Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Background: Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA).

Objectives: We analysed three probands (later discovered to be siblings) suspected to have severe SMA, however, not confirmed by genetic test.

Methods: Clinical-exome analysis (Illumina) was performed to identify causative variants, followed by Sanger sequencing confirmation in probands and other 10 family members.

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.

Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG) repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population. Although expanded alleles, premutation range and, in rare cases, also non-disease associated alleles containing uninterrupted CCTG tracts have been described, the threshold between these categories is poorly characterised.

Role of NT-proBNP in detection of myocardial damage in childhood leukemia survivors treated with and without anthracyclines.

Background: Exposure to anthracyclines (ANT) during childhood represents a high risk for development of late cardiotoxicity. Cardiotoxicity is usually detected only when clinical symptoms or progressive cardiac dysfunction have already occurred. Early detection of cardiotoxicity may lead to better therapeutic outcome.

Excess diuresis and natriuresis during acute sleep deprivation in healthy adults.

The transition from wakefulness to sleep is associated with a pronounced decline in diuresis, a necessary physiological process that allows uninterrupted sleep. The aim of this study was to assess the effect of acute sleep deprivation (SD) on urine output and renal water, sodium, and solute handling in healthy young volunteers. Twenty young adults (10 male) were recruited for two 24-h studies under standardized dietary conditions.

The effect of desmopressin on renal water and solute handling in desmopressin resistant monosymptomatic nocturnal enuresis.

Purpose: We sought to evaluate the effect of desmopressin on renal water and solute handling in children with monosymptomatic nocturnal enuresis and desmopressin resistant nocturnal polyuria compared to healthy controls.

Materials And Methods: A total of 12 patients with enuresis and nocturnal polyuria, normal bladder reservoir function and no response to desmopressin, and 10 age matched controls were enrolled in the study. Children were admitted to the hospital for a 48-hour protocol comprising urine collections and blood sampling.

Reproducibility of contrast enhanced magnetic resonance renography in adolescents.

Purpose: We sought to determine the reproducibility of magnetic resonance imaging renography using 3 different mathematical models and 2 different approaches to convert the relative signal intensity into quantitative indices. Furthermore, we wanted to examine the influence of fluid intake on the obtained renal parameters.

Materials And Methods: A total of 10 healthy volunteers 13 to 16 years old were subjected to magnetic resonance imaging 3 times within 10 weeks, including an examination where fluid intake was increased.

The role of bladder capacity in antidiuretic and anticholinergic treatment for nocturnal enuresis.

Purpose: We evaluated combination treatment with desmopressin and oxybutynin in patients with enuresis who did not respond to desmopressin monotherapy. Furthermore, we compared 2 methods of estimating bladder capacity and evaluated the ability of these methods to predict the response to desmopressin and oxybutynin.

Materials And Methods: A total of 60 children with a mean age +/- SD of 10.