A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

Cerebral palsy has an incidence of approximately 1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for approximately 1%-2% of cases in most countries but contribute a larger proportion in populations with extensive inbreeding. We have clinically characterized consanguineous families with multiple children affected by symmetrical spastic cerebral palsy, to locate recessive genes responsible for this condition. The eight families studied were identified from databases of patients in different regions of the United Kingdom. After ascertainment and clinical assessment, we performed a genomewide search for linkage, using 290 polymorphic DNA markers. In three families, a region of homozygosity at chromosome 2q24-q25 was identified between the markers D2S124 and D2S148. The largest family gave a maximum LOD score of 3.0, by multipoint analysis (HOMOZ). The maximum combined multipoint LOD score for the three families was 5.75. The minimum region of homozygosity is approximately 5 cM between the markers D2S124 and D2S2284. We have shown that a proportion of autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. The identification of genes involved in the etiology of cerebral palsy may lead to improved management of this clinically intractable condition.     

The development, validation, and application of a video-based technique for measuring an everyday risk-taking behavior: Drivers' speed choice.

Drivers' choice of speed is an important aspect of everyday risk-taking behavior because it has been shown to be one of the most important predictors of road accident involvement. This research developed, validated, and applied a measure of drivers' speed choice that combined a high degree of experimental control with external and ecological validity. In Study 1, a video-simulation measure of drivers' speed choice was developed and found to relate specifically to speed-related accident involvement among, implying a degree of external validity. In Study 2, the measure was used to investigate the effect of auditory feedback on drivers' speed choice. It was found that increasing the level of internal car noise decreased drivers' preferred speeds. Further analyses indicated that this was likely due to perceptual effects on speed estimation. Results are discussed in terms of road safety and the ability of video-based measures to facilitate experimental control over tasks involving complex ecological stimuli. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The imprinted domain in mouse distal Chromosome 7: reagents for mutagenesis and sequencing

BACKGROUND: Right lower quadrant abdominal pain may pose a diagnostic problem in patients with cystic fibrosis. Abdominal ultrasound examination, used commonly in the diagnostic work-up, may reveal abnormalities of the appendix. However, interpretation of such findings is problematic, because the appearance of the gastrointestinal system during routine examination has not been documented in patients with cystic fibrosis. The purpose of this study was to investigate the findings during routine abdominal ultrasound scans in our cohort of patients with cystic fibrosis and in control subjects. METHODS: Abdominal ultrasound scans were performed prospectively during routine clinic visits in a cohort of patients with cystic fibrosis. RESULTS: Fifty patients aged 10+/-6 years, (range, 0.5-28 years) were examined; 45 had pancreatic insufficiency. Four patients (3 with pancreatic insufficiency) reported right lower quadrant pain at the time of the scan. According to standard ultrasound criteria, the appearance of the appendix was abnormal in 8 patients (16%), 6 had a mucoid appendix, and 2 had a pathologically thickened appendiceal wall. Only 1 of these 8 patients mentioned abdominal pain at the time of the study. Other incidental findings included gallstones (3 patients), intussusception (2 patients), and pancreatic cyst (1 patient). CONCLUSIONS: Abnormalities can be observed during routine abdominal ultrasonographic studies in cystic fibrosis. These findings may not be associated with abdominal pain; their clinical relevance needs further investigation.     

Enamel hypoplasia in ancestral Puebloan populations from southwestern Colorado: I. Permanent Dentition

Predictions of P. R. Killeen's (1994) mathematical principles of reinforcement were tested for responding on ratio reinforcement schedules. The type of response key, the number of sessions per condition, and first vs. second half of a session had negligible effects on responding. Longer reinforcer durations and larger grain types engendered more responding, affecting primarily the parameter alpha (specific activation). Key pecking was faster than treadle pressing, affecting primarily the parameter delta (response time). Longer intertrial intervals led to higher overall response rates and shorter postreinforcement pauses and higher running rates, and ruled out some competing explanations. The treadle data required a distinction between the energetic requirements and rate-limiting properties of extended responses. The theory was extended to predict pause durations and run rates on ratio schedules.