Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of the present work was to perform a prospective analysis of the significance of macrocytic red cells through the study of all patients with MCV higher than 105 fl (those treated with cytotoxic or immunosuppressing drugs were excluded). Conventional clinical, haematologic and biochemical studies were carried out on every patient, along with B12 and folate levels, bone marrow examination and bone marrow karyotype and, whenever B12 deficiency was present, complete Schilling's test. Special attention was paid to the aetiological inquiry and post-therapeutical course. A series of 109 patients was collected. Decreased serum B12 rates with abnormal Schilling's test and response to parenteral therapy were present in 26 cases (24%). Of them, 22 fulfilled the diagnostic criteria for Biermer's anaemia, while in the remaining 4 there was impaired intestinal absorption. Serum or red-cell folate deficiency was found in 34 other cases (31%). Alcoholism was present in 20 of them, abnormal diet in 10, malabsorption syndrome in 2, and excessive demands in 2 others. Hence, vitamin deficiency underlay macrocytosis in 60/109 cases (55%). In the remaining 49 cases (45%) macrocytosis was not accompanying folate or B12 deficiency. Of these, severe liver disease was found in 16 patients (alcoholic in 15 and post-hepatitis in 1 case), with increased serum B12 in 10 cases and increased serum or erythrocytic folate in 3 others. Nineteen patients within this group had primary myelodysplastic syndromes (RA, 8; SRA, 4; RAEB, 7), and the remaining 14 cases had several haematological (AIHA, 4; CLL, 1, T-cell lymphoma 1, M-6, 1, and myelofibrosis with myeloid metaplasia, 2) or non-haematological diseases (heart insufficiency, 2; COPD,3).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Hematologic significance of erythrocytic macrocytosis: prospective analysis of 109 successively studied cases]. 271 Dec 82

Heavy chain diseases (HCD) are immunoproliferative disorders characterized by the production of monoclonal immunoglobulin molecules composed of deleted heavy chains devoid of light chains. The diagnosis is established by immunoelectrophoresis (possibly combined to immunoselection) or immunofixation. The clinicopathologic features of gamma HCD are heterogenous, often somewhat similar to macroglobulinemia. Some patients show no evidence of underlying malignant lymphoproliferation. Autoimmune disorders are frequent. mu HCD is rare and often presents as chronic lymphocytic leukemia with hepatosplenomegaly and vacuolated plasma cells on bone marrow smears. Alpha chain disease is the most frequent. In its usual digestive form, the clinicopathologic pattern is uniform. The main clinical features are chronic diarrhea and severe malabsorption syndrome. At the initial stage, there is a diffuse lymphoplasmocytic infiltration of the small intestine and mesenteric nodes, sometimes reversible after treatment by antibiotics alone. At the terminal stage, a malignant lymphoma, often of immunoblastic type, occurs. The natural history and epidemiology of alpha HCD should provide insights into the pathogenesis of malignant lymphoid proliferations.
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PMID:[Heavy chain diseases]. 850 62