Diseases Commons^™

Piriformis Syndrome With A Variant Presentation, Roberto Chuapoco, Ryan E. Linford

Annual Research Symposium

Piriformis syndrome has long been a diagnostic quandary due to its tendency to present as other nerve-related conditions. Piriformis syndrome is commonly caused by entrapment of the sciatic nerve as it travels through the greater sciatic foramen due to hypertrophy of the piriformis muscle. However, its constellation of symptoms, including radiating pain down the thigh, can easily be mistaken for lumbosacral radiculopathy. This case report aims to address the misdiagnosis of piriformis syndrome which has prolonged pain for many patients and increased the cost of medical care. It demonstrates a 76-year-old female with a confounding presentation of piriformis syndrome: buttock …

Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.

Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).

Results: Karyotype was …

Testing Extraction Of Dna From Lipid-Rich Tissues Using Various Reagents And Commercially Available Kits, Ryan V. Powers, Walker C. Kay, Jonathon C. Reynolds, Nathaniel E. Hill, Cole J. Farnsworth, Molly E. Henley, Alfred B. Amendolara, Noah D. Boekweg, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

No abstract provided.

Mclena-1: A Phase Ii Clinical Trial For The Assessment Of Safety, Tolerability, And Efficacy Of Lenalidomide In Patients With Mild Cognitive Impairment Due To Alzheimer's Disease; Trial Design And Rationale, Boris Decourt

Annual Research Symposium

No abstract provided.

Lipomatosis Of Nerve, Mehruba Alam, Thomas Benjamin Lyle Wasden

Annual Research Symposium

Lipomatosis of nerve is a benign lesion with increased fibrofatty tissue infiltrating and surrounding nerves, usually occurring in children and young adults as a slowly progressive swelling or mass, which can clinically mimic a tumor or malignancy. Here we report a 59-year-old man who presented with pain in his right foot and a mass that has been mostly stable for years, but which seems to have grown slightly of late, and is clinically suspicious for ganglion cyst. The MRI revealed a fatty mass concerning for lipoma or atypical lipomatous tumor. Consequently, the patient underwent excisional biopsy. The H&E sections showed …

Succinic Semialdehyde Dehydrogenase Deficiency (Ssadhd): Qualitative Needs Assessment For Patients With A Rare Neurological Disorder, Cassandra Bovee, Kayla Woodring

Annual Research Symposium

No abstract provided.

C25: The “Spot Sign”: A Predictor Of Hematoma Expansion, Mckenzie Merritt

Annual Research Symposium

No abstract provided.