As trials and treatments for spinal muscular atrophy (SMA) rapidly evolve, understanding the natural history and potential utility of the 10-meter walk/run test (10MWRT) in ambulant individuals is critical. Study aims were to: 1) establish change over time and across age for 10MWRT time in an untreated natural history cohort of young, ambulatory participants with SMA and 2) identify relations between 10MWRT time and age, SMA type, SMN2 copy number and anthropometrics. Untreated individuals (n = 56) age 2 to 21 years who were enrolled in a long-term natural history study between 2005 and 2014 and met inclusion criteria were included. Linear mixed effects models were used to assess changes in 10MWRT time with age and associations with SMA type, SMN2 copy number, and body mass. SMA type 3b (versus 3a), SMN2 copy number 4 (versus 3) and lower body mass were associated with faster 10MWRT. 10MWRT performance improved between 3 and 8 years of age, was stable between 9 and 10, and gradually declined from 11 to 18. Findings provide the first longitudinal natural history report of 10MWRT time in young individuals with SMA and offer a critical foundation for interpreting childhood change in short distance walking speed with pharmacologic treatment.
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http://dx.doi.org/10.1016/j.nmd.2021.08.010 | DOI Listing |
Earth Planets Space
December 2024
School of Geographical and Earth Sciences, The University of Glasgow, Glasgow, G12 8RZ Scotland, UK.
Abstract: The effects of post-hydration heating over a broad range of temperatures are evident in many Mighei-like carbonaceous (CM) chondrites as a variety of mineral transitions. To better understand these processes and how a CM chondrite's starting composition may have affected them, we experimentally heated two meteorites with different degrees of aqueous alteration, Allan Hills 83100 and Murchison, at 25 °C temperature steps from 200 °C to 950 °C and 300 °C to 750 °C, respectively. During heating, synchrotron in situ X-ray diffraction patterns were collected.
View Article and Find Full Text PDFPeerJ
December 2024
Key Laboratory of Vertebrate Evolution and Human Origins, Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing, China.
New discoveries of the late Silurian fossil fish (Eugaleaspidae, Eugaleaspiformes, Galeaspida), sp. nov. and sp.
View Article and Find Full Text PDFJ Vasc Surg Venous Lymphat Disord
December 2024
Division of Vascular Surgery, UPMC, Pittsburgh, Pennsylvania; Department of Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:
Background: Portal venous system aneurysms (PVA) are increasingly diagnosed on cross-sectional computed tomography (CT) imaging. However, the natural history of these aneurysms is poorly understood and reports are limited to small case series.
Methods: Terms relevant to PVA were searched in radiology reports (2010-2022) with PVA presence confirmed by manual review.
Mol Genet Metab
December 2024
The Children's Hospital of Philadelphia, Neurology, 3401 Civic Center Blvd, Philadelphia 19104, PA, USA. Electronic address:
Metachromatic leukodystrophy (MLD) is a progressive demyelinating disorder resulting from the toxic accumulation of sulfatides. The stereotyped neurodegeneration of MLD is well understood, and cases are categorized into subtypes by age at neurologic onset: late infantile (LI), juvenile (J), and adult. The systemic burden of disease, such as gallbladder involvement, however, is less well characterized.
View Article and Find Full Text PDFSci Rep
December 2024
Science Group, Natural History Museum, Cromwell Road, London, SW7 5BD, UK.
The earliest named stromatolite Cryptozoon Hall, 1884 (Late Cambrian, ca. 490 Ma, eastern New York State), was recently re-interpreted as an interlayered microbial mat and non-spiculate (keratosan) sponge deposit. This "classic stromatolite" is prominent in a fundamental debate concerning the significance or even existence of non-spiculate sponges in carbonate rocks from the Neoproterozoic (Tonian) onwards.
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