Biomedical subjects
M Zuber
Publications and source records attributed to M Zuber.
Radiologic anatomy of segmental agenesis of the internal carotid artery.
We report six cases of segmental agenesis of the internal carotid a. discovered in adult patients: one case of cervical segmental agenesis (no. 1), one case of cervical and petrosal segmental agenesis (no. 2), two cases of vertical cavernous segmental agenesis (nos. 3 and 4) and two cases of distal segmental agenesis, one unilateral (no. 5) and the other bilateral (no. 6). The collateral pathways observed were: the ascending pharyngeal a. which constitutes an "intratympanic course" of the internal carotid a. (no. 1), an intercarotid anastomosis (no. 2), an arterial network at the base of the skull, the so-called "rete mirabile" (nos. 3 and 4) and the posterior communicating a. (nos. 5 and 6). Recognition of these rare dysgenesis relies upon the following radio-anatomic characteristics: reduced caliber of the a., inconsistent sparing of the carotid body, reduced diameter or even absence of the carotid canal and above all, the presence of collateral pathways. The collateral pathways allow an understanding of the segmental nature of carotid a. development and a distinction between congenital and acquired stenoses.
A fatal case of severe SLE complicated by invasive aspergillosis.
We report on the case of a 25-year-old female with severe systemic lupus erythematosus (SLE) who presented with pancytopenia, fever, arthralgia and abdominal pain. After antibiotic treatment, the patient was afebrile for 3 days before her temperature rose again. Dyspnoea and cough pointed towards pneumonia which was confirmed by X-ray. Different antibiotics and the antimycotic agent fluconazol were given. The lupus flare was treated with high-dose prednisolone. After a couple of days, the dyspnoea increased and mechanical ventilation became necessary. Bronchoscopy and transbronchial biopsy revealed the diagnosis of invasive aspergilloses. Despite of an immediate treatment with amphotericin B, the patient died because of respiratory insufficiency. The literature on aspergillosis in SLE is reviewed and prophylactic, diagnostic and therapeutic options are discussed for this infectious complication which has an 80% mortality in patients with SLE.
Adie syndrome as the initial sign of primary Sjögren syndrome.
PURPOSE: To report Adie syndrome as the initial sign of primary Sjögren syndrome. METHODS: Case report. RESULTS: Adie syndrome was associated with necrotizing gingivitis and xerostomia. Antibodies against Ro (SS-A) were present. Prednisone and antimalarial drugs were ineffective in treating Adie syndrome but improved the necrotizing gingivitis. CONCLUSION: Search for Sjögren syndrome is mandated in patients with Adie syndrome. The latter condition is likely related to ganglionitis, a mechanism responsible for peripheral nervous system involvement in primary Sjögren syndrome.
Heterogeneity of melanoma antigen-1 (MAGE-1) gene and protein expression in malignant melanoma.
OBJECTIVE: The authors' objective is to identify MAGE-1 tumor antigen in clinical melanoma specimens and to verify the extent of its expression in tumors where evidence of specific gene transcripts can be obtained. BACKGROUND DATA: The MAGE-1 gene encodes a tumor-associated antigen that can be recognized by specific cytotoxic T lymphocytes. Transcription of the MAGE-1 gene has previously been demonstrated in various malignancies, but the production of the specific gene product and its distribution in neoplastic tissues have not yet been addressed. METHODS: Total cellular mRNA was extracted from six melanoma biopsies, reverse-transcribed and tested in 25-45 cycles of reverse polymerase chain reaction (rtPCR) in the presence of primers' pairs specific for the beta-actin-positive control gene and for the MAGE-1-encoding gene. Concurrently, portions of these specimens were lysed and probed for MAGE-1 protein by immunoblotting. Additional material from the same biopsies was analyzed following immunohistological staining with MAGE-1-specific monoclonal antibodies. RESULTS: MAGE-1 gene transcription could be demonstrated following 25 cycles of rtPCR in one out of six biopsies and in three more following 35 cycles of rtPCR. 2/6 samples were negative even after 45 cycles of rtPCR. MAGE-1 protein production could be detected by immunoblotting in the lysates from biopsies showing evidence of specific gene transcription. Cells positive for MAGE-1 protein expression could be identified by immunohistochemistry on snap-frozen sections in three of the four tumors displaying specific transcripts. Distribution of positivity ranged between focal cellular areas and single positive cells in the different tumors. CONCLUSIONS: The MAGE-1 tumor antigen can be detected by specific monoclonal antibodies in clinical tumor specimens. The pattern of positivity observed in samples showing evidence of MAGE-1 gene expression suggests a relevant heterogeneity regarding MAGE-1 antigen production within individual tumor specimens.
Right ventricular myxoma mimicking recurrent pulmonary embolism after primary ligament reconstruction.
Recurrent pulmonary emboli may be due to numerous causes and deep vein thrombosis are not an unusual source of pulmonary emboli following surgery. In this case report, the diagnostic approach and implications of a right ventricular myxoma as a rare source in a young patient is described. A 27-year old healthy woman presented scintigraphically proven recurrent pulmonary emboli after primary ligament reconstruction. Following a long period of diagnostic work-up for thromboembolism after surgery, a transthoracic and transoesophageal echocardiography was performed to document a right ventricular myxoma. Both transthoracic and transoesophageal echocardiography are powerful diagnostic means in a cardiac work-up and were used in this patient for the documentation of a right ventricular myxoma mimicking deep vein thromboembolism after surgery. As consequence of this case report we recommend to investigate patients with recurrent pulmonary embolism and no detectable venous thrombosis by echocardiography and a need for cardiac catheterization is restricted to patients with possible coexisting coronary artery disease. Furthermore, this case report demonstrates a myxoma in the right ventricle occurring only in 3-4% of all myxomas.
[Minimal invasive surgery in breast carcinoma].
The presence or absence of involved axillary lymph nodes is the single best predictor of survival of breast cancer, and important treatment decisions are based on it. For staging purpose as well as for local control a level I and II dissection is recommended. In order to lower the morbidity of axillary lymph node dissection less invasive treatment modalities have been evaluated. Beside the sentinel lymph node biopsy another new method is discussed: the endoscopic axillary lymph node dissection. After liposuction of the axillary fat the lymph nodes of level I and II are removed by endoscopy. With this technique enough lymph node can be removed which allows a sufficient staging as well as local control. This technique is not to be recommended for general use unless long term results have proven its value.
Peripheral neuropathy during interferon-alpha therapy in patients with cryoglobulinemia and hepatitis virus infection.
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[Transthoracic echocardiography--indications for modern color Doppler echocardiography].
Transthoracic echocardiography as a pillar of modern cardiology has become the most important cardiac examination following the assessment of patients history and clinical status. By this it is possible to judge clinical problems of the heart and all forms of heart disease appropriately, reproducibly and noninvasive. With use of two-dimensional echocardiography morphological and functional data of the anatomy of the heart and the great vessels can be obtained, but even a quantitative approach with measurement of left ventricular function is possible. Together with conventional doppler and colour doppler sonography this method is able to replace many diagnostic catheter evaluations, since ventricular function, stenotic lesions, insufficiences, shunt lesions and pulmonary artery pressures can be quantitated. Data from echodopplersonography are of great importance to establish the prognosis and risk of mortality of individual patients. Thus, echocardiography is increasingly used as diagnostic tool. In consequence, there is need for definitions of appropriate yield to warrant echocardiography on the basis of clinical and cost-effectiveness criteria and a quality control of continuing education to guarantee the outstanding value of this method. This article summarizes the recommendations for the use of doppler echocardiography in cardiovascular diseases according to the actual executive summary of the classification system used of the American College of Cardiology and the American Heart Association.
[Instrumental diagnosis for therapy decision making--what is possible and desirable, what is essential and what is superfluous--in breast surgery].
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Cytotoxic T-lymphocyte responses against mutated p21 ras peptides: an analysis of specific T-cell-receptor gene usage.
Generation of cytotoxic-T-lymphocyte (CTL) responses against mutated ras peptides from peripheral-blood mononuclear cells (PBMC) was attempted in a group of HLA-A2.1+ healthy donors. Bulk PBMC cultures were stimulated in vitro with a mixture of peptides encompassing 12 Gly --> Val, 61 Gln --> Lys or 61 Gln --> Leu ras mutations and displaying HLA-A2.1 binding motifs, selected by a computer program. A promiscuous tetanus toxoid peptide was also added. Weekly thereafter, PBMC were re-stimulated with peptide pulsed autologous Epstein-Barr virus (EBV)-transformed B cells. After 8 rounds of re-stimulation, reproducible cytotoxic activity against peptide-pulsed target cells was detectable in one donor. The CTL line recognized 2 nonamers encompassing ras 61 Gln --> Leu mutation. Killing was mediated by CD8+ T cells displaying alphabeta TCR and was inhibited by anti-HLA-A2.1 monoclonal antibodies. No killing of tumor cells expressing the specific mutation could be observed. More than 60 CTL clones were generated. Fine specificity studies revealed effective, though differing cytotoxic activity against both 53-LDILDTAGL-61 and 55-ILDTAGLEE-63, but not against 54-DILDTAGLE-62 mutated peptides, in all but one of the clones. None was able to exert effective cytotoxic activity against tumor cells expressing the specific mutation. T-cell-receptor (TCR) usage was then analyzed phenotypically, by reverse-transcription-polymerase-chain-reaction (RT-PCR) and by sequence analysis. This study revealed the monoclonal nature of the CTL response against mutated nonamers, with TCR expressing Vbeta14 gene product in combination with, Jbeta2.7 and Cbeta2.
[Aortic valve abscess with perforation in the right atrium].
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[Preoperative evaluation of the patient with coronary disease].
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[Diagnostic and classification criteria in rheumatology: collagenoses].
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[Cerebral ischemic events: when and how to look for a cardiac embolism source?].
In industrialized countries, cerebral ischemic events rank third among the most frequent causes of death. In survivors, long-term disability may result. The diagnosis and therapy of preventable causes is therefore a major task. Echocardiography has proven to be most helpful in the search for cardioembolic sources, and the transesophageal approach (TEE) is superior to the transthoracic (TTE) in this specific indication. In patients in whom a cardioembolic source can be identified by clinical examination, 12-lead surface ECG or chest X-ray, an additional echocardiographic examination is not necessary. Patients under 50 with cerebral ischemic events should undergo TEE. In patients over 70 with a contraindication for long-term anticoagulant therapy, TEE has no therapeutic consequences and should therefore not be performed. In patients aged between 50 and 70 the diagnostic procedure of choice must be considered in each individual patient. It should be kept in mind that a more aggressive approach using TEE, from which therapeutic conclusions are drawn, has not clearly been shown to improve the prognosis of patients with cerebral ischemic events.
A novel cell cycle-dependent antinuclear antibody in a patient with a monoclonal gammopathy of unknown significance.
A patient with a monoclonal gammopathy, an erosive polyarthritis and a spastic paraparesis of both legs revealed a high titer of antinuclear antibodies with an immunofluorescence pattern hitherto unknown. A pleomorphic staining pattern of unsynchronized cells suggested a cell cycle-dependent autoantigen. Cell cycle-dependency of the antigen was confirmed by staining tissue sections, serum-starvation of tissue culture cells and mitogen-stimulation of peripheral blood lymphocytes. The antinuclear antibody does not belong to the paraprotein fraction of the serum immunoglobulins.
Overproduction of proinflammatory cytokines imbalanced by their antagonists in POEMS syndrome.
The polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes (POEMS) syndrome is a rare multisystem disorder of obscure pathogenesis associated with osteosclerotic myeloma. Circulating levels of proinflammatory cytokines (tumor necrosis factor-alpha (TNF-alpha) interleukin-1 beta [IL-1 beta], IL-2, IL-6, and interferon-gamma [IFN-gamma]), anti-inflammatory cytokines (transforming growth factor beta 1 [TGF beta 1], IL-4, IL-10, and IL-13), the cytokine carrier protein alpha 2 macroglobulin, IL-1 receptor antagonist (IL-1ra), soluble TNF receptors (sTNFr) p55 and p75, and soluble IL-6 receptor (sIL-6r) were determined in 15 patients with POEMS syndrome and 15 with multiple myeloma. Patients with POEMS syndrome had higher serum levels of IL-1 beta, TNF-alpha, and IL-6 and lower serum levels of TGF beta 1 than did patients with multiple myeloma. Serum levels of IL-2, IL-4, IL-10, IL-13, IFN-gamma, alpha 2 macroglobulin, and sIL-6r were similar in both groups. IL-1ra and sTNFrs were increased in POEMS syndrome, but out of proportion to the increase of IL-1 beta and TNF-alpha. Serial evaluations in 1 patient showed that proinflammatory cytokine serum levels paralleled disease activity assessed by platelet count and neurologic involvement. Our results suggest that the manifestations of POEMS syndrome might be regarded as the result of a marked activation of the proinflammatory cytokine network (IL-1 beta, IL-6, and TNF-alpha) associated with a weak or even decreased (TGF beta 1) antagonistic reaction insufficient to counteract the noxious effects of cytokines.
[Sudden cardiac death: definition, mechanisms and risk factors].
Sudden cardiac death is defined as natural death due to cardiac causes, heralded by abrupt loss of consciousness within one hour after the onset of symptoms. The mechanisms are the following: 1. ventricular fibrillation, 2. ventricular tachycardia and flutter with subsequent ventricular fibrillation, 3. torsade de pointe, 4. bradyarrhythmias and asystolic arrest. White the main risk factor is the presence of coronary artery disease, any organic or functional disease of the heart can predispose for sudden cardiac death. To evaluate the risk of sudden cardiac death noninvasive (Holter, echocardiography, exercise test and signal averaged (ECG) and often invasive (electrophysiological study) tests are necessary. The therapy is based on drugs (mainly beta blockers and amiodarone), coronary revascularization, catheter ablation techniques and the implantation of a cardioverter defibrillator; the latter appears to be the most promising approach.