Specifications of the ACMG/AMP variant curation guidelines for hereditary hemorrhagic telangiectasia genes - ENG and ACVRL1

13 p.-1 fig.-3 tab.The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With this goal, the ClinGen HHT variant curation expert panel was formed. Here, we describe our recommended HHT-specific variant classification criteria and the outcomes from pilot testing of 30 variants of the ENG and ACVRL1 genes. Eight of the original ACMG/AMP rules were determined to not be applicable for ENG- or ACVRL1-related HHT or were previously recommended by ClinGen for removal, two rules were unmodified, and the remaining 18 rules were modified according to HHT specifications or previous ClinGen general recommendations. This study demonstrates the importance of HHT-specific criteria in the optimization and standardization of HHT variant classification and conflicting classification resolution. © 2024 Desiree DeMille et al.The authors would like to acknowledge the support of the ClinGen Sequence Variant Interpretation Working Group and the Hemostasis/Thrombosis Clinical Domain Working Group, especially Kristy Lee. The authors would also like to acknowledge the participation of previous ClinGen HHT VCEP members: Pernille Tørring, Hans Kristian Ploos van Amstel, and Helen Arthur. CLS acknowledges support from the NIHR Imperial Biomedical Research Centre. LJ acknowledges support from Knut and Alice Wallenberg Foundation grant (2018.0042) and Swedish Research Council grant (2020-04936). CB was supported by Consejo Superior de Investigaciones Cientificas (CSIC) of Spain. CC, CO,and AS are funded by the Italian Ministry of University and Research, “Fondo Beneficenza Intesa Sanpaolo,” and Banca d’Italia. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI) with cofunding from the National Cancer Institute (NCI), through the following grants: Baylor/Stanford (U24HG009649), Broad/Geisinger(U24HG006834), and UNC/Kaiser (U24HG009650).Peer reviewe

It's all about the children: a participant-driven photo-elicitation study of Mexican-origin mothers' food choices

Abstract Background There is a desperate need to address diet-related chronic diseases in Mexican-origin women, particularly for those in border region colonias (Mexican settlements) and other new destination communities in rural and non-rural areas of the U.S. Understanding the food choices of mothers, who lead food and health activities in their families, provides one way to improve health outcomes in Mexican-origin women and their children. This study used a visual method, participant-driven photo-elicitation, and grounded theory in a contextual study of food choices from the perspectives of Mexican-origin mothers. Methods Teams of trained promotoras (female community health workers from the area) collected all data in Spanish. Ten Mexican-origin mothers living in colonias in Hidalgo County, TX completed a creative photography assignment and an in-depth interview using their photographs as visual prompts and examples. English transcripts were coded inductively by hand, and initial observations emphasized the salience of mothers' food practices in their routine care-giving. This was explored further by coding transcripts in the qualitative data analysis software Atlas.ti. Results An inductive conceptual framework was created to provide context for understanding mothers' daily practices and their food practices in particular. Three themes emerged from the data: 1) a mother's primary orientation was toward her children; 2) leveraging resources to provide the best for her children; and 3) a mother's daily food practices kept her children happy, healthy, and well-fed. Results offer insight into the intricate meanings embedded in Mexican-origin mothers' routine food choices. Conclusions This paper provides a new perspective for understanding food choice through the eyes of mothers living in the colonias of South Texas -- one that emphasizes the importance of children in their routine food practices and the resilience of the mothers themselves. Additional research is needed to better understand mothers' perspectives and food practices with larger samples of women and among other socioeconomic groups

Formulation tridimensionnelle par éléments finis d'une procédure variationnelle d'ajustement du champ de vent sur une topographie complexe : tests préliminaires sur l'île d'Hawaii

International audienc

Intérêt et limitation de différents types de modèles en météorologie appliquée

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