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Background: Although cementless acetabular components are routinely used in revision hip surgery, few investigators have evaluated the retention and efficacy of these components in the long term. In the current study, the clinical and radiographic outcomes of a series of arthroplasties performed by one surgeon with a cementless acetabular component were assessed at a minimum of ten years.Methods: From 1986 through 1988, sixty-one consecutive revision total hip arthroplasties were performed in fifty-five patients because of aseptic failure of one or both components of a prosthesis in which both components had been cemented. Twenty-eight patients (thirty-two hips) were alive at a mean of 12.9 years (range, 11.5 to 14.3 years) after the operation. In all of the patients, the acetabular component was revised to a porous-coated Harris-Galante component inserted without cement, and the femoral component was revised to an Iowa component affixed with contemporary cementing techniques. The hips were evaluated clinically and radiographically at a minimum of ten years subsequent to the index revision. No hips were lost to follow-up.Results: None of the acetabular components required revision because of aseptic loosening. Two hips (3%) demonstrated radiographic evidence of aseptic loosening of the acetabular component. The polyethylene liner was exchanged during the follow-up period in eight hips.Conclusion: After a minimum of ten years of follow-up, cementless acetabular fixation in revision hip arthroplasty had produced durable results that were markedly better than those reported for acetabular fixation with cement. [ABSTRACT FROM AUTHOR]

There is increasing interest in forensic ancestry tests, which are part of a growing number of DNA analyses that can enhance routine profiling by obtaining additional genetic information about unidentified DNA donors. Nearly all ancestry tests use single nucleotide polymorphisms (SNPs), but these currently rely on SNaPshot single base extension chemistry that can fail to detect mixed DNA. Insertion-deletion polymorphism (Indel) tests have been developed using dye-labeled primers that allow direct capillary electrophoresis detection of PCR products (PCR-to-CE). PCR-to-CE maintains the direct relationship between input DNA and signal strength as each marker is detected with a single dye, so mixed DNA is more reliably detected. We report the results of a collaborative inter-laboratory exercise of 19 participants (15 from the EDNAP European DNA Profiling group) that assessed a 34-plex SNP test using SNaPshot and a 46-plex Indel test using PCR-to-CE. Laboratories were asked to type five samples with different ancestries and detect an additional mixed DNA sample. Statistical inference of ancestry was made by participants using the Snipper online Bayes analysis portal plus an optional PCA module that analyzes the genotype data alongside calculation of Bayes likelihood ratios. Exercise results indicated consistent genotyping performance from both tests, reaching a particularly high level of reliability for the Indel test. SNP genotyping gave 93.5% concordance (compared to the organizing laboratory's data) that rose to 97.3% excluding one laboratory with a large number of miscalled genotypes. Indel genotyping gave a higher concordance rate of 99.8% and a reduced no-call rate compared to SNP analysis. All participants detected the mixture from their Indel peak height data and successfully assigned the correct ancestry to the other samples using Snipper, with the exception of one laboratory with SNP miscalls that incorrectly assigned ancestry of two samples and did not obtain informative likelihood ratios for a third. Therefore, successful ancestry assignments were achieved by participants in 92 of 95 Snipper analyses. This exercise demonstrates that ancestry inference tests based on binary marker sets can be readily adopted by laboratories that already have well-established CE regimes in place. The Indel test proved to be easy to use and allowed all exercise participants to detect the DNA mixture as well as achieving complete and concordant profiles in nearly all cases. Lastly, two participants successfully ran parallel next-generation sequencing analyses (each using different systems) and achieved high levels of genotyping concordance using the exercise PCR primer mixes unmodified., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

This study reports on the comparison of a standard extraction process with the direct PCR approach of processing low-level DNA swabs typical in forensic investigations. Varying concentrations of control DNA were deposited onto three commonly encountered substrates, brass, plastic, and glass, left to dry, and swabbed using premoistened DNA-free nylon FLOQswabs(™) . Swabs (n = 90) were either processed using the DNA IQ(™) kit or, for direct PCR, swab fibers (~2 mm(2) ) were added directly to the PCR with no prior extraction. A significant increase in the height of the alleles (p < 0.005) was observed when using the direct PCR approach over the extraction methodology when controlling for surface type and mass of DNA deposited. The findings indicate the potential use of direct PCR for increasing the PCR product obtained from low-template DNA samples in addition to minimizing contamination and saving resources., (© 2015 American Academy of Forensic Sciences.)

Understanding the evolution of Australia's extinct marsupial megafauna has been hindered by a relatively incomplete fossil record and convergent or highly specialized morphology, which confound phylogenetic analyses. Further, the harsh Australian climate and early date of most megafaunal extinctions (39-52 ka) means that the vast majority of fossil remains are unsuitable for ancient DNA analyses. Here, we apply cross-species DNA capture to fossils from relatively high latitude, high altitude caves in Tasmania. Using low-stringency hybridization and high-throughput sequencing, we were able to retrieve mitochondrial sequences from two extinct megafaunal macropodid species. The two specimens, Simosthenurus occidentalis (giant short-faced kangaroo) and Protemnodon anak (giant wallaby), have been radiocarbon dated to 46-50 and 40-45 ka, respectively. This is significantly older than any Australian fossil that has previously yielded DNA sequence information. Processing the raw sequence data from these samples posed a bioinformatic challenge due to the poor preservation of DNA. We explored several approaches in order to maximize the signal-to-noise ratio in retained sequencing reads. Our findings demonstrate the critical importance of adopting stringent processing criteria when distant outgroups are used as references for mapping highly fragmented DNA. Based on the most stringent nucleotide data sets (879 bp for S. occidentalis and 2,383 bp for P. anak), total-evidence phylogenetic analyses confirm that macropodids consist of three primary lineages: Sthenurines such as Simosthenurus (extinct short-faced kangaroos), the macropodines (all other wallabies and kangaroos), and the enigmatic living banded hare-wallaby Lagostrophus fasciatus (Lagostrophinae). Protemnodon emerges as a close relative of Macropus (large living kangaroos), a position not supported by recent morphological phylogenetic analyses., (© The Authors 2014. Published by Oxford University Press on behalf of Molecular Biology and Evolution. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Criminal investigations would be considerably improved if DNA profiles could be routinely generated from single fingermarks. Here we report a direct DNA profiling method that was able to generate interpretable profiles from 71% of 170 fingermarks. The data are based on fingermarks from all 5 digits of 34 individuals. DNA was obtained from the fingermarks using a swab moistened with Triton-X, and the fibers were added directly to one of two commercial DNA profiling kits. All profiles were obtained without increasing the number of amplification cycles; therefore, our method is ideally suited for adoption by the forensic science community. We indicate the use of the technique in a criminal case in which a DNA profile was generated from a fingermark on tape that was wrapped around a drug seizure. Our direct DNA profiling approach is rapid and able to generate profiles from touched items when current forensic practices have little chance of success.

The human mitochondrial haplogroup C1 has a broad global distribution but is extremely rare in Europe today. Recent ancient DNA evidence has demonstrated its presence in European Mesolithic individuals. Three individuals from the 7,500 year old Mesolithic site of Yuzhnyy Oleni Ostrov, Western Russia, could be assigned to haplogroup C1 based on mitochondrial hypervariable region I sequences. However, hypervariable region I data alone could not provide enough resolution to establish the phylogenetic relationship of these Mesolithic haplotypes with haplogroup C1 mitochondrial DNA sequences found today in populations of Europe, Asia and the Americas. In order to obtain high-resolution data and shed light on the origin of this European Mesolithic C1 haplotype, we target-enriched and sequenced the complete mitochondrial genome of one Yuzhnyy Oleni Ostrov C1 individual. The updated phylogeny of C1 haplogroups indicated that the Yuzhnyy Oleni Ostrov haplotype represents a new distinct clade, provisionally coined "C1f". We show that all three C1 carriers of Yuzhnyy Oleni Ostrov belong to this clade. No haplotype closely related to the C1f sequence could be found in the large current database of ancient and present-day mitochondrial genomes. Hence, we have discovered past human mitochondrial diversity that has not been observed in modern-day populations so far. The lack of positive matches in modern populations may be explained by under-sampling of rare modern C1 carriers or by demographic processes, population extinction or replacement, that may have impacted on populations of Northeast Europe since prehistoric times.

Background: Mitochondrial DNA (mtDNA) typing can be a useful aid for identifying people from compromised samples when nuclear DNA is too damaged, degraded or below detection thresholds for routine short tandem repeat (STR)-based analysis. Standard mtDNA typing, focused on PCR amplicon sequencing of the control region (HVS I and HVS II), is limited by the resolving power of this short sequence, which misses up to 70% of the variation present in the mtDNA genome., Methods: We used in-solution hybridisation-based DNA capture (using DNA capture probes prepared from modern human mtDNA) to recover mtDNA from post-mortem human remains in which the majority of DNA is both highly fragmented (<100 base pairs in length) and chemically damaged. The method 'immortalises' the finite quantities of DNA in valuable extracts as DNA libraries, which is followed by the targeted enrichment of endogenous mtDNA sequences and characterisation by next-generation sequencing (NGS)., Results: We sequenced whole mitochondrial genomes for human identification from samples where standard nuclear STR typing produced only partial profiles or demonstrably failed and/or where standard mtDNA hypervariable region sequences lacked resolving power. Multiple rounds of enrichment can substantially improve coverage and sequencing depth of mtDNA genomes from highly degraded samples. The application of this method has led to the reliable mitochondrial sequencing of human skeletal remains from unidentified World War Two (WWII) casualties approximately 70 years old and from archaeological remains (up to 2,500 years old)., Conclusions: This approach has potential applications in forensic science, historical human identification cases, archived medical samples, kinship analysis and population studies. In particular the methodology can be applied to any case, involving human or non-human species, where whole mitochondrial genome sequences are required to provide the highest level of maternal lineage discrimination. Multiple rounds of in-solution hybridisation-based DNA capture can retrieve whole mitochondrial genome sequences from even the most challenging samples.

The Prodigy femoral component was extensively coated along its entire length, except for a smooth bullet-shaped distal tip. At a minimum 5 year followup we compared the results of that stem to those of a proximally coated first generation femoral component at comparable followup to address the question of which design performed better. For the extensively coated cohort, 86 patients (100 hips) underwent total hip arthroplasty by a single surgeon. At final followup, no patients were lost to followup and no hips were revised for aseptic loosening. Clinically, 3% of patients reported thigh pain (versus 15% in the proximally coated group). Radiographically, all hips had evidence of bone ingrowth (versus 94% in the PCA group). As expected with an extensively coated device there were fewer radiolucencies around the lower half of the prosthesis as well as less distal femoral lysis compared to the proximally coated stem.

The purpose of the current study was to update the results of a prospective, single-surgeon series of primary Charnley total hip arthroplasties performed with cement. This investigation is one of the first studies in which hips treated with total hip arthroplasty with cement were followed for a minimum of thirty years. Twenty-seven patients (thirty-four [10.3%] of the hips in the initial study group) were alive at a minimum of thirty years postoperatively. These patients served as the focus of the present study. Revision because of aseptic loosening of the acetabular component was performed in 7.3% (twenty-three) of the hips from the original study group (excluding those revised because of infection or dislocation) and 26% (eight) of the hips in the living cohort. Revision because of aseptic loosening of the femoral component was performed in 3.2% (ten) of the hips from the original study group (excluding those revised because of infection or dislocation) and 10% (three) of the hips in the living patients. Since the twenty-five-year review, three hips were revised (one because of acetabular loosening, one because of femoral loosening, and one because of instability). This end-result study demonstrated the remarkable durability of cemented Charnley total hip replacements over a span of three decades, with 88% of the original prostheses intact at the time of the final follow-up or at the patient's death.

Between November 1988 and January 1991, 101 press-fit condylar (PFC; Johnson & Johnson, Raynham, MA) posterior cruciate-retaining total knee arthroplasties were performed in 75 patients. All tibial components were modular metal-backed, and all patellar components were all-polyethylene. All living patients were evaluated at an average 10.5 years (range, 9.5-11.8 years). Only 1 knee required revision (at 11.1 years after the procedure), and only 1 other knee had evidence of radiographic failure. The average range of motion was 1 degrees (range, 0 degrees -10 degrees ) to 110 degrees (range, 86 degrees -130 degrees ). At 10 years of follow-up, the probability of prosthesis survival was 100%, and at 12 years, the probability of prosthesis survival was 93.3% (endpoint defined as revision for any reason)., (Copyright 2002, Elsevier Science (USA). All rights reserved.)

The current study evaluates the 4- to 8-year results of 26 cemented femoral revisions with impaction allografting using a collared femoral component in cases of extensive femoral bone loss. Patients were followed prospectively and were evaluated at an average of 6.0 years after the allograft revision procedure. The average age at the time of surgery was 69.3 years. At final follow-up, 20 patients (20 hips) were living, and 6 patients (6 hips) were deceased. No femoral component rerevisions were performed for any reason in any patient, and none were radiographically loose at final follow-up. There was 1 subsided femoral component of <5 mm, 3 postoperative periprosthetic femoral fractures, and a greater trochanter nonunion rate of 32%. At the current follow-up interval, these cemented femoral revisions with impaction allografting have performed well with excellent clinical and radiographic durability in this difficult patient population. The prevalence of periprosthetic fracture is a significant concern. This study shows durable results using the impaction allografting technique in cases of severe bone loss.