Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

No abstract available.
Thumb*

PURPOSE: The purpose of this study was to describe the clinical outcome after pancreatcetmy and its relationship with pathological appearances and clinical features in patients with persistent hyperinsulinemic hypoglycemia of infancy(PHHI). METHODS: Medical records of 10 patients(9 males and 1 female, mean age:40.4+/-1.5 months) who were diagnosed as PHHI and underwent pancreatectomy from 1988 to 2000 were reviewed. Clincal and biochemical data were recorded. Subjects were classified arbitrarily into early-onset or late-onset group according to age of onset. Pathologic appearance of pancreas was divided into 2 forms:diffuse or focal. The former had a focal pancreatic adenomatous hyperplasia and the latter was characterized by increased number of betacells with similar distribution seen in normal neonates. RESULTS: One patient had focal, and nine had diffuse lesions. After near-total pancreatectomy, 4 patients(40.0%) showed complete response, 4(40.0%) had persistent hypoglycemia, and 2(20.0%) developed diabetes mellitus. As neurological sequelae, 6 patients(60.0%) had persistent seizures, and 6(60.0%) had delayed motor and speech development. No clinical or biochemical factors related to postoperative outcome were found. CONCLUSION: This data indicate that early diagnosis of patients who present with hypoglycemic symptoms in infancy, especially early in life, and development of more effective therapy are warranted, because there is no clinical or biochemical factor predicting final outcome after near-total pancreatectomy and only 40% of patients with PHHI remained euglycemic after surgery with possible severe neurological sequelae.
Age of Onset ; Congenital Hyperinsulinism* ; Diabetes Mellitus ; Early Diagnosis ; Female ; Humans ; Hyperplasia ; Hypoglycemia ; Infant, Newborn ; Male ; Medical Records ; Pancreas ; Pancreatectomy* ; Seizures

It has been well known that ischemia reperfusion injury to skeletal muscle following an acute arterial occlusion causes significant morbidity and mortality. There are many causes of reperfusion injury, but the oxygen free radicals have a significant role. During ischemia the ATP is catalyzed to hypoxanthine anaerobically and hypoxanthine dehydrogenase is converted to xanthine oxidase under the presence of O2 resulting in the production of cytotoxic oxygen free radical, which are harmful to muscle. The reactivity of superoxide dismutase(SOD), one of the major antioxidant enzymes, is increased against the formation of the superoxide radical during reperfusion. SOD metabolyzes the superoxide radical to H2 O2 and O2.The severity of ischemic damage deports on the duration of muscle ischemia. The reversible changes in the muscle occur afar 2 hours of ischemia and recover within 24 hours after reperfusion. After 6 hours ischemia, irreversible damage occurs and causes necrosis of muscle. The authors performed the resent study to investigate the changes of Mn-SOD and the effects of allopurinol, the inhibitor of xanthine oxidase, by measuring the immunoreactivitiy of the ischemic reperfused rectus femoris muscle of rats after 2 hours and 6 hours ischemia and timely reperfusion. A total of 176 healthy spraque-Dawley rats weighing from 200 gm to 250 gm were used. Under urthane(3.0 gm/kg.,IP) anesthesia, a lower-abdominal incision was made and the left common iliac artery was ligated by using a vascular clamp for 2 hours and 6 hours. Rectus femoris muscle was obtained at 0 hour, 1 hour, 2 hours, 24 hours, and 48 hours after removal of the vascular clamp. The specimens were sectioned in 14micro miter thickness with a cryostat. The immunoreactivities of Mn-SOD were observed by using Mn-SOD antibodies. The result were as follows. 1. The immunoreactivies of Mn-SOD around sarcolemma were stronger than those on the sarcoplasm. 2. The immunoreactivities of Mn-S0D after 2 hours of ischemia increased to moderate or weak reactivities at 1 hour and 2 hours of reperfusion and returned to week or trace reactivities at 24 hours and 48 hours of reperfusion 3. The pretreatment of allopurinol decreased the immunoreactivies of Mn-SOD during reperfusion. The pattern of changes of SOD immunoreactivies were similar, but the range of changes significantly decreased. 4. The immunoreactivies of Mn-SOD after 6 hours of ischemia increased after 6 hours of ischemia increased after reperfusion and showed peak at 2 hours and 24 hours specimen. After 48 hours in the reperfused group, the reactivities slightly decreased. 5. After 6 hours in the ischemia-reperfused group, the pretreatment of allopurinol decreased the immunoreactivies of Mn-SOD during reperfusion, but the effects were weak. These results suggest that the immunoreactivities of the 6 hours ischemia reperfused group were higher than those of 2-hours ischemia reperfused group in the rectus femoris muscle of rats and that allopurinol pretreatment can be credited with decreasing ischemia reperfusion injury within a reversible period.
Adenosine Triphosphate ; Allopurinol ; Anesthesia ; Animals ; Antibodies ; Free Radicals ; Hypoxanthine ; Iliac Artery ; Ischemia ; Mortality ; Muscle, Skeletal ; Necrosis ; Oxygen ; Quadriceps Muscle* ; Rats* ; Reperfusion Injury* ; Reperfusion* ; Sarcolemma ; Superoxide Dismutase* ; Superoxides ; Xanthine Oxidase

We report a case of central neurocytoma that was located in the frontal lobe with high proliferative index. A 49-year old man was admitted complaining of a generalized seizure. On magnetic resonance imaging, a mass was detected in the right frontal and the preoperative radiological impression was oligodendroglioma. Light and electron microscopic with immunohistochemical examination revealed features of central neurocytoma. Radiotherapy was added because of the aggressive features of this tumor(Ki-67 labeling index 10%). Although cerebral central neurocytoma with a high proliferative index is rare and the long-term results of this tumors have not been studied, our case and other cases in the literatures suggest the need for postoperative radiotherapy.
Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neurocytoma* ; Oligodendroglioma ; Radiotherapy ; Seizures

No abstract available.
Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa*

OBJECTIVE: It is known that mouse embryos before implantation develop in a low oxygen environment of 3- 8% concentration and with antioxidant materials such as vitamins, antioxidant enzymes, ferrous binding proteins, and albumin in follicular and tubal fluids. However, the 20% oxygen culture condition with chemically defined media might be produce an abundance of ROS, and leads to developmental delay or developmental block in vitro. In this study, we attempt to elucidate the relationship between intracellular H2O2 production and embryo development in different oxygen culture conditions of mouse embryos. METHODS: Prenuclear embryos from C57BL/CBA Fl hybrid and ICR mouse were cultured in incubators which provided 5% carbon dioxide, 20% oxygen and 5% carbon dioxide, 5% oxygen. Measurement of H2O2 level in a embryo was performed with DCHFDA(2, 7 -dichlorodihydroflourescein diacetate)and analyzed with Quanti-cell 700, and the number of blastomeres was counted with DAPI( 4, 6'-diamidino-2-phenylindole). RESULTS: Oxygen concentration of the culture medias was significantly higher in the 20% oxygen environment compared to that of 5% oxygen environment. Culture of mice embryos in high oxygen condition leads to high HO concentrations at 2 cell stage and developmental delay or ""2-cell block"" regardless of the strain. But in a 5% oxygen environment, which is similar to in-vivo conditions HO production was suppressed continuously through out culture and development of embryos was definitely improved. CONCLUSION: These results suggest that there is a difference in the production of ROS or protective mechanism according to the mouse strains and stage of development, and it is thought that in-vitro culture in 5% oxygen environment provides stable in vivo equilibrium but in a 20% oxygen environment there is production of ROS which overcome the protective mechanism which leads to cellular damage and embryo developmental delay.
Animals ; Blastomeres ; Carbon Dioxide ; Carrier Proteins ; Culture Media ; Embryonic Development ; Embryonic Structures* ; Female ; Incubators ; Mice* ; Mice, Inbred ICR ; Oxygen* ; Pregnancy ; Vitamins

No abstract available.
Humans*

TS-1 is an oral anti-cancer agent for gastric cancer with a high response rate and low toxicity. We report a case of long-term drug retention of TS-1 causing interstitial lung disease (ILD) as a fatal adverse reaction. A 65-year-old woman underwent a total gastrectomy with pathologic confirmation of gastric adenocarcinoma. She received 6 cycles of TS-1 and low-dose cisplatin for post-operative adjuvant chemotherapy followed by single-agent maintenance therapy with TS-1. After 8 months, the patient complained of a productive cough with sputum and mild dyspnea. A pulmonary evaluation revealed diffuse ILD in the lung fields, bilaterally. In spite of discontinuing chemotherapy and the administration of corticosteroids, the pulmonary symptoms did not improve, and the patient died of pulmonary failure. TS-1-induced ILD can be caused by long-term drug retention that alters the lung parenchyma irreversibly, the outcome of which can be life-threatening. Pulmonary evaluation for early detection of disease is recommended.
Adenocarcinoma ; Adrenal Cortex Hormones ; Aged ; Chemotherapy, Adjuvant ; Cisplatin ; Cough ; Dyspnea ; Early Diagnosis ; Female ; Gastrectomy ; Humans ; Lung ; Lung Diseases, Interstitial ; Retention (Psychology) ; Silicates ; Sputum ; Stomach Neoplasms ; Titanium

Metastasis of hepatocellular carcinoma (HCC) in the nasal septum is an extremely rare condition. The proper management and the role of surgical intervention are still controversial and there is no evidence-based guideline for this specific condition. The authors of the present study report a case of HCC with sinonasal metastasis, managed by surgery to relieve nasal obstruction and frequent epistaxis. Complete removal of the tumor via endoscopic surgery was performed and the pathology was reported to be consistent with metastatic HCC. No additional treatment modality was considered for the septal lesion. During the 8-month postoperative period, the patient remained alive and satisfied with comfortable nasal breathing. The present case report stresses the importance of interdisciplinary collaboration. Proper consultation between surgeon and oncologist may lead to improved quality of life, even when the patient is in the terminal stage of HCC.
Carcinoma, Hepatocellular ; Cooperative Behavior ; Epistaxis ; Humans ; Nasal Cavity ; Nasal Obstruction ; Nasal Septum ; Neoplasm Metastasis ; Postoperative Period ; Quality of Life ; Respiration