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Biomedical subjects

W Krämer

Publications and source records attributed to W Krämer.

At least 19 recordsLinked to original sources

Detection and characterization of SNPs useful for identity control and parentage testing in major European dairy breeds.

We propose the use of single nucleotide polymorphisms (SNPs) instead of polymorphic microsatellite markers for individual identification and parentage control in cattle. To this end, we present an initial set of 37 SNP markers together with a gender-specific SNP for identity control and parentage testing in the Holstein, Fleckvieh and Braunvieh breeds. To obtain suitable SNPs, a total of 91.13 kb of random genomic DNA was screened yielding 531 SNPs. These, and 43 previously identified SNPs, were subjected to the following selection criteria: (1) the frequency of the minor allele must be larger than 0.1 in at least two of the three examined breeds, and (2) markers should not be linked closely. Allele frequencies were estimated by analysing sequencing traces of pooled DNA or by genotyping individual DNA samples. The selected SNP loci were physically mapped by radiation hybrid mapping or by fluorescence in situ hybridization, and tested against the neutral mutation hypothesis. The presented marker set theoretically allows probabilities of identity less than 10(-13) for individual verification and exclusion powers exceeding 99.99% for parentage testing.

Agriculture↗

Effects of DGAT1 variants on milk production traits in German cattle breeds.

Various QTL mapping experiments led to the detection of a QTL in the centromeric region of cattle chromosome 14 that had a major effect on the fat content of milk. Recently, the gene encoding diacylglycerol O-acyltransferase (DGAT1) was proposed to be a positional and functional candidate for this trait. This study investigated the effects of a nonconservative lysine to alanine (K232A) substitution in DGAT1, which very likely represents the causal mutation, on milk production traits. Existing granddaughter designs for Fleckvieh and German Holstein, the two major dairy/dual-purpose breeds in Germany, were used to estimate allele frequencies and gene substitution effects for milk, fat, and protein yield, as well as fat and protein content. A restriction fragment length polymorphism assay was applied to diagnose the K232A substitution in DGAT1. Estimates of the allele frequencies for the lysine-encoding variant were based on maternally inherited alleles in sons and amounted to 0.072 for Fleckvieh and 0.548 for German Holstein. Effects of DGAT1 variants on content traits were pronounced; estimates of the gene substitution effect for the lysine-encoding variant were 0.35 and 0.28% for fat content and 0.10 and 0.06% for protein content in Fleckvieh and German Holstein, respectively. Conversely, negative effects of the lysine variant of -242 to -180 kg for Fleckvieh and -260 to -320 kg for German Holstein were revealed for milk yield from first to third lactation, resulting in enhanced fat yield of 7.5 to 14.8 kg in Fleckvieh and 7.6 to 10.7 kg in German Holstein. For protein yield, however, mainly negative effects of -3.6 to 0.2 kg in Fleckvieh and -4.8 to -5.2 kg in German Holstein were observed. Pearson correlations between residuals of milk yield and content traits were decreased when omitting DGAT1 effects in the analysis, thereby indicating that DGAT1 contributes to negative correlations between these traits. Molecular tests allow for the direct selection among variants; however, the benefits of the alternative alleles depend on economic weights given to the different milk production traits in the breeding goal.

Acyltransferases↗

A genome scan for quantitative trait loci affecting milk production in Norwegian dairy cattle.

An autosomal genome scan for quantitative trait loci (QTL) affecting milk production traits was carried out on the Norwegian Dairy Cattle population. Six half-sibling families with a total of 285 sons organized according to a granddaughter design were analyzed by a multiple marker regression method. Suggestive QTL for one or several of the five milk traits (milk yield, protein percentage, protein yield, fat percentage and fat yield) were detected on chromosomes 3, 5, 6, 11, 13, 18 and 20. Among these results, the findings on chromosomes 3, 6, and 20 are highly supported by literature. The most convincing result was found close to marker FBN9 on chromosome 6, where a QTL was detected with alleles that cause a marked reduction in both protein and fat percentages and an increase in milk yield. The results for fat and protein percentage were highly significant even after accounting for multiple testing across the genome. Using bootstrapping, a 95% confidence interval for the position of the QTL for the percentage traits on chromosome 6 was estimated to 16 cM.

Animals↗

[Prehospital emergencies (emergencies and acute cases) in childhood].

OBJECTIVE: To determine incidence and management of prehospital emergencies in children. METHODS: Between November 15, 1994 and March 14, 1995 in the City of Mainz (200,000 inhabitants) children with the diagnosis of a prehospital emergency were identified. RESULTS: 390 children were discovered, 62% in the age group 0-3 years. 85% of the emergency conditions occurred at home. In 71% the medical practitioner providing prehospital care was a paediatrician, in 14% an emergency physician. 48% of the children were transported to the Children's Hospital by the parents. 32 different types of emergency were diagnosed, 8 types more than 10 times. A retrospective analysis of 386 emergencies demonstrated an acute life-threatening situation in 12%. Lacking a final diagnosis in 19%, first and final diagnosis were identical in 64% of all children evaluated. CONCLUSIONS: In Germany acute life-threatening emergencies are rare. Paediatricians are mainly involved also in the care of children with emergency conditions. Most pediatricians and nonpaediatricians are familiar with the relevant prehospital emergency conditions in the young children mainly concerned.

Acute Disease↗

Congenital diaphragmatic hernia: ultrasonic measurement of fetal lungs to predict pulmonary hypoplasia.

OBJECTIVE: The purpose of this study was to assess the value of biometric lung measurements for the prediction of severe fetal pulmonary hypoplasia in congenital diaphragmatic hernia and to determine whether a correlation between lung measurements and autopsy findings or neonatal outcome could be established. DESIGN: Prospective study, between 1991 and 1997. SUBJECTS: Nineteen fetuses with congenital diaphragmatic hernia. METHODS: In addition to standard biometry, sonographic measurement of the transverse thoracic diameter, sagittal thoracic diameter, fetal lung diameters at the level of the four-chamber view and lung/thoracic circumference ratio were performed. These were compared with the standard curves defined by Merz and colleagues. Autopsy examinations were performed to determine lung weight, lung weight/body weight ratio and radial alveolar count. RESULTS: Five fetuses (26%) were terminated before 24 weeks of gestation. All of these fetuses had lung measurement values below the 5th centile. Eleven of 14 fetuses (78.6%) with pulmonary hypoplasia diagnosed after 24 weeks of gestation died postnatally. The mortality rate was 70% (7/10) in the fetuses without associated anomalies. The sonographic diagnosis of fetal pulmonary hypoplasia was made in all fetuses who died postnatally. All fetuses with a lung diameter/thoracic circumference ratio below 0.09 died. Three fetuses, which had values within the normal range, survived. In contrast, measurements of the bony thorax (transverse and sagittal thoracic diameters, thoracic circumference) did not provide an indication of the presence of fetal pulmonary hypoplasia. Pulmonary hypoplasia was confirmed at autopsy in all fetuses on the basis of lung weight, lung/body weight ratio or radial alveolar count. Concomitant with pulmonary hypoplasia was polyhydramnios in ten fetuses (71.4%), mediastinal shift in 11 fetuses (78.6%), intrathoracic herniated stomach in six fetuses (42.9%) and associated malformations in four fetuses (28.6%). Postnatal mortality for these conditions was 80%, 78.6%, 100% and 100%, respectively. Postnatal mortality was 75%, 70% and 100% in the fetuses with an isolated diaphragmatic hernia. CONCLUSION: The results of this investigation suggest that the assessment of fetal lung diameter and the use of the lung diameter/thoracic circumference ratio are further useful prognostic parameters in the management of congenital diaphragmatic hernia.

Biometry↗

Focal inflammatory infiltrations in gastric biopsy specimens are suggestive of Crohn's disease. Crohn's Disease Study Group, Germany.

BACKGROUND: Crohn's disease is a systemic inflammatory disease that may involve all regions of the gut. METHODS: Thirty-six patients with Crohn's disease and 36 age- and sex-matched control patients were prospectively evaluated by upper endoscopy. Biopsy specimens were taken from the oesophagus, duodenum, and 10 locations in the antrum and corpus. RESULTS: Granulomas were found in four patients (11.13%) with Crohn's disease but in none of the control patients (P > 0.5). In 23 of 36 patients (63.9%) with Crohn's disease focal inflammatory infiltrations were found, as compared with 7 of 36 (19.4%) of the controls (P < 0.001). For focal inflammatory infiltrations, an odds ratio of 7.33 (2.55-21.38) was calculated, which increased to 20.04 (4.07-98.45) when only specimens from the angulus were considered. Helicobacter pylori infection was present in 13 of 36 controls (36.1%) and in 3 of 36 patients (8.3%) with Crohn's disease (P = 0.009). CONCLUSION: These data suggest that Crohn's disease is typically associated with focal inflammatory infiltrations of the gastric mucosa.

Adult↗

Thiosulphate and hydroxocobalamin prophylaxis in progressive cyanide poisoning in guinea-pigs.

The duration of action of the cyanide antidotes sodium thiosulphate and hydroxocobalamin was investigated in guinea-pigs after prophylactic administration before a long-term infusion of NaCN. The parameter for the diminution of the antidote action was the point of time at which the concentration of HCN in the exhaled air of the animals exceeded 100 nmol/kg per min. The time taken to reach this threshold level in the control animals was 12 min. While the threshold level could be extended only to 35 min with hydroxocobalamin (300 mg/kg i.v.) the protective action of sodium thiosulphate (100, 500 and 1000 mg/kg i.v.) persisted dose dependently for about 1, 2 and 4 h, respectively. Additionally we found a plasma half-life of sodium thiosulphate in guinea-pigs of 26 min. This value corresponds approximately to the plasma half-life of sodium thiosulphate in humans given in the literature. Because of the large injection volume necessary, sodium thiosulphate is not suitable for prophylactic use in man.

Animals↗

[Clinical experiences with a variable balanced diet in a neurological intensive care station].

The variable balanced diet (Berodiät V) consisting of only a few requirement-adapted components can be used for longterm tube feeding in many patients of a neurological intensive care unit. This extraordinarily high energy supply necessary in this group of patients can be accomplished without difficulties, which makes it possible to dispense with longterm parenteral feeding. Preparation and administration are unproblematic. Cases of intolerance were observed only, if the rate of administration was too high.

Adolescent↗

[Treatment of tonsillitis with dequalinium chloride].

44 children with acute tonsillitis were treated without the usual penicillin therapy. 22 children received lozenges containing Dequalinium chloride, 22 children received void lozenges under conditions of a double blind study. The results show that the treatment with Dequalinium chloride did not influence conditions caused by haemolytic streptococci -- verified by bacteriological examinations of pharyngeal smears -- inspite of its efficiency in vitro. Also general symptoms like fever, leukocytosis and rapid erythrocyte sedimentation rate were not influenced by Pequalinium chloride. Local symptoms like sore throat, tonsillar redness and exsudation were influenced beneficially. It can therefore be assumed that in cases of acute tonsillitis penicillin therapy is not necessary except in cases of streptococci infections. These should be excluded by pharyngeal smear. The medium of Liebermeister and Braveny is a very simple indicator to differentiate between tonsillitis caused by streptococci and tonsillitis of other origin.

Child↗