On prenatal ultrasonography, polyhydramnion, internal hydrocephalus, hypoplasia of the corpus callosum, and dysmorphic features were detected in a fetus of a 22-year-old mother. Subsequent karyotyping of amniocytes revealed supernumerary material in distal 7q. The baby was delivered after 38+4 weeks of gestation, and postnatal array CGH analysis showed a triplication of 7q35→q36, resulting in partial tetrasomy. The triplication was not distinguishable from a duplication by conventional and molecular cytogenetic methods, but was clearly identified by array CGH analysis. The phenotype was rather severe with limited cardiac contractility and subsequent respiratory problems, as well as progressive neurologic deterioration and several dysmorphic features. Triplications in general are rare, and this case is the first report of a microscopically visible triplication in 7q. Duplication patients of the same chromosomal segment also showed a severe phenotype, however, in our opinion there are no common features suggesting a clinically recognizable distal 7q duplication/triplication syndrome.

Einleitung: Beim Walker-Warburg-Syndrom (WWS) handelt es sich um ein seltenes, autosomal-rezessiv vererbtes, Fehlbildungssyndrom mit kongenitaler Muskeldystrophie und typischen zerebralen und okulären Fehlbildungen. Die zerebralen Fehlbildungen umfassen die Lissenzephalie Typ II, den Hydrozephalus und eine zerebelläre Hypoplasie. Zu den Augenfehlbildungen zählen Katarakte, Vorderkammerfehlbildungen und eine retinale Dysplasie. Weitere assoziierte Fehlbildungen sind ein Mikropenis, Kryptorchismus.

Der neue fünfsemestrige Weiterbildungsstudiengang mit dem Abschluss „MA Gerontologie“ für Berufstätige aus verschiedensten Arbeitsfeldern trägt den sich im Zuge des demografischen Wandels verändernden Anforderungen in vielen Berufsfeldern Rechnung. Unterschiedliche Kohorten älterer Menschen bilden einen großen Anteil an Kunden und Klienten verschiedener Dienstleistungen und stellen andererseits selbst ein unverzichtbares gesellschaftliches Potential dar. Insbesondere Professionelle in Leitungsstellen, aber auch Selbstständige erwerben Kenntnisse und Handlungskompetenzen für komplexe Handlungsfelder, um Modelle guter Praxis zu etablieren. Die Bandbreite der Erstausbildungen wird für den interdisziplinären Diskurs didaktisch genutzt, der für fruchtbare Problemlösungen in gesellschaftlichen Aufgabenfeldern erforderlich ist.

Our new five-semester MA course in gerontology has been designed as a programme of continuing education for professionals from various fields being confronted with hitherto unknown challenges by "the greying of societies". While many services are directed to meet the needs of older clients, the elderly also represent a huge potential of various resources indispensable to society.Coming from various fields of study and different positions (mainly management or self-employed), our students engage in an interdisciplinary discourse from the beginning which helps them acquire knowledge and competencies to later deal with the complex tasks requiring interdisciplinary problem solving skills and establish "best practice" models.Universities are expected to engage in continuing education, thus being the places of choice for postgraduate studies in gerontology, which also offer research opportunities. Universities of Applied Sciences, intended to foster regional development, integrate students into applied research projects thereby transferring knowledge and skills to reach out to the community. During the first four semesters, each student enrolled in the MA Gerontology course plans, implements and evaluates a project of his/her own. This ensures the integration of gerontological knowledge and research methods and helps to ex-tend and improve practical skills. We support students by regular coaching and supervision.

Zusammenfassung Hintergrund: Der Phänotyp der interstitiellen Deletion 4q– ist durch unspezifische neurologische Symtome sowie v.a. faziale Dysmorphiezeichen gekennzeichnet. Als relativ typisch und meistens richtungsweisend gilt jedoch das Vorliegen von kongenitalen Leukodermien (Piebaldismus, Partieller Albinismus). Kasuistik: Wir berichten über ein männliches Neugeborenes, bei dem aufgrund multipler, nicht zuzuordnender Dysmorphiezeichen ohne Leukodermien der Verdacht auf eine chromosomale Störung vorlag. Es fand sich überraschenderweise eine interstitielle Deletion, die bisher in dieser Form nicht beschrieben wurde. Schlußfolgerung: Wir folgern, daß die Andersartigkeit des spezifischen Bruchpunkts, q12q21, mit dem Fehlen des als typisch geltenden partiellen Albinismus in direktem Zusammenhang steht.

The present study characterizes recovery of bile secretion after orthotopic liver transplantation (OLT) in humans with special regard to hormonal regulation of bile acid-independent bile flow by glucagon and secretin. Sixty-seven patients with an uncomplicated postoperative course were studied during the first 3 weeks after OLT to determine normalization of bile flow. A group of 7 and 10 patients, respectively, underwent a biliary stimulation test by either glucagon at days 7, 14, and 21 after OLT or by secretin at days 2, 10, and 21 after OLT. Secretin tests were similarly performed in patients with acute severe rejection during the first 10 days after OLT, while glucagon tests were performed in patients with acute allograft rejection occurring 2 weeks after OLT. Furthermore, hormone effects were studied in nontransplanted patients after cholecystectomy with indwelling biliary T tube. After OLT, bile secretory function recovered and stabilized within 14 days after surgery by reconstitution of both bile acid-dependent and -independent bile flow. Two weeks after OLT, bile secretion was comparable with nontransplanted patients after cholecystectomy. Glucagon and secretin stimulated bile acid-independent bile flow in transplanted and nontransplanted patients significantly, yet secretin choleresis, unlike glucagon choleresis, had already occurred during the first days after OLT and was unaffected by acute allograft rejection. These results allow the speculation that, in humans, glucagon and secretin exert their choleretic activity by different mechanisms and/or at different anatomical sites in the liver. Assuming that secretin acts at the bile duct cells, its secretory capacity was not altered by the transplantation procedure and during moderate or severe rejection episodes, as opposed to glucagon choleresis, which most likely originates in the hepatocytes and requires an entirely reconstituted canalicular transport system after OLT.

The BRD social security system contains numerous regulations concerning the smoothness of regulating social security benefits between unemployment benefit to pension benefit. Raising the retirement age for unemployed will lead to long-term unemployment or to a decreasing pension payment in the case of early retirement. In both cases the material income situation will deteriorate. Using the regulation for people who are or will be unemployed at the age 58, it can be shown that benefits were already clearly reduced before the new regulation of 14. 2. 1996 come into effect especially for those with unemployment assistance. The political objective of reducing the extent of early retirement will be paid by the unemployed themselves.

The BRD social security system contains numerous regulations concerning the smoothness of regulating social security benefits between unemployment benefit to pension benefit. Raising the retirement age for unemployed will lead to long-term unemployment or to a decreasing pension payment in the case of early retirement. In both cases the material income situation will deteriorate. Using the regulation for people who are or will be unemployed at the age 58, it can be shown that benefits were already clearly reduced before the new regulation of 14.2. 1996 come into effect-especially for those with unemployment assistance. The political objective of reducing the extent of early retirement will be paid by the unemployed themselves.

The labour market situation for older employees has become increasingly difficult in the first half of the 1980s. The length of time spent unemployed has increased and the trend towards early retirement has intensified. New legal action aims at lowering the costs of this development for the social security system. The increased participation of the partners of collective bargaining in the problem solving process aims at a more even distribution of costs incurred, as well as at a reduction of unemployment. Action taken and agreements reached tend to restrict themselves to a limited span of time, to the foreseeable future. They influence the situation of the unemployed and prematurely retired older workers in positive as well as in negative ways.