Butlerdeal8701

INTRODUCTION Fifty per cent of patients consent for total knee replacement (TKR) with unrealistic expectations about what it involves and can achieve. A framework is needed to help surgeons identify key knowledge gaps and misconceptions that can be targeted during the informed consent process. In this qualitative study, we explored knowledge gaps and misconceptions by asking patients to reflect on their expectations along the TKR journey. METHODS Eligible adults were ≥18 years, 12-month post-TKR and had completed a validated expectations questionnaire pre-TKR as part of a joint replacement registry. To capture a variety of perspectives, people with a range of pre-TKR expectation scores were invited. In interviews, participants reflected on anticipated and actual experiences and unexpected experiences they had along the way. Transcripts were analysed through inductive thematic analysis. Recruitment ceased when thematic saturation was reached. ETHICS APPROVAL Ethical approval for this study was granted by the St Vincent's Hospital Melbourne Ethics Committee (LRR 077/18). Vitamin A acid order RESULTS In the final sample (n = 20; 50% female; median age = 72 years; contralateral TKR = 11), all participants described instances where their anticipated and actual experiences diverged, including high expectations of improvements in pain/function (pre-surgical optimism), lacking awareness about anaesthetic procedures (perioperative misunderstandings), feeling unprepared for the length of the recovery period (post-operative misestimations) and trying to make sense of ongoing functional limitations (long-term misattributions). DISCUSSION AND CONCLUSION These findings are captured in a preliminary framework of therapeutic misconception. Although future research is needed to test this framework prospectively in larger, more generalisable samples, surgeons can consider these key knowledge gaps and misconceptions when consenting for TKR. © 2020 John Wiley & Sons, Ltd.OBJECTIVES The accumulation of advanced glycation end products (AGEs) may be involved in the pathophysiology of several neuropsychiatric diseases. In this study, the skin AGEs level of several neuropsychiatric diseases was assessed with a simple noninvasive method. Moreover, whether skin AGE level can be used as a biomarker for the diagnosis of these diseases was evaluated. METHODS A total of 27 patients with schizophrenia, 26 with major depressive disorder, and 10 with major neurocognitive disorders (MNDs), such as Alzheimer's disease or dementia with Lewy body, as well as 26 healthy controls were enrolled in this study. The skin AGE levels of the patients were assessed with an AGE scanner, a fluorometric method used to assay skin AGE levels. RESULTS One-way analysis of covariance was performed after adjusting for significant covariates, including age. Although the group with MNDs had higher skin AGE levels than the other groups, the main effect of diagnosis did not significantly affect the skin AGE levels of the groups. CONCLUSIONS Skin AGE levels in neuropsychiatric diseases with mild symptoms did not significantly differ. Further large-scale studies using a simple noninvasive method for the early detection and treatment of MNDs must be conducted. © 2020 The Authors. International Journal of Methods in Psychiatric Research Published by John Wiley & Sons Ltd.The transcription factor RUNX1, a pivotal regulator of HSCs and haematopoiesis, is a frequent target of chromosomal translocations, point mutations or altered gene/protein dosage. These modifications lead or contribute to the development of myelodysplasia, leukaemia or platelet disorders. A better understanding of how regulatory elements contribute to fine-tune the RUNX1 expression in haematopoietic tissues could improve our knowledge of the mechanisms responsible for normal haematopoiesis and malignancy insurgence. The cohesin RAD21 was reported to be a regulator of RUNX1 expression in the human myeloid HL60 cell line and during primitive haematopoiesis in zebrafish. In our study, we demonstrate that another cohesin, NIPBL, exerts positive regulation of RUNX1 in three different contexts in which RUNX1 displays important functions in megakaryocytes derived from healthy donors, in bone marrow samples obtained from adult patients with acute myeloid leukaemia and during zebrafish haematopoiesis. In this model, we demonstrate that alterations in the zebrafish orthologue nipblb reduce runx1 expression with consequent defects in its erythroid and myeloid targets such as gata1a and spi1b in an opposite way to rad21. Thus, also in the absence of RUNX1 translocation or mutations, additional factors such as defects in the expression of NIPBL might induce haematological diseases. © 2020 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.Faithful establishment and maintenance of proportion is seen across biological systems and provides a glimpse at fundamental rules of scaling that underlie development and evolution. Dysregulation of proportion is observed in a range of human diseases and growth disorders, indicating that proper scaling is an essential component of normal anatomy and physiology. However, when viewed through an evolutionary lens, shifts in the regulation of relative proportion are one of the most striking sources of morphological diversity among organisms. To date, the mechanisms via which relative proportion is specified and maintained remain unclear. Through the application of powerful experimental, genetic and molecular approaches, the teleost fin has provided an effective model to investigate the regulation of scaling, size, and relative growth in vertebrate organisms. This article is categorized under Establishment of Spatial and Temporal Patterns > Regulation of Size, Proportion, and Timing Adult Stem Cells, Tissue Renewal, and Regeneration > Regeneration Comparative Development and Evolution > Regulation of Organ Diversity. © 2020 Wiley Periodicals LLC.BACKGROUND Rearrangements of chromosome 8q24/MYC (8q24/MYC-r), resulting from t(8;14)(q24;q32), t(2;8)(p11;q24), or t(8;22)(q24;q11), are mainly associated with Burkitt lymphoma/leukemia (BL) and rarely observed in patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). The characteristics of BCP-ALL with 8q24/MYC-r are poorly understood. PROCEDURE A retrospective nationwide study of data from patients with pediatric BCP-ALL with 8q24/MYC-r in Japan was conducted to clarify the clinical and biological characteristics associated with 8q24/MYC-r BCP-ALL. RESULTS Ten patients with BCP-ALL with 8q24/MYC-r, including three with double-hit leukemia (DHL) (two with t(8;14)(q24;q32) and t(14;18)(q32;q21) and one with t(8;14) and t(3;22)(q27;q11)), were identified. Patients with BCP-ALL with 8q24/MYC-r had higher median age and uric acid and lactate dehydrogenase levels, than those without 8q24/MYC-r. All patients were initially treated with ALL-type chemotherapy; however, four, including one with DHL, were switched to BL-type chemotherapy, based on cytogenetic findings. One patient relapsed after standard-risk ALL-type chemotherapy, and two patients with DHL did not attain complete remission with chemotherapy; all three died within 11 months. The other seven patients treated with BL-type or high-risk ALL-type chemotherapy are alive without disease. link2 CONCLUSIONS The clinical and laboratory features of BL with IG-MYC rearrangement, displaying a BCP immunophenotype (Wagener et al. and Herbrueggen et al. termed it as pre-BLL), are similar to those of BCP-ALL with 8q24/MYC-r. Low-risk ALL-type chemotherapy may not be appropriate for them, and further studies are required to establish an adequate therapeutic strategy. Further studies of DHL to identify new treatment strategies are also needed. © 2020 Wiley Periodicals, Inc.INTRODUCTION Indications for hematopoietic stem cell transplantation (HSCT) in pediatric acute myeloid leukemia (AML) are primarily dependent on risk stratification at diagnosis and relapse status. We sought to determine whether access to HSCT is influenced by regional and socioeconomic factors. METHODS Children with newly diagnosed AML aged  less then  15 years between 2001 and 2015 were identified using the Cancer in Young People in Canada national population-based registry. Factors potentially associated with the receipt of HSCT were studied using univariate and multivariable logistic regression models. RESULTS Overall, 568 children with newly diagnosed AML were included and 262 (46%) received HSCT. A greater proportion of patients, 103/157 (65.6%), underwent HSCT after first or subsequent relapse compared to 159/411 (38.7%) patients who underwent transplant before relapse. Among patients for whom HSCT would be considered before relapse, factors associated with higher odds of HSCT in a multivariable analysis were poor versus good-risk cytogenetics (Odds ratio [OR] 30.0, 95% confidence interval [CI] 7.7-117.0), diagnosis during 2012-2015 versus 2001-2006 (OR 3.2, 95% CI 1.6-6.3), diagnosis in eastern Canada versus central Canada (OR 3.7, 95% CI 1.9-7.3), and age 10-14 years versus age  less then  1 year (OR 5.4, 95% CI 2.3-12.8). Among patients for whom HSCT would be considered after first relapse, higher odds of HSCT was associated with diagnosis at a HSCT center (OR 2.1, 95% CI 1.1-4.1). CONCLUSION Patients diagnosed at a HSCT performing center and patients from eastern Canada had higher odds of receiving HSCT. link3 This may suggest preferential access to HSCT for certain patients. © 2020 Wiley Periodicals, Inc.Invited for the cover of this issue is Jun Zhu at Xiamen University. The image depicts the aromaticity of hetero-metallapentalenes with different metal (Fe, Co, Ni, Ru, Rh, Re, Os, Ir) centers and heteroatoms (B, N, and O) obtained by computational investigation. Read the full text of the article at 10.1002/chem.202000148. © 2020 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.Telomeres are repetitive noncoding deoxynucleotide sequences that cap chromosomes to protect DNA. Telomere length (TL) is affected by both genetic and environmental factors, and shortening of telomeres is associated with multiple neuropsychiatric disorders, early life stress, and age-related cognitive dysfunction. Two previous studies associated shorter TL with autism spectrum disorder (ASD). We aimed to replicate this finding, describe TL in unaffected siblings, and explore novel relationships with symptoms and cognitive function in families with ASD. Participants were 212 male children and adolescents ages 1-17 years (86 with ASD, 57 unaffected siblings, and 69 typically developing [TD]) and 64 parents. TL was measured from blood leukocytes with quantitative real-time polymerase chain reaction and results are expressed by relative ratios with a single copy gene. We replicated that children and adolescents with ASD have shorter TL, compared to TD, and show that unaffected siblings have TL in between those ofw that unaffected siblings have telomere length (TL) in between those of TD and ASD. We find shortened TL is related to more severe sensory symptoms. This may mean families with ASD, especially those with elevated sensory symptoms, are at risk for worse age-related health outcomes. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.