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)

A syndrome of dysarthria, clumsiness and abnormal ocular movements are described in a man and his 3 children. His father, who died when our patient was born, also had the same speech abnormality. Our patient also had multiple painful lipomas suggesting a probable diagnosis of adipositas dolorosa Dercum. Although he looked muscular he complained of muscular weakness and fatigue. Oral treatment with a local anesthetic, mexiletin, inhibited the pain in the lipomas. Analysis of the speech disorder in our patient and his children revealed disturbances in the coordination of jaws, larynx and tongue with a poor control of pitch and volume and impaired intelligibility. The poor fine coordination of hands, clumsiness when walking, dysarthria and disturbance of eye-movements could be due to a familial malformation in the pons or cerebellum. Computer tomography and X-ray of head were normal but the grooves on the surface of the cerebellum were more marked than usual.
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PMID:A syndrome with painful lipomas, familial dysarthria, abnormal eye-movements and clumsiness. 359 58

A boy with riboflavin-responsive beta-oxidation deficiency (multiple acyl-CoA dehydrogenation deficiency) was assessed clinically and biochemically after 3 years of continuous riboflavin medication. He was diagnosed at the age of three years after an attack of a Reye's syndrome-like disease. During the 3 years of assessment he has experienced no serious disease; although short episodes of fatigue and loss of appetite have been noted. His mental and physical development has been normal. Biochemically the abnormal excretion of organic acid metabolites, characteristic of the acyl-CoA dehydrogenation deficiency, has been continuously present. Quantitatively there has been a trend to a more simple picture with ethylmalonic acid as the predominant metabolite. However, because of the large within-day variation in the excretion of all the metabolites, changes following diet and riboflavin trials must be interpreted with caution in these patients.
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PMID:Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. 375 63

The clinical and electrophysiological features and the natural history of median intra-His block with a normal resting electrocardiogram were studied: 11 patients had a fixed split H1-H2 potential with a spontaneous or induced block between H1 and H2. The patients (5 men and 6 women) were aged 17 to 70 years (average 53 years). Associated pathology included 2 cases of aortic stenosis (1 severe), 1 case of ischaemic heart disease (effort angina), 1 case of mitral valve prolapse and 2 cases of hypertension. The presenting symptoms were syncope (4 cases), dizziness (2 cases), effort angina (1 case) and tiredness (3 cases); 1 patient was asymptomatic. Holter monitoring (24 hours) was performed in 8 patients and s-owed paroxysmal conduction defects in 6 cases; 4 Mobitz II 2nd degree AV block, 1 3rd degree AV block with narrow QRS complexes and 1 case of blocked atrial extrasystoles at coupling intervals longer than 480 ms and sinus cycle lengths of over 800 ms. Exercise testing by bicycle ergometry (4 patients) was normal in 1 case and revealed Mobitz II 2nd degree AV block in 3 cases. Baseline electrophysiological studies showed an A-H1 interval ranging from 60 to 100 ms (average 78 ms), a H1-H2 interval of 20 to 40 ms (average 31 ms) and a H2-V interval of 30 to 50 ms (average 32 ms). Block between H1 and H2 was observed: "spontaneously" during electrophysiological investigation in 6 cases, after IV atropine in 1 case, during overdrive atrial pacing at rates slower than 150/min in 7 cases, after atrial extrastimulus with a functional intra-His refractory period of over 420 ms in 7 cases, after ajmaline in 3 of the 4 cases in which this test was performed. A cardiac pacemaker was implanted in 10 patients in whom the initial symptoms have all regressed; the remaining patient considered to be "epileptic" had another syncopal attack under therapy and was finally paced. This series demonstrates that the diagnosis of median intra-His block depends on precise electrophysiological criteria and should be looked for even when the presenting symptoms are atypical; some of our patients complained only of tiredness. The value of Holter monitoring and careful endocavitary investigation is emphasised. Median intra-His block should be distinguished from longitudinal and functional His bundle dissociation.
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PMID:[Clinical and electrophysiological aspects of median intra-His bundle block with normal electrocardiogram at rest]. 392 29

We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was hyperreflexia of the lower limbs. His condition improved clinically with hydroxycobalamin therapy. Patient 2 was hospitalized at 6 weeks of age because of lethargy and poor feeding. She was found to have macrocytosis. Despite an initial good clinical response to hydroxycobalamin, she developed a striking pigmentary retinopathy. Methylmalonic aciduria persisted in both patients, and homocystinuria persisted in patient 1 despite therapy. The diagnosis of Cbl C disease has been confirmed in both patients by biochemical studies of cultured fibroblasts, including complementation studies. The differences in age of onset and clinical findings together with the similar biochemical findings in these two patients demonstrate the heterogeneity of phenotypic expression in patients with apparently identical abnormalities of vitamin B12 metabolism.
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PMID:Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. 395 Aug 20

The in vitro deproteinized vastus lateralis muscle buffer capacity, carnosine, and histidine levels were examined in 20 men from 4 distinct populations (5 sprinters, 800-m runners; 5 rowers; 5 marathoners; 5 untrained). Needle biopsies were obtained at rest from the vastus lateralis muscle. The buffer capacity was determined in deproteinized homogenates by repeatedly titrating supernatant extracts over the pH range of 7.0-6.0 with 0.01 N HCl. Carnosine and histidine levels were determined on an amino acid AutoAnalyzer. Fast-twitch fiber percentage was determined by staining intensity of myosin adenosinetriphosphatase. High-intensity running performance was assessed on an inclined treadmill run to fatigue (20% incline; 3.5 m X s-1). Significantly (P less than 0.01) elevated buffer capacities, carnosine levels, and high-intensity running performances were demonstrated by the sprinters and rowers, but no significant differences existed between these variables for the marathoners vs. untrained subjects. Low but significant (P less than 0.05) interrelationships were demonstrated between buffer capacity, carnosine levels, and fast-twitch fiber composition. These findings indicate that the sprinters and rowers possess elevated buffering capabilities and carnosine levels compared with marathon runners and untrained subjects.
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PMID:Buffering capacity of deproteinized human vastus lateralis muscle. 396 4

An autopsy case of hypertrophic obstructive cardiomyopathy with extensive myocardial fibrosis is reported in a 43-year-old male. His mother died suddenly at 55. At the age of 39 the patient felt fatigue and feverish sensation followed by dyspnea and palpitation on exertion. He responded to beta-blocker and was discharged on the 51st hospital day. He died suddenly during his work three years and one month after discharge. The heart weighs 700 g. The thickness of the ventricular septum measures up to 3.2 cm, and that of the left ventricular posterior wall 2.2 cm. Subaortic endocardium is moderately thickened. Many patchy fibroses of various sizes and broad linear fibroses are mainly observed in the ventricular septum and in the left ventricular free wall. Microscopic examination shows severe fascicular disarray of hypertrophied myocardial fibers in the ventricular septum and in a part of the left ventricular anterior wall. Pericardial fibrosis, granulation tissue with many capillaries, and slight lymphocytic infiltrate are also noted. These findings suggest that the patient have both congenital hypertrophic cardiomyopathy and myocarditis. There are following possibilities as regards the relation between the two: first, haphazard association of cardiomyopathy with myocarditis; secondly, myocarditis triggered the onset or progression, or both, of cardiomyopathy. He also had liver cirrhosis, probably alcoholic, which appears to accelerate the progression of myocardial disarray and fibrosis.
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PMID:[Hypertrophic obstructive cardiomyopathy with extensive myocardial fibrosis: case report with autopsy]. 403

Sprint-trained athletes demonstrate a remarkable ability to perform exercise which results in fatigue quickly. However, the mechanisms for these enhanced performance capabilities have not been fully elucidated. Elevation in glycolytic enzymes and increased fast-twitch fiber compositions which would result in an enhanced ability to produce ATP do not appear to be capable of accounting for the greatly enhanced performances. Associated with these performances are large accumulations of anaerobic end products which produce decrements in intracellular pH. Because intracellular pH decrements of sufficient magnitude have been shown to inhibit athletic performances, it has been postulated that sprint-trained athletes have an enhanced proton-sequestering capability which would ultimately alter the rate of pH decrement. This would delay the inhibition of the enzymatic and contractile machinery resulting in enhanced performances. The intracellular buffers that are capable of contributing to this enhanced buffering capacity were identified as inorganic phosphate, protein-bound histidine residues, the dipeptide carnosine, bicarbonate, and creatine phosphate. Thus, it has been suggested that increased buffer capacities within sprint-trained athletes may be a contributing factor to his/her enhanced anaerobic performance capacities.
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PMID:Possible contribution of skeletal muscle buffers to enhanced anaerobic performance: a brief review. 609 20

Three patients with symptomatic sinus bradycardia due to sick sinus syndrome were treated with permanent ventricular pacing for periods ranging from 2.5 to 4 years. All three patients had ventriculo-atrial conduction on routine electrocardiography. Although ventricular pacing was effective, they complained of fatigue, lightheadedness, and near syncope. Hemodynamic studies revealed the presence of regular cannon waves in the right atrium as well as in the pulmonary artery wedge pressure curves. Temporary atrial pacing resulted in disappearance of the cannon waves and a significant rise in cardiac output (32-48%). After normal atrio-ventricular conduction was confirmed by rapid atrial stimulation and His bundle electrocardiography, the pacing mode was changed to permanent atrial pacing on demand. The effort tolerance of the patients markedly improved, and the previously mentioned symptoms disappeared. Control hemodynamic studies 9 to 12 months after implantation of the atrial demand pacemaker showed that the improvement in cardiac performance was maintained.
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PMID:Chronic ventricular pacing with ventriculo-atrial conduction versus atrial pacing in three patients with symptomatic sinus bradycardia. 617 83

Persistent elevation of the intestinal fraction of the alkaline phosphatase (API) as an isolated finding has to our knowledge not been reported previously. It was found in a boy followed during a period of 5.5 years. The only symptom was transient periodic fatigue observed at home, but not apparent during hospitalization. His blood type was O, RH+, Le (a-, b+) and he was a secretor of H-substance, which may be associated with rising API activity after fat-loading. In this case API was unchanged after fat-loading. Neither intestinal nor liver diseases were found, and no other cause for the elevated phosphatase activity could be demonstrated.
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PMID:Persistently increased intestinal fraction of alkaline phosphatase. 646 33

A 43-year-old man was admitted to our clinic because of a 2-month history of anorexia, general fatigue and an upper abdominal mass. Upper GI series and endoscopic examination revealed Borrmann IV-type gastric cancer. The histologic diagnosis was undifferentiated adenocarcinoma. His peripheral blood contained approximately 3% atypical lymphocytes. These lymphocytes were identified to be ATL-cell based on E-rosette formation assays and anti-ATL associated antigen-antibody tests. Although the patient had no typical ATL-symptoms, we made a diagnosis of double cancer, i.e. gastric cancer and smouldering ATL. This is the first reported Japanese case of gastric cancer associated with smouldering ATL relationship between gastric carcinoma and other malignant diseases, especially ATL, is discussed.
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PMID:[A case of advanced gastric cancer associated with smouldering adult T-cell leukemia (ATL)]. 660 52


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