25 research outputs found

    Size Does Matter: The Role of Patient's Body Surface Predicting Surgical Difficulty in Total Knee Replacement.

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    Introduction: Total knee replacement (TKR) is a frequently performed surgery with reported very positive outcomes. However, the difficulty of TKR surgery can vary greatly between patients. Many factors have been related to higher surgical difficulty in TKR, but the role of patient anthropometry is still unclear. Although patient Body Mass Index (BMI) is known to affect the postoperative outcome after TKR, it has not proved to be a reliable predictor of surgical difficulty. The aim of this work was to state whether if the patient's overall size, measured with the patient's body surface, had a direct impact on surgical difficulty. Material and methods: We retrospectively reviewed 250 patients who underwent TKR surgery in our center from January 2014 to October2014. The following data were collected from the pre-anesthesia evaluation sheet: age (in years), weight (in kilograms), height (in centimeters),BMI (using the formula weight/height2), body surface (using Dubois' formula [20], x = 0.007184 x weight (kg)0.425 x height (cm)0.725) expressed in m2, and surgical times. Statistical analyses were performed. Results: After the analyses we found there wasn't association between high BMI and higher surgical times. However, there was a direct relation between surgical times and patient body surface values. These findings were statistically significant. Conclusion: In our experience, the patient's body surface is a reliable predictor of surgical difficult

    Can the intra-operative measurement of the diameter of the femoral head help surgeons to choose the best size of the acetabular cup?

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    Purpose: We hypothesized that the intra-operative measurement of the femoral head may increase the accuracy of the acetabular cup size optimal selection in total hip arthroplasty (THA). The purpose of this clinical research was to analyze the correlation between the estimated cup size from intra-operative measurement of the femoral head and the pre-operative templated cup size. Methods: A prospective observational single-center study was conducted from June 2019 to January 2020 including primary THA (n = 100). All cases were pre-operatively templated. The measurement of the anterior-posterior diameter of the femoral head was routinely intra-operatively performed. Any definitive implanted cup was considered as 'oversized' when the size was > 4 mm than the diameter of the native head. Results: The median (interquartile range) size of the implanted cup, pre-operative planned cup size, and diameter of the femoral head were measured 52 (50-54) mm, 50 (48-54) mm and 49 (45-51) mm, respectively. Pre-operative planned size cup accurately predicted the implanted cup or differed in only one size (2 mm) in 77 (78%) cases. Otherwise, intra-operative femoral head measurement method accurately predicted the implanted or differed in only one size (2 mm) in 51 (87%) cases (p = 0.097). Conclusion: The intra-operative femoral head measurement is a simple and reliable tool to help the surgeons choose the best size of the acetabular cup and is as reliable as the pre-operative templating in order to avoid cup oversizing in THA. Utmost caution is warranted whenever the cup reamer is > 4 mm than the anterior-posterior diameter of the native head

    Intraoperative Transfusion of Red Blood Cell Units Stored >14 Days is Associated with an Increased Risk of Prosthetic Joint Infection.

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    Background: The aim of the present study was to evaluate the association between prosthetic joint infection (PJI) after joint arthroplasty and the length of red blood cell (RBC) storage, timing of RBC transfusion, and the number of RBC units transfused. Study design and Methods: All patients who underwent a primary or revision joint artrhoplasty between January 2000 and December 2012 were retrospectively reviewed. For this study, only patients who received RBC transfusions during the day of the surgery (early transfusion group) or within the first 4 days after surgery (late transfusion group) were included. Results: A total of 9906 patients were reviewed. In the early transfusion group (n=1153, 11.6%), patients receiving 1 or 2 RBC units (3.5% vs 6.3%, P=0.041), 3 or 4 RBC (1.3% vs 13.3%, P=0.004) or ≥5 RBC units (5.0% vs 37.5%, P=0.026) had a higher PJI rate only when >50% of RBC units transfused had been stored >14 days. In the late transfusion group (n=920, 9.3%) these differences were not significant. Early transfusion of RBCs stored >14 days was an independent variable associated with an increased risk of PJI (OR:2.50, 95%CI:1.44-4.33) Conclusion: Transfusion of RBC within the first 6h after joint arthroplasty was an independent variable associated with PJI risk when RBC units are stored >14 days. The rate of PJI increased with the number of old RBC units transfused within this critical period

    A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

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    We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set. I2HCP changed our diagnostic approach, involving clinicians and a genetic diagnostics team from panel design to reporting. The new strategy improved diagnostic sensitivity, solved uncertain clinical diagnoses and identified mutations in new genes. We assessed the genetic variation in the complete set of hereditary cancer genes, revealing a complex variation landscape that coexists with the disease-causing mutation. We developed, validated and implemented a custom NGS-based strategy for hereditary cancer diagnostics that improved our previous workflows. Additionally, the existence of a rich genetic variation in hereditary cancer genes favors the use of this panel to investigate their role in cancer risk

    Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

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    Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes

    A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

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    Altres ajuts: Asociación Española Contra el Cáncer; Asociación de Afectados de Neurofibromatosis; ACNefiWe wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We improved bait design, tested different NGS platforms and created a clinically driven custom data analysis pipeline. The I2HCP panel was developed using a training set of hereditary colorectal cancer, hereditary breast and ovarian cancer and neurofibromatosis patients and reached an accuracy, analytical sensitivity and specificity greater than 99%, which was maintained in a validation set. I2HCP changed our diagnostic approach, involving clinicians and a genetic diagnostics team from panel design to reporting. The new strategy improved diagnostic sensitivity, solved uncertain clinical diagnoses and identified mutations in new genes. We assessed the genetic variation in the complete set of hereditary cancer genes, revealing a complex variation landscape that coexists with the disease-causing mutation. We developed, validated and implemented a custom NGS-based strategy for hereditary cancer diagnostics that improved our previous workflows. Additionally, the existence of a rich genetic variation in hereditary cancer genes favors the use of this panel to investigate their role in cancer risk

    Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

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    Acknowledgements: We thank all patients who contributed to this study. The work was supported by grants from the Instituto de Salud Carlos III (ISCIII, MINECO) (operating grants: PI13/00285 and RD12/0036/0008 awarded to C.L. and PIE13/00022 and RD12/0036/0031 awarded to G.C.) and confunded by FEDER funds/European Regional Development Fund (ERDF) - a way to Build Europe-"// FONDOS FEDER "una manera de hacer Europa", the Generalitat de Catalunya (Government of Catalonia) (operating grant 2014SGR338, awarded to G.C.) and the Asociación Española Contra el Cáncer (operating grants, 2010 Grupos Estables, awarded to G.C.). J.B. received a Spanish Society of Medical Oncology grant. This activity is sponsored by the ISCIII Ministerio de Economía y Competitividad (PT13/0001/0044).Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes

    Withholding Preoperative Antibiotic Prophylaxis in Knee Prosthesis Revision:A Retrospective Analysis on Culture Results and Risk of Infection

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    Background: A significant amount of patients undergoing revision surgery of a prosthetic joint turn out to have an infection. Withholding preoperative antibiotic prophylaxis in these patients to optimize culture yield during revision surgery remains a matter of debate. The aim of our study was to determine (1) the rate of positive intraoperative cultures with or without preoperative antibiotic prophylaxis and (2) the incidence of a prosthetic joint infection (PJI) during the follow-up in the 2 groups. Methods: Medical files of patients in whom preoperative antibiotic prophylaxis was withheld until culture samples were taken (2007-2010, n = 284) and in whom antibiotic prophylaxis was given during the induction of anesthesia (2010-2013, n = 141) were retrospectively reviewed. Results: The percentage of >= 1 positive cultures was the same in the group without (26%) and with preoperative prophylaxis (27%; P value, .7). PJI was diagnosed during revision surgery according to the Musculoskeletal Infection Society criteria in 6.7% patients not receiving preoperative prophylaxis and in 7.0% receiving it (P value, .79). We found no important differences in the type of microorganisms that were isolated in both groups. During a 3-month follow-up, an early PJI developed in patients undergoing total revision surgery in 6.4% of the nonpreoperative prophylaxis group vs 1.6% in the preoperative prophylaxis group (P value, .1). Conclusion: Preoperative antibiotic prophylaxis does not reduce culture yield in patients undergoing knee revision surgery. Our data show a trend toward a higher PJI rate in the postoperative period of total revision surgery when preoperative prophylaxis is withheld
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