Transfusion Dependent Beta-Thalassemia Developing Avascular Necrosis of Femoral Head: A Rare Case

Behera, Sanatan; Jena, Rabindra Kumar; Sethy, Sudha; Nayak, Rohani; Panigrahi, Ashutosh

doi:10.1007/s12288-016-0747-y

Cited by 2 publications

(2 citation statements)

References 5 publications

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“…More so, many diseases like sickle cell anemia, beta-thalassemia and hemochromatosis are associated with AVNFH. All these diseases show iron overload and increased osteoclastogenesis or presence of osteoclast markers in the serum 9 , 10 .…”

Section: Resultsmentioning

confidence: 99%

Systems analysis of avascular necrosis of femoral head using integrative data analysis and literature mining delineates pathways associated with disease

Naik

Narayanan

Khanchandani

et al. 2020

Sci Rep

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Avascular necrosis of femoral head (AVNFH) is a debilitating disease, which affects the middle aged population. Though the disease is managed using bisphosphonate, it eventually leads to total hip replacement due to collapse of femoral head. Studies regarding the association of single nucleotide polymorphisms with AVNFH, transcriptomics, proteomics, metabolomics, biophysical, ultrastructural and histopathology have been carried out. Functional validation of SNPs was carried out using literature. An integrated systems analysis using the available datasets might help to gain further insights into the disease process. We have carried out an analysis of transcriptomic data from GEO-database, SNPs associated with AVNFH, proteomic and metabolomic data collected from literature. Based on deficiency of vitamins in AVNFH, an enzyme-cofactor network was generated. The datasets are analyzed using ClueGO and the genes are binned into pathways. Metabolomic datasets are analyzed using MetaboAnalyst. Centrality analysis using CytoNCA on the data sets showed cystathionine beta synthase and methylmalonyl-CoA-mutase to be common to 3 out of 4 datasets. Further, the genes common to at least two data sets were analyzed using DisGeNET, which showed their involvement with various diseases, most of which were risk factors associated with AVNFH. Our analysis shows elevated homocysteine, hypoxia, coagulation, Osteoclast differentiation and endochondral ossification as the major pathways associated with disease which correlated with histopathology, IHC, MRI, Micro-Raman spectroscopy etc. The analysis shows AVNFH to be a multi-systemic disease and provides molecular signatures that are characteristic to the disease process.

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Section: Resultsmentioning

confidence: 99%

Systems analysis of avascular necrosis of femoral head using integrative data analysis and literature mining delineates pathways associated with disease

Naik

Narayanan

Khanchandani

et al. 2020

Sci Rep

View full text Add to dashboard Cite

show abstract

“…The association of AVN of the lunate and proximal pole of the scaphoid and thalassemia minor in this patient may be coincidental; however, the association of aseptic necrosis and thalassemia minor, mostly in the femoral head, has been described before. [ 8 9 10 11 ] Although the association of AVN of the lunate with sickle cell anemia[ 12 ] and spherocytosis[ 13 ] has been reported, to the best of our knowledge, concurrent AVN of the lunate and proximal pole of the scaphoid and thalassemia minor have not been previously reported. Long-standing hematological disorders, medullary hyperplasia, vascular events with possible bone marrow fat emboli, and an increase in intraosseous pressure might be the contributing factors.…”

Section: Discussionmentioning

confidence: 99%

Concomitant Avascular Necrosis of the Lunate and Proximal Pole of the Scaphoid in a Thalassemia Minor Patient

Afshar

Shariyate

Tabrizi

2022

Advanced Biomedical Research

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Avascular necrosis (AVN) of multiple carpal bones is a very rare condition. This case report presents a patient with concomitant AVN of the lunate and proximal pole of the scaphoid that had led to severe joint space narrowing and degenerative arthritis in the radiocarpal and distal radioulnar joints (DRUJs). She was known to have thalassemia minor hemoglobinopathy. Wrist arthrodesis and distal ulna hemiresection-interposition arthroplasty (Bowers technique) for a DRUJ were offered and performed. The patient was satisfied with the clinical outcomes.

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Transfusion Dependent Beta-Thalassemia Developing Avascular Necrosis of Femoral Head: A Rare Case

Cited by 2 publications

References 5 publications

Systems analysis of avascular necrosis of femoral head using integrative data analysis and literature mining delineates pathways associated with disease

Systems analysis of avascular necrosis of femoral head using integrative data analysis and literature mining delineates pathways associated with disease

Concomitant Avascular Necrosis of the Lunate and Proximal Pole of the Scaphoid in a Thalassemia Minor Patient

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