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  • 1
    ISSN: 1432-1076
    Keywords: Key words Skeletal dysplasia ; Desbuquois dysplasia ; Mild phenotype ; Siblings ; Diastrophic dysplasia sulphate transporter gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling Desbuquois dysplasia. The skeletal alterations in the present disorder, including generalized osteopenia, mild modification of the vertebral endplates, epiphyseal flattening of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femora), and advanced carpal skeletal age, are almost identical to those of Desbuquois dysplasia. However, postnatal growth failure and minor spondylo-articular problems in the present disorder contrast with the conspicuous prenatal growth failure and severe spondylo-articular deformities of Desbuquois dysplasia. Short stature in the present disorder does not reach the degree of Desbuquois dysplasia. Molecular investigation of one patient excluded abnormalities of the diastrophic dysplasia sulphate transporter gene. Conclusion The combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of “a mild variant of Desbuquois dysplasia”.
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  • 2
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A 34-year-old woman presented with 2-year history of a dome-shaped papule on a well-circumscribed, thickened, port-wine stain on the left side of the chin. Squeezing on the port-wine-stain plaque revealed many comedos within dilated follicular orifices. The papule was excised and submitted for histological examination. Histopathological study showed a lobular neoplasm, comprising dilated, cystic pilosebaceous structures surrounded by fibrous stroma, bearing the characteristics of folliculosebaceous cystic hamartoma. The reported case shows that, in addition to the vascular nature, both ectodermal and mesenchymal abnormalities may be involved in port-wine stains.
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  • 4
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We describe a new method for treating livedoid vasculopathy. The typical presentation of livedoid vasculopathy includes chronic, recurrent painful ulcers, satellite scar-like atrophy and telangiectasia involving the lower extremities. Histologically, these lesions show areas of ulceration and dermal vessel occlusion without frank inflammatory cell infiltration. There is currently no satisfactory therapy available for this disease. Hyperbaric oxygen (HBO) has recently established itself as one of the most effective methods of treating ischaemic wounds, including diabetic ulcers. We used this therapy in two patients whose lesions were resistant to multiple therapeutic modalities. Not only did their ulcers respond rapidly to the HBO therapy, but the disturbing wound pain also resolved at the same time. To our knowledge, this is the first successful trial of HBO therapy in livedoid vasculopathy. We believe this to be a very promising new therapy for livedoid vasculopathy and to be worth further investigation.
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  • 5
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Sera from 3528 patients with autoimmune disease, and non-autoimmune disease, and 500 normal individuals were studied For the presence of anticentromere antibodies (ACA) by indirect immunofluorescence on HEP-2 cells. Sixty-seven specimens were identified showing discrete speckled staining: 55 (82.1%), 11 (16.4%), and one (1.5%), were from patients with autoimmune disease, non-autoimmune disease and normal control subjects, respectively. These ACA were present frequently in CREST syndrome (55%), Raynaud's disease (29.6%) and primary biliary cirrhosis (30%). Only 16.4% of the antibody positive patients carried a clinical diagnosis of CREST, which means that ACA are not specific for CREST syndrome. High antibody titre persisted irrespective of whether or not the patients had active disease. The ACA were present infrequently in Sjögren's syndrome, systemic lupus erythematosus, rheumatoid arthritis, immune thrombocytopenic purpura, Graves' disease, immune haemolytic anaemia, and vitiligo. Sera from 107 patients with various other autoimmune diseases were negative for ACA.
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  • 6
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We have detected cytoplasmic anti-Golgi antibody (AGA) during a routine immunofluorescence test for detecting autoantibodies. Two sera from patients with rheumatoid arthritis (RA) reacted to the Golgi complex by an indirect immunofluorescence technique on HEp-2 cells. Localization of AGA in the Golgi complex was confirmed by double-staining with antibodies to β-COP. The effect of monensin on the integrity and morphology of the Golgi complex was also studied. To confirm the presence of AGA further, we performed immuno-electron microscopy. Both sera reacted with cytoplasmic antigen located in the Golgi complex of various animal tissues. Furthermore, by using the Western blot technique, both sera reacted to a relative molecular weight (MW) of 79 kDa (doublet) Golgi antigen purified from rat liver. To our knowledge, this study may be the first to identify the relative MW of Golgi antigen by the Western blot method. Identification of this antibody could provide better understanding of protein synthesis and secretion. The presence of AGA in RA patients further substantiates the diversified nature of autoantibody production seen in this disease.
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  • 7
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Anti-Golgi autoantibodies (AGAs) and their targets have been reported from several diseases. However, the association of AGAs, selective autoantigens and related clinical diseases is still obscure. In this study, the presence of AGAs in the sera of 5983 patients was screened to explore the association of AGAs and clinical diseases. By means of indirect immunofluorescence using HEp-2 cells, sera of 12 patients bearing AGAs were identified. The location of recognized Golgi autoantigen(s) was confirmed by the treatment of monensin and double immunostaining using β-COP. Using the immunoelectron microscopy, AGA immunoreactivity was clearly demonstrated at a stack structure, characteristic of the Golgi complex. Furthermore, analysis of the 12 AGA-positive sera by Western blot revealed at least 15 components of Golgi antigens with relative molecular weights ranging from 54 to 350 kDa, and several Golgi autoantigens identified may be novel. Notably, over half of the AGA-positive cases found belong to non-autoimmune diseases, particularly hepatic disorder. This study presents the association of AGAs, components of the Golgi complex and clinical diseases.
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  • 8
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
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  • 9
    ISSN: 1572-8935
    Keywords: Dynamic fatigue properties ; Branch length ; Branch frequency ; Tie molecule density ; Fracture surface morphology ; Failure cycle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Abstract Samples with the same weight average molecular weight and molecular weight distribution but different branch frequency were utilized to study the effects of branch frequency and thermal history on tie molecule density and their subsequent influence on the slow crack growth of short chain branched polyethylenes. The dynamic fatigue properties are improved significantly with increasing branch frequency and with samples crystalloid at fast cooling rate. However, at temperatures ranging from -20 to 80 °C. the amount of the failure cycle (Nf) improved due to the slight increase in branch frequency is less than those of samples prepared by crystallization at fast cooling rate. Additionally, it is interesting to note that the drawn fibers observed on the fracture surfaces were larger and longer for samples associated with longer Nf. In fact, it is interesting to note that the average number of tie molecules formed per chain (T(M)) of samples associated with longer Nt is also larger. This increasing in T(M) is suggested to be responsible for the improved fatigue properties of samples associated with larger branch frequency and crystallized at fast cooling rate.
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  • 10
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Homocystinuria is a rare, inherited metabolic disease frequently associated with severe multisystemic involvement such as dislocated lenses, skeletal deformities, mental retardation, and premature vascular occlusion. Arterial and venous thromboembolic events present frequent and life-threatening complications in homocystinuric patients. It has been suggested that mild homocystinemia would be a risk factor for vascular disease.
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