Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder of the kidney characterized by the in ability to concentrate urine despite normal or elevated plasma concentration of the antidiuretic hormone agent vasopressin (AVP). We describe a case of congenital nephrogenic diabetes insipidus presenting with mild fever . The 3-day-old baby boy was admitted with mild fever. He has 6 members with DI in his family and his laboratoty finding showed hypernatremia, increased serum osmolarity and low level of urine specific gravity. Throughout the water deprivation test and the vasopressin test, he has been diagnosed as congenital NDI. Urinary free water loss was improved after treatment with hydrochlorothiazide and low salt formula. At the age 4 months, the infant has demonstrated normal growth and neurodevelopmental milestones. An early diagnosis of congenital NDI is very important, since the proper adequate management can prevent hyperosmolarity which might induce the delayed mental and physical development.
Diabetes Insipidus, Nephrogenic* ; Early Diagnosis ; Fever* ; Humans ; Hydrochlorothiazide ; Hypernatremia ; Infant ; Kidney ; Male ; Osmolar Concentration ; Plasma ; Specific Gravity ; Vasopressins ; Water Deprivation

Calvarial bone grafting in craniomaxillofacial trauma and facial reconstructive surgery is now widely recognized and accepted as a standard procedure. One of the commonly reported problems of calvarial bone graft is the contour defect caused by partial resorption of the graft. But, there are few reports that discuss the fate of the calvarial bone graft based on the quantitative data. In this article, the changes of grafted calvarial bone were evaluated using 3-dimensional computed tomography(CT). 9 patients were observed with the CT scans at 2mm thickness immediately after operation and at the time of last follow-up. The area of the bone defect was segmented on the 3-dimensional CT image and calculated by AnalyzeDirect 5.0 software. The immediate postoperative bone defect area of the recipient site and the donor site were 612.9mm2 and 441.5mm2, respectively, which became 1028.1mm2 and 268.8mm2, respectively at the last follow-up. In conclusion, the bone defect area was less increased on the donor site of calvarial bone graft than on the recipient site. And the CT scan is a valuable imaging method to assess and follow-up the clinical outcome of calvarial bone grafting.
Bone Transplantation ; Follow-Up Studies ; Humans ; Tissue Donors ; Tomography, X-Ray Computed ; Transplants*

Hypoxia, a common consequence of solid tumor growth in breast cancer or other cancers, serves to propagate a cascade of molecular pathways which include angiogenesis, glycolysis, and various cellcycle control proteins. As we have shown previously, hypoxia activates STAT5 (signal transducer and activator of transcription 5) and increases its binding activity to the GAS element in mammary epithelial cells. In this study we attempted to elucidate the mechanism by which cyclin D1 is regulated by the STAT5 protein under hypoxic conditions. Our data demonstrate that hypoxia (2% O2) or desferrioxamine (DFO) induces tyrosine and serine phosphorylation of STAT5 in human breast cancer cells (MCF-7) and mammary epithelial cells (HC11). Imunoprecipitation and subsequent Western analysis showed that Jak2 leads to the tyrosine phosphorylation and activation of STAT5a or STAT5b under hypoxic conditions. Using a transfected COS-7 cell model system, we demonstrate that the activity of a cyclin D1 promoter-luciferase construct increased under hypoxic conditions or DFO treatment. The activity of the STAT5b/cyclin D1 promoter increased significantly by 12 h of hypoxia, whereas the activity of the STAT5a/cyclin D1 promoter was unaffected under hypoxic conditions. These increases in promoter activity are predominantly mediated by the Jak2/ STAT5b signaling pathway. We have shown by EMSA that hypoxia induces STAT5 to bind to the cyclin D1 promoter (GAS-1) in MCF-7 and HC11 cells. These data suggest that STAT5b may mediate the transcriptional activation of cyclin D1 after hypoxic stimulation.
Anaerobiosis/genetics ; Animals ; Breast Neoplasms/*genetics/metabolism ; COS Cells ; Cell Hypoxia/genetics ; Cercopithecus aethiops ; Cyclin D1/*genetics ; Deferoxamine/pharmacology ; Female ; *Gene Expression Regulation, Neoplastic ; Humans ; Phosphorylation/drug effects ; Promoter Regions (Genetics) ; Protein-Tyrosine Kinase/*metabolism ; Proto-Oncogene Proteins/*metabolism ; Research Support, Non-U.S. Gov't ; Serine/metabolism ; Tumor Cells, Cultured ; Tyrosine/metabolism

PURPOSE: To evaluate the quantitative accuracy of three-dimensional (3D) images by means of comparing distance measurements on the 3D images with direct measurements of dry human skull according to slice thickness and scanning modes. MATERIALS AND METHODS: An observer directly measured the distance of 21 line items between 12 orthodontic landmarks on the skull surface using a digital vernier caliper and each was repeated five times. The dry human skull was scanned with a Helical CT with various slice thickness (3, 5, 7 mm) and acquisition modes (Conventional and Helical). The same observer measured corresponding distance of the same items on reconstructed 3D images with the internal program of V-works 4.0 TM (Cybermed Inc., Seoul, Korea). The quantitative accuracy of distance measurements were statistically evaluated with Wilcoxons' two-sample test. RESULTS: 11 line items in Conventional 3 mm, 8 in Helical 3 mm, 11 in Conventional 5 mm, 10 in Helical 5 mm, 5 in Conventional 7 mm and 9 in Helical 7 mm showed no statistically significant difference. Average difference between direct measurements and measurements on 3D CT images was within 2 mm in 19 line items of Conventional 3 mm, 20 of Helical 3 mm, 15 of Conventional 5 mm, 18 of Helical 5 mm, 11 of Conventional 7 mm and 16 of Helical 7 mm. CONCLUSION: Considering image quality and patient's exposure time, scanning protocol of Helical 5 mm is recommended for 3D image analysis of the skull in CT.
Cephalometry ; Humans ; Imaging, Three-Dimensional* ; Seoul ; Skull* ; Tomography, Spiral Computed ; Tomography, X-Ray Computed*

BACKGROUND: Although smoking is a major cause of chronic obstructive pulmonary disease (COPD), only 10-20% of cigarette smokers develop symptomatic COPD, which suggests the presence of genetic susceptibility. This genetic susceptibility to COPD might depend on variations in the activities of the enzyme that detoxify hazardous chemical products, such as microsomal epoxide hydrolase (mEPHX) and glutathione-S transferase M1 subunit (GSTM1) genes. METHODS: The genotypes of 58 patients with COPD, and 79 age matched control subjects, were determined by a polymerase chain reaction, followed by restriction fragment length polymorphism (PCR-RFLP) for the mEPHX, and multiplex PCR for the GSTM1. RESULTS: GSTM1 was deleted in 53.3% of the subjects. There was no difference in GSTM1 deletion rates between the COPD patients (32/58, 55.2%) and the control subjects (41/79, 51.9%). The combination patterns of two polymorphisms of mEPHX showed slow enzyme activity in 29(21.2%), normal in 73(53.3%) and fast in 32(23.4%). The COPD group (7/57, 12.3%) showed a significantly lower incidence of slow enzyme activity compared to the control subjects (22/77, 28.6%, p<0.05). However, when the COPD and control groups were compared with smokers only, there were no significant differences in the genotypes of GSTM1 and mEPHX. CONCLUSION: The genotypes of GSTM1 and mEPHX were not significant risk factors of COPD in this cohort of study.
Cohort Studies ; Epoxide Hydrolases ; Genetic Predisposition to Disease ; Genotype ; Humans ; Incidence ; Multiplex Polymerase Chain Reaction ; Polymerase Chain Reaction ; Polymorphism, Genetic* ; Polymorphism, Restriction Fragment Length ; Pulmonary Disease, Chronic Obstructive* ; Risk Factors ; Smoke ; Smoking ; Tobacco Products ; Transferases

The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis. (J Korean Neurol Assoc 19(2):173~175, 2001)
Adult ; Ataxia ; Atrophy* ; Brain ; Brain Stem ; Chromosomes, Human, Pair 12 ; Dementia ; Diagnosis ; Dilatation ; Female ; Fourth Ventricle ; Genes, vif ; Humans ; Magnetic Resonance Imaging ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Seizures ; Trinucleotide Repeats

The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis. (J Korean Neurol Assoc 19(2):173~175, 2001)
Adult ; Ataxia ; Atrophy* ; Brain ; Brain Stem ; Chromosomes, Human, Pair 12 ; Dementia ; Diagnosis ; Dilatation ; Female ; Fourth Ventricle ; Genes, vif ; Humans ; Magnetic Resonance Imaging ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Seizures ; Trinucleotide Repeats

Marchiafava-Bignami disease(MBD), characterized by the primary degeneration of the corpus callosum, is a rare complication of chronic alcoholism. Recently, a few cases of MBD with reversible neuro-imaging abnormalities were reported. A 58-year-old, chronic alcoholic man was admitted with mental change, dysarthria, and a seizure attack. A T2-weighted Brain magnetic resonance imaging demonstrated high signal intensities in the body and splenium of the corpus callosum, multiple white matter, and cortical gray matter. Treatment with a multiple vitamin complex resulted in a near complete recovery of neurological manifestation. A brain MRI obtained four weeks after admission revealed a dramatic resolution of previous imaging abnormalities. We report a case of Marchiafava-Bignami disease with reversible neuro-imaging abnormalities.
Alcoholics ; Alcoholism ; Brain* ; Corpus Callosum ; Dysarthria ; Humans ; Magnetic Resonance Imaging* ; Marchiafava-Bignami Disease* ; Middle Aged ; Neurologic Manifestations ; Seizures ; Vitamins

Profound hypothermia protects cerebral function during total circulatory arrest(TCA) in the surgical treatment of a variety of cardiac and aortic diseases. Despite its importance, there is no ideal technique to monitor the brain injury from ischemia. Since 1994, we have developed compressed spectral array(CSA) of electroencephalography(EEG) and monitored cerebral activity to reduce ischemic injury. The purposes of this study are to analyse the efficacy of CSA and to establish objective criteria to consistently identify the safe level of temperature and arrest time. We studied 6 patients with aortic dissection(AD, n=3) or aortic arch aneurysm(n=3, ruptured in 2). Body temperatures from rectum and esophagus and the EEG were monitored continuously during cooling and rewarming period. TCA with cerebral ischemia was performed in 3 patients and TCA with selective cerebral perfusion was performed in 3 patients. Total ischemic time was 30, 36 and 56 minutes respectively for TCA group and selective perfusion time was 41, 56 and 92 minutes respectively for selective perfusion group. The rectal temperatures for flat EEG were between 16.1 and 22.1 degrees C (mean:18.4+/-2.0); the esophageal temperatures between 12.7 and 16.4 degrees C(mean : 14.7+/-1.6). The temperatures at which EEG reappeared 5~15.4 degrees C for esophagus. There was no neurological deficit and no surgical mortality in this series. In summary, the electrical cerebral activity reappeared within 23 minutes at the temperature less than 16degrees C for rectum. It seemed that 15 degrees C of esophageal temperature was not safe for 30 minutes of TCA and continuous monitoring the EEG with CSA to identify the electrocerebral silence was useful.
Aorta, Thoracic ; Aortic Diseases ; Body Temperature ; Brain Injuries ; Brain Ischemia ; Electroencephalography ; Esophagus ; Humans ; Hypothermia* ; Hypothermia, Induced ; Ischemia ; Mortality ; Perfusion ; Rectum ; Rewarming

No abstract available.
Vietnam*