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

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*

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

PURPOSE: Eupatilin is an antioxidative flavone and a phytopharmaceutical derived from Artemisia asiatica. It has been reported to possess anti-tumor activity in some types of cancer including gastric cancer. Eupatilin may modulate the angiogenesis pathway which is part of anti-inflammatory effect demonstrated in gastric mucosal injury models. Here we investigated the anti-tumor effects of eupatilin on gastric cancer cells and elucidated the potential underlying mechanism whereby eupatilin suppresses angiogenesis and tumor growth. MATERIALS AND METHODS: The impact of eupatilin on the expression of angiogenesis pathway proteins was assessed using western blots in MKN45 cells. Using a chromatin immunoprecipitation assay, we tested whether eupatilin affects the recruitment of signal transducer and activator of transcription 3 (STAT3), aryl hydrocarbon receptor nuclear translocator (ARNT) and hypoxia-inducible factor-1alpha (HIF-1alpha) to the human VEGF promoter. To investigate the effect of eupatilin on vasculogenesis, tube formation assays were conducted using human umbilical vein endothelial cells (HUVECs). The effect of eupatilin on tumor suppression in mouse xenografts was assessed. RESULTS: Eupatilin significantly reduced VEGF, ARNT and STAT3 expression prominently under hypoxic conditions. The recruitment of STAT3, ARNT and HIF-1alpha to the VEGF promoter was inhibited by eupatilin treatment. HUVECs produced much foreshortened and severely broken tubes with eupatilin treatment. In addition, eupatilin effectively reduced tumor growth in a mouse xenograft model. CONCLUSIONS: Our results indicate that eupatilin inhibits angiogenesis in gastric cancer cells by blocking STAT3 and VEGF expression, suggesting its therapeutic potential in the treatment of gastric cancer.
Animals ; Artemisia ; Aryl Hydrocarbon Receptor Nuclear Translocator ; Blotting, Western ; Chromatin Immunoprecipitation ; Flavones ; Flavonoids ; Human Umbilical Vein Endothelial Cells ; Humans ; Mice ; Proteins ; STAT3 Transcription Factor ; Stomach Neoplasms ; Transplantation, Heterologous ; Vascular Endothelial Growth Factor A

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

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

BACKGROUND: Varenicline is now very useful medication for cessation; however, there is only little result of researches with varenicline for cessation of hospitalized patients. This research attempted to analyze the cessation effect of medication and compliance of hospitalized patients. METHODS: This research included data for 52 patients who were prescribed varenicline among 280 patients who were consulted for cessation during their admission period. This research checked whether smoking was stopped or not after six months and analyzed their compliance, the factors for succeeding in smoking cessation. RESULTS: One hundred and ninety hospitalized patients participated in smoking cessation counseling among 280 patients who included consultation from their admission departments. And varenicline was prescribed for only 80 patients after counseling. Nineteen smokers were successful in smoking cessation among 52 final participants representing the rating of success of 36.5%. The linkage between compliance of varenicline and rate of smoking successful has no statistical significance. The factors for succeeding in smoking of hospitalized patients are admission departments, diseases, and economic states. CONCLUSION: Smoking cessation program has low inpatient compliance. Cooperation of each departments is very important for better compliance. Success rate of cessation was relatively high (36.5%). Cessation attempt during hospitalization is very effective strategy.
Compliance* ; Counseling ; Hospitalization ; Humans ; Inpatients ; Smoke* ; Smoking Cessation* ; Smoking* ; Varenicline