Anti-smoking programme for diabetic patients: the agony and the ecstasy

It is generally accepted that people with diabetes should be encouraged to abstain from smoking but there are few data on the best strategy to implement this. In a preliminary survey of our diabetic patients, knowledge of the general and specific health effects of smoking was poor. In a prospective study of 70 diabetic smokers, only 50% agreed to participate in an anti-smoking programme, and the drop-out rate was high irrespective of whether the content of the programme was general or specific for diabetes. The enrollment rate was best 2 months after the diagnosis of diabetes and the drop-out rate was highest in patients recruited immediately following diagnosis. According to self-reported data, cigarette consumption fell after the first session of the anti-smoking programme but this could not be verified by the measurement of plasma cotinine. It is concluded that an anti-smoking counselling programme based on provision of information, within the context of a specialized diabetes centre, is not cost-effective.     

Trends in the use of tracheotomy in the pediatric patient: The Iowa experience

Background. The role of tracheotomy in airway management in children has been widely discussed. Improved medical care and technology have resulted in improved survival rates, and increased survival rates have been associated with changes in the indications for and the use of tracheotomy. The purpose of this review was to evaluate trends in the use of tracheotomy over a 15-year period. Methods. We reviewed the medical charts of patients who underwent tracheotomy from 1975 to 1989 and analyzed them over three 5-year time intervals: Block 1, 1975–79; Block 2, 1980–84; and Block 3, 1985–89. Results. In the defined age group, 305 patients underwent tracheotomy during the study period. Records from 281 patients were analyzed; the remaining charts either were unavailable for review or did not contain adequate documentation of the tracheotomy. We observed an increase in the number of tracheotomies over time, especially in the younger population. Across blocks, median age decreased, duration of tracheotomy increased, and indications for tracheotomy changed. Conclusions. Mean age, duration of tracheotomy, and indications for tracheotomy changed over the 15-year period. Additionally, these parameters were strongly related. © 1995 Jons Wiley & Sons, Inc.     

Tuberous sclerosis: A case report with aortic aneurysm and unusual rib changes

An unusual case of tuberous sclerosis with thick sclerotic ribs, thoracic and abdominal aortic aneurysms and sacrococcygeal chordoma is described. The patient has been followed for 17 years and the radiographic features of the ribs and especially the aortic aneurysms are unusual features of this condition.     

Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion

This direct method for quantifying excessive urinary glycosaminoglycan excretion exploits the specific binding of 1,9-dimethylmethylene blue (DMB). The procedure obviates cumbersome and labor-intensive procedures for separating glycosaminoglycans from other constituents of urine. Pediatric pharmaceutical formulations (except heparin), in concentrations expected in urine, do not interfere with spectrophotometry, nor does protein. Results can be expressed in terms of urinary creatinine; thus the test is applicable to very small urine specimens (0.1 mL), such as those obtainable from neonates. In a pilot study, results of the direct DMB test for 48 urine specimens agreed with the clinical diagnosis, and quantitative measurements correlated moderately (r = 0.76) with results of a commonly used procedure (carbazole-borate reactivity after precipitation with cetylpyridinium chloride). The present method was also used to assess metabolic correction in a patient with Hurler's syndrome after treatment by bone-marrow transplantation. This quantitative method surmounts the major technical problems of developing mass screening programs for infants, thus offering the potential for earlier diagnosis and treatment of mucopolysaccharidosis diseases.     

Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity

We describe five families presenting with type II hereditary protein C deficiency characterized by normal antigen and amidolytic activity levels but low anticoagulant activity. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining amplification by the polymerase chain reaction (PCR), denaturing gradient gel electrophoresis of the amplified fragments, and direct sequencing of fragments displaying altered melting behavior. We detected five novel mutations. Three were located in the C-terminal part of the propeptide encoded by exon III: Arginine (Arg)-5 to tryptophan (Trp), Arg-1 to histidine (His), and Arg-1 to cysteine (Cys) mutations. The two others, located in exon IX, affected Arg 229 and serine (Ser) 252, which were respectively replaced by glutamine (Gln) and asparagine (Asn). DNA studies of the other exons from affected individuals showed no other abnormalities. These novel mutations provide further insight into the importance of the affected amino acids located close to the active site, near Asp 257, one of the three amino acids of the catalytic triad. The low anticoagulant activity of the abnormal protein C indicated that Arg 229 and Ser 252 play a key role during the interaction between protein C and its cofactor protein S, phospholipids, or factors Va and VIIIa. The Arg-1 to Cys mutation led to the dimerization of protein C with another plasmatic component, as evidenced by the presence in the plasma of a high molecular weight form of protein C that disappeared after reduction. No molecular mass abnormalities were observed in heavy and light chains of all other protein C mutants. In the five families explored, 9 (64%) of the 14 subjects bearing the mutations reported thrombotic events. This suggests that the protein C amino acids affected by the mutations are very important for the in vivo expression of the antithrombotic properties of protein C.