Are patients with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder so different?

Diagnosing hypermobile Ehlers-Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular manifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded bone involvement, neuropathic pain (DN4) and symptoms of mast cell disorders (MCAS) as extra-articular manifestations. After a standardized initial evaluation (T0), all patients were offered the same coordinated physical therapy, were followed-up at 6 months (T1) and at least 1 year later (T2), and were asked whether or not their condition had subjectively improved at T2. We included 97 patients (61 hEDS, 36 HSD). Median age was 40 (range 18-73); 92.7% were females. Three items from CSS-16 (pain, motricity problems, and bleeding) were significantly more severe with hEDS than HSD. Bone fragility, neuropathic pain and MCAS were equally prevalent. At T2 (20 months [range 18-26]) 54% of patients reported improvement (no difference between groups). On multivariable analysis, only family history of hypermobility predicted (favorable) outcome (p = 0.01). hEDS and HDS patients showed similar disease severity score except for pain, motricity problems and bleeding, and similar spectrum of extra-articular manifestations. Long-term improvement was observed in > 50% of patients in both groups. These results add weight to a clinical pragmatic proposition to consider hEDS/HSD as a single entity that requires the same treatments

Caractéristiques cliniques et sociodémographiques des adolescents consultant au service des urgences de l’Hôpital de l’Enfance

Résumé 1.1 Contexte Les adolescents ont le plus souvent recours au système de soins par une consultation dans un service d’urgences. Les caractéristiques des adolescents qui consultent aux urgences ont été évaluées dans des études sur différents sites. Il n’y a pas à notre connaissance d’études effectuées en Suisse romande sur les adolescents aux urgences pédiatriques. Les adolescents représentent une part importante des consultations aux urgences de l’HEL1. Au mois de septembre 2014, 30% des consultations aux urgences ont été effectuées par des adolescents entre 10 et 18 ans. 1.2 Objectifs L’étude 1 vise à étudier les caractéristiques administratives et cliniques des adolescents qui consultent aux urgences de l’HEL. L’étude 2 vise à recueillir des données sociodémographiques, relatives à la santé des adolescents et à leur utilisation du système de soin. 1.3 Méthode L’étude 1 est rétrospective, à partir des dossiers médicaux des adolescents de 14 à 18 ans qui ont consulté aux urgences de l’HEL entre le 1er et le 30 septembre 2015. L’étude 2 est prospective, effectuée au moyen d’auto-questionnaires anonymes à choix multiples distribués aux adolescents entre 12 et 18 ans venus aux urgences de l’HEL entre le 1er et le 25 septembre 2015. La population des deux études étant différente, les résultats ont été analysés de manière indépendante. 1.4 Résultats principaux 301 dossiers ont été inclus dans l’étude 1. Les adolescents comptent pour 47.2% des consultations et les adolescentes 52.8%. Le score de tri est de 4 ou 5 dans 94% des cas. Le taux d’hospitalisation suite à la consultation est de 3.3%. Le suivi n’a pas été documenté dans 63.5% des cas. Ils consultent en majorité pour des motifs chirurgicaux (48.8%) et médicaux (46.6%). Les motifs psychiatriques représentent 4.6% des cas. Les diagnostics de sortie sont moins bien documentés que les motifs de consultation. 10.9% des adolescents consultaient un service d’urgences pour la 5ème fois ou plus au cours de l’année écoulée. L’étude 2 a inclus 90 patients. Aucun adolescent n’a rapporté être sans activité, avec une majorité à l’école obligatoire, au gymnase ou en apprentissage (86.6%). Ils sont de nationalité suisse dans 62.2% des cas. Ils vivent avec l’un ou leurs deux parents dans 93.3% des cas. 95.6% d’entre eux considèrent être en excellente ou bonne santé habituelle. Ils sont 91.1% à avoir un médecin de premier recours et parmi eux, 17.1% ne l’ont jamais vu au cours de l’année écoulée. 81% des jeunes ont consulté en présence d’un adulte. Ils ont choisi eux-mêmes de consulter dans un tiers des cas. 10% déclarent s’être rendus aux urgences plus de 5 fois au cours de l’année écoulée. 1.5 Discussion et Conclusion Les deux études présentées ont permis de mieux caractériser la population adolescente qui consulte aux urgences de l’HEL. Après comparaison avec la littérature, les enjeux auxquels sont confrontés les services d’urgences accueillant des adolescents semblent partagés par l’HEL. Nous proposons plusieurs axes de réflexion pour l’amélioration de la prise en charge des adolescents aux urgences de l’HEL. Différents biais ont affecté les deux études de ce travail. D’autres recherches seront nécessaires pour préciser et confirmer nos observations

Improvement of acetate production from lactose by growing Clostridium thermolacticum in mixed batch culture

Aims: The objective of this study was to increase the acetate production by Clostridium thermolacticum growing on lactose, available as a renewable resource in the milk and whey permeate from the cheese industry. Methods and Results: Experiments for increased acetate productivity by thermophilic anaerobes grown on lactose were carried out in batch cultures. Lactose at concentration of 30 mmol l(-1) (10 g l(-1)) was completely degraded by Cl. thermolacticum and growth rate was maximal. High concentrations of by-products, ethanol, lactate, hydrogen and carbon dioxide were generated. By using an efficient hydrogenotroph, Methanothermobacter thermoautotrophicus, in a defined thermophilic anaerobic consortium (58degreesC) with Cl. thermolacticum and the acetogenic Moorella thermoautotrophica, the hydrogen partial pressure was dramatically lowered. As a consequence, by-products concentrations were significantly reduced and acetate production was increased. Conclusion: Through efficient in situ hydrogen scavenging in the consortium, the metabolic pattern was modified in favour of acetate production, at the expense of reduced by-products like ethanol. Significance and Impact of the Study: The use of this thermophilic anaerobic consortium opens new opportunities for the efficient valorization of lactose, the main waste from the cheese industry, and production of calcium-magnesium acetate, an environmentally friendly road de-icer

Increased tolerance of sunflower mutant seedlings to Cd and Zn in hydroponic culture

Cadmium and zinc show similarities in their chemistry, geochemistry and environmental properties. Whereas Cd is a phytotoxic non-essential element, Zn is an essential trace element for plant growth and development. Zinc plays a fundamental role in several key cellular functions, such as protein metabolism, gene expression, chromatin structure, photosynthetic carbon metabolism and indole acetic acid metabolism (Vallee and Falchuk, 1993; Marschner, 1995; Bonnet et al., 2000; Cakmak and Braun, 2001). Zinc is also an important component of many enzymes and proteins (Broadley et al., 2007). Cadmium can readily inhibit most of the Zn-dependent processes by binding to the membrane and to enzyme active sites, thus inactivating their functions (Aravind and Prasad, 2005). However, increasing Zn concentrations can replace such wrongly bound Cd (Van Assche and Clijsters, 1990; Shaw et al., 2004). Cadmium has been shown to cause many morphological, physiological, biochemical and structural changes in plants, such as growth inhibition, reduction in photosynthesis, transpiration or water imbalance (Sanità di Toppi and Gabbrielli, 1999; Schützendübel et al., 2001; Benavides et al., 2005; Mishra et al., 2006). Cadmium and high zinc concentration affect plant growth and metabolism, but the intensity of their toxic effects depends on plant species and the way and duration of metal exposure. Plants called hyperaccumulators are able to tolerate and accumulate extraordinary levels of trace elements in their above-ground tissue without developing any toxicity symptoms (Baker and Brooks, 1989; Reeves and Baker, 2000). Their high metal accumulation capability makes them interesting for the decontamination technique called phytoextraction, which uses plants for environmental clean-up (Salt et al., 1998). However, their low biomass production strongly limits the real application of this soil decontamination strategy. The ideal plant for phytoextraction should provide both a high biomass and a high tolerance and metal accumulation (Schwitzguébel et al., 2002). High biomass producing plants with improved tolerance to trace elements and with an enhanced metal accumulation capacity should be good candidates for metal removal from contaminated area. Previous studies have shown enhanced tolerance and metal accumulation properties in transgenic tobacco plants (Pomponi et al., 2006; Gorinova et al., 2007; Wojas et al., 2008). However, the main disadvantage of genetic engineering is still public acceptance and free-land application. In vitro breeding techniques have also been successfully used to obtain tobacco lines with a considerably enhanced Cd, Zn and Cu tolerance and metal accumulation (Herzig et al., 1997; Guadagnini et al., 1999; Herzig et al., 2003). In addition, the chemical mutagen ethyl methane sulphonate has been used to develop new sunflower lines with a significantly enhanced biomass and metal uptake on a metal contaminated field (Nehnevajova et al., 2007, 2009). Although these field experiments have revealed the potential of sunflower mutants for metal phytoextraction, their tolerance to trace elements and the effect of Cd and Zn on growth and photosynthetic pigments were not studied within previous free-land experimentation. The aim of the present work was thus to assess the tolerance to Cd and excess Zn of selected sunflower mutant lines with improved biomass and metal uptake capacity, by measuring different physiological parameters. For such a purpose, sunflower seedlings of eight selected mutant lines were cultivated under hydroponic conditions in the presence and in the absence of Cd and Zn to study the effect of these trace elements on (1) growth parameters, such as root elongation, root and shoot dry mass; (2) chlorophyll content; (3) carotenoid content; (4) Cd and Zn accumulation capacity of sunflower mutants; and (5) a possible correlation between Cd and Zn accumulation in sunflower shoots and roots

Conjugation of atrazine in vetiver (Chrysopogon zizanioides Nash) grown in hydroponics

International audienceThe resistance mechanism of vetiver (Chrysopogon zizanioides Nash) to atrazine was investigated to evaluate its potential for phytoremediation of environment contaminated with the herbicide. Plants known to metabolise atrazine rely on hydroxylation mediated by benzoxazinones, conjugation catalyzed by glutathione-S-transferases (GST) and dealkylation probably mediated by cytochromes P450. All three possibilities were explored in mature vetiver grown in hydroponics during this research project. Here we report on the role of glutathione-S-transferase in the detoxification of atrazine, as determined in vetiver leaf and root of 5-week- and 8-month-old plants grown in hydroponics. Fresh vetiver roots and leaves were cut to extract and study their GST activities toward 1-chloro-2,4-dinitrobenzene (CDNB) and atrazine, using HPLC to quantify the biosynthesis of atrazine conjugates. The global GST activity was three orders of magnitude higher than that of GST isoform able to conjugate atrazine. In vitro activities of conjugation of CDNB were similar in all root and leaf vetiver extracts, whereas activities on atrazine were only detected in leaf extracts. Entire vetiver plants exposed to C-14-atrazine were found to accumulate radioactivity at the tip of leaves under moderate transpiring conditions (75% humidity). Vetiver transformed atrazine mainly into polar compounds, identified as conjugates by TLC analyses. After 20 days of exposure, the proportion of atrazine and metabolites compared to the total penetrated radioactivity into plants was: 50% of conjugates, 28% of atrazine plus possible dealkylates and 22% of unidentified products. The maximum conjugates production was observed at the tip of leaves (29 nmol g(-1) fresh biomass), as compared to roots (6 nmol g(-1) fresh biomass). Altogether, these metabolic features indicate that conjugation to glutathione was a major metabolic pathway to detoxify atrazine in vetiver. (c) 2005 Elsevier B.V. All rights reserved

Acetate production from lactose by Clostridium thermolacticum and hydrogen-scavenging microorganisms in continuous culture - Effect of hydrogen partial pressure

The effect of the addition of hydrogen-consuming microorganisms on the metabolism of Clostridium thermolacticum was studied. By growing this bacterium in continuous culture at 58 degrees C, on 29 mmol lactose l(-1) (10 g l(-1)) in the feed, with the H-2-consuming microorganisms Methanothermobacter thermoautotrophicus and Moorella thermoautotrophica, the volumetric productivity of acetate was increased up to 3.9 mmol l(-1) h(-1) at a dilution rate of 0.058 h(-1). This was about three times higher than the maximal acetate volumetric productivity quiantified when C. thermolacticum was cultivated alone. In the consortium, C. thermolacticum was the only species able to metabolize lactose; it produced not only acetate, but also hydrogen, carbon dioxide and lactate. The other species of the consortium were growing on these by-products. Meth. thermoautotrophicus played an important role as a very efficient hydrogen scavenger and decreased the hydrogen partial pressure drastically: hydrogen was converted to methane. Moor. thermoautotrophica converted lactate as well as hydrogen and carbon dioxide into acetate. As a consequence, lactose was efficiently consumed and the only organic product in the liquid phase was acetate. (C) 2005 Elsevier B.V. All rights reserved

Hydrogen production by Clostridium thermolacticum during continuous fermentation of lactose

In the production of acetate by Clostridium thermolacticum growing on lactose, considerable amounts of hydrogen were generated. Lactose available in large amounts from milk permeate, a wastestream of the dairy industry, appears to be a valuable substrate for cheap production of biohydrogen. In this study, continuous cultivation of C thermolacticum was carried out in a bioreactor, under anaerobic thermophilic conditions, on minimal medium containing 10 g l(-1) lactose. Different dilution rates and pH were tested. C thermolacticum growing on lactose produced acetate, ethanol and lactate in the liquid phase. For all conditions tested, hydrogen was the main product in the gas phase. Hydrogen specific production higher than 5 mmol H-2 (g cell)(-1) h(-1) was obtained. By operating this fermentation at high-dilution rate and alkaline pH, the hydrogen content in the gas phase was maximized. (C) 2004 International Association for Hydrogen Energy. Published by Elsevier Ltd. All rights reserved

Achilles tendon allograft for an irreparable massive rotator cuff tear with bony deficiency of the greater tuberosity

Management of combined bony and tendinous deficiency of the posterosuperior rotator cuff represents a challenge in young patients. In this case report, a 44-year-old woman that presented an osteonecrosis of the greater tuberosity had a pseudoparalytic shoulder. She beneficiated from a fresh-frozen Achilles tendon allograft with calcaneal bone, which was used to reconstruct the rotator cuff and the concomitant bony defect. At 12-month follow-up, the patient was pain free and had complete range of motion, normal strength, a SANE score of 95 and radiographically the allograft was healed. An Achilles tendon allograft may therefore be a viable surgical option to reconstruct a combine posterosuperior rotator cuff tear and greater tuberosity bone defect. Level of evidence IV