• Title/Summary/Keyword: serum diagnosis

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Location Studies of Prostate Volume Measurement by using Transrectal Ultrasonography: Experimental Study by Self-Produced Prostate Phantom (경직장초음파를 이용한 전립선 볼륨측정 시의 위치 연구: 전립선모형 제작과 실험)

  • Kim, Yun-Min;Yoon, Joon;Byeon, II-kyun;Lee, Hoo-Min;Kim, Hyeong- Gyun
    • Journal of radiological science and technology
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    • v.38 no.4
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    • pp.437-442
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    • 2015
  • Accurate volume measurement of the prostate is a significant role in determining the result of diagnosis and treatment of benign prostate hyperplasia. The purpose of this study was to determine, when measuring prostate volume by TRUS, whether location is more accurately determined by transaxial or longitudinal scanning. With reference to the patient's image, it was produced six prostate model. It compares the actual volume and the measurement volume, and find the optimal measurement position of each specific model. Prostate volume measured by TRUS closely correlates with prostate phantom volume. There was no significant difference(p = .156). To measure the accurate volume of prostate with focal protrusion, its length should be measured exclude the protrusions.

Usefulness of FDG-PET/CT as a Diagnostic Tool for Routine Post Therapy Evaluation in Endometrial Cancer (자궁내막암의 치료 후 루틴 추적검사 방법으로서 FDG-PET/CT의 유용성)

  • Lee, Shin-Jae;Jeon, Tae-Joo;Kim, Seung-Jo;Kim, Hee-Jin;An, Hee-Jung
    • Nuclear Medicine and Molecular Imaging
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    • v.43 no.4
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    • pp.301-308
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    • 2009
  • Purpose: The aim of this study was to evaluate the usefulness of FDG-PET/CT as follow up imaging tool in patients with endometrial cancer after therapy. Material and Methods: One hundred one patients with endometrial cancer who underwent FDG PET/CT after the treatment of this disease were included in this study population (25-79 yr old, Mean age 50.6 yr old) and all these patients also performed various laboratory and imaging studies such as serum tumor marker, CT or MRI. The lesions having increased focal FDG uptake were classified into benign, equivocal, and malignant one according to their pattern and activity. Tumor recurrence was confirmed by histopathological results and other clinical and imaging data. Results: Among the 19 patients with 30 malignant or equivocal hot uptakes, 11 of 14 patients supposed to be malignant finding in PET/CT were proved to be tumor recurrence, while one of 5 patients with equivocal lesions were recurred malignancy, Two false negative cases were turned out to be peritoneal carcinomatosis, Estimated sensitivity, specificity and accuracy of PET/CT for diagnosis of recurrence in endometrial carcinoma after treatment were 86 %, 92 % and 91 %, respectively. Positive and negative predictive values in the same issue were 63% and 98%, respectively. Conclusion: FDG-PET/CT is useful for regular work up of endometrial carcinoma after the treatment because of its high negative predictive value as well as high sensitivity and specificity.

색소 과다 침착만으로 조기 발견한 소아 부신백질이영양증 1례

  • Park, Seon-Hyeong;Hong, Yong-Hui
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.195-199
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    • 2014
  • The X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease by defects of ABCD1 gene on chromosome Xq28 leading to accumulation of saturated very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. A 4-year-old boy was visited hospital with the chief compliant of hyperpigmentation beginning at 2-years old. Serum adrenocorticotropic hormone (ACTH) and cortisol concentration were compatible with adrenal insufficiency. The elevated plasmatic concentration of VLCFA and genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed no abnormal high signal intensity on the white matter. Steroid replacement was started with good response. He initiated Lorenzo's oil with restriction of VLCFA by reducing the intake of fatty foods. The author highlight the importance of suspecting of X-ALD in the etiology of primary adrenal insufficiency as the first sign of the disease.

A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation

  • Son, Yeong-Bae;Jang, Ju-Yeong;Park, Hyeong-Du;Lee, Su-Yeon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.2
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    • pp.186-190
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    • 2014
  • Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.

A Case of Feline Infectious Peritonitis with Intestinal Manifestation in a Cat (고양이에서 장 병변을 가진 고양이 전염성 복막염 감염 증례)

  • Oh, Hyun-Jung;Sohn, Jung-Min;Jung, Sun-Young;Kim, Bo-Eun;Ji, Seo-Yeoun;Jung, Joo-Hyun;Kim, Dae-Yong;Youn, Hwa-Young;Yoon, Junghee;Choi, Min-Cheol
    • Journal of Veterinary Clinics
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    • v.31 no.5
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    • pp.449-453
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    • 2014
  • A 2-year-old, intact male, Persian exotic cat, weighing 2 kg with a history of a palpated abdominal mass was admitted to Veterinary Medical Teaching Hospital, Seoul National University. On routine complete blood count (CBC) and serum biochemical analyses, there were anemia and 0.45 of albumin to globulin ratio. A feline infectious peritonitis (FIP) virus antibody test kit was negative. Radiography, ultrasonography and computed tomography (CT) were performed. A markedly enlarged abdominal mass was found. On cytologic examination of this mass, it was diagnosed as alimentary lymphoma or pyogranulomatous inflammation. Chemotherapeutic treatment for intestinal lymphoma was provided for several weeks, but the mass size was increased and clinical signs were not improved. The cat died six days after discontinuing chemotherapy. On postmortem examination, the definitive diagnosis was FIP. This case describes a cat with FIP in which an abdominal tumor had been suspected clinically.

Gastric Adenoma in the Pyloric Outflow Tract of a Shih-tzu Dog (시츄견에서 위유문부에서 발생한 위선종 증례)

  • Lee, Hee-Chun;Kwon, Do-Hyung;Moon, Jong-Hyun;Kim, Young-Ki;Cho, Kyu-Woan;Kang, Byeong-Teck;Im, Keum-Soon;Sur, Jung-Hyang;Jung, Dong-In
    • Journal of Veterinary Clinics
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    • v.29 no.2
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    • pp.169-172
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    • 2012
  • A 12-year-old castrated male Shih-tzu dog presented with vomiting, anorexia, and weight loss. The patient's medical history and hematological, radiographic, ultrasonographic, and endoscopic findings were used for diagnosis. The patient's medical history showed that he was being treated for chronic kidney disease since a few weeks. The serum biochemical analysis showed moderate azotemia. However, abdominal radiographic and ultrasonographic findings showed the presence of a mass in the pylorus area of the stomach. On gastrointestinal endoscopic examination, the proliferative mass was found in the pyloric antrum. The histopathological results of the endoscopic biopsy specimen indicated that it was strongly suspected a gastric adenoma; therefore, we surgically excised the pyloric outflow region via a Y-U pyloroplasty. The histopathological examination of the surgically excised specimen also indicated that the mass was a gastric adenoma. After surgical treatment, the patient's condition improved gradually, and the clinical symptoms diminished in approximately 3 weeks after surgery. The patient's condition was well controlled until recently, i.e., 18 months after surgery. This case report describes the clinical findings, imaging characteristics, endoscopic findings, and histopathological features of a gastric adenoma in the pyloric outflow tract of a dog.

A Case of Cryptococcosis involving Lung and CNS without Underlying Disease (폐와 중추신경계를 침범한 효모균증(Cryptococcosis) 1예)

  • Lee, Min-Su;Park, Sang-Seon;Koh, Young-Il;Jang, An-Soo;Lim, Sung-Chul;Yang, Ju-Yeoul;Park, Hyung-Kwan;Na, Hyun-Joo;Kim, Young-Chul;Choi, In-Seon;Park, Kyung-Ok
    • Tuberculosis and Respiratory Diseases
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    • v.42 no.4
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    • pp.618-623
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    • 1995
  • Cryptococcosis is a systemic mycosis that most often involves the lungs and central nervous system and, less frequently, the skin, skeletal system, and prostate gland. Cryptococcus neoformans, the causative organism, is a yeastlike round or oval fungus, 4 to $6{\mu}m$ in diameter, which is surrounded by a polysaccharide capsule and reproduces by budding and found in soil and other environmental areas, especially those contaminated by pigeon droppings. Humans and animals acquire infection after inhalation of aerosolized spores. Condition or factors that predispose to cryptococcosis include corticosteroid therapy, lymphoreticular malignancies, HIV infection, and sarcoidosis etc. We discribed a case of cryptococcosis involving lung and CNS coincidently without specific underlying disease and the literature on subject were reviewed. A fifty-six year-old previously healthy female presented with headache of 3 months of duration. She had no history suggesting immunologic suppression and we could not find any abnormal laboratory findings including blood sugar, serum immunoglobulin and complement level, HIV antibody, and T cell subsets. Chest roentgenogram and CT scan showed a solitary soft tissue mass in LUL with distal pneumonitis. Brain MRI showed granulomatous lesion in cerebellum and parasagittal cortex of right frontal lobe. The diagnosis was made by bronchoscopic brushing cytology, transthoracic fine needle aspiration, and sputum KOH mount and culture. She was treated 6 weeks course of Amphotericin B and switched to oral fluconazole therapy for 3 months. Her symptoms and X-ray findings were improved gradually and she is now under regular clinical follow up.

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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22 (산전 진단에서 관찰된 8번과 22번 염색체 사이의 미세 전좌에 의한 8번 염색체 단완 위성체)

  • Oh, Ah-Rum;Lee, Bom-Yee;Choi, Ene-Yuong;Ryu, Hyun-Mee;Lee, Seung-Jae;Jung, Ji-Ye;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.135-138
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    • 2011
  • The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

A Case of Atypical Thrombotic Microangiopathy (비전형적 혈전성 미세병증 1례)

  • Oh, Ji Young;Park, Se Jin;Kim, Ki Hwan;Lim, Beom Jin;Jeong, Hyeon Joo;Ki, Jung Hye;Kim, Kee Hyuck;Shin, Jae Il
    • Childhood Kidney Diseases
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    • v.17 no.2
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    • pp.149-153
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    • 2013
  • We report the case of a 14-year-old girl, diagnosed with atypical thrombotic microangiopathy (TMA). The patient presented with persistent fever, nausea, and newly developed peripheral edema. Her laboratory findings indicated chronic anemia with no evidence of hemolysis, thrombocytopenia, or elevated serum creatinine level. A few days after hospitalization, acute renal failure and fever worsened, and proteinuria developed. On day 40 of hospitalization, she experienced a generalized tonic seizure for 5 min, accompanied by renal hypertension. Brain magnetic resonance imaging revealed posterior reversible leukoencephalopathy syndrome. After steroid pulse therapy, a renal biopsy was performed because of delayed recovery from thrombocytopenia. The biopsy findings showed features of thrombotic microangiopathic hemolysis with fibrinoid change restricted. Current diagnostic criteria for TMA have focused on thrombotic thrombocytopenic purpura and hemolytic uremic syndrome, and diagnosis is based on the clinical presentation and etiology, with the consequence that idiopathic and atypical forms of TMA can be overlooked. Developing effective tools to diagnose TMA, such as studying levels of ADAMTS13 or testing for abnormalities in the complement system, will be the first step to improving patient outcomes.

Prenatal diagnosis of a de novo ring chromosome 11

  • Park, Ju-Yeon;Lee, Moon-Hee;Lee, Bom-Yi;Lee, Yeon-Woo;Ryu, Hyun-Mee;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.80-83
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    • 2007
  • A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

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