Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Antiepileptics include various groups of drugs that have different mechanisms of actions and adverse effects. They are often also used to treat other disorders such as psychosis, chronic pain, and migraine. The most common drugs implicated in overdose include phenytoin, sodium valproate, carbamazepine, and phenobarbital. Common signs of toxicity of these drugs are central nervous system manifestations such as altered sensorium, lethargy, ataxia, and nystagmus. Some ingestions can paradoxically precipitate seizures and even status epilepticus. Sodium valproate can cause hyperammonemic encephalopathy and cerebral edema. Carbamazepine is implicated in cardiac arrhythmias and hyponatremia. Phenobarbital causes sedation, respiratory depression, and hypotension. In suspected overdose, apart from the routine laboratory tests, serum levels of the drug should be sent. Serial levels should be measured, as drug toxicity can be prolonged. Treatment of all these overdoses begins with stabilization of airway, breathing, and circulation, and endotracheal intubation being performed to protect the airway in patients with altered mental status. For decontamination, a single dose of activated charcoal should be given. Multidose of activated charcoal may be useful in phenytoin, carbamazepine, and phenobarbital overdose. Naloxone and carnitine are indicated in valproate overdose. Carbamazepine overdose can cause a widened QRS complex and arrhythmias, which can be treated with sodium bicarbonate. Forced alkaline diuresis is no longer advocated for phenobarbital poisoning. The Extracorporeal Treatments in Poisoning (EXTRIP) workgroup have formulated guidelines for extracorporeal removal of all these drugs. In most cases, hemodialysis is preferred. Other modalities include charcoal hemoperfusion (especially for carbamazepine) or continuous venovenous hemodialysis. Patients who ingest long-acting preparations should be monitored for longer periods.
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PMID:Antiepileptic Overdose. 3202 Oct 7

A 6.5-year-old male neutered Trailhound was admitted for hyperacute, nonprogressive, left-sided hemiparesis. Physical and neurologic examination revealed nonpainful, left-sided poorly ambulatory hemiparesis, decreased left-sided postural reactions and thoracic limbs hyporeflexia. Neuroanatomic localisation was consistent with a left-sided C6-T2 myelopathy. Haematology and biochemistry revealed nonspecific abnormalities. Magnetic resonance imaging of the neck revealed a focal intramedullary lesion at the level of C6-C7 vertebrae compatible with acute hydrated noncompressive nucleus pulposus extrusion or ischemic myelopathy. During the second day of hospitalization, the dog developed convergence-retraction nystagmus, up-gaze palsy and eyelid retraction (Collier's sign) compatible with dorsal midbrain syndrome. Magnetic resonance imaging of the brain revealed a focal lesion compatible with dorsal midbrain ischemic infarct. Further clinicopathologic testing, thoracic and abdominal imaging were unremarkable. Ischemic encephalopathy of unknown etiology was additionally diagnosed. Physiotherapy was performed therapeutically. At 1-year follow-up the dog was normal. This is an unusual report of a dog with myelopathy followed by ischemic encephalopathy with manifestation of convergence-retraction nystagmus in the absence of vestibular signs. This saccadic intrusion is a characteristic clinical manifestation of a dorsal midbrain syndrome localization. The importance of a complete differential diagnoses list formation in a dog with ischemic encephalopathy which leads to a thorough diagnostic investigation plan is highlighted. Moreover, this report contributes to the enrichment of the clinical reasoning veterinary literature on convergence-retraction nystagmus. To the authors' knowledge, this is the second case report (fourth dog) to describe convergence-retraction nystagmus in dogs as a manifestation of dorsal midbrain syndrome.
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PMID:Convergence-Retraction Nystagmus in a Dog With Presumptive Ischemic Encephalopathy Following Acute Cervicothoracic Myelopathy. 3211 81

COX15 mutations were shown to underlie Leigh syndrome (LS), a progressive subacute necrotizing encephalopathy caused by defects in the mitochondrial respiratory chain. Here, two siblings of consanguineous kindred presented in infancy with a syndrome of hypotonia, nystagmus, psychomotor retardation, and pyramidal signs. Toward the end of their second year, both patients developed progressive quadriparesis, convulsions, and pseudobulbar palsy. Similar to two previously reported cases, one of the two affected siblings had severe hypertrophic obstructive cardiomyopathy, hearing loss, and no visual response. Through linkage analysis and whole-exome sequencing, we identified a homozygous p.R217W mutation in Cytochrome C oxidase assembly protein COX15 homolog. Consistent with the known heterogeneity of mitochondrial diseases in general and that of LS in particular, several phenotypic features were markedly distinguished between the affected siblings and in relation to previous reports of COX15 mutations. Interestingly, of the previously reported five cases of COX15-mutated patients, all of different ethnic origins, three had a p.R217W mutation. We highlight p.R217W as a hotspot mutation in COX15 and delineate the phenotypic variability, both between the patients we describe and in all cases reported to date.
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PMID:Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. 3223 62

Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of vertical nystagmus in the evaluation of patients with developmental encephalopathy with epilepsy, which may accelerate the neurological diagnosis process by orientating it towards PIGN-GPIBD.
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PMID:Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects. 3258 29


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