No abstract available.
Spinal Muscular Atrophies of Childhood*

PURPOSE: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. METHODS: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. RESULTS: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short follow-up duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. CONCLUSION: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.
Bone Marrow ; Christianity ; Chromosome Breakage ; Diabetes Mellitus, Type 1 ; Diagnosis ; Fanconi Anemia* ; Follow-Up Studies* ; Genotype ; Humans ; Jeollanam-do ; Korea ; Leukemia ; Medical Records ; Retrospective Studies ; Standard of Care ; Stem Cell Transplantation ; Treatment Outcome*

A Reversible Posterior Leukoencephalopathy Syndrome(RPLS) consists of neurologic symptoms and signs - headache, consciousness change, seizure, visual impairment - and brain imaging finding showing brain(espicially white matter) edema usually involving the posteior parietal-temporal-occipital areas. The causes are thought to be hypertensive encephalopathy, pre-eclampsia or eclampsia, renal failure with fluid overload and immunosuppressive agents such as cyclosporin A or FK506. RPLS may usually reversible if treated early by decreasing blood pressure and discontinuing offending drugs. A 23-year-old man had been hemodialyzed with chronic renal failure for two years. His blood pressure elevated to 240/150mmHg 3 days before admission and he complained of severe headache, vomiting, and total visual loss at the day of admission. Brain T2-weighted MRI imaging showed increased signal intensity involving the both parietal, posterior temporal, and occipital lobes. After antihypertensive and dexamethason treatment, a follow-up brain MRI performed on 7 days after admission showed nearly normalized findings and all symptoms including visual loss were recovered completely in one week.
Blindness ; Blood Pressure ; Brain ; Consciousness ; Cyclosporine ; Eclampsia ; Edema ; Female ; Follow-Up Studies ; Headache ; Humans ; Hypertensive Encephalopathy ; Immunosuppressive Agents ; Kidney Failure, Chronic* ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Neuroimaging ; Neurologic Manifestations ; Occipital Lobe ; Posterior Leukoencephalopathy Syndrome* ; Pre-Eclampsia ; Pregnancy ; Rabeprazole ; Renal Insufficiency ; Seizures ; Tacrolimus ; Vomiting ; Young Adult

Ovarian mucinous cystadenoma of borderline malignancy was consisted of intestinal mucinous cystadenomas of borderline malignancy and Mullerian mucinous papillary borderline tumors. Mullerian mucinous papillary tumors was lined by mucinous epithelium of endocervical type and characterized by papillae architecturally similar to those of serous borderline tumors. These tumors have clinical and pathologic differences from those of intestinal mucinous cystadenomas of borderline malignancy.We report a case of ovarian Mullerian mucinous papillary cystadenomas of borderline malignancy with review of literature.
Cystadenoma, Mucinous ; Cystadenoma, Papillary* ; Epithelium ; Female ; Mucins* ; Ovary

PURPOSE: Overactive bladder (OAB) causes urinary urgency, usually accompanied by frequency and nocturia. Alpha 1-adrenergic receptor (α1-AR) antagonists are known to improve lower urinary tract symptoms associated with OAB. The α1-AR antagonists constitute a variety of drugs according to the receptor subtype affinity. This study investigated the efficacy of tamsulosin, naftopidil, and a combination of the two on OAB rats. METHODS: The OAB rat model was induced by an intraperitoneal injection of cyclophosphamide for 14 days. The experimental groups were divided into 5 groups: control group, OAB-induction group, OAB-induction and tamsulosin monotherapy group, OAB-induction and naftopidil monotherapy group, and OAB-induction and tamsulosin-naftopidil combination therapy group. For the drug-treated groups, each drug was administrated for 14 days after the OAB induction. Cystometry for urodynamic evaluation and immunohistochemical stain for c-Fos and nerve growth factor (NGF) expressions in the central micturition centers were performed. RESULTS: Increased contraction pressure and time with enhanced c-Fos and NGF expressions in the central micturition centers were found in the OAB rats. Tamsulosin suppressed contraction pressure and time while inhibiting c-Fos and NGF expressions. Naftopidil showed no significant effect and combination therapy showed less of an effect on contraction pressure and time. Naftopidil and combination therapy exerted no significant effect on the c-Fos and NGF expressions. CONCLUSIONS: Tamsulosin showed the most prominent efficacy for the treatment of OAB compared to the naftopidil and combination. The combination of tamsulosin with naftopidil showed no synergistic effects on OAB; however, further studies of addon therapy might provide opportunities to find a new modality.
Animals ; Cyclophosphamide ; Injections, Intraperitoneal ; Lower Urinary Tract Symptoms ; Models, Animal ; Nerve Growth Factor ; Nocturia ; Rats* ; Urinary Bladder, Overactive* ; Urination ; Urodynamics

PURPOSE: Overactive bladder (OAB) causes urinary urgency, usually accompanied by frequency and nocturia. Alpha 1-adrenergic receptor (α1-AR) antagonists are known to improve lower urinary tract symptoms associated with OAB. The α1-AR antagonists constitute a variety of drugs according to the receptor subtype affinity. This study investigated the efficacy of tamsulosin, naftopidil, and a combination of the two on OAB rats. METHODS: The OAB rat model was induced by an intraperitoneal injection of cyclophosphamide for 14 days. The experimental groups were divided into 5 groups: control group, OAB-induction group, OAB-induction and tamsulosin monotherapy group, OAB-induction and naftopidil monotherapy group, and OAB-induction and tamsulosin-naftopidil combination therapy group. For the drug-treated groups, each drug was administrated for 14 days after the OAB induction. Cystometry for urodynamic evaluation and immunohistochemical stain for c-Fos and nerve growth factor (NGF) expressions in the central micturition centers were performed. RESULTS: Increased contraction pressure and time with enhanced c-Fos and NGF expressions in the central micturition centers were found in the OAB rats. Tamsulosin suppressed contraction pressure and time while inhibiting c-Fos and NGF expressions. Naftopidil showed no significant effect and combination therapy showed less of an effect on contraction pressure and time. Naftopidil and combination therapy exerted no significant effect on the c-Fos and NGF expressions. CONCLUSIONS: Tamsulosin showed the most prominent efficacy for the treatment of OAB compared to the naftopidil and combination. The combination of tamsulosin with naftopidil showed no synergistic effects on OAB; however, further studies of addon therapy might provide opportunities to find a new modality.
Animals ; Cyclophosphamide ; Injections, Intraperitoneal ; Lower Urinary Tract Symptoms ; Models, Animal ; Nerve Growth Factor ; Nocturia ; Rats* ; Urinary Bladder, Overactive* ; Urination ; Urodynamics

OBJECTIVE: The purpose of this study was to compare the National Diabetes Data Group (NDDG) with the American Diabetes Association (ADA) criteria proposed by Carpenter and Coustan for determining gestational diabetes using the 100 gm oral glucose tolerance test (GTT) in Korean women. METHODS: Seventeen-hundred pregnant women who underwent a 50 g oral GTT and delivered in the department of Ob/Gyn, Hanyang Univ Guri Hospital, between March, 1999 and February, 2004 were the subjects of this study. The women were categorized into A through D groups as follows: euglycemic control subjects (A), subjects with non gestational diabetes diagnosed by the NDDG and ADA criteria (B), subjects with gestational diabetes diagnosed by only the ADA criteria but not the NDDG criteria (C) and subjects with gestational diabetes diagnosed by only the NDDG criteria (D). The general characteristic and pregnancy outcomes were compared for each groups. The effectiveness of the ADA criteria was determinined by macrosomia and preeclampsia after controlling for confounding risk factors by logistic regression modeling. RESULTS: Of the 1700 pregnant women, 1420 women were classified in group A, 184 women were in group B, 28 women were in group C and 68 women were in group D. The group D showed more obese and less gestational weeks at delivery than the other groups. In pregnancy outcomes, groups B, C, and D showed more weighted average birth weight and higher frequency of macrosomia of the fetus than in group A. No differences existed among the 4 groups regarding intrauterine growth restriction, preeclampsia, and cesarean section. The risk factors of macrosomia were groups B, C, and D that shows glucose intolerance, obesity and more higher weight gain during pregnancy. Even after controlling for confounding risk factors by logistic regression modeling, groups B, C, and D were risk factors for macrosomia. Especially, the odds ratio for group C has shown a higher risk factor at 7.6 as compared to group D at 5.3. Glucose intolerance was not shown to be a risk factor of preeclampsia. CONCLUSION: Because glucose intolerance as shown in abnormal 50 g oral GTT is a risk factor for macrosomia and more weighted average birth weight of the fetus in Korean women, the diagnostic standards for Korean women are more suited to the ADA criteria compared to the NDDG criteria.
Birth Weight ; Cesarean Section ; Diabetes, Gestational* ; Female ; Fetus ; Glucose Intolerance ; Glucose Tolerance Test* ; Humans ; Logistic Models ; Obesity ; Odds Ratio ; Pre-Eclampsia ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Risk Factors ; Weight Gain

Arterioportal (AP) shunt is related to hepatocellular carcinoma (HCC) with variable frequency but its clinical significance is not well known. We retrospectively studied the prevalence and clinical significance including mortality of the AP shunt combined with HCC. METHODS: The clinical data and radiologic features of HCC patients who were performed hepatic angiography from 1992 to 1997 at St. Mary's Hospital in Korea were reviewed. The data of HCC patients with AP shunt were compared with that of randomized samples of HCC patients without AP shunt. RESULTS: The prevalence of AP shunt in HCC was 7.3%(45/616 HCC patients). There was no significant difference in clinical symptoms and signs such as ascites, encephalopathy, or variceal bleeding and laboratory findings between the HCC patients with AP shunt and those without. The AP shunt was more common in diffuse, poorly demarcated, large HCC. Especially, portal vein thrombosis (PVT) was one of the most common causes of AP shunt. Cumulative survival rate of the HCC patients with AP shunt was lower than that of those without. But only the size of HCC was significantly related with poor prognosis. CONCLUSION: AP shunt occurred in some HCC which was large in size or combined with PVT. AP shunt did not increase the severity of symptoms and signs, but decreased the survival because of its relation to tumor size.
Angiography ; Ascites ; Carcinoma, Hepatocellular* ; Esophageal and Gastric Varices ; Humans ; Korea ; Mortality ; Prevalence ; Prognosis ; Retrospective Studies ; Survival Rate ; Venous Thrombosis

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is one of the most important armamentarium against various hematologic malignancies or some solid tumors. We investigated the number of patients who might need transplants and compared with that of actual transplants to conceptualize current status and circumstances of HSCTs in Korean children. METHODS: Questionnaires were sent to Korean Society of Hematopoietic Stem Cell Transplantation (KSHSCT) members who were taking care of children with malignancies or hematologic diseases. Almost all of the newly diagnosed patients between Jan, 1st and Dec, 31st, 2003 were enrolled in the study. RESULTS: Seven hundred forty eight children (male to female ratio = 1.4:1) were enrolled. The median age was 6.1 years old (8 days~28.8 years old). Malignant diseases consisted of 695 cases (92.9%), and among them almost half were hematologic malignancies. The participating members speculated that HSCTs should be indicated in 285 children (38.1%) which included 209 allogeneic, and 76 autologous transplants. In reality, however, allogeneic HSCTs were performed only in 140 children (67.0%) with the median interval of 5.9 month, and autologous transplants in 44 children (57.9%) with 8.3 month. In autologous setting, all the patients received peripheral blood stem cells (PBSCs), whereas bone marrow (61%), cord blood (34%), and PBSC (5%) were used in allogeneic HSCTs. Donor types were as follows: unrelated donor (37%), cord blood (34%), sibling donor (25%), and family (4%). The reasons for not performing HSCTs were unfavorable disease status or death, no availability of suitable donor, economical situation, and refusal by parental preferences. Under the strict insurance regulations, many transplants were not covered by insurance. More autologous transplants were performed without insurance coverage than allogeneic HSCTs (P=0.013). Those cases were advanced cases and HLA mismatch transplants for allogeneic setting, and relatively rare diseases still awaiting favorable results of transplants for autologous setting. CONCLUSION: HSCTs are essential part of treatment strategies for children with various diseases. Unfortunately, however, a third of patients who were in need of transplants did not receive HSCTs due to various reasons. It is necessary to expand unrelated donor pool or cord blood banks for the cases lacking HLA-identical sibling donors. Also medical insurances should cover HSCTs for rare diseases as well as for less favorable but novel situations where there are no suitable alternatives.
Autografts ; Bone Marrow ; Child* ; Disulfiram ; Female ; Fetal Blood ; Hematologic Diseases ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Insurance ; Insurance Coverage ; Parents ; Rare Diseases ; Siblings ; Social Control, Formal ; Stem Cells ; Tissue Donors ; Unrelated Donors ; Surveys and Questionnaires

PURPOSE: Malignant lymphoma is the primary malignant tumor derived from lymphoid organs. It is composed of Hodgkin's disease and non-Hodgkin lymphoma. Recently, survival rate is on the rise due to improved combination chemotherapy, radiotherapy and high dose chemotherapy followed by hematopoietic stem cell transplantation. In South Korea, no epidemiologic studies concerning malignant lymphoma in the pediatric age group has been performed. Therefore, the Korean Society of Pediatric Hematology-Oncology retrospectively analyzed the incidence, pathologic subtypes, treatment strategies, and survival rates of pediatric malignant lymphomas in South Korea. METHOD: Questionnaires were made and sent to a group of training hospitals, with a return of 580 questionnaires from 24 hospitals. Among them, 517 reports were suitable for analysis. RESULTS: Among the 517 cases, Hodgkin's disease accounted for 58 cases and non-Hodgkin's lymphoma for 459 cases. Male to female ratio for malignant lymphoma was 2.7. Mean age at diagnosis was 8.3 years. Among the pathologic subtypes, mixed cellularity was the most frequent subtype for Hodgkin's disease. Most (70.7%) cases of non-Hodgkins lymphoma belonged to high grade NHL. Burkitt lymphoma accounted for 102 cases, and lymphoblastic lymphoma was found in 58 cases. Peripheral lymphadenopathy was the most common presenting sign upon diagnosis. B symptoms were significantly more frequent in Hodgkin's disease patients than in non-Hodgkin lymphoma patients. The Complete response rate was 62.1% for non-Hodgkin's lymphoma, and 82.8% for Hodgkin's disease. Overall 5 year survival rate was 60.0% in non-hodgkin's lymphoma, and 84.8% in Hodgkin's disease. CONCLUSION: The annual incidence of malignant lymphoma in Korea is 4.7 per million. In cases of chemotherapy-sensitive, refractory or relapsed malinant lymphoma, high dose chemotherapy followed by hematopoietic stem cell transplantation is vital for improved survival. For more systematic analysis of epidemiology on malignant lymphomas, better surveillance mechanisms on the occurrence of malignant lymphomas are crucial, and establishment of standardized treatment protocol for malignant lymphoma is required.
Burkitt Lymphoma ; Child* ; Clinical Protocols ; Diagnosis ; Drug Therapy ; Drug Therapy, Combination ; Epidemiologic Studies ; Epidemiology* ; Female ; Hematopoietic Stem Cell Transplantation ; Hodgkin Disease ; Humans ; Incidence ; Korea* ; Lymphatic Diseases ; Lymphoma* ; Lymphoma, Non-Hodgkin ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Surveys and Questionnaires ; Radiotherapy ; Retrospective Studies* ; Survival Rate