Holoprosencephaly, a grave malformation during cleavage phase of brain development, occurs in association with a variety of clinical syndrome including chromosomal aberration. Among chromosomal anomalies trisomy syndromes, particularly trisomy 18, are often associated with holoprosencephaly. Triploidy with holoprosencephaly had also been described. We report an autopsy case of incomplete triploidy with abnormal sex chromosome, i.e., 63, XXY. Our case showed a marked intrauterine growth retardation, and postmortem examination revealed alobar holoprosencephaly, hypotelorism, bilateral cleft palates and lips, flat nose, microstomia, lowset ears, congenital heart disease and cystic kidney. The brain was microcephalic 5 x 6 cm and was of pancake shape. there was a large dorsal cyst. Olfactory tracts and bulbs were absent. The brain surface was smooth, and only suggestive hippocampal fissure was noted. The basal ganglia and thalami were fused in midline and the aqueductal origin was exposed. The brain stem and cerebellum were unremarkable. Repeated karyotypings revealed 63,XXY consistently. All 21 chromosomes showed trisomy except for D group. The sex chromosome was XXY, and the genital tract and gonad were those of female.
Female ; Humans

No abstract available.

Morphological changes of hepatic microcirculation, especially in the peribiliary plexus, in cirrhotic livers of rats induced by repeated intraperitoneal injections of N-diethyinitrosamine (DEN) (100mg/kg/week) were studied by scanning electron microscopy. Control rats were treated with saline. The livers were perfused with saline and injected with methyl-methacrylated resin (Mercox CL-2B) through the thoracic aorta. Diffuse nodular changes mimicking human cirrhosis were seen in the livers six weeks after injections of DEN. The cirrhotic livers showed an increase of vascular channels composed mainly of venous branches around the regenerating nodules and increased arterioloportal anastonloses. Peribiliary plexi of the cirrhotic livers had more vessels than those of the controls. Many dilated veins and ramificating portal vein branches were also Present. Direct connections between peribiliary plexi and sinusoids or between peribiliary plexi and portal veins were increased in the cirrhotic liver. These results suggest that the peribiliary plexi in experimentally induced cirrhotic liver might play a role in a collateral circulation under a state of portal hypertension.
Humans ; Rats ; Animals

PURPOSE: This study was undertaken to correlate the CT and histopathologic findings of abscess wall. MATERIALS AND METHODS: The CT findings of 12 patients with pathologically proven brain abscess were retrospectively analyzed with particular attention to the thickness, smoothness and uniformity of enhancing abscess wall, and the results were correlated with histopathologic findings. RESULTS: Two patients with acute cerebritis showed an isodense ring on non-contrast CT(NCCT), but a true capsule formation could not be identified at pathologic examination. Six other patients with isodense ring on NCCT consisted of early to late cerebritis(3 cases), late cerebritis to early capsule(1 case), early capsule(1 case), and late capsule(1 case). These 6 cases showed ring enhancement on contrast enhanced CT(CECT) and true capsule formation pathologically. There was no isodense ring on NCCT in the remaining four patients. They consisted of early to late cerebritis(2 cases), late cerebritis(1 case), and late cerebritis to early capsule formation(1 case). These also showed ring enhancement on CECT and true capsule formation pathologically. CONCLUSION: We found that it is difficult to predict the exact stage of brain abscess on preoperative CT findings. It is suggested that clinical findings and sequential dynamic CT may provide more detailed informations for evaluation of abscess staging.
Abscess ; Brain Abscess* ; Brain* ; Humans ; Retrospective Studies

BACKGROUND: Nocturia is a common event among the elderly that is often understood to be a potential cause of sleep disorder. However, only a few such studies have been reported in Korea. The purpose of this study was to investigate physical diseases including nocturia as a risk factor for sleep disturbance in the Korean elderly. METHODS: Subjects included 433 patients older than 60 years (average age, 69.7 years) who had completed a structured questionnaire from June to August 2009. The questionnaire asked about the quality of their sleep, nocturia and physical diseases such as hypertension, diabetes mellitus, gastrointestinal problems, arthralgia and chronic obstructive pulmonary disease. Logistic regression analysis was used to evaluate the nocturia and the physical diseases associated with sleep. RESULTS: Incidence of nocturia increased with age and showed a significant variation among the different age groups (p<0.05): 35.7% in their 60s, 41.5% in their 70s and 60.4% in their 80s and older. Nocturia (odds ratio [OR], 1.68; 95% confidence interval [CI], 1.10 to 2.58) and arthralgia (OR, 1.69; 95% CI, 1.10 to 2.60) were two important factors causing sleep disorder. CONCLUSION: In conclusion, nocturia and arthralgia were the main causes of sleep disorder. As the elderly population is continually increasing, further studies are needed to improve our understanding of this subject and to find a potential cure.
Aged ; Arthralgia ; Diabetes Mellitus ; Humans ; Hypertension ; Incidence ; Korea ; Logistic Models ; Nocturia ; Pulmonary Disease, Chronic Obstructive ; Surveys and Questionnaires ; Risk Factors

BACKGROUND: Nocturia is a common event among the elderly that is often understood to be a potential cause of sleep disorder. However, only a few such studies have been reported in Korea. The purpose of this study was to investigate physical diseases including nocturia as a risk factor for sleep disturbance in the Korean elderly. METHODS: Subjects included 433 patients older than 60 years (average age, 69.7 years) who had completed a structured questionnaire from June to August 2009. The questionnaire asked about the quality of their sleep, nocturia and physical diseases such as hypertension, diabetes mellitus, gastrointestinal problems, arthralgia and chronic obstructive pulmonary disease. Logistic regression analysis was used to evaluate the nocturia and the physical diseases associated with sleep. RESULTS: Incidence of nocturia increased with age and showed a significant variation among the different age groups (p<0.05): 35.7% in their 60s, 41.5% in their 70s and 60.4% in their 80s and older. Nocturia (odds ratio [OR], 1.68; 95% confidence interval [CI], 1.10 to 2.58) and arthralgia (OR, 1.69; 95% CI, 1.10 to 2.60) were two important factors causing sleep disorder. CONCLUSION: In conclusion, nocturia and arthralgia were the main causes of sleep disorder. As the elderly population is continually increasing, further studies are needed to improve our understanding of this subject and to find a potential cure.
Aged ; Arthralgia ; Diabetes Mellitus ; Humans ; Hypertension ; Incidence ; Korea ; Logistic Models ; Nocturia ; Pulmonary Disease, Chronic Obstructive ; Surveys and Questionnaires ; Risk Factors

PURPOSE: This study evaluated the treatment effectiveness and proper radiation dose of helical tomotherapy (HT) in spine oligometastases from gastrointestinal cancers. MATERIALS AND METHODS: From 2006 to 2010, 20 gastrointestinal cancer patients were treated with HT for spine oligometastases (31 spine lesions). The gross tumor volume (GTV) was the tumor evident from magnetic resonance imaging images fused with simulation computed tomography images. Clinical target volume (CTV) encompassed involved vertebral bodies or dorsal elements. We assumed that the planning target volume was equal to the CTV. We assessed local control rate after HT for 31 spine metastases. Pain response was scored by using a numeric pain intensity scale (NPIS, from 0 to 10). RESULTS: Spine metastatic lesions were treated with median dose of 40 Gy (range, 24 to 51 Gy) and median 5 Gy per fraction (range, 2.5 to 8 Gy) to GTV with median 8 fractions (range, 3 to 20 fraction). Median biologically equivalent dose (BED, alpha/beta = 10 Gy) was 52 Gy10 (range, 37.5 to 76.8 Gy10) to GTV. Six month local control rate for spine metastasis was 90.3%. Overall infield failure rate was 15% and outfield failure rate was 75%. Most patients showed pain relief after HT (93.8%). Median local recurrence free survival was 3 months. BED over 57 Gy10 and oligometastases were identified as prognostic factors associated with improved local progression free survival (p = 0.012, p = 0.041). CONCLUSION: HT was capable of delivering higher BED to metastatic lesions in close proximity of the spinal cord. Spine metastases from gastrointestinal tumors were sensitive to high dose radiation, and BED (alpha/beta = 10 Gy) higher than 57 Gy10 could improve local control.
Disease-Free Survival ; Gastrointestinal Neoplasms ; Humans ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; Radiotherapy, Intensity-Modulated ; Recurrence ; Spinal Cord ; Spine ; Treatment Outcome ; Tumor Burden

Several reports on burst fractures of the thoracolumbar spine have noted that the neural canal encroachment caused by bone in the canal did not correlate with the neurologic status of the patient. But in the thoracolumbar spine the average percent compromise was significantly higher in those patients with complete and incomplete lesions, compared with those patients with no neural deficits. In this study, we evaluated 38 patients with unstable thoracolumbar fractures, operated from March 1989 to February 1993 to know the amount of neural canal compromise, demonstrated on computed tomography scans with neurologic status, level of injury and type of fractures. Among them 22 patients had neurologic deficit and 16 did not neurologic deficit. The results were as follows; 1. 19(76%) of 22 patients with disruption of the posterior spinal elements had neurologic defictis. 2. In the group with neurologic deficits, the stenotic ratio was 44% at the epiconus level, 55% at the conus medullaris, level and 63% at the cauda equna level. 3. The average A-P diameter of the bony fragments retropulsed into the spinal canal was 4.5mm at the epiconus level, 5.2mm at the conus medullaris level and 6.0mm at the cauda equina level. 4. Unstable bursting fracture and fracture dislocation showed higher incidence of neurologic injury and percentage of spinal stenotic ratio than those of flexion distraction and wedge compression fracture. In conclusion, the higher the level of the injured vertebrae, the smaller the size of the retropulsed fragment needed compromise the neural tissues. We suggest that it is necessary to get enough decompression for restoration of spinal canal and recovery of neurological function and computed tomography was more sensitive than any other modality in detection the reduction of the retropulsed bony fragment into spinal canal.
Cauda Equina ; Decompression ; Dislocations ; Fractures, Compression ; Humans ; Incidence ; Neural Tube ; Neurologic Manifestations ; Spinal Canal ; Spinal Cord ; Spine ; Tomography, X-Ray Computed

BACKGROUND: The growing number of spinal cord injured individuals facing old age makes the understanding of age related limitations increasingly important. This study was to investigate the age-related differences in rehabilitation outcome according to the level of cervical spinal cord injury and each category of activity of daily living(ADL). METHODS: Subjects were 79 adults with tetraplegia all of whom were admitted in National Rehabilitation Hospital. The level of injury was classified into upper cervical(C4, C5), mid-cervical(C6), and lower cervical(C7, C8) spinal cord injury. Eight ADL categories including feeding, grooming, bathing, dressing, toileting, bed-transfer, toilet/tub transfer, and indoor mobility were assessed using the scale of Spinal Cord Independence Measure. Age related differences were examined by separating the sample into two age groups(> or =40 and <40 years) RESULTS: There was no age related difference in rehabilitation outcome in upper cervical cord injury patients. In mid-cervical cord injury level, ADL capacities differed only in the feeding and grooming activities. In lower cervical cord injury level, older patients showed lower rehabilitation outcome than younger counterparts in all ADL categories examined. CONCLUSION: Along with injury level, age should be considered when formulating rehabilitation plans and functional prognostic statements in tetraplegic patients.
Activities of Daily Living ; Adult ; Animals ; Bandages ; Baths ; Grooming ; Humans ; Quadriplegia ; Rehabilitation* ; Spinal Cord Injuries* ; Spinal Cord* ; Treatment Outcome*

BACKGROUNDS: To examine the effects of seizure laterality and stimulus type on Wada memory performance in patients with temporal lobe epilepsy(TLE). METHODS: The subjects were 43 patients with medically intractable TLE (left TLE 26, Right TLE 17) who had no or rare seizures after surgery. The memory stimuli were concrete figures for some subjects and abstract figures for the other subjects. RESULTS: A clinical criterion of at least 2-points difference between left and right injections correctly classified 31(72%) patients into left and right TLE groups, with 4(9%) patients falsely classified. A discriminant function analysis(DFA) based on left and right injection scores allowed for a correct classification of 37(86%) patients into left and right TLE groups. When the memory stimuli were concrete figures, the correct classification rate was greater for right than left TLE patients. In contrast, with abstract figures, the correct classification rate was greater for left than right TLE patients. CONCLUSIONS: The Wada memory test is a valuable diagnostic aid in lateralizing temporal epileptogenic foci. Stimulus type as well as seizure lateralization is a major determinant of Wada memory asymmetries.
Amobarbital* ; Classification ; Epilepsy, Temporal Lobe ; Humans ; Memory* ; Seizures ; Temporal Lobe*