Bedeutung molekular-zytogenetischer Befunde bei Speicheldrüsentumoren am Beispiel des Mukoepidermoidkarzinoms

Chromosomentranslokationen in Tumoren führen nicht selten zur Ausbildung von Fusionsgenen, die für Proteine mit onkogenen Eigenschaften codieren können. Mukoepidermoidkarzinome sind charakterisiert durch eine Translokation t(11;19), die in 60% der untersuchten Tumoren vorkommt. Diese chromosomale Umlagerung führt zu einem Fusionsgen, das aus dem Exon 1 des MECT 1-Gens und den Exons 2–5 des MAML 2-Gens zusammengesetzt ist. In der Folge bildet sich ein Fusionstranskript, wodurch unabhängig von Notch-Liganden eine Aktivierung der Transkription von HES 1, einem Notch-Zielgen, erfolgt. Durch die veränderte Funktion von MAML 2 kommt es zur Unterbrechung des NOTCH-Signaltransduktionsweges, was einen neuen Mechanismus in der Tumorgenese vermuten lässt. Der Nachweis der Translokation mittels FISH und/oder RT-PCR könnte von erheblichem diagnostischem und möglicherweise auch prognostischem Interesse sein. Zuvor müssen allerdings die molekularen Ereignisse, die einem scheinbar identischen chromosomalen Rearrangement in Warthin-Tumoren zugrunde liegen, geklärt werden. Warthin-Tumoren sind gutartige Speicheldrüsentumoren mit einer vom Mukoepidermoidkarzinom abweichenden Histomorphologie und Histogenese.     

Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage.

A young patient had an auriculo-ventricular block and a distal myopathy with muscle biopsy findings suggestive of inclusion body myositis. What was most unusual was the presence of numerous sarcoplasmic bodies identified as desmin by electron microscopy and immunocytochemistry. The nosological situation of this condition is discussed.     

The influence of the helmet respirator on peak flow rate in aluminum potroom

The efficiency of the Racal Airstream helmet respirator in improving peak expiratory flow rates (PEFR) and symptoms (dyspnea, wheezing, and cough) in aluminum potroom workers with respiratory complaints was assessed in 19 workers. Peak expiratory flow readings and symptom recording from a 2-week working period with use of the respirator were compared with a period when the 3M 9906 disposable mask was used. The study was designed as a randomized, parallel, cross-over study with five or six daily measurements of PEFR and daily symptom recording. A significant number of workers (15) had a higher mean peak flow in the helmet period than in the nonhelmet period (p less than 0.01); symptoms did not improve significantly in the helmet period. Objective evidence of respiratory protection was observed for the group of workers as a whole, but the effect on symptoms as well as individual effect on peak flow was minor in the majority of the workers.     

Digoxin-like factor in infants of diabetic mothers not receiving digoxin therapy

Serum digoxin-like factor was detected in infants of diabetic mothers who were insulin-dependent or diet controlled. No statistical difference was found between the serum digoxin-like factor levels of the infants of diabetic mothers and the controls.     

Do we need in-patient units for child and adolescent psychiatry? Data on administrative incidence from 1980-1984 from Vorarlberg/Austria

The question of the necessity of in-patient facilities of the area of (child and) adolescent neuropsychiatry is to be discussed further. The extremely optimistic views on this question of approximately 20 years ago cannot be maintained for the examined area and the examination time. In the LNKH Valduna/Vorarlberg, an establishment that was intended exclusively for adults until 1987, from 1980-1984 (evaluated in detail) and from 1984-1987 a further 60 minors were admitted. The exact evaluation shows that the conspicuousnesses of behaviour of a main group was so clear each time that it could not be treated elsewhere and certainly not in outpatient facilities. In the examined group the amount of patients with behaviour and socialization disorders outweighed by far the psychoses, also a high percentage of patients was multi morbid and/or had multiple handicaps. The resulting conclusion seems to us to be the necessity of setting-up a specific in-patients treatment unit for this group of patients with sufficient infrastructure.     

Fine structure of surviving heart muscle cells in ventricular aneurysms

Surgically-obtained tissue specimens from 41 patients with ventricular aneurysm were studied electron microscopically. The tissue from the resected aneurysms showed substantially varied morphological differences. In some, there were extensive regions of scar containing increased fibrotic material and few cells, in others there were also larger contiguous regions of myocardium with an essentially normal appearance. In the preserved myocardial regions, the cardiac cells showed moderate hypertrophy. There was an increase in contractile substance in parallel with an increase in mitochondria and enlargement of the nucleus with frequent waves and invaginations in the cell membrane. The cells at the marginal regions between fibrous tissue and preserved myocardium were frequently isolated from adjacent cells. In particular, when the isolated cells were completely surrounded by fibrous tissue, clear degeneration was apparent. These cells showed mainly a fibrillolysis with dissolution of the cross-bands and loss of the entire contractile apparatus. In compensation, occasionally there was proliferation of other cell structures, especially the free sarcoplasmatic reticulum. The hypertrophy of the still intact myocardial cells is considered compensatory for the infarct-incurred loss of tissue. The degenerative appearance is mainly attributable to fibrous tissue invasion. The diminished oxygen supply, compromised or abolished impulse conduction, loss of function and passive stretch during systole may be regarded as causes of the degeneration.