Legg–Calvé–Perthes disease overview

Rodríguez-Olivas, Armando Odiseo; Hernández-Zamora, Edgar; Maldonado, Elba Reyes

doi:10.1186/s13023-022-02275-z

Cited by 33 publications

(53 citation statements)

References 71 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…From the radiological point of view, the process of ischemia and subsequent bone regeneration have been divided into several stages ( 38 ), including initial or necrosis stage ( Figure 10A ), fragmentation stage ( Figure 10B ), reossification stage ( Figure 10C ), and Final healing stage. However, the symptoms of children with LCPD in the early stages are usually ignored by their parents, so the majority of the children are in the middle and late stages of the disease when come to the outpatient clinic firstly.…”

Section: Discussionmentioning

confidence: 99%

“…Considering the above factors, the sample size of this study was relatively small which is a limitation of our research, and the association of the results with LCPD stages was not analyzed and discussed in this study. In general, surgical treatment is not necessary in patients at early stages, which have full and painless range of motion of the hip and are low risk radiologically regarding the femoral head ( 38 ). In authors' hospital, derotation osteotomy of proximal femur combined with pelvic osteotomy are more preferred for the treatment of LCPD who need surgical treatment.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Microarray analysis of lncRNA and mRNA expression profiles in patients with Legg-Calve-Perthes disease

Wang

Zhong

et al. 2022

Front. Pediatr.

View full text Add to dashboard Cite

BackgroundThe etiology and underlying pathogenic mechanisms of Legg-Calve-Perthes disease (LCPD) still remain unclear. A disruption of blood supply to the femoral head, producing ischemic necrosis, appears to be the critical pathological event. The lncRNAs play crucial roles in many biological processes and are dysregulated in various human diseases. However, its expression profiles and the potential regulatory roles in the development of LCPD have not been investigated.MethodsIn this study, differentially expressed lncRNA and mRNA of Legg-Calve-Perthes disease patients were profiled. Several GO terms and pathways that play important roles in the regulation of vascular structure, function or coagulation were selected for further analysis. The lncRNA -mRNA interacting networks in LCPD tissues were constructed to identify novel potential targets for further investigation.ResultsThe microarray analysis revealed that 149 lncRNAs and 37 mRNAs were up-regulated, and 64 lncRNAs and 250 mRNAs were down-regulated in LCPD tissues. After filtering, we finally found 14 mRNAs and constructed an mRNA-lncRNA interacting network. Through the analysis of the interaction network, we finally found 13 differentially expressed lncRNAs, which may be implicated in the pathogenesis of LCPD. These mRNAs/lncRNAs were further validated with qRT-PCR.ConclusionThe findings of this study established a co-expression network of disease-related lncRNAs and mRNAs which screened out from the concerned G.O. terms and Pathways, which may provide new sights for future studies on molecular mechanisms of LCPD.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Microarray analysis of lncRNA and mRNA expression profiles in patients with Legg-Calve-Perthes disease

Wang

Zhong

et al. 2022

Front. Pediatr.

View full text Add to dashboard Cite

show abstract

“…Legg–Calvé–Perthes disease causes unilateral or bilateral avascular necrosis of femoral heads in children and has multiple etiologies ( 9 ). The necrotic bone gradually collapses, and the femoral head hence loses its sphericity, resulting in a permanent deformity.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

Peng

Hsiang

et al. 2022

Front. Pediatr.

View full text Add to dashboard Cite

IntroductionMucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We present a 17-year-old woman with progressive bilateral hip pain and radiographic evidence of spondyloepiphyseal dysplasia.MethodsDiagnosis of MPS IVA was made based on whole-exome sequencing (WES) of blood samples collected from the patient and family members, high urinary glycosaminoglycan excretion, supportive clinical manifestations, radiographic examinations, including whole-body X-rays, cervical MRI, and pelvic CT. The patient underwent bilateral total hip arthroplasties sequentially, at a 1-month interval. Femoral heads were preserved for the micro-CT (μCT) analysis and the osteochondral histology examination.ResultsThe patient presented with multiple skeletal deformities, including vertebras and long bone deformities. WES disclosed compound heterozygous variants at exon 11 (c.1156C>T) and exon 12 (c.1288C>G) of the GALNS (NM_000512.5). The μCT analysis revealed significant bone quantity loss and microarchitectural change in both weight-bearing area (WBA) and non-weight-bearing area (NWBA) of the femoral heads, while histological analysis showed structural abnormity of articular cartilage in the WBA of the femoral heads.ConclusionWe have found compound heterozygous variants of GALNS. This is also the first study to report the microarchitectural and histological changes of both subchondral bone and articular cartilage of the femoral head in a patient with MPS IVA.

show abstract

“…Rare diseases (RDs) are characterized by low incidence, as well as difficulties obtaining a timely and accurate diagnosis. 1 , 2 Legg–Calvé–Perthes disease (LCPD) is an RD. This self-limited microvascular disorder causes an occlusion of the femoral head blood supply, resulting in idiopathic avascular osteonecrosis of the developing femoral head.…”

Section: Introductionmentioning

confidence: 99%

Prothrombin Time and Coagulation Factor IX as Hemostatic Risk Markers for Legg– Calvé–Perthes Disease

Hernández-Zamora

Rodríguez-Olivas

Rosales-Cruz

et al. 2023

Clin Appl Thromb Hemost

Self Cite

View full text Add to dashboard Cite

Background Legg–Calvé–Perthes disease (LCPD) is a pediatric disorder that occurs due to the avascular necrosis of the femoral head and affects the range of motion of the hip in various degrees. Its etiology is still unknown, although it has been associated with coagulation abnormalities, however, the lack of reproducibility in the results in various studies has created a controversy as to whether hemostasis disorders are related to LCPD. On the other hand, there is little information on laboratory studies that could facilitate the diagnosis and treatment of LCPD. Methods Blood and plasma samples were tested from 25 patients with LCPD and 50 healthy controls, matched by sex and age. Cellular markers were evaluated through complete blood count, as well as coagulation times, coagulation factors activity, antithrombotic proteins, and homocysteine concentration. Results After assessing activity value frequencies in each group, the results showed more significant activity in some of the biological risk markers of thrombophilia, presenting a substantial difference in prothrombin time↘, FV↗, FVIII↗, FIX↗, and Hcy↗. These values imply that there may be hypercoagulable states in patients, which can cause thrombotic events. Conclusions Diminished prothrombin time and increase in FV activity, FVIII, FIX, and Hcy concentration support the hypothesis that microthrombi formation in small-caliber vessels could be causing avascularity and femoral necrosis, which are traits of LCPD. In addition, based on our results, we believe that the laboratory studies carried out are very useful in the diagnosis and treatment of LCPD.

show abstract

Legg–Calvé–Perthes disease overview

Cited by 33 publications

References 71 publications

Microarray analysis of lncRNA and mRNA expression profiles in patients with Legg-Calve-Perthes disease

Microarray analysis of lncRNA and mRNA expression profiles in patients with Legg-Calve-Perthes disease

Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

Prothrombin Time and Coagulation Factor IX as Hemostatic Risk Markers for Legg– Calvé–Perthes Disease

Contact Info

Product

Resources

About