No abstract available.
Lymphadenitis*

Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
Adolescent ; Chromosomes, Human, Pair 15* ; Diabetes Mellitus ; Diagnosis ; DNA ; Eating ; Fluorescence ; Humans ; Hypogonadism ; Intellectual Disability ; Male ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Uniparental Disomy

No abstract available.
Dermoid Cyst* ; Female ; Ovary* ; Pregnancy ; Pregnancy, Tubal*

Thrombomodulin (TM) is thrombin receptor present on the luminal surface of endothelial cells. Because the thrombin-TM complex acts as an anticoagulant, the functional variants or deficiency of TM may lead to increment of thrombotic tendency. In this study, we screened the genetic variants of the TM gene in patients with myocardial infarction (MI) and analyzed the genotype to elucidate the effects of genetic variations of TM gene on the development of the MI. We screened a promoter region and coding sequence of the TM gene using single strand conformation polymorphism-heteroduplex analysis and identified three common genetic variants: those were TM G-33A, TM Ala455Val, and TM C1922T. The genotype frequencies were investigated in the patients with MI (n=234) and control subjects (n=291) by the method of allele-specific oligomer hybridization. The frequencies of mutant genotypes (TM -33A, TM 455Val, and TM 1922T) were higher in patient group compared to the control subjects in males while there were no significant differences in females. In the multiple logistic regression analysis, TM 455Val and TM 1922T alleles were independent risk factors for MI (OR[95% CI: 1.799[1.125-2.878] p=0.014 and 5.624[1.019-31.025], p=0.048, respectively) in males. However, the genetic variations were not independent risk factors for MI in females. There were significant linkage disequilibriums among three genetic variants. These linkage disequilibriums explain the similar effects of three genetic variants on the development of MI. To investigate the effect of the TM G-33A mutation on TM promoter activity, the two TM promoter constructs (pTM-355 and pTM-125, bearing TM -33G or TM -33A) containing of firefly luciferase gene were transfected into HepG2, BAE, and CHO cells. The promoter activities were higher in the promoter constructs with TM -33G compared to the constructs with TM -33A in pTM-355. These results suggest the possibility of the positive predisposing effect of TM -33A allele on MI in males. The functional study for TM Ala455Val and TM C1922T should be followed to elucidate the genotype effects of these mutations on the development of MI. In this study, we identified three genetic variants of TM gene and showed the significant associations between genetic variants and MI in males. These results proposed that TM gene is an attractive candidate for genetic risk factor for MI in Koreans.
Alleles ; Animals ; CHO Cells ; Clinical Coding ; Cricetinae ; Endothelial Cells ; Female ; Fireflies ; Genetic Variation ; Genotype ; Humans ; Linkage Disequilibrium ; Logistic Models ; Luciferases ; Male ; Myocardial Infarction* ; Phenobarbital ; Promoter Regions, Genetic ; Receptors, Thrombin ; Risk Factors* ; Thrombomodulin

BACKGROUND: An accurate and rapid method for specise identification of coagulase negative staphylococci(CNS) has been increasingly necessary for the clinical significance and planning the management of patients with staphylococcal infections. Recently, it has been reported that there is a highly conserved area on their 60KDa heat shock protein(HSP60) gene sequences between the interspecies of CNS and it can be amplified by a set of universal degenerate primer. This led us our attention to focus on whether the PCR-based RFLP method using Mse / restriction enzyme could be a useful tool for the species identification of CNS. METHODS: In the present study, we performed PCR-based RFLP analysis using a set of degenerate primers covering HSP60 and Mse / restriction enzyme on the reference strains and 25 clinical isolates(10 of S. epidermidis, 10 of S. haemolyticus, 4 of S. lugdunensis and 1 of S. warneri) which were previously identified by the API-STAPH, Vitek GPI card and/or with conventional biochemical test. RESULT: All the seven reference strains revealed that each strain has a distinct electrophoresed band patterns with combination of different number (up to 8) and size of fragments. And these distinct band patterns showed remarkable concordance with the seven reference strains and 25 clinical isolates. CONCLUSION: These result strongly suggest that the PCR-RFLP method using degenerate primers covering the HSP60 gene and Mse / digestion enzyme offer a convenient and accurate tool for species-specific identification of CNS.
Chaperonin 60* ; Coagulase* ; Digestion ; Heat-Shock Proteins* ; Hot Temperature* ; Humans ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Shock ; Staphylococcal Infections

BACKGROUND: Pseudo-Kaposi sarcoma mimicks Kaposi sarcoma, both clinically and histopathologically. These conditions are due to congenital (Stewart-Bluefarb syndrome) or acquired (Mali) vascular malformations. OBJECTIVES: The purposes of this study were aimed at evaluating the clinical and histopathological characteristics of pseudo-Kaposi sarcoma and finding differential diagnostic tools from Kaposi sarcoma. METHODS: Clinical information of 7 patients with pseudo-Kaposi sarcoma diagnosed in Asan Medical Center from 1989 to 1999 was obtained from the medical records and clinical follow-ups. We re-evaluated 10 biopsy specimens obtained from them and immunohistochemical studies for cutaneous lymphocyte antigen (CLA), CD34, vimentin, and factor VIII were performed with the standard streptavidin-biotin method using paraffin-embedded tissue specimens of 7 pseudo-Kaposi sarcomas and 3 Kaposi sarcomas. In addition, we examined whether human herpesvirus 8 (HHV8) was detected in 3 patients by polymerase chain reaction (PCR). RESULTS: Six male and one female patients were included. Mean age was 36.3 years. Three patients were classified into Mali type and the other four patients were into Stewart-Bludfarb type. Histopathological examinations revealed capillary proliferation in the upper dermis, perivascular infiltrate of inflammatory cells, extravasated red blood cells, and fibrosis of dermis. Anti-factor VIII and CD34 stained endothelial cells only. CLA was expressed in lymphocytic infiltrate in the epidermis and dermis of pseudo-Kaposi sarcoma, whereas it was negative in Kaposi sarcoma. PCR for HHV 8 showed negative results. CONCLUSIONS: Pseudo-Kaposi sarcoma is an uncommon entity with characteristic clinical and histopathological features. Differential diagnosis between Pseudo-Kaopsi sarcoma and Kaposi sarcoma is important. We suggest that detection of HHV 8 by PCR and imunohistochemical study for CLA may be effective tools in the differential diagnosis between them.
Biopsy ; Capillaries ; Chungcheongnam-do ; Dermis ; Diagnosis* ; Diagnosis, Differential ; Endothelial Cells ; Epidermis ; Erythrocytes ; Factor VIII ; Female ; Fibrosis ; Follow-Up Studies ; Herpesvirus 8, Human ; Humans ; Lymphocytes ; Male ; Mali ; Medical Records ; Polymerase Chain Reaction ; Sarcoma ; Sarcoma, Kaposi* ; Vascular Malformations ; Vimentin

BACKGROUND: Introduction of the Luminex panel reactive antibody (PRA)-single antigen (SA) assay has increased the detection rates of unacceptable antigens in sensitized patients; the calculated PRA (CPRA) level represents the percentage of actual organ donors that express 1 or more of these unacceptable antigens. We developed a CPRA calculator based on the HLA frequencies in Koreans to measure sensitization levels in Korean patients. METHODS: To develop the calculator, we obtained the HLA-A, HLA-B, and HLA-DR phenotypes of 1,622 Koreans, and compared these with previously reported frequencies in Koreans. Sera from patients awaiting kidney transplantation were tested for HLA antibodies by Luminex PRA-screen, PRA-identification (ID), and PRA-SA assays. The measured %PRA from the PRA-screen (N=55) and PRA-ID (N=71) were compared to the %CPRA for the unacceptable antigens obtained from PRA-SA. RESULTS: Phenotype frequencies used for the CPRA calculator agreed with previously reported data. The concordance rates among the 3 PRA methods for the detection of class I and class II antibodies were 76.1-81.8% (kappa, 0.519-0.636) and 72.7-83.6% (0.463-0.650), respectively. For the detection of broadly sensitized sera (>50% or >80%), the concordance rates were over 80%. In sera with 80-100% CPRA, 91.7% and 94.4% of the samples had concordant results (80-100% PRA) in the PRA-screen and PRA-ID assay, respectively. CONCLUSIONS: Although further clinical studies are required to confirm the benefits of CPRA values, adoption of CPRA analysis based on HLA frequencies in Koreans may be useful for sensitization measurements and organ-allocation algorithms.
*Algorithms ; HLA Antigens/immunology ; HLA-B Antigens/immunology ; HLA-DR Antigens/immunology ; *Histocompatibility Testing ; Humans ; Isoantibodies/*blood/immunology ; Phenotype ; Republic of Korea

The genitourinary syndrome of menopause (GSM) is a new term that describes various menopausal symptoms and signs including not only genital symptoms (dryness, burning, and irritation), and sexual symptoms (lack of lubrication, discomfort or pain, and impaired function, but also urinary symptoms (urgency, dysuria, and recurrent urinary tract infections). The terms vulvovaginal atrophy and atrophic vaginitis, which were generally used until recently, had a limitation because they did not cover the full spectrum of symptoms and did not imply that the symptoms are related to a decreased estrogen level in menopause. Since the GSM may have a profound negative impact on the quality of life of postmenopausal women, women should be made aware of these problems and treated with an appropriate effective therapy. Thus, in this review we introduce new terminology and discuss the importance of comprehension of GSM and the necessity of active treatment of this syndrome in postmenopausal women.
Atrophic Vaginitis ; Atrophy ; Burns ; Comprehension ; Dysuria ; Estrogens ; Female ; Humans ; Lubrication ; Menopause* ; Quality of Life ; Urinary Tract

In 1956, Prader and Willi first described a clinical syndrome that included severe neonatal hypotonia, hyperphagia, obesity, diabetes, hypogonadism, cryptorchidism, dental caries and mental deficiency. We have anesthetized a male patient who had Prader-Willi syndrome. He suffered for both pyoknee. General anesthesia was performed using N2O-O2-isoflurane. During induction and maintenance of anesthesia, we focused on the airway management, hypotonia, abnormal glucose metabolism, protection of aspiration and cardiovascular stabilization. Emergence of anesthesia was unremarkable. But he was expired from sepsis on the fourth postoperative day.
Airway Management ; Anesthesia ; Anesthesia, General ; Cryptorchidism ; Dental Caries ; Glucose ; Humans ; Hyperphagia ; Hypogonadism ; Intellectual Disability ; Male ; Metabolism ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Sepsis

OBJECTIVE: On the basis of preoperative computed tomography (CT) scans, we studied the change of the size of anterior primary division (APD) of the L5 spinal root in the presence of foraminal/extraforaminal entrapment of the L5 spinal root. METHODS: Two independent radiologists retrospectively reviewed the preoperative CT scans of 27 patients treated surgically and compared the sizes of the APDs on bilateral L5 spinal roots. If one side APD size was larger than the other side APD size, it was described as left or right "dominancy" and regarded this as "consensus (C)" in case that there was a consensus between the larger APD and the location of sciatica, and regarded as "non-consensus (NC)" in case that there was not a consensus. Oswestry Disability Index (ODI) scores were used for preoperative and postoperative evaluation. RESULTS: On CT scans, twenty-one (77%) of 27 patients were the consensus group (APD swelling) and 6 (22%) were a non-consensus group (APD no swelling). In 9 patients with acute foraminal disc herniations, asymmetric enlargement of the APD on L5 spinal root was detected in all cases (100%) and detected in 11 (64%) of 17 patients with stenosis. Preoperative ODI score was 75-93 (mean 83) and postoperative ODI scores were improved to 13-36 (mean 21). The mean follow-up period was 6 months (range, 3-11 months). CONCLUSION: An asymmetric enlargement of the APD on L5 spinal root on CT scans is meaningfully associated with a foraminal or extraforaminal entrapment of the L5 spinal root on the lumbosacral junction.
Consensus ; Constriction, Pathologic ; Diphosphonates ; Follow-Up Studies ; Humans ; Radiculopathy ; Retrospective Studies ; Sciatica ; Spinal Nerve Roots