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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
No full textInternational audienceAutosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in LDLR, APOB, PCSK9 and APOE genes. We sought to identify new candidate genes responsible for the ADH phenotype in patients without pathogenic variants in the known ADH-causing genes by focusing on a French family with affected and non-affected members who presented a high ADH polygenic risk score (wPRS). Linkage analysis, whole exome and whole genome sequencing resulted in the identification of variants p.(Pro398Ala) in CYP7A1, p.(Val1382Phe) in LRP6 and p.(Ser202His) in LDLRAP1. A total of 6 other variants were identified in 6 of 160 unrelated ADH probands: p.(Ala13Val) and p.(Aps347Asn) in CYP7A1; p.(Tyr972Cys), p.(Thr1479Ile) and p.(Ser1612Phe) in LRP6; and p.(Ser202LeufsTer19) in LDLRAP1. All six probands presented a moderate wPRS. Serum analyses of carriers of the p.(Pro398Ala) variant in CYP7A1 showed no differences in the synthesis of bile acids compared to the serums of non-carriers. Functional studies of the four LRP6 mutants in HEK293T cells resulted in contradictory results excluding a major effect of each variant alone. Within the family, none of the heterozygous for only the LDLRAP1 p.(Ser202His) variant presented ADH. Altogether, each variant individually does not result in elevated LDL-C; however, the oligogenic combination of two or three variants reveals the ADH phenotype
Plasma Levels of Free NƐ-Carboxymethyllysine (CML) after Different Oral Doses of CML in Rats and after the Intake of Different Breakfasts in Humans: Postprandial Plasma Level of sRAGE in Humans
No full textInternational audienceN-carboxymethyl-lysine (CML) and other dietary advanced glycation end-products (AGEs) are chemically modified amino acids with potential toxicological effects putatively related to their affinity with the receptor for AGEs (RAGE). The goal of this study was to determine the postprandial kinetics of CML in both rodents and humans and, in the latter, to evaluate their relationship with the soluble RAGE isoforms (sRAGE). Four gavage solutions containing different forms of CML were given to rats, and blood was collected over 8 h. Three different breakfasts containing dietary CML (dCML) were administered to 20 healthy volunteers, and blood was collected over 2 h. Concentrations of CML, CEL, and lysine were quantified in plasma and human meals by LC-MS/MS, and sRAGE was determined in human plasma by ELISA. The results showed that dCML did not affect the concentrations of circulating protein-bound CML and that only free CML increased in plasma, with a postprandial peak at 90 to 120 min. In humans, the postprandial plasmatic sRAGE concentration decreased independently of the dAGE content of the breakfasts. This study confirms reports of the inverse postprandial relationship between plasmatic free CML and sRAGE, though this requires further investigation for causality to be established
Novel Trends in Dental Color Match Using Different Shade Selection Methods: A Systematic Review and Meta-Analysis
No full textSince color matching is considered a subjective procedure, accurate shade choice is often the most challenging stage of recreating the natural appearance of teeth. Furthermore, accurate determination of tooth color is imperative for the final outcome of dental restorations. The purpose of this research is to assess the accuracy of color match between diverse shade selection methods throughout a systematic review and meta-analysis. Two independent investigators (L.H. and R.B.) screened the literature in five electronic databases. Randomized controlled trials or in vitro papers studying the effect of using either digital shade selection or visual shade selection on the accuracy of color match were included. A total of 13 manuscripts comprised the meta-analysis. Color difference (ΔE) between restorations where the shade matching was performed by the conventional method was greater than those where the shade matching was performed by computerized methods (p = 0.007). According to the subgroup analysis, only the use of digital photographs for shade matching showed a reduction in the (ΔE) (p < 0.0001), while the use of a spectrophotometer has no advantages over the use of visual shade guide tabs (p = 0.57). On the other hand, global analysis showed that incorrect shade matching was higher when the conventional method using shade guide tabs was used (p < 0.001), irrespective of whether a spectrophotometer or a digital camera was used (p < 0.001). This study concluded that the use of digital photography and spectrophotometric measurements led to fewer color differences and less incorrect shade matching than conventional methods using color shade tabs
The rib cage: a new element in the spinopelvic chain
No full textInternational audienceIntroduction: This study analyzes anatomical variations of the thoracic cage (TC) according to spinopelvic alignment, age and gender using stereoradiography in erect position.Methods: This retrospective multicentric study analyzed computed parameters collected from free-standing position bi-planar radiographs, among healthy subjects. Collected data were: age, gender, pelvic parameters (Pelvic Incidence, Pelvic Tilt (PT) and Sacral Slope), T1-T12 Kyphosis (TK), L1-S1 Lordosis (LL), curvilinear spinal length, global TC parameters (maximum thickness and width, rib cage volume, mean Spinal Penetration Index (SPI)), 1st–10th rib parameters (absolute and relative (to the corresponding vertebra) sagittal angles).Results: Totally, 256 subjects were included (140 females). Mean age was 34 (range: 8–83). Significant correlations were found between TK and TC thickness (0.3, p < 0.001) and with TC Volume (0.3, p = 0.04), as well as rib absolute sagittal angle for upper and middle ribs (0.2, p = 0.02). Conversely, a −0.3 correlation has been exhibited between SPI and TK. Similar correlations were found with LL. PT significantly correlated with TC thickness (0.4, p = 0.003), SPI (−0.3, p = 0.03), and all rib relative sagittal angles. Among global TC parameters, only thickness and SPI significantly changed after 20 years (respectively, 0.39 and −0.52, p < 0.001). Ribs relative sagittal angle showed negative correlation with age in skeletally mature subjects (p < 0.001).Conclusion: This study demonstrates the correlation between TC anatomy and spinopelvic parameters, confirming its part of the spinopelvic chain of balance. Indeed, higher spinal curvatures were associated with lower SPI and higher TC thickness, TC volume and rib absolute sagittal angles
Could the re-emerging practice of wild boar hunting linked to the recent economic crisis lead to new outbreaks of trichinellosis in Lebanon?
No full textInternational audienceBackground: Documented trichinellosis outbreaks in Lebanon date back to the late 19th century. The first published outbreaks were attributed to the consumption of wild boar meat, while those that followed incriminated pork. The practice of hunting wild boar is currently re-emerging in Lebanon given the recent economic crisis that has limited the purchase of livestock meat. Results: In Lebanon, at least 15 outbreaks of trichinellosis have been reported since 1870. We report an outbreak in January 2019, where five of the fifteen people present at a barbecue party were diagnosed with trichinellosis after wild boar meat consumption. Two subspecies of wild boar, Sus scrofa libycus and Sus scrofa scrofa, are commonly targeted by hunters. Hunters and consumers are sometimes unaware of the ineffectiveness of freezing meat and cooking over a wood fire to avoid trichinellosis. Unexpectedly, the National Center for Zoonosis Control receives every year 4 samples of wild boar meat, all free of Trichinella sp. larvae. Conclusion: Trichinellosis, a zoonosis typically unrecognized or undeclared, still represents a risk linked to the consumption of meat from wild animals, especially wild boar. Consumers, hunters, veterinarians, and butchers need to be further educated. Government regulation of wild boar hunting should be implemented to prevent further outbreaks
Alteration of the sitting and standing movement in adult spinal deformity
No full textInternational audienceAdults with spinal deformity (ASD) are known to have spinal malalignment affecting their quality of life and daily life activities. While walking kinematics were shown to be altered in ASD, other functional activities are yet to be evaluated such as sitting and standing, which are essential for patients’ autonomy and quality of life perception. In this cross-sectional study, 93 ASD subjects (50 ± 20 years; 71 F) age and sex matched to 31 controls (45 ± 15 years; 18 F) underwent biplanar radiographic imaging with subsequent calculation of standing radiographic spinopelvic parameters. All subjects filled HRQOL questionnaires such as SF36 and ODI. ASD were further divided into 34 ASD-sag (with PT > 25° and/or SVA >5 cm and/or PI-LL >10°), 32 ASD-hyperTK (with only TK >60°), and 27 ASD-front (with only frontal malalignment: Cobb >20°). All subjects underwent 3D motion analysis during the sit-to-stand and stand-to-sit movements. The range of motion (ROM) and mean values of pelvis, lower limbs, thorax, head, and spinal segments were calculated on the kinematic waveforms. Kinematics were compared between groups and correlations to radiographic and HRQOL scores were computed. During sit-to-stand and stand-to-sit movements, ASD-sag had decreased pelvic anteversion (12.2 vs 15.2°), hip flexion (53.0 vs 62.2°), sagittal mobility in knees (87.1 vs 93.9°), and lumbar mobility (L1L3-L3L5: −9.1 vs −6.8°, all p 2 = 0.44). Lumbar sagittal ROM was determined by PI-LL mismatch (adj. R2 = 0.13). In conclusion, the type of spinal deformity in ASD seems to determine the strategy used for sitting and standing. Future studies should evaluate whether surgical correction of the deformity could restore sitting and standing kinematics and ultimately improve quality of life
Influence of substrate/inoculum ratio, inoculum source and ammonia inhibition on anaerobic digestion of poultry waste
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Forest Genetics Research in the Mediterranean Basin: Bibliometric Analysis, Knowledge Gaps, and Perspectives
No full textInternational audiencePurpose of Review Recognizing that in the context of global change, tree genetic diversity represents a crucial resource for future forest adaptation, we review and highlight the major forest genetics research achievements of the past decades in biodiversity-rich countries of the Mediterranean region. For this, we conducted a bibliometric analysis of the scientific literature spanning the past thirty years (1991-2020). Putting together the representative regionwide expertise of our co-authorship, we propose research perspectives for the next decade. Recent Findings Forest genetics research in Mediterranean countries is organized into three different scientific domains of unequal importance. The domain "Population diversity and Differentiation" related to over 62% of all publications of the period, the domain "Environmental conditions, growth and stress response" to almost 23%, and the domain "Phylogeography" to almost 15%. Citation rate was trending the opposite way, indicating a strong and sustained interest in phylogeography and a rising interest for genetics research related to climate change and drought resistance. The share of publications from Asia and Africa to the total within the Mediterranean increased significantly during the 30-year period analyzed, reaching just below 30% during the last decade. Describing poorly known species and populations, including marginal populations, using the full potential of genomic methods, testing adaptation in common gardens, and modeling adaptive capacity to build reliable scenarios for forest management remain strategic research priorities. Delineating areas of high and low genetic diversity, for conservation and restoration, respectively, is needed. Joining forces between forest management and forest research, sharing data, experience, and knowledge within and among countries will have to progress significantly, e.g., to assess the potential of Mediterranean genetic resources as assisted migration material worldwide. Introductory quote: Let us collect with care the facts we can observe, let us consult experience wherever we can, and when this experience is inaccessible to us, let us assemble all the inductions which observation of facts analogous to those which escape us can furnish and let us assert nothing categorically; in this way, we shall be able little by little to discover the causes of a multitude of natural phenomena, and, perhaps, even of phenomena which seem the most incomprehensible... J.B. de Lamarck (Philosophie zoologique, 1809), cited by O. Langlet (1971)
Chapitre V. Soin et savoir culturel : l’incontournable accordage en terrain humanitaire
No full textInternational audienceNotes de terrain : Mission exploratoire pour la mise en place d’un dispositif psychosocial dans les activités de santé communautaire conduit par une ONG suisse à Petit Gôave, Haïti.D’une ampleur sans précédent, le séisme qui frappe Haïti en janvier 2010 affecte très durement une population qui majoritairement vivait déjà une grande précarité socio-économique (Hurbon, 1987 ; Pierre et al, 2010). L’épidémie de choléra qui survient quelques mois plus tard constitue une seconde onde de choc, à laquelle ni la population ni les acteurs humanitaires présents sur place ne sont préparés. La mort avait déjà attaqué massivement l’île. Le séisme du 12 janvier 2010 avait laissé plus de 230000 morts et 220000 blessés. Le cyclone Thomas avait menacé des milliers de déplacés ; le choléra avait emporté près de 8000 personnes et avait contaminé des milliers d’autres. Chaque famille s’est retrouvée atteinte de près ou de loin par le deuil d’un proche, la perte de biens ou la crainte de perdre un membre de la famille par la maladie. Les conditions de vie des Haïtiens dans les zones rurales, déjà précaires, se sont encore détériorées
Optimization of cis-9-Heptadecenoic Acid Production from the Oleaginous Yeast Yarrowia lipolytica
No full textInternational audienceOdd-chain fatty acids (OCFA) have been studied for their therapeutic and nutritional properties, as well as for their potential use in the chemical industry for the production of biofuel. Genetic modification strategies have demonstrated an improved production of OCFA by oleaginous microorganisms. In this study, the production of OCFA-enriched lipids by fermentation using a genetically engineered Yarrowia lipolytica strain was investigated. The major fatty acid produced by this strain was the cis-9-heptadecenoic acid (C17:1). Its biosynthesis was optimized using a design of experiment strategy involving a central composite design. The optimal responses maximizing the cell density (optical density at 600 nm) and the C17:1 content (%) in lipids were found using 52.4 g/L sucrose, 26.9 g/L glycerol, 10.4 g/L sodium acetate, 5 g/L sodium propionate, and 4 g/L yeast extract. Under these conditions, in a 5 L scale bioreactor, the respective contents of lipids and C17:1 in culture medium were 2.52 ± 0.05 and 0.82 ± 0.01 g/L after 96 h fermentation. The results obtained in this work pave the way toward the process upscale of C17:1 and encourage its industrial production