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1.
Nat Commun ; 5: 5135, 2014 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-25351205

RESUMO

The incidence of renal cell carcinoma (RCC) is increasing worldwide, and its prevalence is particularly high in some parts of Central Europe. Here we undertake whole-genome and transcriptome sequencing of clear cell RCC (ccRCC), the most common form of the disease, in patients from four different European countries with contrasting disease incidence to explore the underlying genomic architecture of RCC. Our findings support previous reports on frequent aberrations in the epigenetic machinery and PI3K/mTOR signalling, and uncover novel pathways and genes affected by recurrent mutations and abnormal transcriptome patterns including focal adhesion, components of extracellular matrix (ECM) and genes encoding FAT cadherins. Furthermore, a large majority of patients from Romania have an unexpected high frequency of A:T>T:A transversions, consistent with exposure to aristolochic acid (AA). These results show that the processes underlying ccRCC tumorigenesis may vary in different populations and suggest that AA may be an important ccRCC carcinogen in Romania, a finding with major public health implications.


Assuntos
Carcinoma de Células Renais/genética , Variação Genética , Genoma Humano/genética , Genômica , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Europa (Continente) , Feminino , Adesões Focais/metabolismo , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Taxa de Mutação , Proteínas de Fusão Oncogênica/genética , Fosfatidilinositol 3-Quinases/genética , Splicing de RNA/genética , Análise de Sequência de DNA , Transdução de Sinais/genética
2.
Urol Ann ; 5(1): 18-22, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23662003

RESUMO

INTRODUCTION: There is a paucity of a standardized post-operative complications grading system in urology especially in the elderly population. Studies show satisfactory survival and oncological outcomes albeit with a slight increase in post-operative morbidity compared to younger patients. The Clavien-Dindo classification for post-operative complications is established as a valid system worldwide and applicable in many fields of surgery. PURPOSE: Retrospective assessment of post-operative complications in patients >75 years who underwent open/laparoscopic nephrectomy/nephroureterectomy for renal diseases and grading the post-operative complications according to the Clavien-Dindo classification. MATERIALS AND METHODS: Retrospective review of case notes was performed in patients >75 years who underwent a laparoscopic/open nephrectomy/nephroureterectomy between 2000 and 2008. Post-operative complications were graded according to the Clavien-Dindo classification. RESULTS: A total of 54 patients >75 years underwent nephrectomy/nephroureterectomy. 29 patients had laparoscopy and 25 had open surgery. Fifty one patients had a malignancy and 3 had benign diseases. Grade I, II, IIIa, IIIb and IVa were 25.6%, 41.1%, 7.7%, 7.7% and 17.9% respectively. No significant difference was noted in the 2 groups. CONCLUSIONS: We believe that in elderly patients, laparoscopic surgery can be offered safely without significantly increasing the surgical risks. The Clavien-Dindo classification is easy to use and effectively applied to categorize post-operative complications associated with nephrectomy/nephroureterectomy in elderly population. However, this system needs slight modification to incorporate intra-operative complications and large studies are needed to validate and standardize this classification for all urological procedures.

3.
Indian J Urol ; 25(1): 27-33, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19468425

RESUMO

Open pyeloplasty is the gold standard treatment for adult ureteropelvic junction obstruction (UPJO) with published success rates consistently over 90%. In recent years, the management of UPJO has been revolutionized by the introduction of endoscopic procedures and laparoscopic techniques. We analyzed the long-term results of endoscopic and other minimal access approaches for the treatment of UPJO.Early results for endopyelotomy were promising but long-term results were not encouraging. Laparoscopic pyeloplasty technique is well defined and duplicates the surgical principles of conventional open pyeloplasty. With such a large variety of minimally invasive procedures for the treatment of UPJO available, the treatment choice for UPJO must be based on the success and morbidity of the procedures, the surgeon's experience, the cost of the treatment, and the patient's choice. We feel that with the technological advances in instrumentation coupled with a decrease in cost and improved training of urological surgeons, laparoscopic pyeloplasty may evolve to be the new "gold" standard for the treatment of UPJO.

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