Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. A total of 16 sequence variations in eleven mutated alleles was found. The two most common molecular defects were the mutations Q188R (46.0%) and K285N (25.7%). Six novel mutations in the GALT gene, X380R, Y209S, E340K, L74fsdelCT, Q169K and L256/P257delGCC, were detected. Three mutations, V151A, L195P and R204X that were previously described in other populations, were also found. The mutation X380R, which breaks the stop codon of the GALT gene, causes elongation of the GALT enzyme's protein chain. A deletion of four nucleotides in the 5' promoter region, in a position 116 - 119 nucleotides upstream from the initiate codon (5'UTR-119delGTCA), was revealed in Duarte (D2) alleles, in addition to N314D, IVS4nt-27g-->c, IVS5nt+62g-->a, and IVS5nt-24g-->a. An unusual molecular genotype was observed on 2 types of classical galactosemia alleles, with six variations from the normal nucleotide sequence presented in cis (mutation V151A or E340K plus five Duarte (D2) characteristic variations). In summary, galactosemia is a heterogeneous disorder at the molecular level, and mutation N314D, appears to be an ancient genetic variant of the GALT gene. Hum Mutat 15:206, 2000.

[Adenocarcinoma of the uterine cervix--retrospective clinico-pathologic study]. / Adenokarcinom delozního hrdla--retrospektivní klinickopatologická studie.

A group of 70 female patients with adenocarcinoma of the uterine cervix treated between 1976 and 1995 at the 2nd Department of Obstetrics and Gynaecology, 1st Faculty of Medicine, Charles University and General Hospital, Prague, was evaluated retrospectively. They represented 8.6% of all patients with cervical cancer in this period. The mean age was 57.9 years and increased according to the clinical stage of disease. Some features of the patient history were similar to those of endometrial cancer. The most frequent symptom was abnormal bleeding (70%). The limited importance of praebioptic diagnostic methods was confirmed. Better treatment results were achieved by the surgical or combined treatment in comparison with radiotherapy alone. From histological types the worst results had a clear cell carcinoma. The recurrence rate was 13.4%. The overall 5-year survival was 43.1% (68% for the stage 1, 40% for the stage 2 and 22% for the stages 3 + 4). The average survival time was 96.1 months.

[Ethical and psychological aspects in gynecologic oncology]. / Etické a psychologické aspekty v gynekologické onkologii.

Treatment of women suffering from malignant disease of reproductive organs has its specific ethical, deontological and psychological aspects. The disease is affecting the organs of "feminine identity" and has a very strong emotional impact on each woman. The awareness of the nature of the disease and its treatment brings a long-term stress for each patient. There is a very delicate moment in the relation between the patient and the physician: to inform about the nature of the disease, treatment and its consequences. Such information should be released only in proper time and in proper way, considering the individual character of the patient, her age, intelligence and her present somatic and psychic status. Response of each woman and her adaptability to the disease and its treatment is very individual--depending on the woman's personality, her age, education and, of course, her social background. The physician, as well as, the other personnel must be aware of this fact. They have to choose the most proper psychotherapy and provide the patient with the adequate social support.

[Monitoring of malignant gynecologic tumors using the immune response to lactate dehydrogenase virus antigens]. / Monitorování gynekologických maligních nádoru imunitní odpovedí na LDH virový antigen.

The cell mediated immunity was examined by the leukocyte adherence inhibition (LAI) test in 21 patients with CIN III and 146 patients with invasive gynaecologic malignancies before treatment and at 3-month intervals. Our own LDV antigen and organ specific antigens were used. The test was highly specific (95.1%) in comparison with a control group of healthy blood donors. The sensitivity of the test was lower (64.7-86.8%). There was no correlation with the development of disease (remission or relapse). The test in a two-year investigation does not seem suitable for monitoring of disease. Depending the nature of LDV infection, only a longer investigation extending over more years would enable further conclusions.

[Leukocyte adherence in women with ovarian carcinoma]. / Adherence leukocytu u zen s karcinomem ovaria.

Dynamic follow-up of cell-mediated immunity in women with malignant neoplasms of the ovary provides more valuable information on the course of the disease than a single value. The properties of leukocytes in patients with malignant ovarian tumours must be followed up on a longitudinal basis, as a signal of an approaching relapse of the disease is apparent sooner than its clinical manifestations. It appears that changes of biophysical mechanisms participate not only in the course of malignant ovarian disease but perhaps also in its genesis.