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Cervical carcinoma advancement is actually irritated through lncRNA ZNF281 by simply joining KLF15.
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 [email protected] 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 Sixty cases were previously unpublished.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) and one 5'UTR deletion (c.-29_-26delAGAG). No CNVs were found. All cases presented early (10.5±1.3 years) and apparently sporadically. Aside from colon adenocarcinoma in one carrier, no additional neoplasms were detected in the probands or their families. In vitro assays demonstrated protein instability and disruption of the scatter domain of CDKN1B for all variants tested. CONCLUSIONS Five patients with CD and germline CDKN1B variants of uncertain significance (n=2) or pathogenic/likely pathogenic (n=3) were identified, accounting for 2.6% of the patients screened. Our finding that germline CDKN1B loss-of-function may present as apparently sporadic, isolated pediatric CD has important implications for clinical screening and genetic counselling. Published by Oxford University Press on behalf of the Endocrine Society 2020. This work is written by (a) US Government employee(s) and is in the public domain in the US.CONTEXT Prader-Willi syndrome (PWS) is associated with several hypothalamic-pituitary hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus and hypertension, already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity or even mortality. OBJECTIVE To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT). DESIGN MTP or ITT in adults with PWS (N=82) and review of medical files for symptoms of hypocortisolism related to surgery (N=645). selleck chemical SETTING Outpatient clinic. PATIENTS OR OTHER PARTICIPANTS Eighty-two adults with genetically confirmed PWS. MAIN OUTCOME MEASURE For MTP, 11-deoxycortisol >230 nmol/L was considered sufficient. For ITT, cortisol >500 nmol/L (Dutch, French and Swedish patients) or >450 nmol/L (British patients) was considered sufficient. RESULTS CAI was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism. CONCLUSIONS CAI is rare (1·2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS. © Endocrine Society 2020.PURPOSE The current systematic review will identify enablers of psychological safety within the literature in order to produce a comprehensive list of factors that enable psychological safety specific to healthcare teams. DATA SOURCES A keyword search strategy was developed and used to search the following electronic databases PsycINFO, ABI/INFORM, Academic search complete and PubMed and grey literature databases OpenGrey, OCLC WorldCAT and Espace. STUDY SELECTION Peer-reviewed studies relevant to enablers of psychological safety in healthcare setting that were published between 1999 and 2019 were eligible for inclusion. Covidence, an online specialized systematic review website, was used to screen records. Data extraction, quality appraisal and narrative synthesis were conducted on identified papers. DATA EXTRACTION Thirty-six relevant studies were identified for full review and data extraction. A data extraction template was developed and included sections for the study methodology and the specific enablers identified within each study. RESULTS OF DATA SYNTHESIS Identified studies were reviewed using a narrative synthesis. Within the 36 articles reviewed, 13 enablers from across organizational, team and individual levels were identified. These enablers were grouped according to five broader themes priority for patient safety, improvement or learning orientation, support, familiarity with colleagues, status, hierarchy and inclusiveness and individual differences. CONCLUSION This systematic review of psychological safety literature identifies a list of enablers of psychological safety within healthcare teams. This list can be used as a first step in developing observational measures and interventions to improve psychological safety in healthcare teams. © 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 [email protected].
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