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)

A patient with asymptomatic hypocholesterolemia, mild hyperbilirubinemia, and splenomegaly was found, on lipoprotein analysis, to have Tangier disease (alpha-lipoprotein deficiency). He represents the first patient with the disease in the northeastern Unit States. Although free of clinical evidence of atherosclerosis at age 38 years, the patient has widespread tissue cholesterol ester deposition and a stron family history of atherosclerosis. Tangier disease may be much underdiagnosed; it should be suspected in every patient with hypocholesterolemia.
JAMA 1977 Jul 25
PMID:Tangier disease (alpha-lipoprotein deficiency). 19

Two patients in two families had hereditary spherocytosis but lacked a population of RBCs with increased osmotic fragility after incubation. The diagnosis in each patient was confirmed by the presence of splenomegaly, spherocytosis, reticulocytosis, and abnormal autohemolysis corrected by glucose. Sodium flux studies showed increased sodium permeability of the RBC membrane in one patient and normal permeability in another. Hereditary spherocytosis was also present in three other family members of patient 2. The autohemolysis test is of value in confirming the diagnosis in patients with hereditary spherocytosis and normal incubated osmotic fragility.
JAMA 1979 Jul 06
PMID:Hereditary spherocytosis with normal osmotic fragility after incubation. Is the autohemolysis test really obsolete? 44 68

Volvulus of the spleen in absence of malarious splenomegaly is rare. Most reported instances occur in young and middle-aged women and are related to a congenital abnormality of the mesogastrium, pregnancy, and multiparity. In this reported case of splenic volvulus in a young, multiparous woman, posterior mesogastrium malformation was the cause. Certain preoperative findings could suggest this infrequent diagnosis in future cases.
JAMA 1977 Jan 31
PMID:Volvulus of the spleen. 57 70

Severe splenomegaly and anemia developed in a 5-year-old girl with diffuse lymphangiomatosis of the upper part of the body. Radioisotope scanning and celiac angiography demonstrated lymphangiomatosis of the spleen, a rare but diagnosable condition. Intractable infection in areas of ulcerated skin led to her death from overwhelming sepsis.
JAMA 1976 Nov 15
PMID:Lymphangiomatosis with splenic involvement. 98 35

We describe herein the clinical features, diagnosis, and successful treatment of two patients with Legionella micdadei pneumonia, the Pittsburgh pneumonia agent. The rapid pulmonary cavitation and relapse of symptoms after a course of therapy in a renal transplant recipient, and the prolonged illness with hemorrhagic pleural fluid, splenomegaly, and multiple-organ dysfunction in a nonimmunocompromised host, illustrate the clinical spectrum of infections with this organism.
JAMA 1983 Mar 25
PMID:Legionella micdadei (Pittsburgh pneumonia agent). Two infections with unusual clinical features. 633 66

A patient had cutaneous vasculitis, leukopenia, and splenomegaly caused by the antithyroid drug, propylthiouracil. Histopathologic changes of acute vasculitis of the superficial and deep dermal blood vessels accompanied by fibrin thrombi formation were found in biopsy specimens of the cutaneous lesions. Direct immunofluorescence studies demonstrated IgM and C3 of the vessel walls suggesting immune complex deposition. The literature disclosed five cases with similar features associated with propylthiouracil therapy. Characteristic cutaneous findings include a recurrent, self-limited, symmetrical purpuric eruption that can involve the face or earlobes. Clinicians should recognize these changes as a cutaneous sign of a vasculitis associated with propylthiouracil therapy.
JAMA 1980 Feb 01
PMID:Propylthiouracil-induced cutaneous vasculitis. Case presentation and review of the literature. 689 30

Hairy cell leukemia (HCL) is a chronic B-cell leukemia noted for an indolent course that ultimately results in cytopenias and massive splenomegaly. Whereas treatment with the nucleoside purine analogues cladribine and pentostatin results in lengthy remissions in nearly all patients with HCL, most patients will experience relapse while a small percentage of patients' disease fails to respond to therapy in the first place. Retreatment with a purine nucleoside analogue often leads to an effective but limited response. For decades, few other viable therapeutic options were available to these patients who required retreatment. Recently, new insights into the mechanism of disease of HCL have led to research in new potential treatment agents, either alone or with a purine nucleoside analogue. Clinical trials with rituximab, bendamustine, and conjugate immunotoxins will reveal what role these therapies will have in HCL treatment. A better understanding of the BRAF/MEK/ERK pathway and the B-cell signaling pathway has allowed further exploration into the novel drugs vemurafenib, dabrafenib, trametinib, and ibrutinib.
JAMA Oncol 2016 Jan
PMID:Current Therapy and New Directions in the Treatment of Hairy Cell Leukemia: A Review. 2651 68