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

Carcinomatous meningitis is a relatively common late complication of systemic cancer but there is difficulty in diagnosis when there is no clinical evidence of primary malignant lesion. We have experienced a patient who entered our hospital with complaints of headache, vomiting and deteriorated consciousness. On neurological examination, both optic fundi showed hemorrhagic papilledema and central type facial palsy was observed on the right side. All routine laboratory and radiological examination revealed no abnormality except suspiciously dilated ventricles on Conray ventriculogram. She had been treated under the impression of pseudotumor cerebri. She went downhill course and expired on the 18 th. Hospital day. Autopsy was performed. Pathological findings were limited to the central nervous system. The brain was diffusely swollen and weighed 1510 gms. The cerebral hemispheres were cloudy throughout with dusky gray appearance. Sulci were tight and gyri became flat. No evidence of herniation was present. Coronal sections disclosed two foci of yellow and granular lesions in the left parieto-occipital cortex just under the menengeal coverings. These lesions were less than 0.5 cm in maximum dimensions. Microscopically almost entire cerebral, cerebellar and spinal cord leptomeninges were infiltrated by neoplastic cells that often formed glandular structures. These tumorous growths in the meninges were continuous with the subjacent tumor masses found in the cortex. No other foci of tumor were seen in the CNS. The ventricular system was mild to moderately dilated with slightly cloudy surface. Microscopically no tumor was seen along the ependyma. Search for the primary site of meningeal carcinomatosis included multiple sections of entire visceral organs with particular emphasis on the lung. There was a focus of metastatic papillary carcinoma in one of the left hilar lymph node. Meticulous gross dissection and multiple sections of the lungs, however, failed to show any tumor.
Autopsy ; Brain ; Carcinoma, Papillary ; Central Nervous System ; Cerebrum ; Consciousness ; Diagnosis ; Ependyma ; Facial Paralysis ; Headache ; Humans ; Lung ; Lymph Nodes ; Meningeal Carcinomatosis* ; Meninges ; Neurologic Examination ; Papilledema ; Pseudotumor Cerebri ; Spinal Cord ; Vomiting

BACKGROUND: The effective treatment of hematologic malignancies depends upon application of different therapeutic strategies by selecting patients known as the high risk group and the detection of malignant cells that can not be distinguished during following-up. We compared the results of G-banding and fluorescence in situ hybridization (FISH), which are used most frequently in detecting genetic changes, with the respect to investigating the discrepancies between these methods. METHODS: G-banding and FISH were performed on 919 consecutive specimens from 304 patients with hematologic malignancies. As for FISH, we covered most of the more frequent gene-tic changes, using 18 types of FISH probe. RESULTS: The average discrepancy between G-banding and FISH was 8.6% with a discrepancy at initial diagnosis of 6.0% and at follow-up of 11.9%, indicating greater discrepancy at follow-up after treatment. The chromosomal changes with especially large discrepancies were TEL/AML1, BCR/ABL & del(5q) (22.4%, 18.1%, and 16.2%, respectively). According to each disease, the discrepancies in acute biphenotypic leukemia (33.3%), acute lymphoblastic leukemia (14.7%), and chronic myelogenous leukemia (9.6%) were larger than average discrepancy. CONCLUSTIONS: We concluded that application of FISH is effective for detecting genetic changes in hematologic malignancies. Once genetic changes are detected, follow-up with FISH would be especially effective for making an accurate assessment of the likelihood of complete remission and recurrence.
Diagnosis ; Fluorescence ; Follow-Up Studies ; Hematologic Neoplasms ; Humans ; In Situ Hybridization ; Leukemia, Biphenotypic, Acute ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Recurrence

Although tuberculomas of the brain and the spinal cord were recorded in many case reports, that of the peripheral nerve was extremely rare and only two cases were reported in the literature(in India). These reported tuberculomas were found in the ulnar nerve, that were treated by operative removal and postoperative antituberculous chemotherapy. We have recently experienced a case of tuberculoma of the ulnar nerve that was operatively removed to be confirmed by microscopic examination. We report this case with brief review of the articles.
Brain ; Drug Therapy ; Peripheral Nerves ; Spinal Cord ; Tuberculoma* ; Ulnar Nerve*

A 62-year-old man was transferred to our emergency room because of acute encephalopathy. He was a nondrinker with history of a gastrectomy nineteen years ago. Two weeks before his visit, he had experienced transient poor oral intake due to gastroesophageal reflux (GER). His brain MRI showed definite lesions compatible with Wernicke Encephalopathy (WE). A trivial event like GER can complicate the marginal equilibrium of thiamine and, after a long latent interval following a gastrectomy, may induce delayed-onset WE.
Brain ; Emergencies ; Gastrectomy ; Gastroesophageal Reflux ; Humans ; Middle Aged ; Thiamine ; Wernicke Encephalopathy

In this study, we aimed to investigate the neuroprotective effects of caffeic acid phenethyl ester (CAPE), an active component of propolis purified from honeybee hives, on photothrombotic cortical ischemic injury in mice. Permanent focal ischemia was achieved in the medial frontal and somatosensory cortices of anesthetized male C57BL/6 mice by irradiation of the skull with cold light laser in combination with systemic administration of rose bengal. The animals were treated with CAPE (0.5–5 mg/kg, i.p.) twice 1 and 6 h after ischemic insult. CAPE significantly reduced the infarct size as well as the expression of tumor necrosis factor-α, hypoxiainducible factor-1α, monocyte chemoattractant protein-1, interleukin-1α, and indoleamine 2,3-dioxygenase in the cerebral cortex ipsilateral to the photothrombosis. Moreover, it induced an increase in heme oxygenase-1 immunoreactivity and interleukin-10 expression. These results suggest that CAPE exerts a remarkable neuroprotective effect on ischemic brain injury via its anti-inflammatory properties, thereby providing a benefit to the therapy of cerebral infarction.
Animals ; Brain Injuries ; Brain Ischemia ; Cerebral Cortex ; Cerebral Infarction ; Chemokine CCL2 ; Heme Oxygenase-1 ; Humans ; Indoleamine-Pyrrole 2,3,-Dioxygenase ; Interleukin-10 ; Ischemia ; Male ; Mice* ; Necrosis ; Neuroprotective Agents ; Propolis ; Rose Bengal ; Skull ; Urticaria

BACKGROUND: Intravenous injection of mesenchymal and hematopoietic stem cells (MSCs, HSCs) has the disadvantages of low delivery rate to bone marrow and sequestration of cells in the lung and liver. This study was designed to determine whether there is a relationship between the administration route and dosage of stem cells and GVHD and survival. METHODS: MSCs were retrieved from five subcultured C3H/10T1/2, cell lines from C3H/He mice. HSCs were transplanted by injecting 1 x 10(7) of bone marrow mononuclear cells and 5 x 10(6) of spleen cells from six to eight week old female C3H/He mice into six week old irradiated female BALB/c mice. The groups were divided into intravenous injection (IV) and intra-marrow (IM) injection groups. IV and IM+MSC groups consisted of mice transplanted with the same bone marrow mononuclear cells and SP, IV and IM groups, with the additional co-injection of 1 x 10(6) MSCs. RESULTS: Evaluation of all mice, in both groups, showed no difference in GVHD and survival. However, high dose injection with 1 x 10(6) MSCs led to a decreased incidence of GVHD (P<0.05) and improved survival (P<0.01) in both groups. CONCLUSION: The results of this study showed that the positive effects of MSC on GVHD and survival were primarily dependent on the number of injected cells.
Animals ; Bone Marrow ; Cell Line ; Female ; Graft vs Host Disease* ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Incidence ; Injections, Intravenous ; Liver ; Lung ; Mesenchymal Stromal Cells* ; Mice ; Spleen ; Stem Cells ; Transplants*

PURPOSE: Valproic acid (VPA) has been used as an anticonvulsant for a long time. Recently, there are many reports on VPA activity with regards to intracellular signal transduction, including differentiation, proliferation, and apoptosis. We experienced several hematologic toxicities during the long-term use of VPA. Therefore, we investigated whether VPA has effects on short-term or long-term hematopoiesis with respect to differing concentrations. METHODS: We obtained bone marrow mononuclear cells (BMMNC) from a 5 week old female C3H/He strain mouse. The BMMNC were cultured in semi-solid media mixed with VPA according to the concentrations of colony forming unit for granulocyte-monocytes (CFU-GM). The concentrations of VPA were used as follows: 0.01 mM, 0.1 mM, 1 mM, and 10 mM (therapeutic level: 0.07~1.1 mM). We performed long-term liquid culture under VPA to compare the frequency of long-term culture initiating cells (LTC-IC) according to various VPA levels. RESULTS: The number of CFU-GM was highest with 1 mM of VPA (45.2+/-13.5), with higher therapeutic level than control (25.7+/-11.9), in 0.01 mM of VPA (26.5+/-12.1) and in 0.1 mM of VPA (26.6+/-12.2). In 10 mM of VPA, a toxic level of VPA, was the lowest at 1.6+/-1.1 (P< 0.01). In long-term culture, the frequency of LTC-IC was increased in 0.1 mM of VPA (67.7+/-16.3%), lower therapeutic level than in control (5.5+/-10.6%). In 1 mM of VPA, the high therapeutic level decreased to 81.6+/-9.3%. With toxic levels of VPA, 10 mM, there was no hematopoiesis. CONCLUSION: The VPA might enhance short-term hematopoiesis at high therapeutic levels, while preserving LTC-IC in long-term hematopoiesis under low therapeutic concentrations. Therefore, we suggest that VPA to be used within a low therapeutic level to escape from hematopoietic suppression when using VPA as long-term medication for seizure control.
Animals ; Apoptosis ; Bone Marrow ; Female ; Granulocyte-Macrophage Progenitor Cells ; Hematopoiesis ; Humans ; Mice* ; Seizures ; Signal Transduction ; Stem Cells ; United Nations ; Valproic Acid*

In vivo 31P NMR spectra were obtained in eight infant brain at 4.7T. Each phosphorus metabolite and its ratio were analyzed to evaluate the brain damage and maturity, and compared with the reported data obtained at the lower field strength. Measurement of T1 relaxation time at 4.7T was done in an infant and a cat brain in vivo. PCr/Pi and PCr/β-ATP ratio were used as a marker of brain damage. PME/PDE revealed higher values than those of the reported data obtained at the lower field strength and the difference was partly attributed to the long T1 relaxation time of PME rather than the brain immaturity. Although the resolution of the spectrum was improved at 4.7T, a long repetition time is recommended to minimize T1difference of phosphorus metabolites of brain at 4.7T.
Animals ; Brain* ; Cats ; Humans ; Infant ; Magnetic Resonance Spectroscopy* ; Phosphorus ; Relaxation

Neuronal migration disorders (NMD's) are a rare group of developmental structural lesions characterized by disorganization of cortical architecture with aberrant columnar and laminar arrangement, often causing intractable seizures. During September 1994 to February 1995, we operated on six patients with NMD to treat intractable seizures, Male female ratio of these 6 patients was 2:4 and mean age at seizure onset was 14 years old(range 6-28 years), indicating early onset of epilepsy. Mean age at seizure surgery was 29 years old(range 23-41 years), and mean follow-up duration after operation was 4 months(range 3-6 months). In their past medical history, three patients had experienced febrile seizure at pediatric age, and one of them had a history of anoxic damage during delivery. Following preoperative localization, the lesion was removed completely in five patients. In the other one patient part of the lesion was located the speech and motor area, leading to partial removal. On histologic examination, two of them showed cortical dysplasia and the other four revealed microdysgenesis. During follow-up for six months, five patients were free of seizure and in the other one patient, whose lesion was removed incompletely, the frequency of seizure decreased by 95%.
Epilepsy* ; Female ; Follow-Up Studies ; Humans ; Male ; Malformations of Cortical Development ; Neuronal Migration Disorders* ; Neurons* ; Seizures ; Seizures, Febrile