Waardenburg syndrome is a very rare auditory-pigment syndrome with autosomal dominant inheritance. In his first report in 1951, Waardenburg characterized this syndrome as dystopia canthorum, a high broad nasal bridge, synophrys[confluent eyebrows], heterochromia iridid, a white forelock or early graying, and sensory neural deafness. We observed a case of Type 2 Waardenburg syndrome with openangle glaucoma and, therefore report with literature review.
Deafness ; Glaucoma ; Glaucoma, Open-Angle* ; Waardenburg Syndrome* ; Wills

Acute cerebral infarctions are rare in children, however, they can occur as a complication of a Mycoplasma pneumoniae (MP) infection due to direct invasion, vasculitis, or a hypercoagulable state. We report on the case of a 5-year-old boy who had an extensive stroke in multiple cerebrovascular territories 10 days after the diagnosis of MP infection. Based on the suspicion that the cerebral infarction was associated with a macrolide-resistant MP infection, the patient was treated with levofloxacin, methyl-prednisolone, intravenous immunoglobulin, and enoxaparin. Despite this medical management, cerebral vascular narrowing progressed and a decompressive craniectomy became necessary for the patient's survival. According to laboratory tests, brain magnetic resonance imaging, and clinical manifestations, the cerebral infarction in this case appeared to be due to the combined effects of hypercoagulability and cytokineinduced vascular inflammation.
Brain ; Cerebral Infarction* ; Child ; Child, Preschool ; Decompressive Craniectomy ; Diagnosis ; Enoxaparin ; Humans ; Immunoglobulins ; Inflammation ; Levofloxacin ; Magnetic Resonance Imaging ; Male ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia, Mycoplasma* ; Stroke ; Thrombophilia ; Thrombosis ; Vasculitis

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

Eighty eight cases of the endometrial biopsy comprising 19 cases of proliferative phase, 21 cases of secretory phase, and 23 cases of menstrual phase from non-sterility patients, and 25 cases of the endometrium at the first day of menstruation from primary sterility patients were examined histochemically. Secretory substance in the epithelial cells of the endometrial glands during the secretory phase and menstrual phase was main1y glycogen. Therefore, it is essential to fix the endometrial tissue in a fixative which can preserve glycogen for the detection of secretory activity more accurately. Among 25 cases of primary sterility, 15 cases showed epithelial secretory vacuoles on hematoxylin and eosin stained sections, and no epithelial vacuolization was noted in the remaining 10 cases. However, PAS staining showed presence of PAS positive diastase sensitive substance in the majority of the later 10 cases except one in which no PAS positive substance was found, indicating that PAS staining is superior than routine hematoxylin and eosin staining for the detection of epithelial secretory substance. The absolute lack of secretory activity in the endometrial glands was infrequent, but a relative decrease of progesterone effect was rather common among the patients complaining primary sterility, and the decreased progesterone effect may not necessarily be due to the absence of ovulation.
Adult ; Endometrium/*cytology/*physiology ; Female ; Histocytochemistry ; Human ; Infertility, Female/pathology ; Ovulation/*physiology ; Progesterone/analysis ; Secretory Rate

Methonexate is one of the well known anti-cancer chemotherapeutic agents and exerts its action by inhibiting mitoses by inhibition of nucleic acid synthesis. Its effect on actively proliferating normal and pathologic tissues have been well documented. However, little information is available on its effect on tissue which shows no active mitoses but does have a very active metabolic process, such as the pancreas. The present study investigated the histochemical and ultrastructural changes which take place within 24 hours after a single intraperitoneal injection of methotrexate. Using a light microscope for observation, no .specific or constant alteration was noted except for a mild acinar cell dissociation 18 hours after the injection. However, electron microscopic observations showed that several organelles of pancreatic acinar cell revealed ultrastructural changes such as vesiculation and dilation of the cisternae of endoplasmic reticulum, and the appearance of autophagic vacuoles which contained cellular organelles, and showed hyperplasia and dilation of Golgi complexes. The nuclei and zymogen granules were not significantly altered. The changes of endoplasmic reticulum were ,distinctly seen from 1 hour after the injection and were most severe at 6 hours. Autophagic vacuoles appeared at 6 hours and had progressively increased in number and size 18 hours after the injection. Similar changes were also reported in experimental animals which were treated with several cytotoxic agents. According to this study, it is evident that a single administration of methotrexate within short time interval induced a series of ultrastructural alterations in several organelles of the pancreatic acinar cells. It is not clear as yet whether or not this is a specific reaction of cells to methotrexate.
Animals ; Female ; Male ; Methotrexate/*pharmacology ; Pancreas/cytology/*drug effects ; Rats

A case of Hodgkin's disease which was complicated by disseminated cryptococcemia terminally is reported. The patient was a 19 year old girl and complained of high fever with shaking chins and dyspnea. In the past history, antituberculous treatment was given using PAS, INH and streptomycin for 2 months under the diagnosis of tuberculous pleurisy and several antibiotics and steroids were also given. On admission, antituberculous treatment was continued and prednisolone was also prescribed. She was discharged 15 days later but was readmitted because of abdominal pain and uncontrolable fever. On the third hospital day, a leftcervical lymphnode biopsy revealed. Hodgkin's disease, paragranuloma type. Endoxan and cobalt 60 irradiation were given to the abdomen. On the sixtieth hospital day, she became irritable and comatose and expired. At autopsy, disseminated Hodgkin's sarcoma was noted involving multiple lymphnodes, esophagus, small and large intestines, pancreas, liver, spleen, diaphragm, lungs, peritoneum, uterus, left ovary and bone marrow. In addition, evidence of cryptococcemia involving kidneys, lungs, heart, brain, pituitary gland and lymphnodes, was noted. A brief review of the literature was also made.
Adult ; Autopsy ; Cryptococcosis/complications* ; Cryptococcosis/pathology ; Female ; Hodgkin Disease/complications* ; Hodgkin Disease/pathology ; Human ; Lymph Nodes/pathology ; Septicemia/etiology*

BACKGROUND: Slug is a member of the Snail family of transcription factors, and it plays a crucial role in the regulation of the epithelial-mesenchymal transition by suppression of several epithelial proteins and adhesion molecules, including E-cadherin. METHODS: The aim of the present study was to examine the significance between the expression of Slug in colorectal adenocarcinoma (CRA) specimens and the clinicopathological parameters of CRA, as determined by immunohistochemical analysis, and to determine the correlation between the Slug and E-cadherin expressions in non-neoplastic colorectal mucosa (n=45), primary CRA (n= 109) and metastatic CRA (n=17). A semiquantitative scoring system was applied based on the intensity and extent of the positive immunohistochemical staining. RESULTS: The expressions of Slug and E-cadherin were associated with the depth of tumor invasion (pT) (p=0.019, p=0.001, respectively), and these expressions showed a significant inverse correlation (p<0.001) each other. CONCLUSIONS: Our results demonstrated a positive role for Slug in the development of CRA, and Slug is a mediator of tumor invasion in CRA. In addition, an up-regulated Slug expression is significantly correlated with the loss of an E-cadherin expression, which suggests that Slug may play some role in the epithelial-mesenchymal transition (EMT) by down-regulating the E-cadherin expression.
Adenocarcinoma ; Neoplasm Metastasis

BACKGROUND: Perfusion scintigraphy with dipyridamole have been reported to be useful for diagnosis of coronary artery disease and the assessment of the presence and extent of myocardium at ischemic risk, especially in patients who can not undergo dynamic exercise testing. Dipyridamole, pharmacologic coronary vasodilator, also induces fall in blood pressure and rise in heart rate. The purpose of this study was to answer the question if dipyridamole induced peripheral hemodynamic responses were related to chest pain, ST changes on EKG, scintigraphic defect or extent of coronary stenosis. METHODS: Dipyridamole 99mTc-MIBI myocardial scintigraphy and coronary angiography on 43 subjects who were suspected to have coronary artery disease. The peripheral hemodynamic response was graded as absent(group 0) if there was a < or =10mm fall in systolic blood pressure (SBP) and/or < or =10 beats/min rise in geart rate(HR) ; moderate(group 1) if there was >10 but < or =20mm fall in SBP and/or >10 but < or =20 beats/min rise in HR ; and marked (group 2) if there was >20mm fall in SBP and/or >20 beats/min rise in HR. RESULTS: The overall diagnostic sensitivity and specificity for coronary artery disease of dipyridamole perfusion scintigraphy were 68%, 83% while per vessel sensitivity and specificity for coronary artery disease were 66%, 97%. The numbers of induced chest pain and ischemic ST changes among hemodynamic subgroups, were 40%, 40% in group 0, 33%, 27% in group 1 and 50%, 40% in group 2 without significant difference in each hemodynamic subgroups. Either the numbers of diseased coronary arteries or the numbers of patients demonstrationg reversible scintigraphic defects were not statically different among each subgroups. CONCLUSION: Although the peripheral hemodynamic response dose not always correlate with its central coronary effect but dipyridamlole 99mTc-MIBI myocardial perfusion scintigraphy is an useful test for diagnosis of coronary artery disease.
Blood Pressure ; Chest Pain ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Stenosis ; Coronary Vessels* ; Diagnosis ; Dipyridamole* ; Electrocardiography ; Exercise Test ; Heart Rate ; Hemodynamics* ; Humans ; Myocardial Perfusion Imaging ; Myocardium ; Perfusion Imaging ; Sensitivity and Specificity

PURPOSE: This study estimated the prevalence of lower urinary tract symptoms (LUTS) in Korean men and the conditions for being diagnosed with or treated for LUTS/benign prostatic hyperplasia (BPH). METHODS: We analyzed cross-sectional data collected from 69,851 Korean men who were 40 years of age or older and had participated in the Korean Community Health Survey performed in 2011. Interviewers performed face-to-face surveys that included sociodemographic questions, the International Prostate Symptom Score (IPSS), and questions regarding whether the subjects had been diagnosed with or treated for LUTS/BPH. We estimated the prevalence of LUTS and assessed whether the subjects had been diagnosed with or treated for LUTS/BPH. RESULTS: Moderate to severe LUTS, storage symptoms, and voiding symptoms increased with age. The IPSS quality of life score was 1.5±0.004 in the mild LUTS group (n=57,701), 3.3±0.01 in the moderate LUTS group (n=9,203), and 4.3±0.02 in the severe LUTS group (n=2,947) (P<0.0001). The prevalence of moderate to severe LUTS in those who had not been diagnosed with LUTS/BPH was 64.5% (7,847 of 12,150), and the prevalence of moderate to severe LUTS in those who had been diagnosed with LUTS/BPH but had not been treated was 23.5% (2,853 of 12,150). CONCLUSIONS: The severity of LUTS in Korean men increased with age, and the IPSS quality of life score increased with the severity of LUTS. Many Korean men with moderate to severe LUTS had not been diagnosed or treated for LUTS/BPH. Socioeconomic conditions played an important role in health-seeking behavior among patients with LUTS/BPH.
Health Surveys* ; Humans ; Lower Urinary Tract Symptoms* ; Male ; Prevalence ; Prostate ; Prostatic Hyperplasia ; Quality of Life