pleasedonate

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Wiki 4465   0
  Peroxisomes are spherical 1pm diameter organelles with a multitude of oxidative and other enzymes packed within a single-layered membrane (http://www.peroxisomedb. org) global' peroxisomal disorders with impaired peroxisomal biogenesis (fewer or even no peroxisomes), together with those single peroxisomal enzyme defects that induce a similar phenotype (in particular, D-bifunctional protein deficiency) adrenoleukodystrophy, due to an X-linked defect of the peroxisomal ABCD1 gene that codes for the peroxisomal membrane protein ABCD1, a member of the ATP-hmding cassette transporters. While estimation of very...
 
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Wiki 2782   0
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.
 
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Wiki 4412   0
CT Brain, with contrast is around 85% sensitive for a diagnosis of CVST. If there is doubt MR Venography should be undertaken Negative CT in the context of persistent neurological impairment should prompt further investigation with MRI or, if this proves impossible, repeat CT, as pathologies such as arterial ischaemic stroke become more apparent on CT with time. In Arterial ischaemic stroke (AIS) as well as brain imaging, investigation should include evaluation for thrombophilia (including anticardiolipin antibodies). The history should include enquiry...
 
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Wiki 7577   0
{tabulizer:include style[gr.alterora.elemental_2_grey.css] id[tab_sb9gKdXcNp]} Condition Presentation Key investigations Treatment Autosomal-recessive guanosine triphosphate (GTP) cyclohydrolase 1 (AR-GCH1) deficiency without hyperphenylalaninaemia (those with high blood phenylalanine will have been detected by neonatal screening test) 'Cerebral palsy'; oculogyric crises, tremulousness, bradykinesia Avoid levodopa trial to prevent diagnostic confusion, phenylalanine loading test is simple to perform: 4 hour blood spot phenylalanine level will be high as will phenylalanine/tyrosine ratio. C5F pterins low, monoamine...
 
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Wiki 5075   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 23391   0
Lacosamide is a functionalized amino acid (R)-2-acetamido-N-benzyl-3-methoxypropionamide. It is one of the latest AEDs to be licensed (at the end of 2008), under the brand name Vimpat.
 
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Wiki 28038   0
Lamotrigine is a 3,5-diamino-6-(2,3-dichlorophenyl)-as-triazine of the phenyltriazine class. It was first licensed for clinical practice in 1991. Lamotrigine is one of the best newer AEDs, although there are now concerns for its use in women and myoclonic epilepsies.
 
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Wiki 12909   0
Levetiracetam is a single enantiomer, (S)-α-ethyl-2-oxo-pyrrolidine acetamide. Levetiracetam, licensed in 1999, is probably the best of all the newer AEDs1-7. It is chemically unrelated to any of the other current AEDs.
 
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Wiki 9325   0
Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy
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pleasedonate