Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment

In a pilot study to establish fetal nucleated red blood cell (NRBC) detection in maternal blood, trisomy 13 was diagnosed by FISH analysis at 11 weeks' gestation. The NRBCs were detected after a single-step ficoll density gradient enrichment. In blood samples taken both before and after CVS, 52 and 80 NRBCs, respectively, were found to be positive for fetal haemoglobin. In 47 per cent of these cells, FISH analysis for X and Y chromosomes confirmed the fetal sex. Moreover, 48 per cent of these NRBCs showed three fluorescent signals for a chromosome 13 probe, which confirmed the diagnosis of trisomy 13, previously detected at CVS karyotyping. This is the first report of non-invasive prenatal diagnosis of trisomy 13, i.e., pre-CVS, in the first trimester. The high number of fetal NRBCs detected indicates a connection with aneuploidy, probably due to early impairment of the feto-maternal barrier.     

Interventional ultrasound in Europe

"Interventional ultrasound," defined as any diagnostic and therapeutic procedure performed under ultrasound guidance was first introduced in Europe, where its early development took place in Vienna, in Copenhagen, in Italy and in Switzerland. However, many of the applications of interventional ultrasound have been based on important pioneer work using other less-suitable needle guiding methods from the pre-ultrasound era. The European contributions to "interventional ultrasound" have especially been in the development of new puncture equipment, in the dissemination of various biopsy techniques, and draining procedures and, more recently, in the development of many different tissue-ablation techniques. The above contributions, which are outlined in this historical review, have, together with significant contributions from the rest of the world-not least from the United States and Japan-created a most efficient diagnostic as well as therapeutic tool for the benefit of our patients.     

Protein topology of presenilin 1

Mutations in a gene encoding a multitransmembrane protein, termed presenilin 1 (PS1), are causative in the majority of early-onset cases of AD. To determine the topology of PS1, we utilized two strategies: first, we tested whether putative transmembranes are sufficient to export a protease-sensitive substrate across a lipid bilayer; and second, we examined the binding of antibodies to specific PS1 epitopes in cultured cells selectively permeabilized with the pore-forming toxin, streptolysin-O. We document that the "loop," N-terminal, and C-terminal domains of PS1 are oriented toward the cytoplasm.     

Drugs and homicide by women

In this paper we use data derived from interviews with 215 female homicide offenders incarcerated or on parole in New York to examine their drug use prior to and at the time of the homicide, their victims' drug use, and their perceptions as to the drug-relatedness of the homicides. We found that about 7 out of 10 respondents had been regular users of some drug at some point in their lives prior to their incarceration, while over half had been addicted to a substance. Over one-third of the respondents who were present at the scene were "high" on a drug at the time, while about half of the victims of these homicides used drugs before the homicide. Almost two-thirds of the homicides committed by respondents who were present at the scene were perceived to be drug-related. Alcohol, crack, and powdered cocaine were the drugs most likely to be related to these homicides. The implications of our findings are discussed.     

Treatment of schizophrenic psychoses with Lyorodin

Forty-four patients suffering from acute and chronic schizophrenic psychoses were used to obtain, by using Lorr's scale (IMPS) and taking the changes in disease state observed within three months as a base, suggestions or pointers as to the proper treatment of disease with fluphenazine (lyorodin) which is a neuroleptically highly potent phenothiazine derivative. Megalomania, grandiose delusions apathetic and depressive syndromes showed marked tendencies toward major improvement. An "antiautistic" effect was observed in chronic patients. The effective dose was between 6 and 12 mg a day. The drug was well tolerated. In the majority of cases it was also necessary for antiparkinsonian drugs to be administered to patients. After twelve months of treatment, slight to major improvements or even freedom from symptoms could be observed in 28 cases (or 64%).     

Thermodynamische Berechnungen für CO<Subscript>2</Subscript>-Kältemaschinenprozesse mit ein- oder zweistufiger Verdichtung in Klimaanlagen

For the design of an (automotive) air-conditioning system which employs R744 (carbon dioxide, CO₂) as a refrigerant, thermodynamic calculations are performed for vapour compression refrigeration processes with single-stage or double-stage compression and throttle-valve expansion. The process parameters are varied systematically for an evaporation temperature of 0?°C and a CO₂-cooler exit-temperature (lowest CO₂ temperature in heat transfer to the ambient) between 15?°C and 55?°C. Their influence upon the coefficient of performance, the specific and the volumetric refrigeration capacities is described. For the double-stage compression cycle, the ratio of the high-pressure and low-pressure mass flows is determined, too. The double-stage compression with interstage cooling and internal heat exchanger in the low- or high-pressure cycle shows the potential for a substantial increase in coefficient of performance relative to the single-stage compression cycle. Thermodynamically optimized intermediate pressure, high pressure and temperature change in the internal heat exchangers are presented for CO₂-cooler exit-temperatures of 25 and 40?°C. The increase in energy efficiency is paid for by additional invest and the more complex operation of the CO₂ refrigeration unit.The results are not only valid for air conditioning systems but can also be applied in the design and operation for other applications of CO₂ refrigeration systems with an evaporation temperature of 0?°C.     

Membrane topology of the Rickettsia prowazekii ATP/ADP translocase revealed by novel dual pho-lac reporters

Here, we report the construction and characterization of dual reporters, consisting of both an Escherichia coli alkaline phosphatase (AP) gene and an alpha-fragment of the beta-galactosidase (BG) gene, for studying membrane protein topology by the gene fusion approach. Each of the reporters, when fused to periplasmic domains of polytopic proteins, produces fusions with high AP activity and, when fused to cytoplasmic domains, produces fusions with high BG activity in E. coli strains capable of alpha-complementation. The dual nature of these reporters simplifies interpretation of data obtained with poorly expressed fusions and allows one to evaluate the reliability of topological data. Deleterious effects resulting from the cell's attempt to export the full-length BG are eliminated in this approach. We describe dual indicator plates that allow for discrimination between colonies bearing cytoplasmic fusions, periplasmic fusions, and no fusions. We have generated a set of fusions to the topologically well-studied lactose permease of E. coli and demonstrated that topological information generated by these new reporters is in good agreement with the existing model. We used this new methodology for the determination of membrane topology of the Rickettsia prowazekii ATP/ADP translocase (Tlc). Our results were in agreement with the proposed in silico topological model in which Tlc traverses the cytoplasmic membrane of E. coli 12 times with its N and C termini facing the cytoplasm.