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排序方式: 共有452条查询结果,搜索用时 15 毫秒
91.
In dem vorliegenden Artikel wird über eine weitere Familie mit 5 Patienten berichtet, die unter einem Fechtner-Syndrom leiden. Dieses heredit?re Syndrom stellt eine seltene Differentialdiagnose des Alport-Syndroms dar und ist durch einen progredienten H?rverlust (49%), eine Makrothrombozytopenie mit typischen Leukozyteneinschlussk?rpern (100%), eine Nierenbeteiligung (38,7%) und Augensymptome (54,3%) gekennzeichnet. 相似文献
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BACKGROUND: An elongation of the styloid process or an ossification of the stylohyoid ligament can be the cause for a styloid syndrome and may lead to craniocervical pain, globus sensation and dysphagia. Pathophysiologically, the styloid syndrome is related to an irritation of the surrounding nerves, the carotid artery or the pharyngeal mucosa. There are various alternatives for its treatment. PATIENTS AND METHODS: This study analyzed retrospectively the data of eleven patients, who were treated for a styloid syndrome. All patients were placed on a stepwise therapy plan, which began with a medicamentous treatment, followed by a surgical treatment, if the problems persisted. The surgical approach included a transoral styloid fracture and/ or a surgical styloid shortening, which was carried out either transorally or transcervically. RESULTS: Three of the eleven patients presented no complaints after the medical treatment and did not require any further therapy. In two out of five patients, transoral fracturing of the styloid was successful. Six patients underwent surgical resection of the styloid process. In five cases a transoral route was used and in one cases a transcervical route. Postoperatively, four patients were free of symptoms and did not present any functional deficit. Two patients experienced severe complications with an ipsilateral medial cerebral artery infarction. These were related to a dissection of the internal carotid artery (ICA) in one case, and an arrosion bleeding of the ICA after the formation of an abscess of the parapharyngeal space in the other case. CONCLUSION: A stepwise therapy of the styloid syndrome including medicamentous treatment, transoral styloid fracture and resection of the styloid process has proven to be of value. If the styloid process can be palpated submucosally, a transoral resection may be chosen. However, using this route, the possibility of severe complications has to be taken into consideration, such as injury of the internal carotid artery. 相似文献
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MRI gains greater importance in the differential diagnosis of retrocochlear hearing loss. Retrocochlear anakusis is rarely caused by aplasia or atrophia of the cochlear nerve. In the following we report about a five year old boy suffering from unilateral deafness, where a strongly T2-weighted CISS-3D MRI sequence demonstrates a missing of the cochlear nerve on the deaf side. 相似文献
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Inken Tödt PhD Bassam Al-Fatly MD Oliver Granert Andrea A. Kühn MD PhD Paul Krack MD PhD Joern Rau Lars Timmermann MD PhD Alfons Schnitzler MD PhD Steffen Paschen MD Ann-Kristin Helmers MD Andreas Hartmann MD PhD Eric Bardinet MD PhD Michael Schuepbach MD Michael T. Barbe MD PhD Till A. Dembek MD Valerie Fraix MD PhD Dorothee Kübler MD Christine Brefel-Courbon MD PhD Alireza Gharabaghi MD PhD Lars Wojtecki MD PhD Marcus O. Pinsker MD PhD Stephane Thobois MD PhD Philippe Damier MD PhD Tatiana Witjas MD PhD Jean-Luc Houeto MD PhD Carmen Schade-Brittinger Marie Vidailhet MD PhD Andreas Horn MD PhD Günther Deuschl MD PhD 《Movement disorders》2022,37(2):291-301
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Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function 总被引:8,自引:0,他引:8
Sporadic mutations in the thrombomodulin (TM) gene occur in patients with both arterial and venous thrombosis, but the effects of these mutations on expression and function are largely unexplored. Full-length wild-type TM complementary DNA (cDNA) was incorporated into vector pcDNA6 for transfection into COS-7 cells for transient expression. Mutagenesis was performed to create 7 TM mutants with natural mutations either previously identified (Ala25Thr, Gly61Ala, Asp468Tyr, Pro477Ser, Pro483Leu) or reported here (an 11-base pair [bp] deletion, del791-801, leading to STOP306, and a missense mutation, Arg385Ser). Four mutations were found to detrimentally affect the level of expression of the TM protein. Of the missense mutations, 3 had reduced expression compared to wild-type TM (100%), Arg385Ser (50.2% +/- 5%, P <.001), Pro477Ser (76.8% +/- 1%, P <.001), Pro483Leu (82.1% +/- 8%, P <.007). No TM protein expression could be detected on the cell surface for mutation del791-801. The cofactor activity of TM in protein C activation was also evaluated. The Michaelis constant (K(m)) for wild-type thrombin-TM complex was 634 +/- 6 nmol/L. Two mutants, with Arg385Ser and Pro477Ser, had increased (P <.0001) K(m), 2967 +/- 283 nM, and 2342 +/- 219 nM, respectively, demonstrating impaired function of the thrombin-TM complex. This work presents biochemical evidence that certain (but not all) natural mutations in the TM gene reduce expression and impair function of the protein on the cell surface, and helps clarify the suggested contribution that these mutations might make to the risk of thromboembolic disease. 相似文献
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Fc receptors are important effector molecules of neutrophilic granulocytes (polymorphonuclear neutrophils [PMN]), connecting phagocytic cells and the specific immune response. Neutrophils from healthy donors express the low-affinity receptors for IgG Fc gamma RII (CD32) and Fc gamma RIII (CD16), but not the high-affinity receptor Fc gamma RI (CD64). The latter has been found on neutrophils from patients with certain bacterial infections and can be induced in vitro after incubation with interferon-gamma. We show here that neutrophils strongly express Fc gamma RI after in vivo application of recombinant human granulocyte colony-stimulating factor (rhG-CSF). PMN from patients receiving rhG-CSF displayed higher cytotoxicity against Daudi lymphoma cells in vitro compared with control patients and with healthy donors. Fab fragments against Fc gamma RII (monoclonal antibody [MoAb] IV.3) inhibited neutrophil-mediated cytotoxicity of healthy donors but not of patients during rhG-CSF therapy. Therefore, expression of Fc receptors by PMN was investigated by flow cytometry and the mean fluorescence intensity (MFI) was compared. After staining with MoAb 32.2 against Fc gamma RL, the median MFI of neutrophils from G-CSF patients (median, 4.78; range, 2.40 to 8.50; n = 5) was significantly higher (P = .002 and P = .001, respectively) than the median MFI of patients not receiving G-CSF (median, 1.23; range, 1.01 to 1.58; n = 6) and the median MFI of healthy donors (median, 1.04; range, 0.67 to 1.12; n = 6). Fc gamma RI disappeared after the discontinuing of the G-CSF injections, but was reinduced during the next treatment cycle with rhG-CSF. The high expression of Fc gamma RI during rhG-CSF therapy correlated with enhanced cytotoxicity. In vitro incubation with rhG-CSF also enhances cytotoxicity, but only minor increments in Fc gamma RI expression were observed. Thus, during in vivo application of rhG-CSF neutrophils acquire an additional potent receptor for mediating tumor cell killing in vitro by induction of the high-affinity receptor for IgG (Fc gamma RI, CD64). 相似文献
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