[Genetic causes of malformations in man].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to W Lenz.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We may distinguish an ophthalmomyiasis externa (fly larvae in the outer eye) and an ophthalmomyiasis interna (entry of fly larvae into the eye). While the first usually takes a mild course (conjunctivitis) the latter nearly always leads to loss of the sight. Besides three cases of O. externa the mechanical irritating effect of the larva Oestrus ovis Lin. (stage I) on the basis of scanning electron microscopic pictures is discussed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Campomelia is a clearcut syndrome showing angulation of femora and tibiae, hypoplastic fibulae, short distal phalanges of the fingers, and cleft palate. The cause is unknown. Familial occurrence has been observed but less often than expected on the basis of autosomal recessive inheritance. There is an apparent excess of cases in females, but female patients may have a male 46, XY caryotype. HY-antigen is lacking in these cases.
The colonization of a surgical intensive care unit with Staphylococcus aureus was studied over a period of 16 withdrawal days. During this survey samples were taken from medical and nursing staff, patients and their inaminate environment. To make statements about the potential sources and routes of transmission of Staph. aureus we investigated the resistance situation (18 tested chemotherapeutical agents) and phage lysis patterns of about 100 isolates. By means of different examples could be demonstrated that identical resistance patterns may lead to false epidemiological conclusions. Only the use of phage pattern analysis seems to enable well-founded hints.
ROC (receiver operating characteristics) curves taken from the results obtained in evaluating the performance of ten different viewers with different experience in the interpretation of 120 xeromammograms and 120 conventional film mammograms each, serve as a basis to discuss the value of ROC-analysis in evaluating and improving the interpretation skill of individuals reading radiographs.
Analysing preliminary results of percutaneous radiotherapy on 79 patients with localized prostatic carcinoma, the uncorrected five-year survival rate of all patients was 67.3%, that in stage O, A and B 89.5% and that of patients in stage C and D 64.5%. The tumour-free five-year survival rate of all patients was 50.2%. In three patients there was a recurrence (4%), in four others severe side-effects (5%). There were no fatal complications. Radiotherapy can be considered to be an alternative to operation even when the tumour is limited to the prostate.
The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of some fingers to complete absence of an extremity. In addition, ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera are found. In some cases, ipsilateral punctate epiphyseal calcifications have been observed. Two further cases of this syndrome are reported, and a review of 18 previous observations is presented. The ratio of females to males is 19 : 1. Apparently, the CHILD syndrome is genetically determined. Arguments are presented in favor of the hypothesis that the conditions is due to an X-linked dominant gene lethal in hemizygous males.
Monodactyly is a sign of at least 3 different types of autosomal dominant ectrodactyly. In the first type only the 1st and the 5th or only the 5th toes are present on both feet. The trait is fully expressed in all affected children of patients. No skipping of a generation has been observed. Both parents of several affected children may be normal, or one parent may show minor manifestations only. Single strand mutation is suggested as an explanation of these exceptional cases. Monodactyly is seen less frequently in the second type, ectrodactyly, ectodermal dysplasia and cleft lip and palate (the EEC syndrome), than in the first type. The limb defects are more variable. The third type of ectrodactyly shows extreme intrafamilial variability, comprising various degrees of ectrodactyly, monodactyly and adactyly, defects of the ulna and/or of the tibia. Minor manifestations often occur in affected children of patients. Skipping of a generation is not uncommon.
Explore the source record for details and available documents.
The majority of cases of limb deficiencies are sporadic with no recurrence risk. This is particularly true for terminal transverse defects. Some terminal transverse defects, such as acheiropody, however, are part of genetic syndromes. There is a variety of radial defects, some of them autosomal dominant, some autosomal recessive, some due to chromosomal aberrations, and some sporadic. It is usually possible to indicate the mode of inheritance of radial defects by paying close attention to morphologic details of the limb malformation and to accompaying malformations. Most ulnar and fibular defects are sporadic, yet there are some genetic syndromes in which absence of ulna or fibula may occur. There are several domonant types of splithand-splitfoot. Classification is difficult, however, because of the great intrafamilial variability. Atypical nonhereditary splithand is usually unilateral. Most cases of unilateral total syndactyly probably belong to the same category.
Stenosis of the cervical trachea could be resected and replaced without tension, if a suitable prosthesis would be available. Postoperative stenosis of the anastomosis would be diminished by lowering the tension. In animal experiments with rabbits we succeeded in producing a tube, which was stabilised by autogenous cartilage and which has a smooth inner surface. This tube was similar to the rabbits trachea with regard to size and mechanical stability. Controlling the regeneration patterns of tracheal epithelium in rabbits there was demonstrated, that rather normal epithelium grew over scarred anastomosis by increased regeneration. The composition of an autogenous tracheal replacement tube could be the first step in reconstruction of parts of the cervical trachea.
Continuous blood gas measurement by means of indwelling intraarterial electrodes facilitates and contributes to considerably improve the monitoring of pulmonary gas exchange in intensive care and anaesthesiology. Knowledge of the behaviour of the electrode surface in the blood stream is necessary to assess the characteristics of the measuring and the possible risks or complications. Scanning electron microscopic examinations were performed in a commercial-type polarographic PO2 electrode after in vitro and in vivo application. 14 electrodes were examined after continuous intra-arterial measurements in patients with chronic obstructive pulmonary disease and in intensive care patients. Duration of intra-arterial measurements was 2-109 h. Already after a measuring period of 2 h in nearly all cases a protein film was discovered on the electrode surface. Microthrombotic deposits were seen in 2 cases, in one of these despite of treatment with heparin. The electrode membrane showed a network ofmicro-cracks, small bubbles and dents. The membrane changes were probably the result of the drying process during the electron microscopic preparation, because the membrane material (Hydron) is hydrophil and swells during the measurement. Yet it cannot be excluded that these changes occur, in part, during the measurements. From these and other studies we conclude that the intra-arterial application of this electrode has a low risk of thromboembolic complications. The deposits on the electrode surface and the membrane changes may probably affect the response time and possibly also the stability of the electrode.
The combination of pituitary and thyroid gland adenomatosis is reported in four family members of two generations. This finding of dominant inheritance is discussed with special reference to multiple familial adenomatosis, also known as Wermer's syndrome. The endocrine status including dynamic function tests is presented. It is our intention to point out that in cases of monoglandular adenomatosis clinical attention should be directed not only to anterior pituitary and thyroid gland but also to their possible incidence with tumours of the parathyroid gland and the islet cell organ.
In the examinations presented the gastric wall blood-flow of the dog was measured scintigraphically by using the gamma camera and quantitatively by making use of the microsphere method under different functional conditions. In doing so it became apparent that not only the individual functional stomach regions (corpus-antrum) but as well the individual stomach wall layers (mucosa-muscularis) can show a counter blood flow procedure. The two methods mentioned above have proved to be suitable both for the determination of the gastric wall blood flow in the individual layers and the optical reproduction of the regional blood-flow procedure.
A comparative radiographic and histological study was carried out in 126 patients with malignant and benign breast lesions. Prior to biopsy an additional film- and xeromammogram, both at oblique projection, were taken of each patient. The X-ray film was Definix Medical (Kodak), processed 5.5 minutes. The xerograms were taken with 1.5 mm aluminium total filtration, and developed by negative mode. The X-ray equipment consisted of a Senograph (CGR). The image evaluation was carried out independently by seven observers of varying experience in mammography by means of ROC-analysis. There is no loss of diagnostic information content in negative mode xeromammography, on the contrary, it seems to be slightly superior to film mammography.