Foramen tympanicum: tomographic study of a large cohort of Europeans.

Purpose: The foramen tympanicum (FT) is an anatomical variation of the tympanic part of the temporal bone located in the anteroinferior part of the external auditory pore (EAP) and posteromedial to the temporomandibular joint (TMJ). The FT is most often asymptomatic, but it can be symptomatic in rare cases. The prevalence of FT varies widely in the literature.

Use of gynaecological care by young women in Togo: focus on students and analysis of the determinants at the University of Lomé.

Objectives: The study aims to gain a better understanding of the needs and health behaviours of young women at the University of Lomé (Togo) with regard to gynaecological care.

Study Design: The data comes from a self-administered online survey.

Methods: A logistic regression was applied to model the likelihood of non-use of gynaecological care.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).

Correction for Extrinsic Background in Raman Hyperspectral Images.

Raman hyperspectral microscopy is a valuable tool in biological and biomedical imaging. Because Raman scattering is often weak in comparison to other phenomena, prevalent spectral fluctuations and contaminations have brought advancements in analytical and chemometric methods for Raman spectra. These chemometric advances have been key contributors to the applicability of Raman imaging to biological systems.

[Cannabidiol (CBD): Analytical and toxicological aspects].

Cannabidiol (CBD) is a phytocannabinoid present in cannabis, obtained either by extraction from the plant or by synthesis. The latter has the advantage of being pure and contains few impurities, unlike CBD of plant origin. It is used by inhalation, ingestion or skin application.

Cannabis in Adolescence: Lasting Cognitive Alterations and Underlying Mechanisms.

Cannabis consumption during adolescence is an area of particular concern, owing to changes in the social and political perception of the drug, and presents a scientific, medical, and economic challenge. Major social and economic interests continue to push toward cannabis legalization as well as pharmaceutical development. As a result, shifting perceptions of both legal and illicit cannabis use across the population have changed the collective evaluation of the potential dangers of the product.

Access to social services for undiagnosed rare disease patients in France: A pilot study.

Although the challenge of access to care for undiagnosed rare disease patients is well documented in the literature, little is known about lack of diagnosis preventing access to social services. Yet this has serious consequences for patients and their families because disability associated with rare disease requires frequent and costly multi-disciplinary support. The aim of this research is to explore, in the French context, access to social assistance for rare disease patients.

Testing for Trenbolone, an Anabolic Steroid, in Biological Fluids and Head Hair in a Post-Mortem Case.

A 60-year-old man was found dead at home by his wife. The man was known to be a regular trainer in a fitness center and was described as a long-term user of anabolic steroids. The autopsy revealed heart failure with a cardiomegaly, a visceral congestion and a pulmonary edema.

Computational Model Reveals a Stochastic Mechanism behind Germinal Center Clonal Bursts.

Germinal centers (GCs) are specialized compartments within the secondary lymphoid organs where B cells proliferate, differentiate, and mutate their antibody genes in response to the presence of foreign antigens. Through the GC lifespan, interclonal competition between B cells leads to increased affinity of the B cell receptors for antigens accompanied by a loss of clonal diversity, although the mechanisms underlying clonal dynamics are not completely understood. We present here a multi-scale quantitative model of the GC reaction that integrates an intracellular component, accounting for the genetic events that shape B cell differentiation, and an extracellular stochastic component, which accounts for the random cellular interactions within the GC.

Non accidental repeated lithium poisoning in a child: The role of hair analysis.

Non accidental intoxication due to child abuse is rare and its frequency is likely underestimated because it is difficult to diagnose. Here, we report a case of voluntary repeated exposure to lithium in an infant, for whom the clinical manifestations were convulsions. Toxicological analysis was very helpful for documenting lithium exposure during the assumed period of time.

[Focus on the endocannabinoid system and the reprotoxicity of marijuana in female users].

Among recreative compounds, marijuana is the most used worldwide. Delta9THC binding on brain endocannabinoid receptors drives its psychotropic effects. The endocannabinoid system (ECS) is an endogenous neurohormonal system essential for homeostasis composed of ligands, metabolic enzymes and at least 2 receptors discovered to date.

Socio-economics status and metabolic syndrome: A meta-analysis.

Objective: The metabolic syndrome (MetS) is responsible for an increased risk of type 2 diabetes, cardiovascular diseases and is associated with all-cause and cardiovascular mortality. Economic and social vulnerability is not an easy concept to grasp, but some studies investigate the association between MetS and socioeconomic and demographic factors, deprivation (more often correlations rather than causal one due to data). This work aims to assess the association between MetS and socio-economic gradient (SEG) in the literature by performing a meta-analysis.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluate their implications in care organisation, we retrospectively evaluated, in a cohort of 700 consecutive probands, the frequency and burden of introducing the search for variants in a maximum list of 244 medically actionable genes (genes that predispose carriers to a preventable or treatable disease in childhood/adulthood and genes for genetic counselling issues).

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these.

Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases.

The information to which whole genome sequencing (WGS) provides access raises questions about its disclosure to patients. The literature focused on the nature of findings, shows patients share the same expectations while evoking possible heterogeneity. Our objective is to test this hypothesis of preference heterogeneity with respect to the disclosure of results from WGS by means of a discrete choice experiment (DCE).

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate.

[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].

Introduction: The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses.

Methods: Geneticists attending a clinical genetics seminar were invited to complete a questionnaire.