to implement this.

Aim: To monitor mortality rates in response to the Baker report and to use the data to improve quality of care.

Design Of Study: Prospective mortality monitoring study.