Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677481 (urinary frequency)
 1,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 54-year-old woman presented with progressive gait imbalance and increased urinary frequency, associated with spinal arachnoiditis. The symptoms started after the occurrence of communicating hydrocephalus as a sequel of subarachnoid haemorrhage (SAH), and were initially attributed to post-SAH vasospasm, decompensating hydrocephalus and/or periventricular leuko-encephalopathy. Further clinical deterioration led to the diagnosis of thoracic spinal arachnoiditis, as a second complication of SAH.
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PMID:Chronic spinal arachnoiditis following intracranial subarachnoid haemorrhage. 255 97

A 63-year-old white man of Ecuadorian origin had a subarachnoid hemorrhage at age 57 followed by numbness and paresthesia in his lower extremities. He subsequently developed sexual impotence, alternating constipation and diarrhea, urinary frequency, and difficulty in walking. Rectal biopsy revealed amyloid deposits immunohistochemically reactive with antitransthyretin antisera. Direct DNA sequencing of the transthyretin gene of the patient showed a trinucleotide deletion in exon 4. This deletion resulted in the loss of one of two valines at position 121 or 122. DNA analysis on 11 family members at risk revealed four mutant gene carriers. Plasma transthyretin levels in the mutant gene carriers measured by nephelometry were very low. Peptide sequence analysis revealed that most of plasma transthyretin was normal with only a small amount of variant protein. This is the first report of a DNA deletion in the transthyretin gene. We speculate that the loss of valine in the carboxyl terminal region of the transthyretin monomer alters stability of the tetrameric protein, which leads to rapid clearance from the plasma and amyloid deposition in the tissue.
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PMID:A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy. 919 84