Neurocristopathies and chromosome anomalies.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
U Friedrich
Publications and source records attributed to U Friedrich.
[Possibilities of clinico-cytological diagnosis in contagious equine metritis (CEM)].
Clinical, bacteriological and serological examinations on a 6 years old pony mare were performed. Cytological alterations in the genital tract were also recorded. A cellular reaction was seen after infection with T. equigenitalis. This reaction is an evidence for infection but it is not specific for this organism. Cytological studies should be performed on mares especially in cases of latent infections to complete bacteriological examination and to prevent false positive or negative results.
Animals↗
[Fetal pathology--in relation to prenatal diagnosis and genetic counseling].
The results of systematic autopsies of 29 fetuses from a consecutive material consisting of 19 late spontaneous abortions and four induced abortions from the Department of Gynaecology and Obstetrics in the Municipal Hospital in Arhus are presented. Where the spontaneous abortions were concerned, a cause of the abortion was revealed in 15 out of 19 cases (79%). Infection caused eight abortions, pathological placental conditions caused four, umbilical cord complications one case, an IUD in utero one case and severe fetal malformations one case. Serious congenital malformations were present in six out of the total number of 29 fetuses (21%). The diagnoses could be established in five cases and the risk of recurrence could be assessed. Increased fetal pathological activity in the form of systemic fetal pathological examinations will result in improved genetic counselling, more certain prenatal diagnosis and improved understanding of the pathogenesis of congenital deformities.
Abnormalities, Multiple↗
Chromosomal mosaicism: a follow-up study of 39 unselected children found at birth.
The changes of chromosomal mosaicism are examined in a sample of 39 children. A trend towards an increase in the percentage of normal cells was detected.
Adolescent↗
Construction and properties of an "artificial" spleen focus-forming virus.
The replication-defective Friend spleen focus-forming virus (F-SFFV) induces acute erythroblastosis in adult mice. The envelope-related (env) gene and LTR are the only functional elements of the viral genome. The env-coded glycoprotein gp55 has been shown to be responsible for target cell specificity and for the short latency of the disease caused by SFFV. This molecule closely resembles the env coded proteins gp70 + p15E of mink cell focus inducing viruses (MCFV). The only substantial differences between these two env genes are a large deletion spanning 585 nucleotides in the middle of the F-SFFV gene and a frameshift mutation near the 3' end leading to a modified and shortened membrane anchor in the mature protein. To determine if the large deletion and/or the frameshift mutation are capable of changing the properties of a nonpathogenic MCFV into those of an acutely pathogenic SFFV we introduced these changes into the env gene of an MCFV. The results show that the mutated MCFV is as acutely pathogenic as F-SFFV. We therefore conclude that the modified membrane anchor of gp55 and the change caused by the large deletion are the essential determinants of the high pathogenicity of SFFV.
Animals↗
Diagnostic reliability of the cytogenetic centromere heteromorphism in the human X chromosome.
The reliability of the centromere marker was tested in 22 parents and their daughters with Turner's syndrome. The segregation of the centromere marker was compared to the results found by RFLP analysis, and there was complete agreement in all 19 informative cases.
Centromere↗
[Urokinetography in the diagnosis and follow-up of obstructive uropathy in children].
With regard to different paediatric urological diseases nuclear-medical urokinetography using the tracer 99m-Tc-DTPA can identify typical functional patterns. By means of 261 investigations on 240 children, retroperistaltic waves, initial pyeloureteral and the final ureterovesical conus, dysperistaltic waves and interrupting empty strips with lacing, constrictive peristalsis can be shown in comparison with the normal anterograde "stair" pattern. Moreover, UKG as a functional method makes it possible to control the therapeutic success of antibiotics in urinary inflammations, the situation after stone discharges and application of vegetative systemic drugs. In our opinion the operative procedure and the prognosis of megaureters can be assessed. Consequently urokinetography is among the important preoperative investigations in paediatric urology and in the follow-up programme after reconstructive urological operations. Nuclear-medical isotope investigation is without significant risk and yields many diagnostic details. The method can be recommended for functional urological diagnosis in children or teenagers with high frequency of follow-up investigations or in patients with contrast medium allergy. Finally, ureter physiology can be checked in patients subjected to bone scintigraphy. Clinical research is possible via UKG without additional radiation exposure.
Child↗
[Pulmonary transfer factor for carbon monoxide (TLco) in healthy children and in children with chronic lung diseases, measured with an improved rebreathing technique].
TLco, FRC-He and IVC were tested in 86 subjects (5-29 years). 46 children were healthy, 21 patients had cystic fibrosis, 13 bronchial asthma and 6 allergic alveolitis. The test gas included 14% helium and 0.3% CO. The wash in time was 18 s, the measuring time 20 s. All children were measured at rest and in a sitting position. The rebreathing volume was 3/4 of the VC plus 300 ml additional volume. The results showed a good reproducibility. The TLco increases with age, height, weight and body surface area, the correlation with VC, FRC and TLC was better. A differentiation between healthy children and patients suffering from lung disease is possible. The clearest results were shown in the case of patients suffering from CF.
Asthma↗
[H-Y antigen and development of a testis in a girl with XY karyotype].
A phenotypical girl aged 16 years with primary amenorrhoea had an XY-karyotype and reacted positively to serologically demonstrable H-Y antigen. The left gonad was an immature testis while the right was a streak gonad with a gonadoblastoma. The value of H-Y antigen determinations in the diagnosis and choice of treatment is discussed.
Adolescent↗
[Clinically unrecognized colorectal cancers? An autopsy study].
The aim of our study was to discover pathomorphological features of clinically undetected colorectal carcinomas in autopsy material. Out of 400 colorectal carcinomas from the periods of 1960 to 1966 and 1981 to 1983 126 (32%) of all carcinomas remained clinically undetected during lifetime of the patients. In 1/3 of these cases the clinician did not suggest a malign neoplasm, in the other 2/3 a malignant neoplasm of unknown or false origin was assigned. 44% of the right-sided colon carcinomas, 36% of the left-sided colon carcinomas and 22% of the rectal carcinomas remained clinically undetected. At the time of autopsy in 10 cases (13%) a second malignant neoplasm far from the colorectal region could be demonstrated. In 104 cases (82%) the colorectal carcinoma was the cause of death. 18% of the colorectal carcinomas were an additional finding at autopsy, independent of the cause of death.
Aged↗
Unusual segregation in a family with a 11/21 translocation.
A familial 11/21 translocation is described where the proband has an unbalanced translocation and the oldest translocation carrier shows mosaicism with a partial trisomy no. 21.
Chromosomes, Human, Pair 11↗
The karyotype of the long-finned pilot whale, Globicephala melaena.
Explore the source record for details and available documents.
Animals↗
[Interventional radiology in neurosurgery--on the use of endovascular balloon occlusion].
A report is given on our experience gained in the introduction of the method of detachable microballoon catheters in the sense of the intervention neuroradiological operative technique. Twenty patients with arteriovenous angiomas, bag-like aneurysms, a carotid Sinus vernosus fistula and intracranial tumours rich in blood vessels were treated according to this method. Adjoining procedures such as embolisation are discussed.
Arteriovenous Fistula↗
Three large Danish families with a paracentric inversion in the short arm of chromosome N. 5.
A paracentric inversion in the short arm of chromosome 5 [inv(5p)] was segregating through at least four generations in three large danish families. All inversion carriers were phenotypically normal, and no adverse effects on reproduction were observed.
Chromosome Aberrations↗
DNA techniques in prenatal diagnosis and in genetic pathology.
New molecular techniques concerned with the isolation and identification of DNA fragments can be used for carrier detection and early prenatal diagnosis either by direct detection of the mutant DNA sequence or by indirect linkage studies employing RFLPs as DNA markers. Gene specific DNA probes are available already for a number of genetic disorders, such as the hemoglobinopathies, hemophilia A and B, alpha 1-antitrypsin deficiency, phenylketonuria, and chronic granulomatous disease. Coinheritance of DNA-polymorphisms can be traced, eg, for Norrie disease, myotonic dystrophy, Duchenne and Becker muscular dystrophies, and Huntington chorea. Several genes have been localized successfully to specific chromosome regions. By "walking" or "jumping" along the chromosome, it is hoped finally to reach further gene loci of interest, to analyze the molecular pathology of single gene disorders, and to find new ways for their prevention.
DNA↗
Molecular approaches to developmental genetics and pathology.
New insights into gene structure and expression and the observation that homeobox-containing genes, the t-complex, and oncogenes are expressed also in humans contribute to the understanding of normal and pathobiological mechanisms of embryonal and fetal development.
Animals↗
Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.
In seven large families with myotonic dystrophy (DM) comprising 102 individuals, linkage studies were performed employing restriction fragment length polymorphisms in the complement component 3 gene and the 19cen C banding heteromorphism as genetic markers. Three-point linkage analysis excludes DM from the 19cen-C3 segment and strongly supports its assignment to the proximal long arm of chromosome 19.
Chromosomes, Human, Pair 19↗
[Ultrastructure of the distal ureter in congenital malformations in childhood].
Ultramicroscopical examinations were performed in ten children with reflux or obstructive megaureter. Resected parts of ureters were used for investigation in connection with reconstructive procedures. Whereas in case of an obstructive megaureter an intramural and juxtavesical localised functionless narrow ureteral segment is characterised by "nexus close contacts" and dissociation of muscle cells with interposition of fibrous tissue, progredient pathonexual changes in the sense of a reversible nexus-distension and irreversible nexus-rupture were seen in megaureters with reflux. Dissociation of muscle cells is combined with typical epithelial and adventitial pathological structures. In congenital megaureter, disturbances in the electric syncytium occur in connection with nexus injury, followed by pathological innervation. Interruption of muscle autonomy and innervation in the wall structure of such congenital ureteral malformations play an ominous role in the sequence of pathogenetic factors.
Child↗