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)

We analysed cases of hematologically proved cases of Plasmodium falciparum malaria encountered from July 1984 to Dec 1985 in a military hospital. The age range was 3 days to 10 years. Majority presented with classical symptom of fever (92.7%). Others presented with gastrointestinal (7.3%), hepatic (4.5%), central nervous system (7.3%) and respiratory (3.6%) symptoms. Anemia was found in 36.4%. Hepatosplenomegaly was present in majority of the cases. The rare findings were polyarthritis, rash, urticaria and cerebellar features. All cases responded to chloroquine or quinine. No resistance to drugs was found and there was no mortality.
 ...
PMID:Falciparum malaria. 268 Sep 41

An unusual case of an aggressive leukemia of natural killer (NK) cells occurred in a 65-year-old male. Clinical characteristics of this case included hepatosplenomegaly, ascites, marrow infiltrate with leukemic cells, and a WBC up to 82.8 X 10(9) before therapy. One year before his presentation he had been noted to have a WBC of 12.1 X 10(9) with 78% lymphocytes, and 6 months before had noted intermittent fever and weight loss. He and his brother had well documented hereditary cold urticaria. The patient was treated with a modification of ProMACE CYTABOM regimen and had prompt regression of the leukemia with associated acute tumor lysis. Renal, hepatic, and marrow failure predominated during a terminal course that ended 22 days after therapy was commenced, and at autopsy there was no evidence for leukemic cell infiltrate in the liver, spleen or marrow. The leukemic cells were large granular lymphocytes by light and electron microscopic criteria, and had the following immunophenotype: CD2+, DR+, Leu7+, NKH1+, CD11+, CD3-, CD5-, CD4-, CD8-, CD16-. The cells displayed high antibody-dependent cell-mediated cytotoxicity (ADCC) and NK activity, and had a high rate of spontaneous proliferation in vitro that was not augmented by phytohemagglutinin (PHA), concanavalin A (Con A), or pokeweed mitogen (PWM). Southern analysis of DNA from leukemic cells revealed normal germline arrangements for the beta and gamma chains of the T cell antigen receptor and immunoglobulin heavy chain genes. The majority of metaphases were clonally abnormal revealing consistent rearrangements involving extra material attached to the long arms of chromosomes 5 and 11.
 ...
PMID:Leukemia of non-T lineage natural killer cells. 284 89

A case of systemic mastocytosis is reported with an observation period of 20 years. During these two decades multiple manifestations of the disease appeared including urticaria pigmentosis, episodic histamine release, gastro-intestinal involvement and hepatosplenomegaly. The most extraordinary, and possibly unique phenomenon, has been the development of a massive proliferation of large mastocytomas mainly, but not exclusively, limited to the lower extremities. For different reasons (mechanical disability, bleeding, cosmesis), these tumors have required repeated admissions for surgical removal. The most successful technique has involved use of the ultrasonic scalpel.
 ...
PMID:Systemic mastocytosis with extensive large cutaneous mastocytomas: surgical management. 393 76

Cholinergic urticaria presents as wheals and erythroderma that develop in response to a variety of factors which stimulate muscarinic receptors, including exercise, heat, cold, sweat and emotional stress. We describe a 25-year-old man with ulcerative colitis who developed cholinergic urticaria diagnosed by a metacholine test. He had had seven previous attacks over 8 years, and the finding of elevated liver enzymes required admission to four different hospitals. The clinical picture was identical: urticaria, hepatosplenomegaly, lymphadenopathy and elevation of liver enzymes. The causative agent was never identified and recovery was complete, with or without antibiotic therapy. To the best of our knowledge, this is the first description of liver involvement in cholinergic urticaria noted in the English-language medical literature.
 ...
PMID:Transient hepatocellular injury during attacks of cholinergic urticaria. 920 18

Adult-onset Still's disease (AOSD) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, arthralgia or arthritis, lymphadenopathy, hepatosplenomegaly, sore throat and serositis. It is associated with marked leukocytosis, high erythrocyte sedimentation rate, increased level of serum ferritin and negative rheumatoid factor and antinuclear antibody tests. Here we report a patient in whom an urticaria-like rash was an uncommon presenting clinical feature of AOSD. To our knowledge, this association has only been reported once before.
 ...
PMID:Urticaria as a presenting manifestation of adult-onset Still's disease. 1105 30

Systemic mastocytosis (SM), as opposed to cutaneous-only mastocytosis, implies the presence of neoplastic mast cell infiltration in extracutaneous tissue. Mast cell disease in adults is often systemic and often involves the bone marrow. Typical clinical and laboratory features of SM include urticaria pigmentosa, mast cell mediator symptoms (eg, headache, flushing, lightheadedness, urticaria and pruritus, nausea, diarrhea, abdominal pain, and vasodilatory shock), bone pain (eg, osteoporosis, lytic bone lesions, and fractures), hepatosplenomegaly, cytopenia, eosinophilia, elevated serum tryptase and histamine, and bone marrow fibrosis and angiogenesis. SM may be indolent (no evidence of organ dysfunction), aggressive (presence of organ dysfunction), associated with another often chronic myeloid hematologic disease (SM-AHD), or present as mast cell leukemia or sarcoma. Mast cell-mediator symptoms are treated with histamine antagonists and cromolyn sodium. Indolent SM does not require cytoreductive therapy. Aggressive SM and SM-AHD are managed based on their molecular profile. Recent information suggests that FIP1-like-1-platelet-derived growth factor receptor-alpha(+) SM responds well to imatinib mesylate, whereas interferon-alpha should be considered as a first-line treatment in all of the other cases, including patients with Asp816Val(+) SM. Cladribine has been shown to be effective in patients who develop resistance to interferon treatment.
 ...
PMID:Systemic mastocytosis: current concepts and treatment advances. 1508 68

Neonatal-onset multisystem inflammatory disease (NOMID) is due to mutations in the CIAS1 gene. We describe the case of a 5-year-old boy with neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, hepatosplenomegaly, and chronic CNS inflammation associated with sensorineural deafness. Sequence analysis of exon 3 of the CIAS1 gene revealed a novel C1754A/S331R mutation. Since experimental evidence suggests that patients with cryopyrin-associated periodic syndromes (CAPS) could respond to inhibition of binding of interleukin IL-1alpha and IL-1beta to the IL-1 receptor type 1, we treated the child with the IL-1 receptor antagonist anakinra. A remarkable clinical and serological response to therapy was observed, suggesting that pharmacological inhibition of the IL-1 signaling pathway offers an important new treatment option for patients with NOMID.
 ...
PMID:Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. 1653 56

Muckle-Wells syndrome is a rare autosomally dominant disorder belonging to the group of periodic fever syndromes. Three main features of the disease are: (i) urticarial eruptions; (ii) progressive perceptive deafness; and (iii) amyloid nephropathy. A 26-year-old Japanese woman had suffered at birth from an urticarial rash and episodic fever. The fever was frequently associated with chills and ill-defined malaise. There was no familial history of urticarial rash or fever. Although she did not recognize hearing loss, audiometry revealed perceptive deafness. She also had hepatosplenomegaly and hyperimmunoglobulinemia, but did not have persistent arthritis, or any neurological or gastrointestinal disorder. No growth retardation was observed. Skin biopsy specimens from her buttock showed a sparse perivascular and interstitial infiltrate of neutrophils in the papillary dermis. Periodic fever syndrome was diagnosed. Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene mutations of CIAS1 (T785C, C778T, G907A, G1315A, G1075C) were detected. We treated her with prednisolone, which had a partial effect. Previous treatment with colchicines, antihistamines, dapsone, clarithromycin, minocycline hydrochloride and loxoprofen sodium had been unsuccessful. Muckle-Wells syndrome may go undiagnosed for many years or be misdiagnosed as refractory urticaria. Therefore, we should consider the possibility of periodic fever syndrome when we see patients with refractory urticaria and episodic fever.
 ...
PMID:A probable case of Muckle-Wells syndrome. 1655 80

Schnitzler syndrome is characterized by monoclonal IgM gammopathy, urticaria, recurrent fever, evidence of inflammation, bone pain, and arthralgia, occasionally in combination with lymphadenopathy and/or hepatosplenomegaly. Only about 80 cases have been reported to date. Development of a hematological malignancy is the main complication. Recent reports of remissions induced by IL-1 receptor antagonist therapy shed new light on the pathophysiology of the disease.
 ...
PMID:Schnitzler syndrome. 1837 80

Reported herein is an autopsy case of mast cell leukemia, a rare form of systemic mastocytosis, complicated with portal hypertension. A 52-year-old woman presented with urticaria-like skin symptoms, anemia, and thrombocytopenia. Atypical mast cells (CD2+, CD25+, CD117+) with toluidine blue metachromasia were found in the peripheral blood and on bone marrow aspiration smears. Chemotherapy with cytosine arabinoside and idarubicin was ineffective and the patient died of multi-organ failure with rapidly progressing hepatosplenomegaly and large-volume ascites 3 months after admission. At autopsy the bone marrow, spleen, liver, and lymph nodes were extensively infiltrated by atypical tumor cells with occasional bi- or multi-lobated nuclei. They were positive for mast cell tryptase and possessed an activating mutation of the c-kitgene (D816V). Ascites (2200 mL) and non-ruptured esophageal varices with submucosal hemorrhage indicated the presence of severe portal hypertension. Although there was no evidence of liver cirrhosis, the hepatic sinusoids were clogged with tumor cells, with a tendency to be more severe in the perivenular areas, and the lumens of central veins were obliterated by tumor cell infiltration. The present case demonstrates that non-cirrhotic portal hypertension due to blocking of sinusoidal and venous flow could be a serious complication in mast cell leukemia.
 ...
PMID:Mast cell leukemia with rapidly progressing portal hypertension. 1988 34


1 2 Next >>