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Bone & Joint Open
Vol. 2, Issue 6 | Pages 414 - 421
1 Jun 2021
Kim SK Nguyen C Avins AL Abrams GD

Aims

The aim of this study was to screen the entire genome for genetic markers associated with risk for anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL) injury.

Methods

Genome-wide association (GWA) analyses were performed using data from the Kaiser Permanente Research Board (KPRB) and the UK Biobank. ACL and PCL injury cases were identified based on electronic health records from KPRB and the UK Biobank. GWA analyses from both cohorts were tested for ACL and PCL injury using a logistic regression model adjusting for sex, height, weight, age at enrolment, and race/ethnicity using allele counts for single nucleotide polymorphisms (SNPs). The data from the two GWA studies were combined in a meta-analysis. Candidate genes previously reported to show an association with ACL injury in athletes were also tested for association from the meta-analysis data from the KPRB and the UK Biobank GWA studies.


The Bone & Joint Journal
Vol. 102-B, Issue 6 Supple A | Pages 73 - 78
1 Jun 2020
Hamilton WG Gargiulo JM Parks NL

Aims

The purpose of this study was to use pharmacogenetics to determine the frequency of genetic variants in our total knee arthroplasty (TKA) patients that could affect postoperative pain medications. Pharmacogenetic testing evaluates patient DNA to determine if a drug is expected to have a normal clinical effect, heightened effect, or no effect at all on the patient. It also predicts whether patients are likely to experience side effects from medicine. We further sought to determine if changing the multimodal programme based on these results would improve pain control or reduce side effects.

Methods

In this pilot study, buccal samples were collected from 31 primary TKA patients. Pharmacogenetics testing examined genetic variants in genes OPRM1, CYP1A2, CYP2B6, CYP2C19, CYP3A4, CYP2C9, and CYP2D6. These genes affect the pharmacodynamics and pharmacokinetics of non-steroidal anti-inflammatory drugs and opioids. We examined the frequency of genetic variants to any of the medications we prescribed including celecoxib, hydrocodone, and tramadol. Patients were randomized to one of two groups: the control group received the standard postoperative pain regimen, and the study group received a customized regimen based on the pharmacogenetic results. For the first ten postoperative days, patients recorded pain scores, medication, and side effects.


The Bone & Joint Journal
Vol. 98-B, Issue 4 | Pages 483 - 489
1 Apr 2016
Tigchelaar S Rooy JD Hannink G Koëter S van Kampen A Bongers E

Aim

Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations.

Patients and Methods

Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 11 | Pages 1466 - 1471
1 Nov 2009
Ramaswamy R Kosashvili Y Cameron HU Cameron JC

The management of osteoarthritis of the knee associated with patellar instability secondary to external tibial torsion > 45° is challenging. Patellofemoral biomechanics in these patients cannot be achieved by intra-articular correction using standard techniques of total knee replacement.

We reviewed seven patients (eight knees) with recurrent patellar dislocation and one with bilateral irreducible lateral dislocation who had undergone simultaneous total knee replacement and internal tibial derotational osteotomy. All had osteoarthritis and severe external tibial torsion. The mean follow-up was for 47.2 months (24 to 120).

The mean objective and functional Knee Society scores improved significantly (p = 0.0001) from 29.7 and 41.5 pre-operatively to 71.4 and 73.5 post-operatively, respectively. In all patients the osteotomies healed and patellar stability was restored.

Excessive external tibial torsion should be identified and corrected in patients with osteoarthritis and patellar instability. Simultaneous internal rotation osteotomy of the tibia and total knee replacement is a technically demanding but effective treatment for such patients.