OBJECTIVE: To investigate the association between endometriosis and polymorphisms of N-acetyl transferase 2 (NAT2), glutathione S-transferase M1 (GSTM1), and cytochrome P450 (CYP) 1A1 genes in Korean infertile patients. MATERIALS AND METHODS: A total of 303 infertile patients who had undertaken diagnostic laparoscopy during January, 2001 through December, 2003 at Samsung Cheil Hospital enrolled in this study. The patients were grouped according to laparoscopic findings: minimal to mild endometriosis (group I: n=147), moderate to severe endometriosis (group II: n=57), normal pelvic cavity (n=99). Peripheral blood was obtained and genomic DNA was extracted. The genotypes of each genes were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). For NAT2, RFLP was used to detect the wild type (wt) and mutant (mt) alleles, enabling classification into slow (mt/mt) or fast (wt/wt or wt/mt) acetylation genotypes. For GSTM1, PCR was used to distinguish active (+/- or +/+) from null (-/-) genotypes. For CYP1A1, MspI digestion was used to detect the wild type (A1A1), heterozygote (A1A2) or mutant (A2A2) genotypes. RESULTS: The genotype frequencies of NAT2 slow acetylator was 12.8%, 10.9%, 12.8% in group I, group II and control, respectively. The genotype frequencies of GSTM1 null mutation was 55.3%, 41.8%, 53.2% in group I, group II and control, respectively. The genotype frequencies of CYP1A1 MspI polymorphism was 16.3%, 9.1%, 18.1% in group I, group II and control, respectively. No significant difference was observed between endometriosis and normal controls in the genotype frequencies of the NAT2, GSTM1, CYP1A1 MspI polymorphism. CONCLUSION: The NAT2, GSTM1, CYP1A1 gene polymorphism may not be associated with the susceptibility of endometriosis in Korean women.
Acetylation ; Alleles ; Classification ; Cytochrome P-450 CYP1A1 ; Cytochrome P-450 Enzyme System* ; Cytochromes* ; Digestion ; DNA ; Endometriosis* ; Female ; Genotype ; Glutathione Transferase* ; Glutathione* ; Heterozygote ; Humans ; Laparoscopy ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Transferases*

Dual-specificity tyrosine (Y)-phosphorylation-regulated protein kinase 1A (Dyrk1A) is the mammalian homologue of Drosophila melanogaster minibrain and its human gene is mapped to the Down syndrome critical region of chromosome 21. Dyrk1A phosphorylates several transcription factors, including NFAT and CREB and a number of cytosolic proteins such as APP, tau, and alpha-synuclein. Although Dyrk1A is involved in the control of cell growth and postembryonic neurogenesis, its potential role during cell death and signaling pathway is not clearly understood. In the present study, we show that Dyrk1A is activated under the condition of apoptotic cell death. In addition, Dyrk1A is coupled to JNK1 activation, and directly interacts with apoptosis signal-regulating kinase 1 (ASK1). Moreover, Dyrk1A positively regulates ASK1-mediated JNK1-signaling, and appears to directly phosphorylate ASK1. These data indicate that Dyrk1A regulates cell death through facilitating ASK1-mediated signaling events.
alpha-Synuclein ; Cell Death ; Chromosomes, Human, Pair 21 ; Cytosol ; Down Syndrome ; Drosophila melanogaster ; Humans ; MAP Kinase Kinase Kinase 5 ; Neurogenesis ; Protein Kinases ; Proteins ; Signal Transduction ; Transcription Factors ; Tyrosine

No abstract available.
Epidermolysis Bullosa ; Muscular Dystrophy, Duchenne ; Ornithine Carbamoyltransferase ; Polymerase Chain Reaction* ; Preimplantation Diagnosis*

OBJECTIVE: To evaluate the effects of recombinant FSH (rFSH) and urinary FSH (uFSH) on the gene expressions of human endometrial stromal cells in vitro. METHODS: Endometrial tissue was obtained from a pre-menopausal women undergoing hysterectomy. Primary endometrial stromal cells were isolated and in vitro cultured with FBS-free DMEM/F-12 containing 0, 10, 100, and 1,000 mIU/ml of rFSH and uFSH for 48 hours, respectively. Total RNA was extracted from the cultured cells and subjected to real time RT-PCR for the quantitative analysis of progesterone receptor (PR), estrogen receptor alpha/beta (ER-alpha/beta), cyclooxygenase 2 (Cox-2), leukemia inhibitory factor (LIF), homeobox A10-1 and -2 (HoxA10-1/-2). RESULTS: Both hormone treatments slightly increased (< 3 folds) the expressions of PR, ER-beta and HoxA10-1/-2 gene. However, ER-alpha expression was increased up to five folds by treatments of both FSH for 48 hours. The LIF expression by the 10 mIU/ml of uFSH for 12 hours was significantly higher than that of rFSH (p<0.01). After 24 hours treatment of two kinds of hormones, the expression patterns of LIF were similar. The 100 and 1,000 mIU/ml of rFSH induced significantly higher amount of Cox-2 expression than those of uFSH, respectively (p<0.05). CONCLUSION: This study represents no adversely effect of exogeneous gonadotropins, rFSH and uFSH, on the expression of implantation related genes. We suggest that rFSH is applicable for the assisted reproductive technology without any concern on the endometrial receptivity.
Cells, Cultured ; Cyclooxygenase 2 ; Estrogens ; Female ; Gene Expression* ; Genes, Homeobox ; Gonadotropins ; Humans* ; Hysterectomy ; Leukemia Inhibitory Factor ; Receptors, Progesterone ; Reproductive Techniques, Assisted ; RNA ; Stromal Cells*

Kimura's disease is an uncommon, chronic inflammatory disease of unknown etiology. It is an important category of reactive lymphadenopathy in the oriental population. The most common sites are the subcutis of the head and neck, and parotid gland. It's clinical course is benign nature. The treatment modalities for this disease are steroid therapy, radiation therapy and surgical excision. We experienced a case of soft tissue mass in the left arm. It was slightly tender and relatively movable. We excised the mass, which was turned out to be Kimura's disease on microscopic examination.
Arm ; Head ; Lymphatic Diseases ; Neck ; Parotid Gland

Objective: This study aimed to evaluate the following null hypothesis: there are no differences in the morphology of the temporomandibular joint (TMJ) structures in relation to vertical and sagittal cephalometric patterns. Methods: This retrospective study was performed with 131 participants showing no TMJ symptoms. The participants were divided into Class I, II, and III groups on the basis of their sagittal cephalometric relationships and into hyperdivergent, normodivergent, and hypodivergent groups on the basis of their vertical cephalometric relationships. The following measurements were performed using cone-beam computed tomography images and compared among the groups: condylar volume, condylar size (width, length, and height), fossa size (length and height), and condyle-to-fossa joint spaces at the anterior, superior, and posterior condylar poles. Results: The null hypothesis was rejected. The Class III group showed larger values for condylar width, condylar height, and fossa height than the Class II group (p < 0.05). Condylar volume and superior joint space in the hyperdivergent group were significantly smaller than those in the other two vertical groups (p < 0.001), whereas fossa length and height were significantly larger in the hyperdivergent group than in the other groups (p < 0.01). The hypodivergent group showed a greater condylar width than the hyperdivergent group (p < 0.01). The sagittal and vertical cephalometric patterns showed statistically significant interactions for fossa length and height. Conclusions TMJ morphology differed across diverse skeletal cephalometric patterns. The fossa length and height were affected by the interactions of the vertical and sagittal skeletal patterns.

Objective: This study aimed to evaluate the following null hypothesis: there are no differences in the morphology of the temporomandibular joint (TMJ) structures in relation to vertical and sagittal cephalometric patterns. Methods: This retrospective study was performed with 131 participants showing no TMJ symptoms. The participants were divided into Class I, II, and III groups on the basis of their sagittal cephalometric relationships and into hyperdivergent, normodivergent, and hypodivergent groups on the basis of their vertical cephalometric relationships. The following measurements were performed using cone-beam computed tomography images and compared among the groups: condylar volume, condylar size (width, length, and height), fossa size (length and height), and condyle-to-fossa joint spaces at the anterior, superior, and posterior condylar poles. Results: The null hypothesis was rejected. The Class III group showed larger values for condylar width, condylar height, and fossa height than the Class II group (p < 0.05). Condylar volume and superior joint space in the hyperdivergent group were significantly smaller than those in the other two vertical groups (p < 0.001), whereas fossa length and height were significantly larger in the hyperdivergent group than in the other groups (p < 0.01). The hypodivergent group showed a greater condylar width than the hyperdivergent group (p < 0.01). The sagittal and vertical cephalometric patterns showed statistically significant interactions for fossa length and height. Conclusions TMJ morphology differed across diverse skeletal cephalometric patterns. The fossa length and height were affected by the interactions of the vertical and sagittal skeletal patterns.

Nutritional rickets, which is caused by deficiency of calcium or vitamin D, is a rare disease in developed countries. However some cases have been reported recently, that developed as a result of a restricted and nutritionally imbalanced diet due to atopic dermatitis and related food allergy. We treated two infant cases of nutritional rickets. The infants had suffered from atopic dermatitis, and were fed "Sun-sik" (a powdery mixture of several grains and fruits) without receiving cow's milk or any milk products in their diet. After an adequate supply of calcium and nutritional management, they were markedly improved.
Calcium ; Edible Grain ; Dermatitis, Atopic* ; Developed Countries ; Diet* ; Food Hypersensitivity ; Humans ; Infant ; Milk ; Rare Diseases ; Rickets* ; Vitamin D

The surgical results of 1500 patients with intracranial aneurysms operated in the neurosurgical department of our university hospital during the 17 year period from 1978 to 1994 were analysed with regard to the preoperative neurological status, preoperative CT findings and timing of surgical intervention. On the follow up examinations taken between 6 months to 9 years after operations, 1115 patients(74.3%) were classified as those having a good recovery, but 206 patients(13.7%) and 88 patients(5.9%) suffered some morbidity(fair and poor outcome respectively), and 91 patients(6.1%) died. Surgical results for the patients with good neurological status at admission were generally good: good outcome for the patients with Hunt and Hess grade 1 was 87.8% and that for those with grade 2 was 80.9%, while it was 29.6% and 6.7% for patients with grade 4 and 5, respectively. There was no difference of the rate of good outcome between early(0 to 3 days after bleeding) and late surgery(14 days or more after subarachnoid hemorrhage) groups, if poor graded cases were excluded from the early surgery group. Outcome was worse if the surgery was performed during the period between 4th and 10th days after initial bleeding. The major causes of unfavorable outcome(poor and dead) were initial hemorrhagic insults and delayed ischemic deficits. For further improvement of the overall surgical outcome, several factors must be concerned. First, early surgical intervention is recommended in good grade patients on admission but it should probably be delayed in patients with poor grades. Second, active management of poor grade patients should be scrutinized. Third, incidence of delayed ischemia may be lowered with positive consideration and preventive treatment towards vasospasm.
Aneurysm, Ruptured* ; Follow-Up Studies* ; Hemorrhage ; Humans ; Incidence ; Intracranial Aneurysm ; Ischemia

BACKGROUND: Epilepsy affects an individual's ability to work as well as their daily activities. Patients with epilepsy have difficulties in finding and maintaining jobs, and they may not have opportunities to perform adequately. Therefore, evaluation of work-fitness is important for patients with epilepsy. In this report, the authors reviewed a case of epilepsy and discussed aspects of the case for evaluation of work-fitness. CASE REPORT: A 43-year-old man with epilepsy visited the hospital for evaluation of work-fitness. His job consisted of forklift driving and crane operation using a remote control. As a seizure attack could threaten worker's safety, we recommended a job change. The employer refused to approve a job change due to the company's circumstances, so we recommended several conditions, including continuous medication, use of protective equipment, restriction of night-shift work, restriction of strenuous exercise, and profound sleep. An epilepsy event occurred during the follow-up period, prompting his company to evaluate his work. There were frequent movements of forklift operations and workers in the workplace, so we recommended restriction of forklift driving and a job change if possible. As a result, the employer changed his job and we recommended "capable of performing work without any conditions". CONCLUSION: For evaluation of work-fitness in patients with epilepsy, adequate job analysis, assessment of patient's medical conditions, and interviews of coworker and employers should be conducted. It is also important to let the employer make the best decision in terms of the patient's health and coworker's safety.
Adult ; Epilepsy ; Follow-Up Studies ; Humans ; Linear Energy Transfer ; Seizures ; Work Capacity Evaluation