Cerebrocostomandibular syndrome in four sibs, two pairs of twins.

We report four sibs, two pairs of twins, with cerebrocostomandibular syndrome (CCMS). The family history was negative. All four babies had the characteristic features of CCMS, including Pierre-Robin anomalad and rib dysplasia. Cerebral involvement was evident in two of the patients who had suffered perinatal asphyxia. The presence of the syndrome in all four sibs together with the negative family history in previous generations is consistent with Mendelian autosomal recessive inheritance with high penetrance.     

Randomized placebo-controlled study of low-dose warfarin for the prevention of central venous catheter-associated thrombosis in patients with cancer.

PURPOSE: In this multicenter, randomized, placebo-controlled clinical trial, we studied whether warfarin 1 mg daily reduces the incidence of symptomatic central venous catheter (CVC) -associated thrombosis in patients with cancer. PATIENTS AND METHODS: Two hundred fifty-five patients with cancer who required a CVC for at least 7 days were randomly assigned to receive warfarin 1 mg or placebo. RESULTS: There were 11 (4.3%) symptomatic CVC-associated thromboses among 255 patients, with no difference in the incidence of symptomatic CVC-associated thrombosis between patients taking warfarin 1 mg daily (six of 130 patients; 4.6%) and patients taking placebo (five of 125 patients; 4.0%; hazard ratio, 1.20; 95% CI, 0.37 to 3.94). Warfarin had no effect on CVC life span (84 days v 63 days in control and warfarin groups, respectively; 95% confidence limit, -16 to 55 days; P = .09), and it did not affect the number of premature CVC removals (23.2% v 25.4% in control and warfarin groups, respectively; 95% confidence limit of difference -8.34 to 12.71; P = .68) or the frequency of major bleeding episodes (2% v 0% in control and warfarin groups, respectively; P = .5, Fisher's exact test). CONCLUSION: Symptomatic CVC-associated thrombosis in patients with cancer, although significant, is less common than previously reported. In this study, the administration of warfarin 1 mg daily did not reduce the incidence of symptomatic CVC-associated thrombosis in patients with cancer. However, the low rate of symptomatic CVC-associated thrombosis means that a much larger trial is required to address this issue definitively.     

Isolated right ventricular infarction during percutaneous coronary intervention

Isolated right ventricular infarction (RVI) is an increasingly recognized cause of precordial ST-segment elevation (STE). A patient is described who developed STE in leads V1?CV5 secondary to occlusion of the right ventricular branch during stent angioplasty to the right coronary artery. The pattern of precordial STE was thought to be suggestive of anteroseptal myocardial infarction because of progressive STE toward lead V3. Repeat angiography disclosed a patent left anterior descending artery. Subsequent scrutiny of the electrocardiogram (ECG) revealed that leads V2 and V3 were switched and ECG interpretation considering this technical error revealed STE in V2>V3, which favored RVI. Furthermore, the mean spatial ST vector was approximately +120° in the frontal plane producing ST-segment depression in lead?I which argued against anteroseptal myocardial infarction and indicated right ventricular epicardial injury. This report highlights that analysis of the ECG using vector concepts is a useful adjunct to pattern recognition for the diagnosis of RVI.     

Soft, fortified ice-cream for head and neck cancer patients: a useful first step in nutritional and swallowing difficulties associated with multi-modal management

Patients with head and neck cancer have complex swallowing and nutritional concerns. Most patients are malnourished, and treatment modalities within the aerodigestive tract have profound effects on future swallowing and nutrition. The objective of this study is to investigate whether the introduction of fortified soft ice-cream to post-operative head and neck cancer patients would increase compliance with oral-feeding regimes. Using a questionnaire study, an ice-cream machine that produces fortified soft ice-cream was introduced onto our ward, and 30 patients were asked to fill out questionnaires based on their experience in addition to their oral-feeding regime. Results indicate that overall patient satisfaction and compliance with oral-feeding regimes increased: 77% felt that the taste was excellent and also felt that it was easy to eat; 60% felt that it eased the symptoms associated with their symptoms, in particular its cold temperature. We conclude from the results that the inability of patients undergoing multi-modal treatment for upper aerodigestive tract cancer to enjoy normal foods and its effects on their quality of life is underestimated. Providing a food to that is palatable, familiar and acceptable as it is safe and nutritionally sound can increase compliance with oral-feeding regimes. The ice-cream was safe to use in the early post-operative period, especially soothing in patients undergoing upper aerodigestive radiotherapy and high in protein and calorific content. Our practice may have wider benefits, including patients with oral and oropharyngeal infections, the elderly and patients with neurological dysphagia resulting from stroke.     

Molecular characterization of G6PD deficiency in Cyprus

In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test on blood spotted on filter paper and a quantitative spectrophotometric test on liquid blood. The frequency of G6PD deficiency among healthy adult males was found to be 5.1% using the semiquantitative procedure and 6.4% using the quantitative procedure. Neither method was able to detect all the expected female heterozygotes (5.3% and 47.1% of the expected number, respectively). A total of 21 male hemizygotes, 1 female homozygote and 9 female heterozygotes that tested positive for G6PD deficiency were studied at the molecular level. All 32 chromosomes were genotyped and five different mutations were identified. The Mediterranean mutation in exon 6 (563C-->T) (Ser188Phe) was found to be the most common variant in the Cypriot population, accounting for 52.6% of the deficient alleles. In the remaining chromosomes, four different mutations were identified: three known mutations, Kaiping 1388G-->A (Arg463His), Chatham 1003G-->A (Ala335Thr) and Acrokorinthos 463C-->G (His155Asp), and one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), which we called G6PD Kambos. We conclude that the frequency of G6PD deficiency in Cypriot males is 6.4%, and that this deficiency is the result of several different mutations. Although all the individuals carrying the Mediterranean variant can be detected using a semiquantitative screening method, a quantitative enzyme measurement is required to detect the G6PD variants with less severe enzyme deficiencies, while the most appropriate method for heterozygote detection is DNA analysis.     

Attachment relationships of adolescents who spent their infancy in residential group care: The Greek Metera study

A prospective longitudinal study beginning whilst the infants were living in the Metera Babies Centre showed that the great majority showed a disorganized attachment during the period of residential care, even though neither abuse/neglect nor subnutrition were involved. There was an initial follow-up post-adoption age at four years. This paper concerns a further follow-up of the 52 adopted adolescents aged 13 years who had spent their first two years of life in Metera Babies Centre. They were compared to 36 adolescents reared in their biological families who, during their infancy, attended full-time public day care. The key aim was to examine continuities and discontinuities between early and contemporary relationships. The Child Attachment Interview was employed in adolescence. The main findings were a significant decrease in the rate of disorganization and a lack of a significant difference between the previously institutionalized group and the family care comparison group on attachment qualities in adolescence. There was not sufficient statistical power, however, to detect a small difference.     

Anandamide produced by Ca2+-insensitive enzymes induces excitation in primary sensory neurons

The endogenous lipid agent N-arachidonoylethanolamine (anandamide), among other effects, has been shown to be involved in nociceptive processing both in the central and peripheral nervous systems. Anandamide is thought to be synthesised by several enzymatic pathways both in a Ca²⁺-sensitive and Ca²⁺-insensitive manner, and rat primary sensory neurons produce anandamide. Here, we show for the first time, that cultured rat primary sensory neurons express at least four of the five known Ca²⁺-insensitive enzymes implicated in the synthesis of anandamide, and that application of 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine-N-arachidonoyl, the common substrate of the anandamide-synthesising pathways, results in anandamide production which is not changed by the removal of extracellular Ca²⁺. We also show that anandamide, which has been synthesised in primary sensory neurons following the application of 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine-N-arachidonoyl induces a transient receptor potential vanilloid type 1 ion channel-mediated excitatory effect that is not inhibited by concomitant activation of the cannabinoid type 1 receptor. Finally, we show that sub-populations of transient receptor potential vanilloid type 1 ion channel-expressing primary sensory neurons also express some of the putative Ca²⁺-insensitive anandamide-synthesising enzymes. Together, these findings indicate that anandamide synthesised by primary sensory neuron via a Ca²⁺-insensitive manner has an excitatory rather than an inhibitory role in primary sensory neurons and that excitation is mediated predominantly through autocrine signalling. Regulation of the activity of the Ca²⁺-insensitive anandamide-synthesising enzymes in these neurons may be capable of regulating the activity of these cells, with potential relevance to controlling nociceptive processing.