Chronic granulomatous disease (CGD) is one of congenital immunodeficient disease and a rare X-linked or autosomal recessive disease characterized by recurrent life- threatening infections and granuloma formation. We observed clinical features, laboratory findings and genetic subgroups of 33 children who were diagnosed with chronic granulomatous disease in the Department of Pediatrics, Seoul National University Children's Hospital. There were 23 males and 10 females. Activated NBT test of all patients revealed 0% positive cell and mothers of 15 patients had 25%- 75% normal neutrophils in the activated NBT test. According to the result of activated NBT test and family history, the ratio of X-linked and autosomal recessive inheritance was 2:3. There was a significant difference for the age at onset of the first infection in the different genetic subgroups. The X-linked group had the mean onset at 1.98 months of age and autosomal recessive group had a mean onset as late as 3.82 months (p<0.05). The most common type of the first infection was lymphadenopathies (41%) and other infections were skin pustules, fever, perianal abscess, pneumonia and chronic diarrhea. However, the age at diagnosis was not significant in the different genetic subgroups. Lymphadenitis (27%) was the most common infection, and pneumonia, gastrointestinal tract infection, skin infection were also common. The most common infectious agent was Candida sp. (5%) and other microorganisms involved were BCG, coagulase-negative staphylococcus, S. aureus, K/ebsiella pneumoniae, Aspergi/lus sp., and Enterococcus faecium. Chronic condition associated with CGD were hepatomegaly (59%), splenomegaly, and anemia of chronic disease, underweight, and lymphadenopathy. The leukocyte count of patients at diagnosis was within normal limit except in three patients and leukopenia was not observed in any of the patients. The humoral and cellular immunity and complement system were normal, but the level of Ig E in four patients was elevated. Early diagnosis of CGD can be made by suspicion if there are lymphadenitis after BCG vaccination and recurrent pyogenic infections under the first year of age. Though progression in the treatment of CGD, like gene therapy, is concerned, genetic counseling and prenatal diagnosis by carrier detection and molecular genetic analysis is thought to be necessary.
Abscess ; Anemia ; Candida ; Child ; Chronic Disease ; Complement System Proteins ; Diagnosis ; Diarrhea ; Early Diagnosis ; Enterococcus faecium ; Female ; Fever ; Gastrointestinal Tract ; Genetic Counseling ; Genetic Therapy ; Granuloma ; Granulomatous Disease, Chronic* ; Hepatomegaly ; Humans ; Immunity, Cellular ; Korea* ; Leukocyte Count ; Leukopenia ; Lymphadenitis ; Lymphatic Diseases ; Male ; Molecular Biology ; Mothers ; Mycobacterium bovis ; Neutrophils ; Pediatrics ; Pneumonia ; Prenatal Diagnosis ; Seoul ; Skin ; Splenomegaly ; Staphylococcus ; Thinness ; Vaccination ; Wills

PURPOSE: To determine the clinical association of diagnostic criteria and the prevalence of autoantibodies in newly diagnosed children with juvenile dermatomyositis(JDM). METHODS: Thirty-two children with JDM were identified at Seoul National University Children's Hospital from March 1985 to March 1999 by retrospective review. The diagnosis of JDM was based of the criteria proposed by Bohan and Peter. We investigated for the presence of several autoanti bodies: antinuclear(ANA), double-stranded DNA, anti-Sm, anti-ribonucleoprotein(RNP), anti-SSA/ SSB, anti-Jo1, anti-Scl-70 antibodies and rheumatoid factor(RF). RESULTS: Sex ratio and age at diagnosis were similar to data published in other studies. All the newly diagnosed children with JDM had a typical rash(100%) and proximal muscle weakness(100%); 17(53%) had muscle pain or tenderness; 10(31%) calcinosis; eight(25%) dysphagia; eight(25%) arthritis, and seven(22%) fever. Muscle enzymes were elevated in 90% of the patients. Of the 27 patients who had an electromyogram, 20(70%) had diagnostic results. Sixteen(70%) of biopsied patients had appropriated results for JDM. Patients were negative for all autoantibodies except ANA and RF. ANA and RF were detected in 47% and 7% of the patients respectively. CONCLUSION: Although the sensitivity of the criteria proposed by Bohan and Peter is superior, each of these criteria has possible confounding factors. Additional criteria may be needed for early diagnosis of JDM. Based on our findings of autoantibodies in JDM, we do not recommend routine testing for autoantibodies in children with typical JDM.
Antibodies ; Arthritis ; Autoantibodies* ; Calcinosis ; Child* ; Deglutition Disorders ; Dermatomyositis* ; Diagnosis ; DNA ; Early Diagnosis ; Fever ; Humans ; Myalgia ; Prevalence ; Retrospective Studies ; Seoul ; Sex Ratio

Recurrent parotitis, which is also known as juvenile recurrent parotitis, is characterized by a cyclic swelling of parotid glands associated with discomfort and/or pain in the absence of external inflammatory changes or progression to frank suppuration. It is usually accompanied by fever and malaise. Recurrent parotitis, following mumps, is the most common inflammatory salivary gland disease during childhood. Its etiology remains an enigma, but various etiologies have been suggested as causes, including infection, allergy, localized manifestations of systemic immunologic disorders, autoimmune diseases and hereditary or congenital abnormalities of salivary duct. Sialolithiasis may occur at any age. Its higher frequency is found between the 4th and 6th decade, but it is rare in the first decade. We currently experienced a 14-year-old boy with recurrent parotitis associated with sialolithiasis. One and a half year earlier this boy experienced right-sided parotid swelling, which subsided spontaneously over a few days. During the following year and a half period, he experienced three more short bouts of parotid swelling with mild pain, fever and malaise. The symptoms including swelling lasted from several days to 2 weeks and resolved spontaneously, independent of any treatment. Forty days ago diffuse swelling of his right parotid gland developed with pain and fever, which were more exacerbated during or after meals. Meanwhile, his left parotid gland also became swollen. Diagnosis for sialolithiasis was confirmed by sialographic findings showing the filling defect in the right parotid duct. We present a case of parotid parotitis with sialolithiasis in a child with a brief review of related literatures.
Adolescent* ; Autoimmune Diseases ; Child ; Congenital Abnormalities ; Diagnosis ; Fever ; Humans ; Hypersensitivity ; Male* ; Meals ; Mumps ; Parotid Gland ; Parotitis* ; Salivary Ducts ; Salivary Gland Calculi* ; Salivary Gland Diseases ; Suppuration

Myofascial pain syndrome (MPS) can be characterized by pain caused by trigger points (TrPs) and fascial constrictions. Patients with MPS of the gluteus minimus muscles often complain of symptoms such as hip pain, especially when standing up after sitting or lying on the affected side, limping, and pain radiating down to the lower extremities. A 24-year-old female patient presenting with motor and sensory impairments of both lower extremities was referred to our pain clinic after initially being diagnosed with lumbar radiculitis. Under the impression of MPS of the gluteus minimus muscles following through evaluation and physical examination of the patient, we performed trigger point injections under ultrasonography guidance on the myofascial TrPs. Dramatic improvement of the patient's symptoms was observed following this treatment, and she was discharged without any further remaining symptoms.
Constriction ; Deception ; Female ; Hip ; Humans ; Lower Extremity ; Muscles ; Myofascial Pain Syndromes* ; Pain Clinics ; Physical Examination ; Radiculopathy* ; Trigger Points ; Ultrasonography ; Young Adult

Both Fas and PMA can activate phospholipase D via activation of protein kinase Cbeta in A20 cells. Phospholipase D activity was increased 4 fold in the presence of Fas and 2.5 fold in the presence of PMA. The possible involvement of tyrosine phosphorylation in Fas-induced activation of phospholipase D was investigated. In five minute after Fas cross-linking, there was a prominent increase in tyrosine phosphorylated proteins, and it was completely inhibited by D609, a specific inhibitor of phosphatidylcholine-specific phospholipase C (PC-PLC). A tyrosine kinase inhibitor, genistein, can partially inhibit Fas-induced phospholipase D activation. There were no effects of genistein on Fas-induced activation of PC-PLC and protein kinase C. These results strongly indicate that tyrosine phosphorylation may in part account for the increase in phospholipase D activity by Fas cross-linking and D609 can block not only PC-PLC activity but also tyrosine phosphorylation involved in Fas-induced phospholipase D activation.
Animal ; Antibodies, Monoclonal/immunology/*pharmacology ; Antigens, CD95/immunology/*metabolism ; Bridged Compounds/*pharmacology ; Cell Line ; Cross-Linking Reagents ; Dose-Response Relationship, Immunologic ; Enzyme Activation ; Genistein/pharmacology ; Hydrolysis ; Lymphoma/pathology ; Mice ; Phospholipase C/*antagonists & inhibitors ; Phospholipase D/*metabolism ; Phosphorylation ; Phosphorylcholine/metabolism ; Solubility ; Thiones/*pharmacology ; Tumor Cells, Cultured ; Tyrosine/*metabolism ; Water/chemistry

Both Fas and PMA can activate phospholipase D via activation of protein kinase Cbeta in A20 cells. Phospholipase D activity was increased 4 fold in the presence of Fas and 2.5 fold in the presence of PMA. The possible involvement of tyrosine phosphorylation in Fas-induced activation of phospholipase D was investigated. In five minute after Fas cross-linking, there was a prominent increase in tyrosine phosphorylated proteins, and it was completely inhibited by D609, a specific inhibitor of phosphatidylcholine-specific phospholipase C (PC-PLC). A tyrosine kinase inhibitor, genistein, can partially inhibit Fas-induced phospholipase D activation. There were no effects of genistein on Fas-induced activation of PC-PLC and protein kinase C. These results strongly indicate that tyrosine phosphorylation may in part account for the increase in phospholipase D activity by Fas cross-linking and D609 can block not only PC-PLC activity but also tyrosine phosphorylation involved in Fas-induced phospholipase D activation.
Animal ; Antibodies, Monoclonal/immunology/*pharmacology ; Antigens, CD95/immunology/*metabolism ; Bridged Compounds/*pharmacology ; Cell Line ; Cross-Linking Reagents ; Dose-Response Relationship, Immunologic ; Enzyme Activation ; Genistein/pharmacology ; Hydrolysis ; Lymphoma/pathology ; Mice ; Phospholipase C/*antagonists & inhibitors ; Phospholipase D/*metabolism ; Phosphorylation ; Phosphorylcholine/metabolism ; Solubility ; Thiones/*pharmacology ; Tumor Cells, Cultured ; Tyrosine/*metabolism ; Water/chemistry

PURPOSE: To investigate the ocular findings, risk factors, and clinical outcomes in juvenile rheumatoid arthritis (JRA) patients. METHODS: JRA patients were classified to polyarticular, pauciarticular and systemic-onset type. We retrospectively analyzed the incidence of uveitis, cataract, elevation of intraocular pressure, and compared them to the type of JRA, gender, the presence of HLA B27 and antinuclear antibody. RESULTS: Acute uveitis in 14 patients (23.7%) of 59 patients manifested 20~37.5% evenly in JRA type except polyarticular rheumatoid factor positive type and systemic-onset type. Chronic uveitis occurred only in 2 pauciarticular type patients. In female, antinuclear antibody positive, HLA B27 positive and pauciarticular type the uveitis was more frequently occured. Cataract was occured in 7 patients (11 eyes, 10.2%), preceded by uveitis in 3 patients (3 eyes) and no history of uveitis in the others (8 eyes). The cataract surgery was performed in 3 patients (4 eyes) due to visual disturbance and then corrected visual acuities were more than 0.7 except one eye with band keratopathy. CONCLUSIONS: This study suggests that the ocular examinations are regularly required in cases of female, the presence of antinuclear antibody and pauciarticular type of JRA patients. Cataract surgery combined with posterior chamber intraocular lens implantation can be done with a good visual results in cases of poor vision.
Antibodies, Antinuclear ; Arthritis, Juvenile* ; Cataract ; Child* ; Female ; Humans ; Incidence ; Intraocular Pressure ; Lens Implantation, Intraocular ; Retrospective Studies ; Rheumatoid Factor ; Risk Factors ; Uveitis ; Visual Acuity

OBJECTIVE: To determine whether oxidants are formed as part of the cisplatin-induced apoptotic process, intracellular markers of oxidative stress were examined. METHODS: Apoptotic death of HeLa cells by cisplatin was confirmed by flow cytometry. RESULTS: The pre-treatment with glutathione (GSH) significantly attenuated cisplatin-induced apoptosis through the reduction of reactive oxygen species (ROS) accumulation and diminished caspases-3 and 9 protease activity. Furthermore, z-VAD-fmk, an inhibitor of pan-caspase, effectively inhibited the activation of caspases and prevented apoptosis by cisplatin, although cisplatin-induced ROS generation was not attenuated. CONCLUSION: These data indicate that ROS may play a role as an upstream mediator of caspases. Taken together, our results suggest that oxidative stress mediates cisplatin-induced apoptosis in HeLa cells.
Apoptosis* ; Caspases ; Cisplatin ; Flow Cytometry ; Glutathione ; HeLa Cells* ; Humans ; Oxidants ; Oxidative Stress* ; Reactive Oxygen Species

PURPOSE: Schizophrenia is a devastating mental disorder and is known to be affected by genetic factors. The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed as a candidate gene associated with the risk of schizophrenia. The secretory pathway for peptide hormones and neuropeptides in the brain is regulated by chromogranin proteins. The aim of this study was to investigate the potential associations between genetic variants of CHGB and schizophrenia susceptibility. MATERIALS AND METHODS: In the current study, 15 single nucleotide polymorphisms of CHGB were genotyped in 310 schizophrenia patients and 604 healthy controls. RESULTS: Statistical analysis revealed that two genetic variants (non-synonymous rs910122; rs2821 in 3′-untranslated region) were associated with schizophrenia [minimum p=0.002; odds ratio (OR)=0.72], even after correction for multiple testing (p(corr)=0.02). Since schizophrenia is known to be differentially expressed between sexes, additional analysis for sex was performed. As a result, these two genetic variants (rs910122 and rs2821) and a haplotype (ht3) showed significant associations with schizophrenia in male subjects (p(corr)=0.02; OR=0.64), whereas the significance disappeared in female subjects (p>0.05). CONCLUSION: Although this study has limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may have sex-specific effects on the risk of schizophrenia and provide useful preliminary information for further study.
Brain ; Chromogranin B ; Female ; Haplotypes ; Humans ; Male ; Mental Disorders ; Neuropeptides ; Odds Ratio ; Peptide Hormones ; Polymorphism, Single Nucleotide ; Schizophrenia* ; Secretory Pathway

The hyaline membrane disease is not a common disease in Korea. Only a few reports of small scale are avaiable in the literature. We have experienced 5 cases of HMD during approximately 1 year period. The diagnosis was made either on characteristic clinical and roentgenological features or postmortem examination. The birth weights of these cases were in the range of 1,000-1,500gm in 2 cases and 2,000-2,500gm in 3 cases. And their gestational age was 28-34 weeks in most of the cases. Three cases were delivered by C-section. There was 1 case of placenta previa. Four of these 5 cases died after average 18 hours postnatum. Postmortem findings in two cases were characterized by typical hyaline membrane lining th respiratory bronchioles and alveolar ducts. Other prominent findings were atelectasis, interstitial edema and congestion and lymphatic dilatation. One case complicated with multifocal bronchopneumonia and perinatal telencephalic leukoencephalopathy. The other case showed acute subarachnoid hemorrhage probably from germinal matrix hemorrhage.
Autopsy* ; Birth Weight ; Bronchioles ; Bronchopneumonia ; Diagnosis ; Dilatation ; Edema ; Estrogens, Conjugated (USP) ; Gestational Age ; Hemorrhage ; Humans ; Hyalin* ; Hyaline Membrane Disease* ; Infant, Newborn ; Korea ; Leukoencephalopathies ; Membranes ; Placenta Previa ; Pulmonary Atelectasis ; Subarachnoid Hemorrhage