1.Three cases of Watson-Alagille syndrome.
Eun Kyeong BOM ; Dae Hyun KIM ; Dong Hoon KOH ; Young Youn CHOI ; Jae Sook MA ; Tae Ju HWANG
Journal of the Korean Pediatric Society 1991;34(12):1699-1706
No abstract available.
Jaundice
2.The Discriminating Nature of Dopamine Transporter Image in Parkinsonism: The Competency of Dopaminergic Transporter Imaging in Differential Diagnosis of Parkinsonism: 123I-FP-CIT SPECT Study.
Bom Sahn KIM ; Sung June JANG ; Jae Seon EO ; Eun Kyung PARK ; Yu Kyeong KIM ; Jong Min KIM ; Won Woo LEE ; Sang Eun KIM
Nuclear Medicine and Molecular Imaging 2007;41(4):272-279
PURPOSE: The aim of this study was to evaluate the discriminating nature of 123I-FP-CIT SPECT in patients with parkinsonism. METHODS: 123I-FP-CIT SPECT images acquired from the 18 normal controls; NC (60.4+/-10.0 yr) and 237 patients with parkinsonism (65.9+/-9.2 yr) were analyzed. From spatially normalized images, regional counts of the caudate, putamen, and occipital lobe were obtained using region of interest method. Binding potential (BP) was calculated with the ratio of specific to nonspecific binding activity at equilibrium. Additionally, the BP ratio of putamen to caudate (PCR) and asymmetric index (ASI) were measured. RESULTS: BPs of NC (3.37+/-0.57, 3.10+/-0.41, 3.23+/-0.48 for caudate, putamen, whole striatum, respectively) had no significant difference with those of essential tremor; ET (3.31+/-0.64, 3.06+/-0.61, 3.14+/-0.63) and Alzheimer's disease; AD (3.33+/-0.60, 3.29+/-0.79, 3.31+/-0.70), but were higher than those of Parkinson's disease; PD (1.92+/-0.74,1.39+/-0.68, 1.64+/-0.68), multiple system atrophy; MSA (2.36+/-1.07, 2.16+/-0.91, 2.26+/-0.96), and dementia with Lewy body; DLB (1.95+/-0.72, 1.64+/-0.65, 1.79+/-0.66)(p<0.005). PD had statistically lower values of PCR and higher values of ASI than those of NC (p<0.005). And PD had significantly lower value of PCR, higher ASI and lower BP in the putamen and whole striatum than MSA (p<0.05). CONCLUSION: Dopamine transporter image of 123I-FP-CIT SPECT was a good value in differential diagnosis of parkinsonism.
Alzheimer Disease
;
Dementia
;
Diagnosis, Differential*
;
Dopamine Plasma Membrane Transport Proteins*
;
Dopamine*
;
Essential Tremor
;
Humans
;
Lewy Bodies
;
Multiple System Atrophy
;
Occipital Lobe
;
Parkinson Disease
;
Parkinsonian Disorders*
;
Polymerase Chain Reaction
;
Putamen
;
Tomography, Emission-Computed, Single-Photon*
3.The Discriminating Nature of Dopamine Transporter Image in Parkinsonism: The Competency of Dopaminergic Transporter Imaging in Differential Diagnosis of Parkinsonism: 123I-FP-CIT SPECT Study.
Bom Sahn KIM ; Sung June JANG ; Jae Seon EO ; Eun Kyung PARK ; Yu Kyeong KIM ; Jong Min KIM ; Won Woo LEE ; Sang Eun KIM
Nuclear Medicine and Molecular Imaging 2007;41(4):272-279
PURPOSE: The aim of this study was to evaluate the discriminating nature of 123I-FP-CIT SPECT in patients with parkinsonism. METHODS: 123I-FP-CIT SPECT images acquired from the 18 normal controls; NC (60.4+/-10.0 yr) and 237 patients with parkinsonism (65.9+/-9.2 yr) were analyzed. From spatially normalized images, regional counts of the caudate, putamen, and occipital lobe were obtained using region of interest method. Binding potential (BP) was calculated with the ratio of specific to nonspecific binding activity at equilibrium. Additionally, the BP ratio of putamen to caudate (PCR) and asymmetric index (ASI) were measured. RESULTS: BPs of NC (3.37+/-0.57, 3.10+/-0.41, 3.23+/-0.48 for caudate, putamen, whole striatum, respectively) had no significant difference with those of essential tremor; ET (3.31+/-0.64, 3.06+/-0.61, 3.14+/-0.63) and Alzheimer's disease; AD (3.33+/-0.60, 3.29+/-0.79, 3.31+/-0.70), but were higher than those of Parkinson's disease; PD (1.92+/-0.74,1.39+/-0.68, 1.64+/-0.68), multiple system atrophy; MSA (2.36+/-1.07, 2.16+/-0.91, 2.26+/-0.96), and dementia with Lewy body; DLB (1.95+/-0.72, 1.64+/-0.65, 1.79+/-0.66)(p<0.005). PD had statistically lower values of PCR and higher values of ASI than those of NC (p<0.005). And PD had significantly lower value of PCR, higher ASI and lower BP in the putamen and whole striatum than MSA (p<0.05). CONCLUSION: Dopamine transporter image of 123I-FP-CIT SPECT was a good value in differential diagnosis of parkinsonism.
Alzheimer Disease
;
Dementia
;
Diagnosis, Differential*
;
Dopamine Plasma Membrane Transport Proteins*
;
Dopamine*
;
Essential Tremor
;
Humans
;
Lewy Bodies
;
Multiple System Atrophy
;
Occipital Lobe
;
Parkinson Disease
;
Parkinsonian Disorders*
;
Polymerase Chain Reaction
;
Putamen
;
Tomography, Emission-Computed, Single-Photon*
4.Evaluation of Multiple System Atrophy and Early Parkinson's Disease Using (123)I-FP-CIT SPECT.
So Won OH ; Yu Kyeong KIM ; Byung Chul LEE ; Bom Sahn KIM ; Ji Sun KIM ; Jong Min KIM ; Sang Eun KIM
Nuclear Medicine and Molecular Imaging 2009;43(1):10-18
PURPOSE: We investigated quantification of dopaminergic transporter (DAT) and serotonergic transporter (SERT) on (123)I-FP-CIT SPECT for differentiating between multiple systemic atrophy (MSA) and idiopathic Parkinson's disease (IPD). MATERIALS AND METHODS: N-fluoropropyl-2beta-carbomethoxy-3beta-4-[(123)I]-iodophenylnortropane SPECT ((123)I-FP-CIT SPECT) was performed in 8 patients with MSA (mean age: 64.0+/-4.5yrs, m:f=6:2), 13 with early IPD (mean age: 65.5+/-5.3yrs, m:f=9:4), and 12 healthy controls (mean age: 63.3+/-5.7yrs, m:f=8:4). Standard regions of interests (ROIs) of striatum to evaluate DAT, and hypothalamus and midbrain for SERT were drawn on standard template images and applied to each image taken 4 hours after radiotracer injection. Striatal specific binding for DAT and hypothalamic and midbrain specific binding for SERT were calculated using region/reference ratio based on the transient equilibrium method. Group differences were tested using ANOVA with the postHoc analysis. RESULTS: DAT in the whole striatum and striatal subregions were significantly decreased in both patient groups with MSA and early IPD, compared with healthy control (p<0.05 in all). In early IPD, a significant increase in the uptake ratio in anterior and posterior putamen and a trend of increase in caudate to putamen ratio was observed. In MSA, the decrease of DAT was accompanied with no difference in the striatal uptake pattern compared with healthy controls. Regarding the brain regions where (123)I-FP-CIT binding was predominant by SERT, MSA patients showed a decrease in the binding of (123)I-FP-CIT in the pons compared with controls as well as early IPD patients (MSA: 0.22+/-0.1 healthy controls: 0.33+/-0.19, IPD: 0.29+/-0.19), however, it did not reach the statistical significance. CONCLUSION: In this study, the differential patterns in the reduction of DAT in the striatum and the reduction of pontine (123)I- FP-CIT binding predominant by SERT could be observed in MSA patients on (123)I- FP-CIT SPECT. We suggest that the quantification of SERT as well as DAT using (123)I- FP-CIT SPECT is helpful to differentiate parkinsonian disorders in early stage.
Atrophy
;
Brain
;
Dopamine Plasma Membrane Transport Proteins
;
Humans
;
Hypothalamus
;
Mesencephalon
;
Multiple System Atrophy
;
Parkinson Disease
;
Parkinsonian Disorders
;
Pons
;
Putamen
;
Serotonin Plasma Membrane Transport Proteins
;
Tomography, Emission-Computed, Single-Photon
;
Tropanes
5.A case of congenital myotonic dystrophy: Molecular diagnosis and clinical study.
Yon Ju KIM ; Moon Young KIM ; Bom Yi LEE ; Jin Woo KIM ; So Yeon PARK ; Ji Eun KIM ; Dong Chul OH ; Jun Sik HONG ; Hae Kyoung HAN ; Mi Jung KIM ; Yi Kyeong CHUN ; Hye Sun KIM ; Hyun Mee RYU
Korean Journal of Obstetrics and Gynecology 2001;44(12):2302-2306
Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Blotting, Southern
;
Diagnosis*
;
Extremities
;
Female
;
Humans
;
Infant
;
Infant Mortality
;
Live Birth
;
Muscle Hypotonia
;
Myotonic Dystrophy*
;
Polyhydramnios
;
Polymerase Chain Reaction
;
Prenatal Diagnosis
;
Prevalence
;
Untranslated Regions
6.A case of congenital myotonic dystrophy: Molecular diagnosis and clinical study.
Yon Ju KIM ; Moon Young KIM ; Bom Yi LEE ; Jin Woo KIM ; So Yeon PARK ; Ji Eun KIM ; Dong Chul OH ; Jun Sik HONG ; Hae Kyoung HAN ; Mi Jung KIM ; Yi Kyeong CHUN ; Hye Sun KIM ; Hyun Mee RYU
Korean Journal of Obstetrics and Gynecology 2001;44(12):2302-2306
Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Blotting, Southern
;
Diagnosis*
;
Extremities
;
Female
;
Humans
;
Infant
;
Infant Mortality
;
Live Birth
;
Muscle Hypotonia
;
Myotonic Dystrophy*
;
Polyhydramnios
;
Polymerase Chain Reaction
;
Prenatal Diagnosis
;
Prevalence
;
Untranslated Regions