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Background: To describe the variation in PSA level by age group and screening round in the ERSPC centres and the variation in cancer detection rates in relation to the underlying prostate cancer incidence. Methods: Individual data on men invited for the first and second screening rounds according to protocol (excluding early recalls and interval cancers) were obtained from the central database of the ERSPC (cut-off date 31st December 2006). Data were compared between and within centres for the core age group (55-69 at entry). The cancer detection rate (CDR) was compared with the expected background prostate cancer incidence rate in the absence of screening adjusted for the incidence rate in non-attenders and the control arm (IRS). Results: Mean PSA values in the age groups 55-59 years and 65-69 years showed little variation by centre, except for the Dutch centre, where an increase from 1.6 to 1.8 ng/ml and a decline from 2.9 to 2.5 ng/ml was observed, respectively. Most tumours were detected at the PSA range 4.0-9.9 ng/ml, with a shift to more cancer detection at 3.0-3.9 ng/ml in the second screening round. There was high variability in the CDR between the centres in both the first (16-46 per 1000) and the second screening rounds (14-50 per 1000). Although the ratio CDR/IRS was less variable, it is somewhat lower in Italy and Switzerland (12 and 14,respectively) and higher in the Netherlands (28), than in most other centres and in Belgium the ratio increased markedly, from 20 to 44 between the first and second rounds. Conclusion: There was no clear evidence of a relationship between the underlying incidence and mean PSA levels at screening or the cancer detection rate. (C) 2010 Elsevier Ltd. All rights reserved.

Two large-scale randomized screening trials, the Prostate, Lung, Colorectal and Ovary (PLCO) cancer trial in the USA and the European Randomized Screening for Prostate Cancer (ERSPC) trial in Europe are currently under way, aimed at assessing whether screening reduces prostate cancer mortality. Up to the end of 1998, 102,691 men have been randomized to the intervention arm and 115,322 to the control arm (which represents 83% of the target sample size) from 7 European countries and 10 screening centers in the USA. The principal screening method at all centers is determination of serum prostate-specific antigen (PSA). The PLCO trial and some European centers use also digital rectal examination (DRE) as an ancillary screening test. In the core age group (55-69 years), 3,362 of 32,486 men screened (10%) had a serum PSA concentration of 4 ng/ml or greater, which is 1 cut-off for biopsy (performed in 84%). An additional 6% was referred for further assessment based on other criteria, with much less efficiency. Differences in PSA by country are largely attributable to the age structure of the study population. The mean age-specific PSA levels are lower in the PLCO trial (1.64 ng/ml [in the age group 55-59 years], 1.80 [60-64 years] and 2.18 [65-69 years) than in the ERSPC trial (1.28-1.71 [55-59], 1.75-2.87 [60-64] and 2.48-3.06 [65-69 years]). Detection rates at the first screen in the ERSPC trial range from 11 to 42/1,000 men screened and reflect underlying differences in incidence rates and screening procedures. In centers with consent to randomization design, adherence in the screening arm is 91%, but less than half of the men in the target population are enrolled in the trial. In population-based centers in which men were randomized prior to consent, all eligible subjects are enrolled, but only about two-thirds of the men in the intervention arm undergo screening. Considerable progress has been made in both trials. Enrollment will be completed in 2001. A substantial number of early prostate cancers have been detected. The differences between countries seem to reflect both underlying prostate cancer incidence and screening policy. The trials have the power to show definitive results in 2005-2008.

Background: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type of mutation and to the environmental factors. A gender difference in relation to the severity of the disease has been suspected. More than 100 different pathogenic variants of hereditary transthyretin (TTR) mutations have been reported. Objective: To describe 32 patients with confirmed TTR Ser50Arg mutation from the same geographical origin. Methods: Seven families with up to four affected generations underwent genetic testing and prospective clinical and laboratory evaluations. Results: The mutation was confirmed in seven patients from different families with clinical symptoms compatible with ATTR amyloidosis, and in 25 (62%) of the 40 direct relatives tested. Of the 32 patients with positive test results, 18 (56%) were men. Only 5 (16%) subjects were disease-free at the time of the genetic test (mean age: 20, range: 18–30-year-old). The rest developed symptoms at a young age, between ages 36 and 41. Symptomatic, histologically positive patients were older than carriers and symptomatic patients without a confirmatory biopsy. The later generation displayed symptoms at a younger age. Initial manifestations in the 27 symptomatic patients were neuropathic in 19 (70%), gastrointestinal in 6 (22%) and autonomic in 1 (4%). Significant differences were demonstrated among genders, where men had a considerably worse outcome. Conclusion: ATTR Ser50Arg mutation was associated with an early onset, an unbalanced male to female ratio, a more aggressive course in males and possibly displayed anticipation.

Objective: We aim to describe the main characteristics of patients with 3 different TTR mutations. Background Familial amyloid polyneuropathy is a late-onset inherited amyloidosis associated with a mutation on the transthyretin (TTR) gene. Marked diversity exists in clinical characteristics. Design/Methods: 33 patients from 10 different families with proven TTR mutation (27 S50A, 4 S52P, and 2 G47A) underwent prospective neurologic and autonomic examination. All evaluations were performed in a period of 12 months. Results: 19 male and 14 women were included. Age at onset was later in the patients with G47A mutation (33 vs 38 vs 42 yo). S52P had more weight loss (mean of 26kg vs 12-13kg) Initial symptoms were neuropathic in 66%, gastrointestinal in 18% and autonomic in 3%. Overall, men had a more severe form of the disease and worse prognosis. Specifically, men showed more GI (15 vs 11, p:0.001), GU (4 vs 13, p:0.17), and autonomic (13 vs 5, p:0.039) symptoms, had further weight loss (13±17 vs 8±4 kg, p:0.005), orthostatic SBP fall (26±15 vs 4.5±10 mmHg, p:0.01), and decreased NCV amplitudes (sensitive median 4.40 vs 7.20mV p:0.040, sural 2.5 vs 10.4mV p:0.000, motor median 2.4 vs 4.4mV p:0.014, and tibial 2.7 vs 5.8mV p:0.000 nerves). Three men (15.7%) and one woman (7.2%) died during the study period. The men died at a younger age (44±3.5 vs 62, p:0.049). Conclusions: S52P mutation showed a more aggressive course. Because the hereditary mode is autosomal dominant, no gender differences should be expected. However, 1-2% of plasma TTR circulates bound to high-density lipoprotein (HDL). The higher HDL levels associated with estrogen could explain these differences. Men should be considered for earlier liver transplant or pharmacologic treatment when available. It is possible that measures aimed to increase HDL may have some impact in the natural history of the disease. Disclosure: Dr. Gonzalez Duarte has nothing to disclose. Dr. Cardenas-Soto has nothing to disclose. Dr. Berenguer-Sanchez has nothing to disclose. Dr. Martinez-Banos has nothing to disclose. Dr. Estanol has nothing to disclose. Dr. Garcia-Ramos has nothing to disclose. Dr. Cantu-Brito has nothing to disclose.

We report a case of male subfertility with ejaculate volume less than 1 cc and moderate oligoasthenozoospermia. Partial obstruction of the seminal duct system was suspected and transrectal ultrasonography revealed a mullerian duct cyst. We confirmed the diagnosis with transperineal puncture and contrast filling of the cyst and seminal vesicles. This procedure allowed us to avoid scrotal vasostomy and perform conventional vasography as well as to measure the distance between the ceiling of the cyst and the urethra, which facilitated subsequent transurethral surgery.