119 research outputs found
Abstract 1324: Profile of common prostate cancer risk variants in an unscreened Romanian population
No full textAbstract
In the present study we investigated for the first time the profile of common prostate cancer risk variants in an unscreened Romanian population. The study population consisted of 990 unrelated histopathologically confirmed prostate cancer (PCa) cases and 1,034 male controls consisting of patients admitted for urological and surgical conditions, excluding cancer. DNA was extracted from whole blood at deCODE Genetics (Reykjavik, Iceland) and genotyped using Illumina SNP arrays, 24.295.558 variants were imputed using the 1000 Genomes dataset in the 2,024 Romanian subjects. A systematic literature review for variants associated with prostate cancer identified in previous GWAS‘ was done using the NHGRI catalog as a starting point, identifying 238 unique variants from 28 studies. None of the tested variants in a Romanian only GWAS reached a genome wide significance (p-value lower than 5x10-8) but 807 markers reached p-values of 1x10-6. Thirty-one of the previously-reported SNPs replicated in the Romanian cohort, with the strongest associations seen at: 8q24.21, 11q13.3, 6q25.3, 5p15.33, 22q13.2, 17q12 and 3q13.2. The most signficantly replicated variants in Romania are rs1016343 at 8q24.21 (P = 2.2x10-4), rs7929962 at 11q13.3 (P = 2.7x10-4) and rs9364554 at 6q25.2 (P = 4.7x10-4). Our present study is the first GWAS on prostate cancer performed on a Romanian cohort. The high proportion of clinically significant disease in the Romanian prostate cancer cases will allow the dissection of the association between genetic variation and severe disease. Acknowledgements: This study was funded in part by the European Union FP7 Program (ProMark project 202059) and by the EEA grant (ROMCAN project RO14-0017; EEA-JRP-RO-NO-20131-10191).
Citation Format: Paul D. Iordache, Bjarni Halldórsson, Andrei Manolescu, Dana Mates, Radu Ursu, Viorel Jinga. Profile of common prostate cancer risk variants in an unscreened Romanian population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 1324. doi:10.1158/1538-7445.AM2017-1324</jats:p
Genome editing with CRISPR-Cas9 in the Illinois long term selection experiment
No full textRecent advances in genome editing by Clustered Regularly Interspaced Palindromic Repeat (CRISPR) and CRISPR Associated Protein 9 (Cas9) have markedly increased our ability to characterize genes and use genetics to the benefit of agriculture. In this work, we utilize this technology to study the Illinois Long Term Selection Experiment (ILTSE), a unique germplasm resource for studies of genome evolution and genetic variants that contribute to phenotypic traits. ILTSE genotypes, Illinois High Protein 1 and Illinois Low Protein 1, create highly regenerable embryogenic type I callus, enabling transformation and genome editing approaches to characterize gene function. The Lemon White 1 (Lw1) locus was initially targeted as a proof of concept to generate albino plants easily detectable in a population of regenerated plants. Four guide RNAs were tested for their function using an in vitro Cas9 cleavage assay. CRISPR editing vectors were delivered to embryogenic calli using biolistics and transgenic events selected. Multiple albino plants indicative of biallelic mutations were recovered in the ILP1 genotypes at 1.5% efficiency; however none were produced from the IHP1 genotype. A second CRISPR experiment targeted the L-Asparaginase (ASNase) gene, which exhibits reduced gene expression in IHP1 compared to ILP1. The goal was to test whether reducing ASNase gene function can increase grain protein concentration in the ILP1 background. Four guide RNAs were designed and tested in vitro before delivery. Two ILP1 events were generated with novel ASNase deletion alleles. Limited T1 seed was recovered and will be used for future characterization.Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2021-08-01The student, Stephen Jinga, accepted the attached license on 2019-07-17 at 13:40.The student, Stephen Jinga, submitted this Thesis for approval on 2019-07-17 at 13:46.This Thesis was approved for publication on 2019-07-18 at 13:21.DSpace SAF Submission Ingestion Package generated from Vireo submission #14358 on 2019-11-26 at 13:06:13Made available in DSpace on 2019-11-26T20:49:33Z (GMT). No. of bitstreams: 3
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Previous issue date: 2019-07-18Embargo set by: Seth Robbins for item 112980
Lift date: 2021-11-26T20:49:41Z
Reason: Author requested U of Illinois access only (OA after 2yrs) in Vireo ETD systemU of I Only Restriction Lifted for Item 112980 on 2021-11-27T10:15:37Z
Factors influencing the number of dialysis sessions associated with urological interventions
No full textABSTRACT
Introduction. The purpose of the study was to determine whether the following 4 factors: age, sex, type of intervention and type of dialysis (acute or chronic), have an influence on the number of dialysis sessions associated with urological interventions.
Material and methods. The study included almost 3000 patients undergoing dialysis, during a 3 year period, in 3 university hospitals in Bucharest, Romania. In the end, after applying the inclusion and exclusion criteria, the study group consisted of 89 patients. The time frame in which the number of dialysis sessions was evaluated started from the moment the patients entered urological surveillance for undergoing a urological intervention until the patients where discharged.
Results. Out of the 4 factors, the following statistically significant differences were encountered: the mean number of dialysis sessions was lower in patients under 50 years than in those older than 69 years (p<0,05, p=0,02) and the mean number of dialysis sessions was lower for chronic dialysis than for acute dialysis (p<0,05, p=0.038).
Conclusions. While the number of elderly patients required more dialysis sessions than the younger patients in association with urological interventions, there were no significant differences regarding the sex of the patient. Although there were no significant differences regarding the type of urological interventions, the acute onset of the renal insufficiency associated with acute dialysis required a larger number of dialysis sessions than the patients already on chronic dialysis at the time of surgery
Fascinating Molecular and Immune Escape Mechanisms in the Treatment of STIs (Syphilis, Gonorrhea, Chlamydia, and Herpes Simplex)
No full textThe incidence of syphilis, gonorrhea, chlamydia, and herpes simplex has increased over the last decade, despite the numerous prevention strategies. Worldwide scientists report a surge in drug-resistant infections, particularly in immunocompromised patients. Antigenic variations in syphilis enable long-term infection, but benzathine penicillin G maintains its efficiency, whereas macrolides should be recommended with caution. Mupirocin and zoliflodacin were recently introduced as therapies against ceftriaxone-resistant gonococcus, which poses a larger global threat. The gastrointestinal and prostatic potential reservoirs of Chlamydia trachomatis may represent the key towards complete eradication. Similar to syphilis, macrolides resistance has to be considered in genital chlamydiosis. Acyclovir-resistant HSV may respond to the novel helicase-primase inhibitors and topical imiquimod, particularly in HIV-positive patients. Novel drugs can overcome these challenges while nanocarriers enhance their potency, particularly in mucosal areas. This review summarizes the most recent and valuable discoveries regarding the immunopathogenic mechanisms of these sexually transmitted infections and discusses the challenges and opportunities of the novel molecules and nanomaterials
The Potential Impact of Large Language Models on Doctor-Patient Communication: A Case Study in Prostate Cancer
No full text
Conflitos da dinastia Guterres através da sua cronologia
No full textO estudo dos conflitos ocorridos no Reino de Jinga durante a Dinastia Guterres não pode dispensar o domínio da cronologia desta Dinastia. Baseado na informação dos historiadores Cadornega, Cavazzi, outros, e ainda na documentação existente nos arquivos de Portugal e Angola, o autor recompõe a série dos Reis de Angola pertencentes à Dinastia Guterres que durante cerca de um século governou em Jinga. Além de proceder à identificação e ordenação desses Reis, o autor procede ao estabelecimento da cronologia dos respectivos reinados, preocupando-se assim em fornecer aos historiadores uma base de apoio que faltava para os seus trabalhos. Por outro lado oferece aos jovens que se debruçarem sobre a história de Angola, uma nomenclatura dinástica que inclui reis de certa época (sécs. XVII / XVIII), de quem ouviram falar em termos confusos ou mesmo de quem nunca ouviram falar. A Dinastia Guterres tem início em 1669 com a eleição do Rei D. João I (D. João Guterres Ngola Kanini), descendente de Ngola Kiluanji I, um rei da proto-história de Angola. O estudo genealógico e cronológico dos reis que se lhe seguiram, foi feito com alguma exaustão pelo autor em textos inéditos que são mencionados. A última Rainha que usou o apelido Guterres foi D. Ana III, falecida em golpe-de-estado em 1767. A partir dessa data passou a haver dois reinados paralelos. O Reino de Jinga fraccionou-se em dois Estados de diferente amplitude, sendo o mais amplo dirigido por D. Francisco II (D. Francisco Kaluete ka Mbandi), sobrinho da falecida Rainha, e o outro Estado, centralizado à volta das Ilhas do Rio Kuanza, dirigido por D. Kamana, filha da mesma Rainha D. Ana III. Os seus reinados terão terminado cerca de 1810, provável data em que foi eleito Rei único de Jinga, o filho de D. Kamana chamado Ndala a Kamana. Este dirigiu o Reino unificado até cerca de 1833. Embora estes últimos citados Reis fossem descendentes de D. João I, já não portavam consigo o apelido Guterres que vinculava aos seus anteriores possuidores a qualidade de se candidatarem à realeza de Angola.The study of the conflicts in the Kingdom of Jinga during the Dynasty Guterres can\u27t dispense the chronology of this Dynasty. The Author, based on the information of historians as Cadornega, Cavazzi and others, and on documents in the Archives of Portugal and Angola, reconstitutes the series of Kings of Angola that belong to the Dinasty Guterres and ruled Jinga for about a century. The A. orderly identifies the Kings and establishes the chronology of their reigns, in order to help the historians with their works. On the other hand he gives the young people who are studying the History of Angola, a nomenclature that includes the Kings of the XVII and XVIII centuries, who are probably unfamiliar or unknown to them. Dinasty Guterres begins in 1669 with the election of Dom João I (D. João Guterres Ngola Kanini), descendant of Ngola Kiluanji I, a king of the Protohistory of Angola. The A., based on his unpublished texts, does the genealogical and chronological study of the Kings that followed D. João I. Dona Ana III was the last queen called Guterres; she died in a \u27coup d\u27état\u27 in 1767. After this date the Kingdom of Jinga was divided into two ones, the largest ruled by Dom Francisco II (D. Francisco Kaluete ka Mbandi), nephew of the dead Queen, and the other, around the River Kuanza Islands, ruled by Dona Kamana, daughter of the Queen D. Ana III. About 1810 their reigns were over, and D. Kamana\u27s son, Ndala a Kamana, was elected the only king of Jinga. He ruled the unified country till about 1833. Although these last Kings were descendants of D. João I, they didn\u27t have the surname Guterres, that until then was essential to the right of the Jinga\u27s royalty. (Translated by Maria Antónia Sampaio
DYSMETABOLIC CHANGES ASSOCIATED WITH CHRONIC HEPATITIS C VIRUS, ANOTHER PATTERN OF DIABETES?
No full textCurrent Approaches in the Allocation of Liver Transplantation
No full textIn recent decades, important advances have been made in the field of liver transplantation. One of the major problems remaining in this area is the small number of donors. Thus, recent data bring multiple updates of the indications and contraindications of this therapeutic method. The main goal is to increase the number of patients who can benefit from liver transplantation, a therapeutic method that can improve life expectancy and the quality of life of patients with end-stage liver disease. Another goal in the management of these patients is represented by the optimal care of those on the waiting list during that period. A multidisciplinary team approach is necessary to obtain the best results for both the donor and the recipient
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