منابع مشابه
Evaluation of visual evoked potentials in patient with angelmans syndrome - case report.
BACKGROUND Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. CASE REPORT We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degre...
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Because a history of shaking is often lacking in the so-called "shaken baby syndrome," diagnosis is usually based on a constellation of clinical and radiographic findings. Forty-eight cases of infants and young children with this diagnosis seen between 1978 and 1985 at the Children's Hospital of Philadelphia were reviewed. All patients had a presenting history thought to be suspicious for child...
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Murphy (2006) criticizes psychiatric nosology from the perspective of the philosophy of science, arguing that the model of pathology as encapsulated in the Diagnostic and Statistical Manual of Mental Disorders reflects a folk conception of the mental, and of malfunctioning, that is inadequately integrated with cognitive and behavioral neuroscience. The present paper supports this view through a...
متن کاملPathological Plasticity in Fragile X Syndrome
Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene, FMR1, results in a variety of neurological consequences directly related to problems with the development, maintenance, and capacity of plastic neuronal networks. In this paper, we discuss current research illustrating t...
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There have been few publications relating to limb girdle muscular dystrophy (LGMD) in India. In this issue Meena et al describe clinical and pathological features of 26 LGMD patients from South India. The LGMDs are an expanding group of diverse conditions, the term LGMD was first introduced in 1954 by Natrass and Walton to and there is reduced calpain on Western Blot analysis. LGMD2B is caused ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1991
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-5-5-1