Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.

Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools.

Cross-cultural adaptation and validation of the Ankle Osteoarthritis Scale for use in French-speaking populations.

BACKGROUND: The Ankle Osteoarthritis Scale (AOS) is a self-administered score specific for ankle osteoarthritis (OA) with excellent reliability and strong construct and criterion validity. Many recent randomized multicentre trials have used the AOS, and the involvement of the French-speaking population is limited by the absence of a French version. Our goal was to develop a French version and validate the psychometric properties to assure equivalence to the original English version. METHODS: Translation was performed according to American Association of Orthopaedic Surgeons (AAOS) 2000 guidelines for cross-cultural adaptation. Similar to the validation process of the English AOS, we evaluated the psychometric properties of the French version (AOS-Fr): criterion validity (AOS-Fr v. Western Ontario and McMaster Universities Arthritis Index [WOMAC] and SF-36 scores), construct validity (AOS-Fr correlation to single heel-lift test), and reliability (AOS-Fr test-retest). Sixty healthy individuals tested a prefinal version of the AOS-Fr for comprehension, leading to modifications and a final version that was approved by C. Saltzman, author of the AOS. We then recruited patients with ankle OA for evaluation of the AOS-Fr psychometric properties. RESULTS: Twenty-eight patients with ankle OA participated in the evaluation. The AOS-Fr showed strong criterion validity (AOS:WOMAC r = 0.709 and AOS:SF-36 r = -0.654) and construct validity (r = 0.664) and proved to be reliable (test-retest intraclass correlation coefficient = 0.922). CONCLUSION: The AOS-Fr is a reliable and valid score equivalent to the English version in terms of psychometric properties, thus is available for use in multicentre trials.

CONTEXTE: L'Ankle Osteoarthritis Scale (AOS) est une échelle d'auto-évaluation de l'arthrose de la cheville très fiable, et dont la validité conceptuelle et critérielle est élevée. De nombreux essais multicentriques randomisés récents ont utilisé l'AOS, mais faute d'une version française, la participation de la population francophone est limitée. Notre objectif était donc de créer une version française et d'en valider les propriétés psychométriques pour veiller à ce qu'elle soit équivalente à la version anglaise originale. MÉTHODES: La traduction a été effectuée conformément aux lignes directrices de 2000 de l'American Association of Orthopaedic Surgeons (AAOS) en matière d'adaptation interculturelle. Comme ce fut le cas pour le processus de validation de l'échelle anglaise, nous avons évalué les propriétés psychométriques de la version française (AOS-Fr) : validité critérielle (AOS-Fr contre le Western Ontario and McMaster Universities Arthritis Index [WOMAC] et les scores du questionnaire SF-36), validité conceptuelle (corrélation de l'AOS-Fr au test d'élévation sur la pointe d'un seul pied) et fiabilité (test­ retest de l'AOS-Fr). Soixante personnes en santé ont fait l'essai d'une version préfinale de l'AOS-Fr pour en évaluer l'intelligibilité, ce qui a entraîné des modifications, et la version définitive a été approuvée par C. Saltzman, auteur de l'AOS. Nous avons ensuite recruté des patients atteints d'arthrose de la cheville pour évaluer les propriétés psychométriques de l'AOS-Fr. RÉSULTATS: Vingt-huit patients atteints d'arthrose à la cheville ont participé à l'évaluation. Une forte validité critérielle (AOS:WOMAC : r = 0,709 et AOS:SF-36 : r = ­0,654) et conceptuelle (r = 0,664) a été mise en évidence, et l'échelle s'est avérée fiable (coefficient de corrélation intraclasse = 0,922 pour le test­retest). CONCLUSION: L'AOS-Fr est une échelle fiable et valide équivalente à la version anglaise sur le plan des propriétés psychométriques; elle peut donc être utilisée pour les essais multicentriques.

Button fixation technique for Achilles tendon reinsertion: a biomechanical study.

Chronic insertional tendinopathy of the Achilles tendon is a frequent and disabling pathologic entity. Operative treatment is indicated for patients for whom nonoperative management has failed. The treatment can consist of the complete detachment of the tendon insertion and extensive debridement. We biomechanically tested a new operative technique that uses buttons for fixation of the Achilles tendon insertion on the posterior calcaneal tuberosity and compared it with 2 standard bone anchor techniques. A total of 40 fresh-frozen cadaver specimens were used to compare 3 fixation techniques for reinserting the Achilles tendon: single row anchors, double row anchors, and buttons. The ultimate loads and failure mechanisms were recorded. The button assembly (median load 764 N, range 713 to 888) yielded a median fixation strength equal to 202% (range 137% to 251%) of that obtained with the double row anchors (median load 412 N, range 301 to 571) and 255% (range 213% to 317%) of that obtained with the single row anchors (median load 338 N, range 241 to 433N). The most common failure mechanisms were suture breakage with the buttons (55%) and pull out of the implant with the double row (70%) and single row (85%) anchors. The results of the present biomechanical cadaver study have shown that Achilles tendon reinsertion fixation using the button technique provides superior pull out strength than the bone anchors tested.

Evidence-based indications for ankle arthroscopy.

PURPOSE: The purpose of this study was to review the literature to provide a comprehensive description of the Level of Evidence available to support the surgical technique of ankle arthroscopy for the current generally accepted indications and assign a grade of recommendation for each of them. METHODS: A comprehensive review of the literature was performed (in August 2008) by use of the PubMed database. The abstracts from these searches were reviewed to isolate literature that described therapeutic studies investigating the results of different ankle arthroscopic treatment techniques. All articles were reviewed and assigned a classification (I-IV) of Level of Evidence. An analysis of the literature reviewed was used to assign a grade of recommendation for each current generally accepted indication for ankle arthroscopy. RESULTS: There exists fair evidence-based literature (grade B) to support a recommendation for the use of ankle arthroscopy for the treatment of ankle impingement and osteochondral lesions and for ankle arthrodesis. Ankle arthroscopy for ankle instability, septic arthritis, arthrofibrosis, and removal of loose bodies is supported with only poor-quality evidence (grade C). Treatment of ankle arthritis, excluding isolated bony impingement, is not effective and therefore this indication is not recommended (grade C against). Finally, there is insufficient evidence-based literature to support or refute the benefit of arthroscopy for the management of synovitis and fractures (grade I). CONCLUSIONS: There exists adequate evidence-based literature to support the surgical technique of ankle arthroscopy for most current generally accepted indications; however, further studies in this area are needed. LEVEL OF EVIDENCE: Level IV, systematic review.