Development of new genetic resources for faba bean (Vicia faba L.) breeding through the discovery of gene-based SNP markers and the construction of a high-density consensus map.

Faba bean (Vicia faba L.) is a pulse crop of high nutritional value and high importance for sustainable agriculture and soil protection. With the objective of identifying gene-based SNPs, transcriptome sequencing was performed in order to reduce faba bean genome complexity. A set of 1,819 gene-based SNP markers polymorphic in three recombinant line populations was selected to enable the construction of a high-density consensus genetic map encompassing 1,728 markers well distributed in six linkage groups and spanning 1,547.71 cM with an average inter-marker distance of 0.89 cM. Orthology-based comparison of the faba bean consensus map with legume genome assemblies highlighted synteny patterns that partly reflected the phylogenetic relationships among species. Solid blocks of macrosynteny were observed between faba bean and the most closely-related sequenced legume species such as pea, barrel medic or chickpea. Numerous blocks could also be identified in more divergent species such as common bean or cowpea. The genetic tools developed in this work can be used in association mapping, genetic diversity, linkage disequilibrium or comparative genomics and provide a backbone for map-based cloning. This will make the identification of candidate genes of interest more efficient and will accelerate marker-assisted selection (MAS) and genomic-assisted breeding (GAB) in faba bean.

Initiating the ketogenic diet in infants with treatment refractory epilepsy while maintaining a breast milk diet.

PURPOSE: The ketogenic diet has been found to be safe and effective in the treatment of drug resistant epilepsy in childhood. The age range of children undergoing this treatment has steadily been going down. There is strong evidence that it is a safe alternative in infants with drug resistant seizures. The American Academy of Pediatrics strongly supports continuing a breast milk diet until infants are at least six months of age. The purpose of this study is to evaluate the safety and efficacy of the ketogenic diet in infants while maintaining a breast milk diet. METHOD: This is a cohort study of 9 infants between the ages of 1 and 13 months with drug resistant epilepsy treated with the ketogenic diet while maintained on breast milk. The data from the first two patients was gathered retrospectively while the other seven were studied prospectively. RESULTS: We show that all nine infants achieved and maintained ketosis effectively. While one infant had no change in seizure frequency, three were seizure free at the first follow-up visit and four had a burden of seizure reduction greater than 50%. The diet was overall well tolerated, although one child required a hospital stay for dehydration and metabolic acidosis. CONCLUSION: The ketogenic diet can be safely and effectively initiated in infants while continuing human breast milk feedings.

[Respiratory isolation in suspected tuberculosis with negative direct sputum examination]. / Isolement respiratoire en cas de suspicion de tuberculose avec examen direct négatif.

Airborne isolation is the main confinement measure used to limit human-to-human transmission of tuberculosis. If implemented early, precisely as soon as the patient is clinically diagnosed with tuberculosis, this measure will protect the population, particularly the health workers who are exposed. A patient suspected of being infected with tuberculosis can create a difficult situation if microbiological examination of his respiratory secretions is negative. This is a complex laboratory technique and sensitivity varies from one test to another. Thus, a false negative result is possible; meaning that a patient can have positive results on a microbiological culture performed later. This patient would still have low, but not no, contagiousness as long as a treatment has not been initiated. This situation can extend the period of respiratory isolation while further diagnostic investigations are carried out. This extended isolation can reduce the quality of health care delivered and patients can show signs of depression and anxiety. The use in routine clinical investigation of gene amplification tools should allow a rethinking of respiratory isolation rules. These tools, which are very sensitive and with a short reporting time, could drastically reduce the duration of respiratory isolation for patients suspected of being infected with tuberculosis.

A refresher on Tourette syndrome.

Tourette Syndrome (TS) is recognized as a more common neurodevelopmental disorder than once thought. In this article we present an update on TS including the DSM-5 revised criteria, new findings in the genetics of TS, treatment advances such as new medications for tics and the use of new tools including Cognitive Behavioral Intervention for Tics (CBIT). We also explore supportive services for the ongoing care of patients using nursing education and family therapy.

7Be, 210Pb and 137Cs concentrations in cloud water.

Cloud water was sampled during 8 months, in 2008 and 2009, at the puy de Dome high-altitude atmospheric research station (France). The concentrations of (7)Be and (210)Pb, both naturally occurring radionuclides, and (137)Cs of anthropogenic origin, were determined. Those values are useful for a better knowledge of the aftermath cloud deposition and more generally for wet deposition assessment of radionuclides. This is of primary interest in case of a nuclear accident, especially considering (137)Cs deposition, both for high-altitude locations that are regularly embedded by clouds and also for lowlands where fog can occur. The (7)Be and (210)Pb average activity concentrations in cloud water found were 1.9±0.11 mBq m(-3) air and 140±10 µBq m(-3) air, respectively. For (137)Cs, the average concentration was 0.14±0.02 µBq m(-3) air. This very low-level is representative of the long term post-accidental background level. Indeed, for the studied period, the last accidental (137)Cs release was that of Chernobyl accident, in April 1986. To our knowledge this is the first data about (137)Cs reference level determination in cloud water. The comparison between cloud water and rain water concentrations showed a ratio cloud/rain ranging between 3.4 and 8.1, in agreement with previous studies performed on inorganic compounds. Scavenging efficiencies of aerosols by cloud droplets were also calculated with the additional aerosol concentrations routinely measured at the station and were quite low (0.13-0.40) compared to what has previously been observed for inorganic soluble ions.

Pretreatment EEG in childhood absence epilepsy: associations with attention and treatment outcome.

OBJECTIVE: In children with newly diagnosed childhood absence epilepsy (CAE), determine pretreatment EEG features and their associations with baseline neuropsychological function and short-term treatment outcome. METHODS: In a multicenter, randomized clinical trial, patients with CAE underwent a pretreatment, 1-hour video-EEG and neuropsychological testing with freedom-from-failure and seizure-freedom (SF) outcome assessed at the 16- to 20-week visit. RESULTS: Detailed evaluation of the pretreatment EEG was possible for 99.8% of participants (445/446). Median time to first seizure was 6.0 minutes (range 0-59 minutes), median number of seizures was 5 (range 1-60), and median seizure duration was 10.8 seconds (range 3.3-77.6 seconds). Median duration of shortest seizure per EEG was 7.5 seconds (range 3.0-77.6 seconds). Seizure frequency was not associated with baseline measures of attention, executive function, or treatment outcome. Presence of a seizure lasting ≥20 seconds was noted in 29% of subjects (129/440); these children had higher median omissions T score on the Conners Continuous Performance Test (56.3 vs 51.6, p = 0.01). Patients with a shortest seizure of longer duration were more likely to demonstrate treatment success by both freedom-from-failure (p = 0.02) and SF (p = 0.005) criteria, even after controlling for age, treatment group, and number of seizures, with good predictive value (area under the curve 78% for SF). CONCLUSIONS: CAE is reliably and quickly confirmed by EEG. Occurrence of a seizure ≥20 seconds, but not overall seizure frequency, was associated with differential baseline measures of attention. Patients whose shortest pretreatment EEG seizure was longer in duration were more likely to achieve SF, regardless of treatment.

Comparative trends and seasonal variation of 7Be, ²¹°Pb and ¹³7Cs at two altitude sites in the central part of France.

The atmospheric concentrations of ¹³7Cs, ²¹°Pb, and 7Be were measured over a three-year period at two research stations located less than 12 km apart and at different altitudes (puy de Dôme, 1465 m a.s.l. and Opme, 660 m a.s.l., France). Seasonal trends in all radionuclides were observed at both stations, with high concentration measured during the summer and low concentrations during the winter. The ²¹°Pb concentrations at both stations were similar to each other. Higher concentrations of both 7Be and ¹³7Cs were measured at puy de Dôme than at Opme. These observations can be explained by the stratospheric and upper tropospheric sources of 7Be and the long-range transportation of ¹³7Cs at high altitudes. Air mass origins during sampling periods were classified into several groups by their route to the stations (marine, marine modified, continental and mediterranean). We observed that 7Be concentrations were constant regardless of the air mass origins, unlike ¹³7Cs and ²¹°Pb concentrations that increased when influenced by continental air masses. Higher 7Be concentrations were observed when air masses were arriving from the upper troposphere than from the boundary layer, the opposite was observed for ¹³7Cs. The temporal trend in concentrations of 7Be shows good agreement with previous modelling studies suggesting that there is a good understanding of its sources and the atmospheric vertical mixing of this radionuclide. The sources and mixing of ²¹°Pb, however, seem to be more complex than it appeared to be in previous modelling studies.

[Autism, genetics and synaptic function alterations]. / Autisme, génétique et anomalies de la fonction synaptique.

Autism is a neurodevelopmental disorder characterized by a deficit of language and communication both associated with a restricted repertoire of activities and interests. The current prevalence of autistic disorder stricto sensu is estimated at 1/500 whereas autism spectrum disorders (ASD) increases up to 1/150 to 1/200. Mental deficiency (MD) and epilepsy are present in numerous autistic individuals. Consequently, autism is as a major public health issue. Autism was first considered as a non biological disease; however various rational approaches for analysing epidemiological data suggested the possibility of the influence of genetic factors. In 2003, this hypothesis was clearly illustrated by the characterization of genetic mutations transmitted through a mendelian manner. Subsequently, the glutamate synapse appeared as a preferential causal target in autism because the identified genes encoded proteins present in this structure. Strikingly, the findings that an identical genetic dysfunction of the synapse might also explain some MD suggested the possibility of a genetic comorbidity between these neurodevelopmental conditions. To date, various identified genes are considered indifferently as "autism" or "MD" genes. The characterization of mutations in the NLGN4X gene in patients with Asperger syndrome, autism without MD, or MD without autism, was the first example. It appears that a genetic continuum between ASD on one hand, and between autism and MD on the other hand, is present. Consequently, it is likely that genes already involved in MD will be found mutated in autistic patients and will represent future target for finding new factors in autism.

Nutritional properties of potato protein concentrate compared with soybean meal as the main protein source in feed for the double-muscled Belgian Blue bull.

The objective of this experiment was to compare the nutritional properties of potato protein concentrate, a by-product of the starch industry produced entirely in Europe, with that of soybean meal (SBM), for growing cattle. The experiment was conducted on double-muscled Belgian Blue bulls, fitted with rumen, duodenal and ileal cannulas, according to a 4 × 4 Latin square design. They were fed three different iso-N and iso-net energy diets formulated according to the Dutch feed evaluation system, differing in the nature of the main protein source, which was either SBM ('SBM' treatment), potato protein concentrate (PPC, 'PPC' treatment) or an iso-N mixture of these two protein sources ('mixed' treatment). A fourth treatment consisted of 'PPC' supplemented by 9.5% digestible proteins supplied by duodenal perfusion of sodium caseinate (CAS, 'PPC + CAS' treatment). No significant difference was observed in the ruminal fluid pH, whereas both 'PPC' and 'PPC + CAS' had the effect of reducing the ruminal ammonia nitrogen (N-NH3) concentration. No significant difference was observed in the apparent intestinal digestibility of the dry matter (DM), organic matter (OM) or N. Outflows of non-NH3-N, microbial proteins and dietary proteins from the rumen were similar for 'PPC', 'SBM' and 'mixed', and increased with CAS infusion by 20%, 17% and 27%, respectively. On the basis of in vivo observations, the degradability of SBM and PPC proteins was estimated at 0.60 and 0.43, respectively, corresponding to the values quoted in the literature. The supply of digestible essential amino acids (EAA) was significantly greater with 'PPC + CAS' and did not differ among 'SBM', 'mixed' and 'PPC'. This illustrates the difficulty of altering the amino acid (AA) pattern of digestible protein by the nature of the protein of dietary origin when an animal is fed a high nutritional value diet. N retention was not affected by replacing SBM with PPC, but increased by 10% with CAS infusion. On the basis of the plasma AA pattern, the supply of digestible Met was probably limiting with 'SBM', 'mixed' and 'PPC'. The CAS perfusion supplemented all AA, including Met, leading to increased N retention. This improvement was limited, however, and N utilisation remained unchanged between treatments. In conclusion, despite a more favourable EAA pattern, PPC offered no advantage compared with SBM for growing bulls when diets were formulated according to the Dutch feed evaluation system.

[Lower urinary tract dysfunction and parkinsonian syndromes]. / Troubles vésico-sphintériens des syndromes parkinsoniens.

Lower urinary tract dysfunction is frequent in Parkinson's disease and other Parkinsonian syndromes and can cause urinary incontinence complicating a urgency-frequency syndrome or on the contrary, dysuria. These disorders are a frequent urological presenting complaint due to their impact on the patient's quality of life. Urologists must be aware of the different natural histories of diseases such as Parkinson's disease and Parkinsonian syndromes such as multisystem atrophy, which often have a severe course and are marked by resistance to neuropharmacological treatments. These various diseases can also directly induce urinary symptoms, independently of urological complications. Inversely, the development of urinary disorders, especially obstructive symptoms, in a patient with Parkinsonian syndrome may require review of the neurological diagnosis. Finally, therapeutic management is complex due to the difficulty of using pharmacological treatments, and the risk of deterioration after surgical treatment of obstructive uropathy.

Lattice melting and rotation in perpetually pulsating equilibria.

Systems whose potential energies consists of pieces that scale as r;{-2} together with pieces that scale as r;{2} , show no violent relaxation to Virial equilibrium but may pulsate at considerable amplitude forever. Despite this pulsation these systems form lattices when the nonpulsational "energy" is low, and these disintegrate as that energy is increased. The "specific heats" show the expected halving as the "solid" is gradually replaced by the "fluid" of independent particles. The forms of the lattices are described here for N18 and they become hexagonal close packed for large N . In the larger N limit, a shell structure is formed. Their large N behavior is analogous to a gamma=53 polytropic fluid with a quasigravity such that every element of fluid attracts every other in proportion to their separation. For such a fluid, we study the "rotating pulsating equilibria" and their relaxation back to uniform but pulsating rotation. We also compare the rotating pulsating fluid to its discrete counterpart, and study the rate at which the rotating crystal redistributes angular momentum and mixes as a function of extra heat content.

[Manufacture of DNA chips in a laboratory for internal use: legislation and quality assurance]. / Fabrication de puces à ADN par un laboratoire pour sa propre utilisation: réglementation et assurance qualité

Manufacturing and using DNA chips in a laboratory, while respecting legality and good practices, require a review of the regulatory framework and relevant documentation for implementing a quality assurance system. Using DNA chips, either as a research tool, or as an in vitro diagnostic medical device, does not come within the same regulations: none in the first case, and european directive 98/79/CE in the second one. It is the same for research practice, for which the law to be enforced has been primarily conditioned to ethics, while carrying out medical analyses has been framed in France by the GBEA. The regulatory approach laid down in the GBEA is a first step for implementing a quality assurance system, but this must be extended to the manufacturing process of DNA chips. International standards (ISO 9001: 2000, ISO/IEC 15189...) provide documentation to meet this last requirement, but also enable one to carry on the quality approach up to the certification of the laboratory or its accreditation.

A fluorescence microplate assay using yopro-1 to measure apoptosis: application to HL60 cells subjected to oxidative stress.

A new one-step labeling procedure using the membrane permeant fluorescent probe yopro-1 in association with fluorescence microtitration for the rapid determination of apoptosis is reported. Programmed cell death was induced by the pro-apoptotic agents etoposide and staurosporine, and measured in nonadherent HL60 cells and adherent phorbol 12-myristate 13-acetate (PMA)-treated HL60 cells. Cell viability was controlled by trypan blue exclusion and calcein-AM staining. To confirm results of fluorescence microplate assay, apoptosis was measured by flow cytometry analysis using the same fluorescent probe, and results showed corresponding data between both procedures. Development of apoptosis was confirmed by the presence of PARP (poly(ADP-ribose) polymerase cleavage and nuclear DAPI (4,6-diamidino-2-phenylindole) staining, two well-known methods used to investigate apoptosis. The fluorescence microplate assay was also applied to measure apoptosis in cells exposed to an oxidative stress induced by tert-butylhydroperoxide (t-BHP), and results confirmed the potential of the fluorescence microplate assay in measuring events of apoptosis, especially in adherent, cultured, living cells.

Prism adaptation to rightward optical deviation improves postural imbalance in left-hemiparetic patients.

Left-hemiparetic patients show predominant postural imbalance as compared to right-hemiparetic patients. The right hemisphere is crucial for generating internal maps used for perceptual and premotor processing of spatial information. Predominant postural imbalance with right-brain damage could thus result from a distortion of an internal postural map. Well-known manifestations of distorted internal maps due to right-hemisphere lesions, such as hemineglect, may show improvement following prism adaptation shifting the visual field to the right. We therefore investigated the effect of prism adaptation on postural imbalance in left-hemiparetic patients. Three groups of five patients were either adapted to prisms deviating the visual field to the right or left or exposed to neutral prisms while performing reaching movements of the right arm. Postural imbalance was reduced only following prism adaptation to the right. Thus, brief adaptation (i.e., 3 min) to rightward-shifting prisms can dramatically improve postural imbalance. This result shows that the effect of exposure to prisms that horizontally shift the visual field to the right in a reaching task generalizes to the postural system, and it suggests an interaction between horizontal and vertical reference frames. This also supports the theory that predominant postural imbalance in patients with right-brain damage may be partly related to a distortion of an internal postural map.

[Pharyngeal Wegener's disease: a case report]. / A propos d'un cas de forme pharyngée de maladie de Wegener.

We report a case of Wegener's disease with an exceptional 10-year course before diagnosis subsequent to the development of severe ENT features. Mucosal ulcerations involving the mouth and the pharynx were highly extensive and resolved completely, but temporarily, with cyclophosphamide and corticosteroid therapy.

Integrins of the beta1 family influence keratinocyte-lymphocyte interaction.

Data from the literature indicate that ICAM-1 molecules play an important role in keratinocyte interactions with lymphocytes via the lymphocyte function-associated-1 lymphocyte-adhesion molecule. We examined the role of beta1 integrins in keratinocyte-lymphocyte adhesion under different activation conditions. Among the beta1 integrins expressed on keratinocytes and lymphocytes detected by indirect immunofluorescence microscopy and flow cytofluorometry, primarily the alpha2 and the alpha3 subunits on both cell types were involved in keratinocyte-lymphocyte adhesion. Moreover, the highest adhesion level was observed when both cell types were activated by IFN-gamma for keratinocytes and phorbol 12-myristate 13-acetate for lymphocytes, suggesting that the former involved the protein kinase C pathway. Keratinocyte activation, characterized by the expression of ICAM-1, a decrease of beta1 integrins, and the absence of alpha5beta1 integrin, was required for optimal lymphocyte adhesion. Thus, beta1 integrins remaining at the surface of IFN-gamma-treated keratinocytes could be activated by this cytokine, and could synergize with ICAM-1 and lymphocyte function-associated-1 molecules to consolidate keratinocyte-lymphocyte adhesion.