Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy and hypotonia. Seven-month old baby delivered by Caesarean section at gestational age 40 weeks was complaining of an inability to keep head up. In past history, he was treated for congenital nystagmus. Chromosomal study was normal. Brain MRI showed delay of myelination of 5 months old. During neurodevelopment treatment in our hospital about development delay, macrocephaly was observed with head circumference 46 cm (90~97 percentile). He couldn't control his head yet. Brain MRI was done when he was 12-month old. There was no myelination in whole brain compared with that of same age group. The peak elevation of N-acetylaspartic acid (NAA) was showed in magnetic resonance spectroscopy (MRS). NAA was detected as high as 29.7 mmol/molCr, we diagnosed him as Canavan's disease. So we reported this case with a brief review of related literatures.
Aspartic Acid ; Blindness ; Brain ; Cesarean Section ; Epilepsy ; Female ; Genetic Diseases, Inborn ; Gestational Age ; Head ; Humans ; Macrocephaly ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Myelin Sheath ; Nystagmus, Congenital ; Pregnancy

OBJECTIVES: To investigate if vitamin D receptor (VDR) gene polymorphisms and circulating vitamin D levels are associated with pelvic floor disorders (PFDs). METHODS: In this case-control study, 25-hydroxy-vitamin D (25[OH]D) serum levels were analyzed in 47 females with PFDs and 87 healthy females (controls), respectively. The VDR gene polymorphisms were determined by using polymerase chain reaction and performing digestions with 4 restriction enzymes i.e., ApaI, TaqI, FokI, and BsmI. Vitamin D levels of patients were divided into <20 ng/mL, 20 to 30 ng/mL, and ≥30 ng/mL categories. RESULTS: Our correlative analysis of VDR polymorphisms as a function of the presence of PFD showed that ApaI and BsmI polymorphisms were significantly associated with PFD in vitamin-D-deficiency and insufficiency groups (P < 0.05). Mean vitamin D levels did not differ between the PFD case (13.01 ± 0.84 ng/mL) and control (15.11 ± 1.04 ng/mL) groups (P > 0.05). However, there was a significant difference in the distribution of vitamin D levels between study group and controls using Pearson's χ2 test (<20 ng/mL, 20–30 ng/mL, and >30 ng/mL: 87.2%, 12.8%, and 0% in the study group and 75.9%, 16.1%, and 8.0% in controls, respectively, P < 0.05). Taken together, our observations suggest that vitamin D levels could be associated with PFDs and that 2 polymorphisms (i.e., ApaI and BsmI) in the VDR gene may contribute to an increased prevalence of PFDs in women with insufficient levels of vitamin D. CONCLUSIONS: Examining vitamin D levels and performing a VDR genotype analysis may be helpful for assessing PFD risk.
Case-Control Studies ; Female ; Genotype ; Humans ; Pelvic Floor Disorders ; Pelvic Floor ; Polymerase Chain Reaction ; Prevalence ; Receptors, Calcitriol ; Vitamin D Deficiency ; Vitamin D ; Vitamins

To determine the optimal administration route of calcitriol in CAPD patients with secondary hyperparathyroidism, we conducted a prospective study on 33 patients who performed CAPD for more than 6 months an d whose intact parathyroid hormone(iPTH) level was higher than 250pg/mL. The patients were randomized into 3 groups:IP(n=11); 1.0 microgram of calcitriol once daily via intraperitoneal route by overnight retention with dialysate, SC(n=11); 1.0 microgram of calcitriol three times a week via subcutaneous route, and PO (n=11); 1.0 microgram of calcitriol three times a week by ingestion. 11 out of 33 patients(6 in IP, 4 in SC, and 1 in PO) dropped out during the 6-months study period, and 5 among the 6 patients in IP were due to recurrent peritonitis. Biochemical data including calcium, phosphorus, iPTH, alkaline phosphatase, bone-specific alkaline phosphatase, osteocalcin and 1,25(OH)2D3 were measured regularly, and the data of 22 patients who had completed the 6-months study were analyzed. There was a statistically significant decrease in iPTH level(pg/mL) in the three groups after 6-months calcitriol therapy(IP; 812.0+/-276.7 vs. 354.7+/-129.4, PO; 571.8+/-330.7 vs. 159.6+/-192.3, SC; 786.1+/-535.0 vs. 551.8+/-729.9, respectively, P<0.05), but there were no differences in the percentage of decrease in iPTH from baseline values among the three groups. Alkaline phosphatase, bone- specific alkaline phosphatase and osteocalcin also decreased significantly in all three groups(IP; 50.1+/-14.6, 33.5+/-11.6, 52.3+/-10.9% of baseline value; SC; 80.9+/-14.8, 67.4+/-20.80, 54.4+/-11.1% of baseline value; PO; 48.8+/-24.4, 36.6+/-23.5, 54.2+/-11.6% of baseline value, respectively, P<0.05), but they were not different with each other. Among 22 patients who completed the 6-months study, hypercalcemia(Ca>=10.5 mg/dL) occurred in 7 patients(31.8%). IP(2/5, 40%) and SC groups(5/7, 71.4%) had significantly higher incidence of hypercalcemia than PO group(0/10, 0%) (P<0.05). IP group(2/5, 40%) also experienced significantly higher incidence of hyperphosphatemia than SC(1/7, 14.3%) and PO groups(1/10, 10%). Peritonitis occurred significantly more in IP than in SC and PO groups(P<0.05). In conclusion, calcitriol treatment resulted in a significant decrement in iPTH levels in CAPD patients and no significant differences were noted in the iPTH-suppressive effect of calcitriol according to the administration route. Because of higher incidence of peritonitis and hypercalcemia in IP and SQ groups, oral ingestion may be the most optimal route for calcitriol treatment in CAPD patients with secondary hyperparathyroidism.
Alkaline Phosphatase ; Calcitriol* ; Calcium ; Eating ; Humans ; Hypercalcemia ; Hyperparathyroidism, Secondary ; Hyperphosphatemia ; Incidence ; Osteocalcin ; Peritoneal Dialysis, Continuous Ambulatory* ; Peritonitis ; Phosphorus ; Prospective Studies*

Diabetic nephopathy is one of the leading causes of end-stage renal disease and characterized pathologically by the glomerular mesangial expansion and increased extracellular matrix(ECM) formation. Glomerular hyper-filtration and increased vascular permeability observed in the early stage of diabetic nephropathy have been proposed to play a significant pathophysiologic role in the eventual development of glomerulosclerosis of dia-betic nephropathy. Some studies have suggested that this glomerular hyperfiltration is mediated by increased nitric oxide(NO) production via the constitutive nitric oxide synthase(cNOS) pathway present in endothelial cells under the high glucose environment. However, the exact role of the inducible NOS(iNOS) pathway present in mesangial cells in the pathogenesis of diabetic neph-ropathy is not clearly established. The present study was carried out to examine whether NO production via the iNOS pathway is mo-dulated in cultured rat mesangial cells exposed to the high glucose environment and underlying mechanism of this modulation. For this purpose, the production of the stable metabolite of NO(nitrite), intracellular cyclic gu-anosine monophosphate(cGMP), iNOS mRNA expression and iNOS protein synthesis were examined under different glucose concentrations. Rat mesangial cells cultured in high glucose concen- tration(30mM D-glucose) increased significantly nitrit#e/ nitrate production and intracellular cGMP levels upon stimulation with lipopolysaccharide(LPS) plus interfer-on-r (IFN-r ) compared with control glucose concen- tration(5.6mM D-glucose). Mesangial iNOS mRNA expression and protein synthesis also increased signifi- cantly in response to high glucose. This enhanced iNOS mRNA expression induced by high glucose concentration was significantly suppressed by protein kinase C(PKC) inhibitor, calphostin C, and the aldose reductase inhibitor, 6-bromo-l, 3-dioxo-1H- benz[d, elisoquinoline-2(3H)-acetic acid. These results indicate that high glucose in combination with stimulation by LPS plus IFN- r enhances NO production from mesangial cells by the iNOS pathway, and that the activation of PKC and the polyol pathway may play a role in this enhancement.
Aldehyde Reductase ; Animals ; Capillary Permeability ; Diabetic Nephropathies ; Endothelial Cells ; Glucose* ; Kidney Failure, Chronic ; Mesangial Cells* ; Nitric Oxide* ; Protein Kinases ; Rats* ; RNA, Messenger

BACKGROUND/AIMS: It is unknown what effect inflammatory bowel disease (IBD) has on pregnancy in Korean patients. We aimed to determine the effect of IBD and its treatment on pregnancy outcomes using web-based survey. METHODS: A web-based survey was conducted in three Korean internet communities for IBD patients between May and September 2008. Pregnancy and birth outcomes were examined, and the influence of IBD activity and drug therapy were analyzed. RESULTS: Of 56 pregnancies in 36 female IBD patients, live births occurred in 60.7%, miscarriages in 10.7%, and artificial abortions in 17.8%. These results were similar to those expected for pregnant women in the general Korean population. All artificial abortions occurred in unplanned pregnancies, and 80% of those cases were due to a misunderstanding of IBD and medications. IBD was aggravated in 11.1% of the patients in remission or with mild activity and in 85.7% of patients with moderate or severe activity at the time of early pregnancy. Of 57 pregnancies in the spouses of 39 male patients, live births occurred in 78.9%, miscarriages in 8.8%, and artificial abortions in 3.5%. There was no significant influence of therapeutic medications on the natural course of pregnancies. CONCLUSIONS: Pregnancy outcomes in IBD patients appear to be similar to those of the general Korean population. A properly planned pregnancy and a comprehensive treatment course before and during pregnancy are important considerations for increasing the likelihood of a normal pregnancy in those with IBD.
Abortion, Spontaneous ; Family Planning Services ; Female ; Humans ; Inflammatory Bowel Diseases ; Internet ; Korea ; Live Birth ; Male ; Parturition ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Unplanned ; Pregnant Women ; Spouses

BACKGROUND/AIMS: It is unknown what effect inflammatory bowel disease (IBD) has on pregnancy in Korean patients. We aimed to determine the effect of IBD and its treatment on pregnancy outcomes using web-based survey. METHODS: A web-based survey was conducted in three Korean internet communities for IBD patients between May and September 2008. Pregnancy and birth outcomes were examined, and the influence of IBD activity and drug therapy were analyzed. RESULTS: Of 56 pregnancies in 36 female IBD patients, live births occurred in 60.7%, miscarriages in 10.7%, and artificial abortions in 17.8%. These results were similar to those expected for pregnant women in the general Korean population. All artificial abortions occurred in unplanned pregnancies, and 80% of those cases were due to a misunderstanding of IBD and medications. IBD was aggravated in 11.1% of the patients in remission or with mild activity and in 85.7% of patients with moderate or severe activity at the time of early pregnancy. Of 57 pregnancies in the spouses of 39 male patients, live births occurred in 78.9%, miscarriages in 8.8%, and artificial abortions in 3.5%. There was no significant influence of therapeutic medications on the natural course of pregnancies. CONCLUSIONS: Pregnancy outcomes in IBD patients appear to be similar to those of the general Korean population. A properly planned pregnancy and a comprehensive treatment course before and during pregnancy are important considerations for increasing the likelihood of a normal pregnancy in those with IBD.
Abortion, Spontaneous ; Family Planning Services ; Female ; Humans ; Inflammatory Bowel Diseases ; Internet ; Korea ; Live Birth ; Male ; Parturition ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Unplanned ; Pregnant Women ; Spouses

OBJECTIVE: To assess several variables that are known as the risk factor of preeclampsia. METHODS: We have studied with 279 pregnant women who were diagnosed with preeclampsia and went through delivery in Chungnam University from January, 1998 to December, 2002. For control group, we chose 364 non-hypertensive pregnant women who went through delivery from January, 2002 to December, 2002 through random process. Through reviewing each patient's chart, we collected data regarding age, parity, past medical history, past obstetric history, family history, presence of gestational diabetes, height, body weight, before and at the time of delivery, delivery mode and neonatal outcomes. Statistical analysis was performed using x2-test, Student t-test. A value of p below 0.05 was considered to show statistical significance. RESULTS: During the study period, 298 women had preeclampsia so that the incidence of preeclampsia was 6.0%. Age and past medical history were not related to preeclampsia. The primiparous women in this study are likely to show a higher incidence of preclampsia (OR 1.35, 95% CI 1.16-1.5, p=0.017). In addition, women whose BMI are ranged from 25.0 kg/m2 to 30.0 kg/m2 (p=0.027), and ranged from 30.0 kg/m2 to 40.0 kg/m2 (p=0.027) had a higher incidence of preeclampsia. By using a multiple logistic regression analysis about the BMI changes, we found out that there was a higher rate of preeclmapsia among pregnant women with over 7.11 kg/m2 BMI increasement compared with BMZ before pregnancy (OR=2.97, 95% CI 2.22-3.99, p<0.05). Finally, women who had previous preeclmapsia were in a higher reoccurrence. According to the study, those who have hypertensive family history and twin gestation showed significantly higher risk in the incidence of preeclampsia as 1.92 fold (95% CI 1.38-2.66 and 2.61 fold (95% CI 1.29-5.29) retrospectively. CONCLUSION: Women with primiparity, BMI>or=25.0 kg/m2, previous preeclampsia, family history of chronic hypertension, twin gestation showed an increased risk of preeclampsia.
Body Height ; Case-Control Studies* ; Chungcheongnam-do ; Diabetes, Gestational ; Female ; Humans ; Hypertension ; Incidence ; Logistic Models ; Parity ; Pre-Eclampsia* ; Pregnancy ; Pregnant Women ; Retrospective Studies ; Risk Factors*

OBJECTIVES: The purpose of this study was to examine the associations of childbirth, breastfeeding, and their interaction with breast cancer (BC) risk reduction, and to evaluate the heterogeneity in the BC risk reduction effects of these factors by menopause, hormone receptor (HR) status, and pathological subtype. METHODS: BC patients aged 40+ from the Korean Breast Cancer Registry in 2004-2012 and controls from the Health Examinee cohort participants were included in this study after 1:1 matching (12 889 pairs) by age and enrollment year. BC risk according to childbirth, breastfeeding, and their interaction was calculated in logistic regression models using odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: BC risk decreased with childbirth (3+ childbirths relative to 1 childbirth: OR, 0.66; 95% CI, 0.56 to 0.78 and OR, 0.80; 95% CI, 0.68 to 0.95 in postmenopausal and premenopausal women, respectively); and the degree of risk reduction by the number of children was heterogeneous according to menopausal status (p-heterogeneity=0.04), HR status (p-heterogeneity < 0.001), and pathological subtype (p-heterogeneity < 0.001); whereas breastfeeding for 1-12 months showed a heterogeneous association with BC risk according to menopausal status, with risk reduction only in premenopausal women (p-heterogeneity < 0.05). The combination of 2 more childbirths and breastfeeding for ≥13 months had a much stronger BC risk reduction of 49% (OR, 0.51; 95% CI, 0.45 to 0.58). CONCLUSIONS: This study suggests that the combination of longer breastfeeding and more childbirths reduces BC risk more strongly, and that women who experience both 2 or more childbirths and breastfeed for ≥13 months can reduce their BC risk by about 50%.
Breast Feeding* ; Breast Neoplasms* ; Breast* ; Child ; Cohort Studies ; Female ; Humans ; Logistic Models ; Menopause ; Odds Ratio ; Parturition* ; Population Characteristics ; Risk Reduction Behavior*

Ceramide induces cell death in a dose- and time-dependent manner in neuroblastoma SK-N-SH cells. To investigate the mechanism of SK-N-SH cell death by C2-ceramide, morphological features and Hoechst 33258 staining were analyzed. In these morphlogic study the cell death by ceramide showed typical apoptotic features, nuclear condensation, fragmentation, and membrane blebbing. Ceramide-induced apoptosis was accompanied by nuclear accumulation of p53. Inhibition of p53 expression with p53 antisense oligonucleotides inhibited apoptosis evoked by ceramide. Also, ceramide induced mitochondrial event, collapse of mitochondrial membrane potential (delta psi m) and interestingly, inhibition of p53 attenuated collapse of mitochondrial membrane potential, suggests that ceramide induces mitochondrial dysfunction through upregulation of p53 expression. These results suggest that ceramide-induced apoptosis is dependent upon increase in cellular p53 levels which play a critical role in the regulation of apoptotic cell death and p53 modulates mitochondrial function such as mitochondrial membrane potential level.
Apoptosis ; Bisbenzimidazole ; Blister ; Cell Death* ; Membrane Potential, Mitochondrial ; Membranes ; Neuroblastoma ; Neurons* ; Oligonucleotides, Antisense ; Up-Regulation

BACKGROUND: This study was performed to assess the effect of fentanyl and ketorolac in intravenous patient-controlled analgesia (IV-PCA) on postoperative nausea and vomiting and the antiemetic effect of prophylactic ondansetron after a total abdominal hysterectomy. METHODS: Of 115 women having general anesthesia for a total abdominal hysterectomy, a non-PCA group (n = 52) didn't receive IV-PCA and a PCA group (n = 39) and ondansetron group (n = 24) received IV fentanyl 1 - 1.5 microgram/kg and IM ketorolac 30 mg as a loading dose and IV-PCA with a mixture of 60 ml with fentanyl 25 - 30 microgram/kg and ketorolac 4 - 5 mg/kg. In addition, the ondansetron group received IV ondansetron 4 mg before an IV-PCA was started. We assessed nausea, vomiting and the need for rescue antiemetics during the first 24 hours postoperation. RESULTS: During the first 24 hours postoperation, there were no significant differences in the incidence of nausea, vomiting and the need for rescue antiemetics among the groups. CONCLUSIONS: Intravenous patient-controlled analgesia with fentanyl and ketorolac didn't increase postoperative nausea, vomiting and the need for rescue antiemetics during the first 24 hours postoperation. Also, prophylactic ondansetron didn't significantly reduce the chance of postoperative nausea, vomiting and rescue antiementics.
Analgesia, Patient-Controlled* ; Anesthesia, General ; Antiemetics ; Female ; Fentanyl* ; Humans ; Hysterectomy ; Incidence ; Ketorolac* ; Nausea ; Ondansetron* ; Passive Cutaneous Anaphylaxis ; Postoperative Nausea and Vomiting* ; Vomiting