• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1389-1396
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• 2002

Purpose : This study was done to analyze the changes in the clinical conditions and the diagnosis of hypertrophic pyloric stenosis. Methods : We report a retrospective clinical analysis of 39 patients with hypertrophic pyloric stenosis from Jan. 1992 to Aug. 2001. The age and sex distribution, family and birth history, clinical symptoms, the ultrasonographic and the operative sizes of pyloric canals were compared. Results : The body weight was below the 3 percentile at admission in eight cases(20.5%). "Olive like mass" in right upper quadrant was palpated during physical examination in 23 cases(59%) and gastric peristaltic wave observed in six cases(15%). The ultrasonographic measurements showed that the pyloric muscle thickness to be $4.95{\pm}0.99mm$($mean{\pm}SD$), pyloric diameter $14.42{\pm}2.64mm$, and pyloric length $20.17{\pm}3.92mm$. Fredet-Ramstedt pyloromyotomy was employed in all cases. The operative measurements of the pyloric muscle thickness was $5.11{\pm}1.01mm$, pyloric diameter $15.01{\pm}2.47mm$, and pyloric length $22.32{\pm}3.43mm$. Conclusion : There was no significant difference between the ultrasonographic and operative measurements. Currently, the hypertrophic pyloric stenosis patients showed lesser clinical hallmarks of the disease. The earlier diagnosis using imaging studies before development of significant metabolic abnormalities is becoming an important factor that change the future outcomes of hypertrophic pyloric stenosis.

• Nuclear Medicine and Molecular Imaging
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• v.43 no.5
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• pp.402-410
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• 2009

Purpose: The aim of this study was to determine the incidence and malignant rate of incidental asymmetric palatine tonsillar uptake (ATU) on $^{18}F$-FDG PET/CT in various clinical indications and to evaluate the clinical and PET/CT findings suggesting malignancy. Materials and Methods: We retrospectively reviewed a total of 2,901 patients ($58.4{\pm}12.3$ yrs, range 20~88 yrs, M:F = 1,841:1,060) who underwent $^{18}F$-FDG PET/CT during an 1-year period with various indications except primary tonsillar cancer and lymphoma evaluation. On $^{18}F$-FDG PET/CT, metabolic abnormality of the palatine tonsil and cervical lymph node were visually assessed. ATU was defined as increased palatine tonsillar uptake with diffuse, focal, or irregular pattern compared to contralateral side. The incidence and malignant ratio of ATU were evaluated according to clinical and PET/CT findings. Results: Of 2,901 cases, 290(10,0%) showed ATU. The incidence of ATU showed seasonal variation and was high in the winter (12.1%). Of 209 cases with ATU confirmed pathologically and/or clinically, five (2.4%) were malignant lesions. ATU with irregular uptake pattern (2/2) and in cases referred for cervical lymph node metastasis of unknown origin (3/5) were frequently associated with malignant lesion (p<0.05). Conclusion: ATU was not infrequently observed on $^{18}F$-FDG PET/CT, and the malignant risk of ATU was low. However, ATU with cervical lymph node metastasis or with irregular pattern on PET/CT would be further evaluated by the histopathologic examination.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.72-79
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• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.