Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children.
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ABSTRACT:
SUBMITTER: Azarpira MR
PROVIDER: S-EPMC6403418 | biostudies-literature | 2019 Mar-Apr
REPOSITORIES: biostudies-literature
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Association of eNOS 27-bp VNTR, 894G>T and 786T>C polymorphisms with susceptibility to Legg-Calve-Perthes Disease in Iranian children.
Azarpira Mohammad Reza MR Ghilian Mohammad Mahdi MM Sobhan Mohammad Reza MR Mahdinezhad-Yazdi Masoud M Aghili Kazem K Ahrar Hossein H Neamatzadeh Hossein H
Journal of orthopaedics 20190226 2
<h4>Background</h4>The aim of this study was to analyze the association of eNOS polymorphisms with risk of Legg-Calve-Perthes Disease (LCPD).<h4>Methods</h4>The study comprised of 45 LCPD patients and 55 controls. The eNOS polymorphisms were genotyped with PCR and by PCR-RFLP.<h4>Results</h4>The eNOS 894G > T and -786T > C polymorphisms were significantly associated with an increased risk of LCPD. However, there was no significant association between eNOS 27-bp VNTR polymorphism and LCPD risk.<h ...[more]
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Project description:BackgroundLegg-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.MethodsA 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.ResultsIn 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.ConclusionsThis review suggests that LCPD has a multifactorial etiology where environmental, metabolic and genetic agents could be involved.
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Project description:BackgroundLegg-Calvé-Perthes disease (LCPD) is a common public health problem that usually occurs between the ages of 4 and 8 years, but it can occur between the ages of 2 and 15 years. This condition occurs due to the interruption of blood supply to the femoral head. Up to now, different surgical and nonsurgical treatments, including femoral varus osteotomy, innominate osteotomy, pelvic osteotomies, triple osteotomy, Chiari osteotomy, and shelf acetabuloplasty, have been suggested for noncontainable LCPD hips.ObjectiveThe aim of this comprehensive review was to investigate the various surgical techniques used for LCPD.MethodsAn advanced electronic search of the English-language literature was performed from October 8 to 14, 2020. The electronic databases PubMed, MEDLINE, Web of Science, Embase, Ovid, and Google scholar were searched using appropriate search terms. A manual search of references also was performed. After retrieving the studies, duplicates were removed, and the remining studies were screened based on the title, abstract, and full text. The quality of the selected articles was assessed, and the required data were extracted from eligible articles.ResultsA total of 22 studies were included in the review. Based on the results of the reviewed studies, there are three main factors that influence the treatment outcomes in patients with Perthes disease. These factors are onset age, femoral head involvement severity, and treatment method. The disease has a poor prognosis in children over 8 years old, but this group of patients can also benefit from advanced surgical methods. In patients aged less than 6 years, the disease has a generally good prognosis, but in those aged between 6 and 8 years, its prognosis is variable. Thus, the need for surgical intervention requires close observation of signs. Once any head signs are observed, dynamic arthrography is beneficial before choosing the treatment approach.ConclusionsThis review provides clinicians with a brief guideline for the treatment of patients with LCPD.
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Project description:Legg-Calve-Perthes Disease (LCPD) is an idiopathic osteonecrosis of the developing femoral head complicated by pain and disability of the hip joint. To date, the pathological mechanisms of LCPD are not well-known. This study screened the changes in serum protein expression in patients with LCPD.Age- and sex-matched serum samples from 10 control subjects and 10 patients with LCPD were compared using the isobaric tags for relative and absolute quantification (iTRAQ) technique. Gene ontology analyses, KEGG pathway and functional network analyses were performed. Proteins of interest with large differences in expression, S100-A8, alpha-1-acid glycoprotein 1, haptoglobin and apolipoprotein E, were compared by western blotting.The disease/control ratios showed 26 proteins were significantly differentially expressed (all p?<?0.05). Including higher abundances of complement factor H (1.44), complement C4-B (1.45), isocitrate dehydrogenase [NAD] subunit alpha (2.7) alpha-1-acid glycoprotein 1 (1.87), heptoglobin (1.53) and Ig lambda-2 chain C regions (1.46), and lower levels of apolipoprotein E (0.50), apolipoprotein F (0.60), apolipoprotein C-III (0.69), S100-A8 (0.73), S100-A9 (0.75) and prothrombin (0.77) in LCPD than in controls. The alpha-1-acid glycoprotein 1 and haptoglobin increases, and apolipoprotein E and S100-A8 decreases were confirmed by western blot. KEGG pathway analysis revealed these proteins were related to the complement and coagulation cascades, Staphylococcus aureus infection, PPAR signaling, fat digestion and absorption, and vitamin digestion and absorption. Functional network analysis suggested that the proteins were involved in lipid regulation.The complement and coagulation cascades, and abnormal lipid metabolism may be involved in the pathogenesis of LCPD.
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Project description:PURPOSE:Legg-Calvé-Perthes disease (LCPD) is uncommon in girls. The presentation of LCPD in female patients has been reported as later in onset and associated with certain high-impact activities. Our aim is to characterize the presentation of female LCPD at a large center, with particular attention to the clinical and radiographic features of late-onset disease (>ten years of age). We perceived an increasing burden of late-onset disease with adult-like radiographic features. METHODS:All patients presenting to a single large urban children's hospital from 1990-2014 with a diagnosis of LCPD were reviewed. Demographic, clinical, and radiographic data for all female patients were examined and compared to historical norms. RESULTS:Four-hundred and fifty-one patients presented with LCPD in the study period, of which 82 (18.2 %) were female. The average age at presentation was 6.58 years in girls, which is similar to the classically reported mean age. Fourteen patients participated in high-impact repetitive activities or those with deep flexion and abduction, although few were late presenters. There were four female patients who presented for initial diagnosis >ten years of age. CONCLUSIONS:There was a paucity of late-onset LCPD in girls in the study population, and the females with LCPD had a very similar age and character to their presentation as did males. Although their presentation is infrequent, three of four older females with LCPD were engaged in high-level physical activity, and their disease may be attributed to high-impact, repetitive athletics. LEVEL OF EVIDENCE:Case series, Level IV.
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Project description:Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. Clinical symptoms include coarse facial features, joint stiffness, hepatosplenomegaly, hip osteonecrosis, and dysostosis multiplex. MPS IVA symptoms are similar but with joint hypermobility.With suspicion of MPS disease, clinicians request urine studies for quantitative and qualitative glycosaminoglycans (GAGs). Diagnosis is confirmed by decreased enzyme activity in leukocytes or cultured skin fibroblasts. Further confirmation is obtained with identification of two mutations in the ARSB gene for MPS VI or mutations in the GALNS gene for MPS IVA.We report slowly progressing patients, one with MPS VI and two with MPS IVA, who presented with skeletal changes and hip findings resembling Legg-Calvé-Perthes disease or spondyloepiphyseal dysplasia and normal/near normal urine GAG levels. The urine analysis data presented suggest that present screening techniques for MPS are inadequate in milder patients and result in delayed or missed diagnoses. The patients presented in this paper emphasize the importance of enzymatic and molecular testing.
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Project description:BackgroundAbnormal development and growth of the capital femoral epiphysis and acetabulum are associated with a wide variety of underlying etiologies, one of which is Legg-Calvé-Perthes disease.Case descriptionWe report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. These cases illustrate the importance of identifying individuals with a type II collagen abnormality, as it informs management, allows investigation for other complications, and provides the opportunity for accurate genetic counseling and consideration of other family members who might be at risk.Literature reviewThe literature documents numerous private mutations in COL2A1 associated with diverse clinical phenotypes including bilateral hip dysplasia and premature osteoarthritis. Some of these mutations are associated with a joint-specific phenotype but few other skeletal or extraskeletal manifestations. Only careful clinical examination of children presenting with hip anomalies therefore will reveal additional findings that warrant an evaluation by a clinical geneticist. DNA mutation analysis may be useful for making a specific diagnosis and identifying other at-risk family members.Purposes and clinical relevanceThe purpose of our report is to alert clinicians to the possibility that children who present with bilateral Perthes-like disease of the hip might have an underlying mutation in the gene encoding type II collagen. It is important to consider this in the differential diagnosis and workup of such children as it has specific prognostic, clinical, genetic counseling, and reproductive sequelae.
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| S-EPMC6138855 | biostudies-literature
Project description:BackgroundLegg-Calvé-Perthes disease (LCPD) is the avascular osteonecrosis of the proximal femoral epiphysis. It is a rare disease of unclear etiology in children, although alterations in coagulation or the collagen gene have been described and could be associated with its etiology. Our objective was to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.MethodsDNA was obtained and genotyped by real-time PCR with TaqMan probes. Prothrombin (FII) and homocysteine (Hcy) were determined by a coagulometric method. The variables were described as mean and standard deviation or percentages, and genotypic and allelic distributions were analyzed using the Student's t-test. The Hardy-Weinberg equilibrium and OR were also used.ResultsWe studied 23 patients with LCPD and 46 controls. We did not find any association of the MTHFR, CBS, PT, COL1A1, and COL2A1 genetic variants with LCPD. However, when adjusting the data with the Hcy values for the MTHFR C677T polymorphism, the C/C genotypes showed an association with the recessive model (p = 0.038), with susceptibility to LCPD.ConclusionNo association was found with the CBS, PT, COL1A1, and COL2A1 genes. Nevertheless, our results suggest a significant link between moderately elevated Hcy levels and the MTHFR C677T polymorphism in a cohort of Mexican children with LCPD.
| S-EPMC8905721 | biostudies-literature
Project description:BackgroundLegg-Calve-Perthes disease (LCPD) is a form of idiopathic femoral head necrosis that can lead to permanent femoral head deformities and premature osteoarthritis in children under the age of 15. Its pathogenesis is utterly and remains to be clarified. Although many research publications on LCPD have emerged during the last few decades, few systematic bibliometric analyses of these articles have been reported.MethodsA bibliometric analysis was performed to investigate the development processes and hotspots, as well as the collaboration and influence among countries, institutions, authors, journals, and keywords of papers relevant to LCPD from the Web of Science Core Collection (WoSCC) during the period from 1 January 2000 to 30 June 2023.ResultsA total of 2,205 researchers from 916 institutions across 53 countries/regions have contributed to 673 papers published in 199 academic journals. The research on LCPD has shown significant fluctuations but a gradual increase in the number of articles published over the last two decades. The United States leads in the number of publications of LCPD, with the Texas Scottish Rite Hospital for Children being the most productive institution. English, as the most widely used language in the world, was undoubtedly the most popular language. Herring JA, who acted as both the corresponding and first author, has contributed to the most co-cited papers published. The most number of LCPD papers are published in the Journal of Pediatric Orthopaedics, whereas the Journal of Bone and Joint Surgery American Volume garnered the highest total citations, indicating the great importance of these two journals in the field of orthopedics. The most frequently used keywords in published articles were related to the symptoms, mechanisms, and prognosis, revealing the research focus of most scholars.ConclusionOur research described the development trends and hotspots in the research field of LCPD and will help researchers make better decisions.
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