Dental Characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type II

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive inherited disorder form of primordial dwarfism, caused by mutations in the pericentrin gene. The purpose of the study was to examine the clinical and radiological features, physicochemical properties and microstructures of the tooth affected with MOPD II.The mandibular 2nd molar was collected from the MOPD II patient. Micro-computerized tomography, scanning electron microscopy, energy dispersive spectrometry and Vickers microhardness analysis were performed on the MOPD II and the normal control.The morphology of the MOPD II tooth appeared to have malformed pulp and root and showed a small size. The mineral density measurement showed that the MOPD II tooth had similar scores in the enamel, but lower scores in the root 1/2 and apical dentin compared to the normal control. The microhardness values were smaller in the cusp enamel, root 1/2 dentin and apical dentin of the MOPD II compared to the normal control.In this study, the dental characteristics and the physicochemical properties of a tooth affected with MOPD II were analyzed to improve understanding of the oral manifestations of the disease and to assist in proper dental treatment by identifying precautions.

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Bone Mineral Density Measurements: Are they Worth While?

Journal of the Royal Society of Medicine ◽

10.1177/014107689608900810 ◽

1996 ◽

Vol 89 (8) ◽

pp. 457-461 ◽

Cited By ~ 2

Author(s):

D J Torgerson ◽

C Donaldson ◽

D M Reid

Keyword(s):

Bone Mineral Density ◽

Bone Density ◽

Bone Mineral ◽

Diagnostic Tool ◽

Screening Tool ◽

Density Measurement ◽

Bone Density Measurement ◽

Mineral Density ◽

Density Measurements ◽

Bone Mineral Measurements

Bone mineral density measurements have been criticized on the grounds that they are not a worth-while screening tool. In this paper we argue that bone mineral measurements can be an efficient diagnostic tool even if they are not of proven value for screening. There is complex relationship between the costs of a measurement, the intervention and the predictive value of the test all of which must be accounted for when assessing the value of a bone density measurement. For bone density measurements to be used for screening, a wider evaluation needs to be undertaken compared with that for their use as a diagnostic tool. We address some common objections, for example, that low compliance with screening would undermine efficiency, and show that these are not relevant. Evaluations of screening need to address issues that are likely to affect efficiency.

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Validation Of A Bi-Energetic Spectrum Approximation In Bone Mineral Density Measurement With A Dxa Digital Twin

2021 IEEE 18th International Symposium on Biomedical Imaging (ISBI) ◽

10.1109/isbi48211.2021.9433940 ◽

2021 ◽

Author(s):

Karine Haddadi ◽

Serge Muller ◽

Isabelle Bloch

Keyword(s):

Bone Mineral Density ◽

Bone Mineral ◽

Density Measurement ◽

Bone Mineral Density Measurement ◽

Mineral Density ◽

Digital Twin

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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines ◽

10.3390/biomedicines9070788 ◽

2021 ◽

Vol 9 (7) ◽

pp. 788

Author(s):

Hava Peretz ◽

Ayala Lagziel ◽

Florian Bittner ◽

Mustafa Kabha ◽

Meirav Shtauber-Naamati ◽

...

Keyword(s):

Autosomal Recessive ◽

Heterologous Protein ◽

Heterologous Protein Expression ◽

Type I ◽

Type Ii ◽

Amino Acid Residues ◽

Cysteine Desulfurase ◽

Cofactor Binding ◽

Pathogenic Variants ◽

Expression Studies

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described. Here, we reported the demographic, clinical, molecular and biochemical characterizations of the remaining cases. Seven out of 20 affected individuals (35%) presented with xanthinuria-related symptoms of varied severity. Among the 10 distinct variants identified, six were novel: c.449G>T (p.(Cys150Phe)), c.1434G>A (p.(Trp478*)), c.1871C>G (p.(Ser624*)) and c.913del (p.(Leu305fs*1)) in the XDH gene and c.1046C>T (p.(Thr349Ileu)) and c.1771C>T (p.(Pro591Ser)) in the MOCOS gene. Heterologous protein expression studies revealed that the p.Cys150Phe variant within the Fe/S-I cluster-binding site impairs XDH biogenesis, the p.Thr349Ileu variant in the NifS-like domain of MOCOS affects protein stability and cysteine desulfurase activity, while the p.Pro591Ser and a previously described p.Arg776Cys variant in the C-terminal domain affect Molybdenum cofactor binding. Based on the results of haplotype analyses and historical genealogy findings, the potential dispersion of the identified variants is discussed. As far as we are aware, this is the largest cohort of xanthinuria cases described so far, substantially expanding the repertoire of pathogenic variants, characterizing structurally and functionally essential amino acid residues in the XDH and MOCOS proteins and addressing the population genetic aspects of classical xanthinuria.

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