Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 69-year-old woman was admitted to the hospital because of coughing, dyspnea, generalized fatigue, and pretibial edema. A chest X-ray film revealed cardiac enlargement, a left hilar mass, and a small nodule in the right middle lung field. Echocardiography showed a massive pericardial effusion. A chest CT scan showed pericardial effusion, an anterior mediastinal mass, and a small nodule in the right upper lobe. Examination of a percutaneous biopsy specimen showed round and spindle-shaped tumor cells and lymphocyte infiltration, which was consistent with mixed-cell-type thymoma. Hematological examination showed macrocytic anemia, and the concentration of vitamin B12 was 65 pg/ml (249-938 pg/ml). A test for anti-parietal cell antibodies was positive. Our diagnosis was pernicious anemia and stage IVb invasive thymoma (by Masaoka's classification). Because of the intrapulmonary metastasis and pericardial effusion, the patient underwent chemotherapy. The tumor shrank, so a thoracotomy was done. However, the tumor was found to have invaded the heart and large vessels, and it could not be removed. After surgery the thorax was irradiated. Invasive thymoma complicated by pernicious anemia is rare.
 ...
PMID:[Invasive thymoma in patient with pernicious anemia and pericardial effusion]. 929 2

Transcobalamin II (TC II) deficiency is a rare disorder of cobalamin (CBL, vitamin B12) metabolism that occurs due to mutations in transcobalamin gene (TCN2). Hemophagocytic lymphohistiocytosis (HLH) in contrast is a syndrome characterized by uncontrolled immune response with hyperinflammation. A 2-month-old male baby was admitted with complaints of fever, cough, diarrhea, and respiratory distress. The parents were first cousins. The baby exhibited five of the eight diagnostic criteria for HLH-2004 and was diagnosed as HLH. A second bone marrow aspiration demonstrated megaloblastic changes in the erythroid series. The patient's vitamin B12 level was normal; however, hyperhomocysteinemia was present. A genetic deficiency of TC II was suspected. The patient and his parents were tested for TCN2 mutation. He had a homozygote mutation that was not included in Human 'Gene Mutation Database Cardiff'. The patient was treated with intramuscular vitamin B12, which was followed by improvement in both clinical and laboratory findings. He was 12 months old at the time of this report, with normal physical and neuromotor development. In this case presenting with the clinical and laboratory findings of HLH, TC II deficiency was diagnosed. A new mutation was found that was not reported before. Potential causative mechanisms of HLH induced by defects of cobalamin synthesis merit further investigation.
 ...
PMID:A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis. 2456 82