scholarly journals Clinic Case of Rare Type VI Osteogenesis Imperfecta

2019 ◽  
Vol 16 (1) ◽  
pp. 30-35
Author(s):  
Olga N. Ignatovich ◽  
Leyla S. Namazova-Baranova ◽  
Tea V. Margieva ◽  
Natalia V. Zhurkova ◽  
Kirill V. Savostyanov ◽  
...  

Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology has changed as a result of genetics development. The majority of all cases is related to mutations in collagen genes whereas rare mostly recessive forms are related to mutations in genes encoding collagen post-translational modification. Mutations in SERPINF1 gene were chosen as molecular cause of osteogenesis imperfecta type VI in 2011. Thus the new pathophysiology of this disease was revealed. Children with osteogenesis imperfecta type VI have high-frequency of fractures despite the management with bisphosphonates because mineralized bone osteoid is considerably reduced.

2020 ◽  
pp. 112067212091934
Author(s):  
Sonia De Francesco ◽  
Arianna Sgheri ◽  
Alessandro Di Maggio ◽  
Francesco Rana ◽  
Pinto Anna Maria ◽  
...  

Introduction This case report presents two patients affected by a very rare association of bilateral retinoblastoma and osteogenesis imperfecta. Case report Two Caucasian males with familial history and clinical signs of osteogenesis imperfecta came to our attention for bilateral leukocoria. The ocular fundus examination revealed bilateral retinoblastoma. Proper therapies were dispensed in order to achieve full regression. Genetic counseling was performed. Discussion The primary role of genetics in retinoblastoma pathogenesis in widely known, and different genes have been identified. Osteogenesis imperfecta is a rare connective tissue disorders, caused by mutated genes encoding for collagen. The single gene defect in osteogenesis imperfecta type VI is Serpin Family F Member 1 ( SERPINF1), a neurotrophic factor for the neuronal differentiation in retinoblastoma cells. The association of bilateral retinoblastoma and osteogenesis imperfecta could be the result of the mutation of a single gene playing a role in a hypothetical common pathway.


Bone Research ◽  
2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Nele Vollersen ◽  
Wenbo Zhao ◽  
Tim Rolvien ◽  
Fabiola Lange ◽  
Felix Nikolai Schmidt ◽  
...  

AbstractThe recent identification of homozygous WNT1 mutations in individuals with osteogenesis imperfecta type XV (OI-XV) has suggested that WNT1 is a key ligand promoting the differentiation and function of bone-forming osteoblasts. Although such an influence was supported by subsequent studies, a mouse model of OI-XV remained to be established. Therefore, we introduced a previously identified disease-causing mutation (G177C) into the murine Wnt1 gene. Homozygous Wnt1G177C/G177C mice were viable and did not display defects in brain development, but the majority of 24-week-old Wnt1G177C/G177C mice had skeletal fractures. This increased bone fragility was not fully explained by reduced bone mass but also by impaired bone matrix quality. Importantly, the homozygous presence of the G177C mutation did not interfere with the osteoanabolic influence of either parathyroid hormone injection or activating mutation of LRP5, the latter mimicking the effect of sclerostin neutralization. Finally, transcriptomic analyses revealed that short-term administration of WNT1 to osteogenic cells induced not only the expression of canonical WNT signaling targets but also the expression of genes encoding extracellular matrix modifiers. Taken together, our data demonstrate that regulating bone matrix quality is a primary function of WNT1. They further suggest that individuals with WNT1 mutations should profit from existing osteoanabolic therapies.


2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard

Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  

Author(s):  
N. A. Azizan ◽  
K. S. Basaruddin ◽  
M. H. Mat Som ◽  
S. F. Khan ◽  
A. R. Sulaiman ◽  
...  

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D Garcia Iglesias ◽  
J.M Rubin Lopez ◽  
D Perez Diez ◽  
C Moris De La Tassa ◽  
F.J De Cos Juez ◽  
...  

Abstract Introduction The Signal Averaged ECG (SAECG) is a classical method forSudden Cardiac Death (SCD) risk assessment, by means of Late Potentials (LP) in the filtered QRS (fQRS)[1]. But it is highly dependent on noise and require long time records, which make it tedious to use. Wavelet Continuous Transform (WCT) meanwhile is easier to use, and may let us to measure the High Frequency Content (HFC) of the QRS and QT intervals, which also correlates with the risk of SCD [2,3]. Whether the HFC of the QRS and QT measured with the WCT is a possible subrogate of LP, has never been demonstrated. Objective To demonstrate if there is any relationship between the HFC measured with the WCT and the LP analyzed with the SAECG. Methods Data from 50 consecutive healthy individuals. The standard ECG was digitally collected for 3 consecutive minutes. For the WCT Analysis 8 consecutive QT complexes were used and for the SAECG Analysis all available QRS were used. The time-frequency data of each QT complex were collected using the WCT as previously described [3] and the Total, QRS and QT power were obtained from each patient. For the SAECG, bipolar X, Y and Z leads were used with a bidirectional filter at 40 to 250 Hz [1]. LP were defined as less than 0.05 z in the terminal part of the filtered QRS and the duration (SAECG LP duration) and root mean square (SAECG LP Content) of this LP were calculated. Pearson's test was used to correlate the Power content with WCT analysis and the LP in the SAECG. Results There is a strong correlation between Total Power and the SAECG LP content (r=0.621, p<0.001). Both ST Power (r=0.567, p<0.001) and QRS Power (r=0.404, p=0.004) are related with the SAECG LP content. No correlation were found between the Power content (Total, QRS or ST Power) and the SAECG LP duration. Also no correlation was found between de SAECG LP content and duration. Conclusions Total, QRS and ST Power measured with the WCT are good surrogates of SAECG LP content. No correlation were found between WCT analysis and the SAECG LP duration. Also no correlation was found between the SAECG LP content and duration. This can be of high interest, since WCT is an easier technique, not needing long recordings and being less affected by noise. Funding Acknowledgement Type of funding source: None


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