No abstract

In the third trimester, the main PA:Ao ratio as measured in the fetal mediastinum can be a helpful tool in distinguishing true CoA requiring neonatal cardiac surgery from false-positive CoA and simple disproportion requiring medical attention but no surgery in the first month of postnatal life.

The regulatory influence of the pineal gland on superficial wound healing and collagen content is documented. The aim of the present study was to determine whether the pineal gland and its secretory product melatonin regulate collagen accumulation in the scar of the infarcted heart and to explain the mechanisms of its action. To induce myocardial infarction in rats the left coronary artery was ligated. Metoprolol at the dose of 0.2 mg/100 g body weight (b.w.) was injected intraperitoneally to inhibit melatonin secretion. Pinealectomy was performed on some animals. For the in vitro study, cells were isolated from the heart scar and cultured in Dulbecco's modified Eagle medium with 3% fetal calf serum and antibiotics. Collagen content was evaluated as hydroxyproline content according to the Woessner method. Melatonin subcutaneously injected into the rats at the doses of 30 microg/100 g or 60 microg/100 g b.w. increased collagen accumulation in the heart scar. The doses of 3 microg/100 g b.w. and 300 microg/100 g b.w. were not effective. Surgical and pharmacological pinealectomies had opposite effects and reduced collagen content in the scar. However, melatonin administration (60 microg/100 g b.w.) to pinealectomized rats reversed the effect of pinealectomy and normalized collagen levels in heart after infarction. Cells isolated from the heart scar were identified as myofibroblasts. Melatonin (10(-7)-10(-8) m) increased collagen accumulation in the cultures. Collagen accumulation in the scar of the infarcted heart is regulated by melatonin and it exerts effects directly on the myofibroblasts of the infarcted area. Therefore, melatonin-induced collagen accumulation in the infarcted heart could be considered as the event improving the tensile strength of the scar and retarding the development of complications.

Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a sample of 101 previously unreported pedigrees of der(13;14)(q10;q10). In order to minimize problems of partial ascertainment, we included families with a wide range of reasons of ascertainment such as birth of a child with congenital anomalies, prenatal diagnosis due to maternal age, fertility problems and recurrent pregnancy loss. No evidence of increased infertility rates of female and male carriers was found. The detected miscarriage frequency of female carriers was higher than previously reported (27.6 +/- 4.0% of all spontaneous pregnancies). This may be explained by an over-correction of earlier studies, which excluded all unkaryotyped miscarriages. In three out of 42 amniocenteses, translocation trisomies 13 were diagnosed (7.1 +/- 4.0% of all amniocenteses). The frequency of stillbirths was 3.3 +/- 1.6% for female carriers and 1.4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample.

The causes of the chromosome abnormalities have been studied for decades. It has been suggested that exposure to various environmental agents can induce chromosomal abnormalities in germ cells. This study was designed to address the hypothesis that exposure to specific air pollutants increases sperm disomy. The study population consisted of 212 men who were attending an infertility clinic for diagnostic purposes. They represented a subset of men in a multicenter parent study conducted in Poland to evaluate environmental factors and male fertility. Sperm aneuploidy for chromosomes 13, 18, 21, X, and Y was assessed using multicolor fluorescence in situ hybridization. Air quality data were obtained from the AirBase database. After adjusting for age, smoking, alcohol consumption, temperature (90 days), season, past diseases, abstinence interval, distance from the monitoring station, concentration, motility and morphology, positive associations were observed between exposure to PM2.5 and disomy Y (P = 0.001), sex chromosome disomy (P = 0.05) and disomy 21 (P = 0.03). Exposure to PM10 was associated with disomy 21 (P = 0.02). Conversely, exposure to ozone, CO, SO2, and NOx did not affect sperm aneuploidy. A separate analysis conducted among men who were nonsmokers (n = 117) showed that the relationship between PM2.5 and disomy Y and disomy 21 remained significant (P = 0.01, P = 0.05, respectively). The present findings indicate that exposure to air pollution induces sperm aneuploidy.

Survival is not different between neonates with single and multiple tumors and between those with and without congestive heart failure.

We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.

<b><i>Objective:</i></b> To evaluate the efficiency of percutaneous intratumor laser ablation for fetal solid sacrococcygeal teratoma (SCT). <b><i>Subjects and Methods:</i></b> We carried out percutaneous ultrasound-guided intratumor laser ablation through a 17-gauge needle using an output of 40 W in 7 fetuses with large solid SCT and reviewed the literature for minimally invasive therapy for this condition. <b><i>Results:</i></b> Laser ablation was carried out at a median gestational age of 20 (range 19–23) weeks, and in all cases there was elimination of obvious vascularization within the tumor and improvement in cardiac function. Three (43%) babies survived and had surgical excision of the tumor within 2 days of birth, 3 liveborn babies died within 5 days of birth and before surgery, and 1 fetus died within 2 weeks after the procedure. In previous series of various percutaneous interventions for predominantly solid SCT the survival rate was 33% (2/6) (95% CI 9.7–70%) for endoscopic laser to superficial vessels, 57% (4/7) (95% CI 25–84%) for intratumor laser, 67% (8/12) (95% CI 39–86%) for intratumor radiofrequency ablation, and 20% (1/5) (95% CI 3.6–62%) for intratumor injection of alcohol. <b><i>Conclusions:</i></b> In solid SCT, the reported survival from intratumor laser or radiofrequency ablation is about 50%, but survival does not mean success, and it remains uncertain whether such interventions are beneficial or not because the number of fetuses is small and there were no controls that were managed expectantly.