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Wilson's disease is a disorder of copper metabolism. The gene for Wilson's disease is especially common, and about 1 in 90 of all people carry this gene. Wilson's disease is recessive: the disease results when an individual inherits one of the disease genes from each of his or her parents. The gene for Wilson's disease is located on chromosome 13. Using the techniques of molecular biology, it is now possible to locate the gene within the chromosome with great precision. In the past, researchers could identify the location of a gene only when nearby genetic markers were available for correlation. Now it is possible to use DNA fragments to examine regions of chromosomes where classic markers are few and far between. Studying 52 families affected by Wilson's disease in North America, Europe, and the Middle East, it was possible to determine that the most likely location for the Wilson's disease gene was between two DNA markers on the long arm of chromosome 13, near q14. A larger number of families will have to be studied before the definitive assignment can be made. A clinically important result of this finding is that it may be possible to determine the likelihood of Wilson's disease in children who have not yet begun to develop symptoms. It should be emphasized that a true screening test has not been accomplished, but rather that the odds for a particular child in a family with a history of Wilson's disease may be calculated. For some genetic disorders, such a determination may be of only academic interest. But Wilson's disease may be treated with penicillamine, which binds excess copper that has accumulated and helps the body eliminate it. Therefore, the identification of children with the disorder prior to the development of symptoms may result in the early initiation of treatment with improved results. (Consumer Summary produced by Reliance Medical Information, Inc.)

Purpose: The purpose of the European consensus was to provide recommendations for the treatment of patients with a painful degenerative varus knee using a joint preservation approach. Part II focused on surgery, rehabilitation and complications after tibial or femoral correction osteotomy., Methods: Ninety-four orthopaedic surgeons from 24 countries across Europe were involved in the consensus, which focused on osteotomies around the knee. The consensus was performed according to the European Society for Sports Traumatology, Knee Surgery and Arthroscopy consensus methodology. The steering group designed the questions and prepared the statements based on the experience of the experts and the evidence of the literature. The statements were evaluated by the ratings of the peer-review groups before a final consensus was released., Results: The ideal hinge position for medial opening wedge high tibial osteotomy (MOW HTO) should be at the upper level of the proximal tibiofibular joint, and for lateral closing wedge distal femoral osteotomy (LCW DFO) just above the medial femoral condyle. Hinge protection is not mandatory. Biplanar osteotomy cuts provide more stability and quicker bony union for both MOW HTO and LCW DFO and are especially recommended for the latter. Osteotomy gap filling is not mandatory, unless structural augmentation for stability is required. Patient-specific instrumentation should be reserved for complex cases by experienced hands. Early full weight-bearing can be adopted after osteotomy, regardless of the technique. However, extra caution should be exercised in DFO patients. Osteotomy patients should return to sports within 6 months., Conclusion: Clear recommendations for surgical strategy, rehabilitation and complications of knee osteotomies for the painful degenerative varus knee were demonstrated. In Part 2 of the consensus, high levels of agreement were reached by experts throughout Europe, under variable working conditions. Where science is limited, the collated expertise of the collaborators aimed at providing guidance for orthopaedic surgeons developing an interest in the field and highlighting areas for potential future research., Level of Evidence: Level II, consensus., (© 2024 The Author(s). Knee Surgery, Sports Traumatology, Arthroscopy published by John Wiley & Sons Ltd on behalf of European Society of Sports Traumatology, Knee Surgery and Arthroscopy.)

Purpose: The European consensus was designed with the objective of combining science and expertise to produce recommendations that would educate and provide guidance in the treatment of the painful degenerative varus knee. Part I focused on indications and planning., Methods: Ninety-four orthopaedic surgeons from 24 European countries were involved in the consensus, which focused on the most common indications for osteotomy around the knee. The consensus was performed according to an established ESSKA methodology. The questions and recommendations made were initially designed by the consensus steering group. And 'best possible' answers were provided based upon the scientific evidence available and the experience of the experts. The statements produced were further evaluated by ratings and peer review groups before a final consensus was reached., Results: There is no reliable evidence to exclude patients based on age, gender or body weight. An individualised approach is advised; however, cessation of smoking is recommended. The same applies to lesser degrees of patellofemoral and lateral compartment arthritis, which may be accepted in certain situations. Good-quality limb alignment and knee radiographs are a mandatory requirement for planning of osteotomies, and Paley's angles and normal ranges are recommended when undertaking deformity analysis. Emphasis is placed upon the correct level at which correction of varus malalignment is performed, which may involve double-level osteotomy. This includes recognition of the importance of individual bone morphology and the maintenance of a physiologically appropriate joint line orientation., Conclusion: The indications of knee osteotomies for painful degenerative varus knees are broad. Part I of the consensus highlights the versatility of the procedure to address multiple scenarios with bespoke planning for each case. Deformity analysis is mandatory for defining the bone morphology, the site of the deformity and planning the correct procedure., Level of Evidence: Level II, consensus., (© 2024 The Authors. Knee Surgery, Sports Traumatology, Arthroscopy published by John Wiley & Sons Ltd on behalf of European Society of Sports Traumatology, Knee Surgery and Arthroscopy.)

Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafness were studied in 10 related sibships. DNA samples from 59 individuals including parents and affected and nonaffected sibs were typed for markers on chromosomes 1q and 11q for which linkage has recently been established for Usher syndrome types II and I. Statistically significant linkage was observed with four markers on 11q (D11S533, D11S527, OMP, and INT2) with a maximum six-point location score of 11.61 at the D11S533 locus. Analysis of haplotypes supports the notion that the mutation arose only once in an ancestral chromosome carrying a specific haplotype. The availability of markers closely linked to the disease locus allows indirect genotype analysis and identifies all carriers of the gene within the community. Furthermore, the detection of complete linkage disequilibrium between the D11S533 marker and the Usher gene suggests that these loci are either identical or adjacent and narrows the critical region to which physical mapping efforts are currently directed.