The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
Chromosomes, Human, Pair 9 ; Corneal Opacity ; Female ; Fluorescence ; Humans ; In Situ Hybridization ; Infant ; Intellectual Disability ; Polycystic Kidney Diseases

This study was undertaken for the clinical analysis and evaluation on 121 patients with incompetent internal os of the cervix, who were admitted and treated with McDonald operation or Shirodkar operation at the Soonchounhyang Medical Center from January 1991 to December 1995. The results of this study were as follows : 1. The incidence of this IIOC was 1.1% of 11,116 cases of total delivery. 2. The mean age of IIOC was 31.7 years old. 3. The average number of gravida was 3.2. 4. The most common contributary factor was previous history of artificial abortion (51.2 %), and midtrimester abortion (17.4 %), cervical laceration due to previous vaginal delivery (8.3 %) etc. was followed. 5. The success rate of operation was 76 %, and the highest success rate (85.7 %) was reveald with period from 15th weeks to 16th weeks of gestation. 6. When cervical dilatation was abscent or small, the success rate of operation was high. 7. The factors of failed operation were preterm labor (58.7 %), PROM (34.5 %), and PIH, bleeding. 8. The delivery method after operation was vaginal delivery in 83 cases (68.6%) and cesarean section in 38 cases (31.4 %).
Cervix Uteri* ; Cesarean Section ; Female ; Hemorrhage ; Humans ; Incidence ; Labor Stage, First ; Lacerations ; Obstetric Labor, Premature ; Pregnancy ; Pregnancy Trimester, Second

No abstract available.
Education ; Humans

No abstract available.
Humans ; Hypophosphatemia*

Periodic alternating nystagmus(PAN) is a form of spontaneous nystagmus with a specific pattern. It may be of congenital origin in many cases, and may be related to vestibulo-cerebellar system disease. It usually causes not only many ophthalmic problems such as decreased vision but also neurologic symptoms such as ataxic gait. So, ophthalmologist must perform both ophthalmic and neurologic examinations. Nystagmus can be treated with muscle relaxant. We report our experience about 30-year-old woman who complained of involuntary ocular movement and ataxic gait, and were diagnosed as PAN associated with Chiari-1 malformation and syringomyelia through electronystagmography and brain MRF.
Adult ; Brain ; Electronystagmography ; Female ; Gait ; Humans ; Neurologic Examination ; Neurologic Manifestations ; Nystagmus, Pathologic* ; Syringomyelia*

Objective and METHOD: In order to identify the aggravating agents for intrinsic asthma, we performed ASA- and food additive-challenge tests on 182 subjects diagnosed as having intrinsic asthma. The following tests were performed: Lysine-aspirin bronchoprovocation test to confirm aspirin-sensitivity, sodium bi-sulfite (40-200mg) oral provocation test for sulfite sensitivity, tartrazine oral provocation test (50mg) for tartrazine sensitivity, and sodium benzoate (400mg) oral provocation test for sodium benzoate sensitivity. Positive reaction was defined as decrease in FEV, by more than 20% from the baseline value after the provocation. RESULT: Seventy-five (41.2%) of 182 subjects showed positive responses to more than one agent among the aspirin and three food additives challenged. The prevalence of aspirin-sensitivity was the highest (22.5%), followed by sulfite-sensitivity (8.8%), and then concurrent sensitivity to both aspirin and sulfite (6.0% ), to both aspirin and tartrazine (1.6% ), to aspirin, sulfite and tartrazine (1.1%) and to aspirin, sulfite and sodium benzoate (0.5%). Rhino-sinusitis was noted in 62.5% of aspirin-sensitive asthmatic subjects, 60% of sulfite-sensitive ones, and 80% of tartrazine-sensitive ones. Urticaria was noted in 21.4% of aspirin-sensitive asthmatic subjects, 16.6% of sulfite-sensitive ones and 6.3% of tartrazine-sensitive ones. Thirty-seven to 83% of positive responders had no adverse reaction history. CONCLUSION: These findings suggest that ASA and food additive challenge tests should be considered as a screening test to evaluate any aggravating factors in subjects with intrinsic asthma, even though they may not have experienced any adverse reactions.
Aspirin* ; Asthma* ; Food Additives* ; Mass Screening ; Prevalence ; Sodium ; Sodium Benzoate ; Tartrazine ; Urticaria

BACKGROUND AND OBJECTIVES: Fulminant invasive fungal sinusitis (IFS) is an aggressive, destructive disease most commonly affecting the immunocompromised hosts. This study aimed to investigate the clinical features of invasive fungal sinusitis and to determine its prognostic factors. MATERIALS AND METHOD: Fifteen cases of invasive fungal sinusitis were retrospectively reviewed. Prognosis was analyzed according to predisposing factors including the underlying disease, the extent of disease, the mycotic species, and treatment modalities. RESULTS: Overall 5-year survival rate of the patients with IFS was 60%. There was significant survival gain in the group for which underlying disease was well controlled (p=0.04). There was no difference in survival in terms of mycotic species and extent of disease at presentation. No statistically significant difference in survival was observed between the conservative surgery and the radical surgery group. CONCLUSION: Survival is usually determined at the very early period of treatment. The most important prognostic factor is not the surgical modalities including wide surgical resection or conservative debridement, but the optimal control of underlying disease.
Causality ; Debridement ; Fibrinogen ; Humans ; Immunocompromised Host ; Prognosis ; Retrospective Studies ; Sinusitis* ; Survival Rate

Polymyositis(PM) is one of idiopathic inflammatory myopathy, characterized by proximal muscle weakness, myalgia and muscle enzyme elevation. Currently the main pathogenesis is well documented, the cell-mediated immunity. We experienced a case of polymyositis associated with hepatitis, developed after hepatitis B virus(HBV) infection. This virus-induced autoimmunity seems to result from the cross-reactivity between muscle protein and B-viral antigen, so called antigenic mimicry. This relation of PM and HBV is more significant in Korea because of the epidemicity of HBV infection.
Autoimmunity ; Hepatitis B virus ; Hepatitis B* ; Hepatitis* ; Immunity, Cellular ; Korea ; Molecular Mimicry ; Muscle Proteins ; Muscle Weakness ; Myalgia ; Myositis ; Polymyositis*

Angioedema is a well-demarcated localized edema involving the deeper layers of the skin, including the subcutaneous tissue. Angioedema occurs with Cl esterase inhibitor (Cl INH) deficiency that may be inborn as an autosomal dominant characteristic or may be acquired. Acquired angioedema (AAE) is a rare disorder characterized by adult onset and lack of evidence of inheritance of the disease. Two types of AAE are known today: type I in which there are lowering of functional Cl INH, an underlying disease such as a B-cell disease, and no detectable autoantibodies to Cl INH, type II with anti Cl INH autoantibodies in the circulation without detectable underlying disease and with depressed functional Cl INH levels. We experienced a case of angioedema in a 29-year old man. He had no family history of angioedema and laboratory data showed depressed Cl-INH levels. We diagnosed the case as acquired type of angioedema. Even though we could not measure anti-Cl INH auto-antibodies, we identified the case as type II because there was no evidence of underlying disease.
Adult ; Angioedema* ; Angioedemas, Hereditary* ; Autoantibodies ; B-Lymphocytes ; Complement C1 Inhibitor Protein* ; Complement C1s* ; Edema ; Humans ; Skin ; Subcutaneous Tissue ; Wills

BACKGROUND: The testes are one of the most common extramedullary sites of relapse in boys with acute lymphoblastic leukemia(ALL). The reported incidence of isolated testicular relapse varies from 3 to 40%. If these patients are treated exclusively with testicular irradialion, a systemic relapse occurs within a few months. Recently, the use of intensive chemotherapy and testicular irradiation improved the survival rate for boys with testicular leukemia. So, we performed this study to identify clinical manifestations, disease free survival and prognostic factors of testicular leukemia in children. METHODS: We reviewed 33 patients of testicular leukemia among total 410 boys with ALL diagnosed at the Department of Pediatrics, Seoul National University Children's Hospital from Jan. 1970 to Aug. 1996. Testicular leukemia was confirmed by testicular biopsy in all 33 patients. These patients were treated with combined local testicular irradiation(2,400~2,500 cGy/8~12fractions) and systemic chemotherapy. Two patients, in whom testicular relapse was diagnosed before 1979, unilateral orchiectomy of the involved site and testicular irradiation of the opposite site were performed. Probability estimates of disease free survival (DFS) were calculated by the method of Kaplan and Meier, and the relationship of prognostic factors to DFS was compared using the chi-square test in survival analysis. RESULTS: In 410 boys with ALL, testicular leukemia occurred in 33 patients(8%). Of 33 patients, 6 patients presented with testicular involvement at initial diagnosis, 16 patients had testicular relapse while still receiving chemotherapy and 11 patients had testicular relapse 3 to 57 months(median : 15 months) after cessation of chemotherapy. The median age of 33 patients was 7.4 yrs(9 months~18 yrs) and median WBC count 7,600/ L(2,700~270,000/L). All patients presented with painless testicular enlargement and testicular leukemia was confirmed by testicular biopsy. Among 33 patients, 2 had prior CNS relapse and 11 had concomitant bone marrow and/or CNS relapse. Twenty nine patients were treated with combined local testicular irradiation and systemic chemotherapy. Eleven had second relapse(6 bone marrow, 3 CNS, 2 opposite testis). Seventeen have been followed until now: 6 patients on chemotherapy and 11 patients(37.9%) in complete remission for 48.5+/-22.3 months(19~86 months). The 3 year DFS for 29 patients was 55.3%+/-10.1%. The following prognostic factors showed no significant association with DFS in testicular relapse : age and WBC count at initial diagnosis, age at testicular relapse, and concomitant relapse. Whether testicular relapse occurred on initial therapy or off initial therapy has prognostic value in predicting DFS. The 3 year DFS for boys with testicular relapse on and off initial therapy were 40.0%+/-12.9% and 78.8%+/-13.4%, respectively(P: 0.046). CONCLUSION: With the use of chemotherapy and testicular irradiation, prolonged second re mission can be achieved in many patients with testicular leukemia. The patients with testicular relapse off initial therapy fared significantly better than patients on therapy. So, to improve the DFS for boys with testicular leukemia, a better understanding of its biology and prognostic factors is needed.
Biology ; Biopsy ; Bone Marrow ; Child ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Humans ; Incidence ; Leukemia ; Missions and Missionaries ; Orchiectomy ; Pediatrics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence ; Seoul ; Survival Rate ; Testis