The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network.

CONTEXT: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases. OBJECTIVES: The aim of this study was to characterize, for the first time, the experience and needs of patients and/or their parents around the announcement of diagnosis to ensure optimal quality of care. METHODS: A quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 by the ad hoc FIRENDO thematic working group in collaboration with its 11 partnering patient associations and support groups. The questionnaire was designed and revised by patient support group representatives, adult and pediatric endocrinologists, psychologists and biologists, all expert in rare endocrine diseases. It was made available on the FIRENDO network website and distributed mainly by email with electronic links on their respective websites to members of all affiliated patient support groups. RESULTS: Questionnaires were filled out by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were associated with at least 30 answers: Addison's disease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silver syndrome, Cushing's syndrome, acromegaly and craniopharyngioma. Overall, some announcement modalities were judged favorably by patients: physician's empathy, availability and use of clear terms, and presence of family at the time of announcement. However, a lack of psychological care and information documents was reported, as well as some inadequate procedures such as postal mail announcements. CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.

The Early Aurignacian human remains from La Quina-Aval (France).

There is a dearth of diagnostic human remains securely associated with the Early Aurignacian of western Europe, despite the presence of similarly aged early modern human remains from further east. One small and fragmentary sample of such remains consists of the two partial immature mandibles plus teeth from the Early Aurignacian of La Quina-Aval, Charente, France. The La Quina-Aval 4 mandible exhibits a prominent anterior symphyseal tuber symphyseos on a vertical symphysis and a narrow anterior dental arcade, both features of early modern humans. The dental remains from La Quina-Aval 1 to 4 (a dm(1), 2 dm(2), a P(4) and a P(4)) are unexceptional in size and present occlusal configurations that combine early modern human features with a few retained ancestral ones. Securely dated to ~33 ka (14)C BP (~38 ka cal BP), these remains serve to confirm the association of early modern humans with the Early Aurignacian in western Europe.

Cutmarked human remains bearing Neandertal features and modern human remains associated with the Aurignacian at Les Rois.

The view that Aurignacian technologies and their associated symbolic manifestations represent the archaeologicalproxy for the spread of Anatomically Modern Humans into Europe, is supported by few diagnostic human remains, including those from the Aurignacian site of Les Rois in south-western France. Here we reassess the taxonomic attribution of the human remains, their cultural affiliation, and provide five new radiocarbon dates for the site. Patterns of tooth growth along with the morphological and morphometric analysis of the human remains indicate that a juvenile mandible showing cutmarks presents some Neandertal features, whereas another mandible is attributed to Anatomically Modern Humans. Reappraisal of the archaeological sequence demonstrates that human remains derive from two layers dated to 28-30 kyr BP attributed to the Aurignacian, the only cultural tradition detected at the site. Three possible explanations may account for this unexpected evidence. The first one is that the Aurignacian was exclusively produced by AMH and that the child mandible from unit A2 represents evidence for consumption or, more likely, symbolic use of a Neandertal child by Aurignacian AMH The second possible explanation is that Aurignacian technologies were produced at Les Rois by human groups bearing both AMH and Neandertal features. Human remains from Les Rois would be in this case the first evidence of a biological contact between the two human groups. The third possibility is that all human remains from Les Rois represent an AMH population with conserved plesiomorphic characters suggesting a larger variation in modern humans from the Upper Palaeolithic.