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74 results - showing 31 - 40  
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Investigating epilepsies
Investigations in Child Neurology 4242   0
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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 ...
EEG
Investigations in Child Neurology 6386   0
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{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 ...
Investigating the neonate with abnormal neurology
Investigations in Child Neurology 9116   0
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Investigating Neonatal Seizures
Investigations in Child Neurology 6496   0
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Ischaemic forearm test
Investigations in Child Neurology 4863   0
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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...
Phenylalanine load
Investigations in Child Neurology 2158   0
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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.
Cholesterol ester trafficking
Investigations in Child Neurology 2393   0
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Employed for definitive diagnosis of Niemann-Pick type C phenotype.
Very Long Chain Fatty Acids
Investigations in Child Neurology 2153   0
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Usually done in peroxisomopathies, but essential for diagnosis of DBP deficiency when plasma studies are normal.
Investigating Fatty Acid Oxidation disorders
Investigations in Child Neurology 2374   0
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Also clinically heterogeneous but urinary organic acid and plasma carnitine and acylcarnitine studies will prompt this evaluation
Investigating Pyruvate Dehydrogenase
Investigations in Child Neurology 2547   0
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Clinically heterogeneous, including neonatal hypotonia and epileptic seizures, Leigh and Leigh-like syndromes, episodic ataxia and paroxysmal dystonia. Lactates may be normal Basal ganglia abnormality (especially globus pallidus) may be a clue.
74 results - showing 31 - 40  
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pleasedonate