Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses.

Cumulative incidence of permanent stoma after sphincter preserving low anterior resection of mid and low rectal cancer.

Background: Changes in the treatment of rectal cancer during the past decades have led to an increase in sphincter preservation with a consecutive decline in abdominoperineal resection rates.

Objective: The aim of this study was to analyze the cumulative incidence of permanent stoma in patients undergoing sphincter-preserving resection of mid and low rectal cancer.

Design: This study is a retrospective analysis of prospectively collected data.

Education and training of young people who grew up with cochlear implants.

Aims: We want to provide new qualitative and quantitative data on the long-term impact of cochlear implantation (CI) on educational placement, vocational outcomes and employment status of hearing-impaired adolescents and young adults.

Methods: 52 cochlear implant users (age: 12-21 years) and a control group of 155 normal-hearing peers participated in structured interviews on their educational level, achievement, satisfaction with their vocational placement and correspondence between career aspiration and actual occupation.

Results: The educational level of CI-using pupils did not differ from the Austrian population.

Development of one experimental module to study the modulation of the propagation velocity of chemical excitation waves in gel by weak external force (gravity).

Biological and chemical systems in which the pattern of flow of energy and matter imposes self-organization can be seen as examples of excitable media. One property of such media is the presence of excitation waves. The Belouzov-Zabotinsky(B-Z) reaction system and the retinal spreading depression wave are examples of experimental models of excitable media in which the influence of gravity can be studied.

Treatment-induced cortical reorganization after stroke in humans.

Background And Purpose: Injury-induced cortical reorganization is a widely recognized phenomenon. In contrast, there is almost no information on treatment-induced plastic changes in the human brain. The aim of the present study was to evaluate reorganization in the motor cortex of stroke patients that was induced with an efficacious rehabilitation treatment.

Regulation of myocardial blood flow in man during strenuous exercise and severe hypoxia.

Myocardial blood flow has been studied in 7 trained and 7 untrained healthy volunteers by means of the argon method. Measurements were carried out at rest, during stepwise increase in arterial hypoxia down to 8.7 vol % and during heavy exercise comparable to 65% of delta VO2 max.

Telemetry of cardiac left ventricular pressure in conscious dogs.

A fully implantable telemetric system for the measurement of cardiac left ventricular pressure and derived parameters in conscious dogs is presented. It provides the following advantages: ethical acceptability, scientific relevance, economical experimentation, avoidance of stress-induced situations for the animal, experiments without anaesthesia or sedation. The system has an operation time which allows the sequential pharmacological evaluation of a great number of drugs in individual dogs as has been shown by testing the effect of the positive inotropic agent, dobutamine, and the calcium antagonists, verapamil and nifedipine.