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  • 11
    Digitale Medien
    Digitale Medien
    Biochemical and biophysical alterations of the 7S and NC1 domain of collagen IV from human diabetic kidneys (1998)
    Springer
    Diabetologia 41 (1998), S. 1073-1079 
    Details
    ISSN: 1432-0428
    Schlagwort(e): Keywords Circular dichroism ; collagen IV ; diabetes ; glycation ; nephropathy.
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Glycation of basement membrane collagen IV has been implicated as a major pathogenetic process leading to diabetic microvascular complications. To evaluate the relevance of carbohydrate-induced modifications on collagen IV in diabetic nephropathy, we isolated the cross-linking domains 7S and NC1 from the glomerular basement membrane (GBM) of patients with diabetes mellitus. Modifications characteristic for glycated proteins were identified when the domains from diabetic kidney were compared with the same domains from human placenta as an unmodified control. In both domains a marked formation of inter-and intramolecular cross links could be demonstrated by SDS-PAGE. Furthermore circular dichroism studies showed a decrease in helicity of the 7S domain from human diabetic kidneys of 13 %, indicating denaturation already at room temperature. Thermal transition profiles, showing a shift of the denaturation temperature towards a lower temperature, with loss of a distinct second melting point, confirmed this observation. Our data provide further evidence for a possible role of protein-modification by glycoxidative reactions in the onset of diabetic nephropathy in vivo. [Diabetologia (1998) 41: 1073–1079]
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001250051032
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  • 12
    Digitale Medien
    Digitale Medien
    Presence of type III collagen in bone from a patient with osteogenesis imperfecta (1977)
    Springer
    European journal of pediatrics 125 (1977), S. 29-37 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Osteogenesis imperfecta ; Collagen types ; Bone ; In vitro study ; Immunofluorescence
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Samples of bone from a patient with osteogenesis imperfecta were found to synthesize and contain type III collagen as well as type I collagen. Normal bone contains only type I collagen except in the lining cells of the bone marrow cavities. In the patient's tissue, type III collagen was localized in nonfibrillar structures in discrete areas of the bone. These and previous studies indicate that certain types of osteogenesis imperfecta may be caused by a failure of normal bone maturation and the sites in which the type III collagen is found appear to be defects in the bone.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00470603
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  • 13
    Digitale Medien
    Digitale Medien
    Progeria: A cell culture study and clinical report of familial incidence (1977)
    Springer
    European journal of pediatrics 124 (1977), S. 101-111 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Hutchinson-Gilford-syndrome ; Familial incidence ; Autosomal-recessive disorder ; Fibroblast cultures ; Collagen types ; Thymidine incorporation ; Immunofluorescence
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00477545
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  • 14
    Digitale Medien
    Digitale Medien
    Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome) (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 505-508 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Osteogenesis imperfecta ; Joint contractures ; Collagen fibrils ; Mineralization
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We describe a male patient with osteogenesis imperfecta (OI) who was born with contractures of the knee, elbow and ankle joints. During the first 4 years he suffered from recurrent fractures. He has white sclerae, mild dentinogenesis imperfecta, multiple wormian bones, severe scoliosis and short stature. Morphological analysis of cortical bone revealed typical characteristics of OI including varying width of the osteoid, swollen mitochondria and a dilated endoplasmic reticulum of the osteoblasts. Collagen fibrils of the osteoid had a varying diameter, a feature not found in typical OI patients. Analysis of compact bone showed that the size of apatite crystals and the extractability of collagen with pepsin were markedly elevated compared to controls and other OI type III and IV patients. Lysyl hydroxylation of collagen from the organic bone matrix and the electrophoretic mobility of collagen α1(I)- and α2(I)-chains were normal. Our results provide evidence that this patient belongs to a subtype of OI. The biochemical studies indicate that the underlying defect involves defective fibril-formation of collagen type I leading to an altered mineralization of bone.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955060
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  • 15
    Digitale Medien
    Digitale Medien
    Liver metastases: interventional therapeutic techniques and results, state of the art (1999)
    Springer
    European radiology 9 (1999), S. 675-684 
    Details
    ISSN: 1432-1084
    Schlagwort(e): Key words: Liver metastases ; Interventional treatment modalities ; Alcohol injection ; Drug instillation ; Radiofrequency ablation ; Cryotherapy ; Laser-induced interstitial thermotherapy ; Regional chemoembolisation
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. The liver is the most common site of metastatic tumour deposits. Hepatic metastases are the major cause of morbidity and mortality in patients with gastrointestinal carcinomas and other malignant tumours. The rationale and results for interventional therapeutic techniques in the treatment of liver metastases are presented. For the treatment of patients with irresectable liver metastases, alternative local ablative therapeutic modalities have been developed. Technique and results of local interventional therapies are presented such as microwave-, radiofrequency (RF)- and ultrasound ablation, and laser-induced interstitial therapy (LITT), cryotherapy and local drug administration such as alcohol injection, endotumoral chemotherapy and regional chemoembolisation. In addition to cryotherapy, all ablative techniques can be performed percutaneously with low morbidity and mortality. Cryotherapy is an effective and precise technique for inducing tumour necrosis, but it is currently performed via laparotomy. Percutaneous local alcohol injection results in an inhomogeneous distribution in liver metastases with unreliable control rates. Local chemotherapeutic drug instillation and regional chemoembolisation produces relevant but non-reproducible lesions. Laser-induced interstitial thermotherapy (LITT) performed under MRI guidance results in precise and reproducible areas of induced necrosis with a local control of 94 %, and with an improved survival rate. Interventional therapeutic techniques of liver metastases do result in a remarkable local tumour control rate with improved survival results.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s003300050732
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  • 16
    Digitale Medien
    Digitale Medien
    Interventional MR: interstitial therapy (1999)
    Springer
    European radiology 9 (1999), S. 1479-1487 
    Details
    ISSN: 1432-1084
    Schlagwort(e): Key words: Interventional MRI ; Interstitial therapy ; MR-guided laser-induced interstitial thermotherapy
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. The rationale and results for interstitial therapies via interventional MRI in the treatment of tumors in various regions are presented. Different interstitial treatment techniques are presented based on varying technologies both for tumor ablation and treatment monitoring. Data are presented based on 335 patients, 29–84 years of age (mean age 59 years, 196 men and 139 women) with a total of 932 liver tumors, 16 head and neck tumors and 14 abdominal recurrent pelvic and lymphatic tumors. All lesions had been treated with MR-guided laser-induced interstitial thermotherapy (LITT) via 2516 laser applications and 1856 cannulations. Data in the literature are extremely varying depending on author experience, treatment technique, and the included patient material. In our patient material we were able to achieve a local tumor control of 96.7 % depending on the size of the tumorous lesion, the topographical relationship, and the applied laser parameters. The overall cumulative survival rate of patients with liver metastases was 45.74 months (median 40.97 months, 95 % confidence interval 31.42–50.52). The cumulative survival rate of the patient group with hepatic metastases of colorectal carcinoma was 42.71 months (median 39.33 months, 95 % confidence interval 33.26–45.37). In patients with head and neck tumors a relevant reduction in clinically relevant symptoms such as pain, swallowing disorders, or nervous compression was achieved in 11 of 15 patients treated with LITT. In 14 soft tissue tumors, such as pelvic tumor recurrence and lymph node metastases, a local tumor control was obtained in 68 % of lesions. Interstitial therapies under interventional MRI guidance, such as LITT, results in a high local tumor control with an improved survival rate.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s003300050874
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  • 17
    Digitale Medien
    Digitale Medien
    Autoantibodies to cartilage collagens in relapsing polychondritis (1993)
    Springer
    Archives of dermatological research 285 (1993), S. 245-249 
    Details
    ISSN: 1432-069X
    Schlagwort(e): Relapsing polychondritis ; Autoantibody ; Collagen ; Cartilage
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Relapsing polychondritis is a systemic disease associated with a destruction of cartilage in various parts of the body. Sera from six patients with relapsing polychondritis and one patient with microscopic polyarteritis nodosa as well as from six controls were analyzed by immunoblotting and ELISA. All patients had autoantibodies against native collagens II and IX. The serum from one patient showed a strong reaction with all three collagen chains of the high molecular weight fraction of collagen IX after denaturation; sera from four patients showed autoantibodies against α2 (XI) and sera from three patients showed autoantibodies against the covalently cross-linked γ component of collagen XI. The presence of autoantibodies against collagens II, IX, and XI, which form the major fibrillar scaffold in cartilage and mediate the interaction of collagen fibrils and proteoglycan, suggests that autoantibodies against cartilaginous collagen may play a crucial role in the pathogenesis of relapsing polychondritis and microscopic polyarteritis nodosa.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00371591
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  • 18
    Digitale Medien
    Digitale Medien
    Ehlers-Danlos syndrome type VII: phenotype and genotype (1994)
    Springer
    Archives of dermatological research 286 (1994), S. 425-428 
    Details
    ISSN: 1432-069X
    Schlagwort(e): Ehlers Danlos syndrome ; Collagen
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A patient suffering from a severe form of Ehlers-Danlos syndrome is presented (EDS type VII). The presence of bilateral congenital hip dislocation, generalized joint hypermobility and a soft hyperelastic skin with abnormal scarring suggested a specific collagen type I defect. SDS-PAGE analysis of collagens secreted into the medium of fibroblast cultures showed a retarded migration of more than half of the α2(I) chains. CNBr peptide mapping of the HPLC-purified altered chain localized the mutant locus to the N-terminal region of the protein. cDNA analysis of the corresponding gene COL1A2 revealed, in addition to the expected collagen sequence, a transcript missing the entire exon 6. This exon encodes a major crosslinking site within collagen fibres as well as the N-propeptidase cleavage site. The skipping of exon 6 is caused by a splice site mutation substituting an A for a G at the first nucleotide of intron 6.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00371566
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  • 19
    Digitale Medien
    Digitale Medien
    Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 41-49 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount of hydroxylysine found in healthy individuals. Hydroxylation of prolyl residues was normal in the skin of the patient and his parents. Investigation of the collagen synthesized by fibroblasts derived from the skin of the patient showed a normal proportion of type I and type III collagen. However, while hydroxylation of prolyl residues was normal in type I and type III collagen, hydroxylation of lysyl residues was markedly lower than normal in both type I and type III collagen.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00278900
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  • 20
    Digitale Medien
    Digitale Medien
    223. Die Dupuytrensche Kontraktur (1978)
    Springer
    Langenbeck's archives of surgery 347 (1978), S. 696-697 
    Details
    ISSN: 1435-2451
    Schlagwort(e): Dupuytren's contracture, pathology, therapy ; Klinik ; Pathologie ; Biochemie ; Therapie
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Zusammenfassung Über die Pathogenese, Verteilung, Häufigkeit und Seitenbefall bezogen auf Hand und Fingerstrahl, wird aufgrund einer Nachuntersuchung von 954 Patienten berichtet. Zusätzlich werden immunhistologische sowie elektronenoptische Untersuchungsergebnisse über Kollagenstruktur und Kollagentyp aufgeführt. Biochemische Untersuchungen an Zellkulturen zeigen, daß Kollagentyp I und III vorherrscht. Anschließend wird das operative Vorgehen, die Nachbehandlung und postoperative Komplikationen aufgezeigt.
    Notizen: Summary Based on late postsurgical examinations of 954 patients, the etiology, distribution, frequency, and location of the disease in the hand are presented. In addition, the results of immunohistologic and electron-microscopic examinations for collagen structure and collagen type are presented. Biochemical tests on cell cultures proved types I and III to be predominant. Finally, the surgical procedure, postsurgical treatment, and surgical complications are demonstrated.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01579515
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