scholarly journals Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty

2021 ◽  
Vol 2 (12) ◽  
pp. 1062-1066
Author(s):  
Elisha Krasin ◽  
Aviram Gold ◽  
Samuel Morgan ◽  
Yaniv Warschawski
Keyword(s):  
Knee Arthroplasty ◽  
Genetic Disorder ◽  
Transferrin Saturation ◽  
Joint Disease ◽  
Hfe Gene ◽  
Serum Transferrin ◽  
Level Of Evidence ◽  
Predictive Values ◽  
Hereditary Haemochromatosis ◽  
Male Cohort

Aims Hereditary haemochromatosis is a genetic disorder that is caused by several known mutations in the human homeostatic iron regulator protein ( HFE) gene. Abnormal accumulation of iron causes a joint disease that resembles osteoarthritis (OA), but appears at a relatively younger age and is accompanied by cirrhosis, diabetes, and injury to other organs. Increased serum transferrin saturation and ferritin levels are known markers of haemochromatosis with high positive predictive values. Methods We have retrospectively analyzed the iron studies of a cohort of 2,035 patients undergoing knee joint arthroplasty due to OA. Results No patients had HFE gene C282Y, S65C, or H63D mutations testing. In total, 18 patients (2.96%) of the male cohort and 51 (3.58%) of the female cohort had pathologically increased ferritin levels that may be indicative of haemochromatosis. Seven patients (0.34%) had serum transferrin saturation above 45%. Conclusion The awareness for the diagnosis of this disorder in Orthopaedics is low and needs improvement. Osteoarthritic patients undergoing knee arthroplasty should be routinely screened for haemochromatosis by iron studies and referred to genetic testing when needed. Level of evidence: Level III - Retrospective cohort study. Cite this article: Bone Jt Open 2021;2(12):1062–1066.

A short report: reflective testing in the diagnosis of hereditary haemochromatosis: results of a short retrospective study

2019 ◽  
Vol 56 (3) ◽  
pp. 408-410 ◽  
Author(s):  
Katie Malton ◽  
Daniel Turnock
Keyword(s):  
Transferrin Saturation ◽  
Gene Mutations ◽  
Teaching Hospitals ◽  
Diagnostic Process ◽  
Hfe Gene ◽  
Short Report ◽  
Hereditary Haemochromatosis ◽  
Laboratory Staff ◽  
Number Of Patients ◽  
Hfe Gene Mutations

Background Reflective addition of iron studies to elevated ferritin results can be a useful first step towards making a diagnosis of haemochromatosis; however, the criteria for doing so are poorly defined and the efficiency of different stages of this process are not well documented. We studied the efficiency of current practice at York Teaching Hospitals NHS Foundation Trust with the aim to identify areas for improvement. Methods Data were gathered from the laboratory database on the number of iron studies and subsequent interpretive comments reflectively added by laboratory staff during an eight-month period. Reflective addition of iron was based on individual practice of the reporter. Standardised interpretive comments were added to suggest HFE genotyping when both the ferritin and transferrin saturation were raised. The number of patients successfully followed up and found to have pathological HFE gene mutations was used to evaluate efficiency. Results A total of 2651 raised ferritin results were reported during the evaluation period, which resulted in the reflective addition of 381 iron studies and 43 interpretive comments by the duty biochemists. This led to 33 requests for HFE genotyping and the identification of 13 individuals with pathological mutations. The number of iron studies reflectively added to diagnose one patient (NND) was found to be 29.3. Conclusions Reflective addition of iron studies and interpretive comments can assist in the early detection of patients with hereditary haemochromatosis. Better guidance for laboratory staff undertaking reflective testing and for general practitioners facilitating patient follow-up may increase the efficiency of this diagnostic process.

Hereditary Haemochromatosis in Two Cousins with Cluster Headache

Cephalalgia ◽  
2002 ◽  
Vol 22 (4) ◽  
pp. 317-319 ◽  
Author(s):  
LJ Stovner ◽  
K Hagen ◽  
A Waage ◽  
KS Bjerve
Keyword(s):  
Cluster Headache ◽  
Serum Ferritin ◽  
Causal Relation ◽  
Transferrin Saturation ◽  
Headache Disorder ◽  
Normal Serum ◽  
Hfe Gene ◽  
Compound Heterozygous ◽  
Hereditary Haemochromatosis ◽  
Iron Stores

A 60-year-old woman with secondary chronic cluster headache had increased serum ferritin and serum transferrin saturation and was homozygous for the C282Y mutation in the HFE gene, which is indicative of hereditary haemochromatosis. Treatment with venesection that normalized her iron stores led to a radical improvement of her headache complaints that had been daily for several years. Later, the headache returned to some degree in spite of normal serum ferritin levels. Her cousin, a 33-year-old man who had had episodic cluster headache for several years, also had increased transferrin saturation and was compound heterozygous for two mutations, a genotype known to be associated with a slightly increased frequency of haemochromatosis. This is the first report of a headache disorder in a patient with hereditary haemochromatosis. The coexistence of the two disorders may be a mere coincidence, but the temporary improvement of headache from depletion of iron stores may indicate a causal relation, possibly mediated by iron deposits in pain-modulating centres in the brainstem.

scholarly journals Over-constrained kinematic of the medial compartment leads to lower clinical outcomes after total knee arthroplasty

2021 ◽  
Author(s):  
Nicola Pizza ◽  
Stefano Di Paolo ◽  
Raffaele Zinno ◽  
Giulio Maria Marcheggiani Muccioli ◽  
Piero Agostinone ◽  
...  
Keyword(s):  
Total Knee Arthroplasty ◽  
Clinical Outcomes ◽  
Knee Arthroplasty ◽  
Motor Task ◽  
Medial Compartment ◽  
Level Of Evidence ◽  
Contact Points ◽  
Sit To Stand ◽  
Medial Pivot ◽  
Total Knee

Abstract Purpose To investigate if postoperative clinical outcomes correlate with specific kinematic patterns after total knee arthroplasty (TKA) surgery. The hypothesis was that the group of patients with higher clinical outcomes would have shown postoperative medial pivot kinematics, while the group of patients with lower clinical outcomes would have not. Methods 52 patients undergoing TKA surgery were prospectively evaluated at least a year of follow-up (13.5 ± 6.8 months) through clinical and functional Knee Society Score (KSS), and kinematically through dynamic radiostereometric analysis (RSA) during a sit-to-stand motor task. Patients received posterior-stabilized TKA design. Based on the result of the KSS, patients were divided into two groups: “KSS > 70 group”, patients with a good-to-excellent score (93.1 ± 6.8 points, n = 44); “KSS < 70 group”, patients with a fair-to-poor score (53.3 ± 18.3 points, n = 8). The anteroposterior (AP) low point (lowest femorotibial contact points) translation of medial and lateral femoral compartments was compared through Student’s t test (p < 0.05). Results Low point AP translation of the medial compartment was significantly lower (p < 0.05) than the lateral one in both the KSS > 70 (6.1 mm ± 4.4 mm vs 10.7 mm ± 4.6 mm) and the KSS < 70 groups (2.7 mm ± 3.5 mm vs 11.0 mm ± 5.6 mm). Furthermore, the AP translation of the lateral femoral compartment was not significantly different (p > 0.05) between the two groups, while the AP translation of the medial femoral compartment was significantly higher for the KSS > 70 group (p = 0.0442). Conclusion In the group of patients with a postoperative KSS < 70, the medial compartment translation was almost one-fourth of the lateral one. Surgeons should be aware that an over-constrained kinematic of the medial compartment might lead to lower clinical outcomes. Level of evidence II.

scholarly journals Significant increase in quantity and quality of knee arthroplasty related research in KSSTA over the past 15 years

2021 ◽  
Author(s):  
Stephanie Kirschbaum ◽  
Thilo Kakzhad ◽  
Fabian Granrath ◽  
Andrzej Jasina ◽  
Jakub Oronowicz ◽  
...  
Keyword(s):  
Knee Arthroplasty ◽  
Special Topic ◽  
Computer Assisted ◽  
Time Interval ◽  
Search Term ◽  
Level Of Evidence ◽  
The Past ◽  
Patient Reported ◽  
Over Time ◽  
Number Of Authors

Abstract Purpose This study aimed to evaluate both publication and authorship characteristics in Knee Surgery, Sports Traumatology, Arthroscopy journal (KSSTA) regarding knee arthroplasty over the past 15 years. Methods PubMed was searched for articles published in KSSTA between January 1, 2006, and December 31st, 2020, utilising the search term ‘knee arthroplasty’. 1288 articles met the inclusion criteria. The articles were evaluated using the following criteria: type of article, type of study, main topic and special topic, use of patient-reported outcome scores, number of references and citations, level of evidence (LOE), number of authors, gender of the first author and continent of origin. Three time intervals were compared: 2006–2010, 2011–2015 and 2016–2020. Results Between 2016 and 2020, publications peaked at 670 articles (52%) compared with 465 (36%) published between 2011 and 2016 and 153 articles (12%) between 2006 and 2010. While percentage of reviews (2006–2010: 0% vs. 2011–2015: 5% vs. 2016–2020: 5%) and meta-analyses (1% vs. 6% vs. 5%) increased, fewer case reports were published (13% vs. 3% vs. 1%) (p < 0.001). Interest in navigation and computer-assisted surgery decreased, whereas interest in perioperative management, robotic and individualized surgery increased over time (p < 0.001). There was an increasing number of references [26 (2–73) vs. 30 (2–158) vs. 31 (1–143), p < 0.001] while number of citations decreased [30 (0–188) vs. 22 (0–264) vs. 6 (0–106), p < 0.001]. LOE showed no significant changes (p = 0.439). The number of authors increased between each time interval (p < 0.001), while the percentage of female authors was comparable between first and last interval (p = 0.252). Europe published significantly fewer articles over time (56% vs. 47% vs. 52%), whereas the number of articles from Asia increased (35% vs. 45% vs. 37%, p = 0.005). Conclusion Increasing interest in the field of knee arthroplasty-related surgery arose within the last 15 years in KSSTA. The investigated topics showed a significant trend towards the latest techniques at each time interval. With rising number of authors, the part of female first authors also increased—but not significantly. Furthermore, publishing characteristics showed an increasing number of publications from Asia and a slightly decreasing number in Europe. Level of evidence IV.

Total Knee Arthroplasty Is Safe in Jehovah's Witness Patients—A 12-Year Perspective

2019 ◽  
Vol 33 (01) ◽  
pp. 034-041 ◽  
Author(s):  
Theodore S. Wolfson ◽  
David Novikov ◽  
Kevin K. Chen ◽  
Kelvin Y. Kim ◽  
Afshin A. Anoushiravani ◽  
...  
Keyword(s):  
Total Knee Arthroplasty ◽  
Postoperative Complications ◽  
Knee Arthroplasty ◽  
Subgroup Analysis ◽  
Blood Management ◽  
Folate Supplementation ◽  
Level Of Evidence ◽  
Significant Difference ◽  
Total Knee

AbstractDespite the evolution of blood management protocols, total knee arthroplasty (TKA) occasionally requires allogeneic blood transfusion. This poses a particular challenge for Jehovah's Witnesses (JW) who believe that the Bible strictly prohibits the use of blood products. The aim of this study was to compare JW and a matched-control cohort of non-JW candidates undergoing TKA to assess the safety using modern blood management protocols. Fifty-five JW patients (63 knees) who underwent TKA at our institution between 2005 and 2017 were matched to 63 non-JW patients (63 knees). Patient demographics, intraoperative details, and postoperative complications including in-hospital complications, revisions, and 90-day readmissions were collected and compared between the groups. Additionally, subgroup analysis was performed comparing JW patients who were administered tranexamic acid (TXA) between the two groups. Baseline demographics did not vary significantly between the study cohorts. The mean follow-up was 3.1 years in both the JW and non-JW cohorts. Postoperative complications, including in-hospital complications (7.9 vs. 4.8%; p = 0.47), revision TKA (1.6 vs. 1.6%; p = 1.00), and 90-day readmission (1.6 vs. 4.8%; p = 0.31) were not significantly different between the JW and non-JW groups. Subgroup analysis demonstrated JW patients who received TXA had a significantly lower decline in postoperative hemoglobin (Hgb) (8.6 vs. 14.0%; p < 0.01). At a follow-up of up to 12 years, JW patients who underwent TKA have outcomes equivalent to non-JW patients without the need for transfusion. Our findings support that surgeons are more likely to optimize JW patients preoperatively with iron and folate supplementation. Despite these variations in preoperative optimization efforts, no significant difference with regard to Hgb or hematocrit levels was demonstrated. Level of evidence is III, retrospective observational study.

scholarly journals Periprosthetic fractures of the knee: a comprehensive review

2019 ◽  
Vol 30 (3) ◽  
pp. 387-399 ◽  
Author(s):  
Vadim Benkovich ◽  
Yuri Klassov ◽  
Boris Mazilis ◽  
Shlomo Bloom
Keyword(s):  
Knee Arthroplasty ◽  
Rare Complication ◽  
Treatment Options ◽  
Degenerative Joint Disease ◽  
Joint Arthroplasty ◽  
Joint Disease ◽  
Periprosthetic Fractures ◽  
Complex Injury ◽  
Life Threatening ◽  
Total Knee

AbstractDemographic changes have resulted in an increase in the number of older patients diagnosed with degenerative joint disease. Developments in the field of joint arthroplasty allow a broader population to improve their lifestyles. An increased demand for knee arthroplasty has led to a rise in operations performed worldwide. Although there has been a constant propagation of technology and an increase in medical staffing at a professional level, many patients still encounter complications. Though rare, these factors may lead to life-threatening scenarios and a devastating effect on the success of the operation. One such rare complication includes periprosthetic fractures around the knee, a complex injury which requires a cautious and experienced approach. In this review, we analyze the prevalence, risk factors and classification, investigation and treatment options for periprosthetic fractures with total knee arthroplasty.

Patellofemoral Arthritis After Lateral Patellar Dislocation: A Matched Population-Based Analysis

2016 ◽  
Vol 45 (5) ◽  
pp. 1012-1017 ◽  
Author(s):  
Thomas L. Sanders ◽  
Ayoosh Pareek ◽  
Nicholas R. Johnson ◽  
Michael J. Stuart ◽  
Diane L. Dahm ◽  
...  
Keyword(s):  
Knee Arthroplasty ◽  
Cumulative Incidence ◽  
Patellar Dislocation ◽  
Trochlear Dysplasia ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Patellofemoral Arthritis ◽  
Level Of Evidence ◽  
Lateral Patellar Dislocation ◽  
Osteochondral Injury

Background: The rate of patellofemoral arthritis after lateral patellar dislocation is unknown. Purpose/Hypothesis: The purpose of this study was to compare the risk of patellofemoral arthritis and knee arthroplasty between patients who experienced a lateral patellar dislocation and matched individuals without a patellar dislocation. Additionally, factors predictive of arthritis after patellar dislocation were examined. The hypothesis was that the rate of arthritis is likely higher among patients who experience a patellar dislocation compared with those who do not. Study Design: Cohort study; Level of evidence, 3. Methods: In this study, 609 patients who had a first-time lateral patellar dislocation between 1990 and 2010 were compared with an age- and sex-matched cohort of patients who did not have a patellar dislocation. Medical records were reviewed to collect information related to the initial injury, recurrent dislocation, treatment, and progression to clinically significant patellofemoral arthritis (defined as symptoms with degenerative changes on patellar sunrise radiographs). Factors associated with arthritis (age, sex, recurrence, osteochondral injury, trochlear dysplasia) were examined. Results: At a mean follow-up of 12.3 ± 6.5 years from initial dislocation, 58 patients (9.5%) in the dislocation cohort were diagnosed with patellofemoral arthritis, corresponding to a cumulative incidence of arthritis of 1.2% at 5 years, 2.7% at 10 years, 8.1% at 15 years, 14.8% at 20 years, and 48.9% at 25 years. In the control cohort, 8 patients (1.3%) were diagnosed with arthritis, corresponding to a cumulative incidence of arthritis of 0% at 5 years, 0% at 10 years, 1.3% at 15 years, 2.9% at 20 years, and 8.3% at 25 years. Therefore, patients who experienced a lateral patellar dislocation had a significantly higher risk of developing arthritis (hazard ratio [HR], 7.8; 95% CI, 3.9-17.6; P < .001) than individuals without a patellar dislocation. However, the risk of knee arthroplasty was similar between groups (HR, 2.8; 95% CI, 0.6-19.7; P = .2). Recurrent patellar dislocations (HR, 4.5; 95% CI, 1.6-12.6), osteochondral injury (HR, 11.3; 95% CI, 5.0-26.6), and trochlear dysplasia (HR, 3.6; 95% CI, 1.3-10.0) were associated with arthritis after patellar dislocation. Conclusion: Patellar dislocation is a significant risk factor for patellofemoral arthritis, as nearly half of patients have symptoms and radiographic changes consistent with arthritis at 25 years after lateral patellar dislocation. Osteochondral injury, recurrent patellar instability, and trochlear dysplasia are associated with the development of arthritis.

scholarly journals Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene

2012 ◽  
Vol 109 (14) ◽  
pp. E851-E859 ◽  
Author(s):  
N. Jahanshad ◽  
O. Kohannim ◽  
D. P. Hibar ◽  
J. L. Stein ◽  
K. L. McMahon ◽  
...  
Keyword(s):  
Brain Structure ◽  
Healthy Adults ◽  
Hfe Gene ◽  
Serum Transferrin

scholarly journals Intra-operative Laxity Following Total Knee Arthroplasty is Highly Variable and Different Than Osteoarthritic and Normal Knees

2020 ◽  
Author(s):  
Robert A. Siston ◽  
Erin E. Hutter ◽  
Joseph A. Ewing ◽  
Rachel K. Hall ◽  
Jeffrey F. Granger ◽  
...  
Keyword(s):  
Total Knee Arthroplasty ◽  
Knee Arthroplasty ◽  
Knee Laxity ◽  
Maximum Load ◽  
Similar Data ◽  
Level Of Evidence ◽  
Large Variability ◽  
Level Ii ◽  
Total Knee ◽  
Manual Manipulation

AbstractBackgroundAchieving a stable joint is an important yet challenging part of total knee arthroplasty (TKA). Neither manual manipulation of the knee nor instrumented sensors biomechanically characterize knee laxity or objectively characterize how TKA changes the laxity of an osteoarthritic (OA) knee. Therefore, the purposes of this study were: 1) objectively characterize changes in knee laxity due to TKA, 2) objectively determine whether TKA resulted in equal amounts of varus-valgus motion under a given load (i.e., balance) and 3) determine how TKA knee laxity and balance differ from values seen in non-osteoarthritic knees.MethodsTwo surgeons used a custom navigation system and intra-operative device to record varus-valgus motion under quantified loads in a cohort of 31 patients (34 knees) undergoing primary TKA. Similar data previously were collected from a cohort of 42 native cadaveric knees.ResultsPerforming a TKA resulted in a “looser knee” on average, but great variability existed within and between surgeons. Under the maximum applied moment, 20 knees were “looser” in the varus-valgus direction, while 14 were “tighter”. Surgeon 1 generally “loosened” knees (OA laxity 6.1°±2.3°, TKA laxity 10.1°±3.6°), while Surgeon 2 did not substantially alter knee laxity (OA laxity 8.2°±2.4°, TKA laxity 7.5°±3.3°). TKA resulted in balanced knees, and, while several differences in laxity were observed between OA, TKA, and cadaveric knees, balance was only different under the maximum load between OA and cadaveric knees.ConclusionsLarge variability exists within and between surgeons suggests in what is considered acceptable laxity and balance of the TKA knee when it is assessed by only manual manipulation of the leg. Knees were “balanced” yet displayed different amounts of motion under applied load.Clinical RelevanceOur results suggest that current assessments of knee laxity may leave different patients with biomechanically different knees. Objective intra-operative measurements should inform surgical technique to ensure consistency across different patients.Level of EvidenceLevel II prospective observational study

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