Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study.

Purpose: Phenylketonuria (PKU) still poses a therapeutic challenge for patients and medical professionals. The aim of the study was to assess both patients' and their parents' acceptance of the disease.

Methods: The study included 218 PKU patients and 178 parents of PKU children who were enrolled in the study on the basis of questionnaire data.

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.

Disruption of monoamines metabolism leads to diverse manifestations, including developmental, movement and respiratory dysfunctions. We aimed to correlate clinical phenotypes of 55 children with neurodevelopmental disorders with dopamine (HVA) and serotonin (5-HIIA) metabolites in CSF. Decreased level of at least one metabolite was documented in 49.

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures.

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

Du Pan syndrome is a rare acromesomelic dysplasia with characteristic clinical and radiographic findings. It is inherited as an autosomal recessive trait. Almost all the patients reported have been from Muslim countries.

Serum homocysteine and lipoprotein (a) concentrations in hypercholesterolemic and normocholesterolemic children.

The relationship between lipids, lipoproteins, total homocysteine, and lipoprotein (a) was studied in hypercholesterolemic and normocholesterolemic children. In hypercholesterolemic children, concentrations of total cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein B, and triglycerides were significantly higher compared to levels in controls, whereas concentrations of high-density lipoprotein (HDL) cholesterol and apolipoprotein A-I were lower compared to those in the control group. Total serum homocysteine concentrations in children with a positive family history for cardiovascular disease CHD(+) (7.

Coping strategies in CF families.

Thirty couples, parents of CF children were tested by means of the following methods: The Personal and Illness Orientation Questionnaire, The Social Support Scale, The Coping Health Inventory for Parents (McCubbin et al.). The results show that the most important matters to both parents are: confidence in mutual assistance, optimistic outlook at the health prospects of the child, active participation in the development of the child's independence.

Influence of streptolysin S on lymphocyte functions.

Streptolysin S, which was found to be cytotoxic for mouse and human lymphocytes and particularly for their T subpopulation, was also shown to affect some of the functions ascribed to T lymphocytes. In vitro studies demonstrated that streptolysin S-pretreated lymphocytes exhibited reduced responsiveness to phytohemagglutinin and decreased lymphokine production. Streptolysin S could also alter the immune response of mice in vivo.