Evaluation of serum CEA, CYFRA21-1 and CA125 for the early detection of colorectal cancer using longitudinal preclinical samples

Blood-borne biomarkers for early detection of colorectal cancer (CRC) could markedly increase screening uptake. The aim of this study was to evaluate serum carcinoembryonic antigen (CEA), CYFRA21-1 and CA125 for the early detection of CRC in an asymptomatic cohort

Les bénéfices des vêtements de compression : dans une pratique sportive

Point sur l'impact réel des vêtements de compression sur la performance et la récupération, à la lumière des données scientifiques disponibles en 2014, de manière à évaluer la pertinence de l'utilisation de ces vêtements dans une situation donnée

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects.

IntroductionIntellectual disability (ID) is characterized by impairmentsof general mental abilities that have an impact on adaptive func-tioning in conceptual, social and practical areas, and which beginin the developmental period [1]. It affects 1–3% of the generalpopulation [2]. Chromosomal aberrations or mutations in almost500 genes have been associated with ID. Among these genes,several are also involved in diseases with phenotypes that mayoverlap with ID, such as autism spectrum disorders (ASD) andschizophrenia.Molecular defects of the hepatocyte nuclear factor 1B(HNF1B) have been associated with a syndrome thatincludes maturity-onset diabetes of the young 5 (MODY5 orHNF1B–MODY), kidney structural abnormalities, progressiverenal failure, pancreatic hypoplasia and exocrine dysfunction,abnormal liver tests and genital tract abnormalities [3]. In halfthe cases, the HNF1B-related syndrome is due to HNF1B het-erozygous mutations whereas, in the others, it is associated withHNF1B whole-gene deletion [3]. In all cases examined thus far,the latter results from a 17q12 deletion of 1.4–2.1 Mb, encom-passing 20 genes including HNF1B [3–6].Autism and/or ID have been described in patients with vari-ous HNF1B -related phenotypes, such as HNF1B–MODY [7],cystic kidney disease [4,8,9] and müllerian aplasia [10], alwaysin the context of 17q12 deletion. On the other hand, in a largepopulation study, the 17q12 deletion was recognized as a strongrisk factor for ID, ASD and schizophrenia, being identified in1/1000 of children referred for those conditions [11].Whether the neurocognitive phenotypes associated with the17q12 deletion result from deletion of HNF1B itself or anotherdeleted gene, or from a contiguous gene syndrome, remainsunknown [4,8,11].To investigate the role of HNF1B abnormalities in the occur-rence of cognitive defects, the frequency of ID was assessedaccording to the presence of HNF1B mutations or deletion in alarge cohort of adult patients with HNF1B–MODY

Invitation sérieuse aux habitants des Illinois /

"It is not improbably the work of Philippe François de Rastel, Chevalier de Rocheblave, the last British commandant of the Illinois"--Evans, Charles. American bibliography. Vol. 4, p. 320."The names of Daniel Bloüin and William Clazon come to the mind, and one or both may have been the author"--P. xxv.Cover title: Invitation aux habitants des Illinois.Ed. of 100 copies.Originally published: Philadelphie : [s.n.], 1772. 15 p.Mode of access: Internet

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects

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