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Biomedical subjects

C Bischoff

Publications and source records attributed to C Bischoff.

At least 19 recordsLinked to original sources
PubMed2006

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

High concentrations of butyryl/isobutyrylcarnitine (C(4)-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differentiate the possible underlying defect. Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.

Brain Diseases↗
PubMed2006

[Effects of therapy goal oriented cognitive behavioural aftercare measures on therapy transfer following inpatient psychosomatic rehabilitation].

OBJECTIVE: After discharge from inpatient psychosomatic rehabilitation patients often face problems to transfer and stabilize the modifications they have achieved in the clinic. Using targeted outpatient aftercare interventions up to eight weeks after discharge from the inpatient programme we tried to support this transfer, thus enhancing treatment effectiveness. METHOD: The evaluation was carried out as a field experiment. Patients were matched into pairs and then allocated randomly to either a control or an experimental condition. The experimental group, which had participated in specific aftercare measures after inpatient therapy, was compared to the control group at "discharge from clinic" and "twelve weeks post-discharge" relative to a number of variables relevant in therapy outcome. RESULTS: Twelve weeks post-discharge patients who had participated in aftercare measures show significantly better progress relative to their physical and psychological complaints than patients in the control group. Also, they are more capable of coping with psychosocial demands of their everyday life. They experience better control of their symptoms and they are more successful in attaining the goals they have set for themselves for the time after discharge. CONCLUSIONS: The findings show that supplementing psychosomatic inpatient rehabilitation with specific aftercare measures will lead to better transfer and to increased effectiveness of psychosomatic rehabilitation. Also on account of our results, outpatient rehab aftercare programmes have in the meantime become a regular component of inpatient psychosomatic rehabilitation in Germany.

Adult↗
PubMed2006

[Acceptance of a psychometric routine diagnostics and quality monitoring system among psychotherapists in inpatient psychosomatic rehabilitation].

OBJECTIVE: Psychotherapists are considered to be sceptical of empirical measures of quality assurance. It is generally recognised that the success of these measures mainly depends on how they are accepted by the people involved. METHODS: The acceptance of a quality monitoring system among psychotherapists was investigated with a standardised assessment instrument. RESULTS: Practical relevance and practicability of the system were judged positively on the following dimensions: "support of clinical diagnostics", "examination of the outcome", "reflecting on the therapeutic process", "documentation", "integration in the therapeutic process", "pressure to succeed and control" and "work loading". The factors "professional experience", "profession" and "sex" had just a small influence on the degree of acceptance of the quality monitoring system. CONCLUSIONS: Psychotherapists consider a practically relevant and economical quality monitoring system as useful.

Attitude of Health Personnel↗
PubMed2005

Rapid detection of diarrheagenic E. coli by real-time PCR.

Enterovirulent Escherichia coli are among the most important causes of acute diarrhea in developing as well as in developed countries. We have adapted classical PCR to detect these organisms in stool specimens to real-time PCR using the LightCycler (LC) SYBR Green format followed by melting curve analysis. With only two different cycling protocols we could detect enteropathogenic E. coli (EPEC) and verocytotoxin-producing E. coli (VTEC) (duplex assay for both Verotoxin 1 (VT1) and Verotoxin 2 (VT2)) in one run and enteroaggregative E. coli (EAEC), enteroinvasive E. coli (EIEC) and enterotoxigenic E. coli (ETEC) (duplex assay detecting both heat-stable enterotoxin (ST) and heat-labile enterotoxin (LT)) in another run. Using serial dilutions of control strains, the LC proved to be clearly more sensitive than conventional PCR for five out of seven investigated targets: VTEC (VT1 and VT2), ETEC (ST and LT) and EIEC. For EPEC and EAEC, LC and conventional PCR had identical sensitivities. With stool samples, we found an optimal agreement between LC-PCR and the conventional PCR when samples were tested in a 1:10 dilution. Only one specimen was discrepant, being repetitively positive for VT by LightCycler but not by conventional PCR. Given the significantly higher sensitivity of the LC-PCR for the VT target (up to a 10(-4) dilution factor by melting curve analysis and up to a 10(-6) dilution factor following gel electrophoresis), this is probably a false negative result by conventional PCR. We conclude that LightCycler PCR is more rapid, easier than and at least as sensitive as our conventional PCR for the detection of enterovirulent E. coli in stool specimens after culture on MacConkey.

Bacterial Toxins↗
PubMed2005

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality. However, isolated LCHAD deficiency can also be consistent with long-term survival in patients identified and treated from an early age. We present biochemical, clinical and mutation data in 9 patients spanning the full spectrum of disease. Fibroblast acylcarnitine profiling shows good correlation with clinical phenotype using the ratio C18(OH)/(C14(OH)+C12(OH)). This ratio shows a gradation of values, from high in four patients with severe neonatal disease (2.5+/-0.8), to low in two neuromyopathic patients (0.35, 0.2). Fibroblast fatty acid oxidation flux assays also show correlation with the patient phenotype, when expressed either as percentage residual activity with palmitate or as a ratio of percentage activity of myristate/oleate (M/O ratio). Fibroblasts from four patients with severe neonatal disease gave an M/O ratio of 4.0+/-0.6 compared to 1.97 and 1.62 in two neuromyopathic patients. Specific enzyme assay of LCHAD and long-chain 3-ketothiolase activity in patient cells shows lack of correlation with phenotype. These results show that measurements in intact cells, which allow all determinative and modifying cellular factors to be present, better reflect patient phenotype. Mutation analysis reveals a number of alpha- and beta-subunit mutations. Peripheral sensorimotor polyneuropathy, often as the initial major presenting feature but usually later accompanied by episodic rhabdomyolysis, is a manifestation of mild TFP protein deficiency. The mild clinical presentation and relative difficulty in diagnosis suggest that this form of TFP is probably underdiagnosed.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed2004

Post surgical development of inflammatory adhesions and reticular function in cows suffering from traumatic reticuloperitonitis.

Inflammatory adhesions between reticulum and ventral abdomen in patients suffering traumatic reticuloperitonitis (TRP) may induce a massive inhibition of reticular contractions and thereby an impairment of the separation process of particles in the reticulorumen. However, a substantial disturbance of digesta passage (Hoflund-syndrome) is found only in a few TRP-cows. We hypothesized that this is due to a retrieval of reticular motility due to rebuilding and degradation of adhesions within months after the removal of the foreign body as the primary inflammatory stimulus. Accordingly, it was the objective of this study (a) to assess the extent and structure of inflammatory adhesions in cows with TRP over a period of six months following surgery and (b) to persecute reticular function by characterizing the sequence of reticular contractions sonographically and by assessment of particle size distribution in the faeces of patients by means of wet-sieving. Twenty-six cows suffering from TRP were studied on the day of rumenotomy (day 1) and on day 6, day 12 and 6 months post operationem. Additionally, six healthy control cows were investigated once. All cows were on a hay and concentrate diet. On day 1, the reticular floor and the reticular wall were affected by adhesions in varying extent in all cows; the contraction distance and contraction velocity of the reticulum were markedly reduced and the portion of large particles in the faces increased compared to healthy cows. On day 12, the portion of large particles did not vary any more from that of control cows; a tendency towards an increased contraction distance compared to day 1 was found. Sonographically, only marginal differences were detected in respect to extent and consistency of adhesions. Six months after rumenotomy, in 9 of 16 re-investigated cows sonography revealed no adhesions at the reticulum at all, in other cases the extent of adhesions shrunk considerably. Contraction distance and contraction velocity and particle size distribution in the faeces were found to be nearly comparable to that of control cows. It is concluded that inflammatory adhesions disappear in the majority of the TRP-patients, as a consequence reticular function normalizes. A serious disturbance of digesta passage seems to develop exclusively in those patients with the most extensive adhesions and may be also in such cows, where the primary adhesions cause the development of extensive abscesses.

Animals↗
PubMed2003

Obstacles in the diagnosis and treatment of syphilitic amyotrophy.

The authors describe a case of syphilitic amyotrophy in a 37-year-old man presenting with subacute progressive painless weakness in the right arm. Syphilitic amyotrophy is still an existing differential diagnosis of painless and progressive weakness. The authors explore potential obstacles in the diagnostic workup and finding of adequate therapy.

Adult↗
PubMed2001

[Brain stem and cerebellar atrophy in neurosyphilis].

A 54-year-old man suffered from serologically proven neurosyphilis with tetraspastic syndrome and bladder dysfunction. He showed a pronounced psychopathy with cognitive decline and attention/concentration deficits. MRI showed slowly progressive cerebellar and brainstem atrophy, which has rarely been described over the past decades. During times of higher incidence and prevalence of neurosyphilis, infratentorial atrophy had been described occasionally, but today this clinical manifestation has been all but forgotten.

Atrophy↗
PubMed2001

Evaluation of clinical, electrophysiologic, and computed tomographic parameters in replanted hands.

OBJECTIVE: To compare clinical, electrophysiologic, and computed tomography (CT) imaging correlates of reinnervation in replanted limbs. DESIGN: Patients were assessed between 8 and 194 months after replantation of completely severed hands. SETTING: University hospital, departments for neurology and for plastic and reconstructive surgery. PARTICIPANTS: Thirteen patients, 10 with total and 3 with subtotal type V amputation, whose hands had been reattached. INTERVENTIONS: Clinical assessment of function of hand and finger muscles; electromyographic tests of sensory nerve action potentials (SNAPs) of median, ulnar, and radial nerves; and compound motor action potentials (CMAPs) of abductor pollicis brevis, first dorsal interosseus, and abductor digiti minimi muscles. CT assessment of motor unit action potentials. Measurements of both replanted and normal hands. MAIN OUTCOME MEASURES: Medical Research Council scale of force; sensory functions of anatomic areas of nerves; SNAP and CMAP amplitudes; CT area, mean absorption, standard deviation (SD) from mean absorption, and root mean square SD of absorption. RESULTS: Correlates of reinnervation were evidenced by all methods, except by surface recordings of SNAPs, which could not be elicited even in hands with good sensory function. CMAP amplitudes were the electrophysiologic parameter that correlated best with the clinical restoration. Of the CT measures, the cross-sectional area was the most useful parameter for the detection of denervation, but no CT parameter was sufficiently sensitive to detect reinnervation. In cases with good functional recovery, CMAP amplitudes were superior to clinical rating in showing incomplete reinnervation. CONCLUSION: The combination of clinical and electrophysiologic methods supplied sufficient data for a reliable evaluation of reinnervation. Usually, CT parameters did not add useful information.

Action Potentials↗
PubMed2000

The human elongation factor 1 A-2 gene (EEF1A2): complete sequence and characterization of gene structure and promoter activity.

The eukaryotic elongation factor 1 A (eEF1A, formerly EF1alpha) is a key factor in protein synthesis, where it promotes the transfer of aminoacylated tRNAs to the A site of the ribosome. Two differentially expressed isoforms of eEF1A, designated eEF1A-1 and eEF1A-2, are found in mammals. Here we report the isolation and sequencing of the gene (HGMW-approved symbol EEF1A2) coding for the human eEF1A-2 isoform. Furthermore, we characterize the gene structure and the activity of the promoter. Isolation of overlapping clones from human libraries revealed that the human eEF1A-2 gene spans approximately 10 kb and consists of eight exons. The intron-exon boundaries of human EEF1A2 and EEF1A1 are conserved, yet the gene of the eEF1A-2 isoform is larger than the eEF1A-1 gene because of enlarged introns. Primer extension analysis identified the predominant transcription start site 166 bp upstream of the AUG codon. The start site maps to an adenine located within a consensus initiator element. Sequencing of a 2-kb 5'-flanking promoter region revealed no TATA element. However, several putative cis-regulatory elements were discovered. The 5'-promoter activity was characterized by transient transfection experiments. Progressive deletions of the upstream promoter region defined a minimal promoter region, ranging from -16 to +92, that is sufficient to drive transcription.

Base Sequence↗
PubMed2000

Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy.

The aim of the study was to investigate whether there are correlations between electromyography (EMG) data and findings in muscle magnetic resonance imaging (MRI). Quantitative EMG data and the amount of pathologic spontaneous activity (PSA) were compared with MRI signal intensities of the tibialis anterior muscles of 20 patients with axonal polyneuropathy and 14 healthy subjects. Using hierarchical regression analysis, the mean motor unit action potential (MUAP) size index (SI) and the amount of PSA were accurate predictors of T1-weighted signal intensity in MRI, an expression of fatty degeneration. The MUAP SI was superior to MUAP amplitude in explaining the variance of T1 signal intensity. Age was not a relevant factor. A high correlation was found between the amount of PSA and the T2-weighted signal intensity in short tau inversion recovery sequence. Magnetic resonance imaging demonstrates the structural changes and thus visualizes the outcome of the functional changes of denervation and reinnervation detected by EMG.

Action Potentials↗
PubMed1999

Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood.

To study telomere length dynamics in hematopoietic cells with age, we analyzed the average length of telomere repeat sequences in diverse populations of nucleated blood cells. More than 500 individuals ranging in age from 0 to 90 yr, including 36 pairs of monozygous and dizygotic twins, were analyzed using quantitative fluorescence in situ hybridization and flow cytometry. Granulocytes and naive T cells showed a parallel biphasic decline in telomere length with age that most likely reflected accumulated cell divisions in the common precursors of both cell types: hematopoietic stem cells. Telomere loss was very rapid in the first year, and continued for more than eight decades at a 30-fold lower rate. Memory T cells also showed an initial rapid decline in telomere length with age. However, in contrast to naive T cells, this decline continued for several years, and in older individuals lymphocytes typically had shorter telomeres than did granulocytes. Our findings point to a dramatic decline in stem cell turnover in early childhood and support the notion that cell divisions in hematopoietic stem cells and T cells result in loss of telomeric DNA.

Adolescent↗
PubMed1999

Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells.

The incision of the 8-oxoguanine in DNA by normal and Cockayne Syndrome (CS) cell extracts has been investigated. The incision in extracts derived from CS cells was approximately 50% of the incision level compared with extracts prepared from normal cells. In contrast, the incision rate of uracil and thymine glycol was not defective in CS cells. The deficiency in 8-oxoguanine incision was also demonstrated in a CS family. Whereas the proband had markedly less incision compared with the normal siblings, the parents had intermediate levels. The low level of 8-oxoguanine-DNA glycosylase in CS extracts correlates with the reduced expression of the 8-oxoguanine-DNA glycosylase gene (hOGG1) in CS cells. Both the levels of expression of the hOGG1 gene and the incision of 8-oxoguanine in DNAincreased markedly after transfection of CS-B cells with the CSB gene. We suggest that the CSB mutation leads to deficient transcription of the hOGG1 gene and thus to deficient repair of 8-oxoguanine in DNA.

Base Sequence↗
PubMed1999

Multiple A waves in Guillain-Barré syndrome.

In 13 of 14 patients with Guillain-Barré syndrome (GBS), we observed multiple A waves in at least one limb nerve on routine electroneurographic studies within 7 days after onset of symptoms. The patient without A waves had a severe axonal type of GBS with tetraplegia and almost complete loss of M responses following electrical stimulation of limb nerves. In the remaining 13 patients, on average 8 +/- 2 (mean +/- SD) A waves were present in each tibial nerve (n = 24) and 4 +/- 1 A waves in each peroneal nerve (n = 26). About half of the A waves were below 50 microV in amplitude, whereas amplitudes were higher than 120 microV in only 22 of 299 A waves. Of these A waves, 68 were not constantly elicitable. There was a significant correlation between the number of A waves up to 50 ms poststimulus and the reduction in amplitude of the compound muscle action potential when elicited with proximal compared to distal stimulation in the peroneal (n = 26, P < 0.0005; Kendall's tau) and tibial nerves (n = 24, P < 0.002). Therefore, in GBS both conduction block and A waves are presumably signs of inflammatory nerve lesions. The existence of multiple A waves soon after onset of symptoms seems to be a sensitive sign of GBS.

Adolescent↗
PubMed1999

Influence of different types of surface electrodes on amplitude, area and duration of the compound muscle action potential.

OBJECTIVES: The aim of this study was to evaluate if the type of surface electrode (disposable/non-disposable, fixed/variable inter-electrode distances, different surface structure and size of recording area) influences the compound muscle action potential (CMAP) values of baseline-to-peak and peak-to-peak amplitude and corresponding areas and duration. METHODS: We investigated a total of 72 CMAPs of the abductor digiti minimi and the tibial anterior muscle of 18 healthy persons using 7 different types of electrodes in each muscle. RESULTS: There was no significant difference of CMAP values between the electrodes which had a variable inter-electrode distance. A significant difference of all CMAP values was observed when these electrodes were compared with a bar-electrode with a fixed inter-electrode distance (P<0.001). There was no correlation between recording area of the electrodes and the absolute CMAP values. Only the differences of CMAP values between each electrode and a defined electrode in each subject revealed a significant correlation between the size of recording area and these differences of CMAP values. CONCLUSION: To avoid false results in motor neurography only electrodes with variable distances between the recording pairs should be used. Using those electrodes and following standardized measuring conditions, CMAP values can be compared even if they are measured in different laboratories and at different occasions.

Action Potentials↗