[Anthropologic study of women with hyperphenylalaninemia].

Objective: Anthropometric investigation in women with hyperphenylalaninemia.

Design: Retrospective clinical study.

Setting: Department of Obstetrics and Gynecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of clinical Biochemistry, Hematology and Immunology of Hospital Na Homolce in Prague.

[Sexual life of women with hyperphenylalaninemia].

Objective: Characteristics of sexual life in women with hyperphenylalaninemia.

Design: Anamnestic study.

Setting: Department of Obstetrics and Gynaecology and Institute of Inherited Metabolic Disorders of General Faculty Hospital and 1st Medical Faculty of Charles University in Prague, Department of Clinical Biochemistry, Haemathology and Immunology of Hospital Na Homolce in Prague.

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Mutations, haplotypes, and other polymorphic markers in the phenylalanine hydroxylase (PAH) gene were analysed in 133 unrelated Czech families with classical phenylketonuria (PKU). Almost 95% of all mutant alleles were identified, using a combination of PCR and restriction analysis, denaturing gradient gel electrophoresis (DGGE), and sequencing. A total of 30 different mutations, 16 various RFLP/VNTR haplotypes, and four polymorphisms were detected on 266 independent mutant chromosomes.

[Is the anti-selection initiative in reproductive medicine anti-biological?].

The human reproduction has the monotocial element of K strategy (nidifungous) with mature newborn mammals and also of the r strategy (nidiculous) with immature mammals. There are questions about "contra naturam" antiselective practice in the treatment of extremely premature newborns. Allometric equations were calculated form 93 species of mammals: Mneo = 0.