45 research outputs found

    The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote

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    BackgroundInheritance of the F variant of alpha-1-antitrypsin is associated with normal circulating protein levels, but it is believed to be dysfunctional in its ability to inhibit neutrophil elastase and therefore has been implicated as a susceptibility factor for the development of emphysema. In this study, its functional characteristics were determined following the identification of a unique patient with the PiFF phenotype, and the implications as a susceptibility factor for emphysema are considered both in homozygotes and heterozygotes.MethodsSecond order association rate constants were measured for M, Z, S and F variants of alpha-1-antitrypsin with neutrophil elastase and proteinase 3. Clinical characteristics of the PiFF homozygote and six PiFZ heterozygote subjects were studied.ResultsThe F variant had a reduced association rate constant with neutrophil elastase (5.60???0.83 ? 106 M-1?s-1) compared to the normal M variant (1.45???0.02 ? 107 M-1?s-1), indicating an increased time to inhibition that was comparable to that of the Z variant (7.34???0.03 ? 106 M-1?s-1). The association rate constant for the F variant and proteinase 3 (1.06???0.22 ? 106 M-1?s-1) was reduced compared to that with neutrophil elastase, but was similar to that of other alpha-1-antitrypsin variants. Of the six PiFZ heterozygotes, five had airflow obstruction and radiological evidence of emphysema. The PiFF homozygote had airflow obstruction but no emphysema. None of the patients had clinical evidence of liver disease.ConclusionsThe F variant may increase susceptibility to elastase-induced lung damage but not emphysema, whereas co-inheritance with the Z deficiency allele may predispose to emphysema despite reasonable plasma concentrations of alpha-1-antitrypsin

    Facial acquisition by dynamic optical tracked laser imaging : a new approach

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    Three-dimensional capture of the surface of soft tissue is a desirable support for documentation and therapy planning in plastic and reconstructive surgery concerning the complex anatomy of the face, particularly cleft lip and palate (CLP). Different scanning systems are used for capturing facial surfaces. These systems are mostly based on a static linear measuring arrangement. Established systems work on the basis of coded white light or linear laser triangulation and digital stereophotogrammetric approaches. Shadowing effects occur with these devices. These effects may be avoided by a radical new approach first used in automotive industries that employs a mobile, flexible handheld laser scanner with simultaneous registration by optical tracking. The aim of this study was to assess the suitability of this scanner for surgical procedures on the human face in operating theatre. Five babies aged about 3 months with cleft deformities (one CLP, one bilateral CLP, three isolated cleft lips) were captured directly: twice preoperatively, twice postoperatively and twice after 7 days. An industrial standard specimen and two plaster cast masks of CLP babies were taken and subsequently measured to assess reliability and validity of the device. Masks were measured to reflect the complex surface of the cleft deformity. Data evaluation was done with respect to completeness of the data sets, as well as reliability and validity of the system. Missing data caused by shadowing could be avoided in all images. Even complex areas with undercuts could be reproduced completely and precisely with an accuracy in the sub-millimetre range

    [Ganglioneuroma revealed by complicated nephritic colic]

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    International audienceINTRODUCTION: Ganglioneuroma is a rare benign nervous tumour frequently located in the retroperitoneal area. We report the case of a 22-year-old female patient where this tumour was revealed by nephritic colic complicated by pyelitis and kidney abscess. EXEGESIS: The patient presented with brutal feverish lumbar pains and urinary signs. Abundant iconography, in particular contrasted enhanced sonography, allowed to show a massive retroperitoneal lump and a puncture-biopsy indicated a ganglioneuroma which was surgically removed by laparotomy. Signs may be varied and misleading. Biological and radiological exams are useful for the diagnosis which can only be confirmed by the thorough histological examination of the removed sample. CONCLUSION: A large retroperitoneal lump without alteration of the patient's health should point to this diagnosis, since the complete surgical removal leads to recovery without recurrence, but all the other differential diagnoses must first be dismissed

    Bilans radiatif et d’énergie dans un canyon urbain

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    Une campagne de mesures en climatologie urbaine a Ă©tĂ© rĂ©alisĂ©e durant l’étĂ© 2002 Ă  Strasbourg dans le cadre du projet RECLUS. Parmi les sites de mesures, un Ă©chafaudage installĂ© dans une rue a permis de rĂ©aliser des mesures continues de diffĂ©rents paramĂštres mĂ©tĂ©orologiques sur quatre niveaux. L’objectif Ă©tait de documenter les diffĂ©rents processus physiques qui interviennent dans l’élaboration du microclimat Ă  l’intĂ©rieur d’un canyon urbain. Le prĂ©sent article dĂ©crit les mesures et les premiers rĂ©sultats obtenus en ce qui concerne les bilans radiatifs et d’énergie Ă  l’échelle du canyon urbain
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