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91.
Osteogenesis imperfecta (OI) is the most frequently occurring congenital disorder with an increased fracture rate and systemic skeletal involvement. The vast majority of patients have an autosomal dominant form of OI resulting from a mutation in one of the two type I collagen genes COL1A1 or COL1A2. Since 2006, eight genes for autosomal recessive forms of the disorder have been identified, as well as one additional gene for autosomal dominant OI. Our knowledge concerning molecular pathophysiology has been substantially broadened, such that the paradigm of OI as a pure ??collagenopathy?? no longer applies and the clinical classification system will have to be revised. Standard therapy for the more severe forms of OI comprises intravenous administration of bisphosphonates. Additional elements of a multimodal therapeutic concept include surgical intervention for bone deformities or fractures and physiotherapy. 相似文献
92.
PD Dr. Hartmut Greven Jochen Schindelmeiser Heidrun Straub 《Cell and tissue research》1983,232(2):421-431
The innervation of the uterus in the ovoviviparous urodele Salamandra salamandra was studied. In whole mount preparations of the thin-walled uterus of pregnant females, a dense adrenergic network was demonstrated using a modified glyoxylic acid fluorescence technique. Based on vesicle type and cytochemical reactivity after chromate/dichromate fixation for electron microscopy at least two types of neural process were distinguished and classified as adrenergic and cholinergic. Both types are preferentially situated above or between the smooth muscles of the uterine tissue. Adjacent to the muscles in the walls of arterioles mainly adrenergic fibers are seen. Using high performance liquid chromatography with electrochemical detection in tissue homogenates of uterus a considerable amount of noradrenaline could be identified. The significance of the dense innervation is discussed with respect to the function of the uterus during pregnancy and birth. 相似文献
93.
94.
Familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), and tumour necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) are monogenic disorders included under the term??hereditary fever syndromes??. These diseases are characterized by recurrent episodes of fever and inflammation and arise from mutations of genes regulating the innate immune system. The present review describes the clinical and genetic spectrum of hereditary fever syndromes, which are of importance for genetic counseling. 相似文献
95.
A. Schossig PD Dr. N. Wolf M.J. Koch T. Bast G.F. Hoffmann J. Zschocke A. Kohlschütter 《Medizinische Genetik》2007,19(4):422-426
Kohlschütter-Tönz syndrome is a rare genetic disorder with neurologic symptoms – epilepsy and severe developmental delay – and defective enamel leading to yellow or brownish discoloration of teeth. The first family was described in 1974, all affected patients were male. In the meantime, families with both male and female patients were identified as well. Inheritance is thus most probably autosomal recessive; genetic heterogeneity can however not be ruled out. Clinical course and disease severity may differ even within one family. As the genetic basis has not yet been elucidated, diagnosis must be made on clinical grounds. We report three new children with Kohlschütter-Tönz syndrome in comparison to the 21 hitherto published cases. 相似文献
96.
Summary Branched histiocytic cells of the epidermis, the oral and anal mucosa, the tonsillar crypt epithelium, the thymus and of the T-cell-dependent areas of lymph node, spleen, and tonsil were examined with immunohistochemical single- and double-staining techniques. The markers used were a monoclonal anti-T6-antibody, a monoclonal anti-HLA-DR-antibody, heteroantiserum to S-100 protein and peanut agglutinin. Anti-HLA-DR and peanut agglutinin reacted with a considerable number of branched histiocytic cells, whereas anti-T6 and anti-S-100 protein only stained relatively small subpopulations. Concerning the population of branched histiocytic cells, double-staining revealed that the tissue distributions of all the markers used overlapped each other to various degrees; this was demonstrated by the different numbers of double-stained cells obtained in the experiments using all six possible combinations of primary reagents. The number of branched histiocytic cells co-expressing the markers varied depending upon marker combinations, types of tissue and microenvironment. We suggest that much of the immunologic phenotype of branched histiocytic cells is dynamic rather than static.Abbreviations used
BHCs
branched histiocytic cells
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anti-T6
monoclonal antibody to T6 antigen
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anti-HLA-DR
monoclonal antibody to HLA-DR
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anti-S-100p
antiserum to S-100 protein
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(anti-)PNA
(anti-)peanut agglutinin
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GAM
goat anti-mouse IgG
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RAM
rabbit anti-mouse IgG
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GAR-AP
alkaline phosphatase-conjugated goat anti-rabbit Ig
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SAR
porcine anti-rabbit Ig
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PAP
peroxidase-anti-peroxidase complex
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APAAP
alkaline phosphataseanti-alkaline phosphatase complex
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iAP
indirect alkaline phosphatase
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AEC
3-amino-9-ethylcarbazole
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FB
fast blue BB salt
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levamisole
L[-]2,3,5,6-tetrahydro-6-phenylimidazo[2,1-b]thiazole
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DMF
NN-dimethylformamide
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PBS
phosphate-buffered saline solution
- +
positive reaction of a cell with a resp. marker
- –
negative reaction of a cell with a resp. marker
This work was supported by the German Research Foundation (DFG: Mo.384/1-2) 相似文献