Research Spotlight

Brown, K. D., H. W. Shirkey, T. Shock, K. Thornton, A. E. Rafael-Yarihuaman and A. Bindra (2021). “Impact of symptom-guided, progressive cardiac rehabilitation after left ventricular assist device implantation.” Proc (Bayl Univ Med Cent) 34(5): 631-633.

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A 29-year-old woman with a left ventricular assist device (LVAD) completed a progressive, symptom-limited cardiac rehabilitation program consisting of boxing, weight-lifting, and aerobic exercise, where she improved her exercise capacity by 2.7 metabolic equivalents (P < 0.001) and demonstrated significant myocardial recovery, allowing for successful LVAD explant 9 months after implantation.

Morrow, K., S. Choi, K. Young, M. Haidar, C. Boduch and J. A. Bourgeois (2021). “Amantadine for the treatment of childhood and adolescent psychiatric symptoms.” Proc (Bayl Univ Med Cent) 34(5): 566-570.

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This retrospective study examined clinical parameters associated with amantadine treatment of psychiatric symptoms in children. A total of 297 pediatric patients were prescribed amantadine and met study criteria to assess clinical responses and medication outcomes. More than 62% of patients experienced clinically significant symptom control and 83% achieved at least maintenance symptom control, while 11% discontinued amantadine for nonresponse and 6% stopped amantadine because of side effects. Among patients previously receiving other psychotropic medication, 42% and 28% of patients fully discontinued second- or third-generation antipsychotics or antidepressants, respectively. Patients responsive to amantadine who discontinued or reduced antipsychotic dose experienced a significant reduction in body mass index. Amantadine appears be an efficacious and safe alternative for treatment of a broad set of psychiatric symptoms in children and adolescents. Specifically, it may serve as an effective adjunct to stimulants for attention deficit/hyperactivity disorder-related symptoms and appears to be a safer alternative to second- or third-generation antipsychotics.

Cedars, A., C. Manlhiot, J. M. Ko, T. Bottiglieri, E. Arning, A. Weingarten, A. Opotowsky and S. Kutty (2021). “Metabolomic Profiling of Adults with Congenital Heart Disease.” Metabolites 11(8).

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Metabolomic analysis may provide an integrated assessment in genetically and pathologically heterogeneous populations. We used metabolomic analysis to gain mechanistic insight into the small and diverse population of adults with congenital heart disease (ACHD). Consecutive ACHD patients seen at a single institution were enrolled. Clinical variables and whole blood were collected at regular clinical visits. Stored plasma samples were analyzed for the concentrations of 674 metabolites and metabolic markers using mass spectrometry with internal standards. These samples were compared to 28 simultaneously assessed healthy non-ACHD controls. Principal component analysis and multivariable regression modeling were used to identify metabolites associated with clinical outcomes in ACHD. Plasma from ACHD and healthy control patients differed in the concentrations of multiple metabolites. Differences between control and ACHD were greater in number and in degree than those between ACHD anatomic groups. A metabolite cluster containing amino acids and metabolites of amino acids correlated with negative clinical outcomes across all anatomic groups. Metabolites in the arginine metabolic pathway, betaine, dehydroepiandrosterone, cystine, 1-methylhistidine, serotonin and bile acids were associated with specific clinical outcomes. Metabolic markers of disease may both be useful as biomarkers for disease activity and suggest etiologically related pathways as possible targets for disease-modifying intervention.

Jack, C. F., K. L. Birkemeier, J. M. Santiago, C. F. Macmurdo and M. B. Crisp (2021). “Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.” Pediatr Radiol 51(9): 1758-1761.

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This case report of a 14-year-old boy with arthralgia and clinically suspected inflammatory arthropathy highlights how magnetic resonance imaging (MRI) ultimately diagnosed skeletal dysplasia. A genetic evaluation revealed a transient receptor potential vanilloid 4 (TRPV4) pathogenic variant. This is a rare description of the MRI appearance of this type of dysplasia in long bone epiphyses corresponding with the histological findings of disrupted endochondral ossification. This report offers imaging support to the description of endochondral bone growth disruption in TRPV4-related skeletal dysplasias.

Traylor, J. I., T. Y. El Ahmadieh, N. M. Bedros, N. Al Adli, S. E. Stutzman, A. M. Venkatachalam, M. N. Pernik, C. M. Collum, P. M. Douglas, V. Aiyagari, C. A. Bagley, D. M. Olson and S. G. Aoun (2021). “Quantitative pupillometry in patients with traumatic brain injury and loss of consciousness: A prospective pilot study.” J Clin Neurosci 91: 88-92.

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OBJECTIVE: Loss of consciousness (LOC) is a hallmark feature in Traumatic Brain Injury (TBI), and a strong predictor of outcomes after TBI. The aim of this study was to describe associations between quantitative infrared pupillometry values and LOC, intracranial hypertension, and functional outcomes in patients with TBI. METHODS: We conducted a prospective study of patients evaluated at a Level 1 trauma center between November 2019 and February 2020. Pupillometry values including the Neurological Pupil Index (NPi), constriction velocity (CV), and dilation velocity (DV) were obtained. RESULTS: Thirty-six consecutive TBI patients were enrolled. The median (range) age was 48 (range 21-86) years. The mean Glasgow Coma Scale score on arrival was 11.8 (SD = 4.0). DV trichotomized as low (<0.5 mm/s), moderate (0.5-1.0 mm/s), or high (>1.0 mm/s) was significantly associated with LOC (P = .02), and the need for emergent intervention (P < .01). No significant association was observed between LOC and NPi (P = .16); nor between LOC and CV (P = .07). CONCLUSIONS: Our data suggests that DV, as a discrete variable, is associated with LOC in TBI. Further investigation of the relationship between discrete pupillometric variables and NPi may be valuable to understand the clinical significance of the pupillary light reflex findings in acute TBI.