Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.

Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, but serum calcium was severely low, with abnormally high parathyroid hormone. Thus, pseudohypoparathyroidism was suspected and confirmed by molecular genetic testing. Calcium and calcitriol supplementation led to calcium normalization and neurological symptom improvement. Given the absence of personal or family diabetes history, the HNF4A variant was reassessed and found to encode an alternative transcript with poor expression and activity levels, hence downgraded on expert advice from 'likely pathogenic' to 'likely benign'. Besides illustrating the importance of structured medical workup before launching extensive targeted exome sequencing, this case highlights the need for caution in incidental finding interpretation in patients lacking compatible phenotype or family history, and the value of expert advice in such variant interpretation.

[Clinical situations in detention settings]. / Situations cliniques en milieu ­pénitentiaire.

Infectious diseases, substance use disorders, and psychiatric conditions are more prevalent in prisons than in the general population. There is relatively limited evidence regarding the medical management of non communicable diseases in prison settings. The clinical cases described in this article highlight specific dimensions to be considered when practicing medicine in detention settings : multidisciplinary work ; regular voluntary screening for infectious diseases that are prevalent in this population ; management of non communicable diseases ; availability of medical protocols for specific clinical situations (for example, body-packing) ; or proactive screening for mental health disorders.

La prévalence des maladies infectieuses, des troubles de la dépendance et des pathologies psychiatriques est plus importante en prison que dans la population générale. Il existe encore peu d'évidences quant à la prise en charge optimale des maladies non transmissibles dans ces contextes. Les vignettes cliniques discutées dans cet article mettent en lumière certaines dimensions liées à l'exercice de la médecine en milieu carcéral : travailler en interdisciplinarité ; proposer le dépistage régulier de certaines maladies infectieuses fréquentes dans cette population ; être d­avantage attentif à la prise en charge des maladies non transmissibles ; élaborer des directives propres à des situations particulières (telles que la dissimulation intracorporelle de substances illicites) ou dépister de manière proactive les troubles de la ­santé mentale.

Case Report: Don't chew the fufu: a case report of suspected drug body stuffing.

Background: Intrabody concealment of illicit substances is a common practice in the trafficking chain. Bodystuffing, which consists of precipitously swallowing packets of substances for concealment from law-enforcement officers in anticipation of impending search or arrest, is particularly dangerous. There is a risk of rupture of the loosely wrapped drug packets, which could lead to substance intoxication or even death. Case presentation:  This article reports the case of a young man who was taken by law enforcement authorities to our Emergency Department for investigation of bodystuffing. Although the patient denied the facts, the initial reading of the computed tomography (CT) scan confirmed the presence of multiple images compatible with drug packets, which were mostly in the stomach. Upon admission to our secured inpatient ward for clinical surveillance of packet evacuation, the patient denied again having ingested such packets, and declared that he only ate 'fufu'. Fufu is a traditional food of central and western Africa consisting of a starchy preparation compacted by hand into small balls. Fufu balls are usually swallowed without chewing to allow a sensation of stomach fullness throughout the day. Considering the fufu intake history, a careful reassessment of the imaging confirmed the presence of food content. Conclusions: This case study offers an example of bodystuffing false positive due to fufu. It illustrates the importance of a history of food intake that could bias the interpretation of CT scan images.

[Management and orientation of severely infected patients : relevance of a « Sepsis Fast-Track ¼]. / Trajectoire de prise en charge des patients avec infections sévères : intérêt de l'implémentation d'une filière sepsis.

Sepsis is a syndrome defined by a life-threatening organ dysfunction caused by a dysregulated host response to an infection. The early recognition of this syndrome in the emergency department (ED) can lead to a better prognosis, when associated with a standardized management focusing on identification of the infectious source, its treatment, and appropriate organ support. Therefore, the implementation of a « Sepsis Fast Track ¼, by analogy with similar protocols regarding stroke or ST-elevated myocardial infarct, deserves interest. The aim of this article is to review the available evidences that support an implementation of such an initiative, and to identify the key elements that permit its integration in the ED setting of a secondary-care hospital.

Le sepsis est un syndrome associant une infection à une dysfonction organique significative et est grevé d'une mortalité élevée. Une identification précoce aux urgences, associée à une prise en charge systématisée, centrée sur l'identification et le contrôle de la source infectieuse et sur le soutien des organes, peut permettre d'améliorer le pronostic. Dans ce contexte, la mise en place d'une « filière sepsis ¼ par analogie aux filières STEMI ou AVC pourrait s'avérer intéressante. Cet article discute les évidences disponibles pour soutenir une telle initiative, en identifiant les éléments-clés nécessaires à une telle mise en place dans un service d'urgence et son intégration dans le fonctionnement d'un hôpital périphérique.