L'Athlète : journal hebdomadaire de tous les sports

21 décembre 19381938/12/21 (N1128)-1938/12/21.Appartient à l’ensemble documentaire : Aquit

Migranti e religione: proposte per nuove piste d'indagine

Quello delle migrazioni \ue8 un tema che in Italia, cos\uec come in molti altri paesi, affatica studiosi e politici da almeno due secoli. Tuttavia, una riflessione su questi temiscevra da pre-concetti di carattere ideologico necessita di fondarsi su dati che quantomeno indichino la reale dimensione del fenomeno. Nel contesto cos\uec delineato il contributo mostra come la dinamica religiosa non solo accompagni, ma condizioni l'esperienza migratoria in ogni sua fase, e pertanto deve essere indagata unitamente alle traiettorie e ed alle esperienze dei migranti

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

Abstract Background Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated. Methods Given the tight relationship with BWS, we hypothesized that the isolated form of the omphalocele could belong to the heterogeneous spectrum of the BWS associated features, representing an endophenotype with a clear genetic connection. We therefore investigated genetic and epigenetic changes affecting BWS imprinted locus at 11p15.5 imprinted region, focusing in particular on the KCNQ1OT1:TSS DMR. Results We studied 21 cases of isolated omphalocele detected during pregnancy or at birth and identified the following rare maternally inherited variants: i) the non-coding variant G > A at nucleotide 687 (NR_002728.3) at KCNQ1OT1:TSS-DMR, which alters the methylation pattern of the imprinted allele, in one patient; ii) the deletion c.624-629delGGCCCC at exon 1 of CDKN1C, with unknown clinical significance, in two unrelated cases. Conclusions Taken together, these findings suggest that KCNQ1OT1:TSS-DMR could be a susceptibility locus for the isolated omphalocele

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

<div><p>Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we used pyrosequencing to test the methylation level of a number of differentially methylated regions (DMRs) at several imprinted loci (ICR1, ICR2, <i>H19,</i> PWS/AS-ICR, <i>GNASXL, GNAS1A, ZAC/PLAGL1,</i> and <i>MEST)</i> and at non-imprinted <i>MGMT</i> and <i>RASSF1A</i> promoters. We analyzed these regions in 19 healthy pregnancies and highlighted stable methylation levels between CVF and CVC at ICR1, ICR2, <i>GNASXL</i>, PWS/AS-ICR, and <i>MEST</i>. Conversely, the methylation levels at <i>H19</i> promoter, <i>GNAS1A and ZAC/PLAGL1</i> were different in CVC compared to fresh CV. We also investigated ICR1 and ICR2 methylation level of CVF/CVC of 2 BWS-suspected fetuses (P1 and P2). P1 showed ICR2 hypomethylation, P2 showed normal methylation at both ICR1 and ICR2. Our findings, although limited to one case of BWS fetus with an imprinting defect, can suggest that ICR1 and ICR2, but not <i>H19</i>, could be reliable targets for prenatal BWS diagnosis by methylation test in CVF and CVC. In addition, PWS/AS-ICR, <i>GNASXL,</i> and <i>MEST</i>, but not <i>GNAS1A and ZAC/PLAGL1,</i> are steadily hemimethylated in CV from healthy pregnancies, independently from culture. Thus, prenatal investigation of genomic imprinting in CV needs to be validated in a locus-specific manner.</p></div

Additional file 1: Table S1. of Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry

Amplification and extension primer sequences for MS panel. (DOCX 16 kb

Additional file 1: of Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

Clinical data of pregnancies and exposition to known environmental risk factors. (XLS 23 kb