Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Radionuclide inferior vena cavagrams were done in 135 patients who had hepatomegaly, splenomegaly or a mass in the vicinity of the inferior vena cava (I.V.C.). 2-5mCi 66mTc phytate, 99mTc S colloid, 99mTc O4-, 99mTc-LIDA, 99mTc pyridoxyledene glutamate or 113mIn colloid were injected directly and rapidly into either a malleolar or a femoral vein while the patient lay supine under the 13.5'' detector head of a scinticamera. Rapid sequential scintiphotos were manually taken at approximately 1 sec. interval for 20-30 sec. Thus iliac vein, I.V.C., cardiopulmonary zone in infants, aorta and the arterial phase were visualized. 48% of these subjects had an abnormal I.V.C. and the depictions were interestingly varied, indicating that different patients responded in a different manner even to grossly similar pathologies. It became evident that this soft walled vessel could be compressed by both fluids and neoplastic tissue (Fig. 1, 2); the long I.V.C. channel could also be segmentally pushed away by a mass in its vicinity. (Fig. 2, 3, 4). An abnormal arterial flush usually differentiated between benign (Fig. 2) and malignant (Fig. 3) lesions, even when the mass was extra-hepatic (Fig. 4) and retiroperitoneal (Fig. 5). Such a systematic study of I.V.C. had not been possible earlier since the classical x-ray contrast inferior vena cavagram necessitates venous dissection, passage of a catheter, and the injection of large volume of fluid under an unphysiologically high pressure. The simplified radionuclide technique, however, permitted the study of neonates and critically ill subjects with massive ascites, while retaining a satisfactory reproducability.
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PMID:Frequency of inferior vena caval abnormalcy due to a juxtaposed pathology. 14 54

KLF1 is an erythroid specific transcription factor that is involved in erythroid lineage commitment, globin switching and terminal red blood cell maturation. Various mutations of KLF1 have been identified in humans, which have led to both benign and pathological phenotypes. The E325K mutation, within the second zinc finger of the KLF1 gene, has been shown to cause a new form of congenital dyserythropoietic anemia (CDA) now labeled as CDA type IV. We report the fourth documented case of this mutation, and propose a clinical diagnostic model to better identify this disease in other patients. Our patient is a Taiwanese child who presented to us at 8years of age with severe hemolytic anemia, splenomegaly, elevated fetal hemoglobin (HbF), iron overload, and dyserythropoiesis in the bone marrow. KLF1 sequence analysis revealed a G-to-A transition in one allele of exon 3, which resulted in the substitution of a glutamate 325 by a lysine. Flow cytometry analysis revealed decreased protein expression of CD44 on the red blood cells, and decreased red blood cell deformability as measured using an ektacytometer. Blood typing revealed his red blood cells to be Co(a-b-), In(b-), LW(ab-) and Lu(b+), even though DNA testing predicted that he would be Co(a+b-) and LW(a+b-). This newly discovered CDA combines features of a hemoglobinopathy, RBC membrane defect and hereditary persistence of HbF (HPFH) which are not seen in the previous types of CDA. Increased awareness of this phenotype may improve the more prompt and accurate diagnosis of these patients.
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PMID:Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. 2352 91

A significant fraction of global population is under the threat of malaria. Majority of annual death is due to the more complicated form of the infection i.e. the cerebral form, also known as Cerebral Malaria (CM). Host parasite interaction is known to cause a cascade of events in various tissues like brain, liver, kidney, and spleen. We have employed (1)H NMR based metabolomics to understand the specific perturbations of various tissues in CM. In our previous paper we have delineated the differences between CM vis-a-vis non-cerebral malaria (NCM) mice in serum, liver and brain. In this paper we focus on their differences of metabolic profile in kidney and spleen as kidney dysfunction and splenomegaly are known to be associated to neurological outcome of the disease. Moreover we have also looked into how the biological compartments (kidney, spleen and serum) interact with each other. The various metabolites involved in such interactions and their correlational aspects across the compartments have been studied in CM, NCM and control mice. The idea was to find out the specific pathways that are altered in CM mice. Our results demonstrate that both the kidney as well as spleen metabolism are differentially perturbed in CM with respect to NCM. The results point out that glutamate levels are decreased in CM mice with respect to NCM mice both in case of spleen and kidney while creatine, myo-inositol and betaine levels are increased in kidney of CM mice with respect to NCM mice. From the analysis of Multiway Principal Component Analysis (MPCA) we see that lipid metabolism and TCA cycle is altered in kidney and spleen.
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PMID:Metabolic perturbations of kidney and spleen in murine cerebral malaria: (1)H NMR-based metabolomic study. 2403 68