Corrigendum to "Niemann-Pick disease type C presenting as a developmental coordination disorder with bullying by peers in a school-age child" - Suzuki R, Tanaka A, Matsui T, Gunji T, Tohyama J, Narita A, Nanba E, Ohno K.

[This corrects the article DOI: 10.1155/2015/807591.]. Language: en...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

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School-aged children with developmental coordination disorder (DCD) are at greater risk for physical inactivity, lower global self-worth, and internalizing problems, such as depression and anxiety. Based on the environmental stress hypothesis (ESH), recent...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
A 62-year old non-smoker, Caucasian male was evaluated for lung transplantation based on severe upper-lobe predominant emphysema with superimposed fibrosis in the lower lung zones (Figure 1). The patient had no significant exposure history, and prior work-up for alpha-1-antitrypsin deficiency, autoimmune disease, and hypersensitivity pneumonitis was unremarkable. The diagnosis of Niemann Pick disease, type B was eventually established based on a compatible family history with an almost identical disease presentation in a sibling.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: Case Anecdotes, Comments and Opinions Source Type: research
When viewers tuned in to the international premiere of “Doctor Who” last week, the hit science fiction show introduced several new characters, including one with dyspraxia. In the episode, the audience meets 19-year-old Ryan Sinclair, who admits he’s frustrated about not knowing how to ride a bike at his age. Ryan is revealed to have the developmental coordination disorder dyspraxia, which prevented him from mastering this skill as child. Even though his grandmother and step-grandfather try to help him, Ryan continues to struggle and fall off his bike. In reality, the actor playing Ryan (Tosin Cole) does ...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: News Slider Speech-Language Pathology Apraxia of Speech Childhood Apraxia of Speech communication sciences and disorders dyspraxia motor speech disorders Source Type: blogs
Developmental co-ordination disorder is a motor skill disorder that affects an estimated 5-6% of children but lacks recognition and understanding, leading to under-diagnosis. Essential for diagnosis is a marked impairment in motor co-ordination that signif...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
In absence of a gold phenotypic standard for developmental coordination disorder recognition, it remains elusive whether the finger-to-nose test in these patients represents a sufficiently accurate entity to reflect symptoms distinctive of this disorder. Based on the relatively good results in early onset ataxia patients and controls, we conclude that quantitative analysis of the finger-to-nose test can provide a reliable support tool during the assessment of phenotypic early onset ataxia.
Source: Clinical Biomechanics - Category: Orthopaedics Authors: Source Type: research
Carbon nanotube-based sensor reports lipid accumulation associated with atherosclerosis and Niemann-Pick disease
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
CONCLUSIONS: Not enough evidence currently exists to support or refute the use of VR over non-VR interventions for improving motor performance in children with DCD. Despite the potential for improving the motor performance of DCD children, the absence of specific protocols prevents formal recommendations of VR for these children. Future studies should consider VR protocols that are more specific regarding the tasks, features and target motor skills to be developed by DCD children. In addition, comparisons of similar groups at baseline, the concealment of allocation and the blinding of assessors are internal validity aspect...
Source: European Journal of Physical and Rehabilitation Medicine - Category: Rehabilitation Authors: Tags: Eur J Phys Rehabil Med Source Type: research
The abnormal accumulation of lipids within the endolysosomal lumen occurs in many conditions, including lysosomal storage disorders, atherosclerosis, nonalcoholic fatty liver disease (NAFLD), and drug-induced phospholipidosis. Current methods cannot monitor endolysosomal lipid content in vivo, hindering preclinical drug development and research into the mechanisms linking endolysosomal lipid accumulation to disease progression. We developed a single-walled carbon nanotube–based optical reporter that noninvasively measures endolysosomal lipid accumulation via bandgap modulation of its intrinsic near-infrared emission....
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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Source: Developmental Neurorehabilitation - Category: Neurology Authors: Source Type: research
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