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Real-time control of many plasma parameters will be an essential aspect in the development of reliable high performance operation of next step tokamaks. The main prerequisites for any feedback scheme are the precise real-time determination of the quantities to be controlled, requiring top quality and highly reliable diagnostics, and the availability of robust control algorithms.

Psychometric performance has been reported to be related to brain atrophy in cirrhotics, but the relationship between brain atrophy and EEG findings is still unknown. The aim of this study was to ascertain the relationship among brain atrophy, EEG, and cognitive performance in cirrhotics. Sixty-eight cirrhotics (age = 55 ± 10 years; males-66%) underwent psychometric evaluation (Symbol Digit Test, Trail Making Test—Part A, Scan test), EEG recording and spectral analysis (S-EEG), and brain CT scan. Central brain atrophy was ascertained by the following indexes of brain atrophy: the Evans' index, the bicaudate index, the cella media index, the bifrontal index, and the ventricular index; cortical brain atrophy by the sulci index. The severity of liver failure was assessed by the Child–Pugh score: 18% of patients were Child–Pugh Class A, 50% Class B, and 32% Class C. Central and cortical atrophies were found to be correlated with age, but not with the Child–Pugh score. Psychometric performance and the EEG mean dominant frequency (MDF) were found to be correlated with brain atrophy. Multivariate analysis showed that a poor psychometric performance was independently predicted by EEG slowing (MDF: p< 0.01) and by central brain atrophy (cella media index: p< 0.01). In conclusion, brain atrophy was associated with a poor psychometric performance and EEG alterations in cirrhosis. Both brain atrophy and EEG alterations independently predicted cognitive dysfunction in cirrhotic patients.

Objective: Spectral EEG analysis has been claimed to reduce subjective variability in EEG assessment of hepatic encephalopathy and to allow the detection of mild encephalopathy.

Treatment of washed boar sperm with hypotonic phosphate buffer disrupted the cytoplasmic membrane and released the soluble contents and phosphofructokinase, but the other glycolytic enzymes and lactate dehydrogenase were retained. Addition of the appropriate substrates and co-factor(s) to preparations of treated cells in phosphate-buffered saline showed that enzyme activity could be re-instated. This simple preparation should be of assistance in the investigation of specific sections of the glycolytic pathway without the use of chemical inhibitors.

After studies which have mapped the γ-sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the γ-sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C. Copyright © 1998 John Wiley & Sons, Ltd.

After studies which have mapped the γ‐sarcoglycan deficient limb‐girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the γ‐sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C. Copyright © 1998 John Wiley & Sons, Ltd.

The accumulation of silicon in the nutlets of Schoenus nigricans, a sedge from wet dune slacks, was studied during nutlet development from ovule fertilization up to nutlet ripeness in plants from a submediterranean (Eastern Italy) and a temperate (North Holland) population at their natural sites. There was a rapid increase of the Si concentration between 4 and 10 weeks after fertilization of the ovules at the first position, but a delayed increase at higher spikelet position. Whereas the Si content of the surrounding tissues, i.e. shoot, bracts, and spikelet axis, remained below 3%, Si concentration in the pericarp of the nutlets at the first and second spikelet positions increased during nutlet development up to 34% Si. Nutlets at higher spikelet positions, having a shorter development time, contained significantly less silicon. Differences in the climate did not affect the Si concentration. Plants grown in desiccated dune slacks had a low silicification of the nutlets.

It is not yet clear if benzodiazepine receptor ligands, implicated in the pathophysiology of hepatic coma, also have a role in subclinical cognitive or neurophysiological alterations in cirrhotic patients. Therefore, we carried out a double-blind, placebo-controlled study to evaluate the effectiveness of flumazenil, a benzodiazepine antagonist, on brainstem auditory evoked responses and on the number connection test in cirrhotic patients with subclinical neurophysiological or cognitive alterations. Thirteen cirrhotic subjects with subclinical neurophysiological or cognitive alterations were studied. A total of 3 mg of flumazenil or saline was infused intravenously. Before and after the infusion, the number connection test was administered and brainstem auditory evoked responses recorded. After 72 h, patients were crossed over. Flumazenil did not influence brainstem auditory evoked responses or the number connection test. A screening test for benzodiazepines was negative in all subjects. We conclude that benzodiazepine receptor ligands have a negligible role, if any, in the pathophysiology of sub-clinical neurophysiological or cognitive alterations of cirrhotic patients.

Primary adhalin (or a-sarcoglycan) deficiency due to a defect of the adhalin gene 1ocaIized on chromosome 17q21 causes an autosomal recessive myopathy. We evaluated 20 patients from 15 families (12 from Europe and three from North Africa) with a primary adhalin deficiency with two objectives: characterization of the clinical phenotype and analysis of the correlation with the level of adhalin expression and the type of gene mutation. Age at onset and seventy of the myopathy were heterogeneous: six patients were wheel-chair bound before 15 years of age, whereas five other patients had mild disease with preserved ambulation in adulthood. The clinical pattern was similar in all the patients with symmetric characteristic involvement of trunk and limb muscles, calf hypertrophy, and absence of cardiac dysfunction. Immunofluorescence and immunoblot studies of muscle biopsy specimens showed a large variation in the expression of adhalin. The degree of adhalin deficiency was fairly correlated with the clinical severity. There were 15 different mutations (10 missense, five null). Double null mutations (three patients) were associated with severe myopathy, but in the other cases (null/missense and double missense) there was a large variation in the severity of the disease.

Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein1–3, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD)4. This is a Duchenne-like disease affecting both males and females first described in Tunisian families5,6. Adhalin deficiency has been found in SCARMD patients from North Africa4,7,8Europe9, Brazil10, Japan11,12and North America (SLR & KPC, unpublished data). The disease was initially linked to an unidentified gene on chromosome 13 in families from North Africa7,13, and to the adhalin gene itself on chromosome 17q in one French family in which missense mutations were identified14. Thus there are two kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (primary adhalinopathies), and one in which absence of adhalin is secondary to a separate gene defect on chromosome 13. We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa. Disease severity varies in age of onset and rate of progression, and patients with null mutations are the most severely affected.