St Bartholomew's Hospital

About: St Bartholomew's Hospital is a healthcare organization based out in London, United Kingdom. It is known for research contribution in the topics: Population & Cancer. The organization has 11054 authors who have published 13229 publications receiving 501102 citations. The organization is also known as: St. Bartholomew's Hospital & The Royal Hospital of St Bartholomew.

Prader-Willi syndrome: advances in genetics, pathophysiology and treatment.

Abstract: Prader-Willi syndrome (PWS) is a complex human genetic disease that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13 Identification of the imprinting control centre, novel imprinted genes and distinct phenotypes in PWS patients and mouse models has increased interest in this human obesity syndrome In this review I focus on: (i) the chromosomal region and candidate genes associated with PWS, and the possible links with individual PWS phenotypes identified using mouse models; (ii) the metabolic and hormonal phenotypes in PWS; (iii) postmortem studies of human PWS hypothalami; and (iv) current and potential advances in the management of PWS and its complications This could have benefits for a wide spectrum of endocrine, paediatric and neuropsychiatric diseases

Combined Analysis of Autoantibodies Improves Prediction of IDDM in Islet Cell Antibody-Positive Relatives

Abstract: Prediction of insulin-dependent diabetes mellitus (IDDM) is still largely based on islet cell antibodies (ICAs), but it may be improved by combined analysis with other humoral markers. We examined autoantibodies to insulin (IAAs), glutamic acid decarboxylase (GAD), and M r 37,000 and M r 40,000 fragments of islet antigens (37 and 40 kDa) together with ICA subtypes in 101 family members with ICAs ≥10 Juvenile Diabetes Foundation units (JDF U) followed for up to 14 years, of whom 18 have developed IDDM. Life-table analysis showed a 43% risk of IDDM within 10 years for those with ICAs ≥10 JDF U, rising to 53% for those with ICAs ≥20 JDF U. The risk for ICAs ≥10 JDF U was 62% in the family members in the youngest age quartile ( 40.7 years of age ( P = 0.03). ICAs ≥10 JDF U combined with IAAs gave a risk of 84% ( P = 0.03 compared with IAA − ), and ICAs ≥10 JDF U combined with GAD antibodies gave a risk of 61% ( P = 0.018). The risk for ICAs >10 JDF U with antibodies to 37-kDa antigen was 76% ( P 3 autoantibodies (14 cases detected) ( P + relatives came from the 27% with multiple autoantibodies and estimate that 88% of individuals within this category will need insulin treatment within 10 years. We propose a simple predictive strategy based on these observations.