Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 37-year-old female was admitted to our hospital because of progressive dementia and gait disturbance. She was healthy until 34 years of age when she had difficulty in walking and memory disturbance with personality changes. At age 36, she developed urinary incontinence and dementia. The neurological examination demonstrated euphoric mental state, emotional incontinence, severe dementia, paraplegia, dysmetria, choreic movements in both arms and urinary incontinence. Diffuse hyperreflexia and bilateral Babinski signs were observed. Routine laboratory examination showed slightly increased erythrocyte sedimentation rate and alkaline phosphatase. Electroencephalogram revealed diffuse irregular slow waves. X-ray film of the ulnar bone revealed osteoporotic and cystic lesions. The biopsy of the left tibial bone showed a specific membranous cystic structure. Computerized tomography (CT) of the brain showed symmetric, diffuse low density areas in the cerebral white matter and severe atrophy of the cerebellum. T2-weighted magnetic resonance imaging (MRI) revealed diffuse high intensity areas in the cerebral white matter. The present case is characterized by diffuse changes in cerebral white matter and cerebellar atrophy, which have been never reported in Nasu-Hakola disease. The diffuse cerebral white matter changes shown by CT and MRI appear to indicate that this patient is the first case of leukodystrophy of sudanophilic type since the original case reported by Nasu et al.
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PMID:[A case of membranous lipodystrophy (Nasu) with diffuse cerebral white matter involvement and cerebellar atrophy on brain CT and MRI]. 208 28

Twenty consecutive female patients with urge incontinence and stable detrusor function on provocative rapid fill CO2-cystometry were treated as out-patients with a bladder training programme and with terodiline/placebo in a double-blind cross-over design. Frequency and incontinence episodes decreased significantly, while first sensation and cystometric bladder capacity increased. Both objectively and subjectively terodiline was significantly better than placebo with 50% (95% confidence limits 18-82) more patients improved on terodiline than on placebo. Thirty percent of the patients (95% confidence limits 12-54) relapsed after withdrawal of terodiline. At 3 months follow-up the remaining 70% were satisfied with the outcome of the training programme. Side effects were mild and reversible. Serum creatinine and alkaline phosphatase increased slightly on terodiline and the diastolic blood pressure was probably also increased by terodiline. In conclusion, female patients with idiopathic urge incontinence and stable detrusor function did respond to treatment as do female patients with urge incontinence and proven instability.
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PMID:Bladder training and terodiline in females with idiopathic urge incontinence and stable detrusor function. 370 68

Within 1 year six elderly patients (aged 80-89 years) were admitted because of non-specific deterioration in mental or physical well-being. In no instance was hepatobiliary disease suspected at the time of hospital admission. One patient presented with intermittent confusion only. The other five were referred with "falls" or having "gone off legs", with malaise, confusion, or incontinence. All had raised alkaline phosphatase levels of 159-1230 IU/l, which led to investigation of the biliary tree. At endoscopic retrograde cholangiopancreatography all were shown to have biliary disease (three common duct stones, one gallbladder calculus, one an abscess, and one a widely dilated common bileduct ). With appropriate treatment (endoscopic sphincterotomy for two, surgery for two, and antibiotics alone for two), all showed a gratifying return of mobility and mental function. Biliary disease is a treatable cause of chronic ill health in the elderly and should be excluded, even in the absence of "classical" symptoms, when there is abnormal liver function.
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PMID:Gallstones presenting as mental and physical debility in the elderly. 614 85

The patient, a 78-year-old female with history of headache and progressive gait disturbance for almost one year, was admitted to our department because of dysphagia and dysphonia since three months before. Neurological examination revealed nystagmus, cerebellar ataxia, deafness, and vesical incontinence. No cerebral injuries were detected by computed tomography (CT) scan, although Paget's. Disease of Bone (PDB) was suggested, confirmed by biochemical and scintigraphic studies. The plain skull X-ray showed platybasia. As all the disarrangements were not explained by PDB complications alone, nuclear magnetic resonance imaging (MRI) was performed which demonstrated an Arnold-Chiari malformation (ACM) type I, with mild tonsillar herniation and anterior compression of the brainstem due to basilar impression, without syringomyelia. The association of PDB and ACM is a peculiarity seldom reported. The surgical approach was rejected, but the severity of symptoms and osteitis deformans biochemical activity needed a treatment; it was orientated to modify bone turnover using etidronate, a bisphosphonate, which induced clinical improvement and a decrease in serum alkaline phosphatase as well as in other bone resorption markers, without side effects. The good status and biochemical remission have been maintained a year later.
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PMID:[Paget's disease of bone and basilar impression associated with an Arnold-Chiari type-1 malformation]. 942 43

A 34-year-old woman, after 2 weeks of treatment with phenytoin and amitriptyline, developed fever and cutaneous lesions consisting of a generalized maculopapular rash and eosinophilia. Her biochemical data showed abnormal liver functions with increased levels of SGOT, SGPT, LDH, gamma-glutamyl transpeptidase and alkaline phosphatase. The skin biopsy pattern was compatible with phenytoin drug eruption of the erythemamultiforme-like type (lymphocytic exocytosis, isolated dyskeratotic cells, vacuolation of basal cells and incontinence of pigment). The patch tests were positive with phenytoin (patch test biopsy showed a typical eczematous pattern). The patch test with amitriptyline was negative. An oral challenge with amitriptyline showed an erythematous maculopapular rash. The challenge with phenytoin was not carried out because the previously abnormal liver function tests contraindicated the challenge. Although there are a few cases reported, the patch tests could be useful for diagnosing phenytoin allergy. Cross-reactivity between phenytoin and amitriptyline is possible.
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PMID:Phenytoin hypersensitivity syndrome with positive patch test. A possible cross-reactivity with amitriptyline. 968 95

The goals of this study were to determine whether anal sphincter dysfunction in spina bifida develops during fetal life or after birth and whether it reflects the severity of spina bifida and therefore can be used as a criterion to select the cases that could benefit from in uterosurgery. Total protein and digestive enzyme activities [gamma-glutamyl transpeptidase (GGTP), aminopeptidase M (AMP), and alkaline phosphatase isoenzymes including the intestinal form (iALP)] were assayed retrospectively in amniotic fluid from 80 myelomeningocele spina bifida cases without unrelated associated malformation (gestational age 14-33 wk). A normal enzyme activity profile was observed in 46 of the 80 cases. Two abnormal profiles were observed: 1) bilious vomiting, characterized by abnormally high GGTP and AMP activities but normal iALP, and 2) digestive enzyme leakage, characterized by abnormally high activities of GGTP, AMP, and iALP, typical of anal incontinence. No relation was observed between these enzyme activity profiles and the different secondary signs of spina bifida or the level of the damage. In conclusion, anal sphincter dysfunction in spina bifida revealed by amniotic fluid digestive enzyme activities occurred before 24 wk in fetal life in 28.7% of cases. This criterion may be indicative of the severity of spina bifida and therefore perhaps could be used to select cases that are suited to in utero surgery. It could also be used to establish the potential benefit of this surgery in fecal incontinence.
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PMID:Fetal anal incontinence evaluated by amniotic fluid digestive enzyme assay in myelomeningocele spina bifida. 1618 7