To evaluate the atlantoaxial instability in children with Down syndrome, the authors analyzed the 97 children with Down syndrome attending to 2 schools for handicaped children in Pusan. The rsults of study were as follows; 1)The incidence of atlantoaxial instability in 97 individuals with Down syndrome was 8(8.3%) in neutral position and in 10(10.3%) in flexion, respectively. 2) The mean atlantoaxial gap was significantly higher in patients with Down syndrome than in the control group(P<0.05). 3) The mean atlantoaxial gaps in patients with Down stydrome according neck position was significantly higher in flexion(3.27 +/-1.08mm)than in neutral(2.63 +/-1.18)(p<0.05). 4) When mean atlantoaxial gaps of patients with Down syndrome were analyzed according to age groups, young age groups were statistically higher than old age groups in flexion position(p<0.05) but no statistically signigican differences were in neutral position. 5) The mean atlantoaxial gap of obese group was slightly higher than those of non-obese group but no statistically significant difference was noted(p<0.05).
Busan ; Child* ; Down Syndrome* ; Humans ; Incidence ; Neck

The nerve root block or selective nerve root block is one of the primarily preoperative diagnostic tool to identify and confirm the lesion site of primary cause of pain and that is considered as one component of a comprehensive treatment program. The purpose of our study is to evaluate the effect and duration of the pain control by selective spinal nerve root block as a conservative treatment in patients presenting with chronic or recurrent sciatica. The authors performed 95 selective nerve root blocks in 72 patients from Sep. 1994 to May. 1996, (mean follow up 11.6 month) at the department of orthopedic surgery, Kosin University Gospel Hospital, and the results were as follows: 1. Among 72 cases, spinal stenosis was in 45 cases (62.5%), HIVD in 19 cases (26.4%), failed back syndrome in 5 cases (6.9%), spondylosis in 2 cases (2.8%), and spondylolisthesis in I case (1.4%). 2. In 72 cases, improved more than 50% of sciatica were 61 cases (84.7%) at 3 hours, 53 cases (73.6%) at I week, 35 cases (48.6%) at 1 month, 33 cases (45.8%) at 3 months, and 33 cases (45.8%) at 6 months respectively. 3. At last follow-up, excellent and good results were 35 cases (48.6%), fair results were 25 cases (34.7%) and poor results were 12 cases (16.7%) by the Kirkaldy-Willis criteria. 4. Complications were 1 case of transient hypotension, 2 cases of severe paresthesia, but subsided without residual complication. Therefore, the selective nerve root block is one of the valuable procedure that is helpful and extremely safe in useful treatment for radicular pain associated with lumbar disease. And the trial of selective nerve root block was recommended before deciding surgical intervention on an outpatient basis.
Follow-Up Studies ; Humans ; Hypotension ; Orthopedics ; Outpatients ; Paresthesia ; Sciatica* ; Spinal Nerve Roots* ; Spinal Nerves* ; Spinal Stenosis ; Spondylolisthesis ; Spondylosis

Xanthogranulomatous pyelonephritis, an uncommon chronic inflammatory renal disorder of middle-aged women, is rarely seen in childhood. A 10 year-old boy with focal type of this disease in upper and lower pole was experienced. Patient had a intermittent fever and right flank pain without palpable mass. The blood analysis only revealed ESR increase but no anemia, no leukocytosis. There was no history or signs of urinary tract infection or calculi. The urine analysis and culture showed nothing abnormal. An intravenous pyelogram, ultrasonogram, abdominal CT and selective renal arteriography only demonstrated a non functioning upper pole of right kidney. During operation, a gross finding and frozen section strongly showed xanthogranulomatous pyelonephritis and diagnosis was made on histological examination, After nephrectomy, there had been no evidence of disease recurrence during 2 years follow-up period.
Anemia ; Angiography ; Calculi ; Child* ; Diagnosis ; Female ; Fever ; Flank Pain ; Follow-Up Studies ; Frozen Sections ; Humans ; Kidney ; Leukocytosis ; Male ; Nephrectomy ; Pyelonephritis, Xanthogranulomatous* ; Recurrence ; Tomography, X-Ray Computed ; Ultrasonography ; Urinary Tract Infections

No abstract available.
Meningitis* ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia* ; Pneumonia, Mycoplasma*

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Ethanol causes mucosal injury to the stomach and which accompanied by back-diffusion of H+. Using several drugs known to modify the gastric acid secretion and to provide cytoprotection the effect of back-diffusion of H+ by ethanol was examined. Following 48 hours of starvation rats were anesthetized with urethane, and their stomachs were filled with 4 ml of 20% ethanol solution containing 1.8 mM HCI (7.2 microEq/4 ml) every 15 min. H+ content of the collected perfusates was determined by back-titration to pH 6.0. The presence of ethanol in the stomach for 1 hour caused a loss of luminal H+ at a rate of 4.8 +/- 0.4 microEq/15 min. Pretreatment of rats with atropine (2 mg/Kg, i.v.), pirenzepine(2 mg/Kg. i.v.), cimetidine (10mg/Kg i.v.), cromolyn sodium (20mg/Kg/hr, i.v.) or domperidone (1 mg/kg. i.v.) did not affect the ethanol-induced H+ back-diffusion. Similarly, no effect was seen in rats treated with prostaglandin E2 (100 microgram/Kg i.v.) or indomethacin (5 mg/Kg, s.c). The addition of procaine (10(-5)~10(-3) M) or propranolol (10(-9)~10(-5) M) to the perfusate did not cause any changes in the ethanolinduced H+ back-diffusion. However, pretreatment of rats with acetazolamide (100 mg/Kg i.v.) or ethoxzolamide(50 mg/Kg/day, p.o. for 6 days), carbonic anhydrase inhibitors, markedly suppressed the ethanol-induced loss of luminal H+. Based on these results, it is suggested that ethanol-induced back-diffusion of H+ is mediated, at least in part, by the activity of carbonic anhydrase, and that cholinergic, histaminergic and dopaminergic mechanisms are not involved. Moreover, the implications of prostaglandins and membrane stability are not suggested.
Absorption ; Animal ; Diffusion ; Ethanol/pharmacology* ; Female ; Gastric Acid/secretion* ; Gastric Mucosa/drug effects* ; Male ; Parasympatholytics/pharmacology ; Protons* ; Rats

PURPOSE: This study was undertaken to determine the adequate cutoff value of the neonatal screening test to decrease recall and false-positive rates. METHODS: During the period of January 1999 through December in Asan Medical Center, newborn screening tests for phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia were performed in 3,775, 3,707, 3,783, and 3,806 newborns respectively using commercial ELISA kits. We reviewed and analyzed the recall rate at currently used cutoff values. RESULTS: 1)In neonatal screening test for congenital hypothyroidism, using a current cutoff value, 17 microIU/mL, the recall rate was 0.9% and using a 99.7% cutoff value, 21.3 microIU/mL, the predictive recall rate was 0.4%. There were no significant differences in the other reports that suggest adequate recall rate. 2)In neonatal screening test for phenylketonuria, using a current cutoff value, 3.6 mg/dL, the recall rate was 1.5% which was no significant difference compared with expected presumptive positive rate, 1.44%. 3)In neonatal screening test for congenital adrenal hyperplasia and galactosemia, the recall rate was high when using current cutoff value. But all results were within normal limits in reevaluation. CONCLUSION: The cutoff values of screening test which are currently recommended by manufacturers of commercial kits for congenital hypothyroidism, congenital adrenal hyperplasia and galactosemia, are needed to be reset to decrease the recall rate by false-positive results on the basis of data from an individual newborn screening laboratory.
Adrenal Hyperplasia, Congenital ; Chungcheongnam-do ; Congenital Hypothyroidism ; Enzyme-Linked Immunosorbent Assay ; Galactosemias ; Humans ; Infant, Newborn ; Mass Screening ; Neonatal Screening* ; Phenylketonurias

BACKGROUND: Uterine myoma is the most common benign gynecologic tumor in reproductive-aged women. During myomectomy for women who want to preserve fertility, it is advisable to detect and remove all myomas to decrease the risk of additional surgery. However, finding myomas during surgery is often challenging, especially for deep-seated myomas. Therefore, three-dimensional (3D) preoperative localization of myomas can be helpful for the surgical planning for myomectomy. However, the previously reported manual 3D segmenting method takes too much time and effort for clinical use. The objective of this study was to propose a new method of rapid 3D visualization of uterine myoma using a uterine template. METHODS: Magnetic resonance images were listed according to the slide spacing on each plane of the multiplanar reconstruction, and images that were determined to be myomas were selected by simply scrolling the mouse down. By using the selected images, a 3D grid with a slide spacing interval was constructed and filled on its plane and finally registered to a uterine template. RESULTS: The location of multiple myomas in the uterus was visualized in 3D and this proposed method is over 95% faster than the existing manual-segmentation method. Not only the size and location of the myomas, but also the shortest distance between the uterine surface and the myomas, can be calculated. This technique also enables the surgeon to know the number of total, removed, and remaining myomas on the 3D image. CONCLUSION: This proposed 3D reconstruction method with a uterine template enables faster 3D visualization of myomas.
Animals ; Female ; Fertility ; Humans ; Leiomyoma ; Magnetic Resonance Imaging ; Methods ; Mice ; Myoma ; Uterine Myomectomy ; Uterus