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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.

Electroencephalography is an important tool in the diagnosis of primary or secondary disorders of central nervous system, epilepsy is one of the most important. Sometimes normal electroencephalographic activity simulates epileptiform activity. This activity does not have pathological value and is considered a variant of normal brain activity. The main groups based on the classification proposed by Blum and Cervone are: rhythmic patterns; epileptiform patterns; lambda waves, and age dependent changes. These changes are frequently seen during drowsiness, sleep and during activation maneuvers and more common in children and adolescents. The aim of this review is to present the most important characteristics of each of these variants, in order to prevent them being confused with abnormal brain activity.

Over a period of 5 months, 50 patients were entered into the preoperative autologous blood donation program of our Service. Two patients were excluded; one had previously had an acute myocardial infarction and the other had epilepsy. The remaining 48 patients, which accounted for one third of our elective surgery procedures, all accepted to enter the program. These patients were not more severely anemic than the other patients not in the program and who underwent the same surgical procedures. No patients required homologous blood transfusion and no complications ascribable to the procedure were observed. Although it is not utilized widely to date, predeposited autologous blood transfusion is a safe and efficient method, with no remarkable morbidity, even in patients aged over 65 years, the age group of one half of our patients. Autologous blood transfusion programs are necessary. The indications, the exclusion criteria for patients at high risk and the objective parameters for evaluating its success must be established.

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.