Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

Combined coagulation factor VII (FVII) and factor X (FX) deficiency (combined FVII/FX deficiency) belongs to the group of bleeding disorders in which both factors show reduced plasma activity. It may arise from coincidental inheritance of separate coagulation factor deficiencies or a common cause as large deletions comprising both gene loci. The F7 and F10 genes are located on the long arm of chromosome 13. Here, we describe 10 cases with combined FVII/FX deficiency representing both genetic mechanisms of occurrence. Genetic analyses included direct sequencing of the F7 and F10 genes and MLPA (multiplex ligation-dependent probe amplification) for detection of heterozygous large deletions. In four patients, the combined deficiency was due to a large deletion within the terminal end of chromosome 13. In the remaining six cases the deficiency resulted from coincidental inheritance of different genetic alterations affecting both genes independently. In most cases, the genetic defects were heterozygous, presenting with prolonged PT, normal aPTT and mild or no bleeding symptoms. Only in one case compound heterozygous mutations were detected in the F10, resulting in prolonged aPTT and a more severe bleeding phenotype. To avoid a misdiagnosis of combined FVII/FX deficiency, analyses of single factor activities have to be performed in all cases with prolonged PT even if aPTT is normal. Genetic analyses are substantial for correct prediction of an inheritance pattern and a proper genetic counselling.

[The effect of the Finnish dry sauna on bronchial asthma in childhood]. / Der Einfluss der Finnischen Trockensauna auf Asthma bronchiale im Kindesalter.

More than 400,000 sauna baths have been built in Germany. Frequently, children with bronchial asthma and their parents raise the question whether sauna bathing might be hazardous for the lungs. In present study the effects of sauna bathing on the ventilation have been evaluated by use of peak-flow meters. Only one 12-years old girl suffered an attack of bronchial asthma while using a cold shower, probably as a result of breathing cold air. No other complications have been observed. Sauna bathing can be recommended for children with bronchial asthma, since advantages in the resistance against infections and in psychosocial development can be expected.

[Treatment of spontaneous pneumothorax from the pulmonary internal medicine viewpoint]. / Die Behandlung des Spontanpneumothorax aus pulmologisch-internistischer Sicht.

We made a retrospective analysis with regard to the therapy of all patients with spontaneous pneumothorax who were treated in the district lung hospital Lostau from 1. 1. 1983 to 30. 6. 1985. We waited for the spontaneous regression at 10 patients with a partial pneumothorax, the relapse rate was 30% in these cases. Sixty three patients were aspirated once or repeatedly with the pneumothorax apparatus. Our own success rate was 78% with this therapy, the relapse rate 26%. We treated 18 patients by rubber-tube drain. It was successful in 94%, the relapse rate was 19%. A thoracoscopy with pleurodesis was necessary in one patient who was generally inoperable. Five patients were treated primarily surgically. The same therapy was carried out in 6 patients with bullous emphysema in the free period. We consider the aspiration of spontaneous pneumothorax with pneumothorax apparatus as an effective method, which is not very burden some for the patients. The continuous suction drainage was very important too in the differential therapy of our patients.

[Comparative studies on premedication and general anesthesia for endoscopies of the upper airways]. / Vergleichende Untersuchungen zur Prämedikation und Allgemeinanästhesie für Endoskopien der oberen Atemwege.

Cardiovascular disorders during endoscopy of the upper respiratory tract have since long induced anaesthetists and laryngologists to find a suitable anaesthetic procedure. It was the purpose of the present study to determine the influence exerted by different kinds of premedication and different modes of anaesthesia on the cardiovascular system, pO2, and the acid-base status. The results obtained show that a hypertensive-tachycardiac response to direct laryngo-tracheoscopy could not be prevented in any of the groups under investigation. Lowest blood pressure and heart rate increases were seen in those groups of patients which received an analgetic drug (Fentanyl or nitrous oxide) in addition to hexobarbital. During endoscopy, respiratory acidosis occurred in five groups of patients. All patients were sufficiently oxygenated.

[Aspired foreign body in adulthood]. / Der aspirierte Fremdkörper im Erwachsenenalter.

This is an analysis of the removal of tracheobronchial foreign bodies in a hospital for lung diseases in the last twenty years. On clinical, radiological and endoscopical data the localization of the foreign bodies is reported. The bronchological examinations for the removal of foreign bodies were performed under general anaesthesia using a rigid bronchoscope.

[Transthoracic puncture biopsy (author's transl)]. / Perthorakale Lungenpunktionsbiopsie.

917 patients with intrapulmonary lesions were studied by transthoracic needle biopsy. 460 cases in which both the puncture technique (general anaesthesia with artificial ventilation using a CARLENS' doublelumen catheter, puncture under X-ray amplifier-TV-guidance) and the control measures (fluoroscopy immediately performed after the puncture biopsy X-ray film 24 hours later) in accordance were analysed. The diagnostic yield was 72.5% in disseminated lung lesions using HAUSSER'S split needle. In localized coinlike lesions there was a positive diagnostic rate of 72.6%. The complication rate in these two groups was 63% and 54.8% respectively (p > 0.05). The authors use the transthoracic puncture biopsy in relation to the roentgenologic appearance and to the localization of the pathologic structures. They decline to perform the transthoracic puncture biopsy as a bed side method.

[Biochemical and immunological examinations in patients with lung diseases under particular consideration of bronchial carcinoma (author's transl)]. / Biochemische und immunologische Untersuchungen bei Lungenpatienten unter besonderer Berücksichtigung des Bronchialkarzinoms.

The diagnosis, judgment of stages and check of the course especially malignant lung diseases are further problematic. Tumourspecific laboratory tests don't exist absolutely, however the content of information of methods with a relatively high statement should be fully used. In serum of tumour patients was determined the enzymes LDH, Alpha-HBDH, ALD and AP; LDH and HBDH showed pathological activities most frequently with the highest share of abnormal values by small-cell carcinoma. Aldolase and AP values was preferential increased at late tumour stages. The mean concentrations of the immunoglobulins G, A and M were exclusive in the normal range, the decreased IgM-level found in 15% of tumour patients is remarkable. --Above all the common determination of LDH, AP and ALD is considered as useful.

[Spontaneous pneumothorax as an urgent internal problem]. / Der Spontanpneumothorax als dringliches internistisches Problem

92 cases of pneumothorax of the clinic for lung diseases Lostau and 35 cases from 9 county hospitals of the district Magdeburg were analysed. In the two groups a vast correspondence of the following data was found: average age of the patients (40.0 or 46.2 years), duration of stay in the ward (25.3/23.5 days), as urgent cases 11 or 8 patients, respectively, were hospitalised. Only in 5% of all cases a treatment on the conditions of an intensive therapy unit was necessary. Apart from the clinical and radiological basal diagnostics a measurement of the interpleural pressure by means of the pneumothorax apparatus is demanded. These values form the basis for a differentiated therapy of the pneumothorax: conservative attitude with sedation of cough of the patient in minimal pneumothoraces; withdrawal by means of the pneumothorax apparatus in more severe lung collapse, appearances of tension, lacking tendency to re-expansion of the lung after 3 days' conservative-medicamentous therapy; rubber-tube drainage when the withdrawal by means of the pneumothorax apparatus was ineffective for three times; surgical therapy when a 7 to 10 days' rubber-tube drainage was without success.