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

A 31-year-old man was admitted for investigation of proteinuria and hematuria. Physical examination on admission revealed systemic lymphoadenopathy, no hepatosplenomegaly, and ankle edema. Hemoglobin was 14.3 g/dl, platelet 21.4 x 10(4)/microliters and WBC 40,800/microliters which contained 86% mature lymphoid cells. Immunological phenotyping of peripheral lymphoid cells gave positive reactions for CD19, and CD20, and negative reaction for smlg. Urinary protein excretion was 8.3 g/dl in 24h. Serum total protein was 4.1 g/dl with albumin of 2.5 g/dl. Serum IgG was 302 mg/dl, IgA 43 mg/dl, and IgM 56 mg/dl. Renal biopsy showed characteristic features of membranoproliferative glomerulonephritis (MPGN). He was diagnosed as having nephrotic syndrome associated with B-cell chronic lymphocytic leukemia (B-CLL), and was treated with prednisolone and cyclophosphamide without effect. Therefore, he was treated with 18 MU of recombinant-alpha-2a-interferon (IFN-alpha)/day. This treatment resulted in almost normal WBC and differential counts, and urinary protein excretion of 3g in 24h 2 months later. After IFN-alpha treatment was discontinued, WBC count and the amount of urinary protein again increased. He was again treated with IFN-alpha at the dose of 9.0 MU/day three times a week, and is now well without any complaints. This is the first case report in which IFN-alpha was effective in a patient with nephrotic syndrome associated with B-CLL. We think that IFN-alpha therapy is worth trying in similar cases.
 ...
PMID:[Nephrotic syndrome associated with B-cell chronic lymphocytic leukemia successfully treated with interferon-alpha]. 207 29

Hemoglobin Hammersmith, a rare unstable hemoglobin, was diagnosed in a 4-year-old Chinese girl living in Los Angeles. She presented with the typical manifestations of this disorder, including neonatal hyperbilirubinemia, followed by increasing hepatosplenomegaly, jaundice, bilirubinuria, and a severe hemolytic anemia exacerbated by mild infections. The most prominent manifestations of the peripheral smear were polychromasia, normoblastemia, and basophilic stippling. The diagnosis was confirmed by several techniques.
 ...
PMID:Hemoglobin Hammersmith as the cause of severe hemolytic anemia in a Chinese girl. 371 15

Immunological studies were conducted on a case of granular lymphocytosis with benign clinical feature. A 60-year-old Japanese woman was found incidentally to have lymphocytosis when she had a common cold. A complete blood count showed 47,200 leukocyte per mm3 with 82% granular lymphocytes, 8% small lymphocytes and others. Hemoglobin was 11.5 g/dl and platelet count was 365 X 10(3)/mm3. Surface marker study revealed erythrocyte-rosettes 94%, Leu-1 59%, Leu-2a 70%, Leu-3a 14%, Leu-4 98%, Leu-7 57%, Leu-11 5%, HLA-DR 92%, BA-2 6%, common ALL antigen 4%, and surface immunoglobulin 2%. These results suggest granular lymphocyte proliferation with T-cell phenotype. Natural killer activity was 4.5%, but it was elevated to 11.4% after interleukin-2 stimulation by 2 days' culture. Human T-cell lymphotropic virus-I antibody was absent. No lymphadenopathy and no hepatosplenomegaly were seen, except for bone marrow infiltration of granular lymphocytes. The patient has been in good health without any acute distress. The leukocyte count has gradually decreased to 12,300/mm3 with 79% lymphocytes in 6 months of follow-up without any therapy. This case is suggestive of benign lymphocytosis, although similar cases have been reported previously as chronic lymphocytic leukemia with T-cell marker and/or natural killer function.
 ...
PMID:A case of granular lymphocyte proliferation with T-cell phenotype. 387 76

Out of 23 cases with a final diagnosis of idiopathic fever, 20 had self-limited fever with complete resolution. Comparing the cases of self-limited fever with other groups of patients with fever of unknown origin, the following differences were apparent: compared with tumoral and collagen diseases, self-limited fever occurred more frequently below age 40, the difference being significant (p less than 0.01). Chills occurred more frequently in self-limited fever than in tumoral and collagen diseases, while the incidence was similar in infectious diseases. Infectious, tumoral and collagen diseases presented with significantly greater weight loss (p less than 0.01) than self-limited fever. A greater incidence of hepatosplenomegaly was noted in self-limited fever than in infectious diseases. Hemoglobin and erythrocyte sedimentation rate (ESR) were significantly higher in self-limited fever than in the other illnesses. The NBT test was positive, with a reduction superior to 30% in the six cases in whom it was performed. In nine cases various invasive procedures were utilized: radiology, biopsy, laparoscopy (two cases), and laparotomy (one case). The data on the present series of self-limited idiopathic fever support an infectious origin of the disease because of the following: absence of an age difference with the group with a demonstrated infectious cause; fever of less than two months duration in most cases; presence of chills and less incidence of weight loss, anemia, and elevated ESR in relation to the other groups of fever of unknown origin; a positive NBT test; and spontaneous evolution to complete resolution of the disease.
 ...
PMID:[Self-limited idiopathic fever. A study of twenty cases (author's transl)]. 721 24

A 9-year-old girl was admitted to Mie University Hospital June 25, 1992, complaining of fever, skin rash and pallor. Physical examination revealed anemia and hepatosplenomegaly. Laboratory findings showed normocytic normochromic anemia, increased reticulocyte counts and remarkably decreased haptoglobin level. Red blood cells had no morphological abnormality. Bone marrow examination showed erythroid hyperplasia without abnormal cells. Hemoglobin electrophoresis showed an abnormal band. The amino acid structure and sequence of the abnormal hemoglobin was determined to be an unstable hemoglobin, Hb Buenos Aires [beta 85 (F1) Phe-->Ser]. Sequence of genomic DNA and cDNA was compatible to Hb Buenos Aires. Parvovirus B19 infection was thought to have caused severe anemia due to hemolytic crisis in this patient because its IgM antibody was positive on admission. She recovered soon without any treatment and has been followed in the outpatient clinic. Her parents and brother showed no hemoglobin abnormality.
 ...
PMID:[The first case in Japan of unstable hemoglobin, Hb Buenos Aires [beta 85 (F1) Phe-->Ser], with parvovirus B19 infection (first case in Japan)]. 858 69

Granulocytic sarcomas are extramedullary tumors (EMD) of malignant myeloid precursor cells. EMD or granulocytic sarcoma of ovary is rare disease. A 15-year-old girl had complaints of abdominal pain and weight loss for 3 months. On physical examination, there were hepatosplenomegaly and a painless mass under the umbilicus. Breast development was grade II. There was no clitoris hypertrophy. Her labia majora were separate and vagina hypoplastic. Hemoglobin level was 9.3 g/dl, white blood cells count 2.8 x 10(6)/1, platelet count 31.6 x 10(9)/1. There were dysplastic features in the blood and bone marrow cells. There were 10 and 22% blasts in the peripheral blood smear and bone marrow, respectively. The levels of serum follicle stimulating and luteinizing hormones were high. An inguinal mass (diameter 9.5 x 7.6) cm was detected on computed tomography. The histopathological diagnosis of this was obtained from laporascopy was composed of ovotestis and there was marked blastic infiltration in this ovotestis which had myeloid markers on flow cytometry. In the immunohistochemical analyses of ovotestis and bone marrow, blasts were positive for LCA, CD-13, CD-33 and CD 68. The cytogenetic analysis of the bone marrow shaved 46 XY karyotype. No response was achieved with combination chemotherapy and the patient died from progressive leukemia. Here we report a rare patient with myelodysplastic syndrome, EMD and hermaphroditism. To our knowledge this is the first case of MDS, EMD and hermaphroditism.
 ...
PMID:Granulocytic sarcoma of the ovotestis: an association of myelodysplastic syndrome and hermaphroditism. 1536 14

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).
 ...
PMID:Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl. 1661 20

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.
Hemoglobin 2006
PMID:Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy. 1684 Feb 33

We report two cases of compound heterozygote patients for the --(MED I) and Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] anomalies in two unrelated Greek Cypriot families. The first patient had a serious form of Hb H disease and died at the age of 21 due to complications arising during an operation. The second patient showed a severe hematological picture and has been regularly transfused since an early age. This patient exhibits bone abnormalities as well as hepatosplenomegaly. The severity of these two incidences emphasizes the need for the inclusion of a screening test for the --(MED I)/alpha(Agrinio)alpha genotype among those already offered during prenatal diagnosis. Two homozygotes, as well as a number of simple, compound, and double heterozygotes for Hb Agrinio have been identified in Cyprus and their hematological indices are presented.
Hemoglobin 2008
PMID:Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease. 1847 39

The Lepore hemoglobins (Hbs) are a group of structural defects resulting from different recombination events between the delta- and beta-globin genes. They may come with different beta-thalassemia (beta-thal) minor-like phenotypes in the carrier and with variably severe phenotypes in the rare homozygote, and in the common compound heterozygote with beta-thal. The most seriously affected patients are those of Yugoslavian origin presenting with severe transfusion-dependent hemolytic anemia, dyserythropoiesis, hepatosplenomegaly and skeletal malformations. Because of genetic risk, couples where both partners are carriers of these combinations may require prognosis and prenatal diagnosis. In these cases, recognition of the defect must be done with particular care. We report a case of Hb Lepore induced by a yet unknown crossover event found in a 24-year-old Turkish male and compare the novel mutation with those previously reported.
Hemoglobin 2008
PMID:Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype. 1893 69


1 2 3 Next >>