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Biomedical subjects

W Friedl

Publications and source records attributed to W Friedl.

At least 91 records · Page 5Linked to original sources
PubMed1995

A deletion polymorphism in the angiotensin converting enzyme gene is not associated with coronary heart disease in an Austrian population.

This study examined a possible relationship between genetic variation in the gene coding for the angiotensin converting enzyme (ACE) and increased risk for coronary heart disease (CHD) in an Austrian population. Polymerase chain reaction (PCR) was used to determine the genotypes for an insertion/deletion polymorphism in intron 16 of the ACE gene in 315 patients with CHD and in 149 normal controls. In the control group, the relative allele frequencies of the polymorphism were similar to those of previously published European studies. The genotype distribution among our patients was not significantly different from that among controls. We were not able to show a significant association of the DD genotype with coronary heart disease in subgroups containing patients considered at low coronary risk. There was no association of lipid parameters and ACE genotype. From these data we conclude that, in the Austrian population, the insertion/deletion polymorphism in the ACE gene cannot be used as a marker for coronary risk assessment.

Adult↗
PubMed1995

Bone cement implantation syndrome. A prospective randomised trial for use of antihistamine blockade.

Bone cement implantation syndrome (BCIS) is characterised by hypotension, hypoxaemia, cardiac arrhythmias, cardiac arrest or any combination of these, leading to death in 0.6-1% of patients. One of the mechanisms suggested to explain these complications is diffuse microembolisation of the lungs as a consequence of extrusion of the bone marrow content by the pressurised bone cement. By reducing intramedullary pressure and changing the operative technique, BCIS can be diminished, but deaths still occur. An anaphylactoid mechanism as a major factor in BCIS is receiving renewed attention since increased plasma histamine levels were recently demonstrated after the implantation of bone cement and a prosthesis. Therefore, we conducted a prospective, randomised study to demonstrate the potential benefit of histamine-receptor-blocking agents in patients undergoing cemented hip arthroplasty. Thirty patients were divided into two groups: group 1, the control group, received no histamine-receptor-blocking agents; group 2, the antihistamine group, received H1 and H2-receptor-blocking agents in standard dosages preoperatively. Both groups were comparable concerning age, sex and physical status (ASA criteria). There was no hospital mortality in either group. Thirteen patients of group 1 demonstrated a sudden fall by more than 10% of their blood pressure, level of PaO2 or both. Fourteen patients of group 2 showed similar changes. The mean decrease of blood pressure in group 1 was 14.6 mmHg (SD 36.8) and in group 2 20.5 mmHg (SD 33.43). The difference is not significant (P = 0.65). The mean decrease of PaO2 in group 1 was 30.5 mmHg (SD 30.5) and in group 2 33.4 mmHg (SD 34.1). The difference is not significant (P = 0.81). Overall, we found even a slight disadvantage for patients receiving antihistamine drugs (statistically not significant). Therefore, histamine-receptor-blocking agents do not have a prophylactic potential in BCIS.

Bone Cements↗
PubMed1995

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463-1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445-1578. These patients lack CHRPE. Furthermore, with the exception of three prepubertal children all patients with mutations in codons 1445-1578 developed desmoid tumours. This relationship between certain extracolonic manifestations and site of the APC mutation points to a specific role of the APC protein in different tissues.

Adenomatous Polyposis Coli↗
PubMed1995

[Restorative proctocolectomy with ileoanal J-pouch in symptomatic children with familial adenomatous polyposis coli (FAP). Indications and results].

Familial adenomatous polyposis (FAP) is a genetic disorder leading to the early development of numerous polyps of the entire colorectum. First polyps usually emerge in puberty and cause symptoms in the third and fourth decade of life when a malignant transformation of the adenomas via an adenoma-carcinoma-sequence has often already occurred. Extracolonic manifestations and age of onset of the disease show a wide range of variability rendering the establishment of unequivocal standards for the timing of diagnostic, prophylactic and therapeutic modalities difficult. We report the cases of two unrelated children who presented with severe symptomatic, pancolonic polyposis already at the age of 3. Molecular diagnostics revealed a 'new mutation' in one case, the other child had a family history for FAP. Rapid progression of the disease with anemia and slight growth retardation were the indications for prophylactic surgery at the age of 7. The operative procedure performed was restorative proctocolectomy followed by an ileal pouch-anal anastomosis. Both children developed small bowel adhesions that forced us to perform an early closure of the protective ileostomy 3 weeks postoperatively. The subsequent course was uneventful. The children are now thriving and lead a normal social life. After only 3 months their stool frequency ranged between 2 and 5 times daily.

Adenomatous Polyposis Coli↗
PubMed1995

[Pathological fractures of the proximal femur end].

Bone metastases are located most frequently in cancellous bone according to the higher blood perfusion rate. In contrast, pathological fractures are most frequently found in the biomechanically highest loaded parts of the skeleton and are therefore most frequent in the proximal femur end. For definition of impending pathological fracture the Mirels Score should be used today. Because of the short life expectancy of the patients with pathological fractures caused by bone metastases immediate pain relief, function and weight bearing capacity must be achieved. In the proximal femur stabilisation can be performed with a hip tumor prosthesis or, as joint preserving device, a double plate compound osteosynthesis (DPCO). The results of 30 patients treated with hip tumor prosthesis and 30 patients treated with a DPCO of the proximal femur between 1985-1989 were compared. The local complication rate of the tumor prosthesis was significantly higher (16.6% vs 46.6%) due to 11 hip luxations seen in 7 of the 30 patients. The time of hospitalisation as well as the costs of the device are higher for the tumor prosthesis. The functional and subjective results were similar. Only in patients with very advanced carcinoma and a life expectancy under 3 months osteosynthesis without resection of the metastasis should be performed. For this indication only locked nail systems should be used today. We found the best functional results among 134 patients treated between 1982-1989 in our hospital in patients with impending pathological fractures. The functional results as well as the survival time were up to 3 times superior to those of patients with occurred pathological fractures.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

[Contribution of the ophthalmologist to presymptomatic diagnosis of familial adenomatous polyposis (FAP)].

Familial adenomatous polyposis (FAP) represents a hereditary precancerous condition. Symptoms often appear malignant transformation only. For persons at risk early recognition of gene carriers is essential. Approximately 80% of the patients show congenital hypertrophy of the retinal pigment epithelium (CHRPE) that can be recognized before clinical manifestation of FAP. In order to predict FAP 9 patients and 10 persons at risk from 6 FAP families were examined by endoscopy, molecular genetical and ophthalmological methods. Four patients from two families each had bilaterally 4 CHRPE; four persons at risk did not have CHRPE. This is in accordance with endoscopic and molecular genetic results. The five patients and six persons at risk from the other four families did not have CHRPE, i.e., the percentage of CHRPE in the FAP patients examined was only 45%. Funduscopy permits early identification of gene carriers in families where the FAP patients have CHRPE. CHRPE is not present in persons at risk in these families, it is not necessary to conduct invasive diagnostic measures. Funduscopy should always be done in FAP patients and in persons at risk from CHRPE-positive families. An endoscopic examination should be recommended when CHRPE is observed incidentally in a person with a negative family history for FAP.

Adenomatous Polyposis Coli↗
PubMed1994

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

The clinical course of familial adenomatous polyposis (FAP) varies considerably between patients. Prediction of the severity of the disease is important in the interest of effective cancer prevention. We examined whether age at diagnosis of FAP due to gastrointestinal symptoms and age at death due to colorectal cancer are related to the site of mutation in the responsible gene. 225 families with FAP were screened for mutations. The deletion of 5 base pairs at codon 1309 within exon 15 (known to be the most common mutation) was identified in 20 families; other mutations within exons 7-15 were found in 49 families. In patients with the 5 base-pair deletion at codon 1309, gastrointestinal symptoms and death from colorectal cancer occurred about 10 years earlier than in patients with other mutations. The 1309 mutation leads to development of colonic polyps at a younger age, thus giving rise to an earlier malignant transformation. This relationship should be taken into account in strategies for preventing cancer in patients with FAP.

Adenomatous Polyposis Coli↗
PubMed1994

Abnormal dystrophin expression in patients with limb girdle syndromes.

Clinical differential diagnosis between Becker muscular dystrophy (BMD) and limb gridle muscular dystrophy (LGMD) may be difficult because the BMD clinical phenotype tends to overlap with other limb girdle syndromes, especially with LGMD. Therefore we studied the expression of dystrophin, the protein product of the Becker and Duchenne muscular dystrophy gene, in muscle biopsy specimens of 30 patients (18 males, of whom 15 represented spradic cases, and 12 females) diagnosed as having LGMD according to traditional clinical, electrophysiological and histological criteria. For dystrophin analysis, six different monoclonal antibodies directed against different epitopes of the dystrophin molecule were used. Immunocytochemically, five of the 30 LGMD patients (17%) showed abnormal dystrophin staining patterns diagnostic of BMD. Western blotting in these five patients, all sporadic cases, showed dystrophin of reduced size and/or abundance. Analysis of blood or muscle DNA using multiplex polymerase chain reaction revealed deletions in the dystrophin gene in three of the five. Thus, 5 of 15 (33%) sporadic male patients previously thought to have LGMD were identified as having BMD.

Adolescent↗
PubMed1994

[Effectiveness of a support screw in condylar plate osteosynthesis of the proximal femur].

In some theoretical and clinical examinations a supporting screw in condylar and other angular plate osteosyntheses devices is proposed to increase the weight bearing capacity. We examined the weight bearing of a condylar plate with "U" and double "T" blade profile with and without supporting screw. The weight bearing capacity in the condylar plate with "U" profile was 450 +/- 350 N without and 550 +/- 450 N with supporting screw. In the condylar plate groups with "double T" profile the weight bearing capacity was 1350 +/- 1250 N in the group without and 1400 +/- 1300 N in the group with supporting screw. We concluded that the introduction of a supporting screw cannot improve significantly the weight bearing capacity of condylar plate osteosynthesis.

Biomechanical Phenomena↗
PubMed1994

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the APC gene. Germ-line mutations were identified in 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis of a PCR product encompassing codons 1027-1384 of the APC gene. The most common mutations in our sample were a 5 bp deletion at codon 1309 in 9% of the families, a 5 bp deletion at codon 1061 in 5% and a 4 bp deletion at codon 1068 in 2.5% of the families. In addition, 11 novel mutations localized within the exons 11-15 of the APC gene were identified by the heteroduplex or SSCP methods.

Adenomatous Polyposis Coli↗
PubMed1994

[Gamma nail osteosynthesis of per- and subtrochanteric femoral fractures. 4 years experiences and their consequences for further implant development].

The Gamma nail can be used in all types of per- and subtrochanteric fractures because of its biomechanical characteristics. In this prospective evaluation of our 330 patients treated between November 1989 and November 1993 the usefulness of the Gamma nail for the osteosynthesis of all types of fracture was evaluated. The rate of intraoperative and postoperative complications but also gait function, postoperative weight bearing, general complications, and survival were analysed. We compared the results of four therapy periods to evaluate the importance of the expertise of the surgeon and the 'learning curve'. The Gamma nail osteosynthesis was performed in 72-98% in unstable per- and subtrochanteric fractures. The nail diameters used shifted to the 12 mm nail (99%) and the 130 degrees angle (93%) in the fourth examination period. The intraoperative complication rate is highly dependent from the expertise of the surgeon and the experience with the system. The rate decreased from 42.2% in the first to 17.2% in the fourth examination period. The most important complications were: additional fractures (1.7%), distal locking screw problems (7%), femoral head rotation (2,4%), and not sufficient fracture reduction (4.1%). Whereas in general these did not influence the postoperative management the use of a too short femoral neck screw lead to instability. Postoperative local complications were: rotation of the femoral head and neck (0.6-5.5%), related to the gliding of the neck screw (0.6-4%), fracture at the end of the nail (1.8-4%), fatigue break of the nail (1 case) and hematoma (1.2-8.3%). In all these cases reoperation was needed. To reduce the rate of intra- and postoperative complications a new gliding nail (GN) is presented. Due to the double T-profile of the femoral neck blade the implant is stable for neck rotation. The blade has a collar which makes it impossible to implant the blade to deep in the femoral neck. The larger nail profile at the femoral neck perforation reduces the risk of implant failure. The implant can be used as dynamic compression as well as static implant both in the direction of femoral neck and shaft.

Aged↗
PubMed1994

[PDS cord fixation of sternoclavicular dislocation and para-articular clavicular fractures].

Sternoclavicular joint dislocation and para-articular fractures of the clavicle are rare injuries. Because severe complications of dorsal dislocations have often been seen and because functional impairment has often followed ventral dislocations, we treat most patients with such injuries operatively. Internal fixation with K-wires frequently leads to severe complications. We present our operation techniques with a resorbable 2 mm polydioxanon cord. This pack up technique can be used in both dislocations and para-articular fractures with no risk of implant dislocation.

Clavicle↗
PubMed1993

[Progress in molecular genetic diagnosis].

The most frequent monogenically inherited disorders and an increasing number of rare monogenic disorders are already mapped, and the genetic defect leading to the disease was in part of the genes identified. Thus, detection of carriers of different disorders becomes possible by indirect or direct genotype analysis. The introduction of new analytical methods, e.g. polymerase chain reaction (PCR) and microsatellites permits a faster and safer diagnosis and in addition, a smaller amount of biological material is necessary. The identification of genes that are mutated in different inherited malignancies improves cancer prevention strategies in these families. A new class of gene defects--the "dynamic" mutations--consisting in the expansion of trinucleotid repeats within disease genes was identified in several disorders (e.g. fragile X-Syndrome, Huntington's disease, myotonic dystrophy); expanding trinucleotid repeats may explain some problems regarding the mode of inheritance and anticipation observed in these disorders, that were so far not understood. For studies of complex genetic disorders several new approaches were developed, however, so far they cannot be used for diagnostic purposes.

DNA Mutational Analysis↗
PubMed1993

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

A large inbred kindred from Pakistan in which an isolated type of split-hand/split-foot anomaly is transmitted as an X-chromosomal trait has previously been described. An X/autosomal translocation and an X-chromosomal rearrangement have been excluded by cytogenetic studies. In order to map the gene responsible for this disorder, linkage analysis has been performed by using 14 highly polymorphic DNA markers distributed over the whole X chromosome. Two-point linkage analysis between the disease locus and X-chromosomal marker loci gives maximal lod scores at theta = 0.00 with the loci DXS294 (Zmax = 5.13) and HPRT (Zmax = 4.43), respectively, suggesting that the gene for the X-chromosomal split-hand/split-foot anomaly is localized at Xq26-q26.1.

Chromosome Mapping↗
PubMed1993

Relevance of osteotomy and implant characteristics in inter- and subtrochanteric osteotomies. Experimental examination under alternating and static load after stabilisation with different devices including gamma nail osteosynthesis.

The purpose of this experimental examination was to determine the load-bearing capacity (LBC) of different inter- and subtrochanteric fractures under alternating physiological and static loads. These fractures are typical injuries of the geriatric patient, and full LBC restoration is needed for mobilisation. From patients over 60 years old at the time of death, 301 femora were obtained and randomly allocated to the following osteotomy (OT) groups: A1, flat and steep OT; A2, OT with 2/3 and complete medial cortical defect; reversed inter- (A3) and subtrochanteric OT; subtrochanteric resection and double plate compound osteosynthesis (DPCO); and the control group (no OT). Following osteosynthesis various devices were tested: condylar plate, 130 degrees angle nail plate, 145 degrees angle nail plate, double T profile angle nail plate, 135 degrees DHS, 150 degrees DHS after valgisating displacement OT, Ender nails, gamma nail and Orthofix external fixator. The femora were tested under alternating physiological load and under static load. The load-bearing capacity (LBC) was 5141 +/- 1621 N in flat A1 OT, 4501 +/- 1621 N in steep A1 OT and 3767 +/- 1500 N in A2 OT with partial defect. In reversed intertrochanteric OT the LBC was 3770 +/- 1798 N and in the reversed subtrochanteric OT, 5308 +/- 2330 N. In A2 OT with complete medial defect, only the gamma nail (5672 +/- 726 N) and the DHS after valgisating displacement OT (7261 +/- 1794 N) showed a high LBC and no alternating load instability. After subtrochanteric resection and DPCO (7415 +/- 1840 N) the LBC was the same as that of the control femora (7271 +/- 1941 N).(ABSTRACT TRUNCATED AT 250 WORDS)

Biomechanical Phenomena↗