Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
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This report describes a 52-year-old black male with the isolated finding of an anomalous superior vena cava draining into the left atrium. The patient presented with dizziness, mild cyanosis, polycythemia and normal cardiac and pulmonary findings. The first major diagnostic clue in this confusing clinical presentation was an unsuccessful lung perfusion scan in which intravenous tracer consistently bypassed the lungs. This appears to be the first adult presenting with this rare anomaly. This condition should be suspected if cyanosis, clubbing, and a "normal" cardiac examination coexist and if the more common pulmonary and hematological causes of this triad have been excluded.
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PMID:Isolated drainage of the superior vena cava into the left atrium in a 52-year-old man: a rare congenital malformation in the adult presenting with cyanosis, polycythemia, and an unsuccessful lung scan. 68 85

A 50-year-old female presented with a five months history of recurrent attacks of dizziness, sweatiness, tremors and fainting with loss of consciousness. These were found to be due to hypoglycaemic episodes with blood sugars less than 1 mmol/l and were treated as such. A diagnosis of insulinoma was initially considered, but the patient turned out to have fibrosarcoma of the lung, a rare lung tumour. She also had finger and toe clubbing and features of hypertrophic pulmonary osteoarthropathy.
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PMID:Fibrosarcoma of the lung with extrapulmonary manifestations: case report. 749 32

A 24-year-old man was referred to our clinic in August 2003 with complaints of weakness, dizziness, and bilateral knee pain of 3 years' duration. Bilateral digital clubbing had been found on routine physical examination during his military service 4 years earlier. There were no cardiorespiratory or abdominal symptoms. There was no compromise in the activities of everyday life. The patient was not a chronic smoker. In the family history of the patient, his brother had been diagnosed with pachydermoperiostosis in another center 2 years earlier, but did not return to the hospital for a follow-up investigation of myelofibrosis. On physical examination, the patient showed marked drumstick clubbing of the hands (Fig. 1), and a pale general appearance. The causes of digital clubbing are shown in Table 1 (Fawcett RS, Linford S, Stulberg DL. Nail abnormalities: clues to systemic disease. Am Fam Physician 2004; 69: 1417-1424). Deep nasolabial folds were seen on the face. Skin hypertrophy, cutis verticis gyrata, and seborrhea on the face were also observed. The patient also complained of hyperhidrosis. Examination of the cardiovascular system was normal. There was bilateral swelling of the ankle and knee (Fig. 2). Hepatosplenomegaly was found on abdominal examination. Investigations showed hypochromic microcytic anemia [hemoglobin, 8.58 g/dL (normal, 12.2-18.1 g/dL); hematocrit, 28.1% (normal, 37.7-53.7%); white blood cell count, 3430/mm(3) (normal, 4600-10,200/mm(3)); neutrophils, 2470/mm(3) (normal, 2000-6900/mm(3)); lymphocytes, 820/mm(3) (normal, 600-3400/mm(3)); platelets, 162,000/mm(3) (normal, 142,000-424,000 mm(3)); mean corpuscular volume, 73.7 fL (normal, 80-97 fL)]. Anisocytosis, poikilocytosis, microcytosis, and hypochromia were observed on peripheral blood examination, and the erythrocyte sedimentation rate was 37 mm/h. The serum C-reactive protein level was 50.1 mg/L (normal, 0-5 mg/L). Biochemical parameters, including serum calcium, phosphate, alkaline phosphates and liver function tests, were found to be within the normal range. The causes of secondary hypertrophic osteoarthropathy associated with pulmonary, rheumatologic, endocrine, cardiac, and gastroenterologic disorders were excluded. Growth hormone level and thyroid function tests were normal. Antinuclear antibody, TORCH [Toxoplasma immunoglobulin M (IgM), rubella IgM, cytomegalovirus IgM, herpes simplex IgM] panel, and markers of hepatitis were negative. Serum Igs and rheumatoid factor were found to be within the normal range. There was subperiosteal new bone formation on bilateral knee X-ray (Fig. 3). Radiography of the chest, pulmonary function tests, arterial blood gas, and echocardiography were normal. Abdominal ultrasonography revealed hepatosplenomegaly. Amyloid deposition was not determined in rectal biopsy. Reticulin-type myelofibrosis was found on bone marrow biopsy (Figs 4 and 5). In the cytogenetic study, monosomy 22 was detected in four of 20 metaphase plates.
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PMID:An interesting case of pachydermoperiostosis with idiopathic myelofibrosis associated with monosomy 22. 1965 69

Pulmonary Arteriovenous Fistula (PAVF) is an abnormal communication between the pulmonary veins and pulmonary arteries. Most individuals may have the condition since birth (congenital occurrence), but it can also be an acquired condition. Most individuals with Pulmonary Arteriovenous Fistula also have a hereditary haemorrhagic telangiectasia. The common signs and symptoms of Pulmonary Arteriovenous Fistula are shortness of breath, haemoptysis, chest pain, dizziness, and syncope. Pulmonary Arteriovenous Fistula is treated with embolization and surgery. PAVF are more common in females than males. Complete evaluation of medical history along with a thorough physical examination required to diagnose PAVF. The CT scan is more sensitive than a chest x-ray in establishing a diagnosis. However pulmonary angiography is the gold standard. Many clinical conditions may have similar signs and symptoms. PAVF is associated with variety of complications, some of which may be life-threatening. These may include: Stroke, bleeding in the lung and brain abscess. Typically, individuals with mild conditions presenting no symptoms may not require any treatment. The treatment of Pulmonary Arteriovenous Fistula may include: Embolization and surgery (the later may be required in a cases not responding to embolization). During surgery, the abnormal vessels are removed along with surrounding lung tissue. We report a rare case of large right pulmonary arterio-venous fistula (PAVF) which was misdiagnosed as mass lung in a 30-year-old lady who presented with generalized seizures due to secondary polycythemia, right sided hemiparesis, central cyanosis and clubbing. She had hypoxemia while breathing ambient air and little improvement with 100% oxygen. Diagnosis was clinched by pulmonary CT angiography which revealed a large PAVF.
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PMID:An unusual case of pulmonary arterio-venous fistula (PAVF). 3174 78