Interruption of the blood supply of femoral head: an experimental study on the pathogenesis of Legg-Calve-Perthes Disease

Alpaslan, A. Mumtaz; Aksoy, M. Ataman; Yazıcı, Muharrem

doi:10.1007/s00402-007-0367-y

Cited by 17 publications

(13 citation statements)

References 35 publications

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“…Osteoarthritis (OA), the most common adult rheumatic disease, is characterized by progressive cartilage degeneration (1). Avascular necrosis (AVN) of the femoral head is a consequence of impaired blood supply (2), while Legg‐Calvé‐Perthes disease is a form of AVN in growing children (3). These 3 pathologies are considered distinct entities.…”

mentioning

confidence: 99%

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg‐Calvé‐Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1

Su¹,

Li²,

Shang-li³

et al. 2008

Arthritis & Rheumatism

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Objective. To identify the genetic abnormality responsible for osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg-Calvé-Perthes disease in a single family, and to determine factors responsible for the distinct phenotypes manifested by different family members.Methods. Forty-two members of a 5-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. Histopathologic changes of the diseased tissue were examined. Linkage analysis was performed with markers spanning the COL2A1 locus. Haplotypes were constructed and mutation of the gene was detected.Structures of the wild-type and mutant proteins were modeled.Results. Sixteen affected members were identified (5 with isolated precocious hip OA, 6 with AVN of the femoral head, and 5 with Legg-Calvé-Perthes disease). A p.Gly1170Ser mutation of COL2A1 cosegregated with the 3 diseases and was absent in controls. Of note, age at onset in relation to the closure status of the femoral head epiphysis was associated with the diseases, with Legg-Calvé-Perthes disease presenting prior to closure (at ages 6-14 years), AVN of the femoral head presenting during closure (at ages 15-18 years), and precocious OA of the hip presenting after closure (at ages 21-34 years). Molecular modeling predicted that the serine-toglycine substitution loosens the helical structure of the protein.

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confidence: 99%

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg‐Calvé‐Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1

Su¹,

Li²,

Shang-li³

et al. 2008

Arthritis & Rheumatism

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“…The etiology of LCPD remains unclear, which makes it impossible to create prevention strategies or to identify individuals at risk. A number of possible causes have been proposed, including trauma, an inflammatory process, vascular occlusion, hemodynamic alterations, endothelial injury, thrombophilia and insulin-like growth factor-1 pathway abnormality (2,8,9).…”

Section: Introductionmentioning

confidence: 99%

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Zhao

Liao

et al. 2016

Experimental and Therapeutic Medicine

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Abstract. The aim of this study was to assess the association of 27-bp variable number tandem repeat (VNTR) polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with Legg-Calvé-Perthes disease (LCPD), and to provide a scientific basis for further research into the pathogenic mechanism. A total of 80 patients with LCPD and 100 healthy subjects were recruited in this case-control study. The 27-bp VNTR and G894T polymorphisms of the eNOS gene were genotyped using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism, respectively, followed by agarose gel electrophoresis and DNA sequencing. Allelic and genotypic frequencies were computed in the two groups and subjected to statistical analysis. For the 27-bp VNTR polymorphism, individuals with LCPD showed a higher frequency of the ab genotype [27.5 vs. 14%; odds ratio (OR), 2.33; 95% confidence interval (CI), 1.10-4.92; P=0.024]. For the G894T polymorphism, the LCPD case group showed a higher frequency of the heterozygous genotype GT than the healthy control group (35 vs. 17%; OR, 2.67; 95% CI, 1.33-5.36; P=0.005). The results indicate that these eNOS gene polymorphisms may be a risk factor for LCPD. The 27-bp VNTR polymorphism in intron 4 and G894T polymorphism in exon 7 may be involved in the etiology of LCPD.

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“…Alpaslan ve arkadaşları [18] 15 LCPH olan çocuğun femur başının yük taşımayan bölgesinden ameliyat sı-rasında aldıkları kemik ve kıkırdak iğne biyopsilerinde, kemik trabeküllerinde nekroz, hücre sayısı azalmış kemik iliği, osteoblastların yokluğu ve kondrositlerin hasarlanmasını, en belirgin histopatolojik bulgular olarak rapor etmişlerdir.…”

Section: Fi̇zyopatoloji̇unclassified

Legg-Calvé-Perthes hastalığı; etiyoloji ve fizyopatoloji

Ömeroğlu¹,

İnan²

2017

TOTBID

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Interruption of the blood supply of femoral head: an experimental study on the pathogenesis of Legg-Calve-Perthes Disease

Cited by 17 publications

References 35 publications

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg‐Calvé‐Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg‐Calvé‐Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Legg-Calvé-Perthes hastalığı; etiyoloji ve fizyopatoloji

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