1 . The magnitude of the problem of congenital anomalies becomes evident when one takes into consideration the fact that they cause the death of approximately one quarter of the human race either before or shortly after birth, and handicap an appreciable proportion of the survivors throughout their lives. Further, a significant percentage of infants judged to be normal at birth are found in later life to suffer from "disguised" anomalies of the skeleton and soft tissues. Though the study of genetic factors leading to congenital defects has attracted a great deal of attention during the last few decades, the importance of environmental causes of human malformations has received relatively less emphasis. The association of congenital anomalies such as cataract and cardiac septal defects with maternal intercurrent infection of rubella during the early months of pregnancy demonstrates clearly that changes in the germplasm cannot always be invoked as the cause of developmental abnormalities. Congenital malformations that are sometimes genetically determined, such as microphthalmos, cleft palate, and certain skeletal abnormalities, can be caused in the offspring not only by maternal nutritional
The aim of this study was to describe temporal trends and survivorship of total hip arthroplasty (THA) in very young patients, aged ≤ 20 years. A descriptive observational study was undertaken using data from the National Joint Registry (NJR) for England, Wales, Northern Ireland and the Isle of Man between April 2003 and March 2017. All patients aged ≤ 20 years at the time of THA were included and the primary outcome was revision surgery. Descriptive statistics were used to summarize the data and Kaplan–Meier estimates calculated for the cumulative implant survival.Aims
Patients and Methods
Many case reports and small studies have suggested that cobalt
ions are a potential cause of cardiac complications, specifically
cardiomyopathy, after metal-on-metal (MoM) total hip arthroplasty
(THA). The impact of metal ions on the incidence of cardiac disease
after MoM THA has not been evaluated in large studies. The aim of
this study was to compare the rate of onset of new cardiac symptoms
in patients who have undergone MoM THA with those who have undergone
metal-on-polyethylene (MoP) THA. Data were extracted from the Standard Analytics Files database
for patients who underwent MoM THA between 2005 and 2012. Bearing
surface was selected using International Classification of Diseases
ninth revision codes. Patients with a minimum five-year follow-up
were selected. An age and gender-matched cohort of patients who underwent
MoP THA served as a comparison group. New diagnoses of cardiac disease
were collected during the follow-up period. Comorbidities and demographics
were identified and routine descriptive statistics were used.Aims
Patients and Methods
Total ankle arthroplasty (TAA) surgery is complex and attracts a wide variety of complications. The literature lacks consistency in reporting adverse events and complications. The aim of this article is to provide a comprehensive analysis of each of these complications from a literature review, and to compare them with rates from our Unit, to aid clinicians with the process of informed consent. A total of 278 consecutive total ankle arthroplasties (251 patients), performed by four surgeons over a six-year period in Wrightington Hospital (Wigan, United Kingdom) were prospectively reviewed. There were 143 men and 108 women with a mean age of 64 years (41 to 86). The data were recorded on each follow-up visit. Any complications either during initial hospital stay or subsequently reported on follow-ups were recorded, investigated, monitored, and treated as warranted. Literature search included the studies reporting the outcomes and complications of TAA implants.Aims
Patients and Methods
It may not be possible to undertake revision total hip arthroplasty
(THA) in the presence of massive loss of acetabular bone stock using
standard cementless hemispherical acetabular components and metal
augments, as satisfactory stability cannot always be achieved. We
aimed to study the outcome using a reconstruction cage and a porous
metal augment in these patients. A total of 22 acetabular revisions in 19 patients were performed
using a combination of a reconstruction cage and porous metal augments.
The augments were used in place of structural allografts. The mean
age of the patients at the time of surgery was 70 years (27 to 85)
and the mean follow-up was 39 months (27 to 58). The mean number
of previous THAs was 1.9 (1 to 3). All patients had segmental defects
involving more than 50% of the acetabulum and seven hips had an
associated pelvic discontinuity. Aims
Patients and Methods
Using 90% of final height as a benchmark, we sought to develop
a quick, quantitative and reproducible method of estimating skeletal
maturity based on topographical changes in the distal femoral physis. Serial radiographs of the distal femoral physis three years prior
to, during, and two years following the chronological age associated
with 90% of final height were analyzed in 81 healthy children. The
distance from the tip of the central peak of the distal femoral
physis to a line drawn across the physis was normalized to the physeal width.Aims
Patients and Methods
The aim of this study was to report the mid-term clinical outcome
of cemented unlinked J-alumina ceramic elbow (JACE) arthroplasties
when used in patients with rheumatoid arthritis (RA). We retrospectively reviewed 87 elbows, in 75 patients with RA,
which was replaced using a cemented JACE total elbow arthroplasty
(TEA) between August 2003 and December 2012, with a follow-up of
96%. There were 72 women and three men, with a mean age of 62 years
(35 to 79). The mean follow-up was nine years (2 to 14). The clinical condition
of each elbow before and after surgery was assessed using the Mayo
Elbow Performance Index (MEPI, 0 to 100 points). Radiographic loosening
was defined as a progressive radiolucent line of >1 mm that was
completely circumferential around the prosthesis.Aims
Patients and Methods
To present our experience of using a combination of intra-articular
osteotomy and external fixation to treat different deformities of
the knee. A total of six patients with a mean age of 26.5 years (15 to
50) with an abnormal hemi-joint line convergence angle (HJLCA) and
mechanical axis deviation (MAD) were included. Elevation of a tibial
hemiplateau or femoral condylar advancement was performed and limb
lengthening with correction of residual deformity using a circular
or monolateral Ilizarov frame.Aims
Patients and Methods
Several genome-wide association studies (GWAS) of bone mineral density (BMD) have successfully identified multiple susceptibility genes, yet isolated susceptibility genes are often difficult to interpret biologically. The aim of this study was to unravel the genetic background of BMD at pathway level, by integrating BMD GWAS data with genome-wide expression quantitative trait loci (eQTLs) and methylation quantitative trait loci (meQTLs) data We employed the GWAS datasets of BMD from the Genetic Factors for Osteoporosis Consortium (GEFOS), analysing patients’ BMD. The areas studied included 32 735 femoral necks, 28 498 lumbar spines, and 8143 forearms. Genome-wide eQTLs (containing 923 021 eQTLs) and meQTLs (containing 683 152 unique methylation sites with local meQTLs) data sets were collected from recently published studies. Gene scores were first calculated by summary data-based Mendelian randomisation (SMR) software and meQTL-aligned GWAS results. Gene set enrichment analysis (GSEA) was then applied to identify BMD-associated gene sets with a predefined significance level of 0.05.Objectives
Method
This review summarises the technique of impaction
grafting with mesh augmentation for the treatment of uncontained
acetabular defects in revision hip arthroplasty. The ideal acetabular revision should restore bone stock, use
a small socket in the near-anatomic position, and provide durable
fixation. Impaction bone grafting, which has been in use for over
40 years, offers the ability to achieve these goals in uncontained
defects. The precepts of modern, revision impaction grafting are
that the segmental or cavitary defects must be supported with a
mesh; the contained cavity is filled with vigorously impacted morselised
fresh-frozen allograft; and finally, acrylic cement is used to stabilise
the graft and provide rigid, long-lasting fixation of the revised
acetabular component. Favourable results have been published with this technique. While
having its limitations, it is a viable option to address large acetabular
defects in revision arthroplasty. Cite this article:
Osteoarthritis (OA) is caused by complex interactions between genetic and environmental factors. Epigenetic mechanisms control the expression of genes and are likely to regulate the OA transcriptome. We performed integrative genomic analyses to define methylation-gene expression relationships in osteoarthritic cartilage. Genome-wide DNA methylation profiling of articular cartilage from five patients with OA of the knee and five healthy controls was conducted using the Illumina Infinium HumanMethylation450 BeadChip (Illumina, San Diego, California). Other independent genome-wide mRNA expression profiles of articular cartilage from three patients with OA and three healthy controls were obtained from the Gene Expression Omnibus (GEO) database. Integrative pathway enrichment analysis of DNA methylation and mRNA expression profiles was performed using integrated analysis of cross-platform microarray and pathway software. Gene ontology (GO) analysis was conducted using the Database for Annotation, Visualization and Integrated Discovery (DAVID).Aim
Patients and Methods
Primary (or spontaneous) and secondary osteonecrosis of the knee
can lead to severe joint degeneration, for which either total or
unicompartmental arthroplasty may be considered. However, there
are limited studies analyzing outcomes of unicompartmental knee arthroplasties
(UKAs) for osteonecrosis involving an isolated compartment of the
knee. The aims of this study were to analyze outcomes of UKAs for
osteonecrosis with specific focus on 1) survivorship free of any
revision or reoperation, 2) risk factors for failure, 3) clinical outcomes,
and 4) complications. A total of 45 patients underwent 46 UKAs for knee osteonecrosis
between 2002 and 2014 at our institution (The Mayo Clinic, Rochester,
Minnesota). Twenty patients (44%) were female; the mean age of the
patients was 66 years, and mean body mass index (BMI) was 31 kg/m2. Of
the 46 UKAs, 44 (96%) were medial UKAs, and 35 (76%) were fixed-bearing
design. Mean mechanical axis postoperatively was 1.5° varus (0°
to 5° varus); 41 UKAs (89%) were performed for primary osteonecrosis.
Mean follow-up was five years (2 to 12)Aims
Patients and Methods
The aims of this study were to investigate any possible relationship
between a preoperative sensitivity to pain and the degree of pain
at rest and on exertion with postoperative function in patients
who underwent stemless total shoulder arthroplasty (TSA). In this prospective study, we included 63 patients who underwent
stemless TSA and were available for evaluation one year postoperatively.
There were 31 women and 32 men; their mean age was 71 years (53
to 89). The pain threshold, which was measured using a Pain Matcher
(PM) unit, the degree of pain (visual analogue scale at rest and
on exertion, and function using the short version of the Disabilities
of the Arm, Shoulder and Hand questionnaire (QuickDASH), were recorded
preoperatively, as well as three and 12 months postoperatively.Aims
Patients and Methods
The mucopolysaccharidoses (MPS) are a group of
inherited lysosomal storage disorders with clinical manifestations relevant
to the orthopaedic surgeon. Our aim was to review the recent advances
in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising
orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include
the recognition of slowly progressive, late presenting subtypes,
developments in life-prolonging systemic treatment and potentially
new indications for surgical treatment. The outcomes of surgery
in these patients are not yet validated and some procedures have
a high rate of complications which differ from those in patients
who do not have a MPS. The diagnosis of a MPS should be considered in adolescents or
young adults with a previously unrecognised dysplasia of the hip.
Surgeons treating patients with a MPS should report their experience
and studies should include the assessment of function and quality
of life to guide treatment. Cite this article:
Ubiquitin E3 ligase-mediated protein degradation regulates osteoblast function. Itch, an E3 ligase, affects numerous cell functions by regulating ubiquitination and proteasomal degradation of related proteins. However, the Itch-related cellular and molecular mechanisms by which osteoblast differentiation and function are elevated during bone fracture repair are as yet unknown. We examined the expression levels of E3 ligases and NF-κB members in callus samples during bone fracture repair by quantitative polymerase chain reaction (qPCR) and the total amount of ubiquitinated proteins by Western blot analysis in wild-type (WT) mice. The expression levels of osteoblast-associated genes in fracture callus from Itch knockout (KO) mice and their WT littermates were examined by qPCR. The effect of NF-κB on Itch expression in C2C12 osteoblast cells was determined by a chromatin immunoprecipitation (ChIP) assay.Objectives
Methods
