No abstract available.
Masticatory Muscles* ; Trismus*

BACKGROUND: Trisomy 16 in mice is considered to be an animal model for Down's syndrome in human. We studied the morphologic characteristics of the heart and the edema, and their significance to the teratogenesis in this animal model. METHODS: A total of 30 dams were sacrificed to bear 125 (61.9%) normal fetuses 35 (17.3%) abnormal fetuses and 42 (20.8%) resorptions. Cytogenetic study and morphological examination were performed using microdissection agar-mount sectioning histologic examination and scanning electron microscope. RESULTS: The crown-rump length was significantly shorter in abnormal (trisomic fetuses) than the normal (eusomic) fetuses. Trisomic fetuses showed massive edema at the back from the vertex to the lumbar area. Four-chamber view section of the agar-mount and histologic section showed a common atrioventricular valve bridging the left and the right atrioventricular junction. Scanning electron microscopic examination on atrioventricular valves showed three types of atrioventricular valves:five cases with common atrioventricular orifice, three cases with partitioned atrioventricular orifice and two cases with atresia of the right atrioventricular orifice. CONCLUSION: This study confirmed the presence of massive edema and cardiac anomalies in the mouse with trisomy 16. But there was morphologic diversity of cardiac anomaly in this model.
Animals ; Crown-Rump Length ; Cytogenetics ; Down Syndrome ; Edema* ; Endocardial Cushion Defects ; Fetus* ; Heart ; Humans ; Hydrops Fetalis ; Mice ; Microdissection ; Models, Animal ; Pathology* ; Teratogenesis ; Trisomy*

Endometriosis in the episiotomy scar following vaginal delivery is one of the very rare condition among the extrapelvic endometriosis. We have experienced two cases of endometriosis in the episiotomy scar following vaginal delivery. We report two cases with a brief review of the concerned literatures.
Cicatrix* ; Endometriosis* ; Episiotomy* ; Female

PURPOSE: We performed this study to describe the findings of MR Myelography(MRM) of herniated disc disease, spinal stenosis and spinal tumor and to evaluate the usefulness of the MRM in comparison to MRI. MATERIALS AND METHODS: MRI and MRM were performed in 31 patients with herniated disc disease(12 patients), spinal stenosis(11 patients) and spinal tumor(8 patients). MRI and MRM were done with 1.5-T Signa MR, using fat suppressed heavily T2-weighted fast spin echo technique. We retrospectively analyzed MRM images about the thecal sac indentation, compression or displacement of the nerve root, extent and degree of narrowing of spinal canal, relationship between spinal tumor and spinal cord. MRM findings were compared with MRI in all cases. RESULTS: In 18 herniated disc cases of 12 patients, focal filling defect with cutoff or displacement of the nerve root in eight cases of paracentral herniated disc was seen. Cutoff and displacement of the nerve root were more clearly delineated on MRM than rvlRI. In the patients of spinal stenosis(11 cases), hourglass deformity of the thecal sac or complete spinal block of the subarachnoid space was clearly demonstrated. The extent and severity of spinal stenosis were more accurately evaluated on MRM than MRI. MRM finding of intramedullary tumor(3 cases) was enlargement of spinal cord. Five cases of intradural extramedullary tumor showed intradural filling defect, which caused contralateral displacement of the spinal cord with meniscus sign on inferior margin of the mass. CONCLUSION: MRM shows characteristic findings of herniated disc disease, spinal stenosis and spinal tumor. MRM yields excellent definition of the thecal sac, nerve roots and nerve root sleeves in relation to herniated disc and may be more accurate in evaluation of the degree and extent of spinal stenosis than MRI.
Congenital Abnormalities ; Constriction, Pathologic ; Humans ; Intervertebral Disc Displacement ; Magnetic Resonance Imaging ; Myelography* ; Retrospective Studies ; Spinal Canal ; Spinal Cord ; Spinal Diseases ; Spinal Stenosis ; Subarachnoid Space

PURPOSE: In a developing kidney, the renin-angiotensin system(RAS) is markedly activated and is thought to play an important role in postnatal renal growth and maturation. We previously demonstrated that angiotensin converting enzyme(ACE) inhibition in a developing rat kidney increases apoptosis and decreases its related gene expressions, which may account for renal growth impairment. Among the mitogen-activated protein kinases(MAPK) family members, c-jun N terminal kinase(JNK) and p38 MAPK(p38) are thought to inhibit cell growth and induce apoptosis. This study was designed to investigate the relationship between the RAS and the MAPK family during neonatal renal development. METHODS: Forty-nine neonatal Spargue-Dawley rats were separated into two groups. The enalapril group was treated with ACE inhibitor(enalapril:30 mg/kg/day) and the control group with normal saline for seven days. Their kidneys were removed for immunohistochemical stain and western blot analysis of JNK-2 and p38. RESULTS: In the enalapril group, JNK-2 expression was strongly detected in the dilated cortical tubular epithelial cells, and JNK-2 protein expression was significantly increased compared to the control group. p38 expression was noted in the dilated tubular epithelial cells by ACE inhibitor and also p38 protein expression was significantly increased. CONCLUSION: These results suggest that the expressions of the MAPK family, especially JNK and p38, are modulated by ACE inhibition in the neonatal rat kidney. In regard of the correlation between MAPK activations and the occurrence of apoptosis in renal growth impairment by ACE inhibition, JNK and p38 may be implicated to participate in angiotensin II related intracellular signaling pathways of renal apoptosis in developing kidney.
Angiotensin II ; Angiotensins* ; Animals ; Apoptosis ; Blotting, Western ; Enalapril ; Epithelial Cells ; Gene Expression ; Humans ; Kidney* ; Mitogen-Activated Protein Kinases ; Models, Animal ; p38 Mitogen-Activated Protein Kinases ; Peptidyl-Dipeptidase A* ; Protein Kinases* ; Rats* ; Renin-Angiotensin System

No abstract available.
Eosinophilic Granuloma* ; Eosinophils* ; Meningitis, Bacterial*

BACKGROUND AND OBJECTIVES: Mutations of the SLC26A4 gene cause congenital hearing loss and enlarged vestibular aqueduct (EVA). A considerable proportion of patients with SLC26A4 mutations have significant residual hearing at birth that eventually worsen and become the cause for cochlear implantation (CI) later in their adolescence or adulthood. We analyzed the auditory outcome and prognostic factors of CI in patients with EVA and biallelic SLC26A4 mutations showing progressive early-onset hearing loss, who eventually had implantation in their adolescent or adult periods. SUBJECTS AND METHOD: Sixteen patients with EVA carrying biallelic SLC26A4 mutations who received CI after 12 years of age were included for analysis. The outcome and prognostic factors of CI were analyzed. The postoperative follow-up period ranged from 3 to 48 months. RESULTS: The age at CI ranged from 12 to 44 years. The categories of auditory performance score was significantly improved after CI from 3.1 to 4.9 (p < 0.05). The mean sentence scores improved significantly in the auditory-visual and auditory-only conditions (p < 0.05). The significant prognostic factors were measurable bone conduction thresholds, preoperative residual hearing, recent history of sudden aggravation of hearing loss, and preoperative speech intelligibility rating scores. There was a tendency of lower postoperative sentence scores in the group with homozygous H723R mutation, but statistical significance was not reached. CONCLUSION: Despite the early-onset of hearing loss, significant improvement in auditory performance can be expected after CI in adolescent and adult patients with EVA and biallelic SLC26A4 mutations. Significant prognostic factors should be considered in selecting candidates and preoperative counseling for CI.
Adolescent* ; Adult* ; Bone Conduction ; Cochlear Implantation* ; Cochlear Implants* ; Counseling ; Extravehicular Activity ; Follow-Up Studies ; Hearing ; Hearing Loss ; Humans ; Methods ; Parturition ; Speech Intelligibility ; Vestibular Aqueduct*

PURPOSE: Leigh syndrome is a kind of mitochondrial disease with a pathological production of lactate and variable clinical manifestations. Recently biochemical assay of the mitochondrial enzyme activity and MRS are becoming a powerful tool for the definitive antemorterm diagnosis of this disease. The aim of this study was designed to determine the usefulness of biochemical enzyme assay and MRS in Leigh syndrome. METHODS: A clinical study of 8 cases of pediatric patients were diagnosed as Leigh syndrome on the basis of clinical manifestations and MRI features at the department of pediatrics, Ulsan university hospital, from July, 1992 to June, 1997. Biochemical enzyme assay of the cultured skin fibroblasts was consulted to hospital for sick children, Toronto, Canada. Cerebral lactates were detected on MRS were analysed in relation to the MRI findings and lactate levels in the CSF. RESULTS: 1) Age at diagnosis ranged from 7 months to 8.9 years; seven were boys and one was girl. 2) Main clinical symptoms were as follows in the order of frequency; seizure(75%), ophthalmoplegia(50%), hemiplegia(50%), hypotonia(50%), respiratory difficulty(50%), developmental delay(38%), consciousness change(38%), mental retardation( 25%). 3) Anatomical locations of the focal lesions detected on the initial MRI were as follows in the order of frequency; putamen(75%), caudate nuclei(63%), medulla oblongata (18,50%), substantia nigra(38%), thalamus(38%). 4) Biochemical enzyme assay revealed deficiency of NADH cytochrome c reductase (complex I) and deficiency of cytochrome c oxidase(complex N) respectively in 2 patients who had markedly elevated serum and CSF lactate levels and lactate/pyruvate ratio. 5) Cerebral lactates were detected by MRS from 6 lesions of 1 week-4 months old in 6 patients who had normal or mildly elevated serum and CSF lactate levels and lactate/pyruvate ratio. CONCLUSION: MRS detected the brain parenchymal lactate non-invasively from the acute or subacute lesions. Therefore, combined evaluation by MRS and biochemical enzyme assay will provide an important information for the diagnosis and estimation of disease activity in pediatric patients who are suspected to have Leigh syndrome.
Brain ; Canada ; Child ; Consciousness ; Cytochromes c ; Diagnosis ; Enzyme Assays* ; Female ; Fibroblasts ; Humans ; Lactates ; Lactic Acid ; Leigh Disease* ; Magnetic Resonance Imaging ; Medulla Oblongata ; Mitochondrial Diseases ; NADH Dehydrogenase ; Pediatrics ; Skin ; Ulsan

To assess the reproducibility of Sphincter of Oddi(SO) manometry, percutaneous manometry of SO was performed repeatedly in 10 subjects with biliary diseases(9 intrahepatic stone cases and 1 bile duct cancer case). Time interval for measurement of SO manometry was 3 to 7(mean 5) days. Mean manometric parameters of SO phasic contraction in the 1st and 2nd studies were not significantly different. However, as a result of manometric records, a diagnosis of dyskinesia was made in the 1st study from 4 patients(tachyoddia in 3 cases and increased retrograde propagation in one case). Among them, the diagnosis was reproduced in the 2nd study from 2(tachyoddia in 2 cases) out of 4 patients. In conclusion, abnormal manometric findings were poorly reproducible. Thus, more prolonged measurement of SO manometry or a dynamic test which stimuli or inhibit the SO activity may be necessary for accurate diagnosis of biliary dyskinesia and better reproducibility of SO manometry.
Bile Duct Neoplasms ; Biliary Dyskinesia ; Diagnosis ; Dyskinesias ; Humans ; Manometry* ; Sphincter of Oddi*

BACKGROUND: The incidence of Crohn's disease in the upper digestive tract, and especially in the stomach, is recently increasing. Focal inflammatory reaction without Helicobacter pylori (H. pylori) infection is thought to be the characteristic pathologic findings suggesting Crohn's disease in the stomach. Yet gastric involvement of Crohn's disease has not been studied in Korea. We studied the endoscopic and pathologic findings of patients with Crohn's disease in the stomach by taking biopsies. METHODS: Thirty patients with Crohn's disease who underwent gastroduodenoscopy followed by biopsies were included in the study. The pathology of the gastric biopsy specimens and the presence of H. pylori were evaluated. RESULTS: Among 30 cases, 22 cases (73.3%) were H. pylori negative and 8 cases (26.7%) were H. pylori positive. For the H. pylori negative cases, all but one cases showed pit abscess and focal lymphocytic collections in the antrum. Granulomas were found in 6 cases (20%) and they were exclusively located in the antrum. CONCLUSIONS: In the stomach, pit abscess and focal lymphocytic collections that are not associated with H. pylori infection are the characteristic pathologic findings found in Crohn's disease.
Abscess ; Biopsy ; Crohn Disease* ; Gastrointestinal Tract ; Granuloma ; Helicobacter pylori ; Humans ; Incidence ; Korea ; Pathology ; Stomach*