Diagnostic pitfalls in a young adult with new diabetes

Autor: Natalie Below, Deborah Morrison, Ruth McGowan, Gregory C Jones

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2023)

A 20-year-old South Asian male presented with polyuria, polydipsia, HbA1c 81 mmol/mol, BMI 28.8 and family history of both type 1 and type 2 diabetes mellitus. As autoantibody testing was negative and c-peptide level demonstrated significant endogeno

Externí odkaz: https://doaj.org/article/a52eb5d7bd63452996cd135e3e7d7794

Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

Autor: Gabrielle Norrish, Gali Kolt, Elena Cervi, Ella Field, Kathleen Dady, Lidia Ziółkowska, Iacopo Olivotto, Silvia Favilli, Silvia Passantino, Giuseppe Limongelli, Martina Caiazza, Marta Rubino, Anwar Baban, Fabrizio Drago, Karen Mcleod, Maria Ilina, Ruth McGowan, Graham Stuart, Vinay Bhole, Orhan Uzun, Amos Wong, Laz Lazarou, Elspeth Brown, Piers E.F. Daubeney, Amrit Lota, Grazia Delle Donne, Katie Linter, Sujeev Mathur, Tara Bharucha, Satish Adwani, Jon Searle, Anca Popoiu, Caroline B. Jones, Zdenka Reinhardt, Juan Pablo Kaski

Publikováno v: ESC Heart Failure, Vol 8, Iss 6, Pp 5057-5067 (2021)

Abstract Aims Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype,

Externí odkaz: https://doaj.org/article/606e02324a3e411484c1c9f074115236

Birth incidence, deaths and hospitalisations of children and young people with Down syndrome, 1990–2015: birth cohort study

Autor: Daniel Mackay, Laura Anne Hughes-McCormack, Angela Henderson, Sally-Ann Cooper, J P Pell, Ruth McGowan, Lisa O'Leary

Publikováno v: BMJ Open, Vol 10, Iss 4 (2020)

Objective To investigate current Down syndrome live birth and death rates, and childhood hospitalisations, compared with peers.Setting General community.Participants All live births with Down syndrome, 1990–2015, identified via Scottish regional cy

Externí odkaz: https://doaj.org/article/0ee3debd1c9d43e98f8d736b43ecd648

A case of 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia presenting with delayed puberty

Autor: Amy R Frank, Sophie Longmuir, Jane McNeilly, Ruth McGowan, Ahmed S Faisal, Karen Smith

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::58cdadbaa27e1c8ef794438f69edd79f
https://doi.org/10.1530/endoabs.86.p177

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Autor: Lynne J, Hocking, Claire, Andrews, Christine, Armstrong, Morad, Ansari, David, Baty, Jonathan, Berg, Therese, Bradley, Caroline, Clark, Austin, Diamond, Jill, Doherty, Anne, Lampe, Ruth, McGowan, David J, Moore, Dawn, O'Sullivan, Andrew, Purvis, Javier, Santoyo-Lopez, Paul, Westwood, Michael, Abbott, Nicola, Williams, Timothy J, Aitman, Margo, Whiteford

Publikováno v: Hocking, L J, Andrews, C, Armstrong, C, Ansari, M, Baty, D, Berg, J, Bradley, T, Clark, C, Diamond, A, Doherty, J, Lampe, A, McGowan, R, Moore, D J, O'Sullivan, D, Purvis, A, Santoyo-Lopez, J, Westwood, P, Abbott, M, Williams, N & Aitman, T J & Miedzybrodzka, Z 2022, ' Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing ', European Journal of Human Genetics, vol. 31 . https://doi.org/10.1038/s41431-022-01226-3

NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 394 families

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09a3b01751706f954ef04300960a4c0
https://pubmed.ncbi.nlm.nih.gov/36474026