Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophrenia

A number of studies using the repeat expansion detection (RED) technique have suggested an association between unknown large CAG/CTG repeats and schizophrenia. The polymorphic CAG/CTG repeat loci CTG18.1 and ERDA1 have been reported to account for a high proportion (approximately 90%) of the large repeats detected by RED and may therefore be responsible for the cited association. The recently described locus TGC13-7a contains a highly polymorphic CTA/TAG and CAG/CTG composite repeat, and is thus another authentic candidate. In the present investigation, each locus was analysed for association with schizophrenia in a sample of 206 patients and 219 group-matched controls. No evidence for association of CTG18.1, ERDA1 and/or TGC13-7a with schizophrenia was found. The combined data accounted for only 54% of the CAG/CTG arrays of > 40 repeats found in our previous RED analysis.     

Reversibility of Effects of Very Hypotonic Fluids on in Vitro Frog Gastric Mucosa: A Functional and Morphological Study

Functional and morphological properties of the in vitro frog gastric mucosa were studied during and after exposure to very hypotonic (? 25 mOsM) solutions. Within 20 min the acid secretory rate decreased to zero, but it returned to normal levels after isotonic fluids had been restored. The potential difference (PD) dropped within the first minutes after the exposure to hypotonic solutions, and became inverted. Following the return of isotonic conditions the PD increased to levels higher than in the controls. The electrical resistance increased about 10–fold during the hypotonic period, but decreased to near normal values when isotonic conditions were restored. By light and electron microscopy the cells of the hypotonic mucosae appeared greatly swollen, and the alterations were assessed by morphometric methods. The gland lumina were almost obliterated, and the lamina propria was reduced to about 60% of its former volume. After the return to isotonic conditions normal morphology was restored. It is conceivable that the great increase in resistance during the hypotonic period was caused by the occlusion of the gland lumina. Quantitative analyses of the Na, K, and C1 tissue concentrations indicated a large loss of these ions during the hypotonic state. Presumably the epithelial cells in the hypotonic mucosae avoid bursting by rapidly letting large numbers of ions exit, which results in a cellular osmolarity close to that of the bathing fluids.     

Comparison of rapid identification assays for Staphylococcus aureus.

A total of 137 strains of Staphylococcus species were blindly tested by four rapid serological assays, and the results were compared with those of the tube coagulase assay. For the S. aureus isolates, the Sero-STAT Staph assay gave six false-negative results, four of which were for methicillin-resistant strains. The Accu -Staph, Staphylatex , and Staphyloslide assays identified all the coagulase-positive strains as Staphylococcus aureus. Among the coagulase-negative staphylococci, false-positive results were seen with strains of S. capitis. S. saprophyticus, and S. cohnii. The overall accuracy of the kits compared with the tube coagulase test ranged from 95.1 to 100%.     

Nutritionally variant Streptococcus pyogenes from a periorbital abscess.

A nutritionally variant Streptococcus pyogenes strain was isolated from a periorbital abscess. The organism was identified with the use of three rapid biochemical test kits, and the group A antigen was detected by conventional serology as well as direct antigen detection tests.     

The involvement of TGFβ1 in early avian development: gastrulation and chondrogenesis

We examined the effects of transforming growth factor-β1 (TGFβ1) and a neutralizing monoclonal antibody on two phases of early chick embryo development: gastrulation and chondrogenesis. We carried out experiments in vivo and in vitro on mesoderm cells from the gastrulating embryo at day 1, and on sclerotome cells from day 3 embryos, having previously shown that this factor is present among these cells at these stages of development. Addition of the antibody to cultures of these cells produced a dose-dependent decrease in cell outgrowth and spreading and concomitantly reduced fibronectin deposition. In vivo studies of the effects of TGFβ1 on mesoderm during gastrulation were carried out by grafting beads carrying this agent into gastrulating embryos. We used beads of ion-exchange resin as well as hydrolysed polyacrylamide, and found that the grafts produced an accumulation of mesoderm cells around the implant and, at later stages, the formation of enlarged somites. There was no effect on embryonic axis formation. Studies of bromodeoxyuridine (BrdU) incorporation indicated that the mesoderm accumulation was due, at least in part, to an increase in cell proliferation. However, examination of the effect of TGFβ1 on BrdU incorporation by mesoderm during gastrulation and sclerotome cells in vitro indicated in inhibition of cell proliferation, an inconsistency explained in terms of the variation between the in vivo and in vitro conditions. We conclude that TGFβ1 is both appropriately located, and is able, to influence cell proliferation among the mesodermal cell populations during early development, and that this effect contributes to the overall control of mesodermal morphogenesis. Chondrogenesis was studied in vitro using micromass cocultures of sclerotome cells with notochordon a permeable substratum. Under these conditions, the addition of TGFβ1 caused an increase in the deposition of Alcian blue-stainable material, indicating a stimulation of chondrogenesis. We suggest that this result, coupled with the previous demonstration that TGFβ1 is present among the sclerotome cells in the embryo at this time, supports the contention that this factor exerts a regulatory effect on sclerotome cell differentiation.     

Methods for obtaining and analyzing unattended polysomnography data for a multicenter study. Sleep Heart Health Research Group

This paper reviews the data collection, processing, and analysis approaches developed to obtain comprehensive unattended polysomnographic data for the Sleep Heart Health Study, a multicenter study of the cardiovascular consequences of sleep-disordered breathing. Protocols were developed and implemented to standardize in-home data collection procedures and to perform centralized sleep scoring. Of 7027 studies performed on 6697 participants, 5534 studies were determined to be technically acceptable (failure rate 5.3%). Quality grades varied over time, reflecting the influences of variable technician experience, and equipment aging and modifications. Eighty-seven percent of studies were judged to be of "good" quality or better, and 75% were judged to be of sufficient quality to provide reliable sleep staging and arousal data. Poor submental EMG (electromyogram) accounted for the largest proportion of poor signal grades (9% of studies had <2 hours artifact free EMG signal). These data suggest that with rigorous training and clear protocols for data collection and processing, good-quality multichannel polysomnography data can be obtained for a majority of unattended studies performed in a research setting. Data most susceptible to poor signal quality are sleep staging and arousal data that require clear EEG (electroencephalograph) and EMG signals.     

Immunological parameters in girls with Turner syndrome

Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X), thyroiditis being the most common.     

Growth hormone as an early embryonic growth and differentiation factor

In this review we consider the evidence that growth hormone (GH) acts in the embryo as a local growth, differentiation, and cell survival factor. Because both GH and its receptors are present in the early embryo before the functional differentiation of pituitary somatotrophs and before the establishment of a functioning circulatory system, the conditions are such that GH may be a member of the large battery of autocrine/paracrine growth factors that control embryonic development. It has been clearly established that GH is able to exert direct effects, independent of insulin-like growth factor-I (IGF-I), on the differentiation, proliferation, and survival of cells in a wide variety of tissues in the embryo, fetus, and adult. The signaling pathways behind these effects of GH are now beginning to be determined, establishing early extrapituitary GH as a bona fide developmental growth factor.