Jeffrey Traubici

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BACKGROUND AND PURPOSE Chronic cerebrospinal venous insufficiency is a postulated etiologic factor for multiple sclerosis, but the higher frequency with longer disease duration and progressive disability suggests that chronic cerebrospinal venous insufficiency is secondary to chronic disease. We evaluated the presence of chronic cerebrospinal venous(More)
BACKGROUND Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls. OBJECTIVE The purpose of(More)
Acknowledgements: We thank the family involved in this research for their consent to participation and the clinicians for referring the case and providing samples. We also thank Dr. Steffen Albrecht for assistance with the figures. 3 Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome ABSTRACT Embryonal rhabdomyosarcoma (ERMS),(More)
Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the(More)
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