La maladie du petit papier is the term given when patients relate their bodily complaints, with written lists. Sixteen patients with orofacial complaints attending with lists were studied. Eighty per cent were females and most had chronic oral discomfort. Many had several complaints and had sought multiple opinions. In none was evidence of an organic basis for their main complaint detectable, but this must always be thoroughly excluded.
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http://dx.doi.org/10.1038/sj.bdj.4808304 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Université Paris Cité, Inserm, NeuroDiderot, Paris, France.
Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.
View Article and Find Full Text PDFBackground: Hypereosinophilic syndromes (HES) are a heterogenous group of eosinophilic disorders. To date, only retrospective studies of limited sample-size and/or follow-up duration are available.
Methods: The COHESion study is a national prospective multicenter multidisciplinary cohort recruiting both adults or children with the spectrum of eosinophilic disorders (including reactive HE/HES [HE/HES-R], idiopathic HES [HES-I], lymphocytic HES [HES-L], neoplastic HE/HES [HE/HES-N], HE of unknown significance [HE-US], as well as IgG4-related disease [IgG4RD] or ANCA-negative eosinophilic granulomatosis with polyangiitis [EGPA] overlaps).
Am J Med Genet B Neuropsychiatr Genet
December 2024
Service de Médecine Génomique des maladies de système et d'organe, Hôpital Cochin, Assistance Publique, Centre Université de Paris Cité, Paris, France.
Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta-analysis of genome-wide association studies on AN identified independent risk-conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated. To investigate AN, we performed transcriptome profiling in peripheral blood mononuclear cells from 15 AN patients and 15 healthy controls.
View Article and Find Full Text PDFTransplant Direct
December 2024
Sorbonne Université, Inserm U1135, CNRS EMR 8255, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Paris, France.
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