Functional implications of the intertarsal joint shape in a terrestrial ( Coturnix coturnix ) versus a semi-aquatic bird ( Callonetta leucophrys )

International audienceAs birds have a diversity of locomotor behaviors, their skeleton is subjected to a variety of mechanical constraints (gravitational, aerodynamic and sometimes hydrodynamic forces). Yet, only minor modifications in post-cranial skeleton shape are observed across the diversity of avian species in comparison with other vertebrates. The goal of this study was to explore potential morphological adjustments that allow locomotion in different habitats in Anatidae. Specifically, we compared a strictly terrestrial bird, the common quail Coturnix coturnix, and a semi-aquatic bird, the ringed teal Callonetta leucophrys, to explore whether their anatomy reflects the constraints of locomotion in different habitats (water vs. land). We compared the tibiotarsus and the tarsometatarsus shape between the two species using a geometric morphometric approach. Our data illustrate distinct differences between species with a more medially oriented intertarsal joint in the ringed teal than in the common quail, which may be linked to the kinematics of walking and paddling. This study lays the foundations to understand the functional requirements for moving in both terrestrial and aquatic environments in Anatidae, and suggests morphological characteristics of the bird hindlimb skeleton that may help to predict the motions it is capable of

DDT is still a problem in developed countries: the heavy pollution of Lake Maggiore

Abstract The Zebra mussel (Dreissena polymorpha), one of the most widely used bioindicators of persistent organic pollutants, trace metals and radionuclides in several worldwide freshwater ecosystems, has been used to monitor DDT contamination trends in Lake Maggiore since 1996, caused by industrial effluents on a tributary of the River Toce, one of the major affluents of the lake. Dreissena specimens were collected at two sampling sites, one within the Baveno Bay, where the River Toce flows, and the other outside (Villa Taranto). Total DDT levels (3119.6 ng/g lipids at Baveno and 1351.2 ng/g lipids at Villa Taranto) in the soft tissues of the Zebra mussel decreased at both stations by about 30-50% in the first year after the closure of the chemical plant reaching an almost steady-state condition. The high concentrations measured in Zebra mussel specimens of Baveno Bay in 2000 (1947 ng/g lipids) and the percentage of pp 0 DDE in comparison with total DDT concentration, which showed a slight increase in the last years, clearly indicate that a contamination source is still present, deriving probably from the lacustrine sediments and the River Toce. Data show that the environmental risk is very high within the Baveno Bay and the recovery time should be longer than in the other parts of the lake, where DDT levels in Dreissena are presently two times higher than those measured in the other Italian subalpine lakes

Violent and Complex Behaviors and Non-Restorative Sleep Are the Main Features of Disorders of Arousal in Adulthood: Real Picture or a More Severe Phenotype?

Disorders of arousal (DoA) are NREM parasomnias characterized by motor and emotional behaviors emerging from incomplete arousals from deep sleep. DoA are largely present in pediatric populations, a period during which they are labeled as self-limited manifestations. However, an extensive literature has shown that DoA can persist in adulthood, with different characteristics from childhood DoA. Adult DoA patients usually report excessive daily sleepiness, sleep-related violence during DoA episodes or potentially harmful behaviors, which are rare in childhood. The semeiological features of DoA episodes in adulthood may complicate differential diagnoses with other motor manifestations during sleep, in particular sleep-related hypermotor epilepsy. However, it cannot be excluded that adults with DoA attending sleep centers constitute a more severe phenotype, thus not being representative of adult DoA in the general population. Video-polysomnographic studies of DoA document a spectrum of motor patterns of different complexities, the simplest of which may often go unnoticed. Despite the different complexities of the episodes, neurophysiologic studies showed the co-existence of deep sleep and wakefulness during DoA episodes or even before their onset. These aspects make DoA an ideal model to investigate the mechanisms regulating local sleep, sleep arousal and cognitive functions including spatial and temporal orientation, attention or memory

Sleep and epilepsy: A snapshot of knowledge and future research lines

Sleep and epilepsy have a reciprocal relationship, and have been recognized as bedfellows since antiquity. However, research on this topic has made a big step forward only in recent years. In this narrative review we summarize the most stimulating discoveries and insights reached by the “European school.” In particular, different aspects concerning the sleep–epilepsy interactions are analysed: (a) the effects of sleep on epilepsy; (b) the effects of epilepsy on sleep structure; (c) the relationship between epilepsy, sleep and epileptogenesis; (d) the impact of epileptic activity during sleep on cognition; (e) the relationship between epilepsy and the circadian rhythm; (f) the history and features of sleep hypermotor epilepsy and its differential diagnosis; (g) the relationship between epilepsy and sleep disorders

Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment.

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by a combination of autonomic failure plus cerebellar syndrome and/or parkinsonism. Dysphagia is a frequent and disabling symptom in MSA and its occurrence within 5 years of motor onset is an additional diagnostic feature. Dysphagia can lead to aspiration pneumonia, a recognized cause of death in MSA. Guidelines for diagnosis and management of dysphagia in MSA are lacking. An International Consensus Conference among experts with methodological support was convened in Bologna to reach consensus statements for the diagnosis, prognosis, and treatment of dysphagia in MSA. Abnormalities of the oral and pharyngeal phases of swallowing, esophageal dysfunction and aspiration occur in MSA and worsen as the disease progresses. According to the consensus, dysphagia should be investigated through available screening questionnaires and clinical and instrumental assessment (videofluoroscopic study or fiberoptic endoscopic evaluation of swallowing and manometry) at the time of MSA diagnosis and periodically thereafter. There is evidence that dysphagia is associated with poor survival in MSA, however effective treatments for dysphagia are lacking. Compensatory strategies like diet modification, swallowing maneuvers and head postures should be applied and botulinum toxin injection may be effective in specific conditions. Percutaneous endoscopic gastrostomy may be performed when there is a severe risk of malnutrition and pulmonary complications, but its impact on survival is undetermined. Several research gaps and unmet needs for research involving diagnosis, prognosis, and treatment were identified

Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by a combination of autonomic failure plus cerebellar syndrome and/or parkinsonism. Dysphagia is a frequent and disabling symptom in MSA and its occurrence within 5 years of motor onset is an additional diagnostic feature. Dysphagia can lead to aspiration pneumonia, a recognized cause of death in MSA. Guidelines for diagnosis and management of dysphagia in MSA are lacking. An International Consensus Conference among experts with methodological support was convened in Bologna to reach consensus statements for the diagnosis, prognosis, and treatment of dysphagia in MSA. Abnormalities of the oral and pharyngeal phases of swallowing, esophageal dysfunction and aspiration occur in MSA and worsen as the disease progresses. According to the consensus, dysphagia should be investigated through available screening questionnaires and clinical and instrumental assessment (videofluoroscopic study or fiberoptic endoscopic evaluation of swallowing and manometry) at the time of MSA diagnosis and periodically thereafter. There is evidence that dysphagia is associated with poor survival in MSA, however effective treatments for dysphagia are lacking. Compensatory strategies like diet modification, swallowing maneuvers and head postures should be applied and botulinum toxin injection may be effective in specific conditions. Percutaneous endoscopic gastrostomy may be performed when there is a severe risk of malnutrition and pulmonary complications, but its impact on survival is undetermined. Several research gaps and unmet needs for research involving diagnosis, prognosis, and treatment were identified

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Objective: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). Methods: We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed \u201cqualifying\u201d variants (ultrarare and predicted to be deleterious or loss of function) across the examined genes and sought to identify their enrichment in cases compared to controls. Results: We found eight qualifying variants in cases and nine in controls, demonstrating enrichment in FE patients (P = 0.006; exact unconditional test, one-tailed). Pathogenic variants were identified in DEPDC5 and TSC2, both major genes for Mendelian FE syndromes. Interpretation: Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies. The identification of a monogenic etiology in isolated cases, most typically encountered in clinical practice, may offer to a broader community of patients the perspective of precision therapies directed by the underlying genetic cause