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"Perinatal loss, a devastating cyclone": A situation-specific nursing theory.
J Nurs Scholarsh
September 2024
Department of Health Sciences, Public University of Navarre (UPNA), Pamplona, Spain.
Purpose: The aim of this paper is to develop a preliminary theory that explores in depth into understanding the experiences of women who have suffered a spontaneous perinatal loss during any trimester of their pregnancy regarding their emotional response to this loss.
Design: A grounded theory approach was used, and 25 in-depth interviews were conducted with Spanish women who suffered a spontaneous perinatal loss.
Methods: Theoretical sampling and constant comparative analysis were used to reach theoretical saturation.
Germline mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
May 2023
Institute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, causing impaired protein O-glycosylation. The patients have a decreased activity of T-synthase (), an enzyme that exclusively synthesizes the T-antigen, a ubiquitous O-glycan core structure and precursor for all extended O-glycans.
View Article and Find Full Text PDFVariable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Eur J Hum Genet
October 2022
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1 or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80-90% of patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe a four-generation family with a deceased ACDMPV neonate, her sibling from the electively terminated pregnancy, healthy mother with a history of pulmonary arterial hypertension (PAH), an unaffected aunt, an aunt deceased due to findings consistent with ACDMPV, and a reportedly unaffected grandmother, all with the frameshifting variant c.
View Article and Find Full Text PDFSpontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.
Eur J Med Genet
August 2021
Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark.
Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5' UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear whether deletions including only the non-coding region of FMR1 are pathogenic. We report a deletion in the 5' UTR of FMR1 in an unaffected male infant and review 12 reported deletions involving only the non-coding region of FMR1.
View Article and Find Full Text PDFFamily Sense-Making After a Down Syndrome Diagnosis.
Qual Health Res
October 2020
The University of Utah, Salt Lake City, Utah, USA.
The script of parenting shifts when parents learn of their child's Down syndrome diagnosis. To build a theory of the diagnostic experience and early family sense-making process, we interviewed 33 parents and nine grandparents living in the United States who learned prenatally or neonatally of their child's diagnosis. The core category of for the future encompassed the social process of sense-making over time as parents managed their sorrow, shock, and grief and amassed meaningful messages that anchored them as they looked toward the future.
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