ABSTRACT
Purpose@#Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital hypoparathyroidism and hypercalciuria and conducted a cell function study to determine whether the CASR-Y825F variant was pathogenic. @*Methods@#To perform a functional study on CaSR-Y825F, we constructed expression vectors expressing wild-type (WT) CASR and CASR-Y825F. After transfection of each expression vector into HEK293 cells, we examined alterations in intracellular signaling. Mitogen-activated protein kinase (MAPK) signaling activity of HEK293 cells expressing CASR-WT or CASR-Y825F was determined. Changes in intracellular calcium ions ([Ca2+]i) by extracellular calcium ion ([Ca2+]e) stimulation were quantitatively compared and analyzed. @*Results@#Cells expressing CASR-Y825F showed elevated of MAPK signaling (phospho-ERK [pERK], phospho-JNK [pJNK], phospho-p38 [pp38]) and increased [Ca2+]i levels at low [Ca2+]e stimulation compared with cells expressing CASR-WT. Additionally, [Ca2+]i levels in HEK293 cells expression CASR-WT and CASR-Y825F were determined at 340 nm/380 nm wavelength ratios using Fura-2 AM. At [Ca2+]e concentrations of 2.5 mM and 3 mM, the ratios of CASR-Y825F cells were higher (2.6 and 3.5, respectively) than those of CASR-WT cells (1.04 and 1.40, respectively). @*Conclusion@#This cell function study proved that the CASR-Y825F expressed in HEK293 cells elevated MAPK signaling (pERK, pJNK, pp38) and increased [Ca2+]i to induce hypocalcemia.
ABSTRACT
Purpose@#Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital hypoparathyroidism and hypercalciuria and conducted a cell function study to determine whether the CASR-Y825F variant was pathogenic. @*Methods@#To perform a functional study on CaSR-Y825F, we constructed expression vectors expressing wild-type (WT) CASR and CASR-Y825F. After transfection of each expression vector into HEK293 cells, we examined alterations in intracellular signaling. Mitogen-activated protein kinase (MAPK) signaling activity of HEK293 cells expressing CASR-WT or CASR-Y825F was determined. Changes in intracellular calcium ions ([Ca2+]i) by extracellular calcium ion ([Ca2+]e) stimulation were quantitatively compared and analyzed. @*Results@#Cells expressing CASR-Y825F showed elevated of MAPK signaling (phospho-ERK [pERK], phospho-JNK [pJNK], phospho-p38 [pp38]) and increased [Ca2+]i levels at low [Ca2+]e stimulation compared with cells expressing CASR-WT. Additionally, [Ca2+]i levels in HEK293 cells expression CASR-WT and CASR-Y825F were determined at 340 nm/380 nm wavelength ratios using Fura-2 AM. At [Ca2+]e concentrations of 2.5 mM and 3 mM, the ratios of CASR-Y825F cells were higher (2.6 and 3.5, respectively) than those of CASR-WT cells (1.04 and 1.40, respectively). @*Conclusion@#This cell function study proved that the CASR-Y825F expressed in HEK293 cells elevated MAPK signaling (pERK, pJNK, pp38) and increased [Ca2+]i to induce hypocalcemia.
ABSTRACT
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.
Subject(s)
Humans , Infant, Newborn , Calcium , Follow-Up Studies , Hypercalciuria , Hypocalcemia , Hypoparathyroidism , Mutation, Missense , Receptors, Calcium-SensingABSTRACT
Eosinophilic gastroenteritis (EGE) is a disorder characterized by eosinophilic infiltration of the bowel wall and various gastrointestinal (GI) manifestations. This study aimed to evaluate the characteristics of EGE in infants and children. A total of 22 patients were diagnosed with histologic EGE (hEGE) or possible EGE (pEGE). Serum specific IgE levels, peripheral eosinophil counts, and endoscopic biopsies were carried out. In the hEGE group (n = 13), initial symptoms included hematemesis, abdominal pain, and vomiting. Three of the subjects had normal endoscopic findings. Eight patients were categorized into the infant group and 5 into the child group. All patients in the infant group showed clinical improvement after switching from cow's milk feeding to special formula or breast feeding. The infant group showed a higher eosinophil count in the gastric mucosal biopsy than the child group. In the pEGE group (n = 9) initial symptoms included hematemesis, abdominal pain, and vomiting. Seven patients in this group showed a good response to treatment with restriction of the suspected foods and/or the administration of ketotifen. Both hEGE and pEGE groups showed clinical improvement after restriction of suspected foods in the majority of cases and also showed a similar clinical course. EGE should be considered in the differential diagnosis of patients with chronic abdominal pain, vomiting, and hematemesis of unknown cause. The infant group may have a better prognosis than the child group if treated properly.
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Diagnosis, Differential , Disease Progression , Endoscopy, Gastrointestinal/methods , Enteritis/pathology , Eosinophilia/pathology , Gastritis/pathology , Intestinal Mucosa/pathology , Republic of Korea , Treatment OutcomeABSTRACT
PURPOSE: We analysed the prehospital care and property of field triage for quality improvement. METHODS: A retrospective study of 623 case who were selected every five other day(1, 6, 11, 16, 21, 26) and visited emergency center of Hangang Sacred Heart hospital by 119 rescuer from January 2002 to December 2003 was made using triage and management at field and during transport. The research compared 119 transport chart with emergency medical recording. RESULTS: There were 350 male(56.2%) and 273 female(43.8%). Non-triage patient were 432 cases(69.3%). Finding from the crosstabulation analysis between 119 transport chart and emergency medical record reveal that 93 cases were overstimated, and 23 cases were understimated in mental status evaluation by 119 rescuer. Adequate prehospital treatment were 151 cases. CONCLUSION: The property of mental status evaluation by 119 rescuer was nearly correct, but the triage and management were not.
Subject(s)
Humans , Emergencies , Heart , Medical Records , Quality Improvement , Retrospective Studies , TriageABSTRACT
PURPOSE: It is recommended that the cuff is inflated with about 10 ml air because cuff pressure is maintained from 25 cmH2O(=18.39 mmHg) to 40 cmH2O(=29.424 mmHg). This study is performed to evaluate the air volume of highvolume and low-pressure cuff during maintaining appropriate pressure. METHODS: The tracheal models are hexahedral structures were made of monomer Cast Polyamide with a whole diameter from 10 mm to 30 mm at 1mm interval each. They were 1/100 with accuracy. Intubation tube were Hi-LoT M (Mallinckrodt, Athlone, Ireland), high-volume low-pressure cuff tube. The diameter of tubes was from 5.0 mm to 8.0 mm at 0.5 mm interval each. Cuff pressure was measured with cuff pressure control (Tracoe(R), Mains, Germany). Inflated cuff volume is measured by plastic syringe (Becton-Dickson Korea, Seoul, Korea) in maintaining recommended cuff pressure. Volume measurements were twice by each different tester. RESULTS: There were considerable volume differences between each tube size and each model. The bigger trachea model diameter was, the more intracuff air volume was. There was the least volume difference in 5.5 mm intubation tube size (3.5~11.5 ml). There was the most difference in 7.5 mm intubation tube size (3.5~19.5 ml). Totally, the maximum air volume was 22.3 ml, the mininum air volume was 1.5 ml. The difference was 20.8 ml. CONCLUSION: The inflated volumes of cuff in proper cuff pressure were considerably different by the diameter sizes of tracheal models and tube sizes. Therefore, it will be more convenient and safe to use device for maintaining cuff pressure properly.
Subject(s)
Data Collection , Intubation , Korea , Nylons , Plastics , Seoul , Syringes , TracheaABSTRACT
PURPOSE: After intubation, it is recommended that, to sustain airway patency, about 10ml of air be infused to seal the airway and to prevent complications. At this step, sustaining a proper pressure level (18~24 mmHg) is most important because excessive pressure can cause diverse complications. We carried out a series of investigations to find a way to sustain a constant pressure level. METHODS: We gathered the cases of intubated patients for 6 randomly selected days during 2003 at HanGang Sacred Heart Hospital. Included were cases from emergency room, the intensive care unit, and the operating rooms; 30 cases were enrolled for this investigation. We used a cuff pressure control REF 701 (Tracoe(r), Mainz, Germany) to trace the cuff pressure. First, we measured the amount of air that was infused into the cuff and the cuff pressure. Then, we measured the amount of air after a proper level of cuff pressure had been achieved. RESULTS: We have found that out of the 30 cases investigated the recommended pressure level was maintained in 4 cases. The average cuff pressure was 40.9 mmHg with 10.2 cc of air and 69.0 mmHg, the largest value, was reported in one case. However, when recommended pressure level was maintained (18 mmHg), the average amount of air was reduced to 7.9 cc. CONCLUSION: The results reveal that it may not be possible to sustain the recommended pressure level by "infusing about 10 ml of air,"and that may cause complications.
Subject(s)
Humans , Emergency Service, Hospital , Heart , Intensive Care Units , Intubation , Operating RoomsABSTRACT
PURPOSE: It is important that the internal pressure of a cuff be sustained at a constant level (18~25 mmHg). If not, complications may result. Because the space for the intrusion of the cuff is limited, the pressure should be determined by the amount of air in the cuff and the tracheal luminal diameter. Since very limited studies of the tracheal luminal diameter in Korea exist, in this study, we report the relationships between the tracheal luminal diameter and other variables such as age, gender, pulmonary disease, and chronic obstructive pulmonary disease. METHODS: This study was based on chest CT cases at HanGang Sacred Heart Hospital in 2002. We retrospectively reviewed the charts of the 102 patients included in this study. The mean luminal diameter of the anterior-posterior(AP) and the transverse diameters were our dependent variables, and those diameters were checked by two investigators in each case. RESULTS: The average mean luminal diameter was 17.0mm, and the range of the mean luminal diameter was from 9.0 mm to 27.5 mm. The mean value for men was 18.3mm, and that for women was 15.1 mm, and the difference proved to be statistically different from zero (p<0.01). The luminal diameter is significantly different between COPD (m=19.0 mm) and non-COPD (m=17.0 mm) cases and the difference was statistically different from zero for all the statistics adopted in this study. CONCLUSION: This study found that the size of the luminal diameter was significantly different between two groups: men and women, and COPD and non-COPD cases. Despite the seminal findings of the present study, this study has several limitations.
Subject(s)
Female , Humans , Male , Heart , Intubation , Korea , Lung Diseases , Phenobarbital , Pulmonary Disease, Chronic Obstructive , Research Personnel , Retrospective Studies , Thorax , Tomography, X-Ray Computed , TracheaABSTRACT
Neck trauma can result in a spectrum of injuries and complications ranging from incidental to life threatening, including hemorrhagic shock, acute neurologic injury, and airway obstruction. A prevertebral hematoma associated with a cervical vertebra fracture is not a common condition, moreover, in such cases, airway obstruction is rare. If this condition occur, it may very fatal that can producing hypoxia, cyanosis, acidemia, hypoxic brain damage, and then death. For this reason, the attending physitian must careful observation and protect the airway until the hematoma is reduced and other complications relieved. Recently, we experienced a case of airway obstruction induced by cervical vertebra teardrop fracture (C5). The hematoma progressed slowly and then progressively; Finally it compressed the airway. So we present this case with a reviews of the literature.
Subject(s)
Airway Obstruction , Hypoxia , Cyanosis , Hematoma , Hypoxia, Brain , Neck , Shock, Hemorrhagic , SpineABSTRACT
PURPOSE: This study was conducted to develop field triage, transportation, distribution, and prehospital care at a fire disaster by analyzing the victims of the fire that broke out at a bar in Incheon. METHOD: We analyzed the cases of the victims of a fire in Incheon in Oct. 1999. We determined the primary care hospital, the arrival time, the burn size, the outcome, and the injury type from the medical records, the concerned organ records, and interviews with concerned persons. RESULT: The total number of victims was 137: 56 prehospital deaths, 1 hospital death, and 80 survivals. The Pearson correlation coefficient between the burn size and the severity was -0.175. There were 121 (89.6%) cases of inhalation injury, 59 (43.7%) cases of flame burns, 66 (48.9%) cases of hypoxic brain damage, and 16 (11.9%) cases involving other types of injury. CONCLUSION: The causes of death of the fire victims were inhalation injury and hypoxic brain damage due to CO poisoning and other toxic inhalants. We propose the use of a simple triage and rapid treatment (START) system and a reassessment the delayed category in fire disasters.
Subject(s)
Humans , Beer , Burns , Cause of Death , Disasters , Fires , Hypoxia, Brain , Inhalation , Medical Records , Poisoning , Primary Health Care , Transportation , TriageABSTRACT
No abstract available.
Subject(s)
Breast Neoplasms , Breast , Cyclin D1 , Cyclins , Survival RateABSTRACT
This study was performed to determine the action mode of oxytocin antagonist. In Study 1, the duration of in vivo action of oxytocin antagonist I (AI) was examined. After infusing AI, oxytocin was given and repeated every hour for 5 hr. Uterine activities were monitored with a polygraph. Study 2 determined the effect of AI on uterine oxytocin receptor number (Rn) and binding affinity (Kd). AI treated rats were sacrificed at 0.5 and 4 hr later for receptor assay. In Study 1, the uterine contractile response to oxytocin was significantly inhibited (p>0.05) compared to controls at five min, 1 and 2 hr after injection of AI. No differences in response were detected compared to controls (p>0.05) at later hours. In Study 2, no differences (p>0.05) between the AI and control animals in either oxytocin receptor number or binding affinity was found. These data suggest that the major mode of AI action is via competitive inhibition at the uterine oxytocin receptor and not by altering receptor number or binding affinity. AI is suggested to have the potential of being a potent and specific tocolytic agent for prevention of preterm labor in human.
Subject(s)
Female , Rats , Animals , Oxytocin/pharmacology , Oxytocin/metabolism , Oxytocin/antagonists & inhibitors , Receptors, Oxytocin/metabolism , Uterus/physiology , Uterus/drug effectsABSTRACT
This study was performed to determine the action mode of oxytocin antagonist. In Study 1, the duration of in vivo action of oxytocin antagonist I (AI) was examined. After infusing AI, oxytocin was given and repeated every hour for 5 hr. Uterine activities were monitored with a polygraph. Study 2 determined the effect of AI on uterine oxytocin receptor number (Rn) and binding affinity (Kd). AI treated rats were sacrificed at 0.5 and 4 hr later for receptor assay. In Study 1, the uterine contractile response to oxytocin was significantly inhibited (p>0.05) compared to controls at five min, 1 and 2 hr after injection of AI. No differences in response were detected compared to controls (p>0.05) at later hours. In Study 2, no differences (p>0.05) between the AI and control animals in either oxytocin receptor number or binding affinity was found. These data suggest that the major mode of AI action is via competitive inhibition at the uterine oxytocin receptor and not by altering receptor number or binding affinity. AI is suggested to have the potential of being a potent and specific tocolytic agent for prevention of preterm labor in human.
Subject(s)
Female , Rats , Animals , Oxytocin/pharmacology , Oxytocin/metabolism , Oxytocin/antagonists & inhibitors , Receptors, Oxytocin/metabolism , Uterus/physiology , Uterus/drug effectsABSTRACT
This study was taken to investigate the association between the risk factors and the incidence of the intrauterine growth retardation(IUGR) at the Department of Obstetrics and Gynecology, Chosun University Kwangyang Hospital. The retrospective survey of obstetric records of 1339 delivery during period of 1992 through 1995, with the following criteria: Korean, singletone pregnancy with live birth and gestational age more than 32 weeks. The results were as follows. 1. The incidence rate for IUGR during period 1992 through 1995 was 8.44%. 2. The most common cause of IUGR was unknown(74.3%). Remaining 25.7% of IUGR had confirmed causes. Among known causes, the commonest cause was maternal factor (21.2%), placental(2.65%) and fetal anomaly(1.77%) in orders. 3. Among maternal factor, pregnancy induced hypertension was the most common cause. 4. In IUGR group, the mean maternal height was 158cm, the mean maternal weight was 58kg, the mean placental weight was 636gm and the ratio or mean fetal weight/placental weight was 4.07. 5. The incidence of IUGR was higher in the multiparity and in the female. 6. Most of IUGR was developed after 38 weeks of gestational age. 7. IUGR group shows lower Apgar score than control group at 1 and 5 minute.