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Biomedical subjects

G Rappold

Publications and source records attributed to G Rappold.

49 records · Page 3Linked to original sources
PubMed1993

A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation.

We report the cloning of a highly conserved pseudoautosomal gene on the human sex chromosomes. A cDNA clone was selected by crosshybridization with a microdissected clone from the chromosomal subregion Xp22.3. It encodes a previously characterized member of the ADP/ATP translocase family and plays a fundamental role in cellular energy metabolism. This gene, ANT3, is located approximately 1,300 kilobases from the telomere, proximal to the pseudoautosomal gene CSF2RA, and escapes X-inactivation. Interestingly, a homologue of ANT3, ANT2, maps to Xq and is subject to X-inactivation. These genes provide the first evidence of two closely related X-chromosomal genes, which show striking differences in their X-inactivation behaviour.

Animals↗
PubMed1992

[Bilateral tibial head epiphysiolysis in somersault jumping].

We are reporting about a rare case of a bilateral epiphyseal separation of the proximal tibial epiphysis which occurred to a 16 year old male at the time of bileged take-off when somersault diving. The X-rays at admission showed a bilateral proximal tibial epiphyseal separation of Salter-Harris type I on the right side and Salter-Harris type II on the left side. Both epiphyses showed a posterior dislocation. Stable, anatomical position on both sides was achieved by closed reduction under general anaesthesia and fixed by a plaster cast for five weeks. Healing occurred in anatomical position and no redislocation or growth disturbance was observed. The treatment for such separations is usually conservative; the prognosis is very good, provided that an optimal reposition with restoration of the anatomical situation has been achieved.

Adolescent↗
PubMed1992

[Traumatic lesions of the proximal tibial epiphysis].

36 fractures of the tibia involving the proximal tibial epiphyseal cartilage were treated in 35 patients at the Accident Hospital Lorenz Böhler, Vienna over a ten-year period from 1980 to 1989. The average age at injury was 13.2 years. Most common concomitant injuries were ruptures of the ACL and/or MCL associated with meniscal lesions in type III- and IV-fractures and fractures of the fibula in type II injuries. We saw two associated aggravating problems as defined by a compartment-syndrome of the lower leg with one immediate peroneal-nerve palsy, but lesion or disruption of the popliteal artery was not observed. 26 patients were treated conservatively and nine patients had to be operated on. Long-term follow-up (means 6.4 years) was available in 28 cases. Premature epiphyseal closure was seen in three cases and one of them developed an axis angulation in the sense of genu recurvatum but operative correction was not necessary. Unsatisfactory results were stated in four cases due to their knee instability or posttraumatic painful arthrosis. There was no case of growth disturbance with axis deformation or angulation requiring surgical revision.

Adolescent↗
PubMed1992

Plating of fresh clavicular fractures: results of 122 operations.

A total of 131 fractures of the clavicle were operated on in 129 patients. There was no bony infection or infected pseudarthrosis. Four clavicles refractured after removal of the plate and five operations led to pseudarthroses which were successfully treated by reoperation. Radiological and clinical results in the majority of the re-examined patients were excellent. Indications, operative technique and causes of poor results are described.

Adolescent↗
PubMed1992

Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region.

The gene encoding one subunit of the receptor for the hemopoietic growth factor, GM-CSF, has been previously localized to the short arm of the human sex chromosomes. By pulsed-field gel electrophoresis, the precise localization of this gene, CSF2RA, within the pseudoautosomal region has been determined. The gene is located 1180 to 1300 kb from the telomere, in close proximity to the CpG island B5. The CSF2RA gene spans at least 45 kb, and a representation of most of the gene on three overlapping cosmid clones has been obtained. The exon(s) encoding the first 35 bp of cDNA sequence lies outside these cosmids. The CSF2RA gene is characterized by abundant hypervariable sequences, and a number of informative restriction fragment length polymorphisms have been defined.

Amino Acid Sequence↗
PubMed1992

Chromosomal localisation of a pseudoautosomal growth gene(s).

Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).

Abnormalities, Multiple↗
PubMed1991

Ring Y chromosome: molecular characterization by DNA probes.

A young male with a karyotype of 46,X,+ mar is described. Physical mapping of the marker chromosome by using Y-specific single-copy or moderately repeated DNA sequences as molecular probes showed that, in addition to the heterochromatic part of the Yq, a considerable portion of the euchromatin in both Yp and Yq had been lost. These findings suggest that the marker chromosome is a ring Y, for the generally accepted model of ring formation implies breakages in both chromosome arms. The clinical features of the patient correlated well with the phenotypic changes expected from the loss of genetic material from the Y.

Adolescent↗
PubMed1991

[Ender nailing of hip para-articular fractures in advanced age].

Since the introduction of the dynamic hip screw to stabilize fractures of the coxal end of the femur Endernails are being used less and less with some teams no longer using them at all. Nevertheless, the use of Endernails appears to be advantageous when the coxal end of the femur is fractured, especially in the case of osteoporotic bones and in elderly patients. We report on 61 instances in which we used Endernails on patients whose average age was 85.5 years. The infection rate of 1.6% was very low and 50 patients were fully ambulant. 19.6% of our patients died in the postoperative phase in the hospital whereas 1/3 of the patients operated died within one year. Complications in the post-operative phase were nail-gliding which occurred in 8 cases while another patient developed a pseudarthrosis in the region of the fracture. Post-operative care check-ups revealed that 7 patients suffered from a secondary dislocation of the fracture, in 4 instances leg length remained foreshortened by more than 2 cm. In one case the final position of the operated leg remained in an outside rotation. In view of the advanced age and therefore limited mobility of all the patients mentioned, adverse post-operative consequences are irrelevant.

Aged↗
PubMed1991

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

Short stature is consistently found in individuals with terminal deletions of Xp. In order to refine the localization of a putative locus affecting height, we analyzed two patients with a partial monosomy of the pseudoautosomal region at the molecular level. Eight pseudoautosomal probes were used for the genetic deletion analysis through dose evaluation. Three of them represent new markers (DXS415, DXS419, and DXS406) which were positioned on the pseudoautosomal map by pulsed field gel electrophoresis. Our data suggest that a locus affecting height maps in a region of about 1.5 Mbp, distal to the DXS406 locus and proximal to the DXS415 locus, a region which includes two CpG islands, and rule out an involvement of very distal sequences at the X/Y telomeres.

Adult↗
PubMed1984

Preparative dual-beam sorting of the human Y chromosome and in situ hybridization of cloned DNA probes.

Bivariate Hoechst/chromomycin flow karyotypes for chromosomes from a Chinese hamster-human hybrid cell line (CH-Y-VII) were established that have retained a human Y chromosome. These bivariate flow karyotypes showed the human Y chromosome to be completely separated from the peaks for the Chinese hamster chromosomes. In preparative dual-beam sorting experiments, 3 X 10(6) chromosomes were sorted from the Y peak into frozen petri dishes. An examination of Q-banded samples of sorted chromosomes revealed that 82% +/- 5% of them were human Y chromosomes. The DNA from the sorted chromosomes (approximately 250 ng) was isolated and used to establish a genomic library (vector lambda gt WES. lambda B). Three clones (YACG 45, 52, 54) of this library containing inserts of repetitive human DNA were used for chromosomal localization by means of in situ hybridization to metaphase spreads of male human lymphocytes and of CH-Y-VII cells. In all three cases, a significant binding to the human Y chromosome was observed. A more detailed study of the chromosomal distribution of sequences homologous to the insert of YACG 45 suggested the existence of minor binding sites on several human autosomes. Southern blot analysis revealed the existence of other human specific sequences without Y chromosome specificity.

Animals↗
PubMed1983

Cloning of genomic sequences from the human Y chromosome after purification by dual beam flow sorting.

Human Y chromosomes were purified by dual beam flow sorting from a human X Chinese hamster cell line retaining the Y as the only free human chromosome. DNA was extracted from the Y fraction and cloned into lambda gtWES . lambda B vector arms. More than 100 recombinant clones carrying human inserts have been characterised by Benton-Davis plaque screening and Southern blotting or in situ hybridisation. Several repetitive sequences were found to be predominantly located on the Y, whereas the majority also cross-hybridised with autosomal DNA. One repetitive clone gave a specific hybridisation signal with the X and the Y chromosome but not with autosomes. Preliminary evidence indicates that many clones contain single copy as well as repetitive sequences. However, no Y-specific single copy sequence has yet been identified.

Animals↗