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Biomedical subjects

U Friedrich

Publications and source records attributed to U Friedrich.

At least 19 recordsLinked to original sources
PubMed1992

X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect.

A new large Danish family with X-linked retinitis pigmentosa was studied for linkage analysis. Carrier diagnosis was performed using full-field electro-retinogram combined with a careful fundus examination. Multipoint linkage analysis, employing DNA markers from the proximal short arm of the X chromosome and the cytogenetic centromere marker, revealed the highest location score distally to DXS255 and proximal to the ornithine carbamoyl transferase locus. In comparison with the first Danish family that we studied, the pericentromeric recombination fraction was increased; it is speculated that the observed difference in genetic distances from the centromere in the 2 Danish families is correlated with a difference in the size and location of the centromeric heterochromatin.

Adult↗
PubMed1992

Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization.

We characterized 21 t(13;14) and 3 t(14;21) Robertsonian translocations for the presence of DNA derived from the short arms of the translocated acrocentric chromosomes and identified their centromeres. Nineteen of these 24 translocation carriers were unrelated. Using centromeric alpha-repeat DNA as chromosome-specific probe, we found by in situ hybridization that all 24 translocation chromosomes were dicentric. The chromatin between the two centomeres did not stain with silver, and no hybridization signal was detected with probes for rDNA or beta-satellite DNA that flank the distal and proximal ends of the rDNA region on the short arm of the acrocentrics. By contrast, all 24 translocation chromosomes gave a distinct hybridization signal when satellite III DNA was used as probe. This result strongly suggests that the chromosomal rearrangements leading to Robertsonian translocations occur preferentially in satellite III DNA. We hypothesize that guanine-rich satellite III repeats may promote chromosomal recombination by formation of tetraplex structures. The findings localize satellite III DNA to the short arm of the acrocentric chromosomes distal to centromeric alpha-repeat DNA and proximal to beta-satellite DNA.

Centromere↗
PubMed1992

Campomelic dysplasia without overt campomelia.

We describe a newborn girl with virtually all the characteristics of campomelic dysplasia except for overt campomelia. This observation and similar cases previously reported indicate that campomelia is a variable feature in campomelic dysplasia. In contrast, hypoplasia of the scapulae is a constant finding and should be regarded as a diagnostic significant sign.

Bone Diseases, Developmental↗
PubMed1991

[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↗
PubMed1991

[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↗
PubMed1991

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↗
PubMed1990

[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↗
PubMed1990

[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↗
PubMed1989

[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↗
PubMed1989

[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↗
PubMed1986

Induction and characterization of antisera against terminal and internal peptides of SV40 large T antigen.

Thirteen synthetic peptides corresponding to different regions of the SV40 large T antigen were used as immunogens after coupling to a carrier protein. All peptide conjugates elicited sera that recognized the inducing peptide. In 10 cases the corresponding sites in the native large T antigen also were recognized, as determined by immunoprecipitation. The degree of recognition of the native protein varied between 0.5 and 80%, the most reactive sera being those induced by the terminal peptides. The ability of internal peptides to induce antibodies reactive with native large T antigen appeared to be correlated with peptide hydrophilicity and possibly atomic mobility. No such correlation was apparent with predicted features of secondary structure. The influence of peptide length on induction of protein-recognizing antisera will also be discussed.

Amino Acid Sequence↗
PubMed1979

Partial trisomy 1q syndrome.

Six cases of partial trisomy 1q, including four cases from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy 1q.

Abnormalities, Multiple↗