Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old girl with Graves' disease developed a generalized convulsion as a result of hypoglycemia (25 mg/dL). At the time of the hypoglycemic seizure, her plasma adrenocorticotropin (ACTH) level (1460 pg/mL) was extremely high, but her serum cortisol level (28.4 microg/dL) was relatively low given the severe stress. The cortisol-releasing hormone (CRH) provocation test done after thyroid function had improved revealed normal ACTH and cortisol responses. Since there was no other cause of hypoglycemia, such as hyperinsulinemia, long-term starvation, suddenly advanced emaciation, or prolonged fasting, it was suspected that the transient adrenal hyporesponsiveness was the main cause of hypoglycemia.
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PMID:A 3-year-old girl with Graves' disease with hypoglycemia following transient adrenal hyporesponsiveness. 2230 63

A 3-year-old male, hybrid mallard duck (Anas platyrhynchos) was presented with a 2-year history of progressive, ascending paresis and paralysis. On presentation, the bird was in sternal recumbency and displayed intermittent focal seizures and intention tremors. Proprioceptive deficits and absent withdrawal reflexes were observed in both pelvic limbs, wing extension was limited, and reflexes were diminished bilaterally. Other findings included emaciation and dehydration. Results of a complete blood count and plasma biochemical analysis revealed anemia, hypoproteinemia, hypoglycemia, and hyperuricemia. Radiographs were unremarkable and results of an Aspergillus antibody were weakly positive. The duck went into cardiopulmonary arrest and died approximately 1 hour after initiating treatment with intravenous crystalloid fluids. A postmortem diagnosis of neuronal ceroid lipofuscinosis (NCL) was made based on the presence of neuronal granular cytoplasmic material that was autofluorescent and stained with periodic acid-Schiff and Luxol fast blue. To our knowledge, this is only the second case report of NCL in an avian species and the first in waterfowl.
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PMID:Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). 2264 36

Panthothenate kinase-associated neurodegeneration (PKAN) (Hallervorden-Spatz disease) is a rare autosomal recessive chromosomal disorder characterised by progressive neuroaxonal dystrophy. The characteristic features include involuntary movements, rigidity, mental retardation, seizures, emaciation. The anaesthetic concerns include difficult airway, aspiration pneumonia, dehydration, and post-operative respiratory, and renal insufficiency. We report successful anaesthetic management of a 9-year-old intellectually disabled male child with PKAN, scheduled for ophthalmic surgery under general anaesthesia.
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PMID:Anaesthetic management of a child with panthothenate kinase-associated neurodegeneration. 2568 13


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