Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Published: February 2006
AI Article Synopsis
Article Abstract
Cancer-prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, premature chromatid separation of all chromosomes, and mosaicism for various trisomies and monosomies. Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome). We here describe molecular analysis of BUB1B (encoding BubR1) in seven Japanese families with the PCS syndrome. Monoallelic BUB1B mutations were found in all seven families studied: a single-base deletion (1833delT) in four families; and a splice site mutation, a nonsense mutation, and a missense mutation in one family each. Transcripts derived from the patients with the 1833delT mutation and the splice site mutation were significantly reduced, probably due to nonsense-mediated mRNA decay. No mutation was found in the second alleles in the seven families studied, but RT-PCR of BUB1B and Western blot analysis of BubR1 indicated a modest decrease of their transcripts. BubR1 in the cells from two patients showed both reduced protein expression and diminished kinetochore localization. Their expression level of p55cdc, a specific activator of anaphase-promoting complex, was normal but its kinetochore association was abolished. Microcell-mediated transfer of chromosome 15 (containing BUB1B) into the cells restored normal BubR1 levels, kinetochore localization of p55cdc, and the normal responses to colcemid treatment. These findings indicate the involvement of BubR1 in p55cdc-mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) of BubR1 is involved in the PCS syndrome.
Introduction: Post-COVID-19 syndrome (PCS) is a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection-associated chronic condition characterized by long-term violations of physical and mental health. People with type 2 diabetes (T2D) are at high risk for severe COVID-19 and PCS.
Aim: The current study aimed to define the predictors of PCS development in people with T2D for further planning of preventive measures and improving patient outcomes.
Purpose: Lack of a control group(s) and selection bias were the main criticisms of previous studies investigating the prevalence of post-coronavirus disease 2019 (COVID-19) syndrome (PCS). There are insufficient data regarding paediatric PCS, particularly in the SARS-CoV-2 Omicron era. As such, our study investigated PCS-associated symptoms in a representative control-matched cohort.
Rationale: Paraneoplastic Cushing syndrome (PCS) is an adverse prognostic factor for small cell lung cancer (SCLC) patients. Retrospective studies have shown that the median survival of SCLC complicated with PCS was <7 months. No immunochemotherapy has been recorded in the treatment of SCLC with PCS.
Background: Nearly half of subjects after COVID-19 still experience symptoms after 12 weeks, as described in the Post-Covid Syndrome (PCS). Other than the physical alterations perceived, mental health disorders have been frequently reported. Mindfulness-Based Interventions (MBIs) showed beneficial effects on psychological well-being in patients with respiratory dysfunctions, but they have been rarely tested in severe COVID-19 survivors.
Background: Chronic pelvic pain is a debilitating but common syndrome that is a burden both for patients and health systems. Pelvic congestion syndrome (PCS) contributes to 30-40% of patients presenting with chronic pelvic pain where no other cause is identified. However, PCS is poorly understood, underdiagnosed and undertreated, with the average time to diagnosis being reported as up to four years after initial presentation.
