No abstract available.
Anemia, Hemolytic, Autoimmune* ; Child* ; Hepatitis, Chronic* ; Humans

Localized nodular myositis is an uncommon benign inflammatory myopathy of unkonwn cause affecting skeletal muscle and, presenting as a localized painful swelling within the soft tissue of an extremity. Histological examination reveals lymphocytic infiltration, scattered muscle fiber necrosis and regeneration, and interstitial fibrosis. MRI finding is an enhancement with increased signal intensity around the lesion. We report two cases of localized nodular myositis presenting as pseudothrobothrombophlebitis. We believe this is the first case report of localized nodular myositis in Korea.
Extremities ; Fibrosis ; Korea ; Magnetic Resonance Imaging ; Muscle, Skeletal ; Myositis* ; Necrosis ; Regeneration

Recurrence of progressive familial intrahepatic cholestasis (PFIC) type II poses challenges during postoperative liver transplant care. Posttransplant patients with PFIC type II risk developing recurrent cholestasis with normal gamma-glutamyl transferase activity, which mimics the original bile salt export pump (BSEP) protein deficiency and is related to a form of immunoglobulin G antibody (anti-BSEP)-mediated rejection. Bortezomib effectively induces apoptosis of actively antibody-producing plasma cells that may have a role in antibodymediated rejection. In this case, we used bortezomib to treat PFIC type II recurrence after liver transplantation in a child.

Spontaneous pneumomediastinum is an uncommon disease that is defined as the presence of free air in the mediastinum in the absence of any obvious precipitating cause. This condition occurs as a rare complication of acute exacerbation of asthma. Classic symptoms include retrosternal chest pain, dyspnea and cough, but are not specific. Spontaneous pneumomediastinum complicated by asthma is usually self-limiting and well controlled with conservative management, but this condition can be potentially life threatening. We report a case of 18-year-old woman with asthma who presented with spontaneous pneumomediastinum. The patient was treated conservatively with oxygen and steroid therapy, and her clinical conditions were improved. Spontaneous pneumomediastinum disappeared.
Adolescent ; Asthma* ; Chest Pain ; Cough ; Dyspnea ; Female ; Humans ; Mediastinal Emphysema* ; Mediastinum ; Oxygen

Raoultella species are gram-negative, non-motile, aerobic bacilli that are primarily considered as environmental bacteria. Raoultella planticola is reportedly a rare cause of human infections. Also, the definite pathological mechanism of Raoultella planticola is currently unknown. We report a case of pneumonia caused by Raoultella planticola.
Bacteria ; Humans ; Pneumonia*

Background/Aims: Germline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences. Methods: We analyzed the clinical characteristics of a total of 34 D631Y variant MEN2 individuals from seven families. We also constructed wild-type and mutant C630Y, D631Y, and C634R/W expression vectors and investigated their effects on signaling pathways and ability to correct the phenotypes of RET mutant cells. Results: The median ages at diagnosis of pheochromocytoma and medullary thyroid carcinoma (MTC) were higher in patients with RET D631Y variant MEN2 than in those with the C634R/W variant (49:53.5 years vs. 33.5:27 years, respectively), and the penetration of the D631Y mutation with respect to MTC was lower than that of the C634R/W mutation (32.3% vs. 90%). The effects of the mutant vectors on phosphorylation of RET signaling molecules and focus formation were significantly different from those of wild type, but there were no significant differences between the mutants. D631Y scored significantly higher for chemotaxis and wound healing than C630Y, but lower than C634R and C634W. Conclusions We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.

The evaluation of women with low-grade cytologic abnormalities including atypical cells of undetermined significance(ASCUS) and low-grade squamous intraepithelial lesion (LSIL) is a topic of considerable controversy. Some women with low-grade cytologic abnormalities will have high-grade intraepithelial neoplasia(CIN II or III) or even invasive cancer. Now, it is almost universally accepted that the majority of invasive cervical cancer and high-grade intraepithelial neoplasia are associated with Human papillomavirus(HPV). Because of this, there has been increasing tendancy on using another triaging methods for evaluating women with a low grade abnormal Papanicolaou smear. Traditionally colposcopy was used and recently HPV DNA test and cervicography was widely used as a triaging methods. This study used the data gained from 151 evaluable women with ASCUS and LSIL in the Department of Obstetrics and Gynecology, Catholic University Medical College, Kangnam St. Mary's Hospital from March 1995 to April 1996. 11,401 women had done cytology during this period and result was like this; 10,501 patients had normal cytology(92.1%), 244 patients had ASCUS(2.14%), 35 had AGCUS (atypical glandular cells of undetermined significance: 0.31%), 191 had LSIL(1.68%), 170 had HSIL(1.49%), and 160 had cervical cancers(1.41%). Patients with ASCUS were showed that CIN I WAS 5.6%(4/72), CIN II 4.2%(3/72) and CIN III 15.3%(11/72). Patients with LSIL were showed that CIN I was 5.1%(4/79), CIN II 7.6(6/79), CIN III 15.2%(12/79) and invasive cancer 7.6%(6/79). We adopted three management algorithms for evaluating women with ASCUS and LSIL. Three methods were like this; Colpscopy only or HPV DNA testing using hybrid capture which were used with DNAs extracted from the cerval swabs and tested with two pooled probes(probes containing HPV types of low oncogenic risk; 6, 11, 42, 43 and 44 or HPV types of high oncogenic risk; 16, 18, 31, 33, 35, 45, 51, 52 and 56) for HPV detection or both. We adopted only positive result with high risk HPV-probes in this article. At ASCUS group, sensitivity and specificity were 90.0% ad 32.5% in 62 women with colposcopy and 71.4%, 75% in 28 women with Hybrid Capture System. 27 women with colposcopy and Hybrid Capture System showed that sensitivity was 100%, and specificity was 26.3%. At LSIL group, sensitivity and specificity were 92.6% and 22.7% in 71 women with colposcopy and 69.2%, 65.4% in 39 women with Hybrid Capture System, 37 women with colposcopy and Hybrid Capture System showed that sensitivity was 91.7%, and specificity was 12%. Our result indicate that patients with smears showing some of ASCUS and LSIL are evaluated as CIN I, II, III and even invasive cancer. Therefore as a triage methods, the combination with colposcopy and HPV DNA test in women referred for low-grade abnormal cytology would be used as a sensitive methods for the detection of CINs. However, low -specificity of this combination approach was also considered as problem. This approach provides another information to differentiating ASCUS and LSIL into high- or low-risk group of progression.
Colposcopy ; DNA ; Female ; Gynecology ; Human Papillomavirus DNA Tests ; Humans ; Obstetrics ; Papanicolaou Test ; Sensitivity and Specificity ; Triage ; Uterine Cervical Neoplasms

BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other a new p.Glu383fsX36 mutation. The aim of this study was to investigate the functional properties of a new allele present in a compound heterozygote of CYP17A1. METHODS: To understand how p.His373Leu and p.Glu383fsX36 affect P450c17 enzymatic activity, wild type and mutant CYP17A1 cDNAs were cloned into flag-tagged pcDNA3 vector and introduced into human embryonic kidney cells 293T (HEK293T) cells. Protein expression levels of CYP17A1 were then analyzed. And the activities of 17α-hydroxylase and 17,20-lyase of CYP17A1 were evaluated by measuring the conversion of progesterone to 17α-hydroxyprogesterone and of 17α-hydroxypregnenolone to dehydroepiandrosterone, respectively. In addition a computer model was used to create the three-dimensional structure of the mutant CYP17A1 enzymes. RESULTS: Production of the p.His373Leu mutant protein was significantly lower than that of the wild type protein, and the p.Glu383fsX36 protein was hardly produced. Similarly the enzymatic activity derived from the p.His373Leu mutant vector was significantly lower than that obtained from the wild type vector, and little activity was obtained from the p.Glu383fsX36 vector. Three-dimensional modeling of the enzyme showed that p.His373 was located in region important for heme-binding and proper folding. Neither the p.His373Leu nor the p.Glu383fsX36 mutant protein formed a heme-binding structure. CONCLUSION: Enzyme activity measured in both mutants disappeared completely in both 17α-hydroxylase and 17,20-lyase. This result accounts for the clinical manifestations of the patient with the compound heterozygous CYP17A1 mutations.
Adrenal Hyperplasia, Congenital ; Alleles ; Clone Cells ; Computer Simulation ; Cytochrome P-450 Enzyme System ; Dehydroepiandrosterone ; DNA, Complementary ; Heterozygote ; Humans ; Kidney ; Mutant Proteins ; Progesterone ; Steroid 17-alpha-Hydroxylase

Acute pyelonephritis is a common disease in clinical practice. Renal vein thrombosis in acute pyelonephritis has become a rare complication at present because of the advances of antibiotics. The trend in management has shifted to non-surgical therapies, particularly systemic anticoagulation, except in highly selected group of patients. Here we report the case of a 67-year-old woman who got hospitalized for fever and chilling. Acute pyelonephritis was diagnosed by clinical manifestation and positive urine and blood cultures. Computed tomography demonstrated left pyelonephritis and ipsilateral renal vein thrombosis. She was fully recovered after treatment with antibiotics, low molecular weight heparin and warfarin for 8 weeks.
Aged ; Anti-Bacterial Agents ; Female ; Fever ; Heparin, Low-Molecular-Weight ; Humans ; Pyelonephritis ; Renal Veins ; Thrombosis ; Warfarin

BACKGROUND/AIMS: Transient elastography is a new noninvasive tool for measuring liver stiffness that accurately predicts significant fibrosis and cirrhosis. However, several studies have indicated that liver stiffness can be significantly influenced by major changes in aminotransferase in patients with chronic viral hepatitis. The aim of this study was to determine the factors influencing liver stiffness in patients with chronic liver disease. METHODS: We studied 158 patients with chronic liver disease who underwent transient elastography and liver biopsy sampling. Histologic findings on fibrosis and necroinflammatory activity in the biopsy specimens were evaluated according to the Korean Society of Pathologists Scoring System. Routine biochemical tests were performed according to standard methods. RESULTS: Liver stiffness was strongly correlated with liver fibrosis stage (Spearman coefficient=0.636, P<0.001), lobular activity (Spearman coefficient=0.359, P<0.001), and portoperiportal activity grade (Spearman coefficient=0.448, P<0.001). Liver stiffness was significantly associated with serum levels of total bilirubin (P=0.025), direct bilirubin (P=0.049), gamma-glutamyl transpeptidase (P=0.014), platelet count (P=0.004), albumin (P<0.001), and international normalized ratio (P<0.001). Multivariate analysis showed that fibrosis stage (B 3.50, P=0.009) and lobular activity grade (B 3.25, P=0.047) were independently associated with liver stiffness. CONCLUSIONS: Liver stiffness as measured by transient elastography is associated with the grade of necroinflammatory activity and the stage of fibrosis, irrespective of serum ALT levels.
Adult ; Aged ; Bilirubin/blood ; Biopsy ; Chronic Disease ; Elasticity ; *Elasticity Imaging Techniques ; Female ; Hepatitis B, Chronic/*complications ; Hepatitis C, Chronic/*complications ; Humans ; International Normalized Ratio ; Liver Cirrhosis/etiology/pathology/*ultrasonography ; Male ; Middle Aged ; Platelet Count ; Risk Factors ; Severity of Illness Index ; gamma-Glutamyltransferase/blood