scholarly journals Association between bone mineral density and hearing loss in osteogenesis imperfecta

2012 ◽  
Vol 122 (2) ◽  
pp. 401-408 ◽  
Author(s):  
Freya K. R. Swinnen ◽  
Els M. R. De Leenheer ◽  
Stefan Goemaere ◽  
Cor W. R. J. Cremers ◽  
Paul J. Coucke ◽  
...  
2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Alexandra H McBride ◽  
Summer H Ladd ◽  
Jason M Organ ◽  
Rachel A Menegaz

2013 ◽  
Vol 84 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Dieke H J Kok ◽  
Ralph J B Sakkers ◽  
Hans E H Pruijs ◽  
Pieter Joosse ◽  
René M Castelein

2020 ◽  
Vol 93 (4) ◽  
pp. 263-271
Author(s):  
Lara E. Graves ◽  
Christie-Lee Wall ◽  
Julie N. Briody ◽  
Bruce Bennetts ◽  
Karen Wong ◽  
...  

Osteogenesis imperfecta (OI) is a heterogenous group of heritable bone dysplasias characterized by bone fragility, typically low bone mass, joint laxity, easy bruising, and variable short stature. Classical OI is caused by autosomal dominant pathogenic variants in <i>COL1A1</i> or <i>COL1A2</i> that result in either reduced production of normal type 1 collagen or structurally abnormal collagen molecules. Pathogenic variants in these genes generally result in low bone mass. Here, we report a family that had 2 affected individuals who presented with minimal trauma fractures and were found to have elevated bone mineral density (BMD) and a previously unreported variant in <i>COL1A2</i> c.3356C&#x3e;T p.(Ala1119Val). We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders.


2013 ◽  
Vol 122 (10) ◽  
pp. 648-652 ◽  
Author(s):  
Mahmut Özkınrış ◽  
Seyhan Karaçavuş ◽  
Zeliha Kapusuz ◽  
Özlem Balbaloğlu ◽  
Levent Saydam

2015 ◽  
Vol 129 (11) ◽  
pp. 1097-1100 ◽  
Author(s):  
I Ozbay ◽  
C Kahraman ◽  
C Kucur ◽  
N D Namdar ◽  
F Oghan

AbstractObjective:There is evidence for a strong correlation between low bone mineral density and hearing loss. Furthermore, premature hair greying has been associated with low bone mineral density. Hence, this study aimed to investigate, for the first time, the relationship between premature hair greying and hearing impairment.Methods:Fifty patients with premature hair greying (20 women and 30 men), aged under 40 years (mean, 30.1 ± 4.9 years), who had onset of hair greying in their twenties, were recruited, along with 45 age- and sex-matched healthy control subjects (17 women and 28 men; mean age, 28.7 ± 5.1 years). Each participant was tested with low frequency audiometry at 0.125 to 2 kHz, high frequency audiometry at 4 to 8 kHz, and extended high frequency audiometry at 9 to 20 kHz.Results:Hearing thresholds were similar at all frequencies from 0.25 to 4 kHz (p > 0.05); however, significant hearing loss was observed at all frequencies from 8 to 20 kHz in the premature hair greying group compared with the control group (p < 0.05).Conclusion:Patients with premature hair greying had hearing impairment at extended high frequencies. Premature hair greying may be an important risk factor for hearing loss.


2020 ◽  
Vol 52 (7S) ◽  
pp. 324-325
Author(s):  
Andréa Cassimiro de Oliveira ◽  
Rafael Mancini ◽  
Ellen de Oliveira Goiano ◽  
Miguel Akkari ◽  
Victor Keihan Rodrigues Matsudo ◽  
...  

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