Congruency of genetic predisposition to lactase persistence and lactose breath test

The physiological decline of lactase production in adulthood, in some individuals, is responsible for the so-called “Lactose Intolerance.” This clinical syndrome presents with gastrointestinal and non-gastrointestinal symptoms following the consumption of dairy containing food. Lactose intolerance can be evaluated by means of the Lactose Breath Test (phenotype) and/or genetic evaluation of lactase-gene polymorphism (genotype). A comparison of the two tests was carried out in a large number of symptomatic adult subjects, which are selected and not representative of the general population. Congruency was as high as 88.6%. Among lactase non-persistent (genotype C/C), 14 subjects showed a negative Lactose Breath Test (LBT), possibly due to young age. Among lactase-persistent (genotype C/T), four subjects showed a positive LBT, which helps to diagnose secondary lactose intolerance. Symptoms, both gastrointestinal and extra-gastrointestinal, were reported by 90% of patients during the breath test. Clinical use of both tests in the same patients could be taken into consideration as a sharp diagnostic tool. We suggest considering the use of the genetic test after LBT administration, when secondary hypolactasia is suspected, for completion of diagnostic procedures

Reconstructing the diets of neolithic humans from two sites in Liguria using bone collagen stable isotope analysis (δ13C and δ15N)

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Stratégies de subsistance et analyse culturelle de populations néolithiques de Ligurie : approche par l’étude isotopique (δ13C et δ15N) des restes osseux

Depuis environ dix millénaires, l’Homme a appris à gérer et produire ses propres ressources alimentaires. En Ligurie, l’exploitation du milieu marin proche et l’acquisition des techniques agropastorales au moment de la néolithisation (VIemillénaire av. J.-C.) sont mises en évidence par les études archéologiques et paléoenvironnementales. Cependant, connaître la prépondérance de l’utilisation d’un milieu par rapport à un autre et l’évolution de ces choix de subsistance, au cours du Néolithique, n’est pas chose aisée. La présence de restes humains (sépultures) et d’animaux (couches d’habitat) a permis l’utilisation de méthodes isotopiques et notamment l’étude du δ13C et du δ15N du collagène, témoin de l’origine des ressources protéiniques consommées. Cette méthode tente, d’une part, d’appréhender l’importance ou non des protéines d’origine marine dans l’alimentation des premiers agropasteurs et, d’autre part, de cerner les différences alimentaires qui ont pu exister au sein des populations. Deux sites néolithiques côtiers ont fait l’objet de notre étude : Pendimoun (France) et Arene Candide (Italie). Les résultats montrent, entre autres, l’absence de consommation régulière de ressources marines et des différences alimentaires au sein des populations.For the last ten millennia humans have learned how to manage and produce their own food resources. In Liguria, the exploitation of the marine and coastal environment as well as the acquisition and use of agriculture and pastoralism at the time of Neolithisation (i.e. 6th millennia BC) are evidenced by both archaeological and palaeoenvironmental studies. However, it is difficult, using these methods, to determine the relative contributions to human diets made by foods from these difference sources, especially throughout the Neolithic period. The presence of human burials and animal remains from various sites from this region allows the use of isotopic methods, and in particular the study of the δ13C and δ15N values of bone collagen, which provides information on the sources of dietary protein. This method is able to determine the relative importance of marine foods in the diets of the early Neolithic agriculturalists and pastoralists, as well as indicate dietary differences between contemporary populations. Two coastal Neolithic sites were the subject of our study: Pendimoun (France) and Arene Candide (Italy). The results show, contrary to expectations, the absence of regular consumption of marine resources and the food differences within the populations

A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

IntroductionFolliculin, encoded by FLCN gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the Birt–Hogg–Dubé (BHD) syndrome, characterized by follicle hamartomas, kidney tumors and pneumothorax.Patient and resultsWe report a 74-years-old woman diagnosed with dementia and carrying a FLCN alteration in absence of any sign of BHD. She also carried an alteration of MAT1A gene, which is also implicated in the regulation of mTORC1.DiscussionThe MAT1A variant could have prevented the development of a FLCN-related oncological phenotype. Conversely, our patient presented with dementia that, to date, has yet to be documented in BHD. Folliculin belongs to the DENN family proteins, which includes C9orf72 whose alteration has been associated to neurodegeneration. The folliculin perturbation could affect the C9orf72 activity and our patient could represent the first human model of a relationship between FLCN and C9orf72 across the path of autophagy

Mobility in Neolithic Liguria (Italy): a biomechanical approach

Traditional approaches to the analysis of mobility in Neolithic samples from Liguria (Italy) provide equivocal results. Evidence of high levels of locomotory stress provided by lower limb muscolo-skeletal markers is not fully supported by external diaphyseal measures of robusticity. To clarify these contrasting findings, we use cross sectional geometric properties of the mid-shaft femur. The Neolithic sample includes eight males and eight females found in a restricted area (Finale Ligure, Savona) and dated to the fourth millennium BC. Samples of Late Upper Paleolithic (LUP) and Mesolithic European femora are used for comparisons. While all female indicators of bending strength decrease steadily through time, Neolithic male values approach those of LUP and even show an increase relative to the Mesolithic group. This result suggests a level of mechanical stress for Neolithic males that is unexpected, given patterns observed on skeletal populations and theoretical expectations for decreased mobility with the advent of food-producing economies. Interestingly, however, expectations are fulfilled at regional level, i.e. when comparing Neolithic males and the last hunter-gatherers from the same area. Liguria is a mountainous region and this finding points once again to the importance of the nature of the terrain for lower limb remodeling. Moreover, the marked sexual dimorphism characterizing the Neolithic sample suggests quite different male-female mobility patterns, probably reflecting the importance of pastoral activity, well-documented in the Ligurian archeological record