A "new" coronary anomaly: origin of the right coronary artery below the aortic valve.
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Aortic Valve↗
Biomedical subjects
H Thiele
Publications and source records attributed to H Thiele.
Diagnostic value of intraoperative swabs of heart valves in infective endocarditis.
BACKGROUND AND AIM OF THE STUDY: Intraoperative swabs of heart valves are obtained regularly from patients undergoing heart valve surgery for infective endocarditis (IE) in order to confirm the preoperative diagnosis and to adjust the antibiotic regimen. The study aim was to assess the diagnostic value of intraoperative swabs of heart valves in IE. METHODS: A total of 83 patients was referred for surgical treatment of active IE between October 1994 and May 1999. Preoperatively, microorganisms were isolated using a minimum of two positive blood cultures; results were compared with those obtained from intraoperative heart valve swab cultures. RESULTS: Preoperatively, 73 patients (88%) had a positive blood culture, and 10 (12%) had culture-negative endocarditis. The intraoperative swab confirmed the preoperative diagnosis in 31 cases (37%). Bacteria were isolated in three of the ten patients with preoperative culture-negative IE. Despite positive histopathological findings in seven patients, no microorganisms were cultured either pre- or intraoperatively. Among the remaining 42 patients (51%) with active IE, 25 valve cultures were sterile and 17 valve swabs were presumed to be contaminated. CONCLUSION: In patients with active IE in whom the causative agent could be isolated and identified before surgery, intraoperative valve swabs did not contribute further to patient management. In isolating contaminants, the risk of inappropriate modification of the antibiotic regimen is imminent. The diagnostic validity in culture-negative IE appears negligible.
Adolescent↗
[Idiopathic right ventricular tachycardia or arrhythmogenic right ventricular tachycardia?].
HISTORY: While cycling a 38-year-old man suddenly experienced palpitations associated with marked weakness. 90 min later his general practitioner, having diagnosed a ventricular tachycardia (VT) with a rate of 218/min, terminated it by a drug injection. INVESTIGATIONS: Electrocardiography (ECG), echocardiography and biventricular cardiac catheterization with right ventricular contrast injection failed to provide any evidence of structural abnormality. However, ergometry and EPS with programmed ventricular stimulation induced VT of identical morphology (left bundle branch bloc [LBBB] with right axis deviation [RAD]). TREATMENT AND COURSE: Idiopathic right-ventricular outflow tract tachycardia (IRVT) having been diagnosed, the patient was put on a maintenance dose of 50 mg/d atenolol. After 6 months without symptoms he again experienced several attacks of tachycardia. Resting ECG merely revealed an epsilon potential and negative T waves in V1-V3. Right ventricular contrast injection revealed inferolateral dyskinesia. EPS demonstrated both the known VT and a second, morphologically different one (LBBB with LAD). These findings indicated arrhythmogenic right-ventricular cardiomyopathy (ARCV). A cardioverter/defibrillator was implanted (ICD) and over the subsequent 8 months he had six episodes of VT which were quickly terminated by the ICD. CONCLUSION: At first presentation of right-ventricular outflow tract tachycardia it is often not possible to differentiate between IRVT and arrhythmogenic RV cardiomyopathy. The two being significantly different in prognosis and treatment, follow-up monitoring is essential to establish the definitive diagnosis.
Adult↗
[Intravenous long-term thrombolysis of an occluded aortocoronary venous bypass graft].
A 41-year-old man presented with progressive unstable angina pectoris during the last three hours. At admission the electrocardiogram and cardiac specific enzymes showed no signs of ischemia. During the next 24 hours the electrocardiogram and cardiac enzymes developed signs of a non-Q-wave anterolateral infarction. The patient had known coronary artery disease and underwent aortocoronary bypass surgery seven years ago. Coronary angiography after admission revealed a chronically occluded vein graft to the right coronary artery (RCA) and a subtotal occlusion of the vein graft to the left anterior descending artery (LAD) with a TIMI flow 0-I. Because of unfavorable results of mechanical revascularization of occluded bypass grafts and high risk of catheter dislocation and bleeding complications of intracoronary local thrombolysis, the patient subsequently received intravenous long-term thrombolysis for 24 hours. After successful lysis of the thrombus the bypass graft to the LAD showed two severe stenoses but blood flow has returned to normal. Three days later percutaneous transluminal coronary angioplasty (PTCA) and stent implantation were carried out with a good primary angiographic result. After 6 months the patient was still asymptomatic and a treadmill exercise test showed no signs of ischemia.
Adult↗
Expression of the gene and processed pseudogenes encoding the human and rabbit translationally controlled tumour protein (TCTP).
In humans and rabbits, the TPT1 gene encoding the translationally controlled tumour protein TCTP generates two mRNAs (TCTP mRNA1 and TCTP mRNA2) which differ in the length of their 3' untranslated regions. The distribution of these mRNAs was investigated in 10 rabbit and 50 human tissues. They were transcribed in all tissues investigated, but differed considerably in their quantity and ratio of expression. This indicates an extensive transcriptional control and involvement of tissue-specific factors. In the rabbit genome numerous processed, intronless pseudogenes were detected. Four, corresponding to both types of mRNAs, were sequenced and analysed in detail; all displayed only few mutations and were either preserved completely in the original amino acid sequence of the intron containing gene, or contained only minor mutations in the coding region which did not interrupt the open reading frame. In the mRNA population of rabbit reticulocytes two additional TCTP RNAs of the TCTP mRNA2 type were detected, which have the characteristics of pseudogene transcripts. Pseudogene transcription was supported further by CAT reporter gene assays showing substantial promoter activity of 5'-flanking regions of two TPT1 pseudogenes.
Animals↗
[A modular software concept for individual numerical simulation (FEM) of the human mandible].
A new modular software concept for individual numerical simulation of the human mandible using the finite element method (FEM) is presented. The main task is an individual analysis of regional stress and stress-compatibility on the basis of computed tomographic data in individual patients. Simulation should, however, also be possible in parallel with biomechanical experiments, or for further research projects. For this purpose, rapid and uncomplicated generation of the FEM model, easy modification of input data, and short computation times are required. Practical use in the clinical setting makes appreciable additional demands on the individual software components.
Biomechanical Phenomena↗
Tissue-specific translational regulation of alternative rabbit 15-lipoxygenase mRNAs differing in their 3'-untranslated regions.
By screening a rabbit reticulocyte library, an alternative 15-LOX transcript of 3.6 kb (15-LOX mRNA2) was detected containing a 1019 nt longer 3'-untranslated region (UTR2) than the main 2.6 kb mRNA (15-LOX mRNA1). In anaemic animals, northern blotting showed that 15-LOX mRNA2 was predominantly expressed in non-erythroid tissues, whereas 15-LOX mRNA1 was exclusively expressed in red blood cells and bone marrow. The 15-LOX 3'-UTR2 mRNA2 contained a novel 8-fold repetitive CU-rich motif, 23 nt in length (DICE2). This motif is related but not identical to the 10-fold repetitive differentiation control element (DICE1) of 19 nt residing in the 15-LOX UTR1 mRNA1. DICE1 was shown to interact with human hnRNP proteins E1 and K, thereby inhibiting translation. From tissues expressing the long 15-LOX mRNA2, two to three unidentified polypeptides with molecular weights of 53-55 and 90-93 kDa which bound to DICE2 were isolated by RNA affinity chromatography. A 93 kDa protein from lung cytosol, which was selected by DICE2 binding, was able to suppress translational inhibition of 15-LOX mRNA2, but not of 15-LOX mRNA1, by hnRNP E1. A possible interaction between DICE1/DICE2 cis / trans factors in translational control of 15-LOX synthesis is discussed. Furthermore, the 3'-terminal part of the highly related rabbit leukocyte-type 12-LOX gene was analysed. Very similar repetitive CU-rich elements of the type DICE1 (20 repeats) and DICE2 (nine repeats) were found in the part corresponding to the 3'-UTR of the mRNA.
3' Untranslated Regions↗
Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.
Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.
Abortion, Induced↗
Features of mammalian lipoxygenases.
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Animals↗
Expression of leukocyte-type 12-lipoxygenase and reticulocyte-type 15-lipoxygenase in rabbits.
From a rabbit reticulocyte library a full length cDNA was isolated which predicted a novel lipoxygenase (LOX) sharing 99% identical amino acids with the rabbit 15-lipoxygenase. HPLC product analysis of the bacterially expressed protein identified it as a leukocyte-type 12-lipoxygenase (1.12-LOX). This proves the co-expression of a 15-lipoxygenase and a 1.12-lipoxygenase in one mammalian species. Among the six amino acids that are different to rabbit 15-lipoxygenase, leucine 353 is shown to be the primary determinant for 12-positional specificity. In the 3'-untranslated region of the 12-LOX-mRNA a CU-rich, 20-fold repetitive element has been found, closely related to the differentiation control element (DICE) of the rabbit 15-LOX-mRNA which is organized by ten repeats of 19 bases. By genomic PCR the 3'-terminal part of the gene for the novel 12-lipoxygenase containing the introns 10-13 has been amplified and sequenced. The introns were very similar in length to the corresponding 15-lipoxygenase introns with 89% to 95% identical nucleotide sequences. By screening a rabbit reticulocyte library an alternative 15-lipoxygenase transcript of 3.6 kb has been detected containing a 1019 nucleotides longer 3'-untranslated region (UTR2) than the main 2.6 kb mRNA. The determination of the tissue distribution by Northern blotting showed that the 3.6 kb mRNA2 was only expressed in non-erythroid tissues, whereas the 2.6 kb mRNA1 was exclusively expressed in reticulocytes. The only cell type which has been found to express the 1.12-lipoxygenase abundantly are monocytes. The results indicate that the expression of 1.12-lipoxygenase and 15-lipoxygenase is highly regulated. The UTR2 of the 15-LOX-mRNA2 contained a novel eight-fold repetitive CU-rich motif of 23 bases length which is related but not identical to the DICE of 19 bases in the UTR1. The analysis of a genomic recombinant of the complete 9.0 kb Alox15 gene confirmed that UTR1 and UTR2 are not interrupted by an additional intron.
Alternative Splicing↗
[Solitary juvenile cyst of the heel bone. Two case reports and review of the literature].
The calcaneus is a uncommon site for a unicameral solitary bone cyst. However, because of the concentration of forces through the heel, such solitary bone cysts are usually symptomatic, depending on the proximity to the joint and the size of the cyst and therefore require in most cases surgical treatment. This is a report about two patients with a solitary bone cyst of the os calcis in 1996 and 1997. The diagnosis was confirmed radiologically and histologically. The standard therapie in both cases was the curretage of the cyst by packing the defect with bone graft from the pelvis. The author reviewed the literature concerning ethiology, diagnosis and treatment of unicameral solitary bone cysts of the calcaneus. The diagnosis cannot be based solely on radiological findings because of the variation of solitary bone cysts and the special forms, such as calcifying solitary bone cysts. Therefore exact histological diagnosis is of particular importance.
Adolescent↗
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.
Angelman Syndrome↗
Cell specific effects of glucocorticoid treatment on the NF-kappaBp65/IkappaBalpha system in patients with Crohn's disease.
UNLABELLED: BACKGROUND/AIMS/PATIENTS: Glucocorticoid treatment is known to reduce nuclear factor-kappa B (NF-kappaB)p65 binding activity and activation in lamina propria cells of patients with Crohn's disease. However, lamina propria cells of glucocorticoid treated patients did not show increased expression of IkappaBalpha, and the hypothesised upregulation of IkappaBalpha by glucocorticoid treatment has not yet been shown in vivo. To investigate whether cells other than lamina propria localised mononuclear cells contribute to increased IkappaBalpha, resection gut specimens from patients matched for Crohn's disease activity index (CDAI) with or without glucocorticoid treatment were studied, and changes in the NF-kappaB/IkappaBalpha system were determined in the lamina propria as well as in underlying submucosal and endothelial cells. METHODS: Changes in the NF-kappaB/IkappaBalpha system were determined by immunohistochemistry, electrophoretic mobility shift assay, and western blot analysis in resected gut specimens from patients matched for CDAI and van Hees index with or without long term glucocorticoid treatment. RESULTS: Resection gut specimens from patients with Crohn's disease under glucocorticoid treatment had significantly lower nuclear NF-kappaBp65 levels in mononuclear, epithelial, and endothelial cells than samples from CDAI and van Hees index matched patients not having glucocorticoid treatment. Nuclear NF-kappaBp65 showed a strong positive correlation with both the CDAI (r = 1 for both groups) and the van Hees index (r = 0.605 for untreated and r = 0.866 for glucocorticoid treated specimens). Lower nuclear translocation of NF-kappaBp65 in the glucocorticoid treated group was paralleled by higher IkappaBalpha levels in vascular endothelial cells, but not in infiltrating mononuclear cells. CONCLUSION: A comparison of resection gut specimens from untreated and treated CDAI matched patients with Crohn's disease showed downregulation of NF-kappaB binding activity and NF-kappaBp65 expression and cell specific induction of endothelial IkappaBkappa expression in the glucocorticoid treated group. As the two groups showed similar disease activity (CDAI, van Hees index), the activation of the NF-kappaBp65/IkappaBalpha system must be only part of the inflammatory cascade leading to the clinical appearance of Crohn's disease.
Adult↗
Structure of the promoter and complete sequence of the gene coding for the rabbit translationally controlled tumor protein (TCTP) P23.
We have isolated genomic recombinants containing the complete gene coding for the rabbit translationally controlled tumor protein (TCTP), also known as histamine-releasing factor (HRF) P23. The gene is organized into five introns and six exons and its total length amounts to 3819 nucleotides. All intron/exon boundaries are in accordance with the GT/AG rule. Transcription of the gene generates two mRNAs of 843 and 1163 nucleotides differing in the length of their 3'-untranslated regions. They are formed by alternative polyadenylation. The transcription initiation site has been determined by comparison of sequences of the gene and several processed TCTP pseudogenes. The full-length 5'-untranslated region comprises 116 nucleotides and starts with an oligopyrimidine tract important for translational regulation. Additionally 1.2 kb of the 5'-flanking promoter region has been sequenced. The promoter contains a TATA box at -30 and potential binding sites for transcription factors such as stimulating protein 1 (Sp1), nuclear factor 1 (NF1), activator protein 1 (AP1), c-Ets1, cAMP-response element (CP2), myeloid-specific zinc finger protein 1 (MZF1) and others. For functional analysis 5'-flanking sequences up to -918 were fused to the chloramphenicol acetyltransferase (CAT) gene and tested using a rabbit aortic smooth-muscle cell line by cell transfection and CAT assays. The results confirm that the analyzed gene is the actively transcribed TCTP gene.
Amino Acid Sequence↗
Simultaneous expression of leukocyte-type 12-lipoxygenase and reticulocyte-type 15-lipoxygenase in rabbits.
In rabbit reticulocytes an arachidonic acid 15-lipoxygenase (15-LOX) is expressed at high yield. Rescreening a rabbit reticulocyte cDNA library for alternative 15-LOX transcripts, a full length cDNA which encodes a novel lipoxygenase was isolated. The predicted amino acid sequence of this enzyme shared a high degree (99%) of identity with the reticulocyte-type 15-lipoxygenase. Among the six amino acid residues different in both enzymes a Phe-Leu exchange was detected at position 353. Recently, site-directed mutagenesis studies have revealed that this amino acid exchange converts a 15-lipoxygenase to a 12-lipoxygenase. In fact, when the novel enzyme was expressed in Escherichia coli, mainly 12-lipoxygenation of arachidonic acid was observed. The recombinant enzyme exhibited a rather broad substrate specificity. Various C-18 and C-20 polyenoic fatty acids and even complex substrates such as biomembranes were effectively oxygenated. Thus, the novel enzyme may be classified as leukocyte-type 12-lipoxygenase. Genomic polymerase chain reaction of the 3' region of the leukocyte-type 12-lipoxygenase gene indicated that introns 10 to 13 differed to about 10% from the corresponding sequences of the 15-lipoxygenase gene although their size and the intron-exon organization were very similar. In the 3'-untranslated region of the novel mRNA a C+U-rich, 20-fold repetitive element was found which appears to be highly related to the differentiation control element of the 15-lipoxygenase mRNA. Activity assays with a variety of cells and tissues prepared from normal rabbits suggested that only peripheral monocytes abundantly express the enzyme, suggesting a tissue-specific regulation of gene expression. These data indicate for the first time the co-expression of two separate genes for a reticulocyte-type 15-lipoxygenase and for a leukocyte-type 12-lipoxygenase in one species. This is of importance for the implication of both enzymes in red blood cell development and atherogenesis.
Amino Acid Sequence↗
[Family history of glaucoma and risk factors in pigmentary glaucoma. A new clinical study].
BACKGROUND: Whether a family history of glaucoma (FHG) in patients with pigmentary glaucoma (PG) is a prognostical indicator, is unknown. Therefore the aim of this study was to evaluate the influence of FHG on the severity of the disease in PG and pigment dispersion syndrome (PDS). Furthermore risk factors in PG and PDS were evaluated. METHODS: The findings of 207 patients with PG and PDS, who were able to give information about FHG, were evaluated (149 PG, 43 PDS with ocular hypertension (OH), 15 PDS without OH). RESULTS: Significance of FHG: FHG was found in 39.1%, and in one third of the patients more than one relative had the disease. FHG was found in PG not more frequent than in PDS. Pigmentary glaucomas in advanced stages of the disease did not have a higher incidence of FHG than patients in beginning stages. Out of 207 patients with PG and PDS 71% were male and 29% female (p < 0.001). In patients with FHG the share of men was 64.2% and not significantly different to the group without FHG with 75.4%. The sex distribution in parents and grandparents having a glaucomatous disease was 1:1. RISK FACTORS: The pf1p4nts with and without FHG in PDS with and without OH, PG, and within the different stages of visual field loss, showed no significant differences in risk factors, for example in maximum intraocular pressure, refraction and cup-disc ratio. Myopia: Patients with PG had a significantly higher myopia than patients with PDS (p < 0.01). The higher the myopia, the earlier the disease was diagnosed (p = 0.008). Krukenberg spindle: During miotic therapy the Krukenberg spindle decreased in the upper half of the cornea. Time of diagnosis: PG was diagnosed at a higher age compared to PDS. CONCLUSION: FHG does not influence the severity of the disease in PG. Family history of glaucoma is a risk factor in patients with PG, but no prognostical indicator. Patients with FHG do not have primarily larger cup-disc ratios than patients without FHG. Myopia is a risk factor.
Adolescent↗
Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?
Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in this syndrome may be evidence of a different condition.
Contracture↗
[Simulation of elasto-mechanical behavior of the human mandible using individual finite element modeling].
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Biomechanical Phenomena↗