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Biomedical subjects

F Reinhardt

Publications and source records attributed to F Reinhardt.

At least 19 recordsLinked to original sources

Mapping of quantitative trait loci for lactation persistency traits in German Holstein dairy cattle.

A whole genome scan to map quantitative trait loci (QTL) for persistency of milk yield (PMY), persistency of fat yield (PFY), persistency of protein yield (PPY) and persistency of milk energy yield (PEY) was performed in a granddaughter design in the German Holstein dairy cattle population. The analysis included 16 paternal half-sib families with a total of 872 bulls. The analysis was carried out for the first lactation and for the first three lactations combined using univariate weighted multimarker regression. Controlling the false discovery rate across traits and data sets at a level of 0.15 and treating the four persistency traits as different traits revealed 27 significant QTL. A total of 12 chromosomes showed significant QTL effects on a chromosomewise basis. The DGAT1 effect was highly significant for PPY and protein yield. A haplotype analysis using results of previous studies of the same design revealed a co-segregation of various persistency QTL and QTL affecting health traits like dystocia and stillbirth and functional traits like non-return rate 90 and somatic cell score.

Animals↗

[Cranial imaging and serology tests are not helpful in tonic pupil. A retrospective study].

BACKGROUND: Tonic pupil (TP) is a common disorder of parasympathetic innervation. In contrast to textbook recommendations, cranial imaging is still being performed in most of the patients with TP. The intention of the present study is to show that cranial imaging is of no benefit. PATIENTS AND METHODS: The medical records of 33 patients with TP were analyzed retrospectively. All patients had undergone a complete ophthalmological, orthoptic, and neurological investigation. Cranial imaging was performed by computed tomography or magnetic resonance imaging. Serology tests were carried out in some of the patients. RESULTS: Diagnostic imaging provided no additional data revealing the underlying cause of TP. CONCLUSIONS: Cranial imaging in isolated tonic pupil is not helpful. Because of therapeutic implications, diagnostic evaluation can be recommended only in patients older than 50 years to exclude giant cell arteritis and syphilis.

Adolescent↗

Estimation of quantitative trait loci parameters for milk production traits in German Holstein dairy cattle population.

The main objective of this study was to estimate the proportion of total genetic variance attributed to a quantitative trait locus (QTL) on Bos taurus autosome 6 (BTA6) for milk production traits in the German Holstein dairy cattle population. The analyzed chromosomal region on BTA6 spanned approximately 70 cM, and contained 6 microsatellite markers. Milk production data were obtained from routine genetic evaluation for 4500 genotyped German Holstein bulls. Technical aspects related to the estimation of model parameters for a large data set from routine genotype recording were outlined. A fixed QTL model and a random QTL model were introduced to incorporate marker information into parameter estimation and genetic evaluation. Estimated QTL variances, expressed as the ratio of QTL to polygenic variances, were 0.04, 0.03, and 0.07 for milk yield; 0.06, 0.08, and 0.14 for fat yield; and 0.04, 0.04, and 0.11 for protein yield, in the first 3 parities, respectively. The estimated QTL positions, expressed as distances from the leftmost marker DIK82, were 18, 31, and 17 cM for milk yield; 25, 17, and 9 cM for fat yield; and 16, 30, and 17 cM for protein yield in the 3 respective parities. Because the data for the parameter estimation well represented the current population of active German Holstein bulls, the QTL parameter estimates have been used in routine marker-assisted genetic evaluation for German Holsteins.

Analysis of Variance↗

Biofeedback as a supportive method in weaning long-term ventilated critically ill patients.

Weaning a patient from mechanical ventilation is occasionally a difficult process complicated by the patient's emotional state. Anxiety, agitation, depression and other emotional disturbances can start a vicious circle between fear of losing breath and dyspnea that impairs the process of withdrawing ventilatory support. A biocybernetic loop model is suggested that integrates psychological variables (e.g., capacity of self-control, self-confidence, sense of self-efficacy) as important factors for a successful weaning. The paradigm of biofeedback is regarded as a suited approach to strengthen these psychological factors. It means the externalization of physiological functions especially of those from the autonomous nervous system so that a patient becomes aware of them. In the case of the ventilated patient, it is assumed that the transformation of the respiratory activities into perceptible (acoustic and visual) signals supports the patient's self-controlling behaviour during the weaning process. He gets positive reinforcement for his efforts to influence his breathing intentionally and, by continuous and immediate information, he regains self-confidence to control his somatic functions effectively. The application of biofeedback is mainly described in single case studies. They all report a decrease in the respiratory rate and an increase in the tidal volume. The need for a controlled study is suggested that would answer the question of whether biofeedback is an appropriate psychological tool to facilitate the weaning process in mechanically ventilated patients.

Biofeedback, Psychology↗

The DGAT1 K232A mutation is not solely responsible for the milk production quantitative trait locus on the bovine chromosome 14.

The gene, acyl-CoA:diacylglycerol acyltransferase1 (DGAT1), was recently identified as the one underlying the quantitative trait locus (QTL) for milk production traits in the centromeric region of the bovine chromosome 14. Until now, 2 alleles, the lysine variant (increasing fat yield, fat and protein percentage) and the alanine variant (increasing protein and milk yield), were postulated at DGAT1. This study investigated whether the diallelic DGAT1 polymorphism is responsible for all the genetic variation at the centromeric region of this chromosome for milk, fat, and protein yield and fat and protein percentage. A statistical model was applied to a granddaughter design to analyze 16 German Holstein families. The model included the diallelic DGAT1 effect and the QTL transition probability estimated for each chromosomal position by a multiple marker approach. Because the regression coefficient of this probability was corrected for the diallelic DGAT1 polymorphism, it represented a putative conditional QTL effect. The effect of the DGAT1 gene was always highly significant. The conditional QTL effect was significant genomewise for fat percentage at the proximal end of the chromosome and for protein percentage at a more distal chromosomal region. Additional chromosomewise significance was found for fat and protein yield. Our results suggest an additional source of genetic variance on this chromosome for these traits; either one or more additional alleles segregating at DGAT1 that were not previously detected, a second quantitative trait locus affecting these traits, or both.

Acyltransferases↗

Derivation and calculation of approximate reliabilities and daughter yield-deviations of a random regression test-day model for genetic evaluation of dairy cattle.

Test-day milk, fat, protein yield, and somatic cell score (SCS) were analyzed separately using data from the first 3 lactations and a random regression model. Data used in the model were from Austria, Germany, and Luxembourg and from Holstein, Red, and Jersey dairy cattle. For reliability approximation, a multiple-trait effective daughter contribution (MTEDC) method was developed under general multiple trait models, including random regression test-day models, by extending the single-trait daughter equivalents concept. The MTEDC was applied to the very large dairy population, with about 15.5 million animals. The calculation of reliabilities required less computer memory than the corresponding iteration program and a significantly lower computing time equivalent to 24 rounds of iteration. A formula for daughter-yield deviations was derived for bulls under multiple-trait models. Reliability associated with daughter-yield deviations was approximated using the MTEDC method. Both the daughter-yield deviation formula and associated reliability method were verified in a simulation study using the random regression test-day model. Correlations of lactation daughter-yield deviations with estimated breeding values calculated from a routine genetic evaluation were 0.996 for all bulls and 0.95 for young bulls having only daughters with short lactations.

Analysis of Variance↗

Quantitative trait loci mapping of functional traits in the German Holstein cattle population.

A whole-genome scan to detect quantitative trait loci (QTL) for functional traits was performed in the German Holstein cattle population. For this purpose, 263 genetic markers across all autosomes and the pseudoautosomal region of the sex chromosomes were genotyped in 16 granddaughter-design families with 872 sons. The traits investigated were deregressed breedingvalues for maternal and direct effects on dystocia (DYSm, DYSd) and stillbirth (STIm, STId) as well as maternal and paternal effects on nonreturn rates of 90 d (NR90m, NR90p). Furthermore, deregressed breeding values for functional herd life (FHL) and daughter yield deviation for somatic cell count (SCC) were investigated. Weighted multimarker regression analyses across families and permutation tests were applied for the detection of QTL and the calculation of statistical significance. A ten percent genomewise significant QTL was localized for DYSm on chromosome 8 and for SCC on chromosome 18. A further 24 putative QTL exceeding the 5% chromosomewise threshold were detected. On chromosomes 7, 8, 10, 18, and X/Yps, coincidence of QTL for several traits was observed. Our results suggest that loci with influence on udder health may also contribute to genetic variance of longevity. Prior to implementation of these QTL in marker assisted selection programs for functional traits, information about direct and correlated effects of these QTL as well as fine mapping of their chromosomal positions is required.

Animals↗

Mapping of the bovine blood group systems J, N', R', and Z show evidence for oligo-genetic inheritance.

Genes determining the bovine erythrocyte antigens were mapped by linkage analysis. In total 9591 genotypes of 20 grandsire families with 1074 sires from a grand-daughter design were elucidated for the genes determining the erythrocyte antigens EAA, EAB, EAC, EAF, EAJ, EAL, EAM, EAN', EAR', EAS, EAT', and EAZ according to standard paternity testing procedures in the blood typing laboratories. Linkage analyses were performed with 248 microsatellite markers, eight SSCP markers and four polymorphic proteins and enzymes covering the 29 autosomes and the pseudoautosomal region of the sex chromosomes. The number of informative meioses for the blood group systems ranged from 76 to 947. Blood group systems EAM and EAT' were non-informative. Most of the erythrocyte antigen loci showed significant linkage to a single chromosome and were mapped unequivocally. The genes determining erythrocyte antigen EAA, EAB, EAC, EAL, and EAS were mapped to chromosomes 15, 12, 18, 3, and 21, respectively. Lod-score values ranged from 11.43 to 107.83. Moreover, the EAF system could be mapped to chromosome 17. However, the EAN' system previously known as part of the EAF system could be mapped to chromosome 5. In addition, the blood group systems EAJ, the new EAN', EAR', and EAZ, showed significant linkage to microsatellite markers on various chromosomes and also to other blood groups. The appearance of a single blood group system might be therefore either dependent on the existence of other blood group systems or because of an interaction between different loci on various chromosomes as is known in humans and in pigs.

Animals↗

Transcutaneous and intra-arterial blood gas monitoring--a comparison during apnoea testing for the determination of brain death.

Intra-arterial (i.a.) and transcutaneous (t.c.) blood gas monitoring were compared with in vitro blood gas analysis (abg) during apnoea testing for the determination of brain death in a prospective observational study. All three methods were used simultaneously in 19 patients in whom brain death was suspected. Brain death was confirmed in each case adhering to the recommendations of the Scientific Advisory Board of the German Federal Chamber of Physicians which demand a PCO2 of at least 60 mmHg. In vitro parameters ranged from 23.2 to 80.4 mmHg (PCO2), 52.7 to 509.9 mmHg (PO2), and 7.072 to 7.591 (pH). The intra-individual correlations between both monitoring methods (rPCO2=0.958, rPO2=0.859) and between each of them and abg (r>0.960) were high. Absolute deviations from abg for the corrected as well as uncorrected measurements were similar for both methods, except with regard to group bias where an advantage for the i.a. values emerged. Since many of the i.a. measurements failed and the disposable i.a. probes cost much more than the t.c. electrodes, the i.a. technique at present holds no advantage over t.c. measurements in testing for apnoea in suspected brain death except where simultaneous monitoring of pH and temperature are desired.

Adolescent↗

A whole genome scan for differences in recombination rates among three Bos taurus breeds.

Twenty paternal half-sib families of a granddaughter design were genotyped for 265 genetic markers, most of them microsatellites. These were 16 Holstein families, 3 Simmental families, and 1 Brown Swiss family. The number of sires per breed was 872, 170, and 32, respectively. Two-point recombination rates were estimated both jointly for all breeds and each single breed separately. Of 1168 marker intervals, 865 provided estimates for at least two breeds. Differences between breeds were tested by likelihood ratio tests. Four marker intervals, representing three genomic regions on BTA19, BTA24, and BTA27, show a significant impact of the breed at a false discovery rate of 0.23 and indicate a genetic component of observed heterogeneity of recombination. The variability of recombination rates between cattle breeds might not be a common feature of the whole genome, but rather might be restricted to certain chromosomal segments. Thus, attention should be paid to heterogeneities when pooling data of such regions from different breeds.

Animals↗

Peripheral neuropathy in chronic venous insufficiency.

Chronic venous insufficiency (CVI) of the lower legs may cause tissue damage, but involvement of peripheral nerves is uncertain. We examined 30 patients with CVI and 20 healthy controls using motor and sensory nerve conduction studies, vibration testing and thermotesting, quantitative sudomotor axon-reflex test, and laser Doppler flowmetry. Subjects with possible confounding factors for peripheral neuropathies were excluded. Prolongation of distal motor latency of the peroneal nerve (median, 5.4 versus 4.5 ms; P = 0.02), increased limits for warm (9.60 degrees C versus 5.20 degrees C; P = 0.016) and cold detection (3.45 degrees C versus 1.55 degrees C; P = 0.016) and reduced vibration sense (2.8925 versus 1.1075; P < 0.008) were found. The results demonstrate a disturbance of A-alpha fibers, A-beta fibers, A-delta fibers, and thermoafferent-C fibers, possibly induced by ischemia due to venous microangiopathy and increased endoneurial pressure. Analogous to neuropathic ulcers in diabetes, the CVI-associated neuropathy may also be a cofactor in the development of venous ulcers.

Adult↗

Approaches to estimating daily yield from single milk testing schemes and use of a.m.-p.m. records in test-day model genetic evaluation in dairy cattle.

Statistical models were presented to estimate daily yields from either morning or evening test results. The 64,451 test-day records from 10,392 lactations of 8800 cows were available for analysis from experiments that were designed to investigate the accuracy of an alternate morning and evening four-weekly milk-testing scheme. The experiments were conducted in 152 herds from six German states and covered a span from 1994 to 1998. Milk yield, fat, and protein percentage were recorded for all of the morning and evening milkings. Seven statistical models were fitted to the data to derive formulas for estimating daily yields from morning or evening yields. In general, use of evening milkings less accurately estimated yields than did use of morning milkings. Among the three yield traits the lowest accuracy of estimation of daily yield was found for fat yield. Although the models do not differ much in the correlation between estimated and true daily yields, systematic under- and overestimation of daily yield at the beginning and end of lactation were observed in all models with the exception of model 6, which accounted for heterogeneous variances by parity class, milking interval class, and lactation stage by fitting separate regression formulas within each combination of the three factors. A study to validate the models showed that model 6 is also robust for the analyzed populations. Smoothing model 6 regression formulas across lactation stages caused a systematic pattern of estimation error, although loss in accuracy was minimal by fitting far fewer parameters in the regression formulas. Differences in the accuracy of alternate milking schemes to predict daily yields were found between traits, between morning and evening milkings, and between parity classes. Compared with true daily yields from different lactation stages, variances and correlations of the estimated yields were reduced, which must be accounted for in genetic evaluation. The use of estimated daily yields from morning or evening milkings has a smaller impact on estimated breeding values of bulls than cows. As a result of lower heritability and repeatability of estimated daily yields than true daily yields, the weight on own test-day records for estimating cows' breeding values is lower when cows are in a.m.-p.m. than conventional monthly testing schemes. However, the difference in the weights between estimated and true daily yields decreases as lactation progresses. Use of estimated daily yields is less reliable for estimating breeding value than use of true daily yields.

Animals↗

[Invasive therapeutic strategies in the acute phase of ischemic arterial cerebral infarct].

BACKGROUND: Currently to an increasing extent aggressive therapeutic approaches in ischemic stroke are discussed. These approaches include intraarterial and systemic thrombolysis to reduce infarction size and also decompressive surgical measures to prevent from fatal consequences of elevated intracranial pressure. This report gives an overview over these strategies. Their specific values are discussed. STRATEGIES: In acute vertebrobasilar artery occlusion an attempt of intraarterial thrombolysis is indicated because of the mostly poor prognosis of large brainstem infarction. Acute artery occlusion in carotid territory has a better prognosis, so that the indication of intraarterial thrombolysis has to be regarded more critically. In view of recent reports systemic rt-PA-thrombolysis seems to be justified in well defined cases independently from site of occlusion. At present there is no longer doubt about the benefit of decompressive surgery in space occupying cerebellar stroke. The value of surgery in malignant brain infarction in carotid territory is not clear due to date. Further randomised studies are necessary to learn more about benefit, risks and required proceedings in space occupying supratentorial infarction. CONCLUSIONS: A well defined group of patients suffering from ischemic stroke seems to benefit from aggressive therapeutic approaches in ischemic stroke. Concerning the selection of patients and management of those approaches a close cooperation with an experienced center is required.

Cerebral Infarction↗

[Polyneuropathies from solvents].

Polyneuropathy is a clinically diagnosed disorder. The diagnostic features consist mainly of subjective complaints about distally marked paresthesia or dysaesthesia, pain and motor disturbances like cramps. Neurological examination typically shows weak or absent tendon reflexes (early signs: weak or absent Achilles tendon reflexes), distally marked disturbances of sensitivity (early sign: reduced sense of vibration), atrophic paresis, cranial nerve impairment and disturbances of the autonomic nervous system. Results of additionally performed electrophysiological examinations (nerve conduction studies, vibratometry and thermotesting) contribute to the diagnosis. Polyneuropathy is undoubtedly induced by carbon disulfite, ethylene glycol, n-hexane and methyl-n-butylketone, triorthocresyl phosphate and solvent mixtures. Induction of polyneuropathy is doubtful with the following substances: tetrachloride, trichlorethylene, styrene, toluene. Additional impairment of the central nervous system is often indicated by clinical findings of brisk patellar tendon reflexes or the occurrence of Babinski's sign.

Humans↗

[Friedreich disease. A neurocardiologic syndrome with uncertain nosologic classification of heart involvement].

Friedreich's ataxia (FA) represents a degenerative, genetically determined disease of the nervous system in combination with myocardial affection and in some cases endocrinological disturbances. Manifestation of myocardial involvement usually follows symptoms of nervous system degeneration later in the course, but seems not to be secondary. These cardiac disturbances are the main cause of death in FA-patients. Therapeutic management of heart disease is possible and interdisciplinary neurologic-cardiologic cooperation should start early in the course of FA.

Adult↗

Neurotoxicity of long-term low-level exposure to carbon disulphide: results of questionnaire, clinical neurological examination and neuropsychological testing.

OBJECTIVE: Carbon disulphide (CS2) is highly neurotoxic. There is ample evidence of damage to the peripheral and central nervous system. The air concentration at which such adverse effects can first be observed is presently a subject of controversy. METHODS: In a cross-sectional study of CS2-exposed workers from the viscose industry and healthy controls, data on neurological complaints, basic laboratory diagnosis, clinical neurological examination and neuropsychological testing were evaluated. Data were from 222 workers in the viscose industry exposed to CS2 and 191 employees from the same factory with similar physical and psychological stress factors but without occupational contact with neurotoxic substances. Multiple linear or multiple logistic regression analysis was used to check for statistical differences. RESULTS: The median of the CS2-measurements using personal air sampling was below the current maximum concentration permissible (MAK value) in Germany (10 ppm) in all departments. The threshold limit value was, however, exceeded in almost 10% of the persons investigated. Exposure fluctuated between < 0.2 and 65.7 ppm (median of all departments was 4.02 ppm). As a parameter of internal exposure, CS2-metabolite 2-thio-1,3-thiazolidine-4-carboxylic acid (TTCA) concentrations in the urine of the exposed persons were between < 0.16 and 10.9 mg/g creatinine (median 1.43 mg/g). CONCLUSIONS: Neither an increase in subjective complaints nor an increase in pathological findings in clinical-neurological and neuropsychological examination could be found in persons exposed to CS2 at the exposure levels described.

Adult↗

Electrophysiological investigation of central, peripheral and autonomic nerve function in workers with long-term low-level exposure to carbon disulphide in the viscose industry.

OBJECTIVE: Neurotoxicity of carbon disulphide (CS2) is well known. The air concentration at the workplace at which such adverse effects can first be observed is the subject of controversial discussion. METHODS: In a cross-sectional study on CS2-exposed workers peripheral motor and sensory nerve conduction studies, somatosensory evoked potentials, thermotesting and investigation of forced respiration sinus arrythmia have been carried out. The data from 222 workers exposed to CS2 in the viscose industry were evaluated and compared with data from 191 employees from the same factory with similar physical and psychological stress factors but without detectable occupational contact to neurotoxic substances. Median exposure to CS2 was below the currently valid occupational-medical threshold limit value (MAK-value) of 10 ppm. Multiple linear or multiple logistic regression analysis was used to check for statistical differences. RESULTS: Binary evaluation (comparison of exposed persons versus controls after multiple linear regression) revealed a slightly lower value in the exposed group for the motor nerve conduction velocity (MNCV, -0.76 m/s, median 48 m/s), but a long way from pathological thresholds. No dose-response relationship could be found within the exposed group for any evaluation criteria of CS2-exposure. Somatosensory evoked potentials, thermotesting and analysis of heart rate variability yielded no indication of a neurotoxic effect of CS2. CONCLUSION: Isolated decrease of MNCV in binary evaluation is, with regard to the known mechanism of CS2-neurotoxicity and the lack of a dose-response relationship, obviously not due to toxic effects. We interpret our results as showing that an adverse effect of carbon disulphide at the exposure ranges found was not detectable in the exposed group.

Adult↗