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The storage of cultured fibroblasts, like the retention of DNA samples, is one of the prerequisites for later genetic diagnosis of unexplained disorders. Some types of fibroblast study are particularly important
 
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Wiki 6394   0
Gabapentin (1-[aminomethyl]-cyclohexaneacetic acid) first received marketing approval as an adjunctive AED for the treatment of focal epilepsies in 1993.1,2
 
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Condition Clinical Investigations Down syndrome Infantile spasms common (2%) and easily overlooked Interictal EEG slow general spike wave or hypsarrhythmia (chromosomes of course) 1p36 deletion Dysmorphism with straight eyebrows and deep-set eyes, the most common seizure type is infantile spasms Karyotype, fluorescent in situ hybridization, multiplex ligation-dependent probe amplification Ring chromosome 14 ...
 
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Wiki 2550   0
Also clinically heterogeneous but urinary organic acid and plasma carnitine and acylcarnitine studies will prompt this evaluation
 
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Differential diagnosis of seizures with fever The following diagnostic possibilities exist, these not being mutually exclusive. 1. The convulsion is not an epileptic seizure nor an anoxic seizure but is a rigor or an hallucination or febrile myoclonus or febrile ataxia. 2. The seizure is a febrile syncope similar to a syncope suffered by adults with influenza and fever. 3. The seizure is a syncope due to ventricular tachyarrhythmia precipitated by fever Brugada syndrome (a sodium channelopathy with several...
 
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Golgi and endoplasmic reticulum disorders (congenital defects of glycosylation) Attaching sugar molecules to proteins or lipids (glycosylation) is mediated by the Golgi apparatus or complex and by the endoplastic reticulum and is necessary for numerous biochemical functions. Defects may be divided into soluble and structural abnormalities. The 'soluble' congenital defects of glycosylation (CDG) - predominantly defects of N-glycosylation - are many and increasing in number but by far the most important is CDG1a. 'structural' defects of O-glycosylation comprise congenital and later onset muscular dystrophies and are investigated by completely different...
 
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Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of the neurological disorders which may result from a severe lysosomal enzyme deficiency, extreme caution is necessary when partial deficiency is found, particularly 'within the heterozygous range', since in some of these disorders the prevalence of heterozygosity is quite high in the normal population. The term 'pseudodeficiency' is used in lysosomal storage diseases to denote the situation in which individuals show greatly...
 
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Mitochondrial disorders With the explosion of knowledge about disorders of the mitochondria, definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to specific investigations of mitochondrial function. To a certain extent there is a relationship between the type of disease and the site of metabolic defect along the pathway from the inner mitochondrial membrane to the termination of the respiratory chain, but there is considerable heterogeneity. It has long been known that most of the...
 
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