Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study

AbstractA balanced robertsonian translocation (rob) results from fusion of 2 acrocentric chromosomes. Carriers are phenotypically normal and are often diagnosed because of recurrent miscarriages, infertility, or aneuploid offspring. Mortality and site-specific cancer risks in carriers have not been prospectively investigated. We followed 1,987 carriers diagnosed in Great Britain for deaths and cancer risk, over an average of 24.1 years. Standardized mortality and incidence ratios were calculated comparing the number of observed events against population rates. Overall mortality was higher for carriers diagnosed before age 15 years (standardized mortality ratio (SMR) = 2.00, 95% confidence interval (CI): 1.09, 3.35), similar for those diagnosed aged 15 –44 years (SMR = 1.06, 95% CI: 0.86–1.28), and lower for those diagnosed aged 45–84 years (SMR = 0.81, 95% CI: 0.68, 0.95). Cancer incidence was higher for non-Hodgkin lymphoma (standardized incidence ratio (SIR) = 1.90, 95% CI: 1.01, 3.24) and childhood leukemia (SIR = 14.5, 95% CI: 1.75, 52. 2), the latter particularly in rob(15;21) carriers (SIR = 447.8, 95% CI: 11.3, 2,495). Rob(13;14) carriers had a higher breast cancer risk (SIR = 1.58, 95% CI: 1.12, 2.15). Mortality risks relative to the population in diagnosed carriers depend on age at cytogenetic diagnosis, possibly reflecting ag e-specific cytogenetic referral reasons. Carriers might be at greater risk of childhood leukemia and non-Hodgkin lymphoma an...
Source: American Journal of Epidemiology - Category: Epidemiology Source Type: research

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Publication date: Available online 14 September 2019Source: Pharmacological ResearchAuthor(s): Rihui Wu, Xueting Mei, Yibiao Ye, Ting Xue, Jiasheng Wang, Wenjia Sun, Caixia Lin, Ruoxue Xue, Jiabao Zhang, Donghui XuAbstractZinc(II) complexes of curcumin display moderate cytotoxicity towards cancer cells at low micromolar concentrations. However, the clinical use of zinc(II) complexes is hampered by hydrolytic insolubility and poor bioavailability and their anticancer mechanisms remain unclear. Here, we investigated the efficacy and mechanism of action of a polyvinylpyrrolidone (PVP-k30)-based solid dispersion of Zn(II)-curc...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
ConclusionsBoth 18F-HX4 and 18F-FMISO PET/CT can be used as biomarkers for tumor hypoxia and radiotherapy-associated changes. The clinical utilization of these two PET tracers needs to be further validated.
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
HPV DNA detection in urine samples of women: "An efficacious and accurate alternative to cervical samples?" Expert Rev Anti Infect Ther. 2019 Sep 13;: Authors: Pattyn J, Van Keer S, Téblick L, Van Damme P, Vorsters A Abstract Cervical cancers are caused by persistent human papillomavirus (HPV) infections [1]. To date, HPV DNA testing using clinician-obtained cervical cells is the reference for identifying cervical infection. However, great interest has been shown for the use of self-sampling methods to detect HPV [2]. One method for self-sampling to be considered is the collection of f...
Source: Expert Review of Anti-Infective Therapy - Category: Infectious Diseases Tags: Expert Rev Anti Infect Ther Source Type: research
ConclusionsPRDR radiation therapy with capecitabine were well tolerated and effective method for treating patients with recurrent breast cancer. Prospective studies are necessary to compare side effects and efficacy with conventional dose rate re-irradiation, as well as, to evaluate the potential role for capecitabine in the recurrent setting.
Source: Practical Radiation Oncology - Category: Cancer & Oncology Source Type: research
ConclusionActual body weight and bone marrow involvement may be utilized as potential predictive indicators of R-IRRs. Further study is needed to validate these indicators and determine appropriate utilization in practice.
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
Abstract Objective: The aims of this study were to determine the prevalence of human papillomavirus (HPV) infection in women treated for infertility and oocyte donors, and to investigate the possible influence of HPV infection on reproductive outcomes. Study design: In this observational laboratory-based study, cervical swabs were collected from oocyte donors (n = 207), and women treated for infertility (n = 945) and analysed for the presence of high-risk HPV (hrHPV) genotypes using the cobas® 4800 HPV Test and PapilloCheck® HPV-Screening. Associations between hrHPV positiv...
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Eur J Obstet Gynecol Reprod Biol X Source Type: research
Abstract Two highly selective OFF-ON isomer fluorescent probes (1 and 2) for homo-/cysteine were designed and synthesized. The pyrene modified tetraphenylethylene derivative with AIE was used as luminescent group while maleimide was used as recognition group. These two isomer probes were found to be nearly nonfluorescent when treated with GSH. However, upon interaction with Cys or Hcy, the fluorescence was enhanced by 2000 folds in a wide pH range from 3 to 10. Experimental results and DFT calculation have demonstrated that the fluorescence OFF-ON switch of such thiol probes is resulted from the termination of the...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
vac D Abstract Metabolomics generate a profile of small molecules from plant extracts, which could be directly responsible for bioactivity effects. Using dry-column flash chromatography enabled a rapid and inexpensive method for the very efficient separation of plant extract with a high resolution. This separation method coupled to NMR and FTIR-based metabolomics is applied to identify bioactive natural products. OPLS multivariate analysis method, was used for correlation the chemical composition of the plant extracts, Amphoricarpos autariatus, with the results of cytotoxic activity against Human cervical adenocar...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
Abstract CA125/MUC16 is an ovarian tumor cell marker widely used as a biomarker in epithelial ovarian carcinoma. CA125/MUC16 is also used for evaluation of the ROMA (Risk of Ovarian Malignancy Algorithm) value. In this work, a Surface Plasmon Resonance Imaging (SPRI) biosensor for circulating CA125/MUC16 has been developed. The anti-MUC16 antibody was attached to a gold chip via a cysteamine linker. The EDS/NHS protocol was used for the covalent attachment of the antibody. The developed biosensor is specific for CA125/MUC16, and exhibits good recovery and acceptable precision. Its linear response range (2.2-150 U/...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
Abstract A new class of intracellular signal amplification approach, integrating biodegradable manganese dioxide (MnO2) nanosheet with target-triggered DNAzyme recycling amplification in one nanosystem, was developed for highly specific and sensitive monitoring of microRNAs (miRNAs) in living cells. Briefly, the MnO2 nanosheets were employed as carrier and quencher for the hairpin-locked-DNAzyme strands (H1). Upon entering cells, the surface-adsorbed strands (H1) can be released due to the degradation of the MnO2 nanosheets by cellular glutathione. Subsequently, the hybridization reaction between target miRNAs and...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
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