The presence of germ line mosaicism in cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is typically an autosomal dominant condition. The possibility of alternative causes, such as an autosomal recessive form or germ line mosaicism, have been suggested in some families with CCD, but not proven. We present a family consisting of a mother having three sons affected with CCD. One of the affected boys is a half brother to the other two affected children. The diagnosis of CCD was confirmed by DNA analysis of the RUNX2 gene in all three of the boys in blood; however, initial DNA testing in the mother's blood did not detect the presence of a RUNX2 mutation in the mother. Further testing through heteroduplex analysis applying high-resolution melting analysis followed by subcloning detected low-level mosaicism in DNA isolated from maternal blood and buccal swab, confirming low-level mosaicism in somatic cells. We present the first case of confirmed germ line mosaicism in CCD.

Calcium alginate gel: a biocompatible and mechanically stable polymer for endovascular embolization.

The development and optimization of calcium alginate for potential use in endovascular occlusion was investigated by testing its in vitro and in vivo mechanical stability and biocompatibility. The compressive resistance, rheology, and polymer yield of reacted alginate, and the polymer viscosity of unreacted alginate, were assessed. Biocompatibility was tested by injecting calcium alginate into the kidney capsule of rats. The reactivity of alginates with various structures and levels of purity were compared visually and histologically. Results suggest that calcium alginate is a biocompatible and mechanically stable gel for endovascular applications. Purified alginates exhibited compressive strength of 22 kPa and above at 40% compression, with no significant loss in elasticity. Purified alginate strength was significantly higher than that of crude alginates (p < 0.08). Purified alginates also exhibited significantly lower tissue reaction than crude alginates (p < 0.05). Of the alginates tested, purified high guluronic acid alginates (PHG) exhibited optimal strength and polymer yield, increased biocompatibility, and decreased viscosity. Clinical embolization treatments may be improved with the development of stable and biocompatible polymers such as calcium alginate. Possible uses of improved endovascular polymers include treating arteriovenous malformations (AVMs), aneurysms, blood flow to tumors, and vascular hemorrhaging.

Thermafil obturation: a literature review.

A review of the literature pertaining to the use of Thermafil Endodontic Obturators is presented in this article. Addressed are such concerns as apical microleakage, biocompatibility, coronal leakage, post space considerations, retreatment issues, surgical factors, and clinical evaluations of Thermafil; included are the authors' conclusions concerning its clinical use.

Occurrence of cardiac malformations in relatives of children with transposition of the great arteries.

Transposition of the great arteries (TGA) is the most common cyanotic cardiac malformation, representing 5-7% of all cardiac malformations. Previous estimates of the frequency of cardiac malformations in sibs of probands range from 0-1.7%. This study ascertained the frequency of congenital cardiac malformations in relatives of 271 probands with TGA, who were grouped according to the type of TGA present. These include dextro (d-TGA), levo (l-TGA), complex TGA, and asplenia with TGA. In the d-TGA cases there were 369 sibs, one of whom had a cardiac malformation (0.27%). There were 50 sibs in the l-TGA group, with one sib having a cardiac malformation (2.00%). Cardiac malformations were found in 2 of 143 (1.40%) sibs of the complex TGA index cases, and 1 of 50 (2.00%) sibs in the asplenia with TGA group. The overall recurrence risk of cardiac malformations in sibs of TGA probands was 0.82%. Cardiac malformations in parents of probands were found in 0.29% of d-TGA, 0% of l-TGA, 1.54% of complex TGA, and 0% of asplenia with TGA, giving an overall parental occurrence of 0.55%. This is the first study to provide information on the different types of TGA in evaluating sib occurrence. It provides necessary genetic counseling information for families of probands with TGA.

Age and Duration of Weathering by 40K-40Ar and 40Ar/39Ar Analysis of Potassium-Manganese Oxides.

Supergene cryptomelane [K(1-2)(Mn(3+)Mn(4+))(8)O(16). chiH(2)O] samples from deeply weathered pegmatites in southeastern Brazil subjected to (40)K-(40)Ar and (40)Ar/(39)Ar analysis yielded (40)K-(40)Ar dates ranging from 10.1 +/- 0.5 to 5.6 +/- 0.2 Ma (million years ago). Laser-probe (40)Ar/(39)Ar step-heating of the two most disparate samples yielded plateau dates of 9.94 +/- 0.05 and 5.59 +/- 0.10 Ma, corresponding, within 2 sigma, to the (40)K-(40)Ar dates. The results imply that deep weathering profiles along the eastern Brazilian margin do not reflect present climatic conditions but are the result of a long-term process that was already advanced by the late Miocene. Weathering ages predate pulses of continental sedimentation along the eastern Brazilian margin and suggest that there was a time lag between weathering and erosion processes and sedimentation processes.