Biomedical subjects
Publications and source records attributed to E Engel.
The observation of a progressive bulbar paralysis with lethal exit in a 20 years old patient, whose mother had died in the age of 29 years after a similar course of disease, is coordinated as Fazio: Londe-disease. But peculiarities are mentioned, that refer to traits of the special form of progressive bulbar paralysis described by Kennedy and of Kugelberg-Welander-disease. A genetic basis of variability is supposed.
Two brothers are described with a severe syndrome of postnatal growth and mental retardation which includes extreme microcephaly, obesity developing during infancy, microgonadismsm, and a characteristic amphora-shaped facies. The neurological exam is highly abnormal, with hypertonia and hyperreflexia, nystagmus, and an extremely irritable and agitated behavior. The first child, who died at 4/1/2 years, also presented neonatal hypoglycemia and chronic constipation. Although the etiology of this syndrome is unknown, it is tempting to consider an X-linked recessive gene, given the importance of the X chromosome in mental retardation. Among the over 70 syndromes of X-linked mental retardation already described, our patients resemble individuals with the Börjeson-Forssman-Lehmann (BFL) syndrome the most. However, the severity of their dwarfism and mental retardation is much greater than described in any BFL patient to date, and the neurological and dysmorphic features vary significantly from those described in the BFL. Although a particularly severe variant, perhaps allelic, is a possibility, an as yet undescribed disorder is also plausible, the etiology of which would probably be recessive, either autosomal or X-linked.
As of December 1, 1988, we had, as part of our prenatal diagnostic service, studied 458 transcervical chorionic villus biopsies. Three-fourths of these samples were taken because of advanced maternal age (greater than or equal to 35 years), whereas nearly one fifth were done to alleviate parental anxiety. The remainder were performed because of a precedent chromosomal anomaly in child or parent, to determine fetal sex in the case of X-linked familial disorders, or to obtain DNA for molecular analyses. Among the cytogenetic anomalies detected after 24 to 48 hours of culture, eight involved classical trisomies. In four other instances the chromosomal abnormalities were more difficult to interpret (mosaic trisomies 10, 13 and 15, an apparently uniform trisomy 7). All four were revealed to be "false positives", since neither the amniocenteses nor the karyotypes of the normal newborns (one pregnancy is still ongoing) confirmed an abnormal karyotype. In the case of the trisomy 7 we were able, after birth of the baby, to study two placental biopsies, one of which revealed an abnormality distinct from that detected in the chorionic villi. The observations concerning a fifth false positive are more worrisome, as an apparently uniform trisomy 18, with a fetus showing growth retardation on ultrasound, could not be confirmed in the abortus. Otherwise, we have not encountered a false negative result. In this article we discuss the mechanisms potentially responsible for the cytogenetic discrepancies sometimes observed between fetal and placental tissues. Molecular analyses may help to establish whether a chromosomal anomaly present in fetal chorionic villi had its origin in the pre- or post-zygotic stage; in the latter case the aneuploidy may be uniquely extrafetal.
In 11 departments of gynaecology 2,700 patients with legal abortions had been as well in 1976 as in 1981 and 1,800 ones in 1987. The following results could be found: The average age decreased from 28.3 to 27.3 years and the portion of patients below 18 years increased from 6% to 8%. The portion of pupils, apprentices and students increased from 10% to 14%. 80% respectively 77% the women had born children previously. 33% respectively 38% of these women later on ant to have children yet. The portion of repeated artificial abortions increased from 16% to 35%. Motivations of artificial abortions changed only a little bit. The following motives were the main ones: Realized wish to children, age of the woman, inconvenient intervals of the born children and general familiar aspects. The hitherto existing use of hormonal contraception increased from 39% to 97%. Aspects of possible health damages and aspects of indifference were the main explanations of the non-use of hormonal contraception. 96% of the women intend to use one form of contraception (67% hormonal contraception, 15% IUD and 14% classic methods) in future. The main tasks to restrict the numbers of artificial abortions are: --Improvement of sexual-ethical education of the children an teenagers to responsible partnership.(ABSTRACT TRUNCATED AT 250 WORDS)
A girl was born with anotia, facial palsy and cardiac malformations. Her case is compared with three other similar ones described in the literature, and the question is raised as to whether this is a new clinical entity or represents a variation of Goldenhar syndrome.
Based on compared GDR-representative studies in 11 hospitals for gynaecology in the years 1976, 1981 and 1987 altogether 7.200 induced-terminations patients were asked about motivations and social factors of artificial abortion and used contraception. Results of interviews from 1.146 induced-termination patients younger then 20 years are given. Proceed from results propositions are leading away reduction the numbers of artificial abortions from young women.
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Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, +20, -2, -21, +t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta.
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In a search for consistent cytogenetic alterations in testicular germ cell cancers we have thus far studied some twenty surgical specimens of seminomas and nonseminomatous tumours. From the literature and our results it is now clear that such testicular tumours generally have a hyperdiploid to hypotriploid chromosomal content, and frequently possess a possibly site-specific chromosomal marker, an isochromosome 12p. A significant correlation between the presence of the i(12p) and advanced clinical stages has been revealed in our study. Several other chromosomal regions are consistently involved in cytogenetic changes: 1p and 1q, 6q, 7p, 9q, 12p, 17q, and 22q. Although there is little doubt that characteristic chromosomal lesions exist in testicular germ cell tumours, the impact which specific lesions may have on tumour progression is still unclear.
18 neurosurgical patients were given 15 g fosfomycin at 8-hour intervals. Simultaneously serum and cerebrospinal fluid (CSF) concentrations were determined periodically over 8 hrs. In patients with noninflamed meninges the CSF-concentrations ranged between 6.48 and 8.98 micrograms/ml. In patients with meningitis the CSF-levels amounted to 20.28 and 39.80 micrograms/ml. For perioperative short-time prophylaxis and postoperative infections in neurosurgical patients therapeutically relevant fosfomycin levels against Staph. aureus und Staph. epidermidis can be achieved.
In 173 women less than 50 years of age with myocardial infarction, angiographic evidence of coronary sclerosis was observed in only 108 (62%). Completely normal coronary arteries were found in 15 patients (9%) and in 50 patients (29%) an isolated poorly delineated stenosis was found in the presence of otherwise completely normal coronary arteries. Of the 65 patients with myocardial infarction but without typical coronary sclerosis, 47 (72%) were taking oral contraceptives at the time of infarction. In 60% of the oral contraceptive users with infarction, angiographically, there was no evidence of typical coronary sclerosis. With the exception of cigarette smoking, the number of atherogenic risk factors in these patients was low such that myocardial infarction during treatment with oral contraceptives may possibly represent a separate disease entity distinguishable from coronary sclerosis. In support of this, in some cases, repeat angiography demonstrated spontaneous regression of the isolated stenosis. Etiologically, possible thromboembolic vascular occlusion has been assumed. In women in the premenopausal years, coronary sclerosis is uncommon and usually associated with a substantial number of atherogenic risk factors. In this case, 29% of the women had used oral contraceptives, the causal role of which remains uncertain. Even though oral contraceptive use is associated with a higher risk of myocardial infarction, apparently, it cannot be regarded as a typical atherogenic risk factor.
Based on 5 years of cytogenetic evaluation in hematology, we report our observations on various hematologic proliferative disorders with ring chromosomes. Comparing our data to those previously published in the literature we analyzed the occurrence of the ring in relation to the age of onset, previous history of therapeutic or professional exposure to mutagenic agents, and mean survival. It is concluded that the presence of ring chromosomes may be linked to a poor prognosis.
Ecological theory asserts that the Ames' distorted room illusion (DRI) occurs as a result of the artificial restriction of information pickup. According to Gibson (1966, 1979), the illusion is eliminated when binocular vision and/or head movement are allowed. In Experiment 1, to measure the DRI, we used a size-matching technique employing discs placed within an Ames' distorted room. One hundred forty-four subjects viewed the distorted room or a control apparatus under four different viewing conditions (i.e., restricted or unrestricted head movement), using monocular and binocular vision. In Experiment 2, subjects viewed binocularly and were instructed to move freely while making judgments. Overall, the main findings of this study were that the DRI decreased with increases in viewing access and that the DRI persisted under all viewing conditions. The persistence of the illusion was felt to contradict Gibson's position.
Investigation of nucleolus organizer regions (NORs) in hematopoietic malignancies has indicated that the distribution and rearrangement of these regions may be more important in malignant tissues than is their number. In one of the few studies thus far reported on NORs in human solid tumors, we describe here Ag-NORs in a group of human testicular germ-cell tumors and the corresponding patients. Four of seven malignancies demonstrated consistent ectopic NORs; explanations could include chromosomal rearrangement (insertion?) or derepression of preexisting inactive NORs.
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Three cases of ring G chromosome diagnosed by amniocentesis are reported. In two instances there was paternal transmission of a ring (one r21 and one r22) without clinical manifestation in the fathers, and the two babies resulting from these pregnancies were normal at birth. In the third case, in which a de novo ring 22 was observed in association with IUGR and oligoamnios, the fetus was aborted. The variable phenotypic effects of ring G chromosomes, as well as several aspects of genetic counseling are discussed.