No abstract available.
Aneurysm ; Aneurysm, Ruptured* ; Cerebral Veins* ; Veins*

Ninety three patients, who sustained craniocerebral injuries were studied and followed up for detection of syndrome of inappropriate secretion of antidiuretic hormone from their admission to the time of their recovery. Their electrolytes in serum and urine, and fluid balance were examined at frequent intervals. Ten cases have manifested. "The Syndrome of the Inappropriate Secretion of Antidiuretic Hormone"(S.I.S.A.D.H.). 1. For the detection of the presence of S.I.S.A.D.H., body weight, fluid balance, central venous pressure, sodium, potassium, chloride, B.U.N. and creatinine content of the serum as well as sodium, potassium, chloride, B.U.N. and creatinine content of the serum as well as sodium, potassium, chloride and 17-ketesteroid content of 24 hours urine specimen had been measured every 2 or 3 days interval, from their admission. 2. To establish the diagnosis of S.I.S.A.D.H., the following conditions were observed. First, there was no evidence of dehydration, second, the level of the sodium content of the serum was decreased below 125mEq/L and third, the amount of urinary sodium was persistently increased. However the functions of the kidney and adrenal gland were normal. 3. In the cases of S.I.S.A.D.H. among Korean craniocerebral injuries, the amount of sodium excreted in the urine was above 110mEq/L. On the other hand, 27 Koreans without craniocerebral injury or pulmonary complication, who had hospital diet which contained about 15gms. of NaCl, the average value of sodium excreted in the urine was 95mEq/L although there had been great individual differences. 4. Out of 33 patients with brain contusion, 4 manifested S.I.S.A.D.H., 27 with epidural hematoma there were 4 cases, of 15 cases of subdural hematoma, there was one case and also one cases of S.I.S.A.D.H. was found among the 11 cases of compound comminuted depressed fracture of the skull. 5. Among the 93 cases of craniocerebral injuries, 10 of them which is equivalent to 10.8% developed S.I.S.A.D.H. In there cases, improvement of the syndrome was observed in a few days by limitation of daily in take to 600cc. The patient who has shown rather severe hyponatremia, the condition was improved by parenteral injection of 3% saline solution with fluid restriction. 6. Among the cases with S.I.S.A.D.H. it was discovered that 3 of them had infection or complications of the lung. 7. Clinical findings among these patients with S.I.S.A.D.H. were:Three cases had mental disturbance, two with anorexia, one had vomiting and one with convulsions. In all the cases consciousness and muscular activity were somewhat impaired. 8. Aside from the patients with craniocerebral injuries, S.I.S.A.D.H. was observed in one case of aneurysm of the anterior communicating artery.
Adrenal Glands ; Aneurysm ; Anorexia ; Arteries ; Body Weight ; Brain Injuries ; Central Venous Pressure ; Consciousness ; Craniocerebral Trauma ; Creatinine ; Dehydration ; Diagnosis ; Diet ; Electrolytes ; Hand ; Hematoma ; Hematoma, Subdural ; Humans ; Hyponatremia ; Individuality ; Kidney ; Lung ; Potassium ; Seizures ; Skull ; Sodium ; Sodium Chloride ; Vomiting ; Water-Electrolyte Balance

A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances. We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46, XX, -15,t (15 q, 21 q). Diagnosis was confirmed by brain MRI and autopsy, The patient died about 20 hours of age and autopsy was done. A brief review of the literatures was also presented.
Autopsy ; Brain ; Diagnosis ; Forehead ; Holoprosencephaly ; Humans ; Magnetic Resonance Imaging ; Neural Plate ; Skull

We report an autopsy case of neonatal giant cell hepatitis that was presumed to be related to bacterial sepsis, endotoxemia and to the subsequent parenteral alimentation and antibiotics treatment. The patient died of candidal endocarditis and multiple brain infarcts. This female baby was born by a normal full term spontaneous delivery. Six days after delivery she developed fever and lethargy as she suffered from Cheyne-Stokes respiration with severe grunting. Blood culture grew Enterobacter and Acinetobacter. After management of the sepsis her general condition improved. On the 23rd day of admission she was found to have deep jaundice and hepatosplenomegaly. The liver became larger progressively and the edge was palpable at the umbilical level. Grade II systolic murmur was heard along the left lower sternal border. She died on the 31st day of hospitalization. Postmortem examination showed severe jaundice, hepatosplenomegaly, a large vegetation on the mitral valve and multiple petechial hemorrhages of the viscera. Microscopically the liver showed features of massive giant cell transformation, mild fibrosis and inflammatory cells, suggestive of giant cell hepatitis. Numerous yeasts and candidal pseudohyphae were seen in the cardiac vegetation, focally extending into the myocardium. There was a focus of candidal vasculitis in the bowel wall. In addition there were multiple bilateral organizing infarcts in the cerebral hemisphere as well as diffuse white matter damage associated with septicemia.
Female ; Infant, Newborn ; Humans

One hundred eighty infants with oxygen therapy who were under 2,500gm birth weight or under 37 weeks of gestational age, were examined between January 1990 and November 1992. We performed clnical analysis and results were as follows. 1) Fifty six infants (31.1%) were diagnosed as retinopathy of prematurity. 2) The first examination was performed at 2.5 weeks of life on average, and the retinopathy of prematurity was diagnosed at 3.8 weeks on average. 3) The incidence of retinopathy of prematurity was highly associated with low birth weight (< or =1,890 gm), low gestational age ( < or =33.1 weeks), and high oxygen concentration with long duration (FiO2> or =0.4 over 1 week)(P<0.005). 4) Other associated risk factors were idiopathic respiratory distress syndrome, anemia, neonatal hypoxia and sepsis.
Anemia, Neonatal ; Anoxia ; Birth Weight ; Gestational Age ; Humans ; Incidence ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Oxygen ; Retinopathy of Prematurity* ; Risk Factors ; Sepsis

No abstract available.
Goldenhar Syndrome*

The unilateral megalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia caused by faulty migration of the subependymal neuroblasts. We experienced a case of unilateral megalencephaly in a two day-old male with the chief complaint of asymmetric head appearance. Large left hemisphere with agyria, pachygyria, dilatation of lateral ventricle, and the thick cortex of the ipsilateral hemisphere were showed in brain MRL, Clinical findings in this case were intractable seizure, hemiparesis, and psychomotor retardation. A review of literatures was also presented briefly.
Brain ; Dilatation ; Head ; Humans ; Lateral Ventricles ; Lissencephaly ; Male ; Malformations of Cortical Development ; Paresis ; Seizures

BACKGROUND: Vitamin D has been recently shown to play important roles in the functioning of various systems. Most of the current analytical methods for measuring vitamin D levels are based on immunoassays. We simultaneously measured the levels of 25-hydroxyvitamin D3 [ 25(OH)D3 ] and 25-hydroxyvitamin D2 [ 25(OH)D2 ] in human serum by performing ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) after Diels-Alder derivatization with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) and evaluated the performance of our method. METHODS: After liquid-liquid extraction, samples were dried under N2 at 50degrees C for 1 hr followed by Diels-Alder derivatization with ethyl acetate containing 0.1 mg/mL PTAD. The samples were resuspended in 60 microL of methanol:10 mM ammonium formate solution (1:1, V/V). C18 UPLC column and positive ion multiple reaction monitoring transitions such as m/z 558.35-->298.1, 25(OH)D3; m/z 570.35-->298.1, 25(OH)D2; and m/z 564.35-->298.1, hexadeuterated-25(OH)D3 were used for UPLC-MS/MS. RESULTS: The within-run imprecision (CVs) for 25(OH)D3 and 25(OH)D2 were 3.5-4.0% and 3.8-4.2%, respectively, and the corresponding between-run CVs were 3.3-5.5% and 4.7-5.8%. The lower limit of quantification for 25(OH)D3 and 25(OH)D2 were 0.5 and 1.0 ng/mL, respectively. The curve for interassay calibration variability data obtained over concentrations of 0-120 ng/mL for 25(OH)D3 and 0-90 ng/mL for 25(OH)D2 was linear and reproducible [ 25(OH)D3, R2=0.993; 25(OH)D2, R2=0.998]. The total 25(OH)D levels in Koreans (average, 18.7 ng/mL) were lower than those in American Caucasians, and the percentage of people with total 25(OH)D levels under 10 ng/mL was 8.1%. CONCLUSIONS: Our method to measure 25(OH)D3 and 25(OH)D2 levels by performing UPLC-MS/MS after PTAD derivatization showed good performance as a sensitive and reproducible method for routine analysis of vitamin D status.
25-Hydroxyvitamin D 2 ; Acetates ; Calcifediol ; Calibration ; Formates ; Humans ; Immunoassay ; Liquid-Liquid Extraction ; Mass Spectrometry ; Quaternary Ammonium Compounds ; Tandem Mass Spectrometry ; Triazoles ; Vitamin D

BACKGROUND: The hemoglobin A1c (HbA1c) level is widely used to diagnose and monitor glycaemic control in people with diabetes mellitus, and various methods are used for its determination. The D-100 hemoglobin testing system (Bio-Rad Laboratories, USA) is a fully automated, high-throughput glycohaemoglobin analyzer based on an ion-exchange high-performance liquid chromatographic method. Here, we evaluated the analytical performance of a newly developed HbA1c analyzer. METHODS: Precision, linearity, and comparison to the Variant II Turbo analyzer (Bio-Rad Laboratories, USA) were evaluated according to the Clinical Laboratory Standards Institute guidelines. Carryover, bias from the value assigned by the HbA1c Network Laboratory of Korea Centers for Disease Control and Prevention, and the vulnerability to interference by hemoglobin variants frequently found in Korea were also assessed. Statistical analyses were performed using Excel 2010 (Microsoft Co., USA) and MedCalc ver. 14.12.0 (MedCalc Software bvba, Belgium). RESULTS: The coefficients of variation for repeatability and within-device precision were less than 1.08% in National Glycohaemoglobin Standardization Program (NGSP) unit and less than 1.68% in international system of unit at all three levels. The calibration curve was linear, with R²=0.996 in the range of 4.6% to 15.4% in NGSP unit. The results highly correlated with those produced by Variant II Turbo (r=0.998). The 95% confidence interval for differences from the assigned values was -3.3% to 2.9%. No significant interferences of haemoglobin variants were observed except for Hemoglobin Yamagata. CONCLUSIONS: The D-100 hemoglobin testing system showed excellent precision, linearity, and good correlation with the Variant II Turbo analyzer and agreement with the assigned values. Therefore, its analytical performance is satisfactory for diabetes diagnosis and treatment monitoring.
Bias (Epidemiology) ; Calibration ; Centers for Disease Control and Prevention (U.S.) ; Diabetes Mellitus ; Diagnosis ; Hemoglobin A, Glycosylated ; Korea ; Methods

BACKGROUND: We evaluated the performance of multiplex tandem mass spectrometry (MS/MS) in newborn screening for detection of 6 lysosomal storage disorders (LSDs), namely, Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Pompe diseases and Hurler syndrome. METHODS: We revised the conditions and procedures of multiplex enzyme assay for the MS/MS analysis and determined the precision of our enzyme assay and the effects of sample amounts and incubation time on the results. We also measured the degree of correlation between the enzyme activities in the dried blood spots (DBSs) and those in the leukocytes. DBSs of 211 normal newborns and 13 newborns with various LSDs were analyzed using our revised methods. RESULTS: The intra- and inter-assay precisions were 2.9-18.7% and 8.1-18.1%, respectively. The amount of product obtained was proportional to the DBS eluate volume, but a slight flattening was observed in the product vs. sample volume curve at higher sample volumes. For each enzyme assay, the amount of product obtained increased linearly with the incubation period (range, 0-24 hr). Passing and Bablok regression analysis revealed that the enzyme activities in the DBSs and those in the leukocytes were favorably correlated. The enzyme activities measured in the DBSs were consistently lower in patients with LSDs than in normal newborns. CONCLUSIONS: The performance of our revised techniques for MS/MS detection and enzyme assays was of the generally acceptable standard. To our knowledge, this is the first report on the use of MS/MS for newborn screening of LSDs in an Asian population.
Dried Blood Spot Testing ; Enzyme Assays ; Enzymes/blood ; Humans ; Infant, Newborn ; Leukocytes/enzymology ; Lysosomal Storage Diseases/*diagnosis ; Republic of Korea ; Tandem Mass Spectrometry/*methods ; Time Factors