No abstract available.
Adrenogenital Syndrome* ; Congenital Hypothyroidism*

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

Choroid plexus carcinomas(CPCs) are rare neuroectodermal malginancies occuring mostly in young children of less than two years old, of which prognosis have been reported extremely grave. Generally, the extent of surgical resection has been regarded the most significant prognostic factor. However, the inherent hypervascularity and softness of these tumors make the total removal very difficult. We present our experience in a 18-months-old child with a large intraventricular CPC, of which total resection was achieved by the use of preoperative neoadjuvant chemotherapy with ICE regimen(Ifosfamide, Cisplatinum, Etoposide).
Child ; Choroid Plexus* ; Choroid* ; Drug Therapy* ; Humans ; Ice ; Neural Plate ; Prognosis

There is no information on the effects of variable amounts of water given less than 2 hour before induction of general anesthesia, although most patients receive oral premedication at that time. We have studied the effect of the volume of water which should accompany diazepam 0.2 mg/kg oral premedication given 90 minutes before induction of anesthesia in 75 patients undergoing elective laparoscopic cholecystectomy. The patients, ASA physical status I, randomly assigned to one of five groups. Fifteen patients were received no premedication (group A), 15 patients 50 ml (group B), 15 patients 100 ml (group C), 15 patients 150 ml (group D), and 15 patients 200 ml of water (group E). Immediately following induction of anesthesia the gastric fluid was obtained by suction on a nasogastric tube and its volume and pH were measured. Gastric fluid volume showed no statistically significant differences among the groups. Values for pH among the groups were also similar. All premedication groups reported a reduction in thirst after water intake, while only group D reported significant anxiolysis. We conclude that 150 ml is the ideal amount of water given with oral prnedication 90 minutes before general anesthesia.
Anesthesia ; Anesthesia, General ; Anxiety* ; Cholecystectomy, Laparoscopic ; Diazepam* ; Drinking ; Humans ; Hydrogen-Ion Concentration* ; Premedication* ; Suction ; Thirst ; Water*

OBJECTIVES: The goal was to model and quantify the atmospheric concentrations of volatile organic compounds (VOCs) as the result of the Hebei Spirit oil spill, and to predict whether the exposure levels were abnormally high or not. METHODS: We developed a model for calculating the airborne concentration of VOCs that are produced in an oil spill accident. The model was applied to a practical situation, namely the Hebei Spirit oil spill. The accuracy of the model was verified by comparing the results with previous observation data. The concentrations were compared with the currently used air quality standards. RESULTS: Evaporation was found to be 10- to 1,000-fold higher than the emissions produced from a surrounding industrial complex. The modeled concentrations for benzene failed to meet current labor environmental standards, and the concentration of benzene, toluene, ortho- meta- para-xylene were higher than the values specified by air quality standards and guideline values on the ocean. The concentrations of total VOCs were much higher than indoor environmental criteria for the entire Taean area for a few days. CONCLUSIONS: The extent of airborne exposure was clearly not the same as that for normal conditions.
Benzene ; Humans ; Petroleum Pollution ; Toluene ; Volatile Organic Compounds ; Volatilization ; Xylenes

Traumatic aniridia is usually accompanied by severe anterior segment disruption including corneal laceration, cataract, and vitreous prolapse into the anterior chamber. We experienced a case of complete traumatic aniridia following corneal laceration without capsular rupture of lens, which has not been reported in Korea. A 28-year-old man had a corneal laceration of his right eye from a screw driver at work, which resulted in complete aniridia with only a remnant of ciliary process and UCVA was 0.08. Primary closure of corneal laceration was performed. During surgery, lens capsule was intact. Visual acuity was reduced 10 days after surgery as cataract developed. Although UCVA was 0.3 at 1 month postoperatively, he was symtomatic with glare due to aniridia.
Adult ; Aniridia* ; Anterior Chamber ; Cataract ; Glare ; Humans ; Korea ; Lacerations* ; Prolapse ; Rupture ; Visual Acuity

OBJECTIVES: Recently, it was reported that microsurgical fenestration of the lamina terminalis (LT) may reduce the incidence of shunt-dependent hydrocephalus in aneurysmal SAH. The authors investigated the efficacy of the LT opening on the incidence of shunt-dependent hydrocephalus especially in the ruptured anterior communicating artery (ACoA) aneurysms. METHODS: The data of 71 ruptured ACoA aneurysm patients who underwent aneurysmal clipping in acute stage were reviewed retrospectively. The patients were divided into two groups according to the use of intraoperative microsurgical opening of the LT. Group I (n=36) included the patients with microsurgical fenestration of LT during routine pterional approach, Group II (n=35) consisted of patients in whom microsurgical fenestration of LT was not feasible. The rate of shunt-dependent hydrocephalus was compared between two groups by logistic regression to control for confounding factor. RESULTS: Ventriculo-peritoneal shunts were performed after aneurysmal obliteration in 18 (25.4%) patients. Overall conversion rates from acute hydrocephalus on admission to chronic hydrocephalus in each group were 29.6% (Group I) and 58.8% (Group II), respectively. There was no significant correlation between the microsurgical fenestration and the rate of occurrence of shunt-dependent hydrocephalus (p>0.05). CONCLUSION: Although this study cannot provide a definitive answer, the microsurgical fenestration of LT can play a negative role for reducing the incidence of chronic hydrocephalus. Surgeons should carefully decide the concomitant use of LT fenestration during surgery for the ruptured ACoA aneurysms.
Aneurysm ; Arteries ; Humans ; Hydrocephalus* ; Hypothalamus* ; Incidence ; Intracranial Aneurysm* ; Logistic Models ; Retrospective Studies ; Subarachnoid Hemorrhage* ; Ventriculoperitoneal Shunt

OBJECTIVE: The authors report a retrospective analysis of the clinical effect of dorsal root entry zone (DREZ) lesioning for neuropathic intractable pain. METHODS: Fourteen patients who underwent dorsal root entry zone lesioning for various types of pain between September 1995 and August 2001 were evaluated retrospectively. Eleven male and three female patients whose ages ranging from 35 to 70 were studied. According to causes of intractable pain, patients were divided into paraplegic pain(7 patients), peripheral nerve injury pain(3), cancer pain(3), phantom limb pain(1) and root avulsion pain(1). Other preoperative pain managements showed no benificial effects. The changes in painful symtoms were closely observed during follow up period. The mean follow period after operation was 32.4 months. RESULTS: Postoperatively, the decrease in level of pain was classified into four groups : excellent, good, fair, poor. Excellent represented no pain without medication : Good, pain tolerable with non-opiate medicine ; Fair, pain tolerable with opiate medicine ; Poor, pain sustained. After operation, three patients were in excellent group, eight in good, one in fair, and two in poor. Twelve patients were in medically tolerable pain group accounting for 85.7%. There were no serious operation releated side effects. CONCLUSION: DREZ lesioning, in our series, provided substantial pain relief and this may be considered an option in management of these types of intractable neuropathic pain.
Female ; Follow-Up Studies ; Humans ; Male ; Neuralgia ; Pain Management ; Pain, Intractable* ; Peripheral Nerve Injuries ; Phantom Limb ; Retrospective Studies ; Spinal Nerve Roots*

Esmolol is a cardioselective beta-blocker with a very rapid onset of action and a short half-life. Labetalol is a combined alpha- and beta-adrenoceptor blocking agent. It is a nonselective antagonist at beta-adrenoceptors and a competitive antagonist of postsynaptic alpha 1-adrenoceptors. A 51 year old female patient was transferred to the operating room for performing spinal fusion under general anesthesia. She had no operation and medication history. The initial heart rate was 150 beats/min. Despite administering several bolus injections of esmolol, the heart rate was not decreased to under 130 beats/min. But the heart rate was decreased to 100 beats/min after the administration of labetalol 5 mg and this rate was maintained without an additional injection. The vital signs were stable until the operation was finished and the patient recovered uneventfully in the recovery room. The postoperative laboratory findings revealed that she had hyperthyroidism. We report here on an anesthetic experience of effective labetalol treatment for esmolol-resistant tachycardia in a patient who was under general anesthesia.
Anesthesia, General ; Female ; Half-Life ; Heart Rate ; Humans ; Hyperthyroidism ; Labetalol ; Operating Rooms ; Propanolamines ; Recovery Room ; Spinal Fusion ; Tachycardia ; Vital Signs