Chronic granulomatous disease(CGD) is a genetically inherited disorder caused by the failure of phagocytic cells to produce superoxide. It is characterized by frequent and uncontrollable infection which often lead to death in early childhood. The first clinical signs may be confined to skin and manifest themselves as abscesses, pyoderma, eczema or draining sinuses. The disease was first reported in 1957 and thereafter the biomolecular mechanism has been found. The first report in Korea was an autopsy case in 1979 and since then there have been a few case reports. This disease is diagnosed by symptoms, such as high fever, cervical lymphadenopathy, skin nodule, lung field infiltration, periumbilical abscess, liver abscess, pyoderma and pericordal abscess. The pathogen here were catalase producing bacteria and fungi. However, we have experienced a case of CGD, in which symptoms were perianal, scrotal abscesses and lung field nodular infiltration. In this case the pathogen was found as a catalase negative Enterococcus. (J Korean Pediatr Soc 2000;43-846-850)
Abscess ; Autopsy ; Bacteria ; Catalase ; Eczema ; Enterococcus ; Fever ; Fungi ; Granulomatous Disease, Chronic* ; Korea ; Liver Abscess ; Lung ; Lymphatic Diseases ; Phagocytes ; Pyoderma ; Skin ; Superoxides

This study was conducted to study the changes of cell surface carbohydrates during transdifferentiation of retinal pigment epithelial(RPE)cells. RPE cells were cultured from adult pig eyes. Surface carbohydrates of RPE cells from 1st, 3rd, 5th, 7th and 9th passages were assayed by lectin histochemistry and enzyme immunoassay. Changes in binding affinities to the lectins employed were demonsrated during trasdifferentiation of RPE cell. Whereas binding affinities of ConA, ECL, PNA, WGA, and UEA-I decreased graudally as the number of culture passage increased, binding properties to LCA, STL and DBA fluctuated depending on the number of passages. The results demonstrate changes of surface carbohydrates of RPE cell during trasdifferentiation. We suggest that changes of surface carbohydrates of RPE cell during trasdifferentiation may be close relations with the functional changes during transdifferentiation.
Adult ; Carbohydrates ; Epithelial Cells* ; Humans ; Immunoenzyme Techniques ; Lectins ; Retinaldehyde*

It is well known that both acute glomerulonephritis and rheumatic fever are a common sequelae of group A streptococcal infection. However, their simultaneous occurrence is uncommon. Only a few cases have been reported because they are different in epidemiologic, clinical, serologic and immunopathogenic characteristics. We experienced a 10-year-old boy who presented the manifestation of acute rheumatic fever and acute poststreptococcal glomerulonephritis. We report this case with brief review of literature.
Child ; Glomerulonephritis* ; Humans ; Male ; Rheumatic Fever* ; Streptococcal Infections

Since Alfi et al. first described the 9p deletion syndrome in 1973, approximately 40 cases with deletion of the chromosome 9p have been reported. These patients have multiple anomalies in craniofacies, limbs, and cardiovascular system, and mental retardation. In most cases, the breakpoint is located at the band 9p22 and the deletion is de novo. We report a neonate with 9p deletion syndrome diagnosed by clinical features and chromosomal analysis. He had multiple anomalies such as up slanting of palpebral fissures, epicanthal folds, arched eyebrows, anteverted nares, cleft palate, micrognathia, pectus excavatum, widely spaced nipples, cryptorchidism, atrial septal defect, tricuspid regurgitation (grade : III) and persistent muscle hypotonia.
Cardiovascular System ; Cleft Palate ; Cryptorchidism ; Extremities ; Eyebrows ; Funnel Chest ; Heart Septal Defects, Atrial ; Humans ; Infant, Newborn ; Intellectual Disability ; Male ; Muscle Hypotonia ; Nipples ; Tricuspid Valve Insufficiency