Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young man with bleeding symptoms, mild thrombocytopenia and abundant marrow megakaryocytes was classified as having idiopathic thrombocytopenic purpura. Neither prednisone therapy nor splenectomy modified the clinical picture. Subsequently, a severe defect of platelet aggregation and release reaction was demonstrated. Fifteen months after the onset of bleeding symptoms, fever and hepatomegaly appeared and the diagnosis of T cell non Hodgkin lymphoma was made on the basis of a histologic review of paraffin sections of the spleen. Chemotherapy induced remission of the lymphoma, disappearance of bleeding symptoms and normalization of the platelet count and function.
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PMID:Qualitative and quantitative platelet defect with bleeding symptoms as presenting feature of non Hodgkin lymphomas. 172 Jul 56

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. Patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages. A positive result of the Direct Coomb's test, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura are the most common features of autoimmunity in patients with ALPS. Elevated numbers and percentages (>1%) of double-negative (CD4-CD8-) T cells, and characteristic pathologic findings in lymph nodes or spleen are other important diagnostic features. In this report, we present the clinical, immunologic, and pathologic features of two children who were diagnosed with ALPS. The early recognition of ALPS in children with enlarged lymph nodes, hepatosplenomegaly, and autoimmune hematologic features has important diagnostic and prognostic value in avoiding expensive and time-consuming studies and unnecessary treatments. The ratio of CD4-CD8- T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in these patients in order to establish an early diagnosis and treatment.
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PMID:Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature. 1245 4

A protein malnutrition survey was carried out in ten areas of four States of South India among children under 5 years of age in families with a monthly income of less than Rs 100, estimated to constitute 85% of the population. The agricultural situation and socio-economic conditions are described. The diets investigated consisted largely of cereals, with small quantities of pulses and green vegetables; milk, meat and eggs were little eaten. The survey covered investigation of infant care, feeding and weaning practices, clinical examinations, anthropometric measurements, determinations of haemoglobin and serum protein, and analysis of hospital records.Although infants were usually breast-fed for a long time, the quantity of breast milk was found to be low after 6 months, at which time supplementary foods were introduced, but these were usually inadequate. Extreme growth retardation was seen after weaning. Diarrhoea was complained of in some 20% of children. Such deficiency signs as dyschromotrichia, hepatomegaly, moon face, angular stomatitis and xerophthalmia were frequently seen. Frank cases of kwashiorkor and marasmus were observed in 1% and 1.7% respectively of children at home. These findings and others clearly show protein malnutrition to be a problem of very considerable magnitude in the poorer communities of South India. A comparison is made with the results of surveys conducted in Africa and in Central America.
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PMID:Protein malnutrition in South India. 1443 26

Tangier disease is a very rare autosomal recessive inherited disorder characterized by markedly reduced high-density lipoprotein (HDL) levels, characteristic large, yellow-orange tonsils, and enlarged liver, spleen and lymph nodes. It is caused by mutations in the ABCA1 gene. There is no specific treatment, and medications traditionally used to increase HDL are ineffective. A number of patients with non-classical Tangier disease have been described in the literature, who presented with low HDL levels, corneal lesions, hepatosplenomegaly, and thrombocytopenia. We report here about a 45-year-old female with a past medical history of early coronary artery disease, myocardial infarction, multiple episodes of angina, immeasurable HDL, and a history of idiopathic thrombocytopenia purpura. She had a tonsillectomy performed previously, but did not remember if the tonsils were of any unusual color. There was no history of peripheral neuropathy. Her family history is significant for her father and mother having Alzheimer disease and hypertension, respectively. On physical examination she did not have any hepatosplenomegaly or corneal opacities. She was found to have three mutations in the ABCA1 gene. These were designated A1046D (c.3137C>A) in exon 22; Y1532C (c.4595A>G) in exon 34, and W1699C (c.5097G>T) in exon 37. All three have been reported to be deleterious in functional studies. The patient has immeasurable HDL, which leads us to assume that two mutations are on one allele and one mutation on the other. We suspect that this condition is under-diagnosed, and as more patients are reported in the literature, the phenotype of Tangier disease will be elucidated further.
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PMID:A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. 2343 Sep 4

Treatment options for lymphoproliferative disorders, including chronic lymphocytic leukemia (CLL), increasingly are based upon molecular targets, taking advantage of the immense research output over the past several years elaborating genetic abnormalities, downstream signaling, cell-surface immunobiochemistry, and microenvironmental stimuli. The latter targets have been particularly useful for the treatment of multiple myeloma, transforming a previously uniformly, fatal disease to one of a more chronic and potentially curable disorder. Subsequently, new treatment approaches are less likely to be based on the more classic types of cytocidal therapy, which, although successful and essential for the more aggressive disorders that are immediately life-threatening, tend to be less so, with respect to quality of life, risk versus benefit ratio and overall curability for the indolent diseases. Because the majority of newer agents are not available to the clinicians practicing in the community, a number of treatment options developed over the past two decades are capable of significantly improving the quality of life of patients with advanced CLL. The initial clinical approach to the patient should be based on performance status, age, comorbidities, and increasingly on prognostic factors elucidated over the past three decades. Initially, both simple laboratory studies and easily measurable clinical manifestations were used to guide the clinician (lymphocyte count, anemia, thrombocytopenia, enlarging lymph nodes, splenomegaly, hepatomegaly), and clinical staging systems were developed. At present a cadre of biologic factors, including cytogenetic alterations, gene expression profiles with subsequent immunoglobulin abnormalities, and expression of CD38 and Zap-70, are now available and are standard decision-making criteria to treat a patient with CLL. An initial period of observation allows the clinician along with the patient to gather all the information necessary to make an informed treatment decision. Frequently, a "watch and wait" approach, which for CLL does not appear to harm the patient, is the most appropriate decision. Complications of CLL, such as autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura, will lead to treatment at least temporarily in those patients who might otherwise have not needed therapy. Frontline therapy will range from easily administrable single-agents to combination chemoimmunotherapy regimens. Experimental protocols, utilizing "post state of the art" treatments, are available in the form of research protocols at major treatment centers. At the present time, it is premature to recommend bone marrow ablative therapy as initial treatment unless the prognosis appears grave and the patient can withstand the rigors of this approach.
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PMID:Update on chronic lymphocytic leukemia: overview of new agents and comparative analysis. 2349 26

Peliosis hepatis is a rare condition that can cause hepatic hemorrhage, rupture, and ultimately liver failure. Several authors have reported that peliosis hepatis develops in association with chronic wasting disease or prolonged use of anabolic steroids or oral contraceptives. In this report we describe a case in which discontinuation of steroid therapy improved the condition of a patient with peliosis hepatis. Our patient was a 64-year-old woman with a history of long-term steroid treatment for idiopathic thrombocytopenic purpura . Her symptoms included abdominal pain and weight loss; the only finding of a physical examination was hepatomegaly. We performed computed tomography (CT) and magnetic resonance imaging (MRI) of the liver and a liver biopsy. Based on these findings plus clinical observations, she was diagnosed with peliosis hepatis and her steroid treatment was terminated. The patient recovered completely 3 months after steroid discontinuation, and remained stable over the following 6 months.
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PMID:Peliosis hepatis presenting with massive hepatomegaly in a patient with idiopathic thrombocytopenic purpura. 2677 Sep 28