75 results - showing 31 - 40
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Wiki 4622   0
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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Wiki 4305   0
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 6509   0
{tabulizer:include style[gr.alterora.basic.css] id[tab_OPk9CyOneX]} EEG pattern in common epileptic seizures Seizure type Semiology Ictal EEG Ictal EMG (both deltoids) Comments ...
 
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Wiki 6588   0
 
 
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Wiki 4933   0
This test measures basal and post-exercise venous lactate and ammonia levels. The blood lactate is measured after the fist has been clenched repeatedly for 1 minute with the arm made ischaemic using a sphygmomanometer. Samples are taken at -10 minutes (pre-exercise) and at 0, 1, 3, 5, 10 and 20 minutes following release of the cuff. A normal response is characterized by a lactate increase of 3-5 fold over baseline with a peak at 1-3 minutes post-exercise, while ammonia increases 5-10 fold over the same time. An absent or inadequate (less than 1.5-fold) increase in lactate is...
 
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Wiki 2198   0
This is a method for stressing the pterin system, but may be unreliable. It was developed as a biochemical marker for pterin synthesis defects associated with dopamine-responsive dystonia, especially GTP-CH deficiency. A dose of 100mg/kg of phenylalanine is used. A phenylalanine/tyrosine ratio >7.5 is suggestive, but not diagnostic, of a pterin synthesis defect. The phenylalanine must rise above 600umol/l. for the test to be valid. This test has low sensitivity and specificity.
 
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Wiki 2451   0
Employed for definitive diagnosis of Niemann-Pick type C phenotype.
 
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Wiki 2197   0
Usually done in peroxisomopathies, but essential for diagnosis of DBP deficiency when plasma studies are normal.
 
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Wiki 2416   0
Also clinically heterogeneous but urinary organic acid and plasma carnitine and acylcarnitine studies will prompt this evaluation
75 results - showing 31 - 40
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