Hypodipsic hypernatremia is characterized by chronic or recurrent episodes of severe hypernatermia associated with dehydration and a lack of thirst. This constellation of deficits suggests that the syndrome is due to hypodipsia of destruction of the hypothalamic osmoreceptors that regulate thirst and ADH secretion. We report a child with abnormalities of the central nervous system who had hypernatremia and a lack of thirst without detectable abnormalities in the osmoregulation of ADH secretion. The patient was a 11 month old female and her chief complaints were poor oral intake and weight gain. There were recurrent hypernatremia with hyperosmosis and normal level of plasma ADH. With intravenous rehydratin, oral intake was improved and plasma sodium level decreased.
Central Nervous System ; Child ; Dehydration ; Female ; Humans ; Hypernatremia* ; Infant ; Osmoregulation ; Plasma ; Sodium ; Thirst ; Weight Gain

PURPOSE: To compare the effect of breast milk containing fortifier with preterm formula on bone mineral metabolism in premature infants, we evaluated the state of bone mineralization, biochemical alteration and the frequency of rickets during the first five months of life. METHODS: Fourteen fortified breast milk-fed infants and eleven preterm formula-fed infants who were born at Il-Sin Christian Hospital from August, 1996 through July, 1997, were studied. The breast milk-fed group received human milk fortifier. The intake of Ca, P, Mg, protein, and fat was calculated at one month of age. Birth weight and weight at one, two and five months of age were measured. Serum Ca, P, alkaline phosphatase and 25-hydroxyvitamine D were measured at one month of age, and the wrist received X-ray examinations monthly. Total body bone mineral content was measured by Dual energy X-ray absorptiometry (Lunar WI) at two and five months of age. RESULTS: The two groups were similar in birth weight, gestational age, and weight at one, two and five months of age. Enteral Ca, P, protein, Mg, and fat intake, and urinary excretion of Ca, P were similar among the two groups. Serum Ca, P, ALP and 25-hydroxyvitamin D were not different. Occurrence of rickets and bone mineral content were similar among the two groups. CONCLUSION: Fortified breast milk-fed infants and preterm formula-fed infants showed no difference in total body bone mineral content and occurrence of rickets. Ultimately, we could enhance the advantage of breast milk fed to premature infants by adding fortifier.
Absorptiometry, Photon ; Alkaline Phosphatase ; Birth Weight ; Bone Density ; Breast ; Calcification, Physiologic ; Gestational Age ; Humans* ; Infant ; Infant, Newborn ; Infant, Premature ; Metabolism* ; Milk, Human* ; Rickets* ; Wrist

PURPOSE: To evaluate whether CT scanning is useful in differentiating the between endometriomas and other benign complex cystic adnexal masses, and in determining the method of treatment for each mass lesion. MATERIALS AND METHODS: In 54 cases (47 patients), we retrospectively analysed the CT findings of 20 pathologically-proven twenty endometriomas (bilateral in four cases), eight hemorrhagic functional cysts, two tubal ectopic pregnancies, eight tubo-ovarian abscesses (bilateral in two cases), ten serous cystadenomas (bilateral in one case), and six mucinous cystadenomas. Internal attenuation, the hyperdense portion, adhesion, and cul-de-sac obliteration were evaluated by CT scanning. RESULTS: Fourteen endometriomas (70%) showed a hyperdense portion, and in only two of these (10%), was a focal nodular hyperdense portion seen on pre-contrast CT scan (10% sensitivity, 100% specificity). Partial or complete cul-de-sac obliteration was identified in 11 patients (75%), while hemorrhagic functional cysts showed a hyperdense portion in four cases (50%) and were accompanied by partial cul-de-sac obliteration in two (25%). Two unruptured tubal ectopic pregnancies showed CT findings of unilateral hyperdense cystic masses of more than 60 HU. In all cases, tubo-ovarian abscesses were accompanied by thickening of the uterosacral ligament and deviation of thickened mesosalpinx (anterior deviation in 87.5% of patients). Serous and mucinous cystadenomas showed CT findings of hypodense masses (less than 20 HU) without adhesion or cul-de-sac obliteration, and this was helpful in differentiating cystadenomas from other benign cystic adnexal masses, including endometriomas. CONCLUSION: The evaluation by CT scanning of benign complex cystic adnexal masses with respect to the hyperdense portion and the presence or absence of cul-de-sac obliteration was usful in differentiating endometriomas from other lesions, and might be helpful in determining the method of treatment for each mass lesion.
Abscess ; Cystadenoma ; Cystadenoma, Mucinous ; Cystadenoma, Serous ; Endometriosis* ; Female ; Humans ; Ligaments ; Pregnancy ; Pregnancy, Ectopic ; Retrospective Studies ; Tomography, X-Ray Computed

BACKGROUND: Metabolic syndrome, a concurrence of disturbed glucose and insulin metabolism, over- weight and abdominal fat distribution, dyslipidemia and hypertension, is associated with subsequent de- velopment of type 2 diabetes mellitus and cardiovascular disease, especially coronary heart disease. The aim of the study is to assess the relationship between metabolic syndrome and coronary heart disease in elderly greater than 65 years old. METHODS: Eighty two elderly patients greater than 65 years old who underwent coronary angiography were divided into two groups with metabolic syndrome or without metabolic syndrome, and assessed the association with coronary angiographic finding. The metabolic syndrome factors and cardiovascular risk factors of JNC 7 were investigated to assess the relationship with coronary heart disease in elderly. Coronary heart disease was defined as 50% or greater diameter in stenosis of coronary artery in coronary angiography. RESULTS: In elderly patients with metabolic syndrome, coronary angiographically abnormal findings(p<0.05) and multi vessel disease findings(p<0.05) were presented significantly higher than non metabolic syndrome patients. In elderly patients with 3 and more cardiovascular risk factors of JNC 7, coronary angiographically abnormal findings(p<0.05) and multi vessel disease findings(p=0.059) were presented more than the other patients. Diabetes mellitus was related significantly with coronary heart disease(p value 0.044). CONCLUSION: In elderly patients, metabolic syndrome was significantly related with coronary heart disease and diabetes mellitus had strong relationship with coronary heart disease. Metabolic syndrome and cardiovascular risk factors of JNC 7 should be further evaluated to assess the relationship with coronary heart disease in the future.
Abdominal Fat ; Aged* ; Cardiovascular Diseases ; Constriction, Pathologic ; Coronary Angiography ; Coronary Disease* ; Coronary Vessels ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Dyslipidemias ; Glucose ; Heart ; Humans ; Hypertension ; Insulin ; Metabolism ; Risk Factors

In the present study, we examined the p53 mRNA expression in neuronal cell injury using a hypoxia and reoxygenation model of neuronal toxicity in hippocampal CA1 and CA3 regions. Reoxygenation for 6 hours to 3 days, after an exposure to hypoxic condition for 2 hours, produced a significant increase in p53 mRNA expression both in CA1 and CA3 regions compared to those in the control. In order to determine whether these changes in p53 mRNA expression in CA1 and CA3 have an effect on hypoxia-induced apoptotic or necrotic changes, TUNEL and H & E staining were applied to the hippocampal neurons. Interestingly, the CA1 region only showed most of strong TUNEL positive reaction whereas TUNEL positive reaction was weak in the CA3 region at reoxygenation time points. In addition, one of the particular morphological changes in CA1 neurons is the shrinkage of some neurons although most of neurons showed normal. However, the prominent neuronal changes in the CA3 region was that there were extensive red neurons containing eosinophilic cytoplasm and several dark neurons showing pyknotic nuclei, expanded perineuronal spaces, and cork-screw processes which are considered to typical necrotic degeneration. These results suggest that increased p53 expression might play important roles in hippocampal cell injury and their molecular mechanisms underlying cell injury may strongly depends upon the different properties of each hippocampal regions.
Anoxia* ; Apoptosis ; Cytoplasm ; Eosinophils ; In Situ Nick-End Labeling ; Necrosis ; Neurons ; RNA, Messenger*

BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysplasias. METHODS: In order to screen all possible genes associated with AO-like lethal skeletal dysplasias simultaneously, we performed whole-exome sequencing in a female newborn having clinical features of AO-I. RESULTS: Exome sequencing identified a novel missense variant (c.517G>A; p.Ala173Thr) in exon 2 of the FLNB gene in the patient. Sanger sequencing validated this variant, and genetic analysis of the patient's parents suggested a de novo occurrence of the variant. CONCLUSIONS: This study shows that exome sequencing can be a useful tool for the identification of causative mutations in lethal skeletal dysplasia patients.
Exome ; Female ; Filamins/chemistry/*genetics ; Gene Frequency ; Heterozygote ; Humans ; Infant, Newborn ; Mutation, Missense ; Osteochondrodysplasias/*genetics/pathology/radiography ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

We purified phytoestrogens from Pueraria root (Pueraria mirifica from Thailand and Pueraria lobata from Korea), which is used as a rejuvenating folk medicine in Thailand and China. Dried, powdered plant material was extracted with 100% ethanol and further separated by concentration, filtration, and thin layer silica gel chromatography. Using the fractions obtained during separation, we first investigated their cytotoxicity in several cancer cell lines from various tissues. The ethanol-extracted components (PE1, PE4) had significant antiproliferative effects on breast cancer cell lines, including MCF-7, ZR-75-1, MDA-MB-231, SK-BR-3, and Hs578T. Second, we compared these results with the cytotoxic effects of known flavonoids, sterols, and coumarins from Pueraria root. The known compounds were not as effective, and occurred in a different polarity region on HPLC. Third, further separation resulted in the isolation of eight different components (Sub PE-A to -H). One of these, PE-D, affected the growth of some breast cancer cell lines (MCF-7, MDA-MB-231) in a dose- and time-dependent manner, as well as the growth of ovarian (2774) and cervical cancer cells (HeLa). Finally, a transfection assay showed that this component had an estrogenic effect similar to 17beta-estradiol, which activates both estrogen receptor a (ER alpha) and ER beta. The NMR analysis determined that spinasterol (stigmasta-7, 22-dien-3beta-ol) is an active cytotoxic component of Pueraria root.
Antineoplastic Agents/isolation & purification/*pharmacology ; Chromatography, High Pressure Liquid ; Estrogen Receptor alpha/agonists ; Estrogen Receptor beta/agonists ; Female ; Humans ; Plant Preparations/therapeutic use ; Plant Roots/*chemistry ; Pueraria/*chemistry ; Research Support, Non-U.S. Gov't ; Stigmasterol/*analogs & derivatives/isolation & purification/pharmacology ; Transfection ; Tumor Cells, Cultured

BACKGROUND/AIMS: Experimental studies using porcine non- heart beating donors to ameliorate graft injuries in liver transplantation has been conducted. Recently, it has been reported that cellular calcium may have an important role in ischemic injury, which consists of damage during ischemia and impairment at the time of reperfusion. therefore, it is possible that calcium channel blocker might prevent warm ischemic injury of the graft in liver transplantation when administered to the donor before harvesting and to the recipient at reperfusion. the purpose of this study was to investigate the protective effect of a calcium channel blocker diltiazem (DTZ) on hepatic ischemic injury using a porcine model. METHODS: Twenty pigs weighing 20 to 30 kg were enrolled in this study. Cardiac death was induced by direct cardiac injection of potassium chloride. The perfusion of UW (University of Wisconsin) solution started after 30 min of cardiac arrest. Orthotopic liver transplantation was perforated. Group A (experimental group) was administrated of DTZ at a dose of 70microgram/kg bolus iv injection before hepatic ischemia, perfused of 70microgram/L in UW solution and thereafter infused continuously 70microgram/L in 5% dextrose solution. RESULTS: Two ones death occurred among the ten transplant pigs. 24 hour survival rates were 80%. DTZ administrated group showed the hepatic blood flow and arterial ketone body ratio better compared with untreated controls (p<0.05). In addition, the increase of plasma lactate level was suppressed after ischemia (p<0.05). CONCLUSION: Our results suggest that DTZ has a protective effect on ischemic induced hepatic damage and might be useful in the prevention of primary graft failure caused by warm ischemia in liver transplantation.
Calcium ; Calcium Channels ; Death ; Diltiazem ; Glucose ; Heart ; Heart Arrest ; Humans ; Ischemia ; Lactic Acid ; Liver Transplantation* ; Liver* ; Perfusion ; Plasma ; Potassium Chloride ; Reperfusion ; Survival Rate ; Swine ; Tissue Donors* ; Transplants ; Warm Ischemia

OBJECTIVE: The survival rate of very low birth weight infants (VLBWI) has increased markedly in Korea. The purpose of this study was to investigate the outcome of VLBWI in Busan area. METHODS: We retrospectively reviewed 273 VLBWI less than 1,500 g who were admitted to the neonatal intensive care units of three university hospitals in Busan between January, 2007, to December, 2008. The survival rate, distribution of infants by birth weight and gestational age, and complications were compared with previous reports in Busan. RESULTS: We enrolled 273 VLBWI, including 31.1% extremely low birth weight infants, and the overall survival rate of VLBWI was 77.3%. Mean gestational age was 29.2+/-2.9 weeks and birth weight was 1,115+/-249 g. Infants weighing <750 g, 750-999 g, 1,000-1,249 g and 1,250-1,499 g showed survival rates of 30.4%, 62.9%, 83.0%, and 92.0%, respectively. Infants at < or =24 weeks, 25-26 weeks, 27-28 weeks and > or =29 weeks had survival rates of 25.0%, 57.5%, 75.0%, and 91.0%, respectively. Survival rates by birth weight (<750 g, 750-999 g) and gestational age (< or =24 weeks, 25-26 weeks) had increased significantly compared to 2003-2005. Common morbidities of VLBWI included respiratory distress syndrome (54.9%), patent ductus arteriosus (33.3%), bronchopulmonary dysplasia (31.5%), sepsis (20.1%), necrotizing enterocolitis (7.3%), retinopathy of prematurity (> or =stage III) (6.2%) and intraventricular hemorrhage (> or =Gr III) (5.1%). CONCLUSIONS: The survival rate of VLBWI born in Busan was 77.3% over the past 2 years. Survival rates of extreme prematurity weighing less than 1,000g and gestational age of < or =26 weeks were significantly increased.
Birth Weight ; Bronchopulmonary Dysplasia ; Ductus Arteriosus, Patent ; Enterocolitis, Necrotizing ; Gestational Age ; Hemorrhage ; Hospitals, University ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intensive Care Units, Neonatal ; Korea ; Retinopathy of Prematurity ; Retrospective Studies ; Sepsis ; Survival Rate

Background/Aims: Belching disorder (BD) is clinically distinct from gastroesophageal reflux disease (GERD) with belching. Supragastric belching (SGB) is closely associated with reflux episodes. This study investigates belch characteristics in association with reflux, compared between patients with BD and those who had GERD with belching. Methods: Impedance pH monitoring data from 10 patients with BD and 10 patients with GERD who exhibited belching were retrospectively analyzed. Belches were considered “isolated“ or “reflux-related” and acidicon-acidic. Belch characteristics were compared between patients with BD and those with GERD. Results: Symptomatic belches were more frequent in patients with BD than in patients with GERD (median, 160.5 vs 56.0, P < 0.05). SGB was the most common type in both groups; common subtypes comprised “isolated“ in patients with BD and “isolated during the reflux period” in patients with GERD. Reflux-related SGB was more common in patients with GERD than in BD (78.3% vs 45.2%, P < 0.005).Both “preceding belching” including the reflux period and acidic SGB were more common in patients with GERD than in BD (31.8% vs 8.6% and 38.1% vs 8.9%, both P < 0.05). Supragastric belch number positively correlated with all reflux episodes in patients with GERD (adjusted R2 = 0.572, P = 0.007). Conclusions BD is characterized by more belching, compared to GERD. SGB is more frequently associated with reflux in GERD than in BD; acidity may be related to GERD. In BD, SGB is typically non-acidic and unrelated to reflux. Distinct SGB characteristics may reflect different pathogenic mechanisms of reflux and associated symptoms.