15 research outputs found

    Data_Sheet_2_Bone Mineral Density and Current Bone Health Screening Practices in Friedreich’s Ataxia.pdf

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    IntroductionFriedreich’s Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the frataxin (FXN) gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information regarding bone health in FRDA.MethodsDual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children’s Hospital of Philadelphia (CHOP). Disease outcomes, including the modified FRDA Rating Scale (mFARS), were abstracted from the FRDA Clinical Outcomes Measures Study (FACOMS), a longitudinal natural history study. A survey regarding bone health and fractures was sent to individuals in FACOMS-CHOP.ResultsAdults with FRDA (n = 24) have lower mean whole body (WB) (–0.45 vs. 0.33, p = 0.008) and femoral neck (FN) (–0.71 vs. 0.004, p = 0.02) aBMD Z-scores than healthy controls (n = 24). Children with FRDA (n = 10) have a lower WB-less-head (–2.2 vs. 0.19, p ConclusionsLow aBMD is prevalent in FRDA, but few of even the highest risk individuals are undergoing screening. Our findings highlight potential missed opportunities for the screening and treatment of low aBMD in FRDA.</p

    Data_Sheet_1_Bone Mineral Density and Current Bone Health Screening Practices in Friedreich’s Ataxia.docx

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    IntroductionFriedreich’s Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the frataxin (FXN) gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information regarding bone health in FRDA.MethodsDual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children’s Hospital of Philadelphia (CHOP). Disease outcomes, including the modified FRDA Rating Scale (mFARS), were abstracted from the FRDA Clinical Outcomes Measures Study (FACOMS), a longitudinal natural history study. A survey regarding bone health and fractures was sent to individuals in FACOMS-CHOP.ResultsAdults with FRDA (n = 24) have lower mean whole body (WB) (–0.45 vs. 0.33, p = 0.008) and femoral neck (FN) (–0.71 vs. 0.004, p = 0.02) aBMD Z-scores than healthy controls (n = 24). Children with FRDA (n = 10) have a lower WB-less-head (–2.2 vs. 0.19, p ConclusionsLow aBMD is prevalent in FRDA, but few of even the highest risk individuals are undergoing screening. Our findings highlight potential missed opportunities for the screening and treatment of low aBMD in FRDA.</p

    MOESM1 of Pooling as a strategy for the timely diagnosis of soil-transmitted helminths in stool: value and reproducibility

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    Additional file 1: Table S1. Raw numbers of true positives/negatives for both ‛seedingʼ experiment (Smith College) using N. americanus egg counts and field-sample testing (Smith College and Natural History Museum) for both individual samples and pools

    Baseline characteristics of class III obese females stratified by ethnicity.

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    <p>*Statistically significant changes; Data presented as mean ± SEM. AU, arbitrary units. BMI, body mass index; HOMA2-IR, updated homeostasis model assessment of insulin resistance; AST, aspartate aminotransferase; ALT, alanine aminotransferase; NAS, NAFLD Activity Score.</p><p>Baseline characteristics of class III obese females stratified by ethnicity.</p
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