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Only One Report (only + one_report)
Selected AbstractsA case of bilateral scapholunate advanced collapse in a Romano-British skeleton from AncasterINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2006A. M. Roberts Abstract Degenerative joint disease (DJD) of the wrist (radiocarpal joint) is relatively uncommon in modern Western populations, usually occurring as a result of trauma. Clinically, scapholunate advanced collapse (SLAC) is the most common pattern of DJD seen in the wrist, involving a progressive destruction of the radioscaphoid and then the capitolunate joint. There is only one report of SLAC wrist in the palaeopathological literature. In this paper, we report on another ancient case of bilateral SLAC wrists, found in a Roman skeleton from Ancaster, Lincolnshire. The osteological analysis of ANC 01 217 skeleton determined that this was an elderly but robust adult (50+ years) male, about 165,cm tall. The bones were sufficiently well preserved to allow inspection of joint surfaces. The bones were also radiographed. Osteoarthritis (OA) was diagnosed according to accepted palaeopathological criteria: principally the presence of eburnation on a joint surface. Eburnation was found at the articular surfaces of the wrist joint and numerous intercarpal joints bilaterally. The pattern of joints affected matched modern clinical descriptions of SLAC wrist. Radiographic changes characteristic of OA were identifiable at the wrist joint, but not at the intercarpal joints. This case proves that SLAC wrist is identifiable in dry bones, but the discrepancy between the observational and radiographic findings highlights the problems encountered when attempting to compare disease in archaeological versus modern populations. Copyright © 2006 John Wiley & Sons, Ltd. [source] Absence of Borrelia burgdorferi DNA in cutaneous B-cell lymphomas from the United StatesJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2001Gary S. Wood Background: An association between Borrelia burgdorferi and cutaneous B-cell lymphoma (CBCL) has been made in several European countries. The evidence in favor of such an association has recently been based on more definitive tests for the pathogenetic role of B. burgdorferi in CBCL, including positive cultures or polymerase chain reaction (PCR) amplification of borrelial DNA from lesional skin. However, there is only one report of B. burgdorferi in four North American cases of B-cell lymphoma. Methods: We retrieved 38 cases of primary and secondary CBCL from different geographic regions of the United States. Two separate techniques were used to detect borrelial DNA by PCR, a nested PCR method to amplify a B. burgdorferi -specific gene as well as a borrelial chromosomal Ly-1 clone amplification method. Southern blot hybridization was used for confirmation of the PCR results. Results: No B. burgdorferi -specific DNA was detected in any of the 38 CBCL cases, whereas detectable PCR products were obtained with our positive controls. Conclusions: Our findings, in light of previous studies, suggest that B. burgdorferi plays a minimal role in the development or pathogenesis of CBCL in the United States. The findings also suggest that the geographic variations in the clinical manifestations of B. burgdorferi are indeed real and may be secondary to the genetic and phenotypic differences between B. burgdorferi strains present in Europe and North America. [source] Hydrops fetalis in three male fetuses of a female with incontinentia pigmentiPRENATAL DIAGNOSIS, Issue 12 2001Andreas Dufke Abstract Objectives Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontinentia pigmenti (IP) was associated with generalised oedema. We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF. Results Molecular genetic analysis showed a mutation in the NEMO/IKK, gene in the girl and the mother, which confirmed the diagnosis of IP in both cases. In the two fetuses that could be investigated, inheritance of the affected maternal X chromosome could be demonstrated retrospectively by linkage analysis. Conclusion The present findings suggest that IP might be an X-linked dominant trait causing HF in male fetuses. In cases of recurrent HF in male fetuses, minimal signs of IP in the maternal line should therefore be carefully investigated in order to be able to perform mutational analysis and to offer appropriate genetic counselling. Copyright © 2001 John Wiley & Sons, Ltd. [source] Hunter's syndrome and buphthalmos in a girl: an unusual ophthalmic associationACTA OPHTHALMOLOGICA, Issue 2009S SETHI Purpose To report an unusual ophthalmic presentation of a case of Hunter's syndrome/MPS II. Methods A sixteen-year-old girl presented to us with total loss of vision and forward protrusion OU since early childhood. Detailed examination, including slit lamp biomicroscopy, Intra ocular pressure (IOP) and fundoscopy was carried out. Thorough systemic evaluation including Computed Tomography (CT), metabolic and genetic analysis was undertaken in collaboration with internists. Results Characteristic facies, detection of glycosaminoglycan (GAG) variants in urine (chondroitin sulfate B and heparin sulfate) and iduronate-2-sulphatase activity in fibroblasts/leucocytes confirmed the diagnosis of MPS II. Child had severe photophobia but with no perception of light OU. OU buphthalmos with Haab's striae was noted, making a clear view of the fundus difficult. IOP OU was elevated, and 90D slit lamp biomicroscopy revealed a total glaucomatous optic atrophy in both eyes. On CT there was thickening and edema of preseptal and periorbital soft tissue with marked thinning of the optic nerves with prominent perineural CSF sleeves, indicative of marked optic atrophy. Conclusion Glaucoma is a known association of Hurler's, Scheie's and Maroteaux-Lamy syndromes but not Hunter's. In fact, there is only one report of suspected angle closure glaucoma in MPS II. Buphthalmos is not a likely presentation as the sclera in these patients is known to be thickened due to deposition of GAG. To the best of our knowledge, this is the first case report of buphthalmos in association with MPS II. The importance of a meticulous examination in this subset of patients cannot be overemphasised. An appropriate and timely intervention may result in a better quality of life for them. [source] | ||||||||||