Expanded cytological referral criteria for colposcopy in cervical screening: comparison with human papillomavirus testing.

Objective: The goal of this study was to investigate whether expanded cytologic referral criteria for colposcopy or the addition of human papillomavirus (HPV) testing on cervical screening could improve the rates of detection of cervical intraepithelial neoplasia (CIN).

Methods: HPV testing by semiquantitative polymerase chain reaction/ELISA was performed in 1000 women who were self-referred for routine Pap smear. They underwent colposcopy following an abnormal smear result or a positive HPV test.

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).

X-linked spinal and bulbar muscular atrophy is characterized by adult onset motor neuron disease and results from a defect in the androgen receptor. The disease is caused by a dynamic mutation in the first exon of the androgen receptor gene, involving a CAG trinucleotide repeat. We have developed a single-cell polymerase chain reaction assay for the androgen receptor gene and describe the application of this assay for preimlantation genetic diagnosis (PGD) in a couple at risk, where the female partner is a carrier of 47 repeats.

The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women.

Several genetic polymorphisms are implicated as determinants of bone mineral density (BMD) in postmenopausal women. These include the Sp1 polymorphism of the collagen type I alpha 1 (COLIA1) gene, the FokI and BsmI polymorphisms of the vitamin D receptor (VDR) gene, and the PvuII and XbaI polymorphisms of the estrogen receptor (ER) gene. The relative importance and the independence of these genetic effects have not been studied simultaneously in the same population.

Increased prevalence of GSTM(1) null genotype in patients with myelodysplastic syndrome: a case-control study.

Background And Objective: Myelodysplastic syndromes (MDS) are clonal disorders of bone marrow stem cells characterized by ineffective hematopoiesis leading to blood cytopenia; they often progress to acute myeloid leukemia (AML). The glutathione S-transferases (GST) detoxify various agents, including those implicated in MDS. Both GSTM(1) and GSTT(1) genes have "null" alleles and are polymorphic.

Oral focal epithelial hyperplasia.

Focal epithelial hyperplasia (FEH) or Heck disease, is a rare viral infection of the oral mucosa caused by HPV 13 or HPV 32. In Caucasians there have been only a few cases reported. We present the first case in Greece in a young Caucasian girl in which HPV 13 was detected with PCR analysis.

Glutathione S-transferase null genotypes in transitional cell bladder cancer: a case-control study.

Objectives: This study was conducted (1) to examine whether the GSTM1 and GSTT1 null genotypes are risk factors for bladder cancer, and (2) to study a possible association of these genotypes with disease severity.

Methods: This case-control study was undertaken over a 21-month period and included 89 newly diagnosed transitional cell bladder cancer patients and 147 controls; both patients and controls originated from a defined population (residents of the loannina region, Northwestern Greece) and were similar with regard to mean age, male to female ratio and smoking habits. The GSTM1 and GSTT1 genotypes were identified by multiplex polymerase chain reaction on peripheral blood DNA samples.

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

The technology and application of arrayed primer extension (APEX) is presented. We describe an integrated system with DNA chip and template preparation, multiplex primer extension on the array, fluorescence imaging, and data analysis. The method is based upon an array of oligonucleotides, immobilized via the 5' end on a glass surface.

Spontaneous evolution of human papillomavirus infection in the uterine cervix.

Background: Little is known about the natural history and the malignant potential of low-grade cervical intraepithelial neoplasia associated with human papillomavirus (HPV) infection. Cervical cancer remains the second most frequent cause of death in women across the world. Epidemiologic and molecular studies have shown that human papillomavirus (HPV) is associated with cervical carcinogenesis.

Analysis of chromosomal aberrations in breast cancer by comparative genomic hybridization (CGH). Correlation with histoprognostic variables and c-erbB-2 immunoexpression.

The establishment of additional powerful prognostic markers in breast cancer patients is of unquestionable importance given that breast cancer is characterized by morphologic, biologic and genetic heterogeneity. In the present study we analyzed 8 primary invasive breast carcinomas by comparative genomic hybridization (CGH) in order to find and map the DNA copy number changes occurring in these tumors. Furthermore, in order to evaluate the potential prognostic significance, we compared these genetic changes with other histo- and immunopathologic prognostic variables, such as tumor type, tumor grade, lymph node status, estrogen receptors content and c-erbB-2 oncoprotein expression.

Effect of recombinant human erythropoietin in preterm infants.

Twenty-five premature infants (mean gestational age+/-SD, 31.4+/-1.9 weeks) were administered subcutaneously recombinant human erythropoietin (rHuEpo) at a dose of 300 u/kg of body weight three times a week beginning on the third day of life and continuing for 6 weeks.

Association of estrogen receptor gene polymorphisms with endometriosis.

Objective: To explore the association of the estrogen receptor two-allele (point) polymorphism and multiallele (microsatellite) polymorphism with endometriosis.

Design: Case-control study.

Setting: Genetics and Endoscopy Unit, Department of Obstetrics and Gynecology, Ioannina University HOSPITAL, Ioannina, Greece.

Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction.

We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9). FRAXA premutation was found in one woman with familial POF. A significant association of familial POF and FRAXA premutation carriers with POF having low copy of the (TA)n polymorphism as compared to controls was observed.

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

This study presents the first large, population-based molecular investigation of the fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic populations of Greece and Cyprus. The aims of this population screening were to determine the prevalence of FRAXA and FRAXE syndromes among idiopathic mentally retarded (IMR) individuals, to estimate the incidence in the general population, and to investigate the molecular mechanism of instability and expansion of the FMR1-repeat. Ten FRAXA patients were identified to have either the full mutation (eight) or premutation (two) from a Hellenic population of 866 unrelated IMR individuals (611 males and 255 females, age range 3-25 years).

Genotypes of N-acetyltransferase-2 and risk of bladder cancer: a case-control study.

Purpose: This study was conducted to examine whether certain slow N-acetylation genotypes could be risk factors for bladder cancer, and the possible association between specific genotypes and the severity of the disease at first diagnosis.

Materials And Methods: This case-control study included 89 patients with transitional cell bladder cancer (diagnosed over a period of 21 months) and 147 controls. N-acetyltransferase-2 (NAT-2) genotypes were identified by allele specific polymerase chain reaction (PCR) on peripheral blood DNA samples.

Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype.

We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.

Recombinant human erythropoietin treatment of postpartum anemia. Preliminary results.

Objectives: The aim of this study was to investigate the efficacy of recombinant human erythropoietin (rHuEpo) in postpartum anemia.

Study Design: At the University Hospital of Ioannina, rHuEpo was administrated subcutaneously to twenty anemic women (hemoglobin [Hb]<10 g/dl), for 15 days following delivery; all were given iron and folic acid per os. Twenty other women (the control group) with postpartum anemia (Hb<10 g/dl), received only iron and folic acid.

The thalassemia syndromes and pregnancy, molecular basis, clinical aspects, prenatal diagnosis.

Thalassemies are the most common inherited disorders, occur at high frequency in endemic regions as the Mediterranean countries, Middle East, North Africa, Asia, and are associated with hypochromic, hemolytic anemia. For several years, immigrations increased the possibility of transferring the thalassemic genes to Europe and North America. A review of the pathophysiology and molecular basis of the thalassemias is presented in this paper.

Effect of Percoll gradient and swim-up preparation on the chromomycin A3 staining of normal and abnormal semen samples.

The protamination of spermatozoa recovered by Percoll gradient and swim-up was investigated by means of chromomycin A3 (CMA3) staining. A total of 34 semen samples from patients undergoing IVF treatment were divided in two groups: normal (A) and oligoasthenozoospermic (B). Samples were divided in fractions, subjected to both techniques of preparation, and stained by CMA3.

Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.

Microsatellites have been used for human evolution and origin studies by comparing their frequency, diversity, and allele size. In this study we report the analysis of three microsatellite loci, FMR1 CGG and flanking DXS548 and FRAXAC2, in three separate groups of the Hellenic population: Athens, representing the general Hellenic population; Epirus (northwest Greece); and Cyprus. Significant variations in frequency and diversity were found in the three groups.

The role of deoxyribonuclease I in amniotic fluid during pregnancy and labour.

The purpose of this study was to detect the presence, and determine the normal values and the significance of DNase I in the amniotic fluid and in human placentas. Fifty-one pregnant women at 16-22 weeks of gestation and 89 women in spontaneous labour at term were recruited to the study. DNase I activity was measured in amniotic fluid and cytoplasmic extracts from the fetal portion of placentas by using a spectrophotometric technique (DNA precipitation assay) and nucleic acid electrophoresis, following degradation of the DNA by the enzyme.

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.

Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by means of cytogenetic and molecular methods of 433 unrelated retarded individuals and their parents of Hellenic origin coming from various parts of Greece and Cyprus. The purpose of the study was to estimate the frequency of FRAXA mutation in individuals with nonspecific mental retardation without family history and phenotypic stigmata in the Hellenic population.

Fetal heart rate following coelocentesis.

For psychological reasons, coelocentesis was performed in 20 women prior to termination of pregnancy, at 6-11 weeks of gestation. The fetal heart rate (FHR) was measured immediately before the procedure and at 1, 5, and 10 min afterward. There was no significant difference between FHR before coelocentesis compared to the values at 1 min (mean = 158, range 114-178; z = -0.

Increased nuchal translucency thickness in a fetus at risk for beta-thalassaemia.

In Greece and other Mediterranean countries up to 10% of the population are carriers of beta-thalassaemia and this is the most common indication for chorion villus sampling (CVS): Cytogenetic analysis of the samples is not carried out routinely, but is confined only to women aged 35 years or more. In this report we present a case that illustrates how the measurement of fetal nuchal translucency may be useful in selecting the cases where in addition to the DNA analysis for beta-thalassaemia the samples can be tested for chromosomal defects.

Aplastic anemia. Report of a case with recurrent episodes in consecutive pregnancies.

Background: Aplastic anemia complicating normal pregnancy is a rare event, associated with increased risks for both mother and fetus.

Case: A 30-year-old woman in her fifth pregnancy experienced the complications of aplastic anemia and preeclampsia. The patient had a history of four unsuccessful previous pregnancies also complicated by aplastic anemia, but she was free of the disease in the intervals between the pregnancies.