Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. We have analyzed CYP21 genes of CAH by PCR direct sequencing. Our results shows three cases of CAH owing to multiple mutations of CYP21 gene; first case, IVS2AS, A/G, -13, Ile172Asn; second case, IVS2AS, A/G, -13, Ile236Asn, Val237Glu, Met239Lys; third case, Ile172Asn, C to G at 1590nt, Val281Leu, Arg484Pro, G to A at 2697nt. Mutations such as Ile236Asn, Val237Glu, Met239Lys, and Arg484Pro are first noted in Korea.
Adrenal Hyperplasia, Congenital* ; Cholesterol ; Hydrocortisone ; Korea ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase

No abstract available.
Tibia*

To investigate the correlation of peripapillary atrophy with optic disc dupping and disc hemorrhage in primary open angle glaucoma(POAG) patients, tomographic measurements were performed with Heidelberg Retina Tomograph(HRT, Heidelberg Engineering, Germany). We analyzed cup to disc area ratio(C/D ratio) and peripapillary atrophy to disc area ratio(P/D ratio) from 28 eyes of 14 POAG patients with peripapillary atrophy(Group A), only C/D ratio from 28 eyes of 14 POAG patients without peripapillary atrophy(Group B), and only P/D ratio from 28 eyes of non-glaucomatous subjects with peripapillary atrophy(Group C). Group A was subclassified into thos with disc hemorrhage (Group A-1) and those without dixd hemorrhage(Group A-2), and changes of visual field defects were also analyzed from each subgroup witn Humphrey automated perimetry (Allergan Humphrey, USA, C24-2) at the six-month follow-up. Cup to disc area ratio(0.54+/-0.160)in the Group A was signifcantly higher than that(0.406+/-0.130) in the Group B, and P/D ratio was higher in Group A(0.619+/-0.203) than in the Group C(0.484+/-0.130). P/D ratio was also higher in Group A-1(0.725+/-0.34) than in the Group A-2(0.605+/-0.273). There was no significant difference in mean deviation(M/D) and corrected pattern standard deviation(CPSD) between Group A-1 and Group A-2. The results led us to the conclusion that peripapillary atrophy had significant correlation with glaucomatous damage on optic disc and disc hemorrhage in glaucoma patients. Therefore more attention should be paid tod a glaucoma patient especially when he or she presents with peripapillary atrophy.
Atrophy* ; Follow-Up Studies ; Glaucoma ; Glaucoma, Open-Angle* ; Hemorrhage* ; Humans ; Retina ; Visual Field Tests ; Visual Fields

This study is to analyze the stress and displacement on the jaws during the bilateral and unilateral clenching task on three dimensional finite element model of the dentated skull. For this study, the computed tomography(G.E.8800 Quick, USA) was used to scan the total length of human skull in the frontal plane at 1.9mm intervals. The CAD data were extracted from the tomograms through digitizer(Summa Sketch III,USA) and then reconstructed by means of the spline method in the CAD program. In this project, a commercial software I-DEAS(Master Series version 3.0, SDRC Inc, USA) was used for three-dimensional stress analysis on the finite element model. which consists of articular disc, maxilla, mandible, teeth, periodontal ligament and cranium. The results are as follows. ; 1. During the bilateral clenching, each major muscle forces caused high stresses on various areas of skull: masseter muscle on articular disc and teeth; temporal muscle on mandible and periodontal ligament; medial pterygoid muscle on the temporomandibular joint. During the unilateral clenching, masseter muscle induced the maximum stress; medial pterygoid muscle the minimum stress. 2. During the bilateral clenching, higher compressive stresses on articular disc were generated by the masseter muscle and higher deformation occurred on the most front outer sites. And during the unilateral clenching, temporal muscle and medial pterygoid muscle exerted their forces to twist temporomandibular joint area of the balancing side and induced a higher compressive stresses on the front outer sites of articular disc. 3. During the bilateral clenching, the masseter muscle bended the mandible outwardly, and then caused tensile stresses on the lingual surface of mandibular symphysis. And the medial pterygoid muscle caused tensile stresses on the labial surface of mandibular symphysis. 4. When each muscles were simultaneously applied on jaws, a high stress and displacement took place on mandible rather than on the maxilla.; Also, a high stress and displacement took place during the unilateral clenching rather than during the bilateral clenching.
Humans ; Jaw* ; Mandible ; Masseter Muscle ; Maxilla ; Muscles ; Periodontal Ligament ; Pterygoid Muscles ; Skull ; Temporal Muscle ; Temporomandibular Joint ; Tooth

A Case of Fibromuscular dysplasia involoving the left internal carotid and middle cerebral rtery in a previously healthy man is presented. Symptoms were characteristic of cerebral schemia in the territory that the left middle cerbral artery supplies. This case suggests that The fibromuscular dysplasia is one of the causes provoking cerebral infarction.
Arteries ; Cerebral Infarction* ; Equipment and Supplies ; Fibromuscular Dysplasia*

Aneurysms arising from the posterior circulation are 5-19% of total intracranial aneurysms. Althought many neurosurgeons have challended with various innovations but the confinned surgical space, complicated anatomical structure and many small perforators to vital organ of brain were remained the barrier that we we have to overcome. From July 1987 to December 1994, we have been operated on 23 cases of posterior circuation aneurysms among 409 cases of surgically treated all intracranial aneurysms. The present 5.6% of all intracranial aneurysms, the average age of these patients was 49 years old. The ratio of male to female was 1 : 1.8. The number of basilar bifurcation artery aneurysms(BBAA) were 14(61%), the posterior cerebral artery(PCA) aneurysms 3(13%), the upper basilar trunk aneurysm 1, posterior inferior cerebellar artery(PICA) aneurysm 3(13%), anterior inferior cerebellar artery(AICA) aneurysm 1 and vertebral artery aneurysm 1. Five patients had accompanined with anterior circulation aneurysm and one patient had concomitant arteriovenous malformation. We have successfully clipped 12 cases and wrapped 2 cases of BBAA aneurysms through modified pterional approach and subtemporal approach according to the hight of basilar bifurcation and the other posterior circulation aneurysms are all clipped through most available approaches including lateral, far-lateral suboccipital and interhemispheric approach. Surgical outcome was good in 15 cases, fair in 4 cases, poor in 3 cases and one patient expired.
Aneurysm* ; Arteries ; Arteriovenous Malformations ; Brain ; Female ; Humans ; Intracranial Aneurysm ; Male ; Middle Aged ; Vertebral Artery

We investigated the effect of experimentally induced anisometropia on binocular function. Unilateral myopia, hyperopia, or astigmatism(Axis 90degrees) was induced in eighteen adults with normal binocular function using softcontact lenses. Sensory status was assessed by measuring stereoacuity, Worth four dot test, and Bagolini lens test. Binocular function of all subjects decreased with increasing levels of anisometropia. In Worth four dot test, foveal suppression increased in proportion to the levels of anisometropia. Stereoacuity was similarly degraded by the induced anisometropia. Bagolinilens responses were normal in almost all subjects. Our study suggest that experimentally induced anisometropia cause significant abnormalities in binocular function in adults.
Adult ; Anisometropia* ; Humans ; Hyperopia ; Myopia ; Telescopes* ; Vision, Binocular*

Childhood chronic abdominal pain usually doesn't have an organic etiology. It may cause social impairment and emotional distress in children as well as their families. In view of cognitive and behavioral aspect, passive coping style, maladaptive social modeling, and reinforced secondary gain could contribute to the development and maintenance of pediatric somatization. Integrative etiological model includes biological factors due to the enteric sensitization process, psychosocial factors which encompass family influences, psychodevelomental vulnerability, and life event-related stress. These factors interact with each other and manifest as various psychosomatic symptoms. In the treatment of childhood chronic abdominal pain, multimodal treatment program, which includes cognitive behavioral therapeutic methods, emotional support, family education, selective serotonin reuptake inhibitor, and so on, is known to be most effective.
Abdominal Pain ; Biological Factors ; Child ; Combined Modality Therapy ; Humans ; Serotonin

We investigated the effects of panretinal photocoagulation (PRP)on macular microcirculation in diabetic retinopathy. PRP using argon blue green laser was performed in 23 eyes of 15 patients with early proliferative diabetic etinopathy and very severe nonproliferative diabetic retinopathy without significant macular edema. The changes in volume, flow, velocity of macular microcirculation were measured before PRP, 1 hour, 1 day, 1 week, and 1 month following PRP, using Heidelberg Retina Flowmeter(HRF). Mean volume, flow, velocity of macular microcirculation decreased to a maximal degree 1 hour following PRP, from 14.87+/-0.40, 387.45 +/-101.40, 1.40+/-0.28(before PRP)to 12.44+/-1.39, 347. 33+/-100.39, 1.27+/-0.34(p<0.05). From 1hour to 1 month after PRP, macular microcirculation gradually increased. However, throughout this period, all parameters of macular microcirculation remained lower than pre-PRP level(p<0.05). Our study suggests that panretinal photocoagulation reduces the macular microcirculation in diabetic retinopathy.
Argon ; Diabetic Retinopathy ; Humans ; Light Coagulation* ; Macular Edema ; Microcirculation* ; Retina ; Retinaldehyde*

A close relationship has emerged between obstructive sleep apnea (OSA) and cardiac arrhythmia. However, transient sinus arrest or atrioventricular (AV) conduction disturbance during rapid eye movement (REM) sleep was rarely reported. This sleep stage specific arrhythmia has been referred to as REM sleep-related bradyarrhythmia syndrome. The differential diagnosis between OSA-related arrhythmia and REM sleep-related bradyarrhythmia syndrome is important in determining the treatment strategy for the underlying disease and its complication, especially in patient with a history of OSA. Here, we report a case with both REM sleep-related AV block and severe OSA, whose REM sleep-related AV block was not improved with continuous positive airway pressure treatment.
Arrhythmias, Cardiac ; Atrioventricular Block ; Bradycardia ; Continuous Positive Airway Pressure ; Diagnosis, Differential ; Humans ; Sleep Apnea, Obstructive ; Sleep Stages ; Sleep, REM