Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p

Larsen syndrome is a congenital condition consisting of multiple large joint dislocations associated with a distinctive facial appearance and frequently other abnormalities. The syndrome is probably genetically heterogeneous, with both dominant and recessive inheritance reported. Previously two cases have been reported where a Larsen-like syndrome was associated with unbalanced chromosomal translocations resulting in partial trisomy 1q and monosomy distal 6p. We now report a child with an unbalanced translocation resulting in a distal 6p deletion and partial trisomy 10q, who has Larsen-like features and has also severe developmental delay. A G-banded preparation revealed a karyotype 46,XX,der(6),t(6:10)(p25;q25.2) and the breakpoint at 6p25 was confirmed by FISH using YAC probes (between 6p25 at D6s477/F13A1 and 6p24 at 6WI13606). Our case provides further evidence for a Larsen-like locus at distal 6p and reduces the potential critical region.     

Double-blind comparison of loratadine (SCH 29851), astemizole, and placebo in hay fever with special regard to onset of action

In this double-blind study, 65 patients with hay fever were treated for 14 days with either loratadine 10 mg once daily, astemizole 10 mg once daily, or placebo. On the third day of treatment loratadine was statistically superior to placebo, but astemizole and placebo showed no significant differences according to the ratings for symptomatology, efficacy, and individual symptoms. Adverse effects were minimal and did not differ between the three groups. Loratadine had a significantly earlier onset of action than astemizole with comparable efficacy and safety.     

The current status and future direction of self-help treatments for problem gamblers

The self-help treatment (SHT) studies for other psychological problems significantly outweigh those for problem gambling. Currently, very little is published about the application and efficacy of various forms of SHTs for problem gambling. Thus, this paper reviews the self-help literature (using the PsycINFO database--all years up to April 2008) to stimulate further research in this area for problem gambling. The findings show that SHTs in problem gambling are still in their infancy. Although the problem gambling literature has mainly reported on two forms of SHTs with problem gamblers (i.e. use of self-help manuals and audiotapes), the review discuss utilizing a wide range of SHTs with problem gamblers. These include written materials (e.g. self-help books and treatment manuals), audiotapes, videotapes, computer-based SHTs implemented on palmtop computers, desktop computers, via telephone (Interactive Voice Response systems--IVR) or via the Internet and virtual reality applications. These SHTs would suit those problem gamblers who are not accessing professional treatment due to shame, guilt, fear of stigma, privacy concerns or financial difficulties, as well as those living in rural areas or with less severe gambling problems. The review also suggest future protocols for conducting further research in this area with problem gamblers, highlighting a need for a cohesive theory to guide research.     

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)

This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HG-PRT). Few of the neurological abnormalities generally associated with severe HG-PRT deficiency were exhibited by this patient. Psychological studies, however, disclosed that some characteristics of the behaviour anomaly in the Lesch-Nyhan syndrome are present, but only in a concealed form.     

Failure to demonstrate schedule-induced hyperphagia with a fixed time 1-minute water delivery schedule

The reduction of an animal's body weight to 80% of its Free Feeding Weight (FFW) is purported to be an important factor in the generation of schedule-induced behaviour. However, the importance of this factor in schedule-induced hyperphagia is unclear. Experimental studies in schedule-induced hyperphagia reported conflicting results. The aim of the present series of five experiments was to clarify the several conflicting factors in the generation of schedule-induced hyperphagia. Rats reduced to 80% FFW by water restriction and on a Fixed Time (FT) 1-min water delivery schedule showed that body weight reduction, water delivery schedule, size and distance of pellets, and order of schedule presentation were not important factors in the generation of schedule-induced hyperphagia. The failure of the present series of experiments to demonstrate schedule-induced hyperphagia suggests that this behaviour may be a specific class of schedule-induced behaviour that can only be demonstrated under the Bellingham, Wayner and Barone experimental paradigm.     

The influence of gestation and mechanical ventilation on serum clara cell secretory protein (CC10) concentrations in ventilated and nonventilated newborn infants

Clara cell secretory protein (CC10) is an important anti-inflammatory mediator in the adult lung, but its role in newborn pulmonary protection is uncertain. We examined the early postnatal behavior of CC10 in newborn serum and tracheal fluid and hypothesized that CC10 production is positively influenced by gestation. Blood from 165 infants from the first, third/fourth, and seventh days of life (gestational ages: 23-29 wk, 30-36 wk, >36 wk) and tracheal fluid (TF) from the first day of life from 32 ventilated infants were analyzed for CC10. Surfactant proteins A (SPA) and B (SPB) were also analyzed from the blood of a subgroup of infants. Serum CC10 on day 1 was highest in term infants (69.4 ng/mL), followed by moderately preterm (55.8 ng/mL), and then extremely preterm infants (median 42.1 ng/mL). Term infants also had higher tracheal fluid CC10 than preterm infants. (20.152 ng/mL versus 882 ng/mL). Mechanical ventilation increased serum CC10 only in moderately preterm infants, and only on d 1 [68.4 ng/mL versus 42.1 ng/mL (nonventilated moderately preterm infants)]. Serum CC10 decreased progressively by the end of the first week in all infants, in contrast to SPA and SPB, which increased. Our results show that CC10 is detectable in the blood of newborn infants and that a production surge occurs at birth. This surge is more pronounced in term infants and may confer them with superior extrauterine pulmonary protection compared with preterm infants.     

A cognitive model of binge drinking: the influence of alcohol expectancies and drinking refusal self-efficacy

While binge drinking-episodic or irregular consumption of excessive amounts of alcohol-is recognised as a serious problem affecting our youth, to date there has been a lack of psychological theory and thus theoretically driven research into this problem. The current paper develops a cognitive model using the key constructs of alcohol expectancies (AEs) and drinking refusal self-efficacy (DRSE) to explain the acquisition and maintenance of binge drinking. It is suggested that the four combinations of the AE and DRSE can explain the four drinking styles. These are normal/social drinkers, binge drinkers, regular heavy drinkers, and problem drinkers or alcoholics. Since AE and DRSE are cognitive constructs and therefore modifiable, the cognitive model can thus facilitate the design of intervention and prevention strategies for binge drinking.     

Comparison of the use of L-tyrosine apodecarboxylase and D-serine apodehydratase for plasma pyridoxal phosphate assay

The enzymatic methods for plasma pyridoxal 5'-phosphate (PLP) assay using L-tyrosine apodecarboxylase (apo-LTD) and D-serine apodehydratase (apo-DSD) were compared with respect to their operating characteristics, accuracy and precision. With the apo-LTD assay, the recovery of authentic PLP added to irradiated plasma was 96-100% and the precision for within-run and run-to-run replicates was 4-5% (coefficient of variation). The recovery of authentic PLP with the apo-DSD assay tended to be lower (viz., 95%) and the within-run and run-to-run coefficients of variation tended to be higher (viz., 5-6%), but these differences were not statistically significant. When these two assay methods were directly compared in determining the plasma PLP levels of 67 hospitalized patients, the regression lines exhibited correlation coefficients of 0.89 and 0.92 and slopes of 0.77 and 0.78, respectively. When the plasma PLP values were less than 7.5 ng/ml, the values determined by the apo-DSD assay tended to be higher than those measured by the apo-LTD method and vice versa. The lack of better agreement between the two assay methods may be explained by the fact that an inhibitor exists in plasma extracts that impairs the binding of PLP to apo-DSD and that the correction for this interference may not be uniform from one plasma sample to another. However, if one is willing to tolerate the small discrepancies between the values obtained by the apo-DSD and apo-LTD assays, these assay methods can be used interchangeably. The apo-DSD assay has the advantage of being easily adapted to a modern automated spectrophotometric centrifugal analyzer.