Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals.

Objectives: The aim of this study is to present a survey of vulnerabilities and to suggest approaches for the treatment of rare diseases according to the perceptions of a group of affected individuals, patient association representatives and health care professionals.

Methods: The focus group technique was used in interviews with patients and primary caregivers, patient support groups/non-governmental organizations, primary health care professionals and physician specialists.

Results: The transcript analysis focused on thematic units, which were tailored to each group and allowed comparisons in search of concordant views.

Flow-through peritoneal dialysis in neonatal enema-induced hyperphosphatemia.

Fleet enemas are hypertonic solutions with an osmotic action and a high concentration of phosphate. When retained in the human body they have a great toxic potential, causing severe hydro-electrolyte disorders in children, especially in newborns. We report the case of a previously healthy 8-day-old newborn who needed neonatal intensive care treatment after the inadvertent administration of an osmotically active hypertonic phosphate enema.

Final height of adults with childhood-onset steroid-responsive idiopathic nephrotic syndrome.

The aim of this study was to evaluate the final stature of adults with childhood-onset steroid-responsive idiopathic nephrotic syndrome (INS) and the influence of disease-related issues on the achievement of their target heights. We analyzed 60 (41 male) patients and/or their records, with a minimum age of 19 years or at a Tanner's pubertal stage 4 for boys or status postmenarche for girls, and normal glomerular filtration rate. Mean age at first and last consultation was 5.

Evaluation of antibody response to the heptavalent pneumococcal conjugate vaccine in pediatric chronic kidney disease.

Pneumococcal vaccination has been recommended for immunocompromised children, including patients with chronic kidney disease. We determined pneumococcal immunoglobulin (Ig)G antibodies to serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F before and after 48 pediatric patients with chronic renal failure were administered heptavalent conjugated pneumococcal vaccine. The patients were between 1 and 9 years of age and were separated into a conservative treatment group (Group 1) and a dialysis group (Group 2).

[Evaluation of the Omron 705-CP blood pressure measuring device for use in adolescents and young adults].

Objective: To assess the Omron 705-CP monitor for measuring blood pressure in adolescents and young adults.

Methods: According to the protocols of the British Hypertension Society and the Association for the Advancement of Medical Instrumentation, we performed validation of the device in 60 adolescents. The Omron monitor was connected in Y to a mercury column.

Influence of nephrotic state on the infectious profile in childhood idiopathic nephrotic syndrome.

Unlabelled: Patients with idiopathic nephrotic syndrome present alterations in their cellular and humoral immune reactions that predispose them to the development of infectious processes.

Purpose: To characterize the infectious processes in patients with idiopathic nephrotic syndrome.

Patients And Methods: Ninety-two children and adolescents with idiopathic nephrotic syndrome were assessed retrospectively.

Casual blood pressure and ambulatory blood pressure measurement in children.

Some epidemiological studies on blood pressure among children and adolescents have revealed that blood pressure levels in childhood are the strongest predictors of adult blood pressure levels. In the adult population, hypertension causes a two to threefold increase in an individual's risk of cardiovascular morbidity. Cardiovascular risk depends on blood pressure itself, coexistent risk factors and whether there is hypertensive end-organ damage.