Genetic analyses of DSM-IV nicotine withdrawal in adult twins

Background. We examined whether there are genetic influences on nicotine withdrawal. and whether there are genetic factors specific to nicotine withdrawal, after controlling for factors responsible for risk of progression beyond experimentation with cigarettes and for quantity smoked (average number of cigarettes per day at peak lifetime use). Method. Epidemiologic and genetic analyses were conducted using telephone diagnostic interview data from Young adult Australian twins reporting any cigarette use (3026 women. 2553 men: mean age 30 years). Results. Genetic analysis of the eight symptoms of DSM-IV nicotine withdrawal suggests heritability is intermediate for most symptoms (26-43%). and Similar in men and women. The exceptions were depressed mood upon withdrawal. which had stronger additive genetic influences in men (53%) compared to worrien (29%). and decreased heart rate. which had low heritability (9%). Although prevalence rates were substantlally lower for DSM-IV nicotine withdrawal syndrome (15-9%), which requires impairment. than for the DSM-IV nicotine dependence withdrawal criterion (43.6%), heritability was similar for both measures: as high as 47%. Genetic modeling of smoking more than 1 or 2 cigarettes lifetime ('progression'). qualtity smoked and nicotine withdrawal found significant genetic overlap across all three components of nicotine use/dependence (genetic correlations = 0.53-0.76). Controlling for factors associated with risk of cigarette smoking beyond experimentation and quantity smoked, evidence for genetic influences specific to nicotine withdrawal (up to 23% of total variance) remained. Conclusions. Our results suggest that at least some individuals become 'hooked' or progress in the smoking habit, in part, because of it vulnerability to nicotine withdrawal.

Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity

Background: Plasma cholinesterase activity is known to be correlated with plasma triglycerides, HDL- and LDL-cholesterol, and other features of the metabolic syndrome. A role in triglyceride metabolism has been proposed. Genetic variants that decrease activity have been studied extensively, but the factors contributing to overall variation in the population are poorly understood. We studied plasma cholinesterase activity in a sample of 2200 adult twins to assess covariation with cardiovascular risk factors and components of the metabolic syndrome, to determine the degree of genetic effects on enzyme activity, and to search for quantitative trait loci affecting activity. Methods and Results: Cholinesterase activity was lower in women than in men before the age of 50, but increased to activity values similar to those in males after that age. There were highly significant correlations with variables associated with the metabolic syndrome: plasma triglyceride, HDL- and LDL-cholesterol, apolipoprotein B and E, urate, and insulin concentrations; gamma-glutamyltransferase and aspartate and alanine aminotransferase activities; body mass index; and blood pressure. The heritability of plasma cholinesterase activity was 65%. Linkage analysis with data from the dizygotic twin pairs showed suggestive linkage on chromosome 3 at the location of the cholinesterase WHO gene and also on chromosome 5. Conclusions: Our results confirm and extend the connection between cholinesterase, cardiovascular risk factors, and metabolic syndrome. They establish a substantial heritability for plasma cholinesterase activity that might be attributable to variation near the structural gene and at an independent locus. (c) 2006 American Association for Clinical Chemistry.

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult

Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available. © 2006 Movement Disorder Society

Intracardiac echo guided valvuloplasty of a stenotic tricuspid prosthetic valve in a patient with idiopathic hypereosinophilic syndrome

A 52-year-old male with idiopathic hypereosinophilic syndrome (HES) was transferred to our institution following the development of acute respiratory failure and shock. He had previously undergone tricuspid valve replacement with bioprosthetic valves on two occasions: the initial surgery for severe native tricuspid valve stenosis and the redo surgery for severe prosthetic valve stenosis and regurgitation. Conventional imaging assessment using transoesophageal echocardiography was suboptimal and comprehensive assessment of prosthetic valve function was aided by the use of intracardiac echocardiography (ICE). ICE provided high quality 2D imaging of the prosthesis demonstrating thrombus-like material coating the inner surfaces of the prosthetic valve stents effectively forming a tunnel-like obstruction. Unusual hemodynamics secondary to severe tricuspid stenosis were demonstrated by CW Doppler with intermittent signal fusion resulting from blunted respiratory variation in the markedly elevated right atrial pressure relative to right ventricular pressure. Successful balloon valvuloplasty was performed with ICE proving highly valuable in guiding balloon position as well as monitoring the efficacy of the subsequent inflations.

Tourette's syndrome

Tourette’s syndrome is a tic disorder that is often associated with behavioural symptoms. Diagnostic criteria are based on the presence of both motor and vocal tics; because of its varied presentations, the syndrome has the potential to be misdiagnosed. Prevalence is higher than commonly assumed; coprolalia is relatively rare (10-30%) and not required for diagnosis. The syndrome can cause serious distress and compromise health related quality of life. The main management strategies include psychoeducation, behavioural techniques, and drugs. Service provision is patchy even in developed countries and patients of all ages often “fall through the net” between neurology and psychiatry.

Emotional responses to King-Kopetzky syndrome:a qualitative study

The objective of the study was to identify the effects of King-Kopetzky syndrome on emotional well-being and the effects of emotional well-being on the condition itself. The study was designed as a qualitative study using semi-structured interviews, using six patients with long-standing hearing problems and exposure to a range of interventions. Participants were recruited from Audiology and Hearing Therapy Services, Bath and the Welsh Hearing Institute, Cardiff. Interviews were conducted in participants' homes and work places. King-Kopetzky syndrome was perceived to result in a change in level of anxiety, distress and depression. The determining factor in whether the change was positive (e.g. reduction in anxiety, distress or depression) or negative (e.g. increase in anxiety, distress or depression) was the person's interpretation of the experience of not hearing. This process of interpretation was based on feeling different towards other people, the relationship with the communicant person, and the confidence to employ strategies and the types of strategies chosen. Participants associated an increase in distress, anxiety or depression with an increase in mishearing or not hearing, and a reduction in hearing difficulties with a reduction in anxiety, distress and depression. It is hypothesised that emotional response to King-Kopetzky syndrome affects the degree of hearing difficulty experienced. Interventions aimed at the process of interpretation may be a means of empowering individuals in managing their own hearing difficulties.