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https://www.selleckchem.com/products/ph-797804.html Estimated HRQoL was 0.43 ± 0.33 for EQ5D3L-index-value. Mean dependence level was 6.2 ± 5 for BADLs and 9.2 ± 5 for IADLs. In total, 31.6% of patients had severe cognitive impairment with a mean score of 5.4 ± 3.6 in SPMQS. In total, 30.2% of patients were categorized as G3, and presented high comorbidity more frequently than the rest. Corrected CI mean score was 6.2 ± 1.7. Significant relationship was founded in survival time, number of admissions and CI score. CONCLUSIONS Using predictive risk models like CRG is supposed to assess the complexity of morbidity but in our extremely elderly population partially fail in stratify and predict health resource consumption. © The Author(s) 2020. Published by Oxford University Press in association with the International Society for Quality in Health Care. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.CONTEXT Germline loss-of-function CDKN1B gene variants cause the autosomal dominant syndrome of multiple endocrine neoplasia type 4 (MEN4). Even though pituitary neuroendocrine tumors are a well-known component of the syndrome, only two cases of Cushing's disease (CD) have so far been described in this setting. AIM To screen a large cohort of CD patients for CDKN1B gene defects and to determine their functional effects. PATIENTS We screened 211 CD patients (94.3% pediatric) by germline whole-exome sequencing (WES) only (n=157), germline and tumor WES (n=27), Sanger sequencing (n=6) and/or germline copy number variant (CNV) analysis (n=194). Sixty cases were previously unpublished. Variant segregation was investigated in the patients' families and putative pathogenic variants were functionally characterized. RESULTS Five variants of interest were found in one patient each one truncating (p.Q107Rfs*12) and four non-truncating variants, including three missense changes affecting the CDKN1B protein scatter domain (p.I119T, p.E126Q, and p.D136G) an

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