Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda

From 1995 to 1997, we prospectively evaluated the prevalence of hepatitis C virus (HCV) RNA in 124 patients with porphyria cutanea tarda (PCT) from Northern France (83 sporadic and 41 familial PCT). Serum samples were analyzed for ferritin, transaminases, HCV antibodies, and HCV RNA. In addition, genotyping of HCV and searches for HCV infection risk factors (blood transfusion, iv drug abuse, and surgical intervention) were performed. Twenty-six of 124 patients (21%; 95% CI: 13.9-28) were positive for serum HCV antibodies. All of them were also positive for HCV RNA. The prevalence of HCV infection was higher in the sporadic PCT group (26.5%, 22 out of 83) than in the familial PCT group (9.7%, 4 out of 41). Risk factors for hepatitis C infection were found to be significantly increased in the HCV-positive group when compared with the HCV-negative PCT group. In all HCV-positive patients with a risk factor, the suspected date of exposure to the virus always preceded the clinical onset of PCT. The HCV genotype pattern in PCT patients was similar to that observed in nonporphyric HCV patients in western European countries. Serum ferritin level was increased in both HCV-positive and HCV-negative porphyric patients. Transaminase levels were significantly higher in HCV-infected PCT patients. Sixty-seven out of 124 patients were retrospectively studied for hepatitis G virus (HGV) infection. Six of these 67 patients (8.9%; 95% CI: 2.1-15.8) were positive for HGV RNA. None of the six HGV-infected patients were positive for HCV RNA. The HGV-infected patients did not differ statistically from those without HGV infection with regard to age, ferritin, transaminase levels, and PCT treatment. These results support the view that sporadic cases of HGV infection may occur frequently. This study of a large cohort of HCV and PCT patients further documents an increasing gradient in HCV prevalence from northern to southern Europe, and shows that HCV infection acts as a triggering factor of PCT. Finally, the HGV prevalence found in the PCT patients was comparable with that found in French blood donors, suggesting that HGV is not a PCT triggering factor.     

Solution structure of a DNA duplex containing the exocyclic lesion 3,N4-etheno-2'-deoxycytidine opposite 2'-deoxyguanosine

Vinyl chloride reacts with cellular DNA producing 3,N4-etheno-2'-deoxycytidine (epsilonC) along with other exocyclic adducts. The solution structure of an oligodeoxynucleotide duplex containing an epsilonC.dG base pair was determined by high-resolution NMR spectroscopy and molecular dynamics simulations. NMR data indicated that the duplex adopts a right-handed helical structure having all residues in anti orientation around the glycosylic torsion angle. The epsilonC adduct has a sugar pucker in the C3'-endo/C4'-exo region while the rest of the residues are in the C2'-endo/C3'-exo range. NOE interactions established Watson-Crick alignments for canonical base pairs of the duplex. The imino proton of the lesion-containing base pair resonated as a sharp signal that was resistant to water exchange, suggesting hydrogen bonding. Restrained molecular dynamics simulations generated three-dimensional models in excellent agreement with the spectroscopic data. The refined structures are slightly bent at the lesion site without major perturbations of the sugar-phosphate backbone. The adduct is displaced and shifted toward the major groove of the helix while its partner on the complementary strand remains stacked. The epsilonC(anti).dG(anti) base pair alignment is sheared and stabilized by the formation of hydrogen bonds. The biological implications of structures of epsilonC-containing DNA duplexes are discussed.     

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5-1.0 per 1000 and a ratio of sibling risk to population prevalence (lambda(s)) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.     

Use of the polymerase chain reaction in the diagnosis of leprosy

A case is described in which a pericardial branch of a nongrafted left internal mammary artery communicated directly with the distal left anterior descending artery, following saphenous vein bypass grafting. This type of collateralization following coronary artery bypass surgery seems to be very rare, and perhaps could protect the myocardium from severe ischemia.     

Using Multimedia to Support Cooperative Editing

By Cooperative Editing we mean the coordinated manipulation of information by a group of authors. During the editing process the (co-)authors need to communicate their ideas, drafts and constraints (remotely or face-to-face) until a final version of the information is achieved. For the different phases of this process - discussion of ideas, editing, cross-checking - different media or media integration are adequate. Furthermore, analysing the transition from individual work to group work, within different human activities, two pitfalls are often detected if computer support is considered: a) technological communication difficulties, especially if the group is remotely located on heterogeneous hardware, associated with a fall in productivity and frequent social inadequacies of the group's computer support; b) the lack of integrated media processing tools available for group editing. In order to solve these problems, we suggest that Multimedia can be applied in two ways: to effectively support the necessary group communication links; and to enhance the expressiveness of the information edited. To test this statement we have been conceptualising and implementing a prototype system. Most of the techniques involved can be used in other tools that need multimedia capabilities or that support other specific types of group activities. The innovative aspects of the work are the use of multimedia techniques to support demanding applications, possibly on cross-platforms, and the integration of several concepts to support cooperation.     

Hull-less Barley Varieties: Storage Proteins and Amino Acid Distribution in Relation to Nutritional Quality

Barley (Hordeum vulgare L.) has had an important impact on human nutrition. Hull-less barley is a genetically improved type that has been widely used in recent years. Six Brazilian hull-less barley varieties (IAC-IBON 214-82; IAC 8612-421; IAC 8501-31; IAC 8501-12; IAPAR 39-ACUMAI; IAC 8501-22) were analyzed for storage protein constituents, amino acid contents, and similarity among the hull-less barley varieties. Albumins, globulins, prolamins I and II, and glutelins were extracted and separated by SDS-PAGE. The total protein amino acid contents of the flour were also determined for each variety by TLC and HPLC. Variations in intensity and appearance and disappearance of protein bands were observed among the varieties suggesting genetic variability. However, the amino acid profile did not indicate any major variations in the amino acid concentrations. The high lysine and threonine total concentrations detected in the seeds of the hull-less barley varieties encouraged an investigation into the regulation of amino acid metabolism and storage protein synthesis.     

Hardware and software architecture for power quality analysis

This paper presents a novel concept for power quality hardware and software architecture. Software tools related to detection, classification and characterization of power quality events can be integrated into a Distribution Control Center in which the interconnection between different subsystems is being carried out through the Internet allowing flexibility to the system. This system is implemented using wavelet analysis applied in all proposed algorithms. Different power quality events are taken as examples to illustrate the capabilities of the proposed method. The obtained results reveal that the proposed architecture is feasible to be implemented as an integral part of a control center system.The proposed system has the property of fast and accurate detection and classification of any power quality disturbance event and introduces a new PQ index determination that allows characterizing any type of disturbance including the non-periodic signals.