Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS.

Prednisone dosing per body weight or body surface area in children with nephrotic syndrome: is it equivalent?

The current guidelines recommend a dosage of prednisone of 60 mg/m(2) body surface area per day (BSA PRED) for the initial therapy of nephrotic syndrome (NS). Alternatively, a dosage of 2 mg/kg body weight per day (W PRED) can be used. We hypothesized that the BSA PRED and W PRED are not equivalent and analyzed the differences between BSA PRED calculated with various formulas for body surface area (BSA), W PRED and the dose of prednisone prescribed for our patients.

A study of a multi-source feedback system for international medical graduates holding defined licences.

Objective: To develop and assess the feasibility and psychometric properties of multi-source feedback questionnaires to monitor international medical graduates practising in Canada under 'defined' licences.

Method: Four questionnaires (patient, co-worker, colleague and self) were developed and administered in 2 phases through paper-based and telephone or Internet formats. Reliability was assessed with Cronbach's alpha and generalisability coefficient analyses.

The Canadian Enuresis Study and Evaluation--short- and long-term safety and efficacy of an oral desmopressin preparation.

Objective: To evaluate the long-term (12 months) efficacy and safety of oral desmopressin (DDAVP).

Material And Methods: A total of 256 healthy children (6-18 years old) with nocturnal enuresis with a frequency of > or = 10 wet nights during a 4-week observation period were eligible for inclusion in the study. Initially 0.

Enuresis: A maturational lag.

ENURESIS IS NOT A DISEASE, BUT A DISORDER CAUSED BY DELAYS IN THE MATURATION OF THREE PHYSIOLOGICAL PROCESSES: persistence of spontaneous bladder contractions, bladder volume exceeding the nocturnal functional bladder capacity and persistence of elevated sleep/arousal thresholds. Enuresis has been subtyped into two different groups, depending on whether the predominant feature is frequent small voidings (excessive bladder contractions) or large urinary volume (volume-dependent). The clinical pattern demonstrated by the enuretic child depends on the severity of the maturational lag.