Prenatal diagnosis of hypochondroplasia: report of two cases.

Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor.

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

Objective: We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.

Methods: Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus.

Results: Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis.

Numerical aberrations of chromosomes 1 and 7 by fluorescent in situ hybridization and DNA ploidy analysis in breast cancer.

The goals of this study were to detect the numerical alterations of chromosomes 1 and 7 in breast cancer and to correlate the findings with DNA ploidy status as well as with parameters of prognostic significance. Fluorescence in situ hybridization (FISH) with centromeric probes for chromosomes 1 and 7 and cellular DNA content measurement by image analysis-based cytophotometry were applied on interface nuclei from fresh tissue imprints of 59 breast ductal carcinomas. Immunohistochemical stainings for estrogen receptor (ER), progesterone receptor (PR), HER-2, p53, and Ki67 were performed on paraffin tumor sections.

Herpes simplex virus as a determinant risk factor for coronary artery atherosclerosis and myocardial infarction.

Background: Viruses have been detected in atherosclerotic and non-atherosclerotic vascular tissues and may be involved in the mechanisms of atherogenesis. In the present study, we investigated the role of herpes simplex virus (HSV) in the early and late stages of coronary artery atherosclerosis.

Methods And Results: HSV prevalence was investigated in coronary artery samples from 42 autopsy cases, in which death was related to myocardial infarction (MI), and 28 young age autopsy cases without heart disease, who had died from fatal injuries (young victim group), using nested polymerase chain reaction (nPCR) and the highly sensitive in situ hybridization with tyramide signal amplification (ISH-TSA).

Morphology, molecular regulation and significance of apoptosis in pituitary adenomas.

Apoptosis represents energy-requiring spontaneous single cell death, with specific morphologic and biochemical features. It is a rapidly processed sequence of events resulting in elimination of damaged cells. Apoptosis occurs in physiological remodeling and proliferative conditions, and also in neoplastic lesions.

The effects of recombinant human erythropoietin given immediately after delivery to women with anaemia.

Objective: Anaemia is a common problem during pregnancy and the puerperium. This study was designed to determine the efficacy and safety of giving recombinant human erythropoietin (EPO) to anaemic women during the puerperium.

Method: Thirty-seven women received a single dose of EPO (20 000 IU intravenously) immediately after delivery.

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.

The clinical significance of trisomy 20 mosaicism detected prenatally remains uncertain due to the rarity of liveborn cases with inconsistent clinical findings, and lack of long-term follow-up and outcome. We describe a case of true trisomy 20 mosaicism in a liveborn girl with maternal uniparental isodisomy of chromosome 20 in the diploid blood cells. Trisomy 20 mosaicism was originally detected in amniotic fluid (98%) and was confirmed in the term placenta (100%), as well as in the blood (10%) and urine sediment (100%) of the neonate.

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis.

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: beta-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status.

Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.

Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15.

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene and is one of the most frequent disease mutations identified to date. We have previously reported a carrier frequency of 35delG of 3.

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.

The GJB2 (connexin 26) gene, one of the major genes responsible for autosomal recessive deafness, has been investigated previously by a variety of techniques, including PCR-SSCP and sequencing of the entire gene for screening of unknown mutations, and allele-specific PCR, ASO, and PCR-mediated site-directed mutagenesis for the detection of the common mutation 35delG. Here, we present the development of a DGGE method for the characterization of the full spectrum of mutations in the GJB2 gene. The GJB2 cDNA and flanking sequences were amplified in three overlapping segments.

Detection of herpes simplex virus DNA in maternal breast milk by in situ hybridization with tyramide signal amplification.

In this study we investigated the prevalence of herpes simplex virus 1 (HSV-1) and 2 (HSV-2) in maternal breast milk using the technique of in situ hybridization combined with the sensitive detection system of tyramide signal amplification. Breast milk samples were collected from both breasts of 34 puerperals 4-5 days after delivery. HSV DNA was detected in 16 out of 34 examined breast milk specimens.

Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors.

Objective: To evaluate hereditary and acquired hemostatic abnormalities associated with recurrent spontaneous early (first-trimester) abortions.

Method: A group of 56 Greek women with two or more unexplained primary spontaneous abortions, and a reference group of 148 women without a history of recurrent abortions, were screened for hypercoagulability. A randomly selected population of first-trimester pregnant women was also chosen for factor V Leiden genetic screening.

Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors.

The pathogenesis of venous thrombosis involves the interaction of genetic and environmental factors. In order to estimate the frequency of the factor V Leiden, the prothrombin G20210A, and the MTHFR C677T mutations in the Greek population, we analyzed 160 healthy Greek blood donors by PCR amplification and detected allele frequencies of 2.5%, 2.

Detection of herpes simplex virus DNA in human spermatozoa by in situ hybridization technique.

The role of herpes simplex virus (HSV) in male infertility has been investigated using the localizing ability of in situ hybridization technique. Sperm samples obtained from 80 men attending a maternity center because of fertility problems were classified by spermogram and analyzed for the presence of HSV-1 and HSV-2 DNA using digoxigenin-labelled DNA probes. HSV DNA was detected in the nuclei of spermatozoa in 37 semen samples (46%), HSV-1 specifically in 21 cases (26%) and HSV-2 in 16 cases (20%).