An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).

BACKGROUND: Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis. There are no other known disease-specific cellular changes (eg, protein aggregation), but autopsy reports to date have been limited, often lacking genetic or biochemical diagnostic confirmation. OBJECTIVE: The goal of this study was to characterize neuropathological findings in the brains of seven patients with VPS13A disease (chorea-acanthocytosis). METHODS: In this study, we collected brain tissues and clinical data from seven cases of VPS13A for neuropathological analysis. The clinical diagnosis was confirmed by the presence of VPS13A mutations and/or immunoblot showing the loss or reduction of VPS13A protein. Tissues underwent routine, special, and immunohistochemical staining focused on neurodegeneration. Electron microscopy was performed in one case. RESULTS: Gross examination showed severe striatal atrophy. Microscopically, there was neuronal loss and astrogliosis in affected regions. Luxol fast blue staining showed variable lipid accumulation with diverse morphology, which was further characterized by electron microscopy. In some cases, rare degenerating p62- and ubiquitin-positive cells were present in affected regions. Calcifications were present in four cases, being extensive in one. CONCLUSIONS: We present the largest autopsy series of biochemically and genetically confirmed VPS13A disease and identify novel histopathological findings implicating abnormal lipid accumulation. © 2023 International Parkinson and Movement Disorder Society.

Factors Associated With the Acceptance of Military Applicants to a U.S. Allopathic Medical School.

INTRODUCTION: Service members and veterans applying to medical schools can be a challenging experience. Often, the applicants have difficulty providing descriptions of their experiences. Additionally, their pathway to medical school is significantly different compared to traditional applicants. We sought to determine if there were statistically significant factors within a cohort of U.S. military medical school applications to a U.S.-based allopathic medical school to provide recommendations on how to best advise military applicants. METHODS: Data about social, academic, and military factors were collected and analyzed from the American College Application Service (AMCAS) applications to the West Virginia University School of Medicine (WVU SoM) from the 2017 to 2021 cycles. Eligibility criteria included the applications that indicated that the applicant listed any type of military experience. RESULTS: In the 5-year study period, there were 25,514 applicants to the WVU SoM, and 1.6% (n = 414) self-identified as military applicants. Of the military applicants, 28 (7%) were accepted to the WVU SoM. Statistically significant differences were found in several factors, including but not limited to academic performance, number of total experiences (14.5 vs. 12, P = .01), and number of military experiences (4 vs. 2, P = .003) listed on the AMCAS applications. In the accepted group, 88% of the applications included information about military experiences, which was understandable to the nonmilitary researchers compared to 79% in the nonaccepted group (P = .24). CONCLUSIONS: Premedical advisors can share statistically significant findings with military applicants, so they are informed about the academic and experiential factors associated with medical school acceptance. Applicants should also be advised to provide clear explanations of any military lexicon used in their applications. Although not statistically significant, there were a higher percentage of applications that contained descriptions of military language that was understandable to the civilian researchers in the accepted group vs. the nonaccepted group.

Coagulopathy Associated With Trauma: A Rapid Review for Prehospital Providers.

The coagulopathy associated with trauma is a complex and convoluted process that is still poorly understood. However, there are recognized contributors to acute traumatic coagulopathy (ATC) and trauma induced coagulopathy (TIC) that are universal. They are hypothermia, acidosis, and coagulopathy, also known as the lethal triad. Recently, with new understanding of hypocalcemia's role in trauma mortality, the term lethal diamond has been coined to underscore calcium's importance. Prehospital providers often unknowingly exacerbate ATC and TIC with excessive crystalloid administration and poor hypothermia prevention. This article will serve as an overview of the physiologic and iatrogenic drivers of ATC and TIC, and will discuss how they can be prevented, assessed, and treated.

Edith Nourse Rogers: A Pioneer for Women, Military Veterans, and US Medical Education.

This year is the 80th anniversary of the Women's Army Auxiliary Corps. The passage of this seminal legislation - sponsored by Edith Nourse Rogers - formalized the role of women in the US military and compensated them for their service and in the event of injury or illness. Rogers was a pioneer in her own right. A trailblazer for women and a staunch advocate for military veterans' healthcare, Rogers was forged by her wartime experiences. The authors describe Rogers' contributions as a congresswoman during World War II and during her 35 years of public service in the House of Representatives. Congresswoman Rogers was foundational to the modern US healthcare system.

Prehospital Traumatic Brain Injury Management Clinical Pearls and Pathophysiology.

Traumatic brain injury (TBI) management is complex. The brain is a sensitive, high-maintenance organ that loses its ability to take care of itself upon injury, and our primary mission is to achieve and maintain optimal levels of cerebral blood flow (CBF) from the moment of injury until recovery. The authors provide a case and discuss prehospital patient management, including adequate oxygen saturation and blood pressure, early recognition of TBI, frequent exams, detailed charting and hand-off, and fast transport to the next echelon of care.

Hypocalcemia in Military Casualties From Point of Injury to Surgical Teams in Afghanistan.

INTRODUCTION: Hypocalcemia is a known sequela of citrated blood product transfusion. Civilian data suggest hypocalcemia on hospital admission is associated with worse outcomes. Initial calcium levels in military casualties have not previously been analyzed. The objective of this retrospective review aimed to assess the initial calcium levels in military trauma casualties at different Forward Surgical Teams (FST) locations in Afghanistan and describe the effects of prehospital blood product administration on arrival calcium levels. MATERIALS AND METHODS: This is a retrospective cohort analysis of military casualties arriving from point of injury to one of two FSTs in Afghanistan from August 2018 to February 2019 split into four locations. The primary outcome was incidence of hypocalcemia (ionized calcium < 1.20 mmol/L). RESULTS: There were 101 patients included; 55 (54.5%) experienced hypocalcemia on arrival to the FST with a mean calcium of 1.16 mmol/L (95% confidence interval [CI], 1.14 to 1.18). The predominant mechanism of injury consisted of blast patterns, 46 (45.5%), which conferred an increased risk of hypocalcemia compared to all other patterns of injury (odds ratio = 2.42, P = .042). Thirty-eight (37.6%) patients required blood product transfusion. Thirty-three (86.8%) of the patients requiring blood product transfusion were hypocalcemic on arrival. Mean initial calcium of patients receiving blood product was 1.13 mmol/L (95% CI, 1.08 to 1.18), which was significantly lower than those who did not require transfusion (P = .01). Eight (7.9%) of the patients received blood products before arrival, with 6/8 (75%) presenting with hypocalcemia. CONCLUSIONS: Hypocalcemia develops rapidly in military casualties and is prevalent on admission even before transfusion of citrated blood products. Blast injuries may confer an increased risk of developing hypocalcemia. This data support earlier use of calcium supplementation during resuscitation.