No abstract available.
Thanatophoric Dysplasia*

No abstract available.
Sturge-Weber Syndrome*

Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always present with progression of myotonic dystrophy, many patients with myotonia congenita never develop weakness. In the autosomal dominantly inherited form of congenital myotonia (Thomsen's disease), symptoms revolve around myotonia but weakness is not present. However, in the autosomal recessive (Becker's) type congenital myotonia, mild weakness and marked muscle hypertrophy is common. We report two cases of sporadic developing Becker's type congenital myotonia with electrophysiologic and muscle biopsy findings and review of literatures.
Biopsy ; Electric Stimulation ; Humans ; Hypertrophy ; Muscle, Skeletal ; Myotonia ; Myotonia Congenita* ; Myotonic Dystrophy ; Relaxation

BACKGROUND: Aseptic meningitis is a common illness of children. It seems that viruses are the usual etiologic agents. The distribution of these agents mainly depends on the isolated time and region area. This study was performed to isolate the causative viruses from patients with aseptic meningitis in Gwangju area during recent one year. METHODS:A total of 130 patients with aseptic meningitis were evaluated. Stool and/or cerebrospinal fluid specimens from patients were inoculated into rhabdomyosarcoma (RD), HEp2 and Vero cell lines. The virus propagation was examined by the presence of cytopathic effects. Neutralizing tests using enterovirus serum pool were done on each viral isolates. RESULTS: The isolation rate of enterovirus was 24.6% (32/130). The enterovirus isolates were obtained mostly from stool specimens (29/32). Twenty-two isolates were identified by neutralizing test. Ten isolates disclosed 'untyping' by neutralizing test. The distribution of isolates was coxsackievirus group B2 (11 stains, 34.4%), echovirus 30 (4 strains, 12.5%), echovirus 6 (3 strains, 9.4%), echovirus 9, 11, 25 and coxsackievirus group A16 (1 strain, respectively). These strains were predominantly isolated during summer season (June to July). CONCLUSIONS: The causative viruses from patients with aseptic meningitis in Gwangju area during recent 1 year were coxsackievirus group B2, echovirus 30, 6, 9, 11, 25 and coxsackievirus group A16 which were mostly isolated from stool specimens in summer season.
Cerebrospinal Fluid ; Child ; Coloring Agents ; Echovirus 6, Human ; Echovirus 9 ; Enterovirus ; Enterovirus B, Human ; Gwangju* ; Humans ; Meningitis, Aseptic* ; Rhabdomyosarcoma ; Seasons ; Vero Cells

No abstract available.
Progeria*

No abstract available.
Female ; Pregnancy ; Pregnancy, Ectopic*

DiGeorge syndrome, a developmental defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformation. This syndrome is usually associated with deletion of long arm in chromosome 22 (22q11-). We experienced a case of partial DiGeorge syndrome in a 2-month-old male who had hospitalized because of recurrent hypocalcemic tetany and tetralogy of Fallot. Immunologic studies revealed the decreased percentage of T lymphocyte and increased percentage of B lymphocyte. Chromosomal study with high resolution banding, showed 46, XY, 22q13 deletion. We report a case of partial Digeorge syndrome with a brief review of literatures.
Arm ; Chromosomes, Human, Pair 22 ; DiGeorge Syndrome* ; Humans ; Infant ; Lymphocytes ; Male ; Parathyroid Glands ; Tetany ; Tetralogy of Fallot ; Thymus Gland

In order to investigate of the effects of rapid rotating shift work on physiological stress, the activities of urinary Na+, K+, Cl- were measured in 14 rotational shift nurses, during day shifts(8AM-4PM, n=4), evening shifts(4PM-12MN, n=5), and night shifts(12MN-8AM, n=5) in hospital twenty students attending nursing college a used as control group. Urine specimens were collected in 30 minutes before and after work on the second day of shift work. In day shift nurses, Na+ activity was 137mM at 8AM and increased to 206mM at 4PM, whereas K+ activity was 42mM at 8AM and no significant change at 4PM. Cl- activity was changed from 234mM to 344mM at 4PM at 8AM. In the evening shift, Na+ activity was 117mM at 4PM and 140mM at 12MN, K+ activity was 22mM and 32mM, respectively. Cl- activity was 169mM and changed to 270mM. During the night shift, Na+ activity was 128mM at 12MN and changed to 161mM at 8AM, K+ activity was 42mM at 12MN and 8AM, and Cl- activity was from 303mM and changed to 355mM. In general, the urinary ion activities seemed to increase after work, however there were no significant changes in ion activities except the Na+ increase in day shift. The mean of the activities of K+ and Cl- before and after work during the day and night shift were significantly higher than those in control group(P<0.05). K+ activities were also higher than that of evening shift(P<0.05). However, there was no difference in Na+ activity among the control group and three shifts. There was a significant relationship among urinary Na+, Cl- and K+ in the control group and rotating shift nurses except between Na+ and K+ in shift. The relationship between Na+ and Cl- was low in shift work and there was no significant relationship between Na+ and K+ in shift, suggesting that the active regulation K+ and/or Na+ in response to stress upon the shift work disrupted the ratio of urinary Na+ to K+ and also lowered the relationship between K+ and Cl-. These results suggest that nurses working the day shift were overloaded and under stress, and the night shift interfered with the physiological rhythm of the nurses.
Humans ; Nursing ; Stress, Physiological

No abstract available.
Tuberous Sclerosis*

Despite a recent trend toward increased screening and public awareness for colorectal cancer, 30% of patients present with incurable disease. This study was designed to identify objective criteria that might help surgeons decide which patients with incurable colorectal cancer will benefit from palliative resection. Among 33 patients considered incurable colorectal cancer, twenty one patients underwent palliative resection and twelve patients had bypass surgery. Incidence of postoperative complication after palliative resection was 61.9%(13 cases), and after bypass surgery was 58.3%(7 cases). Among patients treated by palliative resection, one patient required reoperation for postoperative bleeding. The operative mortality after palliative resection was 19%(4 cases), and after bypass surgery was 25%(3 cases). The median survival was 11.4 months for patients treated by palliative resection, and was 9.7 months for patients treated by bypass surgery. These results show that palliative resection can be done safely and effectively in patients with incurable colorectal cancer. We believe this approach improved the quality of the remaining life in these patients.
Colorectal Neoplasms* ; Hemorrhage ; Humans ; Incidence ; Mass Screening ; Mortality ; Postoperative Complications ; Reoperation