• Clinical and Experimental Pediatrics
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• v.52 no.5
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• pp.622-626
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• 2009

Kikuchi-Fujimoto disease was initially described as a self-limiting histiocytic necrotizing lymphadenitis in Japan in 1972, and is predominantly observed in women under the age of 30 year and in Asian populations. The pathogenesis is still poorly understood but is thought to include infections, and autoimmune and neoplastic diseases. The most common clinical manifestations are fever and painless cervical lymphadenitis. Diagnosis is based on the histopathological findings, characterized by focal necrosis in the paracortical region with abundant karyorrhexis, aggregates of atypical mononuclear cells around the zone of necrosis, absence of neutrophils and plasma cells, and usually intact lymph node capsule. There is no specific therapy for the condition, and aseptic meningitis can occur as one of the complications. Here, we report the case of a patient with Kikuchi-Fujimoto disease accompanied with aseptic meningitis, which may be confused as a case of tuberculous meningitis and lymphadenitis.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Journal of Life Science
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• v.30 no.7
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• pp.630-633
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• 2020

Renal failure syndrome in wild mammals is infrequently reported. Muskrat (Ondatra zibethicus) is a medium-sized rodent known to carry many diseases but rarely exhibiting renal failure. A six-month old female muskrat was submitted to our laboratory for pathological diagnosis, and necropsy revealed severe renal damage with sand-like lithiasis in the ureter, renal calculi, and hydronephrosis. All major organs, including the cerebrum, also showed systemic hemorrhage and calcification which may have been due to uremia induced by renal failure. Histopathologically, necrosis and microcalcification were detected in the renal cortex and the medulla, especially in the proximal convoluted tubules and collecting ducts of the kidney. Significant hyalinization of the glomeruli was also observed, and this suggested chronic nephritis. These findings would support mycotoxic effects, particularly on the kidney. Moreover, infiltration of neutrophils and mononuclear cells was observed in the lung and of plasma cells in the spleen. The definitive cause of the toxic effects in this case of muskrat renal failure could be attributed to contaminated food.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.35 no.1
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• pp.27-32
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• 2009

Human hair is an excretory system for trace metals and thus metal content in human hair can reflect the body status. The investigation of trace elements in human hair has been correlated with the diagnosis of various diseases as well as the monitoring of deficiency statues in nutrition. Many chronic diseases may be related to mineral status, some may be related to toxic mineral. Hair samples were collected from 120 inhabitants of the city of Seoul, Korea. In this study the concentrations of 10 elements (Hg, Pb, Cd, Al, As, U, Bi, Sb, Ba, Be) in hair were determined by inductively coupled plasma mass spectroscopy (ICP-MS). The conclusions showed that people in Seoul, Korea were affected by some kinds of toxic minerals. The Hg concentrations of male are higher than those of female and reference range. The mean concentration of Sb was higher in the female than male and reference range. In age distribution, the mean concentration of Hg was in 40's are higher than 20's and 30's and reference range. The concentrations of Al were the highest in the 20's. After analyzing, we concluded that a compounded treatment should be conducted, which considers the variety of factors related to detoxification.

• Nuclear Medicine and Molecular Imaging
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• v.41 no.6
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• pp.561-565
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• 2007

Purpose: Lipophilic cations including tetraphenylphosphonium (TPP) salts penetrate the hydrophobic barriers of the plasma and mitochondrial membranes, resulting in accumulation in mitochondria in response to the negative inner transmembrane potentials. The development of radiolabeled phosphonium cations as a noninvasive imaging agent may serve as a new molecular "voltage sensor" probe to investigate the role of mitochondria in the pathophysiology and diagnosis of cancer. Materials and Methods: We have synthesized a reference compound (4-fluorophenyl)triphenylphosphonium (TPP) and a labeled compound $[^{18}F]$TPP via two step nucleophilic substitution of no-carrier-added $[^{18}F]$fluoride with the precursor, 4-iodophenyltrimethylammonium iodide, in the presence of Kryptofix-2.2.2 and $K_2CO_3$. Result: The reference compound (4-fluorophenyl)triphenylphosphonium (TPP) was synthesized in 60% yield. The radiolabeled compound $[^{18}F]$TPP was synthesized in $10\sim15%$ yield. The radiochemical purity of the $[^{18}F]$TPP was $95.57{\pm}0.51%$ (n=11). Conclusion: $[^{18}F]$TPP was successfully synthesized that might have a potential to be utilized as a novel myocardial or cancer imaging agent for PET. However, it is required to improve the radiochemical yield to apply $[^{18}F]$TPP in preclinical or clinical researches.

• Molecules and Cells
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• v.37 no.1
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• pp.66-73
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• 2014

Myeloid-derived suppressor cells (MDSCs) play an important role in impairing the function of T cells. We characterized MDSCs in two chronic hepatitis C (CHC) cohorts: a cross-sectional group that included 61 treatment-naive patients with CHC, 14 rapid virologic response (RVR) cases and 22 early virologic response (EVR) cases; and a longitudinal group of 13 cases of RVR and 10 cases of EVR after pegylated-interferon-${\alpha}$/ribavirin treatment for genotype 1b HCV infection. Liver samples from 32 CHC patients and six healthy controls were subjected to immunohistochemical analysis. MDSCs frequency in treatment-naive CHC was significantly higher than in RVR, EVR, or healthy subjects and was positively correlated with HCV RNA. Patients infected with HCV genotype 2a had a significantly higher frequency of MDSCs than those infected with genotype 1b. Decreased T cell receptor (TCR) ${\zeta}$ expression on $CD8^+$ T cells was significantly associated with an increased frequency of MDSCs in treatment-naive CHC patients and was restored by L-arginine treatment in vitro. Increased numbers of liver arginase-$1^+$ cells were closely associated with the histological activity index in CHC. The TCR ${\zeta}$ chain was significantly downregulated on hepatic $CD8^+$ T cells in CHC. During antiviral follow up, MDSCs frequency in peripheral blood mononuclear cells was directly correlated with the HCV RNA load in the plasma and inversely correlated with TCR ${\zeta}$ chain expression in $CD8^+$ T cells in both RVR and EVR cases. Notably, the RVR group had a higher frequency of MDSCs at baseline than the EVR group. Collectively, this study provides evidence that MDSCs might be associated with HCV persistence and downregulation of CD8 ${\zeta}$ chain expression.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.11-15
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• 2020

Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. Materials and Methods: NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. Results: Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12⁺¹ (9⁺³ to 27⁺¹) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. Conclusion: NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.22-27
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• 2021

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

• Korean Journal of Veterinary Service
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• v.45 no.2
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• pp.79-86
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• 2022

Reproductive disorders in cows cause economic loss in livestock farms. This study was carried out to investigate the incidence of endometriosis in the uterine of Korean indigenous cow (Hanwoo). In the present study, the uterine of 25 cows was provided by the slaughterhouse. As a result on a visual examination of the uterus, 18 out of 25 were visually normal, and 7 uteruses (28%) appeared rather pale and showed purulent or mucosal symptoms in Uterine horn. However, the results of hematological analysis showed that both RBC and WBC were normal and showed no signs of systemic inflammation, indicating 7 cows showed asymptomatic endometriosis. The inflammatory uterus (28%) showed a wide range of pathological conditions that elicit an inflammatory response, such as serous exudate and bleeding. Histological and microscopic analysis in the inflammatory group demonstrated that there was swelling of the uterine glands, and neutrophil, basophil, and lymphocyte appeared in the uterine gland. Moreover, plasma cells and hemosiderin-laden macrophages were increased in the endometrial stroma, which lead to inhibit pregnancy by suppression of the synthesis of pregnancy hormones, and the appearance of hemosiderin-laden macrophages is an indicator of intracellular bleeding. In summary, hematologically, it is a normal diagnosis in Korean indigenous cows, however, when the uterus was extracted and investigated microscopically, the asymptomatic endometriosis were evident. In order to achieve the goal of healthy cow management and breeding within 2 weeks after birth, cows' uterus should be washed, disinfected, and through thorough the hygiene management, it aims to prevent asymptomatic endometriosis to produce healthy offspring and reduce the breeding interval.

• Journal of the Korea Convergence Society
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• v.13 no.1
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• pp.399-408
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• 2022

The purpose of this study was to compare the usefulness of the lipid ratio indicators for the diagnosis of metabolic syndrome in the elderly aged 65 years or older. From January 2018 to December 2020, 1,464 people aged 65 years or older who underwent a health checkup at a general hospital in Seoul were included. Lipid ratio indicators were measured through blood tests. The prevalence of metabolic syndrome according to the quartiles of the lipid ratio index was confirmed by logistic regression analysis. In addition, the metabolic syndrome predictive ability and cutoff value of the lipid ratio indices were estimated with the receiver operating characteristic(ROC) curve. The correlation between atherogenic index of plasma(AIP) and waist circumference was the highest in both men and women(r=0.278, p<0.001 vs r=0.252, p<0.001). As for the lipid ratio indices, the incidence of metabolic syndrome was higher in the fourth quartile than in the first quartile. The area under the ROC curve(AUC) value of AIP was higher at 0.826(95% CI=0.799-0.850) and 0.852(95% CI=0.820-0.881) for men and women, respectively, compared to other lipid ratio indicators, and the optimal cutoff values for both men and women was 0.44(p<0.001). Therefore, the AIP among the lipid ratio indicators was found to be the most useful index for diagnosing metabolic syndrome in the elderly aged 65 years or older.