34 research outputs found

    Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

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    Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. Variant annotation was supported by software resources provided via the Caché Campus program of the InterSystems GmbH to Alexander Teumer

    Open and Arthroscopic Surgical Treatment of Femoroacetabular Impingement

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    Femoroacetabular impingement (FAI) is a common cause of hip pain, and when indicated, can be successfully managed through open surgery or hip arthroscopy. The goal of this review is to describe the different approaches to the surgical treatment of FAI. We present the indications, surgical technique, rehabilitation, and complications associated with (1) open hip dislocation, (2) reverse peri-acetabular osteotomy, (3) the direct anterior mini-open approach, and (4) arthroscopic surgery for femoroacetabular impingement

    The Natural History of Femoroacetabular Impingement

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    Femoroacetabular impingement (FAI) is a clinical syndrome resulting from abnormal hip joint morphology and is a common cause of hip pain in young adults. FAI has been posited as a precursor to hip osteoarthritis, however, conflicting evidence exists and the true natural history of the disease is unclear. The purpose of this article is to review the current understanding of how FAI damages the hip joint by highlighting its pathomechanics and etiology. We then review the current evidence relating FAI to osteoarthritis. Lastly, we will discuss the potential of hip preservation surgery to alter the natural history of FAI, reduce the risk of developing osteoarthritis and the need for future arthroplasty

    Fifty Most Cited Articles for Femoroacetabular Impingement and Hip Arthroscopy

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    Growing awareness of femoroacetabular impingement (FAI) and recent innovations in management has resulted in hip arthroscopy becoming one of the fastest-growing orthopaedic subspecialties. The purpose of this study was to identify the 50 most cited articles related to the topic of FAI and hip arthroscopy and to analyze their characteristics.The overall number of citations within these articles ranged from 99 to 820. Citation density ranged from 4.41 to 74.55. Seven countries produced these articles with the majority attributed to the United States (n=26) and Switzerland (n=18). Clinical studies made up more than half of the top articles (n=27). The JBJS level of evidence most commonly encountered was level IV (n=24) while the remaining articles were level III (n=3). No randomized controlled trials or non-randomized controlled trials were encountered in this search. The level of evidence was not significantly correlated with the overall number of citations, publication year, or citation density. The current top 50 list provides orthopaedic surgeons interested in hip arthroscopy with anup-to-date core list of the most cited articles in the scientific literature and represents a foundation to use to develop their knowledge regarding hip arthroscopy and FAI

    A Comparison of Clinical Outcomes After Unilateral or Bilateral Hip Arthroscopic Surgery: Age- and Sex-Matched Cohort Study.

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    BACKGROUND: A significant number of patients undergoing hip arthroscopic surgery for femoroacetabular impingement (FAI) have bilateral deformities and may require surgery for both hips. PURPOSE: To compare outcomes between patients who underwent bilateral hip arthroscopic surgery to a matched cohort of patients who underwent unilateral hip arthroscopic surgery. STUDY DESIGN: Cohort study; Level of evidence, 3. METHODS: A consecutive series of patients who underwent primary hip arthroscopic surgery for FAI by a single fellowship-trained surgeon from January 2012 to January 2014 and had a minimum follow-up of 2 years were evaluated. Patients who underwent staged bilateral hip arthroscopic surgery were identified and matched 1:2 to patients who underwent unilateral hip arthroscopic surgery based on age, sex, and body mass index (BMI). Demographic, preoperative, and postoperative variables were compared between the groups. RESULTS: Forty-three patients in the bilateral group were matched with 86 patients in the unilateral group based on sex (24 female [56%] vs 48 female [56%], respectively; P \u3e .99), age (28.6 ± 10.8 years vs 28.9 ± 10.8 years, respectively; P = .88), and BMI (24.8 ± 5.8 kg/m2 vs 24.8 ± 4.0 kg/m2, respectively; P = .98). There were no significant preoperative demographic or radiographic differences between the groups. Both groups demonstrated significant preoperative to postoperative improvements in the Hip Outcome Score-Activities of Daily Living (HOS-ADL), Hip Outcome Score-Sports Subscale (HOS-SS), and modified Harris Hip Score (mHHS) ( P \u3c .0001 for all). When compared with patients in the unilateral group, patients who underwent bilateral hip arthroscopic surgery had less improvement in mHHS and pain scores. Sixty-five (76%) patients in the unilateral group achieved the minimum clinically important difference (MCID) for the mHHS compared with 21 (49%) in the bilateral group ( P = .03), while 64 (74%) patients achieved the patient acceptable symptomatic state (PASS) for the mHHS compared with 22 (51%) in the bilateral group ( P = .02). Patients in the bilateral group with greater than 10 months between surgical procedures had lower postoperative HOS-ADL scores ( P = .04) and lower improvement in pain and HOS-SS scores ( P \u3c .0001 and P = .05, respectively). CONCLUSION: Patients who underwent unilateral and bilateral hip arthroscopic surgery for FAI had improved functional outcomes after 2 years. However, patients who underwent bilateral hip arthroscopic surgery had less improvement in their mHHS and pain scores compared with those who underwent unilateral hip arthroscopic surgery but no differences in HOS-ADL, HOS-SS, or satisfaction scores. Patients in the bilateral group with longer than 10 months between surgical procedures had lower outcome scores than patients who underwent their second surgical procedure within 10 months of their primary surgery

    Capsular Management in Hip Arthroscopy: An Anatomic, Biomechanical, and Technical Review

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    Hip arthroscopy has become an increasingly utilized surgical technique for the treatment of the young, active patient with hip pain. The clinical outcomes of hip arthroscopy in this patient population have been largely successful; however, there is increasing interest in the contribution of hip capsule in postoperative clinical and functional outcomes. The structure and function of the normal hip capsule will be reviewed. Capsular contributions to hip stability will be discussed in the setting of hip arthroscopy with an emphasis on diagnosis-based considerations. Lastly, clinical outcomes following hip arthroscopy will be discussed as they relate to capsular management

    All-Endoscopic Single-Row Repair of Full-Thickness Gluteus Medius Tears

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    Abductor tendon tears typically develop insidiously in middle-aged women and can lead to debilitating lateral hip pain and a Trendelenburg limp. The gluteus medius tendon is most commonly torn and may show fatty degeneration over time, similar to the rotator cuff muscles of the shoulder. Endoscopic repair offers a therapeutic alternative to traditional open techniques. This article describes the workup, examination, and endoscopic repair of a full-thickness gluteus medius tear presenting as lateral hip pain and weakness. The surgical repair for this case used a single-row suture anchor technique. In addition, the indications and technique for a double-row repair will be discussed
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