[Instrumented gait and movement analysis of musculoskeletal diseases]. / Instrumentelle Gang- und Bewegungsanalyse bei muskuloskelettalen Erkrankungen.

Instrumented 3-dimensional gait analysis is increasingly being used for the evaluation of movement disorders in orthopedic and neurological musculoskeletal diseases. Due to the high reliability of the measurements the procedures are appropriate for diagnostic purposes as well as for outcome assessment after conservative or surgical interventions. Contrary to conventional clinical assessments gait analysis parameters are able to demonstrate a normal physiological gait pattern that can be achieved with improved kinematic and kinetic parameters. For a suitable application in clinically relevant problems the limitations of the procedures should be taken into account. Due to the high instrumental involvement combined with time and cost expenditure instrumented gait analysis will probably not develop to a clinical routine procedure. Nevertheless, an excellent set of information for answering clinical questions is provided. The present contribution presents selected measurement procedures and technologies and illustrates the wide variety of possibilities with the use of selected clinical examples.

The effect of chronic alcohol consumption on mitochondrial DNA mutagenesis in human blood.

The 4977bp deletion of mitochondrial DNA (mtDNA) is known to accumulate with increasing age in post mitotic tissues. Recently, studies came out detecting this specific alteration also in fast replicating cells, e.g. in blood or skin tissue, often in correlation to specific diseases or -- specifically in skin -- external stressors such as UV radiation. In this study, we investigated mitochondrial mutagenesis in 69 patients with a chronic alcoholic disease and 46 age matched controls with a moderate drinking behavior. Two different fragments, specific for total and for deleted mtDNA (dmtDNA) were amplified in a duplex-PCR. A subsequent fragment analysis was performed and for relative quantification, the quotient of the peak areas of amplification products specific for deleted and total mtDNA was determined. Additionally, a real time PCR was performed to quantify mtDNA copy number. The relative amount of 4977bp deleted mtDNA in alcoholics was significantly increased compared to controls. On the other hand, no difference regarding the mtDNA/nuclear DNA ratio in both investigated groups was detected. Additionally, no age dependence could be found nor in alcoholics, neither in the control group. These findings indicate that mtDNA mutagenesis in blood can be influenced by stressors such as alcohol. Ethanol seems to be a significant factor to alter mitochondrial DNA in blood and might be an additional contributor for the cellular aging process.

[Diagnostic image (316). A woman who died despite resuscitation. Pulmonary bone marrow embolism secondary to a sternum fracture]. / Diagnose in beeld (316). Een vrouw overleden ondanks reanimatie.

A 75-year-old woman was unsuccessfully resuscitated. Post-mortem investigation showed pulmonary bone marrow embolism secondary to a sternum fracture probably caused by the external cardiac massage.

Sudden cardiac death in a 5-year-old girl associated with parvovirus B19 infection.

We report on a 5-year-old girl who suddenly collapsed and died while dancing at a family party. Histological examination of the heart including the cardiac conduction system revealed lymphocytic infiltrations of the sinu-atrial node and perivascular infiltration in the atrio-ventricular region. Additionally, foci of mononuclear infiltrates were observed in the myocardium. Consequently, myocarditis was diagnosed as cause of death. The child also had lymphocytic conjunctivis, parotitis and tracheitis. Evaluation of infections by means of nested polymerase chain reaction revealed parvovirus B19 DNA (PVB19) in tissue samples of the trachea.

ACTBP2 (alias ACTBP8) is localized on chromosome 6 (band 6q14).

The locus ACTBP2 (SE33) is localized on chromosome 6 (band 6q14). This has been demonstrated by typing a large Caucasoid three-generation kindred of Austrian origin for SE33 and several chromosome 6 markers.

Canine haematopoietic chimerism analyses by semiquantitative fluorescence detection of variable number of tandem repeat polymorphism.

Canine models are successfully applied to the study of haematopoietic stem cell transplantation (HSCT). Monitoring of haematopoietic donor/recipient chimerism is of major significance in detecting and quantifying engraftment or graft rejection of the donor-derived haematopoietic cells after transplantation. Radioactive analyses of polymorphic microsatellite markers are commonly used for chimerism analyses. We describe an improved, non-isotopic method that is based on the analysis of microsatellite markers in donor and recipient cells using capillary electrophoresis and fluorescence detection. Artificial mixtures of donor and recipient DNA that were generated from peripheral blood mononuclear cells from dog leukocyte antigen-identical siblings were used to analyse the sensitivity of the assay. DNA from dogs that had received HSCT were also analysed in order to demonstrate the feasibility of the method in vivo. For chimerism analyses, six different microsatellite loci were systematically amplified using fluorescent PCR primer. The fluorescent polymerase chain reaction products were separated by capillary electrophoresis using POP4 on a 310 ABI Prism Genetic Analyzer. After electrophoresis, fluorescence signals were automatically sized and quantified using GeneScan software. The method described provides an accurate assessment of haematopoietic chimerism in the canine model with significantly reduced hands-on time compared to conventional gel electrophoresis.

Pharmacokinetics and tolerability of iopromide 240 after lumbar myelography.

OBJECTIVE: To evaluate the pharmacokinetics and tolerability of iopromide 240 mg iodine/mL after intrathecal administration. METHODS: Eleven patients with an indication for lumbar myelography received 10 mL iopromide 240 in an open, prospective, single-center study. All patients were followed 72 hours after the procedure and remained in the hospital. Urine was sampled from before the myelography up to 72 hours after the procedure in stages (range, 0-6, 6-12, 12-24, 24-48, and 48-72 hours). Iodine plasma levels were determined before and 30 minutes, 1 hour, 2 hours, 4 hours, 6 hours, 9 hours, 12 hours, and 24 hours after the administration of iopromide 240. Vital signs were measured at baseline, before, and 1 and 24 hours after the procedure. Physical and neurologic examinations were performed in all patients at baseline and at the end of the study period; all adverse events were recorded. The results were subject to pharmacokinetic analysis using compartment model-independent and -dependent methods. RESULTS: Ten of 11 patients had measurable iodine plasma levels. After a lag time of approximately 0.6 hours (mean value), maximum iodine concentrations of 45% of the administered dose per total plasma volume were observed after 3.8 hours. Plasma half-lives ranged from 3.0 to 60.5 hours (model-independent methods) with a mean of 14.9 hours and a standard deviation of 17.0 hours. Using curve fitting with an open one-compartment model revealed good agreement with the model-independent methods (half-life 17.3 hours). The recovery of iodine in urine in the 72-hour period was 78%+/-15% (range, 53%-94%) as a result of an undeterminable loss of urine in some patients and prolonged half-lives in two patients. Only one patient had adverse events 24 hours after myelography. CONCLUSIONS: After lumbar myelography, iopromide 240 is almost completely excreted renally within 72 hours, with a prolonged half-life as a result of the route of administration. The kinetics of iopromide 240 after intrathecal administration are characterized by a prolonged half-life. The safety of the contrast medium was confirmed.

A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis.

Many neurological disorders have been described in combination with sensorineural hearing loss and pigmentary retinopathy. We present the clinicopathological case of such a combination, associated with premature atherosclerosis of large cerebral arteries. In the literature dealing with the combination of deafness and pigmentary retinopathy, none of the many described syndromes was associated with premature atherosclerosis. The mitochondrial myopathy, encephalopathy, lactic acidosis, early atherosclerosis and stroke-like episodes (MELAS) syndrome can include deafness and blindness. In this syndrome small cerebral arteries are affected. In our case we did not find electron microscopic evidence of mitochondrial myopathy. Also the syndrome with encephalopathy, deafness, blindness and ataxia in young women is attributed to microangiopathy with small brain infarcts and retinal infarcts. In contrast, in our case, large cerebral arteries are affected. In the reverse order, none of the conditions with early atherosclerosis has been reported in combination with sensorineural deafness and pigmentary retinopathy. There is some similarity of our case to cases of Usher syndrome, type II. In the Usher syndrome, plasma lipid disturbances have been described and neuroradiological evidence of decreased circulation in the posterior cerebral circulation has been published. We suggest that in cases of congenital or acquired oto-ophthalmo-neurological disease the cerebral circulation and the lipid metabolism should be analyzed.

Determination of ABO antigens in fingernails using the APAAP (immunoalkaline phosphatase) technique.

Fingernail specimens with adherent nail-bed were taken from autopsy material with blood groups A, AB, B and O. Frozen 4-5-microns sections were submerged and floated carefully during each working step. Portions of fingernails were contaminated with blood and buccal cells, respectively. Furthermore, fingernail fragments of 8 volunteers were embedded in a biocomponent adhesive according to Grieve and Kotowski (Forensic Sci. Soc., 26 29-34) (1986) and cut by the usual microtome technique. APAAP staining is a proper method for demonstrating blood group antigens in fingernails from groove to margin. Frozen sections as well as smallest specimen embedded in a suitable adhesive are applicable for staining procedures. Using freshly prepared artificial stains, blood group constellations of red blood cells and/or buccal cells adherent on the surface of fingernails may be distinguished from the nail matrix.

Influence of cyanoacrylate on the efficiency of forensic PCRs.

Cyanoacrylate ester (CA) is commonly used by criminalists to detect latent fingerprints on smooth surfaces. We investigated whether this treatment has an influence on a subsequent DNA typing of biological stains, and on the efficiency of three different forensic PCRs (mtDNA, Y-STR determination and the Profiler Plus kit). Using fluorescence labeled primers and an automated detection system, we could show that the presence of CA led to weaker PCR products. Depending on the DNA extraction method the amplification results were significantly weaker compared to untreated controls. To simulate forensic cases we prepared blood and saliva stains on glass slides, extracted the DNA using two different methods and compared the signal intensities of the amplified DNA fragments. Depending on the extraction methods, the presence of CA significantly hampered the amplification of DNA from small stains whereas there was virtually no difference comparing the amplification results of DNA extracted from bigger stains.

[Diagnosis of chronic alcohol abuse in intoxicated drivers: carbohydrate-deficient transferrin (CDT) in combination with other parameters]. / Diagnostik des chronischen Alkoholmissbrauchs bei Trunkenheitsfahrern: Carbohydrate deficient transferrin (CDT) in Kombination mit weiteren Parametern.

In 109 drunken male drivers from the area of Rostock the marker of alcohol abuse CDT was superior to the established laboratory parametres gammaglutamyltransferase (GGT) and mean cell volume (MCV) concerning the diagnostic efficiency. The prerequisite for the high diagnostic evidence of the CDT is the quantification of the minor band and the definition of standards of valuation by comparative studies with defined groups of probands (alcoholics, normal population). The combination of the 3 parametres CDT/GGT/MCV gave in 67% of the examined drunken drivers more or less strong hints at chronic alcohol abuse. The BAC of 1.6/1000 as a base for the decision to cause a medical-psychological examination (in case of "poison-resistance") turned out in this study to be an interchangeable, incomprehensible value. In about two thirds of the examined drunken drivers laboratory findings were pathological also in case of BAC below 1.6/1000. According to the experiences existing so far the parametres-combination CDT/GGT is unreservedly suitable as a screening procedure for the registration of potential or manifest alcoholics. Because the examinations may be performed from the usual blood samples for the BAC-detection these laboratory parametres really offer themselves for questions of traffic medicine. Further investigations are necessary.

The impact of the medical emergency team on the resuscitation practice of critical care nurses.

BACKGROUND: Medical Emergency Teams (MET)/rapid response are replacing Cardiac Arrest teams in acute hospitals. There is a lack of knowledge about how Critical Care Nurses (CCNs), rostered on MET construct their responsibilities/roles. OBJECTIVE: Assess MET nurse activities at different hospitals. METHODS: The authors used visual ethnography; selecting Systemic Functional Grammar as our methodological framework. The Generic Systemic Potential was used to guide the coding of visual and inferential meaning of the activities of MET nurses. CCNs coded over 6 of videoed MET calls, sampled across three hospitals, Sydney, Australia. RESULTS: The first layer of coding contained 1042 discreet tasks. They were sorted into 15 Areas of Practice (AOPs) and then allocated to aspects of performance (psychomotor and cognitive). The AOPs 'Assisting with Procedure' through to 'Monitoring Vital Signs' reflect psychomotor skills which account for almost half (48%) of the AOPs at site 1 and three-quarters at sites 2 (70%) and 3 (78%). Eight generic responsibilities/roles were identified. 'Ongoing Assessment,' 'Re-evaluating Risk' and 'Prioritising Interventions' were the most prominent. The patterns differed by hospital: 'Re-evaluating Risk' was prominent for sites 1 and 2 but less so for site 3. CONCLUSION: 'Ongoing Assessment' and 'Re-evaluating Risk' occupied almost half of the MET nurses time, whereas 'Establishing Patient Acuity, the key activity in CA teams, occupied only 4%. These findings provide evidence of the roles of CCNs in the MET and suggest that education and training of MET nurses should support these roles.

Mother-child exclusion due to paternal uniparental disomy 6.

In a mother-child pair, false exclusions in markers on chromosome 6 have been observed. The genetic incompatibilities have been caused by paternal uniparental disomy. The consequences of such cases for investigations of parentage are discussed.

[Estimation of age from root dentine transparency (author's transl)]. / Zur Schätzung des Alters anhand der Zahnwurzeltransparenz.

Measurement of root dentine transparency according to Band und Ramm (1970) is principally suitable for determination of age. Our own investigations of 601 teeth of 50 persons resulted in a regression function of y = 23.8 + 4.5 x +/- 15.3 in a coefficient of correlation amounting to r = +0/67. The best findings were obtained in persons between 30-60 years of age. This technique is particularly useful for the fast determination of age under conditions prevailing during autopsy. Gross errors of the age of teeth is possible. Therefore, all oral criteria are still required to obtain reliable estimations.

[HLA-A, B, C gene, antigen and haplotype frequencies in the northern GDR (German Democratic Republic)]. / HLA-A, B, C-Gen-, Antigen- und Haplotypenfrequenzen aus dem Norden der DDR.

HLA-A, B, C-polymorphism was characterized from a population sample taken in the north of the GDR (n = 1446). The frequencies obtained are representative for the GDR population. The data properly fit into the European distribution pattern of HLA antigens.