ABSTRACT
The paper describes a case of hereditary thesaurismosis - galactosemia in neonate infant with mutation of GALT-gene (Q188R/N) and vascular malformation of the internal organs.
Subject(s)
Abnormalities, Multiple/diagnosis , Galactosemias/diagnosis , Vascular Malformations/diagnosis , Abnormalities, Multiple/blood , Abnormalities, Multiple/genetics , Fatal Outcome , Galactose/blood , Galactosemias/blood , Galactosemias/genetics , Humans , Infant, Newborn , Male , UTP-Hexose-1-Phosphate Uridylyltransferase/genetics , Vascular Malformations/blood , Vascular Malformations/geneticsABSTRACT
The data on treatment of 50 patients with endometrial stromal sarcoma (Ess) are discussed. Mean age-46.5 years. The group included 28 patients with stage I tumor, 7-stage II, 8-stage III and 7-stage IV. The end results of surgical, combined and complex treatment were followed up in 45 cases. Surgery was given to 24 and combined and complex therapy-to 21 patients. Five- and ten-year survival was 55.6 and 26.7, respectively, whatever mode of therapy and stage.
Subject(s)
Sarcoma, Endometrial Stromal/therapy , Uterine Neoplasms/therapy , Adult , Aged , Antineoplastic Agents/administration & dosage , Antineoplastic Agents/therapeutic use , Combined Modality Therapy , Evaluation Studies as Topic , Female , Humans , Hysterectomy , Middle Aged , Neoplasm Metastasis , Radiotherapy Dosage , Sarcoma, Endometrial Stromal/mortality , Sarcoma, Endometrial Stromal/radiotherapy , Sarcoma, Endometrial Stromal/surgery , Time Factors , Uterine Neoplasms/mortality , Uterine Neoplasms/radiotherapy , Uterine Neoplasms/surgeryABSTRACT
Using mAb ICO-160, we have studied Fas (APO-1/CD95) antigen expression on blood lymphocytes from healthy women, pregnant women and patients with chronic adnexitis, uterin myoma, ovarian cyst, ovarian and uterin cancer. In peripheral blood from healthy women Fas antigen was detected on 23.42 +/- 2.9% of lymphocytes. The healthy donors were divided in two different subgroups with low and high Fas expression. Expression of Fas antigen on lymphocytes was elevated (high expression subgroup) in all the groups of investigated patients, excepting the ovarian cancer ones with Fas expression similar to that in healthy donors. Comparison of expression of other differentiation antigens between healthy donors and the above groups of patients elucidated in the patients a kind of pronounced imbalance of the immune status and activation of the immune system. Additionally, in patients with ovarian cancer the imbalance of the immune status was reflected as altered ratio between helper and suppressor cells (the ratio was 0.73 in contrast to that 1.08 in group of healthy donors). As follows from the summarized results of all the trials, Fas antigen expression correlated with expression of other activation antigens as CD71 and CD25 (r = 0.05 and r = 0.52, respectively). Consequently, Fas (APO-1/CD95) antigen may be considered as the activation antigen and its expression may be used for assessing the immune status.