• Progress in Medical Physics
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• v.14 no.2
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• pp.108-123
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• 2003

The purpose of this study is to evaluate the contribution of $^{18}$ F-FDG brain PET in the differentiating Idiopathic parkinson's diesease (IPD), progressive supranuclear palsy (PSP), and multiple system atrophy (MSA). We studied 24 patients with parkinsonism : 8 patients (mean age 67.9$\pm$10.7 y: M/F : 3/5) with IPD, 9 patients (57.9$\pm$9.2 y : M/F : 4/5) with MSA and 7 patients (67.6$\pm$4.8 y : M/F 3/4) with PSP. All patients with parkinsonism and 22 age-matched normal controls underwent $^{18}$ F FDG PET in 3D mode after the injection of 370 MBq $^{118}$ F FDG. The patients with IPD, MSh and PSP were compared with a normal control group by a two-sided t-test of SPM99 (uncorrected P<0.001, extent threshold>100 voxel). All three parkinsonism groups, showed significant hypometabolism in the cerebral neocortex compared to the normal control group. However, the three groups displayed different metabolism in the subcortical structure, brain stem, and cerebellum. In IPD, there was no significant hypometabolism in the putamen, brain stem and cerebellum. However, MSA patients showed significant hypometabolism in the striatum, pons, and cerebellum compared to the normal controls and IPD patients. In addition, PSP showed significant hypometabolism in the caudate nuclei, the thalamus, midbrain, and the cingulate gyrus compared to the normal controls, the IPD, and MSA groups (IPD vs Normal sensitivity/specificity : 75%/l00%, MSA vs Normal sensitivity/specificity :100%/87%, PSP vs Normal sensitivity/specificity : 86%/94%). Our results show that the regional metabolism of IPD, MSA, and PSP is different mainly in the striatum, thalamus, brain stem and cerebellum. An assessment of the $^{18}$ F-FDG PET scan images using SPM may be a useful adjunct to a clinical examination in making a differential diagnosis of Parkinsonism.

• Investigative Magnetic Resonance Imaging
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• v.2 no.1
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• pp.14-30
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• 1998

Manganese is an essential element in the body. It is mainly deposited in the liver and to a lesser degree in the basal ganglia of the brain and eliminated through the bile duct. Rapid turnover of managanese in the body makes it difficult to evaluate the manganese exposure in workers, esecially in those with irregular or intermittent exposure, like welders. Therefore, conventional biomarkers, including blood and urine manganese can provide only a limited information about the long-tern or cumulative exposure to manganese. Introduction of magnetic resonance imaging (MRI) made a progress in the assessment of manganese exposure in the medical conditions related to manganese accumulation, e. g. hepatic failure and long-term total parenteral nutrition. Manganese shortens spin-lattice(T1) relaxation time on MRI due to its paramagnetic property, resulting in high signal intensity (HSI) on T1-weighted image(T1W1) of MRI. Manganese deposition in the brain, therefore, can be visualizedas an HSI in the globus pallidus, the substantia nigra, the putamen and the pituitary. clinical and epidemiologic studies regarding the MRI findings in the cases of occupational and non-occupational manganese exposure were reviewed. relationships between HSI on T1W1 of MRI and age, gender, occupational manganese exposure, and neurological dysfunction were analysed. Relationships betwen biological exposure indices and HSI on MRE werealso reviewed. Literatures were reviewed to establish the relationships between HSI, Manganese deposition in the brain, pathologic findings, and neurological dysfunction. HSI on T1W1 of MRI reflects regional manganese deposition in the brain. This relationship enables an estimation of regional manganese deposition in the brain by analysing MR signal intensity. Manganese deposition in the brain can induce a neuronal loss in the basal ganglia but functional abnormality is supposed to be related to the cumulative exposure of manganese in the brain, use of brain MRI for the assessment of exposure in a group of workers seems to be hardly rationalized, while ti can be a useful adjunct for the evaluation of manganese exposure int he cases with suspected manganese-related health problems.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Sleep Medicine and Psychophysiology
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• v.5 no.1
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• pp.54-70
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• 1998

Objectives : The purpose of this study is to evaluate the role of structural and functional changes of the brain in the pathophysiology of schizophrenia. Methods : The authors measured the regions of interest on the magnetic resonance imaging of the brain in 20 patients with paranoid schizophrenia(15 men and 5 women) and 23 control subjects(15 men and 8 women). We also assessed the neurocognitive functions with the Wisconsin Card Sorting Test, the Benton Neuropsychological Assessment, and the Weschler IQ test-Korean version, soft neurologic signs, and psychiatric symptoms in the patient group. Results : In the patient group, all ventricles and basal ganglia including caudate nucleus and globus pallidus were significantly enlarged. Although there were no significant differences between the two groups in the values of right frontal lobe and left temporal lobe, there was a tendency of decrease in the values of right frontal lobe and left temporal lobe. There were significant positive correlations between the values of ventricles and the frequency of previous hospitalization. However, there were no significant correlations between other values of regions of interest and clinical data. The value of the right frontal lobe was significantly correlated with the score of soft neurologic signs, which is suggestive of the neurodevelopmental abnormalities. There were significant correlations between the value of frontal lobe and the scores of the various subscales of Benton Neuropsychiatric Inventory. In contrast, the value of left amygdala and putamen showed significant correlation with the score of verbal IQ on the Weschler IQ test. Structural changes of the temporal lobe areas were related with the positive and general symptom scores on PANSS, while those of the basal ganglia were related with the negative symptom scores. Conclusions : These results suggest that the structural changes of the brain in the patients with schizophrenia show the dual process, which is suggestive that the enlarged ventricle show the neurodegenerative process, while enlarged basal ganglia, and shrinked right frontal and left temporal lobe show the neurodevelopmental abnormalities. Among these changes, structural changes of the frontal lobe related with various neuropsychological deficits, while those of left temporal lobe related with language abnormality. Relative to the relation between structural changes and psychiatric symptoms, structural changes of the temporal lobe areas were related with the positive and general symptoms, while those of the basal ganglia were related with the negative symptoms.