Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41-year-old female patient with mental retardation and generalized epileptic seizure had a nonmosaic idic (X) (pter-q21.32::q21.32-pter) chromosome in peripheral lymphocytes and bone marrow cells. Primary amenorrhea, myelodysplastic syndrome, pigmented nevi and characteristic facial appearance were also observed. A few cases with the nonmosaic idic (X) (q::q) with various breakpoints reported previously commonly showed ovarian failure with dysfunction of relevant hormone. CNS abnormalities of the present case were demonstrated by CT, MRI and SPECT using 123I-IMP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).
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PMID:Neuropsychiatric disturbances in a patient with a nonmosaic isodicentric (X) (q21.32) chromosome. 212 33

N-isopropyl-p[123I]iodoamphetamine (123I-IMP) SPECT and regional cerebral blood flow (rCBF) studies were performed in 20 patients with Parkinson's disease (PD) and 8 normal subjects. RCBF was measured by the arterial blood sampling method which used the microsphere model. We analyzed seven factors which might be related to the rCBF in PD, i.e., age, stage, duration of the disease, cerebral atrophy, severity of dementia, laterality of symptoms and motor disability score (MDS; the degree of akinesia, rigidity, tremor, gait disturbance, freezing and pulsion sign). Compared with normal subjects, global CBF (supratentorial mean rCBF) was reduced 21.8% in PD. In particular, rCBF in the basal ganglia and that of frontal cortex were reduced 25.3%, 24.8%, respectively. Distribution patterns of rCBF in PD were almost as same as those in normals except for cerebellum. The reduction of both rCBFs in the basal ganglia and parietal cortex significantly correlated with MDS (p less than 0.05, respectively). Especially, akinesia was closely correlated to the reduction of rCBF in the parietal cortex (p less than 0.02). Moreover, we observed a significant relationship between cerebral atrophy and reduction of rCBF in each region except for cerebellum. However, there was no significant correlation between the severity of dementia and reduction of rCBF, even in the frontal cortex or parietal cortex. These data show that the severity of dementia in PD may be connected with other factors except for rCBF. 123I-IMP SPECT study is a useful method for clinical evaluation of PD.
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PMID:[Clinical evaluation of Parkinson's disease using 123I-IMP SPECT]. 261 27