Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A hemoglobin vesicle (HbV; diameter 252 +/- 53 nm) or liposome-encapsulated Hb is an artificial oxygen carrier developed for use as a transfusion alternative, and its oxygen-transporting capacity has been well characterized, although critical physiological compartments for the Hb degradation after a massive infusion of HbV and the safety outcome remain unknown. In this study, we aimed to examine the compartments for its degradation by daily repeated infusions (DRI) of HbV, focusing on its influence on the reticuloendothelial system (RES). Male Wistar rats intravenously received the HbV suspension at 10 ml/kg/day for 14 consecutive days. The cumulative infusion volume (140 ml/kg) was equal to 2.5 times the whole blood volume (56 ml/kg). The animals tolerated the DRI well and survived, and body weights continuously increased. One day after DRI, hepatosplenomegaly occurred significantly through the accumulation of large amounts of HbV. Plasma clinical chemistry was overall normal, except for a transient elevation of lipid components derived from HbV. These symptoms subsided 14 days after DRI. Hemosiderin deposition and up-regulation of heme oxygenase-1 coincided in the liver and spleen but were not evident in the parenchyma of these organs. Furthermore, the plasma iron and bilirubin levels remained unchanged, suggesting that the heme-degrading capacity of the RES did not surpass the ability to eliminate bilirubin. In conclusion, phospholipid vesicles for the encapsulation of Hb would be beneficial for heme detoxification through their preferential delivery to the RES, a physiological compartment for degradation of senescent RBCs, even at doses greater than putative clinical doses.
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PMID:Physiological capacity of the reticuloendothelial system for the degradation of hemoglobin vesicles (artificial oxygen carriers) after massive intravenous doses by daily repeated infusions for 14 days. 1529 71

Hemobilia is a hemorrhage into the biliary tract that may follow surgical trauma, liver biopsy, aneurysms, extra- or intra-hepatic tumors of the biliary tract, gallstones, and inflammatory lesion of liver, especially helminthic or pyogenic. Sometimes, it is associated with primary liver cancer. An 84 year-old woman was admitted because of continuous right upper quadrant pain 4 days before admission. Physical examination revealed decreased skin turgor, icteric sclerae and severe tenderness on right upper quadrant abdomen. She had no hepatosplenomegaly, and no rebound tenderness. She has been taking warfarin for 3 weeks before admission because of atrial fibrillation. On admission, serum bilirubin and transaminase were elevated. The level of hemoglobin and hematocrit were 11.3 g/dL and 37.4%, respectively. HBsAg was negative, but IgG anti-HBc and anti-HBs were positive and anti-HCV was negative. Parasite skin test and stool ova count demonstrated non-specific findings. Stool occult blood was strongly positive, and prothrombin time was markedly prolonged. According to endoscopic retrograde cholangiopancreatography, common bile duct was dilated, and filled with blood clot but there was no stone in bile tree. After two weeks, serum transaminase, bilirubin, hemoglobin, hematocrit, and CA19-9 were normalized. We report a case of hemobilia, occurring in a patient with continuous warfarin use.
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PMID:[A case of non-traumatic hemobilia due to warfarin therapy]. 1556 10

Chronic Neutrophilic Leukemia (CNL) is a rare myeloproliferative disorder characterized by a persistent increase of mature peripheral neutrophils, myeloid hyperplasia in bone marrow, hepatosplenomegaly, elevated neutrophil alkaline phosphatase (NAP) and absence of Philadelphia chromosome, with no evidence of infection or malignancy sufficient to mimic a leukemoid reaction. CNL has been associated with multiple myelomas in many reported cases, but transition of Polycythemia Vera (PV) to CNL is very rare. An 81-year-old female patient, who had undergone intermittent phlebotomy following the diagnosis of PV 8 years previously, was admitted to our hospital due to lower back pain. A physical examination showed a splenomegaly 2 cm below the costal margin, with tenderness of the thoracic and lumbar spine area. A peripheral blood examination showed a WBC count of 91,800/microL (neutrophil 88%) with a rare immature form, hemoglobin of 9.1 g/dL and a platelet count of 1,661,000/microL. Her NAP score was 58. The bone marrow examination showed 95% cellularity, with an M:E ratio of 10:1, increased megakaryocytes with normal morphology and the absence of myelofibrosis. Chromosomal studies showed no Philadelphia chromosome. A radiological examination showed compression fractures of the vertebrae and spinal cord compression. No underlying disease causing a leukemoid reaction was detected. With iron replacement, the hemoglobin level failed to increase over 12 g/dL. Therefore, it was concluded to be a transition of PV to CNL. After administration of hydroxyurea and vertebroplasty, the symptom improved and the WBC count was sustained below 40,000/microL.
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PMID:A case of transition of polycythemia vera to chronic neutrophilic leukemia. 1568 21

A 56-year-old woman presented with rapidly enlarging thyroid mass and deep anemia. There was no history of gastrointestinal bleeding, and endoscopic examinations of the gastrointestinal system were normal. Fine needle aspiration cytology from the thyroid nodule was suspicious. After blood transfusion, total thyroidectomy was performed. Postoperative histopathological examination of the specimen revealed hemangiosarcoma of the thyroid. After establishment of the diagnosis chemotherapy was started. But hemoglobin values decreased again and hepatosplenomegaly developed at the second month of surgery. Bone marrow aspiration cytology which was performed demonstrated the same tumoral cells infiltrating bone marrow. The patient died at 12th week after surgery. Thyroid hemangiosarcoma can metastasize to the bone marrow and anemia may be an indicator of the advanced disease. In the differential diagnosis of the anemia, bone marrow metastasis and bone marrow biopsy should be considered in suspected cases.
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PMID:A case of hemangiosarcoma in thyroid with severe anemia due to bone marrow metastasis. 1575 58

Hemoglobin Hammersmith, a rare, unstable hemoglobin variant, was diagnosed in a 9-year-old Japanese girl. She presented with the typical manifestations of this disorder, including neonatal hyperbilirubinemia, followed by progressive hepatosplenomegaly, jaundice, and bilirubinuria. Because of severe hemolytic anemia, she received transfusions of red blood cells every 3 to 4 weeks. However, she underwent splenectomy at the age of 4 years and has continued to be in partial remission without requiring further transfusions. DNA sequence analysis of the polymerase chain reaction-amplified beta-globin gene revealed a point mutation (T --> C) in the second nucleotide of the 42nd codon of the beta-globin chain (beta 42(CD1) Phe --> Ser).
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PMID:Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl. 1661 20

A 71-year-old woman was admitted in December 2002 because of lymphadenopathy, hepatosplenomegaly and pleural effusion. She had severe anemia with hemoglobin 5.9 g/dl and a reticulocyte count of 1% per hundred. Direct/indirect Coombs tests and anti-double stranded DNA antibody were positive, her serum CH50 level was reduced and an increase in serum LDH isoenzyme 3 was observed. Bone marrow aspiration showed an almost total absence of erythroblasts and no pathological cell proliferation. The diagnosis of angioimmunoblastic T-cell lymphoma (AILT) was made based on the lymph node histological findings. Proliferation of arborizing small vessels with hyperplastic endothelium and infiltration of atypical T-lymphocytes were observed. After combination chemotherapy (THP-COP), remission was achieved in both the pure red cell aplasia (PRCA) and AILT. Remission was also accompanied by normalization of the Coombs tests, suggesting that autoimmune mechanisms in AILT may contribute to the development of PRCA.
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PMID:[Angioimmunoblastic T-cell lymphoma accompanied by pure red cell aplasia]. 1644 17

The clinico-hematological profile and treatment outcome of patients with autoimmune hemolytic anemia (AIHA) were assessed using a retrospective case record analysis. There were 79 (52 primary; 27 secondary) consecutive patients identified with a median age of 30.5 years. The main presenting complaints were pallor (94%), fever (46%), jaundice (51%), bleeding manifestations (10%) and splenomegaly (68%). Jaundice was much more common in primary (63%) as opposed to secondary (26%) disease. The direct antiglobulin test was negative in six patients. Oral prednisolone produced remission in 87.5% patients. Six patients (three children, three adults) relapsed after a median period of 2 months after response. All of these responded to a second course of steroids, in a median period of 14 days. No correlation was found between response and the parameters of age, sex, jaundice, low pretreatment hemoglobin, reticulocyte count, total leucocyte count (TLC), platelet count, subtype of AIHA and hepatosplenomegaly. Relapse correlated with increased duration between the onset of symptoms and treatment (r = 0.996; p = 0.0001).
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PMID:Autoimmune hemolytic anemia in India: clinico-hematological spectrum of 79 cases. 1652 55

Dosing of enzyme replacement therapy (ERT) for Gaucher disease type 1 is still a subject of debate and varies from 15 to 130 U/kg/mo, making a huge economic difference of 70,000 US dollars to 380,000 US dollars(euro55,000-300,000) per patient per year. To investigate whether this difference in dosing ultimately translates into a different response, we retrospectively compared long-term outcome of ERT at 2 large European treatment centers, Academic Medical Center, Amsterdam, The Netherlands (n = 49, median dose, 15-30 U/kg/4 wks) and Heinrich-Heine University, Duesseldorf, Germany (n = 57, median dose, 80 U/kg/4 wks). These adult cohorts had a similar genetic background. All follow-up parameters were matched separately at baseline, to avoid bias with respect to disease severity. Improvement in hemoglobin, platelet count, and hepatosplenomegaly was not significantly different between both cohorts, whereas plasma chitotriosidase and bone marrow involvement by magnetic resonance imaging improved more quickly and was more pronounced in the higher-dosed group. Major bone complications rarely occurred in both groups. In conclusion, different dosing regimens of ERT do not affect outcome of hematologic and visceral parameters, but higher dosing leads to accelerated decrease of chitotriosidase and better objective bone response in adult type 1 Gaucher disease.
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PMID:Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. 1686 38

Hb Southampton (also known as Hb Casper) is characterized by the substitution of a leucine residue for a proline at codon beta106 (CTG-->CCG). This mutation breaks the G helix and severely distorts the tertiary structure of the molecule, producing an unstable hemoglobin (Hb) and severe hemolysis. We identified this hemoglobinopathy in a young patient with severe hemolytic anemia and hepatosplenomegaly.
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PMID:Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy. 1684 Feb 33

We report on a Thai female patient who presented with hypochromic microcytic anemia, hepatosplenomegaly, and failure to thrive since 3 years of age. Hematological and hemoglobin (Hb) analysis were consistent with a clinical diagnosis of Hb H disease. However, no abnormal Hb fraction had ever been detected. During the 20 years of follow-up, this patient experienced several episodes of hemolytic crisis, which worsened her anemia, necessitating blood transfusion. Recently, we identified Hb Quong Sze (Hb QS), a highly unstable globin gene mutation affecting codon 125 (CTG-->CCG) of alpha(2) globin gene in trans with the commonest alpha(0) thalassemia (-(SEA)) in the patient. This report highlights the clinical significance of Hb QS in Southeast Asians, as previously almost all of the patients described with this variant were of Chinese origin.
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PMID:Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method. 1750 46


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