Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects.

49,XXXXY syndrome is a very rare condition that is associated with a considerable more severe phenotype than classic 47,XXY Klinefelter syndrome. We present a patient with 49,XXXXY syndrome, who was first presented to an endocrinological unit at the age of 12.5 years with prepubertal genitalia.

[Unbalanced translocation 8/X in a girl].

A girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.

[Tetrasomy 9p].

A newborn male with multiple malformations and an extrachromosome is presented. The cytogenetic study of peripheral blood lymphocytes revealed tetrasomy 9p: 47,XY, + t(9;9)(pter----q13::p11----pter). The C-banding pattern provided evidence for maternal origin of the extrachromosome.

HPLC analysis of valepotriates in the north american genera plectritis and valeriana.

Reversed phase HPLC has been applied to the isolation and quantitative distribution of valepotriates in roots and aerial parts of species and subspecies of the North American Genus PLECTRITIS (Valerianaceae) and in VALERIANA SITCHENSIS ssp. SCOULERI (Valerianaceae). A semipreparative Ultrasphere ODS column was used for separation and detection of small quantities of valepotriates in crude plant extracts.

Reduced side effects by low dose of acetylsalicylic acid (ASA) in patients with myocardial infarction; estimations of serum thromboxane B2 and PGF2 alpha.

In a secondary prevention study 867 male and female patients with myocardial infarction (MI) were divided 3 weeks after onset of MI into 4 treatment groups: I - 273 patients received additionally to their common medication 1000 mg ASA/d; II - 313 patients got 60 mg ASA/d; III - 208 patients 30 mg ASA/d resp.; IV - 73 patients received no ASA administration due to ASA contraindications. One year after onset of MI the following parameters were checked: mortality, malignant arrhythmia, exercise tolerance, gastrointestinal symptoms and hemorrhage as typical side effects of ASA, formation of thromboxane B2 and PGF2 alpha in clotting whole blood.

Familial additional chromosomal fragment ascertained in amniotic cell culture.

A case with a prenatally diagnosed, additional metacentric chromosomal fragment is reported. Investigation of other family members showed that the fragment must be present in at least three generations. The pregnancy was continued and a healthy girl was born.