Results 41 to 50 of about 332,460 (336)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Myxoinflammatory fibroblastic sarcoma of the thigh: A morphologic diversity
Avicenna Journal of Medicine, 2012 Myxoinflammatory fibroblastic sarcoma (MIFS)/acralmyxoinflammatory fibroblastic sarcoma (AMFS) is a rare, painless, low-grade neoplasm which commonly occurs in the extremities. It has a distinctive morphology and can be a diagnostic challenge, simulating
Vanisri H Raghavan +3 more
doaj +1 more source
Simple Method for the Objective Activity Type Assessment with Preschoolers, Children and Adolescents
Children, 2020 Background: The objective and accurate assessment of children’s sedentary and physical behavior is important for investigating their relation to health. The purpose of this study is to validate a simple and robust method for the identification of sitting,
Jan Christian Brønd +4 more
doaj +1 more source
Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
A RARE CASE OF GIANT FIBROLIPOMA OF THE THIGH IN A CHILD [PDF]
Romanian Journal of Pediatrics, 2017 Lipomas are benign tumors consisting of fat tissue that are typically located just beneath the skin, they are most often found on the upper back, shoulders, arms and buttocks. Less commonly, they can be found in deeper tissue of the thigh. Most lipomas
Andreea Oltean +4 more
doaj +1 more source
From flux to dust mass: Does the grain-temperature distribution matter for estimates of cold dust masses in supernova remnants? [PDF]
, 2015 The amount of dust estimated from infrared to sub-millimetre (submm) observations strongly depends on assumptions of different grain sizes, compositions and optical properties. Here we use a simple model of thermal emission from cold silicate/carbon dust
Andersen, Anja C. +3 more
core +3 more sources
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
SensorsGait event detection is essential for controlling an orthosis and assessing the patient’s gait. In this study, patients wearing an electromechanical (EM) knee–ankle–foot orthosis (KAFO) with a single IMU embedded in the thigh were subjected to gait event
Sumin Yang +6 more
doaj +1 more source
Growth and slaughtering performance, carcase fleshiness and meat quality according to the plumage colour in Padovana male chickens slaughtered at 18 weeks of age [PDF]
, 2019 The aim of this trial was to investigate on the growth and meat quality of Padovana male chickens with different plumage varieties, chamois (PC - light brown feathers with white edge), silver (PS - white feathers with black edge), and their cross.
Rizzi, Chiara
core +1 more source
Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons +31 more
wiley +1 more source