Systemic Mastocytosis Presenting as Pathologic Intertrochanteric Femur Fracture.

Systemic mastocytosis (SM) is pathologically characterized by the proliferation of mast cells with infiltrates in various organs, almost always including bone marrow, leading to defects in bone remodeling. Osteoporosis and subsequent fragility fractures are the most common and clinically relevant presentation, although pathologic fracture through the focal lytic lesions can also be observed. Here, we report the case of a 54-year-old woman, with a recent history of unexplained severe allergic reactions, presenting with intertrochanteric fracture of the left femur which on careful history, physical and radiological evaluation was determined to be pathological.

Inflammatory Myofibroblastic Tumor 12 Years After Treatment for Synovial Sarcoma: A Case Report.

Inflammatory myofibroblastic tumors (IMTs) are mesenchymal neoplasms most seen in the abdominopelvic region, lung, and retroperitoneum; and less commonly seen in virtually any other site. We report a case of two lower limb masses consistent with diagnosis of IMTs. This is a 39-year-old woman with a history of right lower extremity popliteal fossa synovial sarcoma diagnosed 12 years prior and treated with chemotherapy, surgery, and radiation.

Anti-Phospho-Tau Gene Therapy for Chronic Traumatic Encephalopathy.

Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder caused by repetitive trauma to the central nervous system (CNS) suffered by soldiers, contact sport athletes, and civilians following accident-related trauma. CTE is a CNS tauopathy, with trauma-induced inflammation leading to accumulation of hyperphosphorylated forms of the microtubule-binding protein Tau (pTau), resulting in neurofibrillary tangles and progressive loss of neurons. At present, there are no therapies to treat CTE.

AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease.

Alzheimer's disease (AD) is a progressive degenerative neurological disorder affecting nearly one in nine elderly people in the United States. Population studies have shown that an inheritance of the apolipoprotein E (APOE) variant APOE4 allele increases the risk of developing AD, whereas APOE2 homozygotes are protected from late-onset AD. It was hypothesized that expression of the "protective" APOE2 variant by genetic modification of the central nervous system (CNS) of APOE4 homozygotes could reverse or prevent progressive neurologic damage.