No abstract available.
Sotos Syndrome*

No abstract available.
Humans ; Hypothyroidism* ; Siblings*

No abstract available.
Spinal Muscular Atrophies of Childhood*

No abstract available.

PURPOSE: The purpose of this study is to compare treatment response and survival according to treatment modalities, such as allogeneic bone marrow transplantation (BMT), combined immunosuppression and supportive care, and according to etiologies in children with severe aplastic anemia. METHODS: Thirty-four patients who had severe aplastic anemia received either BMT, combined immunosuppression, or androgen treatment at Chonnam University Hospital from Jan. 1990 to Mar. 1998. The clinical characteristics and response according to treatment modalities or etiologies were studied retrospectively. RESULTS: 1) Patients in Group 1 received combined immunosuppression of ALG/ATG+methylprednisolone+/-cyclosporin (N=18); Group 2, BMT (N=11); Group 3, supportive treatment of oxymetholone+prednisolone+transfusion (N=5). Clinical characteristics were not different among three groups. 2) In Group 1, the response rate was 50% with complete response (CR) in 4 (22.2%) and partial response (PR) in 5 (27.8%). CR was attained in 91% (10/11) of Group 2 patients, while all 5 in Group 3 were died. Relapse was found in 1 out of 9 (11.1%) in Group 1. Three of 10 in Group 2 who had initial response experienced late graft failure. The Kaplan-Meier 4-year-survival in each group was 75.5%, 81.8% and 20%, respectively (P = 0.019). 3) Among 5 patients were Fanconi's anemia, two survived who underwent HLA- matched sibling transplants. Three patients with secondary aplastic anemia, including posthepatitis (N=2) and post-rubella responded to either BMT or immune suppression. Idiopathic cases (N=26) showed response rate of 43.8% to immunosuppression [CR, 3/16; PR 4/16], 85.7% to BMT, and 0% to supportive care. 4) The relative risk of death was 0.26 (P = 0.052) in Group 1, and 0.15 (P = 0.03) in Group 2 in comparison with Group 3. CONCLUSION: The study showed that BMT and combined immunosuppression resulted in better response and survival than supportive care in the management of childhood severe aplastic anemia. Although BMT seemed to be better than immunosuppression, effective measure to reduce late graft failure and graft versus host disease should be pursued.
Anemia, Aplastic* ; Bone Marrow Transplantation* ; Bone Marrow* ; Child ; Fanconi Anemia ; Graft vs Host Disease ; Humans ; Immunosuppression ; Jeollanam-do ; Recurrence ; Retrospective Studies ; Siblings ; Transplants

PURPOSE: To compare the levels of serum homocysteine, vitamin B12, vitamin B6 and folate in patients with normal-tension glaucoma, pseudoexfoliation glaucoma and high-tension glaucoma. METHODS: Thirty-two healthy subjects, 35 patients with normal-tension glaucoma, 22 patients with pseudoexfoliation glaucoma and 31 patients with high-tension glaucoma were included in the present study. Fasting venous samples were collected from all the participants. The levels of serum homocysteine, vitamin B12, vitamin B6 and folate were measured. One-way analysis of variance was used for the comparison of homocysteine, vitamin B12, vitamin B6 and folate levels among the 4 groups. RESULTS: The mean homocysteine levels in the pseudoexfoliation glaucoma and high-tension glaucoma group were 17.91 +/- 5.11 and 17.60 +/- 3.89 micromol/l, respectively, which were significantly higher than that of the control group (p = 0.014, p = 0.013, respectively). The mean vitamin B6 levels in the pseudoexfoliation glaucoma and high-tension glaucoma group were 17.67 +/- 14.32 and 17.00 +/- 10.58 nmol/l, respectively, which were significantly lower than that of the control group (p = 0.026, p = 0.008, respectively). CONCLUSIONS: Hyperhomocysteinemia may play a role as a risk factor in the development or progression of pseudoexfoliation glaucoma and high-tension glaucoma.
Fasting ; Folic Acid* ; Glaucoma* ; Homocysteine* ; Humans ; Hyperhomocysteinemia ; Risk Factors ; Vitamin B 12* ; Vitamin B 6*

Invasive mole is a malignant form of hydatidiform mole and can be seen occasionally. It invades the myometrium, adjacent structures and metastasizes distantly. It can initially appear with symptoms of the respiratory, genitourinary system, or rarely intraperitoneal hemorrhage. However, reports of invasive mole initially presenting symptom of brain metastasis is rare and is occasionally found at autopsy. We report a case of invasive mole which had metastasized to the brain and lung and initially presented with symptoms of brain metastasis.
Animals ; Autopsy ; Brain* ; Female ; Hemorrhage ; Hydatidiform Mole ; Hydatidiform Mole, Invasive* ; Lung ; Mice ; Myometrium ; Neoplasm Metastasis* ; Pregnancy ; Urogenital System

Intestinal hypogenesis is a rare cause of functional intestinal obstruction and shows both diminished numbers of ganglion cells and immature ganglion cells. We report a case of intestinal hypogenesis extending from the rectum to the proximal jejunum. A male newborn was noted to have a neonatal intestinal obstruction, and a laparotomy at 4 days of age proved the existence of intestinal hypogenesis. Histologic examination showed immature ganglion cells (cell body, 6.0+/-0.037 micrometer; nucleus, 4.1+/-0.028 micrometer; nucleoli, 0 micrometer in diameter) and hypoganglionosis. At 46 days of age, a reoperation was done, and the intestinal hypogenesis was proved to extend from the proximal jejunum to the rectum. Maturation of the ganglion cells in the small bowel (cell body, 9.3+/-0.28 micrometer; nucleus, 6.3+/-0.61 micrometer; nucleoli, 1.2+/-0.04 micrometer in diameter) was observed compared to initial study. However, the infant had persistent functional intestinal obstruction and was continued on parenteral nutrition with the hope of further maturation of the ganglion cells and improvement of the intestinal motility. Unfortunately, he was discharged against advise at 72 days of age and died. The maturation of the ganglion cells in this case suggests that this entity should not deemed hopeless.
Ganglion Cysts ; Gastrointestinal Motility ; Hirschsprung Disease ; Hope ; Humans ; Infant ; Infant, Newborn ; Intestinal Obstruction ; Jejunum ; Laparotomy ; Male ; Parenteral Nutrition ; Rectum ; Reoperation

BACKGROUND: Several methods have been used to evaluate the engraftment and to monitor residual disease after bone marrow transplantation (BMT). Among them, karyotyping have been useful in gauging engraftment following opposite sex BMT. More recently, fluorescence in situ hybridization (FISH) has also been applied to determine engraftment and residual status. In order to establish the utility of this method in clinical practice, we have evaluated the data from FISH and several methods. METHODS: We performed FISH using chromosome X alpha-satellite probe (Oncor , USA) on twenty eight peripheral blood and nine bone marrow nuclear cells from eleven patients who underwent sex mis-matched transplant and from a patient who had a loss of X chromosome. RESULTS: In nine patients with well engrafted BMT, signals of host cells showed less than 5% in all patients, evaluated 21-210 days post-transplant. Mixed chimerism was detected in six patients; transiently in early post-transplant period in four, in a patient with engraftment failure, and in a patient with relapse, respectively. CONCLUSION: FISH using X probe is a rapid, quantitative and sensitive 'interphase cytogenetic method' for the evaluation of engraftment and monitoring of residual disease following sex mis-matched BMT or BMT in a patient with a loss of X chromosome; It is especially useful in early post-transplant period when ony a few cells are available during severe cytopenia.
Bone Marrow Transplantation* ; Bone Marrow* ; Chimerism ; Cytogenetics ; Fluorescence* ; Humans ; In Situ Hybridization* ; Karyotyping ; Recurrence ; X Chromosome

The HELLP syndrome(hemolysis, elevated liver enzymes, and low platelets) is a complication of severe preeclampsia or eclampsia and associated with increased maternal and perinatal mortality. Exact pathogenic mechanism is still unclear but the microangiopathic hemolytic anemia combined with endothelial cell damage is suspected to be closely associated with disease process. Variable degree of disseminated intravascular coagulation(DIC) may be accompanied with the HELLP syndrome. We report a case of postpartum HELLP syndrome. She is 24 year-old woman. She showed definite evidence of microangiopathic hemolytic anemia, DIC, elevated liver enzymes and acute renal failure. Liver biopsy revealed fatty change with focal fibrin like material deposition in the portal tract area. She recovered completely with conservative treatment in 2 weeks.
Acute Kidney Injury* ; Anemia, Hemolytic ; Biopsy ; Dacarbazine ; Eclampsia ; Endothelial Cells ; Female ; Fibrin ; HELLP Syndrome* ; Humans ; Liver ; Perinatal Mortality ; Postpartum Period ; Pre-Eclampsia ; Pregnancy ; Young Adult