Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.

The prognostic role of cytogenetic analysis is well-established in B-cell chronic lymphocytic leukemia (CLL). Approximately 80% of patients have a cytogenetic aberration. Interphase FISH panels have been the gold standard for cytogenetic evaluation, but conventional cytogenetics allows detection of additional abnormalities, including translocations, complex karyotypes and multiple clones.

Association of 24-Hour Blood Pressure With Urinary Sodium Excretion in Healthy Adults.

Background: While the positive relationship between urinary sodium excretion and blood pressure (BP) is well established for middle-aged to elderly individuals using office BP, data are limited for younger individuals and ambulatory BP measurements.

Methods: Our analysis included 2,899 individuals aged 18 to 90 years from 2 population-based studies (GAPP, Swiss Kidney Project on Genes in Hypertension [SKIPOGH]). Participants with prevalent cardiovascular disease, diabetes, or on BP-lowering treatment were excluded.

Impulsivity and motor activity in aged, male Ts65Dn mice.

Attention deficit/hyperactivity disorder (ADHD) is more prevalent in children with Down syndrome than in typically developing children. The defining characteristics of ADHD include inattention, impulsivity, and hyperactivity. The main purpose of this study was to determine whether a mouse model of Down syndrome exhibited higher levels of impulsivity than controls.

Low bone turnover and low BMD in Down syndrome: effect of intermittent PTH treatment.

Trisomy 21 affects virtually every organ system and results in the complex clinical presentation of Down syndrome (DS). Patterns of differences are now being recognized as patients' age and these patterns bring about new opportunities for disease prevention and treatment. Low bone mineral density (BMD) has been reported in many studies of males and females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined.

Low bone turnover and low bone density in a cohort of adults with Down syndrome.

Unlabelled: Increased incidence of osteoporosis in Down syndrome has been reported, but etiology is not established. We report low bone turnover markers and bone mineral density (BMD) in a cohort of people with Down syndrome without consistent clinical risk factors. Our results should guide future studies and treatments for this common problem.

Working memory in the aged Ts65Dn mouse, a model for Down syndrome.

The Ts65Dn mouse displays several phenotypic abnormalities that parallel characteristics found in Down syndrome. One important characteristic associated with Down syndrome is an increased incidence of early-onset Alzheimer's disease. Since Alzheimer's disease is characterized largely by progressive memory loss, it is of interest to study working memory in the Ts65Dn mouse.

Human behavioral pharmacology, past, present, and future: symposium presented at the 50th annual meeting of the Behavioral Pharmacology Society.

A symposium held at the 50th annual meeting of the Behavioral Pharmacology Society in May 2007 reviewed progress in the human behavioral pharmacology of drug abuse. Studies on drug self-administration in humans are reviewed that assessed reinforcing and subjective effects of drugs of abuse. The close parallels observed between studies in humans and laboratory animals using similar behavioral techniques have broadened our understanding of the complex nature of the pharmacological and behavioral factors controlling drug self-administration.

Rats selectively bred for ethanol preference or nonpreference have altered working memory.

To examine whether the cognitive deficit observed in chronic alcoholics is because of the chronic exposure to alcohol or to a factor that contributes to the chronic alcohol use, working memory was evaluated under a delayed matching-to-position task in rats selectively bred for ethanol preference or nonpreference (iP/iNP, iHAD1/iLAD1, and iHAD2/iLAD2). Before the study on working memory, rats were studied under a progressive ratio schedule of food presentation to determine whether differences in motivation to respond for food existed between the alcohol-preferring and -nonpreferring strains. No such differences were observed.

Does the learning deficit observed under an incremental repeated acquisition schedule of reinforcement in Ts65Dn mice, a model for Down syndrome, change as they age?

The Ts65Dn mouse is partly trisomic at chromosome 16 and is considered to be a valid mouse model of human Down syndrome. Prior research using an incremental repeated acquisition (IRA) schedule of reinforcement has revealed that there is a significant learning deficit in young, adult Ts65Dn mice compared to littermate controls. The purpose of this study was to examine whether this deficit changes during the life-span of these mice.

Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.

X-chromosome inactivation (XCI) is an epigenetic process used to regulate gene dosage in mammalian females by silencing genes on one X-chromosome. While the pattern of XCI is typically random in normal females, abnormalities of the X-chromosome may result in skewing due to disadvantaged cell growth. We describe a female patient with an X;1 translocation [46,X,t(X;1)(q28;q21)] and unusual pattern of XCI who demonstrates functional disomy of the Xq28 region distal to the translocation breakpoint.

5-HT(1A) Receptor Null Mutant Mice Responding Under a Differential-Reinforcement-of-Low-Rate 72-Second Schedule of Reinforcement.

Over the last two decades, our ever-increasing ability to manipulate the mouse genome has resulted in a variety of genetically defined mouse models of depression and other psychiatric and neurological disorders. However, it is still the case that some relevant rodent models for depression and antidepressant action have been validated experimentally in rats only and not in mice. An important example of such models is the operant model of antidepressant action known as differential-reinforcement-of-low-rates 72-second (DRL 72-s).

Reliability and validity of the Older Americans Resources and Services (OARS) social resources scale in six European countries.

Objectives: The purpose of this article is to examine data quality, reliability, and construct validity of the Older Americans Resources and Services social resources scale in six European countries (The Netherlands, Luxembourg, Italy, Austria, the United Kingdom, and Sweden).

Methods: A questionnaire was administered through face-to-face interviews in five countries, and postal interview in the sixth, to representative populations of adults aged 50 to 90 living independently (N = 12,478). This article examines missing values and distribution of items in the social resources scale, and consistency of skew and kurtosis across countries.

Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.

Background: Array-based comparative genomic hybridization (aCGH) is a high-throughput method for measuring genome-wide DNA copy number changes. Current aCGH methods have limited resolution, sensitivity and reproducibility. Microarrays for aCGH are available only for a few organisms and combination of aCGH data with expression data is cumbersome.

Desmoplastic small round cell tumor of the kidney in childhood.

Background: Desmoplastic small round cell tumor (DSRCT) is a rare malignant tumor that generally manifests as abdominal paraserosal masses and affects mainly male adolescents and young adults. When presenting within visceral organs, the diagnosis of DSRCT poses significant difficulties.

Methodology: Four primary renal DSRCT in children diagnosed during a 3-year period are the basis of this report.

Working memory in the Ts65Dn mouse, a model for Down syndrome.

This study used a matching-to-position schedule of reinforcement to examine working memory in Ts65Dn and littermate control mice. Initially there appeared to be a memory deficit in the Ts65Dn mice, which disappeared with extended practice. Thus, what appeared as a memory deficit may actually be the result of a delay in learning the concept of matching.

Trisomy 16p: a longitudinal profile and photo essay.

As more cases of complete or partial trisomy 16p are described, a clinical picture of these patients is emerging. A specific phenotype appears to be most consistent if the band 16p13.1-16p13.

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5.

Changes in levels of social isolation and loneliness among older people in a rural area: a twenty-year longitudinal study.

The Bangor Longitudinal Study of Ageing (BLSA), conducted in rural Wales from 1979 to 1999, followed a cohort of survivors from more than 500 people over 20 years. Using both quantitative and qualitative data from the study, the factors associated with increases and decreases in loneliness and social isolation were identified. The study was based on a population sample and survivors were followed up every 4 years.

Operant conditioning in the Ts65Dn mouse: learning.

Ts65Dn and littermate controls were trained to respond (nose-poke) under operant schedules of reinforcement. A small difference was observed in the initial operant training of the Ts65Dn mouse that disappeared with training under a fixed-ratio 15 schedule of milk presentation. No difference was observed in a position reversal task in which mice initially trained to respond upon one photocell had to learn to respond on a previously inactive photocell.

Ageing without children: rural Wales.

This paper aims to identify the pathways and adaptations to childlessness. It is based on data for 65 childless men and women who took part in the Bangor Longitudinal Study of Ageing (1979-1999) and survived to at least 1987. Interviews were conducted mainly in the homes of the respondents at 4 yearly intervals and both qualitative and quantitative data were recorded.

Effects of drugs of abuse and signal predictability in two models of sustained attention in pigeons.

The acute effects of ethanol, pentobarbital, D-amphetamine and nicotine were determined in two animal models of attention. This study examined if changing the predictability of the stimulus presentation modifies drug effects under two attention tasks, in male White Carneau pigeons. The first task was a continuous-trial sustained attention task.

Behavioral training increases local astrocytic metabolic activity but does not alter outcome of mild transient ischemia.

Functional neurological outcome after transient ischemia might be improved by timely therapeutic intervention. To determine if restorative behavioral therapy influences damage, improves task learning, or alters astrocyte metabolic activity after ischemia, rats (food-restricted to 85% of free-feeding weight) were (a) first trained to respond on one of two levers under a fixed-ratio 20 schedule of food presentation (FR20), then (b) subjected to sham manipulation of carotid arteries or 10 min ischemia by four-vessel occlusion, followed by (c) 4 days of operant testing or inactivity, (d) then all rats were tested under a FR20 lever reversal task for 4 weeks, and (e) 3 days after the last behavioral session astrocyte metabolism was assayed by local uptake of [2-14C]acetate. Mild loss of hippocampal neurons occurred in ischemic rats with or without training after ischemia.

The limited utility of the Mini-Mental State Examination in screening people over the age of 75 years for dementia in primary care.

The Mini-Mental State Examination (MMSE) is used worldwide to assess cognitive status and it has been recommended for use in primary care to detect dementia. In this study, the MMSE was administered during annual health checks for patients over 75 years of age in nine practices by a member of the primary care team. The mean age was 80 years.

Effect of pentobarbital, d-amphetamine, and nicotine on two models of sustained attention in pigeons.

Rationale: The animal literature examining the effects of drugs of abuse on sustained attention has provided conflicting results. One reason for these inconsistencies could be the different type of tasks used to measure sustained attention.

Objective: Acute effects of pentobarbital (0.

A single dose of monoclonal anti-phencyclidine IgG offers long-term reductions in phencyclidine behavioral effects in rats.

These studies tested the hypothesis that a single dose of high-affinity anti-phencyclidine monoclonal antibody (anti-PCP mAb) provides long-term protection against behavioral effects of repeated PCP administration in rats. Rats were treated with saline, nonspecific bovine IgG (NS-IgG), or anti-PCP mAb (1.0 g/kg).