Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes the development of atrioventricular block by programmed stimulation of the right ventricular (RV) outflow tract in a patient with undiagnosed syncope. Burst pacing from the RV apex and outflow tract and programmed stimulation from the RV apex were unsuccessful. The observations were consistent with the fatigue phenomenon of the His-Purkinje system and illustrate the importance of an appropriate stimulation protocol in the electrophysiological evaluation of syncope.
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PMID:Demonstration of a His-Purkinje fatigue phenomenon with programmed stimulation of the right ventricular outflow tract. 1104 87

Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number 1.5.99.1). Both enzymes use flavin adenine dinucleotide and folate in their reaction mechanisms. We have identified a 38-year-old man who has a lifelong condition of fishlike body odor and chronic muscle fatigue, accompanied by elevated levels of the muscle form of creatine kinase in serum. Biochemical analysis of the patient's serum and urine, using (1)H-nuclear magnetic resonance NMR spectroscopy, revealed that his levels of dimethylglycine were much higher than control values. The cDNA and the genomic DNA for human DMGDH (hDMGDH) were then cloned, and a homozygous A-->G substitution (326 A-->G) was identified in both the cDNA and genomic DNA of the patient. This mutation changes a His to an Arg (H109R). Expression analysis of the mutant cDNA indicates that this mutation inactivates the enzyme. We therefore confirm that the patient described here represents the first reported case of a new inborn error of metabolism, DMGDH deficiency.
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PMID:Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 1123 3

Hemangiomas represent the most common primary tumor of the liver. Clinically the significance of these lesions is highly variable. The management of hemangiomas is controversial and is intimately related to the size, symptoms, and associated comorbidities of the patients who harbor these benign tumors. Series suggest that the vast majority of hemangiomas are less than 4 cm, asymptomatic, and clinically incidental findings. Symptomatic hemangiomas are large and associated with a constellation of vague upper abdominal complaints including pain, mass, distention, early satiety, and weight loss. A number of small series of surgically treated symptomatic hemangiomas have demonstrated enucleation as a safe and effective intervention. We report a collection of case reports using embolization as a primary treatment of symptomatic hemangiomas. The first patient is a 73-year-old black man previously treated for prostate cancer by radical prostatectomy and radiation. He developed weight loss, abdominal fullness, and early satiety. His symptoms were attributed to a large left lateral segmental liver mass that was biopsy proven to be a hemangioma. The second patient is a 49-year-old black women who complained of weakness, fatigue, night sweats, and anemia. The only abnormality discovered was a large right posterior hemangioma. The third patient is a 49-year-old black women with unexplained right upper quadrant pain and anemia who was found to have a 19 x 11 x 7.5-cm left hepatic hemangioma by CT. All three patients underwent elective treatment of their hemangiomas with highly selective hepatic embolization. There were no significant complications related to the procedures. Symptoms resolved for all patients acutely after treatment. The use of embolization for hepatic hemangiomas provides safe and effective treatment of the patient's symptoms while avoiding operative intervention, extended hospitalization, or postoperative recuperation. This treatment modality should be considered for the symptomatic hemangioma under elective conditions.
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PMID:Embolization for management of hepatic hemangiomas. 1124 41

Seroconversion to human immunodeficiency virus(HIV) associated with an illness characterized by fever, sore throat, and lymphadenopathy, sometimes with rash, diarrhea, and vomiting. Leukopenia and liver dysfunction also can occur in some patients. The antibody response associated with HIV infection is directed against a variety of viral proteins. Western blot analysis(WB) is used currently for determining HIV-1 infection. A 47-year-old man whose wife was infected with HIV was found to have contracted primary HIV infection. His first HIV antibody examination 4 weeks after speculated exposure was negative by particle agglutination(PA) method and WB. Approximately 2 weeks later he experienced fever, general fatigue, oral candidiasis. His second laboratory examination showed positive PA and indeterminate WB tests, an HIV-RNA PCR of 4.4 x 10(5) copies/ml, 223 CD4+ lymphocytes/microliter, and liver dysfunction. Two weeks later, all of his symptoms and the abnormal lab data had improved with antifungal therapy alone and no anti-HIV therapy. Subsequently, it took 16 more weeks before HIV infection could be diagnosed by WB. It is necessary to adopt an appropriate HIV-1 PCR method to shorten the diagnostic window in primary HIV infection.
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PMID:[A case of primary HIV infection with oral candidiasis not diagnosed by western blot]. 1130 31

Restless legs syndrome (RLS) occurs in some persons with iron deficiency, and some persons with RLS benefit from oral iron therapy. Approximately one in 200 persons of northern European ancestry have hemochromatosis attributable to inheritance of two common mutations of the hemochromatosis-associated HFE gene on chromosome 6. We evaluated and treated a 46-year-old man with RLS who was diagnosed as having hemochromatosis after he developed new symptoms associated with taking iron therapy for RLS. He had transferrin saturation 88%, serum ferritin 658 ng/ml, and C282Y homozygosity. Therapeutic phlebotomy of one unit of blood (450-500 ml) weekly (total 24 units) relieved his non-RLS symptoms, caused RLS symptoms to occur more frequently, and was associated with transient fatigue and mild dependent edema. His sister, who also has RLS, was subsequently diagnosed as having hemochromatosis. We conclude that serum transferrin saturation and ferritin levels should be measured before initiation of iron therapy of RLS. Patients with a history of iron deficiency or low serum iron parameters should undergo evaluation for iron deficiency; patients who have histories suggestive of hemochromatosis or iron overload or elevated pre-treatment transferrin saturation or serum ferritin levels should undergo evaluation to determine the cause of these abnormalities before they are treated with iron. In all persons with RLS treated with oral iron, serum iron parameters should be re-measured once or twice yearly during therapy.
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PMID:Hemochromatosis and iron therapy of Restless Legs Syndrome. 1131 89

A 69-year-old Japanese man suffered from bronchial asthma, atrial fibrillation, general fatigue, high fever, and weight loss of about 5 kg within a month. He also had intermittent claudication, a tingling feeling in his fingers and toes, and an ulcer on his toe. His laboratory data revealed leukocytosis with absolute eosinophilia. The patient was treated with predonisolone 30 mg daily. Although the ulcers healed once, the lesions recurred with tapering predonisolone. The patient visited us because of the ulcer on his toe. Physical examination showed a 2 cm ulcer surrounded by slight erythema on his right fourth toe. Magnetic resonance angiography detected tapering stenosis of the medium-sized arteries in both legs. A biopsy from his myocardium showed the infiltration of eosinophils into the myocardium. The neuron conduction rate of his lower leg was slower than that of the normal control, demonstrating mononeuritis. From these findings, we diagnosed this patient as Churg-Strauss syndrome.
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PMID:Churg-Strauss syndrome involving medium-sized arteries. 1134 69

In his keynote address to the Fifth Annual International AIDS Meals Providers Conference, Frank Abdale discusses budget cuts and other frustrations he faced as he prepared his talk. His faith was renewed by a heartwarming gesture from a client. Abdale tells how his work has evolved over the years and how people's views about AIDS have changed. Abdale puts a personal spin on his stories as he tells how he deals with donor fatigue and plans for the future. He encourages keeping the faith and the importance of taking care of yourself as you serve others.
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PMID:Keeping the faith. 1136 90

Zinc is involved in the biochemical processes supporting life, such as cellular respiration, DNA reproduction, maintenance of cell membrane integrity and free radical scavenging. Zinc is required for the activity of more than 300 enzymes, covering all 6 classes of enzyme activity. Zinc binding sites in proteins are often of distorted tetrahedral or trigonal bipyramidal geometry, made up of the sulphur of cysteine, the nitrogen of histidine or the oxygen of aspartate and glutamate, or a combination. Zinc in proteins can either participate directly in chemical catalysis or be important for maintaining protein structure and stability. The nutritional habits of elite athletes during training and competition are quite different from the recommended diet in the majority of the population. Endurance athletes often adopt an unusual diet in an attempt to enhance performance: an excessive increase in carbohydrates and low intake of proteins and fat may lead to suboptimal zinc intake in 90% of athletes. Mild zinc deficiency is difficult to detect because of the lack of definitive indicators of zinc status. In athletes, zinc deficiency can lead to anorexia, significant loss in bodyweight, latent fatigue with decreased endurance and a risk of osteoporosis.
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PMID:Zinc status in athletes: relation to diet and exercise. 1147 19

Pleural effusions seldom accompany nontuberculous mycobacterial infections. We reported one such case of M. avium lung infection with pleural effusion. A 40-year old male was admitted to our hospital complaining of right chest pain and general fatigue. His chest X-ray showed a consolidation in the right lower lung field. The day after admission, a right pleural effusion appeared. The fluid was exudative and microbiological examinations of the effusions, including staining and culturing, proved negative. However, one month afteradmission, acid fast bacilli were observed in his sputum and a subsequent sputum culture specimen revealed the presence of M. avium. Treatment with antimycobacterial agents was promptly commenced and the patient's effusion and lung consolidation was gradually resolved.
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PMID:[A case of Mycobacterium avium lung infection with a pleural effusion]. 1149 70

Whipple disease is a rare infectious disorder with multiorgan manifestations and a widely varied clinical presentation. Involvement of the small intestine with resultant malabsorption is a classic finding, although extraintestinal manifestations such as fever and arthralgias may precede gastrointestinal symptoms by many years. We describe a 63-year-old man in whom Whipple disease was diagnosed 22 years after his initial presentation (36 years after symptom onset) with lymphadenopathy, when a biopsy yielded nonnecrotizing granulomas. His recent symptoms included persistent fatigue, weight loss, fever, and arthralgias. Endoscopic biopsy specimens from the distal duodenum showed features consistent with Whipple disease, and Tropheryma whippelii DNA was detected in both the small bowel biopsy specimen and the blood specimen by polymerase chain reaction and DNA probe hybridization. His symptoms resolved with long-term co-trimoxazole therapy. We discuss the protean manifestations of Whipple disease, the difficulties in clinical diagnosis, and the recent advances in the molecular diagnosis of this disorder.
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PMID:Successful treatment of Whipple disease diagnosed 36 years after symptom onset. 1160 93


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