TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

BACKGROUND: To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. METHODS: The genotype of 41 affected members of 16 families and nine sporadic cases was investigated by direct sequencing of the TGFBI gene. Clinical, histological and immunohistochemical characteristics of corneal opacification were reported and compared with the coding region changes in the TGFBI gene. RESULTS: A novel mutation Leu509Pro was detected in one family with a geographic pattern-like clinical phenotype. Histopathologically we found amyloid together with non-amyloid deposits and immunohistochemical staining of Keratoepithelin (KE) KE2 and KE15 antibodies. In two families and one sporadic case the novel mutation Gly623Arg with a late-onset, map-like corneal dystrophy was identified. Here amyloid and immunohistochemical staining of only KE2 antibodies occurred. Further, five already known mutations are reported: Arg124Cys Arg555Trp Arg124His His626Arg, Ala546Asp in 13 families and five sporadic cases of German origin. The underlying gene defect within the TBFBI gene was not identified in any of the four probands with Thiel-Behnke corneal dystrophy. CONCLUSIONS: The two novel mutations within the TGFBI gene add another two phenotypes with atypical immunohistochemical and histopathological features to those so far reported.

Medical geography and phthisic immunity in the high altitudes: The origins of a Therapeutic hypothesis

Medical geography expanded considerably in the 19 th century. Its expansion was aided by a Neo-Hippocratic trend in medical thinking, progress in statistics and hygiene, and an overall vision of geography formulated early in the century by French and German geographers inspired by Alexander von Humboldt. By tracing out the process that prompted certain « doctor-geographers » to put forth the hypothesis of immunity phthisis in elevated regions, this article seeks to show how various trends in medical geography led to the establishment of the « altitude cure » as a treatment for tuberculosis.

Adaptation en français et en allemand d'une échelle de pression des pairs pour jeunes adultes : le Peer Pressure Inventory [Adaptation of a peer pressure scale in French and German: the Peer Pressure Inventory].

BACKGROUND: Peer pressure is regarded as an important determinant of substance use, sexual behavior and juvenile delinquency. However, few peer pressure scales are validated, especially in French or German. Little is known about the factor structure of such scales or the kind of scale needed: some scales takes into account both peer pressure to do and peer pressure not to do, while others consider only peer pressure to do. The aim of the present study was to adapt French and German versions of the Peer Pressure Inventory, which is one of the most widely used scales in this field. We considered its factor structure and concurrent validity. METHODS: Five thousand eight hundred and sixty-seven young Swiss men filled in a questionnaire on peer pressure, substance use, and other variables (conformity, involvement) in a cohort study. RESULTS: We identified a four-factor structure, with the three factors of the initial Peer Pressure Inventory (involvement, conformity, misconduct) and adding a new one (relationship with girls). A non-valued scale (from no peer pressure to peer pressure to do only) showed stronger psychometric qualities than a valued scale (from peer pressure not to do to peer pressure to do). Concurrent validity was also good. Each behavior or attitude was significantly associated with peer pressure. CONCLUSION: Peer pressure seems to be a multidimensional concept. In this study, peer pressure to do showed the strongest influence on participants. Indeed, peer pressure not to do did not add anything useful. Only peer pressure to do affected young Swiss men's behaviors and attitudes and was reliable.

Prescribing practices in German and Swiss psychiatric university and in non-university hospitals : national differences

RÉSUMÉ Il existe dans la pratique de prescription des médicaments de grandes variations entre les hôpitaux. Ces variations sont d'origines multifactorielles, comme par exemple des traditions de prescriptions locales, des considérations pharmato-économiques, la disponibilité d'un médicament, des différences de population, la prévalence d'une maladie, etc. Les études disponibles sur les pratiques de prescription sont souvent réduites à un centre unique, à une région ou à un pays. L'emploi de méthodes et de définitions particulières a jusqu'à pressent limité des comparaisons plus étendues entre les pays et régions. Le but de cette étude est de comparer la pratique de prescription de nouveaux médicaments psychotropes dans des cliniques suisses et allemandes. Cinq hôpitaux psychiatriques ont été sélectionnés, faisant tous partie du projet AMSP, et représentant des cliniques suisses, allemandes, de niveau universitaire ou non. Des données sur 572 patients et 1745 prescriptions ont été collectées durant un jour précis. Les comparaisons ont été ajustées pour l'âge et le sexe. Une différence significative (p <0.001) a été trouvée dans la prescription de nouveaux médicaments antidépresseurs, les cliniciens suisses en donnant en moyenne plus (65.2%) que les allemands (48.3%). Aucune différence significative n'a été démontrée dans la prescription des nouveaux médicaments antipsychotiques atypiques. Il semble en conséquence que les psychiatres suisses ont une propension plus élevée à prescrire des nouveaux médicaments antidépresseurs. Cela semble être dû à des différences de traditions de prescriptions nationales ou régionales. D'autres études sont nécessaires pour investiguer les influences économiques sur la pratique de prescription dans des cliniques suisses et allemandes. SUMMARY Obiective: There are great variations between hospitals in the way drugs are prescribed and these variations may be due to multiple factors such as local prescribing traditions, pharmacoeconomic considerations, drug availability; regional differences of population, disease prevalence etc. Available studies on prescribing habits have, besides studies performed in a unique centre, until now often been restricted to single countries or regions and the comparisons across countries or regions have often been limited by the use of diverse methodologies and definitions. The aim of the present study was to compare drug prescriptions between German and Swiss psychiatric services with regard to their preference of newer psychotropics. Material, method: Five psychiatric hospitals, associated to the AMSP-project, were chosen to represent Swiss and German clinics, university and non-university settings. Data were available from one index day on 572 patients and 1745 prescriptions. The comparisons were adjusted for age and gender. Results: There was a significant difference (p < 0.001) with regard to the prescription of newer antidepressants (NAD), Swiss clinicians giving proportionally more (65.2 %) than the German psychiatrists (48.3 %). No significant difference was, on the other hand, found as to the proportion of atypical antipsychotics, the lack of difference being due to the higher proportion of clozapine among the atypical antipsychotics in Germany. Conclusion: There seems therefore to be a higher propensity for Swiss hospital psychiatrists to prescribe newer antidepressants. This seems to be due to national or regional prescribing traditions. Further studies are needed to investigate the economical influences on antidepressant prescribing in Swiss and German clinics.)

Die Hypercholesterinämie in der Allgemeinpraxis: zwei Repräsentativbefragungen in der Schweiz. [Hypercholesterolemia in general practice: 2 representative surveys in Switzerland].

Two representative surveys of general practitioners in 1987 and 1989 showed, that cigarette smoking and high blood pressure are considered the most important risk factors for coronary heart disease. Elevated blood cholesterol level rank third. Between the two surveys no significant changes took place. The blood cholesterol level is usually measured at a check-up visit or in presence of another risk factor. Routine measurement is not common. At what level do Swiss physicians initiate a therapy? The median range in 1989 for a diet therapy was 6.2-6.7 mmol/l (240-260 mg%) for a 30 years old person, and 6.7-7.2 mmol/l for a 60 years old person. Lipid-lowering drugs are used at about 1 mmol/l (40 mg%) higher levels and there is less agreement between the physicians. Within two years the levels of initiating therapy decreased significantly. Differences between the three Swiss language regions (german/french/italian) in initiating therapy can be seen. 90% of the physicians mentioned compliance problems with a diet therapy. In 1989 half of the surveyed doctors experienced insufficient results in both diet and drug treatment. Further, compliance problems and side effects of drug treatment are mentioned. Half of the physicians reported having tested their own cholesterol level in the last 12 months. Older physicians are considerably more conscious of high cholesterol levels than younger.