Magnetic resonance imaging in Duchenne muscular dystrophy: longitudinal assessment of natural history over 18 months.

Introduction: In Duchenne muscular dystrophy (DMD), fat replacement of muscle may be a useful endpoint in trials of therapy, although progression in different muscle groups is uneven. In this study we assessed the progression of fat replacement with T(1) -weighted imaging over 2 9-month periods.

Methods: Eight ambulant, corticosteroid-treated boys with DMD were imaged at 3 Tesla at 3 time-points (baseline and 9 and 18 months) with T(1) -weighted imaging to measure fat replacement.

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).

To identify serum biomarkers that allow monitoring of disease progression and treatment effects in Duchenne muscular dystrophy (DMD) patients, levels of matrix metalloproteinase-9 (MMP-9), tissue inhibitors of metalloproteinase-1 (TIMP-1) and osteopontin (OPN) were determined in 63 DMD patients on corticosteroid therapy. These proteins were selected for their role in the pathogenesis of muscular dystrophy. Levels of MMP-9 and TIMP-1 were significantly higher in sera of DMD patients compared to healthy controls, whereas the OPN levels showed no significant difference.

MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.

Purpose: To quantify the differences between normal and corticosteroid-treated Duchenne muscular dystrophy (DMD) lower limb muscle using signal intensity measurements on T(1)-weighted and gadolinium contrast-enhanced images and by measurement of muscle T(2) values, and to investigate the effect of exercise.

Materials And Methods: Eleven ambulant boys with DMD were imaged at 3 Tesla (T(1)-weighted, gadolinium enhancement and T(2) measurement) before stepping exercise and again (gadolinium, T(2) measurement) 4 days later and were compared with five healthy controls imaged 4 days before and after stepping exercise. Muscle region-of-interest signal intensities were referenced to external oil and gadolinium phantoms.

Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy.

Myoglobinuria is a recognised complication of Duchenne muscular dystrophy (DMD), but has only once been reported in ambulant boys on corticosteroid therapy [Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F. Remission of clinical signs in early Duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr Neurol 2002;6(3):153-9.

The family history in family practice: a questionnaire study.

Objectives: Our aims were to investigate family medical history taking in general practice, and to evaluate the value attached to the family medical history as an aid to decision making in general practice.

Method: A postal questionnaire survey was conducted among all 291 GPs working within the Calderdale and Kirklees Health Authority area. Each questionnaire was followed by a reminder.