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      Legg–Calvé–Perthes disease overview

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          Abstract

          Background

          Legg–Calvé–Perthes Disease (LCPD) is a necrosis of the femoral head which affects the range of motion of the hips. Its incidence is variable, ranging from 0.4/100,000 to 29.0/ 100,000 children. Although LCPD was first described in the beginning of the past century, limited is known about its etiology. Our objective is to describe the main areas of interest in Legg–Calve–Perthes disease.

          Methods

          A review of the literature regarding LCPD etiology was performed, considering the following inclusion criteria: Studies reporting clinical or preclinical results. The research group carried out a filtered search on the PubMed and Science Direct databases. To maximize the suitability of the search results, we combined the terms ‘‘Perthes disease” OR “LCPD” OR “children avascular femoral head necrosis” with “diagnostic” OR “treatment” OR “etiology” as either key words or MeSH terms.

          Results

          In this article been described some areas of interest in LCPD, we include topics such as: history, incidence, pathogenesis, diagnosis, treatment and possible etiology, since LCPD has an unknown etiology.

          Conclusions

          This review suggests that LCPD has a multifactorial etiology where environmental, metabolic and genetic agents could be involved.

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          Most cited references71

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          Guidelines for clinical diagnosis and treatment of osteonecrosis of the femoral head in adults (2019 version)

          Osteonecrosis of the femoral head (ONFH) is a common and refractory disease in orthopaedic clinics. The number of patients with ONFH is increasing worldwide every year. There are an estimated 8.12 million patients with nontraumatic osteonecrosis in China alone. Treatment of nontraumatic osteonecrosis has always been a clinical challenge for orthopaedic surgeons. To further standardize diagnosis and treatment of ONFH, these guidelines provide not only basic diagnosis, treatment, and evaluation systems for ONFH but also expert advice and standards in many aspects, including epidemiology, aetiology, diagnostic criteria, pathological staging, prevention and treatment options, and postoperative rehabilitation. The aetiological factors of ONFH can currently be divided into two major categories: traumatic and nontraumatic; however, the specific pathological mechanism of ONFH is not completely clear. Currently, the staging system of ONFH formulated by the Association Research Circulation Osseous is widely used in clinical practice. Based on the changes in the intraosseous blood supply at different stages, the corresponding nonsurgical and surgical treatments are recommended, and when there are risk factors for possible ONFH, certain preventive measures to avoid the occurrence of osteonecrosis are recommended. These guidelines provide brief classification criteria and treatment regimen for osteonecrosis. Specification of the aetiology, treatment plan based on comprehensive consideration of the different stages of osteonecrosis, hip function, age, and occupation of the patients are important steps in diagnosis and developing treatment strategies. Translational potential of this article New advances in the epidemiology, etiology, pathophysiology, imaging, diagnosis and treatment of ONFH have been renewed in this revision. This guideline can be used for reference by orthopedic professionals and researchers, and for standardized diagnosis and treatment management under the clinical guidance, which is conducive to the prevention, treatment and further research of ONFH, improving the diagnosis and treatment level, making patients' symptoms under good control, and improving their quality of life.
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            Molecular genetics of the COL2A1-related disorders.

            Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear. Significant clinical heterogeneity has been reported in COL2A1-associated type II collagenopathies. In this review, we highlight current knowledge of known mutations in the COL2A1 gene for these disorders, as well as genetic animal models related to the COL2A1 gene, which may help us understand the nature of complex phenotypes and underlying pathogenesis of these conditions.
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              Interobserver and intraobserver reliability of the modified Waldenström classification system for staging of Legg-Calvé-Perthes disease.

              The absence of a reliable classification system for Legg-Calvé-Perthes disease has contributed to difficulty in establishing consistent management strategies and in interpreting outcome studies. The purpose of this study was to assess interobserver and intraobserver reliability of the modified Waldenström classification system among a large and diverse group of pediatric orthopaedic surgeons.
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                Author and article information

                Contributors
                edgarhz1969@yahoo.com.mx
                elbareyesm@gmail.com
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                15 March 2022
                15 March 2022
                2022
                : 17
                : 125
                Affiliations
                [1 ]GRID grid.418275.d, ISNI 0000 0001 2165 8782, Department of Morphology, Escuela Nacional de Ciencias Biológicas, , Instituto Politécnico Nacional, ; Prolongación de Carpio y Plan de Ayala s/n, Col. Santo Tomás, Miguel Hidalgo, C.P. 11340 Mexico City, Mexico
                [2 ]GRID grid.419223.f, ISNI 0000 0004 0633 2911, Genomic Medicine, , Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, ; Mexico City, Mexico
                Author information
                http://orcid.org/0000-0002-4951-6484
                Article
                2275
                10.1186/s13023-022-02275-z
                8922924
                35292045
                0c629c86-61db-4a9b-b167-827a5f6051ce
                © The Author(s) 2022

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                : 15 October 2021
                : 27 February 2022
                Categories
                Review
                Custom metadata
                © The Author(s) 2022

                Infectious disease & Microbiology
                lcpd,diagnosis,treatment,environmental factors,biochemical factors,genetic factors

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