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Full-Text Articles in Medicine and Health Sciences

A Somatic Mutation In Moesin Drives Progression Into Acute Myeloid Leukemia, Ouyang Yuan, Jeffrey A Magee, Et Al. Apr 2022

A Somatic Mutation In Moesin Drives Progression Into Acute Myeloid Leukemia, Ouyang Yuan, Jeffrey A Magee, Et Al.

Open Access Publications

Acute myeloid leukemia (AML) arises when leukemia-initiating cells, defined by a primary genetic lesion, acquire subsequent molecular changes whose cumulative effects bypass tumor suppression. The changes that underlie AML pathogenesis not only provide insights into the biology of transformation but also reveal novel therapeutic opportunities. However, backtracking these events in transformed human AML samples is challenging, if at all possible. Here, we approached this question using a murine in vivo model with an MLL-ENL fusion protein as a primary molecular event. Upon clonal transformation, we identified and extensively verified a recurrent codon-changing mutation (Arg


Segmental Colitis Associated With Diverticulosis Masquerading As Polyploid-Appearing Mucosa In The Rectosigmoid Area On Endoscopy And As Focal Thickening On Imaging, Eugene C. Nwankwo Jr, Gebran Khneizer, Gregory Sayuk, Jill Elwing, Necat Havlioglu, Michael Presti Mar 2022

Segmental Colitis Associated With Diverticulosis Masquerading As Polyploid-Appearing Mucosa In The Rectosigmoid Area On Endoscopy And As Focal Thickening On Imaging, Eugene C. Nwankwo Jr, Gebran Khneizer, Gregory Sayuk, Jill Elwing, Necat Havlioglu, Michael Presti

Open Access Publications

Segmental colitis associated with diverticulosis (SCAD) is an inflammatory disease affecting segments of the large bowel with diverticular disease. SCAD presents several challenges in diagnoses and treatment because it often mimics a range of disorders including inflammatory bowel disease and malignancy. Here, we present the case of a 72-year-old man with lower abdominal pain and bloody stools whose initial abdominal workup showed nonspecific large bowel thickening and concerns for malignancy. Ultimately, the patient was diagnosed with mild SCAD and treated conservatively with a resolution of symptoms. He had no symptoms at the three-month and 1-year follow-ups. This case highlights the …


Fragile X Mental Retardation Protein And Cerebral Expression Of Metabotropic Glutamate Receptor Subtype 5 In Men With Fragile X Syndrome: A Pilot Study, James Robert Brašić, Jack Alexander Goodman, Ayon Nandi, David S Russell, Danna Jennings, Olivier Barret, Samuel D Martin, Keith Slifer, Thomas Sedlak, Anil Kumar Mathur, John P Seibyl, Elizabeth M Berry-Kravis, Dean F Wong, Dejan B Budimirovic Feb 2022

Fragile X Mental Retardation Protein And Cerebral Expression Of Metabotropic Glutamate Receptor Subtype 5 In Men With Fragile X Syndrome: A Pilot Study, James Robert Brašić, Jack Alexander Goodman, Ayon Nandi, David S Russell, Danna Jennings, Olivier Barret, Samuel D Martin, Keith Slifer, Thomas Sedlak, Anil Kumar Mathur, John P Seibyl, Elizabeth M Berry-Kravis, Dean F Wong, Dejan B Budimirovic

Open Access Publications

Multiple lines of evidence suggest that a deficiency of Fragile X Mental Retardation Protein (FMRP) mediates dysfunction of the metabotropic glutamate receptor subtype 5 (mGluR