A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.

[Old and new interventional therapies in the treatment of symptomatic benign prostate hyperplasia (BPH)]

Benign Prostatic Hyperplasia is a common entity among the aging male population. Its prevalence is increasing with age and is around 80% in the over 80-years old. The androgen-estrogen ratio changes in favor of the estrogens, which leads to a growth of prostatic tissue, presenting histologically as hyperplasia. BPH can cause irritative or obstructive symptoms or both. Nowadays we speak of bladder storage or bladder voiding symptoms, summarised as LUTS (Lower Urinary Tract Symptoms). LUTS has a structural and a functional component, the structural being caused by the size of the adenoma itself the functional depending on the muscle tone of the bladder neck and the prostatic urethra. To investigate LUTS, we use validated symptom scores, sonography for residual urine and eventually a urodynamic evaluation. There are 3 grades of BPH. The indication for an interventional therapy is relative in BPH II, and absolute in BPH III. Prior to treatment, other diseases mimicking the same symptoms, have to be ruled out and adequatly treated. Electro-resection of the prostate (TUR-P) remains the standard therapy and the benchmark any new technology has to compete with. TUR-P has good short- and longterm results, but can be associated with a considerable perioperative morbidity, and the learning curve for the operator is long. The most promising of the newer techniques is the Holmium-Laser-Enucleation of the prostate (Laser-TUR-P), showing at least identical short- and median-term results, but a lower perioperative morbidity than TUR-P For several minimally-invasive techniques, indications are limited. TUMT TUNA, WIT and laser-coagulation all produce a coagulation necrosis of the prostatic tissue by thermic damage with secondary tissue shrinking. Urodynamic results however, are not comparable to TUR-P or Laser-TUR-P, and significantly more secondary interventions within 2 to 5 years are required. Minimal-invasive techniques present a favorable alternative for younger patients without complications of BPH, and for older patients with relevant comorbidities, and can usually be performed under local anaesthesia. The morbidity is low and further therapies remain possible later, if necessary.

Ethyl sulphate and ethyl glucuronide in vitreous humor as postmortem evidence marker for ethanol consumption prior to death

To clarify the circumstances of death, the degree of inebriation is of importance in many cases, but for several reasons the determination of the ethanol concentration in post-mortem samples can be challenging and the synopsis of ethanol and the direct consumption markers ethyl glucuronide (EtG) and ethyl sulphate (EtS) has proved to be useful. The use of a rather stable matrix like vitreous humor offers further advantages. The aim of this study was to determine the concentrations of ethanol and the biomarkers in the robust matrix of vitreous humor and to compare them with the respective levels in peripheral venous blood and urine. Samples of urine, blood from the femoral vein and vitreous humor were taken from 26 deceased with suspected ethanol consumption prior to death and analyzed for ethanol, EtS and EtG. In the urine samples creatinine was also determined. The personal data, the circumstances of death, the post-mortem interval and the information about ethanol consumption prior to death were recorded. EtG and EtS analysis in urine was performed by LC-ESI-MS/MS, creatinine concentration was determined using the Jaffé reaction and ethanol was detected by HS-GC-FID and by an ADH-based method. In general, the highest concentrations of the analytes were found in urine and showed statistical significance. The mean concentrations of EtG were 62.8mg/L (EtG100 206.5mg/L) in urine, 4.3mg/L in blood and 2.1mg/L in vitreous humor. EtS was found in the following mean concentrations: 54.6mg/L in urine (EtS100 123.1mg/L), 1.8mg/L in blood and 0.9mg/L in vitreous humor. Ethanol was detected in more vitreous humor samples (mean concentration 2.0g/kg) than in blood and urine (mean concentration 1.6g/kg and 2.1g/kg respectively). There was no correlation between the ethanol and the marker concentrations and no statistical conclusions could be drawn between the markers and matrices.

Developing a smoking cessation program for Turkish-speaking migrants in Switzerland: novel findings and promising effects

Introduction: Recent studies show that smoking prevalence in the Turkish-speaking migrant population in Switzerland is substantially higher than in the general population. A specific group treatment for Turkish-speaking migrants was developed and tested in order to provide the migrant population with equal access to smoking cessation programs and to improve the migration-sensitive quality of such programs by sociocultural targeting. Methods: The evaluation of the program included quantitative (questionnaires t1 and t2 and follow-up by telephone) and qualitative methods (participant observation and semi-structured interviews). Results: The results showed that 37.7% of the 61 participants were smoke free at the 12-month follow-up. The factors of being in a partnership and using nicotine replacement products during the program were positively associated with successful cessation. We also demonstrated the importance of “strong ties” (strong relationships between participants) and the sensitivity of the program to sociocultural (e.g., social aspects of smoking in Turkish culture, which were addressed in relapse prevention), socioeconomic (e.g., low financial resources, which were addressed by providing the course for free), and migration-specific (e.g., underdeveloped access to smoking cessation programs, which was addressed using outreach strategy for recruiting) issues. Conclusions: Overall, the smoking cessation program was successfully tested and is now becoming implemented as a regular service of the Swiss Public Health Program for Tobacco Prevention (by the Swiss Association for Smoking Prevention).

"Sounds Funny? – Humor Effects of Phonological and Prosodic Figures of Speech"

Whereas semantic, logical, and narrative features of verbal humor are well-researched, phonological and prosodic dimensions of verbal funniness are hardly explored. In a 2 × 2 design we varied rhyme and meter in humorous couplets. Rhyme and meter enhanced funniness ratings and supported faster processing. Rhyming couplets also elicited more intense and more positive affective responses, increased subjective comprehensibility and more accurate memory. The humor effect is attributed to special rhyme and meter features distinctive of humoristic poetry in several languages. Verses that employ these formal features make an artful use of typical poetic vices of amateurish poems written for birthday parties or other occasions. Their metrical patterning sounds “mechanical” rather than genuinely “poetic”; they also disregard rules for “good” rhymes. The processing of such verses is discussed in terms of a metacognitive integration of their poetically deviant features into an overall effect of processing ease. The study highlights the importance of nonsemantic rhetorical features in language processing.