ABSTRACT
Tetrahydrobiopterin (BH4) has been recently approved as a treatment of patients with phenylketonuria. However, as a confirmation of BH4-responsiveness, it might require a very expensive trial treatment with BH4 or prolonged BH4-loading procedures. The selection of patients eligible for BH4-therapy by means of genotyping of the PAH gene mutations may be recommended as a complementary approach. A population-wide genotyping study was carried out in 1286 Polish phenyloketonuria-patients. The aim was to estimate the BH4 demand and to cover prospectively the treatment by a National Health Fund. A total of 95 types of mutations were identified. Genetic variants corresponding with probable BH4-responsiveness were found in 28.2% of cases. However, patients with mild or classical phenylketonuria who require continuous treatment accounted for 11.4% of the studied population only. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe. Therefore, it can be concluded, that the proportion of phenylketonuria-patients who could benefit from the use of BH4 reaches approximately 10% in the entire region.
Subject(s)
Biopterins/analogs & derivatives , Mutation/genetics , Phenylalanine Hydroxylase/genetics , Phenylketonurias/drug therapy , Biomarkers, Pharmacological , Biopterins/administration & dosage , Genotype , Humans , Phenylalanine/deficiency , Phenylalanine/genetics , Phenylketonurias/genetics , PolandABSTRACT
Natural, sudden deaths in children are the cause of about 5% of all deaths. The most frequent cause appears to be pathology of the cardiovascular system. Direct cause of death are arrhythmias or, rarely, haemodynamic disturbance coexisting with decrease in minute cardiac output. Authors present the most frequent diseases (myocarditis, hypertrophic cardiomyopathy, long QT syndrome and preexcitations syndromes) as well as congenital heart defects (aortic stenosis, tetralogy of Fallot, transposition of the great arteries, Ebstein's syndrome, anomalies of coronary arteries) which can be causes of sudden death in childhood.
Subject(s)
Arrhythmias, Cardiac/diagnosis , Cardiomyopathies/diagnosis , Death, Sudden, Cardiac/etiology , Heart Defects, Congenital/diagnosis , Heart Valve Diseases/diagnosis , Arrhythmias, Cardiac/complications , Cardiomyopathies/complications , Child , Heart Defects, Congenital/complications , Heart Valve Diseases/complications , HumansABSTRACT
In the second part of the paper we present ophthalmic complications of fungal infections in immunocompromised patients. Among about 200,000 known species of fungi, only approximately 200 are pathogenic for human. Many of them are not able to cause a disease in persons with normal immunity, but in immunocompromised patients they are the cause of severe, frequently lethal disorder. Most important agents are Candida albicans, Cryptococcus neoformans, Aspergillus fumigatus and Histoplasma capsulatum. Pneumocystis carnii, formerly considered to be a protozoan, currently is rated among fungi, and plays a very important role as a opportunistic pathogen in patients with AIDS. There are presented data about ocular involvement during fungal opportunistic infections--symptoms and clinical picture as well as methods of diagnosing and treatment.
