Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy
Abstract We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatmen...
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2017-12-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | http://link.springer.com/article/10.1186/s13023-017-0735-9 |
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doaj-e19f899469ec4a649923f737560a71392020-11-24T23:26:20ZengBMCOrphanet Journal of Rare Diseases1750-11722017-12-011211410.1186/s13023-017-0735-9Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancyRobert E. Brown0Senthil Senniappan1Khalid Hussain2Mary F. McGuire3Department of Pathology and Laboratory Medicine, UT Health McGovern Medical SchoolDepartment of Paediatric Endocrinology, Alder Hey Children’s HospitalDepartment of Paediatric Medicine Division of Endocrinology, Sidra Medical & Research Center OPCBiomedical AnalyticsAbstract We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment. Subsequent publications have verified the efficacy of such treatment in some cases but limited and variable in others. We present further evidence of a constant but variable role for the mTOR pathway in the biology of CHI and provide a strategy that allows for the short-term testing of sirolimus in individual CHI patients.http://link.springer.com/article/10.1186/s13023-017-0735-9MorphoproteomicsBiomedical analyticsCongenital hyperinsulinism of infancySirolimus |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Robert E. Brown Senthil Senniappan Khalid Hussain Mary F. McGuire |
| spellingShingle |
Robert E. Brown Senthil Senniappan Khalid Hussain Mary F. McGuire Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy Orphanet Journal of Rare Diseases Morphoproteomics Biomedical analytics Congenital hyperinsulinism of infancy Sirolimus |
| author_facet |
Robert E. Brown Senthil Senniappan Khalid Hussain Mary F. McGuire |
| author_sort |
Robert E. Brown |
| title |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy |
| title_short |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy |
| title_full |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy |
| title_fullStr |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy |
| title_full_unstemmed |
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy |
| title_sort |
morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mtor pathway in the biology of congenital hyperinsulinism of infancy |
| publisher |
BMC |
| series |
Orphanet Journal of Rare Diseases |
| issn |
1750-1172 |
| publishDate |
2017-12-01 |
| description |
Abstract We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment. Subsequent publications have verified the efficacy of such treatment in some cases but limited and variable in others. We present further evidence of a constant but variable role for the mTOR pathway in the biology of CHI and provide a strategy that allows for the short-term testing of sirolimus in individual CHI patients. |
| topic |
Morphoproteomics Biomedical analytics Congenital hyperinsulinism of infancy Sirolimus |
| url |
http://link.springer.com/article/10.1186/s13023-017-0735-9 |
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