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Objective The objective of this study is to study familial inheritance for Blount disease to create better understanding of the aetiology of Blount disease.Methods After reviewing patient files and conventional roentgenologic imaging, 139 patients with Blount disease were included in this cross-sectional study, of which 102 patients were interviewed. During the interviews, patient characteristics and family history were collected. Blood samples were taken from five patients and three families and a whole exome sequencing was performed.Results Although patients came from all over the country, 90% of the patients belonged to the Akan tribe. A positive family history was found in 63 families (62%), of which, almost two-third had a positive family history in a first-degree family member. In most of the cases (64%), the varus legs resolved over time. In 9%, severe bowing remained ‘just like the patient’. The results of the whole exome sequencing did not show a genetic predisposition.Conclusion This study describes a large group of Blount patients. Because of the high numbers of positive family history and the centralisation of patients in the Akan region, a familial predisposition is suggested. Further genetic research is essential for better understanding of the possible multifactorial aetiology in Blount disease.

Purpose: To assess the interchangeability of various existing answering scales within the subjective part of the Constant–Murley Score (CMS) and to determine the effect of the different answering scales on the inter- and intraobserver reliability. Methods: In this prospective, single-center, cross-sectional trial, patients with shoulder problems were included from June to September 2018. Subjects recruited were 18 years or older, presented various shoulder complaints, e.g., diagnosis of osteoarthritis, subacromial pain syndrome, rotator cuff or biceps tendon problems, or frozen shoulder. An extended version of the CMS was prepared including the same questions multiple times but with varying answer scales. Six versions were made with random order of the questions. The answering scales were a verbal and paper based visual analog scale (VAS), smiley face scale, Numeric Rating Scale (NRS), and categories. Internal consistency of the various CMS, Spearman correlation coefficients, intraobserver, and interobserver agreement was assessed (ICC). Results: In total, 93 patients were included. The total CMS using the paper-based VAS, smiley face score, and NRS were 46.9 ± 19.4, 45.2 ± 18.5, and 45.0 ± 18.7. Correlations of the total scores of the different versions varied from 0.98 to 0.99. CMS-category versus CMS-smiley face score and CMS-category versus CMS-NRS pain were significantly different (P = .02 and P = .01). Good internal consistency (0.76-0.79) and acceptable inter- and intraobserver reliability were found (ICC: 0.89-0.97, 0.98-0.99; P < .001). Conclusions: The different answering scales for the subjective subscales within the CMS for pain, work, and recreational activity were not interchangeable on item level and significantly influenced the total CMS score. Differences were below the smallest detectable change and interpreted as not clinically relevant. Particularly on item level, data from different studies cannot be pooled and compared when different answering scales are being used. The inter- and intraobserver reliability were excellent. Level of Evidence: Level I, prospective cross-sectional study.

Introduction For patients who are diagnosed with lesions of the rotator cuff that present advanced levels of fatty degeneration, arthroscopic repair of the rotator cuff remains controversial. This controversy can be attributed to the frequently reported high failure rate of the tendon fixation and the fact that it remains unclear why repair for these tears results in significant clinical improvement independent of the occurrence of such a re-tear. Recent publications have reported comparable clinical improvements when merely a tenotomy of the long head of the biceps tendon was performed and the rotator cuff tear was left untreated. These observations raise questions on the value of performing the more extensive cuff repairs in degenerative cuff tears. Even more, rehabilitation after an isolated tenotomy is much less cumbersome as compared with rehabilitation after rotator cuff repair and, therefore, might result in improved patient satisfaction. The goal of this trial is to study function and quality-of-life of patients undergoing arthroscopic biceps tenotomy with or without an additional cuff repair and to include an economic evaluation.Methods and analysis This multicentre randomised controlled non-inferiority trial, including an economic evaluation, is designed to compare the short-term and long-term outcome of patients who underwent an arthroscopic tenotomy of the long head of the biceps tendon with or without a cuff repair. We will include 172 patients with stage 2–3 Goutallier fatty infiltration cuff tears and with clinical symptoms of biceps pathology. Primary outcome is the rotator cuff specific quality-of-life (Western Ontario Rotator Cuff index) on the short term (6 months postoperatively). Secondary outcomes are quality-of-life 1, 2 and 5 year postoperatively and function (Constant-Murley score, glenohumeral range of motion), recovery status, pain (visual analogue scale), economic evaluation, satisfaction of treatment on the short-term and long-term and re-tear rate at 6 months determined with an ultrasound.Ethics and dissemination This trial has been approved by the Medical Research Ethics Committees United (MEC-U), Nieuwegein, the Netherlands (NL54313.100.15) and will be performed in accordance with the Declaration of Helsinki with the Medical Research Involving Human Subjects Act (WMO). The results of this study will be reported in peer-reviewed journals and at (inter)national conferences. Furthermore, we will share our findings with the appropriate guideline committees.Trial registration number The Dutch Trial Registry (NL4010).