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1.
Prenat Diagn ; 18(4): 390-2, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9602488

ABSTRACT

In the application of the fluorescence in situ hybridization (FISH) technique for prospective prenatal screening of common aneuploidies involving the autosomes 13, 18, and 21, and sex chromosomes, six cases of inconsistency between the results of FISH analysis and the results of karyotyping of cultured amniocytes have been observed, including two cases of translocation involving the Y-chromosome and chromosome 15 in a total of 904 cases of amniocentesis studied. In one case, the translocation was of maternal origin, and in the other, of paternal origin. In both cases, the couples decided to continue the pregnancy and normal babies were delivered. The data show the usefulness of applying the FISH technique in prospective prenatal screening of common trisomies for the possible detection of rare chromosome rearrangements involving the Y-chromosome.


Subject(s)
Aneuploidy , In Situ Hybridization, Fluorescence , Prenatal Diagnosis/methods , Translocation, Genetic , Y Chromosome , Chromosomes, Human, Pair 15 , Female , Humans , Karyotyping , Pregnancy , Prospective Studies
2.
Am J Clin Oncol ; 19(2): 125-31, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8610634

ABSTRACT

We conducted a multiinstitutional phase II clinical trial to determine the toxicity, response, and survival rate of concurrent 72-h continuous infusion of etoposide and cisplatin in patients with metastatic breast cancer. A total of 26 women were enrolled, 4 of whom received no prior chemotherapy for metastatic disease. All patients were evaluated for toxicity, response, and survival employing the National Cancer Institute (NCI) Common Toxicity Criteria and the Eastern Cooperative Oncology Group (ECOG) response criteria. A total of 84 cycles of therapy were administered, median 3 (range 1 to 6). Severe grade 3 and grade 4 neutropenia occurred in 22 cycles (26%), and there were only 11 episodes (11%) of similar grade thrombocytopenia. Nausea and vomiting were seen in one third of cycles. A single patient (4%) had a complete remission, and seven patients (27%) had partial remissions for an overall objective response rate of 31% (95% confidence interval, 13 to 49%). Three of four patients (75%) without prior therapy for metastatic disease had objective responses. Median survival was 7 months. This combination regimen is active in extensively treated patients with metastatic breast cancer. It is responsible to further investigate the role of etoposide-cisplatin combination chemotherapy as firstline therapy for patients with metastatic breast cancer.


Subject(s)
Antineoplastic Agents, Phytogenic/administration & dosage , Antineoplastic Agents/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Breast Neoplasms/drug therapy , Breast Neoplasms/secondary , Cisplatin/administration & dosage , Etoposide/administration & dosage , Adult , Aged , Antineoplastic Agents/adverse effects , Antineoplastic Agents, Phytogenic/adverse effects , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Cisplatin/adverse effects , Confidence Intervals , Etoposide/adverse effects , Female , Humans , Infusions, Intravenous , Middle Aged , Nausea/chemically induced , Neutropenia/chemically induced , Remission Induction , Survival Rate , Thrombocytopenia/chemically induced , Vomiting/chemically induced
3.
Prenat Diagn ; 15(9): 831-4, 1995 Sep.
Article in English | MEDLINE | ID: mdl-8559753

ABSTRACT

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.


Subject(s)
Amniocentesis , Aneuploidy , DNA, Satellite/genetics , Genetic Testing , In Situ Hybridization, Fluorescence , Adult , Amniotic Fluid/cytology , Cells, Cultured , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, Pair 13 , DNA Probes , Diagnostic Errors , Female , Humans , Karyotyping , Polymorphism, Genetic , Pregnancy , Prospective Studies
4.
Endokrynol Pol ; 43 Suppl 1: 18-23, 1992.
Article in Polish | MEDLINE | ID: mdl-1345580

ABSTRACT

Endocrinological Out-Patients Clinic at Children's Hospital in Dziekanów Lesny takes care of the children from Mazovia region. Hormonal findings in children with simple goiter were analyzed in several groups of patients. In all those patients preferential T3-secretion and decreased T4 production was found. These findings allow to conclude, that in Mazovia region there is iodine deficiency, which is probably the main cause of goiter development.


Subject(s)
Goiter, Endemic/physiopathology , Goiter, Endemic/epidemiology , Humans , Incidence , Infant , Infant, Newborn , Iodine/deficiency , Poland/epidemiology , Thyroid Function Tests , Thyroxine/biosynthesis , Triiodothyronine/metabolism
5.
Endokrynol Pol ; 42(3): 389-96, 1991.
Article in English | MEDLINE | ID: mdl-1364487

ABSTRACT

Thyroid function was investigated in a group of 61 newborns with congenital goiter before starting the therapy with thyroid hormones. The group included 19 girls and 42 boys, of which 27 were of age not exceeding one week (group I), 19 were between the first and the second week (group II), and 15 were between the second week and the third month of life (group III). The concentrations of the thyroid hormones were determined by radioimmunoassay. The values obtained have been compared with the local reference range obtained for the newborns of the Mazovia region. The values remaining outside the reference range were found in 47.5% of the newborns studied. The elevated values of TSH were observed mainly in group I newborns (12 from 27); among group II newborns there was only one with the elevated values, and none among the newborns of group III. thyroxine (T4) values were lowered in 14 among 27 newborns of group I, and in 2 among 19 newborns of group II; all T4 values were normal in group III. The percentage of the elevated values of triiodothyronine (T3) was higher in older newborns (group III). The elevated level of T3 accompanied by the lowered level of T4 with the normal or moderately elevated level of TSH is characteristic for the adaptation to the deficiency of iodine. There is preferential secretion of T3 aimed at maintaining euthyreosis. The elevated levels of T3 found in 30% of newborns with untreated goiter suggest an intrauterine deficit of iodine as a cause of the goiter appearance.(ABSTRACT TRUNCATED AT 250 WORDS)


Subject(s)
Goiter, Endemic/blood , Goiter, Endemic/congenital , Female , Fetal Blood/chemistry , Humans , Infant , Infant, Newborn , Iodine/deficiency , Male , Poland , Thyrotropin/metabolism , Thyroxine/metabolism , Triiodothyronine/metabolism
6.
J Med Genet ; 25(11): 780, 1988 Nov.
Article in English | MEDLINE | ID: mdl-3236358
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