Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

Étude comparative des voyages mentaux dans le temps chez les céphalopodes

Mental Time Travels are the ability to travel mentally into one’s personal past, also known as episodic memory, and into one’s personal future, also known as future planning. To understand which evolutive pressures shape the emergence of these cognitive abilities, it is valuable to study species presenting an independent evolutionary history from the commonly studied vertebrates, such as the cephalopods. Two species of cephalopods were studied in this thesis: the common octopus and the common cuttlefish. Both share complex cognitive abilities while presenting each a unique way to handle their environmental constraints. Previous experiments showed that cuttlefish possess episodic-like memory abilities, remembering what they ate, where and how long ago. In a first experiment, we reproduced these studies with octopuses to explore their ability to use episodic-like memory. Only one individual succeeded in the task, while the others relied on variable strategies. We emitted the hypothesis that octopuses failed the task because they might not encode time in temporal distance (i.e. “how long ago”) but rather use the order of events. Octopuses were thus tested on their ability to remember the order of images in a sequence, and succeeded in the task. In another experiment, cuttlefish reconstructive memory processes were revealed using false memories, which proved to be a useful tool to explore the constructive and monitoring systems at the basis of episodic-like memory. At last, an experiment on the future planning abilities of subadult cuttlefish and octopuses showed that they did not plan for their future needs for food and/or shelter. However, some adult cuttlefish were able to plan for their future need for food, even though the majority of individuals did not. Altogether, these results indicate that cuttlefish might possess Mental Time Travels abilities while octopuses might not, hinting how ecological pressures shape the emergence of such abilities.Les voyages mentaux dans le temps sont la capacité à voyager mentalement dans son propre passé, connue sous le nom de mémoire épisodique, et dans son propre futur, connue sous le nom de planification du futur. Pour comprendre quelles pressions évolutives façonnent l’émergence de ces capacités cognitives, il est utile d’étudier des espèces présentant une histoire évolutive indépendante des vertébrés communément étudiés, telle que les céphalopodes. Deux espèces de céphalopodes ont été étudiées dans cette thèse : la seiche commune et le poulpe commun. Ces deux espèces possèdent des capacités cognitives complexes mais présentent chacune une façon unique de répondre à leurs contraintes environnementales. De précédentes expériences ont montré que la seiche possède des capacités de mémoire de type épisodique, se remémorant ce qu’elle a mangé, où et combien de temps auparavant. Dans une première expérience, nous avons reproduit ces études avec des poulpes pour explorer leur capacité à utiliser la mémoire de type épisodique. Seul un individu a réussi cette tâche, tandis que les autres poulpes ont eu recours à d’autres stratégies. Nous avons alors émis l’hypothèse que les poulpes aient échoué à cette tâche car ils ne pouvaient peut-être pas encoder le temps en termes de distance temporelle (i.e. « il y a combien de temps »), mais plutôt encoder l’ordre des évènements. Des poulpes ont donc été testés sur leur capacité à se souvenir de l’ordre des images dans une séquence, et ils ont réussi la tâche. Dans une autre expérience, les processus de mémoire reconstructive chez la seiche ont été mis en lumière en utilisant des faux souvenirs, qui se sont révélés être un outil utile pour explorer les systèmes constructifs et de monitoring à la base de la mémoire de type épisodique. Enfin, une expérience sur les capacités de planification du futur des seiches et des poulpes subadultes a montré qu’ils ne planifiaient pas leurs futurs besoins de nourriture et/ou d’abri. Cependant, certaines seiches adultes se sont montrées capables de planifier leur futur besoin de nourriture, bien que la majorité des individus ne l’ait pas fait. Ensemble, ces résultats montrent que les seiches semblent posséder des capacités de voyages mentaux dans le temps alors que les poulpes ne semblent pas en présenter, indiquant comment les pressions écologiques peuvent façonner l’émergence de telles capacités

Étude comparative des voyages mentaux dans le temps chez les céphalopodes

Mental Time Travels are the ability to travel mentally into one’s personal past, also known as episodic memory, and into one’s personal future, also known as future planning. To understand which evolutive pressures shape the emergence of these cognitive abilities, it is valuable to study species presenting an independent evolutionary history from the commonly studied vertebrates, such as the cephalopods. Two species of cephalopods were studied in this thesis: the common octopus and the common cuttlefish. Both share complex cognitive abilities while presenting each a unique way to handle their environmental constraints. Previous experiments showed that cuttlefish possess episodic-like memory abilities, remembering what they ate, where and how long ago. In a first experiment, we reproduced these studies with octopuses to explore their ability to use episodic-like memory. Only one individual succeeded in the task, while the others relied on variable strategies. We emitted the hypothesis that octopuses failed the task because they might not encode time in temporal distance (i.e. “how long ago”) but rather use the order of events. Octopuses were thus tested on their ability to remember the order of images in a sequence, and succeeded in the task. In another experiment, cuttlefish reconstructive memory processes were revealed using false memories, which proved to be a useful tool to explore the constructive and monitoring systems at the basis of episodic-like memory. At last, an experiment on the future planning abilities of subadult cuttlefish and octopuses showed that they did not plan for their future needs for food and/or shelter. However, some adult cuttlefish were able to plan for their future need for food, even though the majority of individuals did not. Altogether, these results indicate that cuttlefish might possess Mental Time Travels abilities while octopuses might not, hinting how ecological pressures shape the emergence of such abilities.Les voyages mentaux dans le temps sont la capacité à voyager mentalement dans son propre passé, connue sous le nom de mémoire épisodique, et dans son propre futur, connue sous le nom de planification du futur. Pour comprendre quelles pressions évolutives façonnent l’émergence de ces capacités cognitives, il est utile d’étudier des espèces présentant une histoire évolutive indépendante des vertébrés communément étudiés, telle que les céphalopodes. Deux espèces de céphalopodes ont été étudiées dans cette thèse : la seiche commune et le poulpe commun. Ces deux espèces possèdent des capacités cognitives complexes mais présentent chacune une façon unique de répondre à leurs contraintes environnementales. De précédentes expériences ont montré que la seiche possède des capacités de mémoire de type épisodique, se remémorant ce qu’elle a mangé, où et combien de temps auparavant. Dans une première expérience, nous avons reproduit ces études avec des poulpes pour explorer leur capacité à utiliser la mémoire de type épisodique. Seul un individu a réussi cette tâche, tandis que les autres poulpes ont eu recours à d’autres stratégies. Nous avons alors émis l’hypothèse que les poulpes aient échoué à cette tâche car ils ne pouvaient peut-être pas encoder le temps en termes de distance temporelle (i.e. « il y a combien de temps »), mais plutôt encoder l’ordre des évènements. Des poulpes ont donc été testés sur leur capacité à se souvenir de l’ordre des images dans une séquence, et ils ont réussi la tâche. Dans une autre expérience, les processus de mémoire reconstructive chez la seiche ont été mis en lumière en utilisant des faux souvenirs, qui se sont révélés être un outil utile pour explorer les systèmes constructifs et de monitoring à la base de la mémoire de type épisodique. Enfin, une expérience sur les capacités de planification du futur des seiches et des poulpes subadultes a montré qu’ils ne planifiaient pas leurs futurs besoins de nourriture et/ou d’abri. Cependant, certaines seiches adultes se sont montrées capables de planifier leur futur besoin de nourriture, bien que la majorité des individus ne l’ait pas fait. Ensemble, ces résultats montrent que les seiches semblent posséder des capacités de voyages mentaux dans le temps alors que les poulpes ne semblent pas en présenter, indiquant comment les pressions écologiques peuvent façonner l’émergence de telles capacités

Unruly octopuses are the rule: Octopus vulgaris use multiple and individually variable strategies in an episodic-like memory task

International audienceEpisodic-like memory has mainly been studied through experimental tasks in which subjects have to remember what they ate, where and when or in which context. Seemingly quite common in mammals and corvids, episodic-like memory abilities have also been demonstrated in the common cuttlefish, a cephalopod mollusc. To explore if this ability is common to all cephalopods or if it has emerged to face specific ecological constraints, we conducted an episodic-like memory task with seven Octopus vulgaris. Only one individual learnt the replenishing rates during the training and subsequently showed episodic-like memory abilities, whereas the other individuals favoured simpler foraging strategies, such as avoidance of familiarity and alternation, use of win-stay strategy and risk-sensitivity. A high variability in the use of these strategies was observed between and within individuals throughout the training. Since octopuses seem to live under lighter environmental pressure than cuttlefish, they may not need to rely on episodic-like memory abilities to optimize foraging as cuttlefish do. These results highlight the differences in the use of complex cognitive abilities between cuttlefish and octopuses, which might be linked with different environmental and predatory constraints

Looking for immediate early genes as neuronal activation markers in the cephalopod mollusc Sepia officinalis

International audienc

Future planning abilities in the common cuttlefish

International audienceRecently, the cognitive abilities of Sepia officinalis, in particular its memory, have been the subject of several studies. As memory is thought to be intrinsically directed toward the future, cuttlefish may possess the ability of foresight. However, some claims that animals cannot anticipate their future needs as they cannot escape their present state. To challenge this hypothesis, we conducted an experiment on 13 captive – reared juvenile and 18 wild – caught adult cuttlefish. Each cuttlefish was tested in a Y – maze, where they were fed until satiety. Afterwards they were proposed a choice between two arms: one with a shelter, but without any prey, and the other without a shelter but with a prey. They were confined inside the chosen arm overnight. The following day, after being fed until satiety, the same choice test was undertaken. If cuttlefish were bound to their current needs, they should choose the shelter on the two tests. However, if they anticipated their future needs (hunger during the following night) irrespective of their current needs (hiding), they should prefer the arm with the food the second day. All cuttlefish but two went to the shelter the first day, a choice consistent with their current state of motivation. The second day, whereas juvenile cuttlefish and control adults still chose the shelter, half of the adult cuttlefish preferred the arm with the food. Although the number of adults was too low to reach statistical significance, these results provide the first indication of an ability of adult cuttlefish to anticipate their future

Looking for immediate early genes as neuronal activation markers in the cephalopod mollusc Sepia officinalis

International audienc

Data FM Cuttlefish

15 subadult cuttlefish were tested in a false memory experiment, in four different conditions (visual test V, olfactory & visual test OV, reinforcer control R, neutral control N). Three different tubes with random patterns were used, presented in a random order and position.</p