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

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*

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

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

No abstract available.
Empyema, Tuberculous* ; Lymphoma, Non-Hodgkin* ; T-Lymphocytes*

BACKGROUND: The number of illegal migrant workers has been increasing in Korea since late 1997 in what was called the IMF era. This study was conducted to evaluate and to recognize the medical utilization and health Status for migrant workers in Korea. The goal of this study was to understand the epidemiological characteristics of the migrant workers and family physician's role as a health provider and gate keeper to them and to provide basic data for public health policy. METHODS: In September 1999, self-administered questionnaires were distributed to the migrant workers in Seoul, Sung-Nam, Pucheon and An-Yang. We classified the reasons for clinical encounters and the prescribed drugs by reviewing the medical records of all patients who visited a clinic of shelter for migrant workers in Sung-Nam from January to December 1998 and analysed the report according to death certification of the shelter for migrant workers in Sung Nam from 1994 to September 1999 RESULTS: The major distribution of nationality were from China, Mongo, and Bangladesh (86.9 %). They were mostly between 30 and 39 years old, males are, and unmarried. Most had high school education. The average income was 756,700 won and the average working hours were 11.5 hours per day in migrant workers being in worse condition than those of Korean workers. Classified according to systems, the respiratory(21.2%), musculoskeletal (20.6%), digestive(15.8%), and cardiovascular(12.5%) symptoms were common. Repayment for death was different between before (87.7%) and after IMF era (13.0%), in late 1997. Average medical expenditure was 43,552 won comprising 5% of the total income of subjects only. Most of them did not benefit from medical insurance. CONCLUSION: Migrant workers' situation seemed poor. The patterns of the disease' were similar to those who visit family medicine clinics in general. Family physicians should take more interest in providing a more effective and better care to migrant workers.
Adult ; Bangladesh ; Certification ; China ; Education ; Ethnic Groups ; Gyeonggi-do ; Health Expenditures ; Humans ; Insurance ; Korea* ; Male ; Medical Records ; Physician's Role ; Physicians, Family ; Public Health ; Seoul ; Single Person ; Transients and Migrants* ; Surveys and Questionnaires