Saturday, December 11, 2010

Clinical Manifestations of the Serotonin Syndrome

Cognitive and behavioral features:
confusion/disorientation, agitation/irritability, coma/unresponsiveness, anxiety,
hallucinations (visual and auditory)
Autonomic features:
hyperthermia, diaphoresis, sinus tachycardia, hypertension, dilated pupils, nausea,
flushing
Neuromuscular:
myoclonus (legs especially), hyperreflexia, muscle rigidity, restlessness/hyperactivity,
tremor, ataxia, extensor plantar responses

Clinical Features of Neuroleptic Malignant Syndrome

Administration of neuroleptics (especially high-potency conventional agents)
Hyperthermia >38.0C
Muscle rigidity (may have cogwheel rigidity)
Tremor, myoclonus
Stupor, mutism, delirium
Autonomic instability – tachycardia, labile BP
Tachypnea, dyspnea
Sweating, sialorrhea, incontinent
Dysarthria, dysphagia
Raised CPK & WCC, metabolic acidosis, hypoxia, low serum iron, raised
catecholamines, theta or delta waves on EEG
Complications: rhabdomyolysis, ARF, aspiration pneumonia, pulmonary embolus,
cardiac arrest, DIC, limb contractures, ischemic brain injury
Exclude other central or systemic or toxic causes of hyperthermia

Saturday, August 7, 2010

Mitochondrial cytopathy

Mitochondrial mutations - Mitochondrial DNA acquire mutations about 6-7 times the rate of nuclear DNA.

Reasons-
1. Lacks protective Histones
2. Close proximity to electron transport chain(exposure to high conc of free radicals)
3. Lacks DNA repair mechanism

(Ref : Cohen and Gold )

Monday, July 19, 2010

Aphasia - Disorder of language

Aphasia is not simply a sensory or motor deficit. Language has 6 broad components. Fluency,Naming,Comprehension,Repetition,Reading and Writing. Fluency,comprehension and repetition has some localizing values.

1. Broca`s aphasia - fluency and repetition impaired. Comprehension intact. Of note, broca`s aphasia can have some impaired comprehension, particularly syntactically dependent sentences.For eg ." The lion was killed by the tiger" . They often incorrectly choose tiger as the dead animal. Prosody is also lost.

2.Wernicke`s aphasia - Compehension and repetiton impaired. Fluency intact.Lots of paraphasic errors. Neologism.

In Broca`s aphasia the patient is frustated, in Wernicke`s aphasia the examiner is frustated.


3.Conduction aphasia - Repetition only impaired. Comprehension and fluency intact.

4. Transcortical aphasia - resembles Broca`s, Wernicke`s but repetition is spared. Seen in watershed infarcts. Can be subdivided into Transcortical sensory aphasia if comprehension is impaired or Transcortical motor if fluency is impaired but comprehension is intact.

5. Global aphasia - Repetition,comphresion and fluency impaired.Seen in large Left MCA infarct.

Ref : Neuroanatomy - Hal Blumenfeld

Thursday, March 11, 2010

The Notch 3 gene is a big gene. It codes for a transmembrane protein (receptor) which has an intracellular and extracellular domain. The most common mutation in the gene is a missense mutation,seen in more than 90% of the cases. There are about 33 exons, which codes for extracellular domain. The extracellular domain contains 34repeats of EGFR. Each repeats contains 6 cysteine (Cys) residues. When mutation does occur, the number of cys residues either increases or decreases to an odd number. This mutation results in abnormal clearance of extracellular domain of notch 3 receptor.