Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.     

Effects of sensory and motor functioning on adult intellectual performance

This study examined longitudinal health and intelligence data to determine whether sensory or motor deficits account for some of the age-related intellectual changes that are commonly seen from midlife onward. Although sensory and motor functioning did not account for the age-related decrements in performance on speeded, visual perceptual tasks found for this sample in previous work, we did find that hearing deficits added error variance to performance estimates on two verbal subtests of the Wechsler scales.     

A novel access method for endovascular procedures in the porcine model

Objective To evaluate the use of the saphenous artery as an alternative access for endovascular procedures in the porcine model. Methods Fourteen adult pigs (25-35kg) were used in this study, 3 pigs from an acute study and 11 from chronic studies. A 2-3 cm incision was made and a saphenous artery cutdown was performed in 24 sides. Micropunc ture sets (Boston Scientific) or 18 G puncture needles were used to access the artery. Different sizes of introducers (4-7F) were used to establish endovascular access. Angiographic catheters were then used to confirm if the access was usable. Four saphenous arteries were explanted in the pigs from a chronic study 4 to 28 days after surgical procedure. Results The saphenous artery was very easy to expose and 4-5 F introducer sheaths were able to be inserted to establish access for endovascular procedures in the pigs. The saphenous artery was unable to accomodate an introducer with a size larger than 6 F. Four saphenous arteries were injured when 5 and 6 F introducers were used, but angiographic procedures could still be performed. Morphologic evaluation of the explanted arteries demonstrated occlusion of the saphenous arteries without injury or disruption of the adjacent femoral arteries. Conclusion The saphenous artery can be used as an access site in pigs for angiographic and interventional procedures if the catheter size is less than 6 F. This vessel is easier to access and can preserve the femoral artery for repeat procedures in the future.     

Acute coronary syndromes

The first 150 words of the full text of this article appear below. Key points Coronary artery disease accounts for >30% ofdeaths in Western society. The diagnosis of myocardial infarctionshould be qualified by size, causation and time from occurrence. Mortalityis reduced by immediate or ‘primary’ percutaneouscoronary intervention or thrombolysis within the first 24 hof onset of ST-segment elevation myocardial infarction. Strategiesto reduce platelet activation (glycoprotein IIb/IIIa receptorantagonists, or clopidogrel) are now recommended in the treatmentof high-risk non-ST-segment myocardial infarction/unstable angina. Elevatedserum troponins may be the result of non-ischaemic myocardialdamage, especially in critical illness.