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Biomedical subjects

W Friedl

Publications and source records attributed to W Friedl.

At least 109 records · Page 6Linked to original sources
PubMed1993

Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods.

Familial adenomatous polyposis (FAP) is an autosomal-dominant precancerous condition characterized by the appearance of hundreds to thousands of colorectal polyps. The responsible gene (APC) has been mapped and identified. The cancer prevention policy for persons at risk (children and sibs of FAP patients) implies an early diagnosis of the disease. A presymptomatic diagnosis allows to limit the regular rectosigmoidoscopic examination to those persons having inherited the disease gene. Presymptomatic diagnosis can be achieved by molecular genetic methods (direct and indirect genotype analysis) and by funduscopic examination of retinal pigment anomalies that are characteristic for FAP. The aim of this study was to examine the power of the molecular genetic and ophthalmologic methods for presymptomatic diagnosis in FAP. For this purpose 60 FAP families with 171 persons at risk were examined. By direct mutation analysis a presymptomatic diagnosis was achieved in 32% of the persons at risk; indirect genotype analysis was possible in 88% of the families in which more than one FAP patient was available. The ophthalmologic examination allowed a presymptomatic conclusion in 79% of the persons at risk. In no case there was a discrepancy in the results between the methods applied. The ophthalmologic presymptomatic test is useful especially in families where the index patients has a new mutation in the APC gene that has not been identified.

Adenomatous Polyposis Coli↗
PubMed1993

[Results of treatment after different surgical procedures for management of acromioclavicular joint dislocation].

Sixty-four patients underwent surgery for acromioclavicular (AC) disruption, Tossy type III, at the Department of Surgery, University of Heidelberg, between January 1983 and May 1990. Surgery consisted of a suture of the AC and coracoclavicular ligaments. Fixation of the joint was achieved with three different techniques: tension band wire with two Kirschner wires, special hook-plate (Wolter), double tension band fixation using polydioxanon (PDS) cordula. The early postoperative complication rate was higher following tension band wires (42.9%) and hook plate (58.3%) than after tension band PDS cordula (16.7%). The patients were re-examined after an average of 35.3 months. An instability of the AC joint was found in 31.8% of patients with tension band wire, 50.0% of patients with Wolter plate, and 23.8% of patients with tension band PDS cordula. The comparison of these results with those after conservative treatment, as reported in the literature, emphasizes the need for limiting surgery to young adults and athletes. The long term results of AC joint fixation are better using PDS cordula than tension band wire or hook plate. PDS cordula has the additional advantages, that dislocation and fracture of metal implants do not occur, and metal removal is avoided. Therefore, tension PDS cordula is associated with a marked reduction of the overall hospitalization period. Further improvements of results of AC joint fixation can be expected using the described technique of double tension band PDS cordula.

Acromioclavicular Joint↗
PubMed1993

[Isolated Ledderhose fibromatosis plantaris].

Plantar fibromatosis or Ledderhose syndrome has rarely been discussed in the medical literature. This clinical entity includes nodular Dupuytren-like indurations of the plantar aponeurosis. We present a case of a young man with isolated disease of his right foot and describe the clinical and pathomorphological features of this disease as well as its characteristic findings at magnetic resonance tomography. The therapy of choice is a subtotal resection of the plantar aponeurosis to prevent irreversible contractions of the toes. The prognosis following fascietomy is good.

Adult↗
PubMed1992

[The long-term prognosis of breast cancer. Retrospective study of 973 patients].

In this study the outcome after 40 years of primary breast cancer therapy was analysed. 973 patients admitted between 1943-1964 were examined. At the time of evaluation 900 (92.5%) of these patients were deceased. The mean survival time was 7.02 years. Tumor stage was the most important prognostic factor. In stage I patients after 40 years 17% of the patients were still alive. In stage II patients the prognosis was significantly worse. After 3.5 years 50% of the patients were dead. Young patients under 40 years of age showed a significantly lower survival rate during the first 5 years after therapy. The histological type did not show any influence on the outcome. In 91.5% of all patients a radical mastectomy was performed. Therefore the different operative procedures can not be compared in this study. 560 patients received postoperative adjuvant radiotherapy. Patients with radiotherapy showed a higher survival rate only during the first 5 years. After this time the survival rate of patients with radiotherapy was significantly lower. This was found already after 2 years in stage I patients. 85% of the deceased patients died with or because of breast cancer. 98.2% of breast cancer related deaths were observed during the first 10 years. After 26 years no breast cancer death was observed. Considering the 7.5% surviving patients at least 22% of the breast cancer patients did not show a breast cancer recurrence over the 40 year period. This demonstrates that the biological characteristics of breast cancer can not be explained by the theory of B. Fisher or the Halsted theory alone.

Adult↗
PubMed1992

Diagnosis and treatment of retroperitoneal hematoma in multiple trauma patients.

From 1984 to 1991 20 multiple trauma patients with pelvic fractures and retroperitoneal bleeding from pelvic vessels underwent angiographic localization and embolization of massively bleeding arterial vessels. Nine patients survived (multiple trauma index grade III, Hanover polytrauma index), three patients with very severe injuries died immediately (multiple trauma index grade IV). After successful control of bleeding by embolization, three other patients died from severe brain injuries and five patients from septic multiorgan failure. The interval to definite localization and treatment of the bleeding source was three times shorter in the group of survivors, and the amount of transfusions needed was less by a factor of three. This underlines the importance of early angiography in multiple trauma patients with pelvic fractures and persisting hemorrhage. Embolization has proven to be effective in the treatment of such injuries.

Adolescent↗
PubMed1992

[Double plate compound osteosynthesis. A procedure for primary stress-stable management of problem injuries of the subtrochanteric to supracondylar femoral area].

Full loading capacity cannot be achieved with standard implants in reversed trochanteric, subtrochanteric and supracondylar femur fractures. A full loading capacity is essential for elderly patients because a load free mobilisation is not possible and in pathological and impending pathological fractures because of the short life expectancy of these patients. On the basis of a proposal by Ganz we developed a double plate compound osteosynthesis (DPCO) with very high loading capacity for all these types of fractures. The technique is presented.

Bone Plates↗
PubMed1992

[Ultrasound assisted brachial plexus anesthesia].

Plexus brachialis anaesthesia is a common technique for hand and forearm surgery. If the distance between puncture site and plexus brachialis is to long the anaesthesia will be incomplete. If there happens a direct puncture and injection of anaesthetics in the nerves, neurological deficit can occur. Intravascular injection causes cardial complications. This problems can occur mainly in obese patients in whom the brachial artery cannot be identified well by clinical examination. In these patients we perform the plexus brachialis anaesthesia under sonographical control. For the examination we use a linear 7.5-MHz transducer. The technique is presented.

Anesthesia, Conduction↗
PubMed1992

[Simplified surgical technique and decreased radiation exposure in dorsal stabilization of spinal fractures].

The dorsal approach for reposition and stabilisation of dorsal and lumbal spine fractures is widely accepted. It is much easier for the surgeon and with lower risk for the patient. For placement of the pedicle screws 3 steps with X-ray fluoroscopy in transversal and anteroposterior direction are necessary: K-wire placement in the pedicle, drill for opening the pedicle and finally screw placement. With the use of two fluoroscopes and a central cannulated drill which is placed over the K-wire the operation gets much shorter, easier and the fluoroscopy time can be reduced significantly.

Bone Wires↗
PubMed1992

[Subjective, objective and mammographic late results following reduction mammoplasty].

Between 1969-1989 340 mammaplasty operations were performed in 172 patients. The mean weight of resected breast tissue was 704 +/- 418 g for one breast. In 18.2% more than 1000 g were resected. 1990 the patients were reexamined. Physical complains could be eliminated in nearly all mammaplasty patients. The cosmetic result at the time of evaluation was good or very good in 82% if judged by the patients and in 70% if judged by the surgeon. The assessment of the clinical examination was normal in 89% and in the mammographic examination in 80%.

Adolescent↗
PubMed1991

MASA syndrome: clinical variability and linkage analysis.

We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the Xq28 region. Analysis of published cases with hereditary spastic paraplegia (HSP), where linkage studies have been carried out, emphasizes the clinical variability in MASA syndrome and other types of HSP, thus making a definite diagnosis in single cases often impossible.

Aphasia↗
PubMed1991

Dynamic sonography in the diagnosis of ligament and meniscal injuries of the knee.

A total of 84 patients with ligament or meniscal injuries of the knee was prospectively examined clinically and under anaesthesia, by arthroscopy and sonography. The sensitivity, specificity, positive and negative predictive values were compared. For sonography a high resolution scanner (Picker LSC 7000 with a 5-MHz transducer) was used. The sonographical examination was dynamic under normal and stress conditions. The sensitivity of sonography for diagnosis of rupture of the medial collateral ligament (LCM) was 87%, of the anterior cruciate ligament (LCA), 70% and of menisci, 89% and was thereby similar to that for examination under anaesthesia and arthroscopy and significantly superior to clinical examination alone. The specificity of sonography was very high: for rupture of the LCM 96%, the LCA 98% and the menisci 78%. Only for diagnosis of partial ligament rupture, especially partial LCA rupture, was the sensitivity of sonography low. In diagnosing ligament and meniscal injuries of the knee, sonography should be used routinely as a primary diagnostic tool after clinical examination because: 1. It is inexpensive 2. It has no side effects 3. It helps to cut down X-ray exposure 4. Anaesthesia is not required 5. It allows the recognition and avoidance of muscle tightness 6. Repetitions are possible at will 7. Documentation is included 8. Sensitivity and specificity are very good.

Adult↗
PubMed1991

Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.

To determine the molecular basis for type I hyperlipoproteinemia in two Austrian families, the lipoprotein lipase (LPL) gene of two patients exhibiting LPL deficiency was analyzed by Southern blotting and by direct genomic sequencing of DNA amplified by polymerase chain reaction (PCR). All exons of the LPL gene except part of the noncoding region of exon 10, all splice donor and acceptor sites, as well as 430 basepairs of the 5'-region including the promotor were sequenced. A homozygous substitution of adenine for guanine in the fifth exon at cDNA position 818 of the LPL gene was found in both patients. Our sequencing strategy largely ruled out a linkage disequilibrium of the identified nucleotide change with another defect potentially causing the clinical phenotype. The base change described abolishes a normally present AvaII restriction site allowing the identification of carriers of the mutant allele by AvaII digestion of PCR fragments of exon 5; three members of the two families were homozygous for this mutation and ten members were heterozygous. The activity of LPL in postheparin plasma was almost completely absent in homozygotes and about half normal in heterozygotes. The loss of activity was related to LPL protein structure. This mutation alters the amino acid sequence at residue 188 from Gly to Glu. The conformational preferences of the protein chain around position 188 were calculated with the use of a knowledge-based computerized method. The most probable conformation is a beta-turn formed by residues 189-192. The mutation seems to destabilize the beta-turn and/or a yet larger domain critical for substrate alignment.

Adult↗
PubMed1991

Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis?

Arylsulfatase A (ASA) pseudodeficiency does per definitionem not lead to metachromatic leukodystrophy. It is conceivable, however, that it may contribute to the susceptibility for more common, multifactorial disorders of the nervous system. In order to examine whether there is an association with multiple sclerosis (MS), the most common demyelinating disease, we screened 160 MS patients for ASA activity and looked for pseudodeficiency genotypes using polymerase chain reaction. Four homozygotes for the ASA pseudodeficiency allele were found among the MS patients, but only one in the control sample. Further studies are necessary to validate whether ASA pseudodeficiency is associated with MS.

Alleles↗