GATA1 Mutation in Transient Myeloproliferative Disorder of Down Syndrome / 대한혈액학회지

Children with Down syndrome (DS) have a higher risk of developing leukemia than do healthy children, and they especially have a higher risk for developing transient myeloproliferative disorder (TMD) or acute megakaryocytic leukemia (AMKL). In recent studies, it has been reported that most of these patients have acquired mutation of the GATA1 gene, which encodes the erythroid/megakaryocytic transcription factor GATA1. GATA1 mutations have not been found in AMKL patients who did not have DS and other hematologic malignancies in DS. Most of the GATA1 mutations in DS-TMD/AMKL are nonsense mutations that are mainly located in exon 2. We observed a nonsense mutation in exon 2 of GATA1 [c.189_190delCA (Tyr63X)] in one case of DS-TMD. The GATA1 mutation has been thought to be an early event in the leukemogenesis of DS-TMD/AMKL and it could be used as a stable molecular marker to assess the treatment response or to monitor for the recurrence of DS-TMD/AMKL.

Clinical Features of Neonatal Candida Meningitis and Usefulness of Ultrasound Examination

BACKGROUND: Candida species are becoming one of the most common pathogens associated with nosocomial infection in the neonatal intensive care units (NICU). This study was undertaken to investigate the clinical features and radiologic findings of meningitis complicating candida sepsis in the neonates. MATERIALS AND METHODS: Seventy-two neonates with Candida sepsis admitted to the NICU of Dongsan Medical Center, Keimyung University from Jan. 1997 to Dec. 2003 were enrolled. Medical records and serial radiologic images were reviewed retrospectively performed. RESULTS: Among a total of 72 patients with candida sepsis, meningitis developed in 12 cases (17%) and C. albicans was the only causative organism. Cerebrospinal fluid (CSF) analysis:showed pleocytosis in 9 cases (75%), protein elevation and candidal isolation in 7 cases (58%) each, and hypoglycorrhachia in 3 cases (25%). Of the 66 cases that underwent serial ultrasound examination, multiple cerebral microabscess was observed in 9 cases (14%); these lesions were also found on the brain MRI taken after the end of treatment in 7 cases (78%). In 2 cases (17%) without initial abnormal CSF findings, diagnosis was made through early ultrasound examination. In limited study of 49 neonates with C. albicans sepsis, demographic characteristics and risk factors between two groups (group 1:with meningitis, group 2:without meningitis) were similar, but fever or seizure at the onset of infection was more common in group 1 (P<0.05). The mortality rate was also higher in group 1, but it was not statistically significant. CONCLUSIONS: Candida meningitis is common in neonates with C. albicans sepsis and findings of CSF study were variable. Therefore, serial ultrasound examination may be of help in making correct diagnosis of central nervous system involvement.

Clinical Features of Neonatal Candida Meningitis and Usefulness of Ultrasound Examination

BACKGROUND: Candida species are becoming one of the most common pathogens associated with nosocomial infection in the neonatal intensive care units (NICU). This study was undertaken to investigate the clinical features and radiologic findings of meningitis complicating candida sepsis in the neonates. MATERIALS AND METHODS: Seventy-two neonates with Candida sepsis admitted to the NICU of Dongsan Medical Center, Keimyung University from Jan. 1997 to Dec. 2003 were enrolled. Medical records and serial radiologic images were reviewed retrospectively performed. RESULTS: Among a total of 72 patients with candida sepsis, meningitis developed in 12 cases (17%) and C. albicans was the only causative organism. Cerebrospinal fluid (CSF) analysis:showed pleocytosis in 9 cases (75%), protein elevation and candidal isolation in 7 cases (58%) each, and hypoglycorrhachia in 3 cases (25%). Of the 66 cases that underwent serial ultrasound examination, multiple cerebral microabscess was observed in 9 cases (14%); these lesions were also found on the brain MRI taken after the end of treatment in 7 cases (78%). In 2 cases (17%) without initial abnormal CSF findings, diagnosis was made through early ultrasound examination. In limited study of 49 neonates with C. albicans sepsis, demographic characteristics and risk factors between two groups (group 1:with meningitis, group 2:without meningitis) were similar, but fever or seizure at the onset of infection was more common in group 1 (P<0.05). The mortality rate was also higher in group 1, but it was not statistically significant. CONCLUSIONS: Candida meningitis is common in neonates with C. albicans sepsis and findings of CSF study were variable. Therefore, serial ultrasound examination may be of help in making correct diagnosis of central nervous system involvement.

A Case of Bronchiolitis Obliterans Organizing Pneumonia Developed after Treatment of Acute Myelogenous Leukemia (M2) with Chloroma and Retinopathy / 대한소아혈액종양학회지

Chloroma, a tumor consisted of primitive myeloid cells and located in extramedullary tissues, usually develops during or preceding the course of systemic leukemia, particularly acute myelogenous leukemia (FAB M2) with translocation between chromosomes 8 and 21. Leukemic retinopathy which observed rarely in children than adults, generally related to thrombocytopenia and anemia in leukemic patients. Bronchiolitis obliterans organizing pneumonia (BOOP) is unusual clinicopathologic syndrome in association with a variety of causes or conditions, and histologically defined by the presentation of granulation tissue plugs consisting of fibroblasts and collagen within the lumen of the distal air space. We experienced a 12-year old girl who presented with weakness and ocular pain. She was diagnosed with acute myeloid leukemia with chloroma and retinopathy, and treated with chemotherapy (daunomycin, ara-C, thioguanine, etoposide. mitoxantrone, cyclosporin). Five weeks after the chemotherapy, she developed coughing and persistent fever, and diagnosed with BOOP, which resolved completely after prednisolone therapy.

Clinical Observation upon Surgical Experience in the Douloureux

The purpose of this report is to present the results of clinical observation upon 21 surgical cases with tic douloureux (female 13, male 8) during the period from January, 1960 to August, 1972 at the Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea. The average age at onset was 48 years of age ranging from 22 to 66 years. The average duration from onset to operation was 5 years. The frequency of involvement was the highest in the maxillary division, next was maxillary and mandibular division, and none in the ophthalmic division. Whole division was involved in one case. Right-sided involvement predominated by a ratio of 2 to 1 and bilateral involvement was found in only one case. Extraction of innocent teeth, ungratifying operation upon paranasal sinus had been carried out in 11 cases as consequence of misdiagnosis. Alcohol injection of peripheral branches of trigeminal nerve and medical treatment produced short-lived or none-effectiveness. Trauma to ipsilateral mandible and epidermoid cyst at cerebellopontine angle seemed to be the cause of tic doulourex in 2 cases, respectively. Major complications observed in Frazier's method group, were paresthesia, facial nerve palsy, partial paralysis of motor root, and recurrence of neuralgia. All of the peripheral nerve avulsion group developed recurrence of pin within three years. Mild decrease of cornea reflex was noted in two cases of Dandy's method group. Posterior fossa operation stands in superiority, when it is considered that some pathologic lesions are frequently found in the posterior fossa, that motor root is less frequently injured, and that the light touch is so fairly preserved in all three divisions that the least damage to the cornea is expected.