Browsing by Author "Jones, Harrison"

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    ItemOpen Access
    Association between Dysphagia and Surgical Outcomes across the Continuum of Frailty.
    (Journal of nutrition in gerontology and geriatrics, 2021-04) Cohen, Seth M; Porter Starr, Kathryn N; Risoli, Thomas; Lee, Hui-Jie; Misono, Stephanie; Jones, Harrison; Raman, Sudha
    This study examined the relationship between dysphagia and adverse outcomes across frailty conditions among surgical patients ≥50 years of age. A retrospective cohort analysis of surgical hospitalizations in the Healthcare Cost and Utilization Project's National Inpatient Sample among patients ≥50 years of age undergoing intermediate/high risk surgery not involving the larynx, pharynx, or esophagus. Of 3,298,835 weighted surgical hospitalizations, dysphagia occurred in 1.2% of all hospitalizations and was higher in frail patients ranging from 5.4% to 11.7%. Dysphagia was associated with greater length of stay, higher total costs, increased non-routine discharges, and increased medical/surgical complications among both frail and non-frail patients. Dysphagia may be an independent risk factor for poor postoperative outcomes among surgical patients ≥50 years of age across frailty conditions and is an important consideration for providers seeking to reduce risk in vulnerable surgical populations.
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    ItemOpen Access
    Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
    (Genetics in medicine : official journal of the American College of Medical Genetics, 2020-05) Khan, Aleena A; Case, Laura E; Herbert, Mrudu; DeArmey, Stephanie; Jones, Harrison; Crisp, Kelly; Zimmerman, Kanecia; ElMallah, Mai K; Young, Sarah P; Kishnani, Priya S

    Purpose

    Enzyme replacement therapy (ERT) with recombinant human acid-α glucosidase (rhGAA) at standard dose of 20 mg/kg every other week is insufficient to halt the long-term progression of myopathy in Pompe disease.

    Methods

    We conducted a retrospective study on infantile-onset Pompe disease (IPD) and late-onset Pompe disease (LOPD) patients with onset before age 5 years, ≥12 months of treatment with standard dose ERT, and rhGAA immunogenic tolerance prior to dose escalation. Long-term follow-up of up to 18 years was obtained. We obtained physical therapy, lingual strength, biochemical, and pulmonary assessments as dose was escalated.

    Results

    Eleven patients with IPD (n = 7) or LOPD (n = 4) were treated with higher doses of up to 40 mg/kg weekly. There were improvements in gross motor function measure in 9/10 patients, in lingual strength in 6/6 patients, and in pulmonary function in 4/11. Significant reductions in urinary glucose tetrasaccharide, creatine kinase, aspartate aminotransferase, and alanine aminotransferase were observed at 40 mg/kg weekly compared with lower doses (p < 0.05). No safety or immunogenicity concerns were observed at higher doses.

    Conclusion

    Higher rhGAA doses are safe, improve gross motor outcomes, lingual strength, pulmonary function measures, and biochemical markers in early-onset Pompe disease, and should be considered in patients with clinical and functional decline.
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    Novel approaches to quantify CNS involvement in children with Pompe disease.
    (Neurology, 2020-06-09) Korlimarla, Aditi; Spiridigliozzi, Gail A; Crisp, Kelly; Herbert, Mrudu; Chen, Steven; Malinzak, Michael; Stefanescu, Mihaela; Austin, Stephanie L; Cope, Heidi; Zimmerman, Kanecia; Jones, Harrison; Provenzale, James M; Kishnani, Priya S
    OBJECTIVE:To characterize the extent of central nervous system involvement in children with Pompe disease using brain magnetic resonance imaging (MRI) and developmental assessments. METHODS:The study included fourteen children (ages 6-18 years) with infantile Pompe disease (IPD) (n=12) or late onset Pompe disease (LOPD) (n=2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach; the individual FS scores from ten anatomical areas were summed to yield a total FS score (range: absent-0 to severe-30) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period. RESULTS:Mild to severe WM hyperintense foci were seen in 10/12 children with IPD (median age-10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in Processing Speed, Fluid Reasoning, Visual Perception, and receptive vocabulary. The two children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments. CONCLUSION:This study systematically characterized WM hyperintense foci in children with IPD; which could serve as a benchmark for longitudinal follow up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.