Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition.

Methods: Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Introduction: In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to travel long distances. In certain situations, genetic counselling in particular, a physical exam is not required.

"Home alone!" influence of nest parental attendance on offspring behavioral and hormonal stress responses in an Antarctic seabird, the snow petrel (Pagodroma nivea).

In altricial species, parents brood their chicks constantly before leaving them unattended sometimes for extended periods when they become thermally independent. During this second phase, there is sometimes important inter-individual differences in parental attendance and the fitness costs and benefits of parental strategies have previously been extensively investigated. However, the impact of parental presence on offspring behaviors and stress physiology has been overlooked.

Does urbanization cause stress in wild birds during development? Insights from feather corticosterone levels in juvenile house sparrows ().

Urban landscapes are associated with abiotic and biotic environmental changes that may result in potential stressors for wild vertebrates. Urban exploiters have physiological, morphological, and behavioral adaptations to live in cities. However, there is increasing evidence that urban exploiters themselves can suffer from urban conditions, especially during specific life-history stages.

The behavioural and physiological stress responses are linked to plumage coloration in the rock pigeon (Columbia livia).

In wild vertebrates, conspicuousness often signals a high phenotypic quality and is therefore associated with fitness benefits ("the handicap principle hypothesis"). However, conspicuous individuals usually face a higher risk of predation because they are easier to detect. Therefore, conspicuous individuals are expected to modify their behavioural and their physiological stress responses to limit the negative effect of their conspicuousness on survival.

Does the stress response predict the ability of wild birds to adjust to short-term captivity? A study of the rock pigeon ().

Although the transfer of wild animals to captivity is crucial for conservation purposes, this process is often challenging because some species or individuals do not adjust well to captive conditions. Chronic stress has been identified as a major concern for animals held on long-term captivity. Surprisingly, the first hours or days of captivity have been relatively overlooked.

Non-steroidal Anti-inflammatory Drugs may Worsen the Course of Community-Acquired Pneumonia: A Cohort Study.

Purpose: Non-steroidal anti-inflammatory drugs (NSAIDs) are frequently prescribed or used as self-medication in cases of community-acquired pneumonia (CAP). Nevertheless, the consequences of such medication on the risk of pleuroparenchymal complications are not well known. The aim was to investigate whether exposure to NSAIDs prior to hospital admission among patients suffering from CAP is associated with the development of pleural complications or a lung abscess.

Epidemiology and reporting of candidaemia in Belgium: a multi-centre study.

The primary aim of this study was to collect national epidemiological data on candidaemia and to determine the reporting time of species identification and antifungal susceptibility in clinical practice. During a 1-year period (March 2013 until February 2014), every first Candida isolate from each episode of candidaemia was included prospectively from 30 Belgian hospitals. Identification and susceptibility testing were performed according to local procedures and isolates were sent to the National Reference Center for Mycosis.

Water deprivation increases maternal corticosterone levels and enhances offspring growth in the snake Vipera aspis.

Circulating glucocorticoid (GC) levels may increase as a result of reproductive effort or in response to unpredictable events. However, GC secretion can vary with the availability of vital trophic resources such as energy. While water represents another critical resource, the impact of water deprivation on GC secretion during reproduction has not yet been thoroughly investigated.

No evidence for an effect of traffic noise on the development of the corticosterone stress response in an urban exploiter.

Anthropogenic noise can have important physiological and behavioral effects on wild animals. For example, urban noise could lead to a state of chronic stress and could alter the development of the hypothalamus-pituitary-adrenal (HPA) axis. Supporting this hypothesis, several studies have found that human disturbance is associated with increased circulating corticosterone (CORT) levels.

Housing conditions and sacrifice protocol affect neural activity and vocal behavior in a songbird species, the zebra finch (Taeniopygia guttata).

Individual cages represent a widely used housing condition in laboratories. This isolation represents an impoverished physical and social environment in gregarious animals. It prevents animals from socializing, even when auditory and visual contact is maintained.

Tuberculosis screening at the Sainte-Anne Hospital in Paris - results of first and second IGRA.

Introduction: Healthcare workers (HCWs) are exposed to Mycobacterium tuberculosis (MTB) and therefore are screened for tuberculosis (TB). Results of TB screenings with the Interferon-γ Release Assay (IGRA) in a French psychiatric hospital without a TB ward are described.

Methods: At the Sainte-Anne Hospital, a referral centre for psychiatric patients throughout the municipal region of Paris, IGRA screening is performed during pre-employment and general health examination or after potential contact to MTB.

Physiological and fitness correlates of experimentally altered hatching asynchrony magnitude in chicks of a wild seabird.

Nest-bound chicks depend entirely on their parents for food, often leading to high sibling competition. Asynchronous hatching, resulting from the onset of incubation before clutch completion, facilitates the establishment of within-nest hierarchy, with younger chicks being subject to lower feeding and growth rates. Because social and nutritional stresses affect baseline stress hormone levels in birds, younger chicks are expected to have higher levels of corticosterone than their siblings.

Comparison of two immunoassays for measurement of faecal calprotectin in detection of inflammatory bowel disease: (pre)-analytical and diagnostic performance characteristics.

Background: Symptoms of inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) can overlap. Faecal calprotectin has recently been established to be a non-invasive marker for neutrophilic intestinal inflammation. We compared two devices for extraction of faecal calprotectin.

Modulation of the prolactin and the corticosterone stress responses: do they tell the same story in a long-lived bird, the Cape petrel?

Over the last decades, the corticosterone stress response has been suggested as a major physiological tool to understand what strategy an individual might adopt in response to environmental perturbations. More recently, another hormone related to parental care--prolactin--has been suggested as a complementary tool to investigate this question. Indeed, both of these hormones are affected by stressors and are involved in parental decisions, such as deserting the nest.

Corticosterone levels in host and parasite nestlings: is brood parasitism a hormonal stressor?

Parasite chicks from non-evictor species usually try to monopolize host parental care, thereby increasing considerably the level of food competition in the nest. Here, we propose that brood parasitism is an important stressor for host and parasite nestlings and explore this hypothesis in the non-evictor great spotted cuckoo (Clamator glandarius) and its main hosts, the same-sized black-billed magpie (Pica pica) and the larger carrion crow (Corvus corone). We experimentally created 3-nestling broods of different brood compositions (only cuckoo chicks, only host chicks, or cuckoo and host chicks together) and measured baseline corticosterone levels of nestlings along their developmental period (early, middle and late).

Relationships between POPs and baseline corticosterone levels in black-legged kittiwakes (Rissa tridactyla) across their breeding cycle.

Chronic exposure to persistent organic pollutants (POPs) in wildlife might alter the response to environmental changes through interference with the regulation of stress hormones. Here, we examined the relationship between blood concentrations of several POPs and baseline plasma corticosterone levels in the black-legged kittiwake (Rissa tridactyla) during three distinct periods in the breeding season. The concentrations of POPs and corticosterone increased, whereas body mass decreased progressively from the pre-laying period to the incubation and the chick rearing period.

Measuring corticosterone in seabird egg yolk and the presence of high yolk gestagen concentrations.

Large inter-species differences have been found in yolk corticosterone amounts in avian eggs. While some studies have failed to detect significant amounts of corticosterone, in other species high amounts have been recorded, such as in a recent study of southern rockhopper penguins Eudyptes chrysocome chrysocome. However, attention has been drawn recently to the fact that many antibodies for corticosterone measurement cross-react with other steroids present in the yolk.

Stress and the timing of breeding: glucocorticoid-luteinizing hormones relationships in an arctic seabird.

In birds, stressful environmental conditions delay the timing of breeding but the underlying mechanisms are poorly understood. The stress hormone corticosterone appears to be a good candidate for mediating the decision to breed and when to start egg-laying, via a possible inhibition of luteinizing hormone (LH) and sex-steroids production. We used luteinizing hormone releasing hormone (LHRH) challenge in pre-laying male and female Black-legged kittiwakes (Rissa tridactyla) to test whether LH and testosterone secretion were depressed by elevated corticosterone levels.

Patterns of aging in the long-lived wandering albatross.

How does an animal age in natural conditions? Given the multifaceted nature of senescence, identifying the effects of age on physiology and behavior remains challenging. We investigated the effects of age on a broad array of phenotypic traits in a wild, long-lived animal, the wandering albatross. We studied foraging behavior using satellite tracking and activity loggers in males and females (age 6-48+ years), and monitored reproductive performance and nine markers of baseline physiology known to reflect senescence in vertebrates (humoral immunity, oxidative stress, antioxidant defenses, and hormone levels).

Does testosterone influence activity budget in the male Greek tortoise (Testudo graeca graeca)?

The stimulatory effect of testosterone on male sexual activity is one of the clearest examples linking hormones and behaviors. However, this relationship is complex in Chelonians. We experimentally studied the influence of testosterone levels on the activity budget and space use in male Greek tortoises (Testudo graeca graeca) during the spring mating season.

Maternal deposition of yolk corticosterone in clutches of southern rockhopper penguins (Eudyptes chrysocome chrysocome).

High corticosterone levels can have deleterious effects in developing avian embryos and chicks. Therefore, it may be adaptive for avian mothers to reduce corticosterone transfer to their eggs. However, until now, data about the active or/and passive role of mothers in corticosterone transfer to eggs are inconclusive.