A large number of school-aged children present with motor-based performance problems that have significant negative effects on their ability to participate fully in the daily activities of home, school, and play. These children have a neurodevelopmental disorder most commonly known as developmental coordination disorder (DCD). These children are frequently brought to the attention of the family doctor and referred to health care professionals in search of answers and services. Therapists treating these children have a large number of intervention approaches at their disposal. This paper presents an overview of these approaches and a review of the available evidence. The evidence for the older, deficit-oriented approaches remains inconclusive, at best; whereas the task-oriented approaches, seem to be better supported. While more work is needed to validate the use of the task-oriented approaches, the results suggest that a shift in perspective from a deficit-oriented to a task-oriented perspective would be appropriate.
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http://dx.doi.org/10.1016/j.spen.2005.12.007 | DOI Listing |
Genes Cells
January 2025
Department of Urology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Tumor development often requires cellular adaptation to a unique, high metabolic state; however, the molecular mechanisms that drive such metabolic changes in TFE3-rearranged renal cell carcinoma (TFE3-RCC) remain poorly understood. TFE3-RCC, a rare subtype of RCC, is defined by the formation of chimeric proteins involving the transcription factor TFE3. In this study, we analyzed cell lines and genetically engineered mice, demonstrating that the expression of the chimeric protein PRCC-TFE3 induced a hypoxia-related signature by transcriptionally upregulating HIF1α and HIF2α.
View Article and Find Full Text PDFGenet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFNat Food
January 2025
School of Biological Sciences, University of Aberdeen, Aberdeen, UK.
Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years.
View Article and Find Full Text PDFNeurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFbioRxiv
December 2024
Department of Chemistry, Emory University, Atlanta, GA, 30322, USA.
Cannulae are tubular protein filaments that accumulate on the extracellular surface of the hyperthermophilic archaeon during cell division. Cannulae have been postulated to act as a primitive extracellular matrix through which cells could communicate or exchange material, although their native biological function remains obscure. Here, we report cryoEM structural analyses of cannulae and of protein assemblies derived from recombinant cannula-like proteins.
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