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Note: A multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, psammomatous melanotic schwannomas and other tumors. Inheritance: A genetically heterogeneous autosomal dominant disorder with high penetrance for CNC1 (penetrance for CNC1 due to PRKARIA defects is close to 100%); this estimate of penetrance does not apply to kindreds wit...

INTRODUCTION Percutaneous renal surgery has been considered one of the most important advances in urology. There are several possibilities to perform a kidney puncture such as using fluoroscopy, ultrasound or both. The aim of this article is to describe our puncture technique. MATERIAL AND METHODS Correct puncture is one of the most critical and challenging steps during percutaneous surgery. ...

A new RoboCup soccer league is being developed, focussing on human-robot interaction. In this league each team consists of both human players, mounted on Segway HT scooters, and a robotic version of the Segway; both human and robot players must cooperate to score goals. This paper presents details of the physical design of our autonomous Segway Soccer robot and the modified Segway scooter that ...

Damaged DNA templates provide an obstacle to the replication fork and can cause genome instability. In eukaryotes, tolerance to damaged DNA is mediated largely by the RAD6 pathway involving ubiquitylation of the DNA polymerase processivity factor PCNA. Whereas monoubiquitylation of PCNA mediates error-prone translesion synthesis (TLS), polyubiquitylation triggers an error-free pathway. Both bra...

DNA damage that escapes repair and blocks replicative DNA polymerases is tolerated by bypass mechanisms that fall into two general categories: error-free template switching and error-prone translesion synthesis. Prior studies of DNA damage responses in Saccharomyces cerevisiae have demonstrated that repair mechanisms are critical for survival when a single, high dose of DNA damage is delivered,...

alpha-OH-PdG, an acrolein-derived deoxyguanosine adduct, inhibits DNA synthesis and miscodes significantly in human cells. To probe the cellular mechanism underlying the error-free and error-prone translesion DNA syntheses, in vitro primer extension experiments using purified DNA polymerases and site-specific alpha-OH-PdG were conducted. The results suggest the involvement of pol eta in the cel...

Alias: Familial atypical mole-malignant melanoma syndrome (FAMMM); B-K mole syndrome Inheritance: Autosomal dominant with high penetrance and variable expressivity; the frequency of DNS is difficult to evaluate because a number of cases without malignant evolution are not recorded; DNS defines patients with numerous dysplastic nevi. FAMMM defines families where coexist numerous nevi with malign...

The definition of hereditary prostate cancer (HPC) is based on the family history (pedigree). The suggested criteria include 1) nuclear family with three (or more) cases of prostate cancer, 2) prostate cancer in three successive generations, or 3) at least two men diagnosed with the disease before the age of 55 years. Familial aggregation of cases that don't fulfill the HPC criteria are defined...

The penetrance for colon polyps is close to 100% and bi-allelic MUTYH mutation carriers generally develop 10-100’s adenomatous polyps/adenomas of the colon and the rectum. Approximately one third of patients also develop polyps/adenomas in the upper gastrointestinal tract. Other manifestations frequently seen in Familial Adenomatous Polyposis (FAP) are also present in minority of MAP patients: ...