(C) 2011 American Institute of Physics. [doi:10.1063/1.3590139]“
“Background: X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals Fedratinib JAK/STAT inhibitor to atopic eczema. Objective: To test the hypothesis that co-inheritance of FLG mutations can act as a genetic modifier in XLI.
Methods: An unusually severe XLI phenotype in addition to eczema and mild childhood asthma was investigated
in a female Indian patient by fluorescent in situ hybridization (FISH) for the common STS gene deletion. Direct sequencing of the entire FLG gene was also performed.
Results: FISH analysis revealed that the proband was homozygous for the Selleckchem CDK inhibitor common STS genomic deletion mutation. Further investigation revealed a frame-shift mutation 3672del4 in the gene encoding filaggrin (FLG), leading to premature termination of profilaggrin translation. Interestingly, her father, who had a very typical mild presentation of XLI, did not carry this FLG mutation in addition to his STS deletion. Her
mother was a heterozygous carrier of the FLG mutation and consistent with this, had mild symptoms of ichthyosis vulgaris: she was also a heterozygous carrier of the STS deletion.
Conclusion: This is the second reported case of the modifying effects of FLG null alleles on XLI and strengthens the hypothesis that filaggrin defects can synergize with
STS deficiency to exacerbate the ichthyosis phenotype. (C) 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.”
“The growth in medical imaging over the past 2 decades has yielded unarguable benefits to patients in terms of longer lives of higher quality. This growth reflects new technologies and applications, including high-tech services such as multisection computed ABT737 tomography (CT), magnetic resonance (MR) imaging, and positron emission tomography (PET). Some part of the growth, however, can be attributed to the overutilization of imaging services. This report examines the causes of the overutilization of imaging and identifies ways of addressing the causes so that overutilization can be reduced. In August 2009, the American Board of Radiology Foundation hosted a 2-day summit to discuss the causes and effects of the overutilization of imaging. More than 60 organizations were represented at the meeting, including health care accreditation and certification entities, foundations, government agencies, hospital and health systems, insurers, medical societies, health care quality consortia, and standards and regulatory agencies. Key forces influencing overutilization were identified. These include the payment mechanisms and financial incentives in the U. S.