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Biomedical subjects

D Böhm

Publications and source records attributed to D Böhm.

At least 19 recordsLinked to original sources

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.

We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS.

Abnormalities, Multiple↗

Failure of phospholipid hydroperoxide glutathione peroxidase expression in oligoasthenozoospermia and mutations in the PHGPx gene.

Phospholipid hydroperoxide glutathione peroxidase (PHGPx) is a selenoprotein belonging to the family of glutathione peroxidases. PHGPx has long been considered a major antioxidant that, in cooperation with vitamin E, protects biomembranes. To determine the expression pattern of PHGPx mRNA in human, quantitative RT-polymerase chain reaction (PCR) analyses using RNA from different embryonal and adult tissues were performed. A predominant expression was found in testes. In spermatozoa, PHGPx was found to be localized in the mid-piece of spermatozoa. We studied the relationship between spermatozoa PHGPx expression, mutations in PHGPx gene and human oligoasthenozoospermia, a defect in which both the number and the motility of spermatozoa are significantly below normal. Spermatozoa specimens from 45 infertile males were analysed for fertility-related parameters according to World Health Organisation and were classified as suffering from oligoasthenozoospermia. Two patients (4.44%) showed no expression of PHGPx and in nine patients (20.00%), a reduced expression of the enzyme was observed. DNA sequences of various regions of the PHGPx gene (coding, 5'flanking region and intron 1) from these patients and 58 fertile volunteers were analysed for mutations by PCR amplification and direct sequencing. Sequence data revealed no cause/effect relationship for any of the variants. From these data it can be concluded that oligoasthenozoospermia is associated with a decrease in the level of expression of PHGPx in the spermatozoa of some infertile men (24.44%), but is not linked to mutations in PHGPx gene.

Female↗

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child.

Abnormalities, Multiple↗

[Anatomy of the glenoid labrum].

Most instabilities or pain syndromes are associated with injuries or morphologic changes in the glenoid labrum complex or long head of the biceps tendon origin. The first anatomic descriptions go back to Fick in 1910 and since then many authors have described the anatomy of these structures. It was Snyder who introduced the term SLAP lesions, classifying superior, anterior, posterior labrum changes into four grades. It is still unclear whether all of the described and arthroscopically observed changes are due to a post-traumatic, acquired lesion or whether anatomic variations can be present as well. In order to elucidate this problem, 36 cadaver shoulder joints were inspected macroscopically and sectioned for microscopic evaluation. Here the glenoid could be divided into an superior and an anterior- superior area demonstrating a wide variety of morphologic labral glenoid changes, while the dorsal and inferior sectors of the glenoid showed a relatively uniform anatomy of a firm labrum-glenoid bond. Four types of biceps tendon attachments could be identified similar to the description given by Vangsness. In addition, a variety of anterior-superior changes could be found. The sublabral hole as described by Esch in the clinical setting was found to be a physiologic variant. Precise knowledge of the anatomic morphology of the normal glenoid in its variations seems to be necessary to understand variants and allow for distinguishing between physiologic anatomic variants and pathoanatomic changes in imaging and the clinical setting.

Aged↗

German short musculoskeletal function assessment questionnaire (SMFA-D): comparison with the SF-36 and WOMAC in a prospective evaluation in patients with primary osteoarthritis undergoing total knee arthroplasty.

In a prospective clinical trial, the German short musculoskeletal function assessment (SMFA-D), the short form (SF)-36, and the Western Ontario and McMaster Universities osteoarthritis index (WOMAC) were evaluated in 63 patients with primary osteoarthritis undergoing total knee arthroplasty. All instruments were sensitive to change, demonstrating the effect of total knee arthroplasty at 1-year follow-up. The SMFA-D effect sizes in comparable scales were bigger than in the SF-36 and similar to those of the WOMAC. Significant correlations of the SMFA-D indices with the SF-36 and WOMAC scales preoperatively could be shown. After 1-year follow-up, all correlations between the SMFA-D indices and SF-36 scales were significant. In other comparison, only the correlation between the SMFA-D function index and the WOMAC function scales remained significant. The correlation of the SMFA-D function index with external validation criteria was higher than that using the other instruments. We recommend the SMFA-D for assessing change in functional status of patients with primary osteoarthritis of the knee following arthroplasty.

Arthroplasty, Replacement, Knee↗

[Kapandji intramedullary wire osteosynthesis in proximal humeral fractures].

For operative treatment of proximal humeral fractures minimal invasive techniques reduce the risk of iatrogenic damage of blood supply and periarticular scarring. Reported preliminary results are encouraging. We present our experience achieved with an intramedullary wire fixation adapted from a report of Kapandji in 1989. Between 3/95 and 6/00 29 patients were treated with this technique at our institution. All received early functional treatment. 14 patients (average mean age 56 years at time of trauma) who had a minimum follow up of 24 months (mean 36.4 months) and therefore allowed a preliminary conclusion regarding avascular head necrosis (AVN) were reexamined by use of the Constant Score and x-ray. We examined three unstable 2-part, four 3-part and seven 4-part fractures (5 of them valgus-impacted). The mean Constant Score at follow up was 70 points (31-86 points). We saw one total collapse of the humeral head because of AVN. In one patient the distal end of the wires led to a skin irritation and had to be shortened. We observed no secondary fragment displacement or non-unions. In our hands, this technique offers good results, even in valgus-impacted 4-part fractures of the elderly and allows internal fixation in little displaced but unstable fractures with the benefit of early functional treatment instead of longer immobilization. Based on the experience with intramedullary wiring the previously performed technique using threading wires was abandoned and the indication for primary arthroplasty considerably influenced.

Adult↗

[2D-SPLASH spectroscopy to determine the fat/water ratio in the muscle of the rotator cuff].

AIM: The degree of fatty infiltration of the rotator cuff is an important factor for the prognosis of an operative reconstruction afterrotator cuff tear. The aim of this work was to develop a method using a clinical MR scanner that allows the quantification of the fat/water ratio with the necessary spatial resolution. METHOD: A SPLASH sequence consisting of 19 complex 2D-FLASH images was implemented on a clinical 1.5 T MR scanner. The echo time was gradually increased from 5.0 ms to 50.0 ms. A spatial in plane resolution of 1.17 mm, a spectral resolution of 0.33 ppm and a spectral width of 6.25 ppm were achieved in a total acquisition time of about 3 min. The quantitative evaluation of the spectra in arbitrarily shaped regions of interest (ROIs) was obtained using a home-built reconstruction program and the time domain fit program AMARES. RESULTS: Phantom studies show a linear relation of the concentration determined by SPLASH spectroscopy (r = 0.997). Because of the high spatial resolution and the possibility to evaluate arbitrarily shaped ROIs, the determination of the fat/water ratio in single muscles in the shoulder has been possible. CONCLUSIONS: By the use of the 2D-SPLASH sequence the degree of fatty infiltration in the rotator cuff can now be determined quantitatively for the first time.

Adipose Tissue↗

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.

In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers could be explained by unbalanced translocation-bearing spermatozoa found with a frequency of approximately 55% in the entire sperm population of a t(2;20)(p24.1;q13.1) carrier. These imbalanced spermatozoa mainly present as 2, der(20) and der(2), 20 missegregated (approximately 46%) while adjacent 2 and 3:1 segregation patterns account for approximately 5% and 4% of imbalances, respectively. While the translocation is associated clearly with an increased risk of early abortions (7/12) in both male and female carriers, no malformed livebirths were observed. Our results suggest complete embryonic lethality of imbalanced offspring. With respect to a high rate of segregation to 2, der(20) and to der(2), 20 imbalanced spermatozoa in male translocation carriers and with respect to known cases of partial trisomy 2p and 20q we consider that their corresponding monosomies result in fetal loss. This is the first study reporting multiple abortions associated with partial monosomy 20q13.1-->qter and 2pter-->p24.1 and the first report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote.

Abortion, Habitual↗

Rat transition nuclear protein 2 regulatory region directs haploid expression of reporter gene in male germ cells of transgenic mice.

During spermiogenesis, the successive replacement of somatic histones by basic proteins, the transition nuclear proteins and protamines, allows normal sperm condensation. Transition nuclear protein 2 (TNP2) is transcribed postmeiotically in round spermatids. In order to determine regulatory flanking sequences responsible for stage specific expression of TNP2 gene, different transgenic mice were generated by microinjection of fertilized eggs. We demonstrate here that 525 bp of 5'- and 920 bp of 3'-flanking sequences of rat TNP2 gene could properly and efficiently direct chloramphenicol acetyltransferase gene expression to the postmeiotic male germ cells of transgenic mice. During male germ cell differentiation the first transgene transcripts were observed in round spermatids and translation started 6 days later in elongating spermatids, which is an evidence for posttranscriptional regulation of transgene expression. In contrast, transgenic mice bearing only the 525 bp 5'-flanking sequences of rat transition protein 2 gene and 3'-flanking sequences of the simian virus 40 large T antigen showed low levels of transgene expression in testis. From these results, it can be concluded that the 525 bp 5'-flanking sequences regulate the cell specific expression and the sequences located in 920 bp 3'-flanking region either enhance the transgene expression in the male germ cells or may have a posttranscriptional role in stabilizing the mRNA in addition to its function in delaying the mRNA translation. Using comparative alignment of 5'-flanking of TNP2 genes from different species, the putative regulatory sequences are identified.

3' Untranslated Regions↗

Isolation and characterization of differentially expressed genes in invasive and non-invasive immortalized murine male germ cells in vitro.

In an attempt to elucidate the potential of premeiotic male germ cells to malignant transformation both the invasiveness and the differential gene expression of several putative tumor markers of the spermatogonia-derived cell line GC-1spg and the spermatocyte-derived cell line GC-4spc were analyzed. Studies, using RT-PCR analysis, of the expression pattern of the alkaline phosphatase isoenzymes which serve as markers for testicular germ cell tumors demonstrated that the expression of the endogenous mouse embryonic alkaline phosphatase (EAP) is upregulated in the GC-1spg cell line. Additionally, after transfection of GC-1spg cells and GC-4spc cells with a GCAP-CAT construct, an increased promoter activity of the human germ cell alkaline phosphatase (GCAP), the equivalent human isoenzyme of EAP, was shown in GC-1spg. Furthermore, an in vitro Matrigel invasion assay revealed a significant higher invasive potential of GC-1spg cells as compared to GC-4spc cells. Finally, a suppression subtractive hybridization on RNA of invasive GC-1spg cells and non-invasive GC-4spc cells was performed. In total, 31 cDNA sequences were isolated and further analyzed. Among these, 18 known sequences and 13 unknown sequences were determined. Northern blot analysis revealed that one unknown gene and eight known genes, namely integrin alpha 6, L6 antigen, annexin VIII, BVL-1 retrotransposon, protective protein, replacement variant histone 3.3, alpha-catenin and LPS-binding protein, are over-expressed in invasive GC-1spg cells. Taken together, both the enhanced invasive activity of GC-1spg cells and the upregulated expression of genes involved in the process of tumor progression suggest that the immortalized spermatogonia-derived cell line GC-1spg does have a higher potential to malignant transformation than the immortalized spermatocyte-derived cell line GC-4spc.

Animals↗

[Arthrography, ultrasound and MRI in rotator cuff lesions: a comparison of methods in partial lesions and small complete ruptures].

PURPOSE: To evaluate the accuracy of arthrography, ultrasound and MR imaging in rotator cuff disease. METHODS: 40 patients suffering from subacromial impingement syndrome for at least three months and who were selected for surgery, underwent ultrasound, double-contrast arthrography and MR imaging. Patient preselection focused on partial and small complete tears. RESULTS: 13/26 surgically confirmed tears were partial tears (articular surface: 10, bursal surface: 2, intra-substance tearing: 1). Arthrography, ultrasound and MR imaging yield a sensitivity for complete tears of 91%, 69% and 92% with a specificity of 100%, 93% and 93%. For partial tears sensitivity was 50%, 69% and 69% with a specificity of 100%, 79% and 86%. Concerning evaluation of localisation, extent and correct classification ultrasound was correct in 17/26 cases, MR in 21/26 cases. CONCLUSION: Arthrography is not helpful in detecting partial tears. Ultrasound and MR imaging yield comparable accuracy. MR imaging has advantages concerning better evaluation of extent, location and classification as well as for the detection of associated pathologies.

Arthrography↗

Simulation of vessel morphogenesis using cellular automata.

We present a cellular automaton model, including lateral inhibition of an autocatalytic morphogen, as well as a genetic switch that differentiates tissue into substrate-depleting vessels. This model yields isotropic morphogenesis, including: dichotomous and lateral branching, blind vessel ends, and closed loops due to anastosmosis. The algorithm consists of a list of simple rules describing the essential biophysical features, permitting comfortable programming and fast computations. Depending on the choice of the substrate s, the model is applicable to leaf veins (s is auxin), insect trachea (s is CO2) or neovascularization (s is an angiogenesis factor). Sequential addition of rules can be correlated to evolutionary steps in leaf morphogenesis.

Algorithms↗

Detection of coronary artery bypass graft patency by contrast enhanced magnetic resonance angiography.

OBJECTIVE: The subject and purpose of the prospective study was to delineate coronary artery bypass graft (CABG) course and to determine patency of aortocoronary venous bypass grafts (ACVB) compared with internal mammary artery bypass grafts (IMA) in the early postoperative follow-up, by contrast enhanced magnetic resonance angiography (MRA). For control, patients were examined with X-ray angiography and spiral-computed tomography (CT). METHODS: Eighty-five patients (74 male/11 female) with a mean age of 63.7 years underwent MRA examination, applying contrast enhanced gradient-echo sequence after an average distance of 7 days from CABG surgery. A 1.5 Tesla magnetom vision (Siemens, Erlangen, Germany) with phased array coil technology was used. Overall, 247 bypass grafts (160 ACVB/87 IMA) were studied with a 3D (three dimensional) ultrashort TE gradient-echo sequence (TR/TE/a:5 ms/2 ms/40 degrees) with 512*512 matrix and 500 mm FoV in single breath-hold technique after Gd-DTPA bolus injection. CABGs were judged in three different parts, including the course of CABG and both anastomoses. CABGs were controlled by angiography and spiral-CT to examine sensitivity, specificity and efficiency of MRA examination. Additional measurement of bypass graft flow velocity of arterial and venous grafts was performed with 2D phase contrast technique in breath-hold technique with ECG triggering. RESULTS: One hundred and thirty-nine of 160 (86.9%) ACVB grafts and 83 of 87 (95.4%) IMA grafts could be visualized. Suspected occlusions of 10 CABGs were confirmed in 80% with a second modality. Five CABGs were false positive in MRA. MRA proved a high specificity (93.8%), sensitivity (89.9%) and efficiency (1.73), especially in detection of IMA to LAD and ACVB to LAD and RCA (Table 1). 3D maximum intensity projection (MIP) reconstruction was helpful in delineating CABG course and in several cases in detecting stenosis of coronary arteries. Results of flow velocity showed a significant higher mean systolic velocity in arterial bypasses than in venous grafts with a higher maximum velocity in systole than in diastole in both grafts. Bypass stenosis in distal anastomosis could not be verified with MRA and flow method. CONCLUSION: Contrast enhanced 3D ultrashort TE gradient-echo magnetic resonance angiography has the potential for being a reliable method for CABG visualization and CABG patency determination in the early postoperative period. MR flow measurement was not qualified for detection of a bypass stenosis.

Aged↗

[Heart transplantation--state of the art today].

In spite of pharmacological progress, end stage congestive heart failure is still associated with a decrease in quality and expectation of life. Heart transplantation remains the last therapeutic option for these patients. While the one year survival rate has increased over the last few years up to 84%, a major problem remains the significant lack of donors. Therefore, the criteria for the selection of candidates for cardiac transplantation have to be kept quite tight: Evidence of poor outcome without transplantation is associated with ejection fractions below 20 to 25%, cardiac indices less than 2.01/min/m2, left ventricular filling pressure above 20 mm Hg and a enddiastolic diameter of > 80 mm. There are, however, also quite important functional parameters indicating the need for heart transplantation, e.g. the maximal oxygene uptake being less than 10 ml/kg/min or below 50% of the age-appropriate value. Elevated pulmonary vascular resistance above 4 to 5 Wood units without a significant decrease during application of prostaglandin derivatives or inhalation of NO represents a contraindication for orthotopic heart transplantation; alternatively, a heterotopic transplantation can be considered. Since there is a significant shortage of suitable donor organs, the donor criteria have been broadened, e. g. the accepted donor age was increased to 60 years. Based on these extended criteria, a careful donor evaluation including cardiac history, cardiac examination, ECG and echocardiogram has to be performed. Coronary angiography in older donors is suggested, but in many cases not possible due to circumstances. Further precondition for a good graft function is a sophisticated donor management until the time of explantation. Hypovolemia and hypocalemia, hypothermia, hypoxia and rapid lost of circulating triiodothyronine (T3) have to be detected and balanced. The cardioplegic solution used might not only have an impact on the immediate postoperative performance of the graft, but also on the long term outcome, particularly with regard to graft vessel disease. There are generally two types of solutions: Those with intracellular and those with extracellular electrolyte concentrations. In addition, the potassium concentration might be of some importance. Potassium seems to damage endothelial cells and trigger subsequent immunological reactions. Therefore, high potassium concentrations in the cardioplegic solution might correlate with the incidence of graft vessel disease during the long term follow-up. The surgical technique for orthotopic heart transplantation developed at the beginning of the sixties by Lower and Shumway has been used unchanged for the last 30 years. The only alteration recently introduced is the separate direct anastomosis of the pulmonary and systemic veins in order to improve the atrial function. Until recently the commonly employed immunosuppressive strategy after heart transplantation consisted of the standard drugs cyclosporin, azathioprin and prednisolon. Some transplant-units use additionally induction therapy with antibody preparations. Many centers, however, abolished this regimen due to significant short and long term side effects. Promising new, more specific antibodies (which are chimerized or humanised) could revive the induction concept. The most thoroughly tested novel immunosuppressive agent is tacrolimus (FK506). It has been demonstrated to be 10 to 100 times more potent than cyclosporin A in in vitro and in vivo models. It binds to a different binding protein (FK-binding-protein) than cyclosporin (cyclophilin), but has a similar mechanism of action inhibiting the expression of T-cell-activator genes for certain cytokines. First non-randomised studies after heart transplantation performed at the University of Pittsburgh revealed that significantly more tacrolimus than cyclosporin patients were free of rejection. In order to confirm these observations, we performed a prospective randomised controlled clin

Clinical Trials as Topic↗

[Diagnostic and therapeutic video thoracoscopy: conversion rate and costs].

With the further development of new surgical techniques, that allow for the performance of a variety of standard diagnostic and therapeutic procedures in a less invasive fashion, it is instructive to look at the complications of these new techniques, in order to define their role for general thoracic surgery. 372 patients have been treated by means of video-assisted thoracic surgery (VATS) between 1/1992 and 12/1994. A total of 934 open thoracic procedures were performed in the same time frame, 399 out of them for the same chest disorders as treated by VATS alternatively. In 40 cases (10.7%) the endoscopic procedure had to be converted to an open thoracotomy. The main reasons for conversion were inability to locate or resect lesions due to a deep or central position (n = 13), requirement of further resection (n = 10), adhesions (n = 9), fibrinopurulent empyema (n = 5), bleeding (n = 2) and single-lung-ventilation failure (n = 1). The mean operation time was significantly shorter with VATS compared to open procedures, except for decortications. The mean hospital stay was 4.2 days in the endoscopic and 7.9 days in the thoracotomy group. Cost analysis for both techniques included expenses for disposable instruments, the operation room, anesthesia, and total hospital charges. Higher costs for instruments for VATS procedures were compensated by shorter chest drainage, less postoperative need for analgetics and a significantly shorter hospital stay.(ABSTRACT TRUNCATED AT 250 WORDS)

Cost-Benefit Analysis↗

Studies of the nucleoside transporter inhibitor, draflazine, in the human myocardium.

1. The aim of the present study was to determine the effect of the nucleoside transporter inhibitor, draflazine, on the force of contraction in human myocardium and the affinity of the compound for the nucleoside transporter. Nucleoside transport inhibitors, like draflazine, are of potential importance for cardiopreservation of donor hearts for heart transplantation. 2. Functional experiments were performed in isolated electrically driven (1 Hz, 1.8 mmol l-1 Ca2+) human atrial trabeculae and ventricular papillary muscle strips. The affinity of draflazine for the myocardial nucleoside transporter was studied in isolated membranes from human ventricular myocardium and human erythrocytes in radioligand binding experiments using [3H]-nitrobenzylthioinosine ([3H]-NBTI). Dipyridamole was studied for comparison. 3. In membranes from human myocardium and erythrocytes, [3H]-NTBI labelled 1.18 pmol mg-1 protein and 23.0 pmol mg-1 protein, respectively, nucleoside transporter molecules with a KD value of 0.8 nmol l-1. Draflazine concentration-dependently inhibited binding of [3H]-NBTI to myocardial and erythrocyte membranes with a K(i)-value of 4.5 nmol l-1. The potency as judged from the K(i) values was ten times greater than that of dipyridamole in both myocardial and erythrocyte membranes. 4. Draflazine, at concentrations up to 100 mumol l-1, did not produce negative inotropic effects in atrial and ventricular myocardium. (-)-N6-phenylisopropyladenosine (R-PIA) and carbachol did not reduce force of contraction in ventricular myocardium, but exerted concentration-dependent direct negative inotropic effects in atrial myocardium. 5. The data provide evidence that draflazine specifically binds to the nucleoside transporter of the human heart and erythrocytes with high affinity. The compound does not produce negative inotropic effects at concentrations as high as 100 micromol 1-1.6. Draflazine could be a useful agent for cardio preservation because it does not produce cardio depressant effects. Thus, it may be possible to perfuse explanted hearts directly with this agent without the hazard of cardiodepression.

Adult↗