No abstract available.
Gangwon-do* ; Orientia tsutsugamushi* ; Rickettsia*

Idiopathic hyperammonemia is a rare and serious complication of intensive cytoreductive chemotherapy for hematologic malignancies as well as after autologus or allogeneic bone marrow transplantation (BMT). A 42-year-old woman with Philadelphia chromosome positive acute lymphoblastic leukemia was undertaken unrelated BMT. Fourteen days later, the patient developed hallucination, mental confusion, lethargy, incoordination and stupor. Laboratory tests revealed normal serum aminotransferases. The serum ammonia level is moderately increased. Parenteral alimentation was discontinued to lower protein intake and treatment with lactulose, metronidazole, carnitine, and flumazenil was started. Also, hemodialysis was performed. Despite of these appropriate therapies, she died of idiopathic hyperammonenia at twenty-two days after allogeneic BMT.
Adult ; Ammonia ; Ataxia ; Bone Marrow Transplantation* ; Bone Marrow* ; Carnitine ; Drug Therapy ; Female ; Flumazenil ; Hallucinations ; Hematologic Neoplasms ; Humans ; Hyperammonemia* ; Lactulose ; Lethargy ; Metronidazole ; Philadelphia Chromosome ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Renal Dialysis ; Stupor ; Transaminases

BACKGROUND AND PURPOSE: Low-density lipoprotein (LDL) particle size is considered to be one of the more important cardiovascular risk factors, and small LDL particles are known to have atherogenic potential. The aim of this study was to determine whether LDL particle size is associated with stroke severity and functional outcome in patients with atherothrombotic stroke. METHODS: Between January 2009 and May 2011, 248 patients with first-episode cerebral infarction who were admitted to our hospital within 7 days after symptom onset were prospectively enrolled. LDL particle size was measured using the nondenaturing polyacrylamide gradient gel electrophoresis assay. Stroke severity was assessed by applying the National Institutes of Health Stroke Scale (NIHSS) at admission. Functional outcome was investigated at 3 months after the index stroke using the modified Rankin Scale (mRS), and poor functional outcome was defined as an mRS score of > or =3. RESULTS: The LDL particle size in the 248 patients was 25.9+/-0.9 nm (mean+/-SD). LDL particle size was inversely correlated with the degree of cerebral artery stenosis (p=0.010). Multinomial multivariate logistic analysis revealed that after adjustment for age, sex, and variables with p<0.1 in univariate analysis, LDL particle size was independently and inversely associated with stroke severity (NIHSS score > or =5; reference, NIHSS score 0-2; odds ratio=0.38, p=0.028) and poor functional outcome (odds ratio=0.44, p=0.038). CONCLUSIONS: The results of this study demonstrate that small LDL particles are independently correlated with stroke outcomes. LDL particle size is thus a potential biomarker for the prognosis of atherothrombotic stroke.
Atherosclerosis ; Cerebral Arteries ; Cerebral Infarction ; Constriction, Pathologic ; Electrophoresis ; Humans ; Lipoproteins ; National Institutes of Health (U.S.) ; Particle Size* ; Prognosis ; Prospective Studies ; Risk Factors ; Stroke*

Severe graft-versus-host disease (GVHD) is an often lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT). The safety of clinical-grade mesenchymal stem cells (MSCs) has been validated, but mixed results have been obtained due to heterogeneity of the MSCs. In this phase I study, the safety of bone marrow-derived homogeneous clonal MSCs (cMSCs) isolated by a new subfractionation culturing method was evaluated. cMSCs were produced in a GMP facility and intravenously administered to patients who had refractory GVHD to standard treatment resulting after allogeneic HSCT for hematologic malignancies. After administration of a single dose (1x10(6) cells/kg), 11 patients were evaluated for cMSC treatment safety and efficacy. During the trial, nine patients had 85 total adverse events and the rate of serious adverse events was 27.3% (3/11 patients). The only one adverse drug reaction related to cMSC administration was grade 2 myalgia in one patient. Treatment response was observed in four patients: one with acute GVHD (partial response) and three with chronic GVHD. The other chronic patients maintained stable disease during the observation period. This study demonstrates single cMSC infusion to have an acceptable safety profile and promising efficacy, suggesting that we can proceed with the next stage of the clinical trial.
Bone Marrow ; Drug-Related Side Effects and Adverse Reactions ; Graft vs Host Disease* ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Mesenchymal Stromal Cells* ; Myalgia ; Population Characteristics

MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as an acquired form of thrombocytopenia including immune thrombocytopenic purpura (ITP). This leads to delayed diagnosis or administration of ineffective treatment. In the present study, we investigated the clinical and molecular characteristics of five unrelated Korean patients with MYH9RD and their family members, from four institutions. We reviewed clinical and laboratory data including extra-hematological manifestations. MYH9 pathogenic variants were detected by direct sequencing in all probands and the affected family members (N=10): two probands with c.5521G>A (p.Glu1841Lys) and one proband each with c.99G>T (p.Trp33Cys), c.287C>T (p.Ser96Leu), and c.3493C>T (p.Arg1165Cys). All patients had macrothrombocytopenia. Only the proband with Ser96Leu had extra-hematological manifestations. Past history revealed that two patients had been misdiagnosed with ITP and one of them had received a splenectomy. We validated the frequency of misdiagnosis (~20%) and genotype-phenotype correlations through a comprehensive review of previously reported cases of MYH9RD in Korea. It is important to suspect MYH9RD in patients with thrombocytopenia, and timely identification of macrothrombocytopenia and MYH9 pathogenic variants is required for early and accurate diagnosis of MYH9RD.
Deafness ; Delayed Diagnosis ; Diagnosis ; Diagnostic Errors ; Genetic Association Studies ; Humans ; Inclusion Bodies ; Korea ; Leukocytes ; Purpura, Thrombocytopenic, Idiopathic ; Splenectomy ; Thrombocytopenia

Yolk sac tumors are rare malignant germ cell neoplasms that usually arise from the gonads. Extragonadal yolk sac tumors (EGYSTs) frequently occur in the mediastinum in post-pubertal females. EGYSTs in the pelvis are extremely rare, and to date, only thirteen cases have been reported in the English literature. Among them, the primary EGYST of the pelvic peritoneum in post-pubertal females has only been reported in ten cases. The present case describes a 26-year-old female diagnosed with primary peritoneal yolk sac tumor located in the rectouterine pouch. We report clinical and tumor imaging features, including ultrasound, computed tomography (CT), magnetic resonance images (MRI), positron emission tomography-computed tomography (PET-CT), and present a review of the literature.
Adult ; Douglas' Pouch ; Electrons ; Endodermal Sinus Tumor ; Female ; Gonads ; Humans ; Magnetic Resonance Imaging ; Mediastinum ; Neoplasms, Germ Cell and Embryonal ; Pelvis ; Peritoneum ; Ultrasonography ; Yolk Sac

Cyclosporine is an immunosuppressive agent that plays an important therapeutic role for organ transplantation. However, complications due to type 1 renal tubular acidosis, albeit rare, have been reported. We experienced a case of severe metabolic acidosis associated with cyclosporine administration after renal transplantation. A 54-year old man was hospitalized for seizure, confusion and weakness. He demonstrated severe metabolic acidosis and hypokalemia. Continuous renal replacement therapy was started and sodium bicarbonate was administered to correct the acidosis and the dosage of cyclosporine was reduced. Thereafter, the cyclosporine level in whole blood decreased gradually, and the metabolic acidosis improved.
Acidosis ; Acidosis, Renal Tubular ; Cyclosporine ; Hypokalemia ; Kidney ; Kidney Transplantation ; Organ Transplantation ; Renal Replacement Therapy ; Seizures ; Sodium Bicarbonate ; Transplants

PURPOSE: Hydrodynamic-based procedure is a simple and effective gene delivery method to lead a high gene expression in liver tissue. Non-invasive imaging reporter gene system has been used widely with herpes simplex virus type 1 thymidine kinase (HSV1-tk) and its various substrates. In the present study, we investigated to image the expression of HSV1-tk gene with 5-(2-iodovinyl)-2'-deoxyuridine (IVDU) in mouse liver by the hydrodynamicbased procedure. MATERIALS AND METHODS: HSV1-tk or enhanced green fluorescence protein (EGFP) encoded plasmid DNA was transferred into the mouse liver by hydrodynaminc injection. At 24 h post-injection, RT-PCR, biodistribution, fluorescence imaging, nuclear imaging and digital wholebody autoradiography (DWBA) were performed to confirm transferred gene expression. RESULTS: In RT-PCR assay using mRNA from the mouse liver, specific bands of HSV1-tk and EGFP gene were observed in HSV1-tk and EGFP expressing plasmid injected mouse, respectively. Higher uptake of radiolabeled IVDU was exhibited in liver of HSV1-tk gene transferred mouse by biodistribution study. In fluorescence imaging, the liver showed specific fluorescence signal in EGFP gene transferred mouse. Gamma-camera image and DWBA results showed that radiolabeled IVDU was accumulated in the liver of HSV1-tk gene transferred mouse. CONCLUSION: In this study, hydrodynamic-based procedure was effective in liver-specific gene delivery and it could be quantified with molecular imaging methods. Therefore, co-expression of HSV1-tk reporter gene and target gene by hydrodynamic-based procedure is expected to be a useful method for the evaluation of the target gene expression level with radiolabeled IVDU.
Animals ; Autoradiography ; DNA ; Fluorescence ; Gene Expression ; Genes, Reporter ; Herpes Simplex ; Herpesvirus 1, Human ; Idoxuridine ; Liver ; Methylmethacrylates ; Mice ; Molecular Imaging ; Optical Imaging ; Plasmids ; Polystyrenes ; RNA, Messenger ; Simplexvirus ; Thymidine Kinase