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 Japanese woman, aged 42, was admitted because of paroxysmal attacks consisting of paresthesia of the left face, tremor in the right hand, epigastric pain and urinary incontinence. A year prior to the admission, she noticed some difficulty in writing, dysarthria and unsteadiness of walking. These symptoms had been persistent since then. At the end of March, 1991, these symptoms rapidly worsened, and she fell down frequently. She also experienced pain behind both eyes, numbness in her left fingers and toe, urinary frequency and the above-mentioned attacks. Neurological examination disclosed bilateral internuclear ophthalmoplegia and upbeating nystagmus on upward gaze, titubation in the head, scanning speech, dysmetria in all limbs, exaggerated reflexes in jaw and both legs, bilateral extensor plantar reflexes and ankle clonus. SEP showed delayed cortical response with stimulation of the median nerves bilaterally and of the right posterior tibial nerve. P40 was absent with the left posterior tibial nerve stimulation. VEP was normal. T2-weighted image of MRI showed multiple high intensity areas located around the third ventricle, crus cerebri and the right upper part of the pons. The diagnosis of multiple sclerosis was made. Each paroxysmal attack started with numbness in the left face and burning sensation in the neck. Almost simultaneously tremor in the right hand began. The surface EMG showed the rhythmic contractions in the dorsal hand muscles and wrist extensors at a frequency of 6-7 Hz, and sometimes it revealed synchronized contractions of finger flexors and the dorsal hand muscles. A few seconds later she felt painful sensation in the epigastric region, and the tremor gradually increased in its intensity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of multiple sclerosis with paroxysmal attacks of facial paresthesia, unilateral hand tremor, epigastric pain and urinary incontinence]. 162 36

The patient was a 49-year-old woman. Since her age of 42, she noticed a proximal weakness of both legs. She also experienced pedal paresthesia and urinary frequency. Physical examination disclosed a diffuse goiter and bilateral Babinski sign. Results of EMG and muscle pathology were compatible with the diagnosis of polymyositis. Treatment with prednisolone improved muscle weakness, urinary difficulties and struma. 7 years later, HTLV-I antibody happened to be strongly positive both in serum and CSF. Then most of her neurological problems were attributed to HAM. However, recent studies of re-biopsy muscle specimens disclosed scattered necrotic fibers, phagocytosis and endomysial or perivascular infiltration of inflammatory cells. These infiltrating cells were classed mostly as helper/inducer T cells. These observations suggested the coexistence of polymyositis in the present case as well. So far, the combination of HAM and polymyositis has not been reported. It seems important to decide if HTLV-I could induce chronic polymyositis as in the case of HIV infections.
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PMID:[HTLV-I associated myelopathy (HAM) complicated with chronic polymyositis]. 274 79

Twenty-four hours after the ingestion of black grouper, lower-extremity paresthesias, left retrobulbar pain, pruritus, diarrhea, and urinary frequency developed in a 57-year-old woman. Over a three-month period, her symptoms gradually resolved completely. A review of the systemic and neuro-ophthalmologic manifestations of ciguatera poisoning is presented.
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PMID:The neuro-ophthalmologic signs of ciguatera poisoning: a case report. 377 54

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

We document a case of 61-year-old woman with a 24 year history of rheumatoid arthritis (RA), who developed severe polyarthralgia, dry cough, paresthesia in the legs, frequent micturition, and severe macrohematuria. We diagnosed as severe RA with extraarticular manifestations based on interstitial pneumonia, mononeuritis multiplex, subcutaneous nodules, and high titer of rheumatoid factor. Ultrasonography demonstrated an intravesical mass lesion. A histological examination of the urinary bladder by endoscopic biopsy revealed marked deposition of AA amyloid. The diagnosis of secondary amyloidosis and bacterial cystitis were made based on histological findings and urine culture. At first, we administered antibiotics by intravenous infusion, which resulted in cure of cystitis and partial improvement of macrohematuria. Then combination therapy of corticosteroids and cyclophosphamide successfully reduced the disease activity of RA. There have only been a few reports published so far on the vesical amyloidosis in patients with RA. However, 5 of 10 patients (50%) in vesical amyloidosis died because of continuous massive hematuria, which induced disseminated intravascular coagulation and multiple organ failure. In conclusion, secondary amyloidosis of the urinary bladder should be considered as a possible cause of hematuria in patients with long-term RA and as an important prognosis factor of RA.
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PMID:[A case of rheumatoid arthritis with secondary amyloidosis in urinary bladder]. 1216 17

Ventral spinal tumors are surgically challenging because the tumor resection should minimize spinal cord and nerve root manipulation to minimize morbidity, while providing access to a complete tumor resection. The CO2 laser has been useful in resection of central nervous system tumors, but little is described about the method used to resect spinal tumors.1 This video demonstrates the removal of a ventral cervical spinal meningioma using the CO2 laser. A 62-yr-old man presented with progressive paresthesias, gait instability, and urinary frequency. A 1-cm intradural extramedullary mass at C5 showed severe spinal cord compression. Patient consent was obtained prior to performing the procedure. A posterior lateral approach is shown, with a bone removal corridor created at C5 for accessing the tumor ventrally. A right-sided facetectomy and pediculectomy at C5 were performed being flush with the posterior vertebral body. A dural opening positioned laterally provided a working corridor between C5 and C6 nerve rootlets. Lateral portions of tumor were excised in wedge-shaped slices starting laterally and working medially. These slices created a successive and enlarging space to safely allow piecemeal tumor dissection and removal, while limiting retraction upon the spinal cord. The CO2 laser was used to cauterize the tumor capsule, create wedge resections of tumor, and coagulate the final dural attachment. The pathology was a meningioma WHO Grade I. The patient did well, with resolution of parasthesias and ataxia. The CO2 laser technique allowed for limited spinal cord retraction throughout the tumor resection and gross total resection of the tumor was achieved.
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PMID:Use of Intraoperative CO2 Laser for the Resection of a Ventral Intradural Extramedullary Cervical Spinal Tumor: 2-Dimensional Operative Video. 3150 83