• Childhood Kidney Diseases
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• v.17 no.2
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• pp.73-78
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• 2013

Purpose: We aimed to investigate the clinical characteristics and associated diseases in children with a horseshoe kidney and compared these data between children and adults. Method: We performed a retrospective analysis of the medical records and radiological findings of 43 patients diagnosed with a horseshoe kidney in the Busan Paik Hospital. The subjects were divided into the children's group (14 cases, age <18 years) and the adult group (29 cases, age ${\geq}18$ years). Results: The study group consisted of 17 males and 26 females with a median age of 34 years. In the children's group (14 cases), 5 subjects were male and 9 were female, with a mean age of $6.7{\pm}6.2$ years. Most of the subjects were asymptomatic and were incidentally diagnosed with horseshoe kidney during their evaluation for another disease. Among the associated diseases in the children's group, Turner syndrome was the most common (5 cases), whereas ureteropelvic junction (UPJ) stricture was observed in 2 cases (14.2%). None of the children exhibited abnormal renal function during the follow-up period. In the adult group (29 cases), 12 subjects were male and 17 were female, with a mean age of 48 years. Eighteen patients were incidentally diagnosed with horseshoe kidney during their evaluation for another disease, and 11 patients had hematuria or abdominal pain due to renal stones. Among the associated diseases in the adult group, Turner syndrome was the most common (5 cases), and UPJ stricture was observed in 5 cases; the other accompanying diseases included hydronephrosis and overactive bladder. Six patients exhibited decreased renal function (serum creatinine level >1.5) during the follow-up period. Conclusion: Horseshoe kidney is usually diagnosed incidentally in both children and adults. In the present study, we noted that Turner syndrome was the most common associated disease in children. In addition, most children were asymptomatic but had a high risk of urologic complications after the transition to adulthood. Therefore, children with horseshoe kidney require continuous follow-up.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.38-44
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• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• The Korean Journal of Nuclear Medicine
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• v.39 no.1
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• pp.15-20
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• 2005

Purpose: Physiologic intestinal FDG uptake is frequently observed in asymptomatic individuals for cancer screening FDG PET Colonic FDG accumulation is a well-known confusing findings that interfere true cancer detection or cause false positive. The aim of this study was to evaluate the pattern and intensity of colonic uptake in whole body FDG PET in asymptomatic healthy adults and to correlate them with colonoscopic findings. Materials and Methods: We reviewed retrospectively 64 subjects (age: 27-87, M:F=31:33) who underwent both FDG PET and colonoscopy for cancer screening. FDG uptake patterns were classified as focal, segmental and diffuse. Maximum SUV were measured. The PET results were compared with colonoscopic and histologic findings. Results: In 13 patients FDG bowel uptake was interpreted as focal, in 17 patients as segmental and in 34 patients as diffuse uptake. Six adenomas (17.6%, average diameter=5.0 mm) were found in diffuse pattern, 7 adenomas (41.1%, 5.6 mm) in segmental and 4 adenomas and 1 adenocarcinoma (38.5%, 16.4 mm) in focal uptake pattern. In patients with focal uptake, four were non-adenomatous pathologic lesions (30.8%, 2 intestinal tuberculosis, 2 mucosal ulcer). There is no difference of mean SUV between patients with adenoma and with negative colonoscopic results in each group of intestinal FDG pattern (Diffuse: $1.7{\pm}0.1\;vs.\;1.9{\pm}0.5$, Segmental: $4.8{\pm}3.6\;vs.\;4.2{\pm}1.2$, Focal: $6.5{\pm}4.7\;vs.\;3.5{\pm}1.3$). large adenomas (>1 cm) can be detected more in the focal uptake pattern (4 out of 5) rather than in segmental (1 out of 7) or diffuse uptake (none) and had higher SUV ($6.3{\pm}4.8$) than small adenomas ($3.5{\pm}3.0$) (statistically insignificant). Conclusion: focal FDG uptake is associated more often with large adenoma and other pathologic findings in colonoscopy. Segmental uptake cannot discriminate presence of adenoma from negative results, while diffuse pattern may have more chance to be normal.

• The Korean Journal of Nuclear Medicine
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• v.39 no.1
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• pp.21-25
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• 2005

Purpose: $^{14}C$-urea breath test (UBT) is a non-invasive and reliable method for the diagnosis of Helicobacter pylori (HP) infection. In this study, we evaluated the diagnostic performance of a new and rapid $^{14}C$-UBT (Heliprobe method), which was equipped with $Geiger-M\ddot{u}ller$ counter and compared the results with those obtained by using the conventional method. Materials and Methods: Forty-nine patients with dyspepsia underwent gastroduodenoscopy and $^{14}C$-UBT. A 37 KBq $^{14}C$-urea capsule was administered to patients and breath samples were collected. In Heliprobe method, patients exhaled into a Hellprobe BreathCard for 10 min. And then the activities of the BreathCard were countered using Heliprobe analyzer. In the conventional method, results were countered using liquid scintillation counter. During gastroduodenoscopy, 18 of 49 patients were underwent biopsies. According to these histologic results, we evaluated the diagnostic performance of two different methods and compared them. Also we evaluated the concordant and disconcordant rates between them. Results: In all 49 patients, concordant rate of both conventional and Heliprobe methods was 98% (48/49) and the discordant rate was 2% (1/49). Thirteen of 18 patients to whom biopsies were applied, were found to be HP positive on histologic results. And both Heliprobe method and conventional method classified 13 of 13 HP-positive patients and 5 of 5 HP-negative patients correctly (sensitivity 100%, specificity 100%, accuracy 100%). Conclusion: The Heliprobe method demonstrated the same diagnostic performance compared with the conventional method and was a simpler and more rapid technique.

• The Korean Journal of Nuclear Medicine
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• v.36 no.6
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• pp.344-356
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• 2002

Purpose: RBC blood pool SPECT has been used to diagnose focal liver lesion such as hemangioma owing to its high specificity. However, low spatial resolution is a major limitation of this modality. Recently, ordered subset expectation maximization (OSEM) has been introduced to obtain tomographic images for clinical application. We compared this new modified iterative reconstruction method, OSEM with conventional filtered back projection (FBP) in imaging of liver hemangioma. Materials and Methods: Sixty four projection data were acquired using dual head gamma camera in 28 lesions of 24 patients with cavernous hemangioma of liver and these raw data were transferred to LINUX based personal computer. After the replacement of header file as interfile, OSEM was performed under various conditions of subsets (1,2,4,8,16, and 32) and iteration numbers (1,2,4,8, and 16) to obtain the best setting for liver imaging. The best condition for imaging in our investigation was considered to be 4 iterations and 16 subsets. After then, all the images were processed by both FBP and OSEM. Three experts reviewed these images without any information. Results: According to blind review of 28 lesions, OSEM images revealed at least same or better image quality than those of FBP in nearly all cases. Although there showed no significant difference in detection of large lesions more than 3 cm, 5 lesions with 1.5 to 3 cm in diameter were detected by OSEM only. However, both techniques failed to depict 4 cases of small lesions less than 1.5 cm. Conclusion: OSEM revealed better contrast and define in depiction of liver hemangioma as well as higher sensitivity in detection of small lesions. Furthermore this reconstruction method dose not require high performance computer system or long reconstruction time, therefore OSEM is supposed to be good method that can be applied to RBC blood pool SPECT for the diagnosis of liver hemangioma.

• The Korean Journal of Nuclear Medicine
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• v.34 no.4
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• pp.276-284
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• 2000

Purpose: We investigated the operative outcome after bypass surgery in patients selected using viability criteria on F-18 FDG PET. Materials and Methods: Rest-24hr delay redistribution imaging of Tl-201 SPECT and F-18 FDG PET were performed in 11 patients. Seven of these 11 patients (6 men, 1 woman) were evaluated to have viable myocardium by F-18 FDG PET. Changes in symptoms and left ventricular ejection fraction (LVEF) after operation were evaluated. Results: In seven of 11 patients, a significant amount of viable myocardium was found on F-18 FDG PET and Tl-201 SPECT. Severity of both chest pain and dyspnea improved markedly in all patients. Mean LVEF improved from 22% to 32%. Conclusion: F-18 FDG PET could be used to select the patients who will benefit from coronary artery bypass surgery.

• The Korean Journal of Nuclear Medicine
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• v.33 no.4
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• pp.398-404
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• 1999

Purpose: Diabetic nephropathy is the most common cause of end stage renal disease and the incidence is progressively increasing. The aim of this study was to investigate the differences of $^{99m}Tc$-DMSA renal uptake among diabetic patients with normoalbuminuria, microalbuminuria and overt proteinuria, and then to determine the clinical usefulness of $^{99m}Tc$-DMSA in predicting early diabetic nephropathy Materials and Methods: $^{99m}Tc$-DMSA scan was performed and a total renal uptake of $^{99m}Tc$-DMSA was measured in 145 diabetic patients. Patients were divided into 3 groups according to the amount of 24 hour urinary albumin excretion as Group I (normoalbuminuria, 74 cases), Group II (microalbuminuria, 39 cases), and Group III (overt proteinuria, 32 cases). The differences of $^{99m}Tc$-DMSA renal uptake among the 3 groups and the correlation between the renal uptake of $^{99m}Tc$-DMSA and other clinical parameters were analyzed. Results: The total renal uptake of $^{99m}Tc$-DMSA of Group II ($40.8{\pm}11.0%$) was significantly lower than that of Group I ($54.4{\pm}6.3%$, p<0.001). The uptake of Group III ($27.7{\pm}12.0%$) was significantly lower than those of both Group I and Group II (p<0.001). $^{99m}Tc$-DMSA total renal uptakes correlated negatively with serum creatinine level (r=-0.629, p<0.001) and positively correlated with creatinine clearance rate (r=0.102, p<0.001). Conclusion: $^{99m}Tc$-DMSA total renal uptake of diabetic patients with microalbuminuria was significantly decreased compared with that of patients of normoalbuminuria. Therefore, $^{99m}Tc$-DMSA scan can be used as a diagnostic study for early detection of the diabetic nephropathy.

• The Korean Journal of Nuclear Medicine
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• v.33 no.4
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• pp.405-412
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• 1999

Purpose: It is important to evaluate the healing process of avascular necrosis (AVN) involving femoral head after treatment. The purpose of this study was to assess the usefulness of pinhole bone scintigraphy in the AVN of femoral head after surgery. Materials and Methods: We analyzed the changing pattern of pinhole bone scintigram in 21 femoral heads of 16 patients (14 lesions/11 male, 7 lesions/5 female, mean age: 39.4 yrs) before and after multiple drilling or vascularized bone grafting for AVN of the femoral head. In all patients, pre-operative scintigrams were obtained at 1 to 3 months before treatment and the first post-operative scintigrams were obtained at 1 to 3 months after treatment. All patients were followed for 2 to 4 years after operation. Results: The findings of the pinhole scintigrams were divided into three patterns: 1) curvilinear, 2) scattered spotty and 3) undetermined. The 10 of 11 lesions with curvilinear pattern had good postoperative clinical and radiological follow-up findings. However, all 6 lesions with scattered spotty pattern showed poor postoperative findings, which necessitated total hip joint replacement. Of the 4 lesions with undetermined pattern, 2 required total hip joint replacement. There was significant difference in postoperative prognosis between the curvilinear and scattered spotty patterns (p<0.05). Conclusion: We conclude that the pattern of pinhole bone scintigram obtained within 1 to 3 months after multiple drilling or vascularized bone graft operation is a useful prognostic indicator in the AVN of femoral head.

• The Korean Journal of Nuclear Medicine
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• v.33 no.4
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• pp.422-429
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• 1999

Purpose: The measurement of radiation absorbed dose is useful to predict the response after I-131 labeled metaiodobenzylguanidine (MIBG) therapy and determine therapy dose in patients with unresectable or malignant pheochromocytoma. We estimated the absorbed dose in tumor tissue after high dose I-131 MIBG in a patient with pheochromocytoma using a gamma camera and Medical Internal Radiation Dose (MIRD) formula. Materials and Methods: A 64-year old female patient with pheochromocytoma who had multiple metastases of mediastinum, right kidney and periaortic lymph nodes, received 74 GBq (200 mCi) of I-131 MIBG. We obtained anterior and posterior images at 0.5, 16, 24, 64 and 145 hours after treatment. Two standard sources of 37 and 74 MBq of I-131 were imaged simultaneously. Cummulated I-131 MIBG uptake in tumor tissue was calculated after the correction of background activity, attenuation, system sensitivity and count loss at a high count rate. Results: The calculated absorbed radiation dose was 32-63 Gy/ 74 GBq, which was lower than the known dose for tumor remission (150-200 Gy). follow-up studies at 1 month showed minimally reduced tumor size on computed tomography, and mildly reduced I-131 MIBG uptake. Conclusion: We estimated radiation absorbed dose after therapeutic I-131 MIBG using a gamma camera and MIRD formula, which can be peformed in a clinical nuclear medicine laboratory. Our results suggest that the measurement of radiation absorbed dose in I-131 MIBG therapy is feasible as a routine clinical practice that can guide further treatment plan. The accuracy of dose measurement and correlation with clinical outcome should be evaluated further.

• The Korean Journal of Nuclear Medicine
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• v.36 no.4
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• pp.271-276
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• 2002

Purpose: To measure reliable glomerular filtration rate by using the representative values of transplanted renal depths, which are measured with ultrasonography. Materials and Methods: We included 54 patients (26 men, 28 women), with having both renal scintigraphy and ultrasonography after renal transplantation. We measured GFR with Gates' method using the renal depth measured by ultrasonography, and median and mean ones in each patient. We compared GFR derived from ultrasonography-measured renal depth with GFR derived from median and mean renal depths. The correlation coefficients were obtained among GFR derived from ultrasonography-measured renal depths, median and mean renal depths under linear regression analysis. We determined whether GFR derived from median or mean renal depth could substitute GFR derived from ultrasonography-measured renal depth with Bland-Altman method. We analyze the expected errors of the GFR using representative renal depth in terms of age, sex, weight, height, creatinine value, and body surface. Results: The transplanted renal depths range from 3.20 cm to 5.96 cm. The mean value and standard deviation of renal depths measured by ultrasonography are $4.09{\pm}0.65cm$ in men, and $4.24{\pm}0.78cm$ in women. The median value of renal depths measured by ultrasonography is 4.36 cm in men and 4.14 cm in women. The GFR derived from median renal depth is more consistent with GFR derived from ultrasonography-measured renal depth than GFR derived from mean renal depth. Differences of GFR derived from median and ultrasonography-measured renal depth are not significantly different in the groups classified with creatinine value, age, sex, height, weight and body surface. Conclusion: When median value is adapted as a representative renal depth, we could obtain reliable GFR in transplanted kidney simply.