Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome.
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Abnormalities, Multiple↗
Biomedical subjects
E Meyer
Publications and source records attributed to E Meyer.
Apoptosis in myocarditis and dilated cardiomyopathy: does enterovirus genome persistence protect from apoptosis? An endomyocardial biopsy study.
UNLABELLED: The purpose of this study was to examine the role of apoptosis in myocarditis and dilated cardiomyopathy. Apoptosis is an active energy-consuming mechanism of cell death in several cardiac diseases in different quality and quantity. METHODS: Endomyocardial biopsies from 81 patients with active (1) and chronic myocarditis (10), dilated cardiomyopathy with inflammation (DCMi; 10) and without inflammation (DCM; 20), with borderline myocarditis and positive PCR for cytomegalovirus-DNA (6), adenovirus-DNA, or enterovirus-RNA (7), and controls (17) were analysed. Apoptosis was detected by using the TUNEL method. The highest rate of apoptotic cardiocytes was found in active and chronic myocarditis. One patient with severe active myocarditis demonstrated 6.15% of apoptotic cardiocytes. Mean percentage of apoptotic cardiocytes in chronic myocarditis was significantly increased (0.61+/-1.25%) when compared to controls (0.01+/-0.04%, P<.05). Particularly, patients with cytomegalovirus-DNA persistence in borderline myocarditis had an elevated rate of apoptosis (0.34+/-0.68%, P<.05). Increased rates of apoptosis were found in borderline myocarditis with adenovirus-DNA persistence (0.20+/-0.57%) and in DCM (0.06+/-0.15%). Only a nonsignificant increase of apoptotic cardiocytes was found in DCMi (0.03+/-0.08%). No apoptosis was found in patients with enteroviral genome persistence in borderline myocarditis. CONCLUSIONS: Apoptosis of cardiac cells is increased in myocarditis and dilated cardiomyopathy, being highest in severe active myocarditis. Apoptosis thus contributes to cell death in active myocarditis and may play a role not to be neglected in dilated cardiomyopathy. Enteroviruses seem to have anti-apoptotic effects, because no apoptosis at all was found in the myocardium.
Apoptosis↗
Does Paramecium primaurelia use a different genetic code in its macronucleus?
It has long been known that messenger RNAs (mRNAs) of ciliates and in particular of Paramecium are not translated well in heterologous in vitro translation systems. Recently, we have demonstrated for Paramecium primaurelia that this phenomenon results from the presence of well-defined blocking sites in the coding sequences of almost all mRNAs, and that these sites are an intrinsic feature of the primary as opposed to the secondary structure of the mRNAs. Here we show that both the gene and the mRNA for the G surface antigen of P. primaurelia contain numerous TAA and TAG codons scattered throughout their coding sequences. We propose that these codons do not represent termination codons in P. primaurelia but instead code for glutamic acid or glutamine and that the in vitro translation of Paramecium mRNAs is blocked by their presence.
Animals↗
Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering.
Several short tandem repeat polymorphism loci at the non-recombining part of the Y chromosome have been described recently and are now widely used for the investigation of the history and the diversity of man. The tetranucleotide repeat polymorphism at the DYS389 locus consists of two repetitive stretches with different numbers of (TCTG)n (TCTA)m repeat units. To study the overall variability of this locus, 768 alleles from males from 10 human populations (two sub-Saharan African, four Caucasoid and four Asian/Amerind populations) were investigated. The alleles found in the populations of different geographic origin exhibited remarkable differences in the number and arrangement of repeats in the two repetitive stretches and up to nine different sequence variants for a single fragment length have been detected. So far 53 different alleles, i.e. haplotypes, have been observed. Analysis of molecular variance (AMOVA) indicates that at least 24.5% of the total genetic variance was found between the populations and that these differences were significant in most pairwise comparisons. We propose a model, in which both founder effects and genetic drift together with single step replication slippage mutations explain the picture of haplotype diversity observed with this single locus.
Alleles↗
Local and systemic effects of endotoxin mastitis on the chemiluminescence of milk and blood neutrophils in dairy cows.
The local and systemic effects of intramammary lipopolysaccharide (LPS) injection on the chemiluminescence (CL) of milk and blood polymorphonuclear leukocytes (PMN) were investigated in six healthy early lactation cows. Clinical signs of acute mastitis such as fever, increased heart rate and a decreased milk production were observed in all cows. Before LPS challenge, the CL activity of milk PMN was significantly lower than that of blood PMN (P < 0.01). A significant negative correlation was found between pre-challenge milk and blood PMN CL and, the decreased milk production in unchallenged quarters. The CL activity of milk PMN from LPS-injected quarters increased following LPS challenge, whereas it remained unchanged in control quarters. The CL activity of blood PMN showed a biphasic increase, with two peaks and a valley below pre-challenge CL activity (P < 0.01). At post-challenge hours (PCH) 6 and 12, the CL activity of milk PMN from LPS-injected quarters exceeded that of blood PMN (P < 0.05 and P < 0.001, respectively). The decreased CL activity of blood PMN and the enhanced CL activity of milk PMN during endotoxin-induced mastitis was reflected by changes in the shape of the CL curve. In blood PMN, a decrease of the second peak of the CL curve suggests that the myeloperoxidase (MPO)-H2O2 system is impaired during endotoxin-induced mastitis. In contrast, the MPO-H2O2 system was enhanced in milk PMN from challenged quarters. The highest duration and intensity of reactive oxygen intermediate (ROI) production was observed in milk PMN from LPS-injected quarters at PCH 12. The increased viability of PMN in LPS-injected quarters and to a lesser extent in control quarters suggests possible effects of both facilitated diapedesis and inflammatory mediators on milk PMN survival. In conclusion, our results suggest that a combination of local and systemic action of E. coli endotoxin is involved in the priming of milk PMN during mastitis.
Animals↗
PET studies of phonetic processing of speech: review, replication, and reanalysis.
Positron emission tomography was used to investigate cerebral blood flow (CBF) changes associated with the processing of speech. In a first experiment, normal right-handed volunteers were scanned under two conditions that required phonetic processing (discrimination of final consonants and phoneme monitoring), and one baseline condition of passive listening. Analysis was carried out by paired-image subtraction, with MRI overlay for anatomical localization. Comparison of each phonetic condition with the baseline condition revealed increased CBF in the left frontal lobe, close to the border between Broca's area and the motor cortex, and in a left parietal region. A second experiment showed that this area was not activated by a semantic judgement task. Reanalysis of data from an earlier study, in which various baseline conditions were used, confirmed that this region of left frontal cortex is consistently involved in phonetic tasks. The findings support a model whereby articulatory processes involving a portion of Broca's area are important when phonetic segments must be extracted and manipulated, whereas left posterior temporal cortex is involved in perceptual analysis of speech.
Brain↗
Screening, identification, and quantitation of benzodiazepines in postmortem samples by HPLC with photodiode array detection.
A high-performance liquid chromatographic method has been developed for the simultaneous analysis of eight frequently used benzodiazepines and some of their metabolites in postmortem samples. The method includes a liquid-liquid extraction with n-hexane-ethyl acetate (70:30, v/v), gradient elution of a C8 reversed-phase column with an alkaline water-methanol eluent free of buffer salts, and photodiode array detection. This allows rapid detection, a purity check, identification, and quantitation of the eluting peaks. Recovery and linearity data are good for the chosen parent compounds. The validated procedure has been applied routinely in forensic toxicological analyses. The elimination of the buffer from the eluent results in a robust procedure, free of technical problems and long rinsing periods.
Acetates↗
Determination of chloral hydrate and metabolites in a fatal intoxication.
A young woman (32 years old) was found dead in her house. Screening of postmortem blood with enzyme multiplied immunoassay (EMIT) detected benzodiazepines, salicylic acid derivatives, and caffeine. These compounds were present in nontoxic concentrations as confirmed by thin-layer chromatography and high-performance liquid chromatography. The Fujiwara-Ross reaction on blood revealed the presence of chlorinated hydrocarbons in high concentrations. An optimized gas chromatographic method with electron capture detection allowed the identification and quantitation of chloral hydrate and both its metabolites, 2,2,2-trichloroethanol and trichloroacetic acid, in the available postmortem samples. The tissue concentrations indicated that chloral hydrate ingestion could be identified as the cause of this fatality.
Adult↗
Systematic toxicological analysis of basic drugs by gradient elution of an alumina-based HPLC packing material under alkaline conditions.
A high-performance liquid chromatographic system based on gradient elution of an alumina packing material coated with polybutadiene is presented. The chromatographic eluent is a mixture of methanol and water, both containing 0.0125M NaOH. The effluent is monitored by photodiode array detection. The system allows detection and identification of more than 130 toxicologically relevant substances (mainly basic compounds) and has already been successfully applied to screen more than 500 extracts of fresh or postmortem specimens (blood, urine, tissue homogenates, and stomach contents).
Chromatography, High Pressure Liquid↗
Analysis of zopiclone (Imovane) in postmortem specimens by GC-MS and HPLC with diode-array detection.
A 26-year-old black female was found dead at home. Her mouth was covered with a fluid containing chalky particles. Empty strips of Imovane (zopiclone) and an empty bottle of Fortal (pentazocine) were also found. No urine was available at autopsy. Screening of postmortem blood and stomach contents with enzyme-multiplied immunoassay technique (EMIT) detected only caffeine. Further screening using routine high-performance liquid chromatography (HPLC) with diode-array detection and gas chromatography (GC) with mass spectrometric detection revealed the presence of large amounts of pentazocine in the blood and stomach contents. In the HPLC chromatogram, a second peak that was only partially resolved from the solvent front was observed. Thin-layer chromatography demonstrated the presence of zopiclone, but optimized HPLC and GC conditions had to be used for proper identification and quantitation. This case illustrates the fact that zopiclone can be easily overlooked during routine forensic screening.
Adult↗
Identification of alpha-phenylethylamine in judicial samples.
alpha-Phenylethylamine was recently identified in samples from several judicial cases using chromatographic (high-performance liquid chromatography-diode-array detection, gas chromatography-mass spectrometry, and gas chromatography-Fourier transform infrared detection) and spectrometric (nuclear magnetic resonance) techniques. In the first case, 1 kg of a white powder was found in a basement laboratory. It contained caffeine and more than 15% alpha-phenylethylamine. In the second case, two white powders were seized from a female. One powder consisted of pure amphetamine, and the other was a mixture of caffeine, amphetamine, and alpha-phenylethylamine. Four months later, a couple, who were known drug users, were found dead in their apartment. Urine samples of both victims contained large amounts of amphetamine together with alpha-phenylethylamine. Recently, 0.13 kg of a white powder and 0.30 kg of an orange powder were seized during a law enforcement operation. Both powders were mixtures of caffeine, amphetamine, and alpha-phenylethylamine. The data presented demonstrate the recent and unrelated repetitive occurrence of alpha-phenylethylamine in the circuit of illicit drugs.
Chromatography, High Pressure Liquid↗
Succinic acid is not a suitable indicator of suxamethonium exposure in forensic blood samples.
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Forensic Medicine↗
Tissue distribution of trichloroethylene and its metabolites in a forensic case.
A fatality that was due to the ingestion of the halogenated solvent trichloroethylene is presented. The decedent was a 43-year-old male who was found dead at his home. Screening of the blood and stomach contents with the enzyme multiplied immunoassay technique and radioimmunoassay demonstrated the presence of ethanol, amphetamine-like compounds, caffeine, cotinine, and acetaminophen. These compounds were present in toxicologically irrelevant concentrations as confirmed by thin-layer chromatography, high-performance liquid chromatography, and gas chromatography (GC). The Fujiwara reaction was performed on all available matrices, and it revealed the presence of chlorinated hydrocarbons in high concentrations. A specific GC method with electron capture detection allowed the quantitation of trichloroethylene and its metabolites trichloroethanol and trichloroacetic acid in different matrices. GC with Fourier-transform infrared detection was used for the confirmation of the identity of trichloroethylene.
Acetaminophen↗
Tissue distribution of amphetamine isomers in a fatal overdose.
A young man (22 years old) died of a cardiorespiratory arrest a few hours following admission to the emergency department of a hospital. He was found lying seriously ill in the parking lot of a dance club. Screening of postmortem blood and urine with enzyme multiplied immunoassay (EMIT) detected only amphetamines, caffeine, and cotinine. Further screening of blood, urine, and stomach contents with thin-layer chromatography (TLC) and high-performance liquid chromatography (HPLC) was negative for all three matrices. Specific conditions for amphetamines were used for the gas chromatographic (GC) screening (GC-mass spectrometric [MS] and GC-nitrogen-phosphorus detection). This resulted in the preliminary identification of amphetamine in both blood and urine. Confirmation of the presence of amphetamine in all available postmortem specimens was provided by mass and infrared spectral data (GC-MS and GC-Fourier transform infrared spectrometry) after derivatization. Quantitative results and differentiation between the enantiomers of amphetamine were obtained after chiral derivatization. The calculated concentrations disclosed amphetamine ingestion as the cause of this fatality.
Adult↗
Relevance of toxicological screening for chloroquine in nonmalarious areas.
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Adult↗
Testing for driving under the influence of ethanol: misleading results caused by ether.
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Accidents, Traffic↗
Analysis of fenthion in postmortem samples by HPLC with diode-array detection and GC-MS using solid-phase extraction.
Fenthion (O,O-dimethyl-O-[3-methyl-4-(methylthio)-phenyl]-thiophos-phate ) is an organophosphate insecticide. A specific method to quantitate fenthion in postmortem matrices with solid-phase extraction combined with high-performance liquid chromatography-diode-array detection (HPLC-DAD) and gas chromatography-mass spectrometry (GC-MS) is presented. Fenitrothion (O,O-dimethyl-O-[3-methyl-4-nitrophenyl]-thiophosphate) is selected as the internal standard. For sample cleanup, a simple but selective solid-phase extraction is chosen after comparison with traditional liquid-liquid extraction procedures. Homogenized and appropriately diluted aqueous samples are applied, and the analytes are desorbed with 5 mL of dichloromethane. Aliquots of the extract are used for HPLC-DAD and GC-MS analysis, Liquid and GC conditions are as follows: gradient elution with a mixture of methanol and water (10:90 to 90:10, v/v) containing 0.0125M NaOH on an Aluspher RP-Select B column monitoring at 250 nm, and temperature programming from 60 to 300 degrees C on a dimethylpolysiloxane column in the SCAN mode, respectively. This method is applied to a suicidal case involving unsuspected acute intoxication with fenthion (concentration in blood, 3.8 micrograms/mL).
Aged↗
Epigenetic regulation of programmed genomic rearrangements in Paramecium aurelia.
In ciliates, development of the polyploid somatic macronucleus after sexual events involves extensive and reproducible rearrangements of the germ-line genome, including chromosome fragmentation and precise excision of numerous internal sequence elements. In Paramecium aurelia, alternative macronuclear versions of the same germ-line genome can be maternally inherited across sexual generations, showing that rearrangement patterns are not strictly determined by the germ-line sequence. Homology-dependent maternal effects can be evidenced by transformation of the vegetative macronucleus with cloned macronuclear sequences: new fragmentation patterns or internal deletions are specifically induced during differentiation of a new macronucleus, in sexual progeny of transformed clones. Furthermore, transformation of the maternal macronucleus with germ-line sequences containing internal eliminated sequences (short single-copy elements) can result in a specific inhibition of the excision of the same elements in the zygotic macronucleus. These experiments show that the processing of many germ-line sequences in the developing macronucleus is sensitive to the structure and copy number of homologous sequences in the maternal macronucleus. The generality and sequence specificity of this trans-nuclear, epigenetic regulation of rearrangements suggest that it is mediated by pairing interactions between germ-line sequences and sequences imported from the maternal macronucleus.
Animals↗