82 research outputs found

    FDG-PET: a new diagnostic approach in hip prosthesis infection

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    Infection following hip arthroplasties can present a diagnostic challenge. No test is 100 % sensitive and 100 % specific; this prospective study was undertaken to evaluate the utility of FDG-PET imaging for diagnosing infected joint replacements. 24 hip joint replacements were studied prospectively and we have complete diagnoses with clinical signs and symptoms, laboratory test, radiography, joint aspiration, radionuclide imaging including FDG-PET, and histopathologic examination. 11 of 24 prostheses were infected. The sensitivity and specificity of PET for detecting infection associated with prostheses were 64,3 % and 64,7 % respectively, in our hands. FDG imaging is not useful in patients with suspected prosthetic infection like a screening tes

    Limb salvage in bone sarcomas in patients younger than age 10. A 20-year experience.

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    The authors present their experience over the last 20 years in limb salvage procedures of a consecutive series of 40 children under 10 years of age (range 2-10 years) with bone sarcomas. Nineteen were osteogenic sarcomas and 21 were Ewing sarcomas. Only one case, located in the distal phalanx of the toe, was treated by straightforward amputation. Intercalary allografts and Canadell's technique were used to preserve joints whenever possible, and prosthesis or osteoarticular allografts were used when the joint surface was involved. Survival rate in this series was 75%. There were four local recurrences. At the last follow-up (mean 11.2 years, range 5-19 years postop), 90% of the patients preserved their limbs. Eighty percent of the authors' results were excellent or good according to the Musculoskeletal Tumor Society Scale. Limb salvage is a real possibility even in young children with bone sarcomas. The age of the patient itself is not a contraindication for limb salvage

    Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach

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    Background and objectives: alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection. Materials and methods: we performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay. Results: we detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified. Conclusion: the incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region

    Positive culture in allograft ACL-reconstruction: what to do?

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    The transmission of disease or infection from the donor to the recipient is always a risk with the use of allografts. We carried out a research study on the behavioural pattern of implanted allografts, which were initially stored in perfect conditions (all cultures being negative) but later presented positive cultures at the implantation stage. Because there is no information available on how to deal with this type of situation, our aim was to set guidelines on the course of action which would be required in such a case. We conducted a retrospective study of 181 patients who underwent an ACL reconstruction using BPTB allografts. All previous bone and blood cultures and tests for hepatitis B and C, syphilis and HIV were negative. An allograft sample was taken for culture in the operating theatre just before its implantation. The results of the cultures were obtained 3-5 days after the operation. We had 24 allografts with positive culture (13.25%) after the implantation with no clinical infection in any of these patients. Positive cultures could be caused by undetected contamination while harvesting, storing or during manipulation before implantation. The lack of clinical signs of infection during the follow-up of our patients may indicate that no specific treatment-other than an antibiotic protocol-would be required when facing a case of positive culture of a graft piece after its implantation

    Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency : a new approach

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    Ajuts: grant from the Fundación Catalana de Pneumología (FUCAP 2014), funding from Grifols to the Catalan Center for Research in AATD of the Vall d'Hebron Research InstituteAlpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory. The objective of this study was to test the usefulness of this new algorithm for Mmalton detection. We performed a retrospective revision of all AATD determinations carried out in our laboratory over 2 years using the new diagnostic algorithm. Samples with a phenotype showing one or two M alleles and AAT levels discordant with that phenotype were analyzed using the Mmalton allele-specific genotyping assay. We detected 49 samples with discordant AAT levels; 44 had the MM and five the MS phenotype. In nine of these samples, a single rare Mmalton variant was detected. During the study period, two family screenings were performed and four additional Mmalton variants were identified. The incorporation of the Mmalton allele-specific genotyping assay in the diagnostic algorithm of AATD resulted in a faster and cheaper method to detect this allele and avoided a significant delay in diagnosis when a sequencing assay was required. This methodology can be adapted to other rare variants. Standardized algorithms are required to obtain conclusive data of the real incidence of rare AAT alleles in each region

    Clinical highlights from the 2016 European Respiratory Society International Congress

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    This article contains highlights and a selection of the scientific advances from the European Respiratory Society (ERS) Clinical Assembly (Assembly 1) and its six respective groups (Groups 1.1–1.6) that were presented at the 2016 ERS International Congress in London, UK. The most relevant topics for clinicians will be discussed, covering a wide range of areas including clinical problems, rehabilitation and chronic care, thoracic imaging, interventional pulmonology, diffuse and parenchymal lung diseases, and general practice and primary care. In this comprehensive review, the newest research and actual data will be discussed and put into perspective
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