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)

Of 209 patients who fulfilled the A.R.A. criteria for the diagnosis of systemic lupus erythematosus, 43 were selected for study because each had been treated for at least two years with antimalarials, but had not received antimalarials for at least one subsequent year. In each instance, the antimalarial was discontinued solely because of the development of retinopathy. Each year on antimalarials was matched with a subsequent year off antimalarials for each patient. The year immediately following diagnosis and years of pregnancy were excluded. Paired-t test analysis of matched years revealed that general symptoms (fever, fatigue, weight loss) were less common during years on 500 mg chloroquine daily than during years off the drug (p less than 0.05). Skin manifestations were also less frequent during the years on 500 mg chloroquine daily than during the years off (p less than 0.05). No significant steroid sparing effect was found. However, a greater incidence of flare-ups during the matched years off the drug was statistically significant.
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PMID:The efficacy of antimalarials in systemic lupus erythematosus. 110 84

The case of a young woman with a rare syndrome of acute encephalopathy followed by deafness and retinopathy developing over 1 year is reported. Unlike previously described similar cases, she had considerable systemic symptoms and signs including polyarthralgia-arthritis, diffuse myalgia, malar rash, livedo reticularis, night sweats, and fatigue suggestive of systemic lupus erythematosus. However, results of most immunological investigations were repeatedly normal, including antinuclear antibodies. Anticardiolipin antibodies were elevated on one occasion. Cyclophosphamide has been the most effective treatment for exacerbations of the disease, which have continued to occur over 6 years. This microangiopathic syndrome more likely relates to an immunologically mediated vasculitis of small blood vessels than to a thromboembolic etiology.
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PMID:Microangiopathy with retinopathy, encephalopathy, and deafness (RED-M) and systemic features. 178 49

A 45-year-old man with polyclonal hypergammaglobulinemia (gamma globulins, 102 g/L) had a serum relative viscosity of 13 nu but did not manifest clinical signs of hyperviscosity syndrome (e.g., retinopathy, bleeding diathesis, and neurological alterations), except for fatigue and anorexia. In contrast with other patients with polyclonal hyperviscosity reported so far, this patient did not have detectable rheumatoid factor in serum. Analytical ultracentrifugation of his serum showed aggregates of polyclonal IgG3 of various sizes (between 10 and 36 S). The serum also contained immune complex-like material, as demonstrated by the Raji cell immunoradiometric assay and the C1q solid-phase enzyme immunoassay.
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PMID:Polyclonal gammopathy with marked increase in serum viscosity. 191 85

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

One of the longest-running controversies in medicine concerns the aims of diabetes treatment. The question debated for 80 years has been whether the clinician should just relieve symptoms, or try to achieve the much more difficult objective of near-physiological normality as measured by an absence of glycosuria and/or normal blood sugar levels. At the beginning of World War One, most clinicians and physiologists thought the severity of diabetes was inversely proportional to the number of functioning islets of Langerhans. Hyperglycaemia, it was hypothesized, stressed the surviving islets and led to a downward spiral of increasing glandular fatigue and hyperglycaemia. The aim of undernutrition was to rest the damaged tissue in the hope of promoting a return of functional efficiency and possibly regeneration. Most experts stressed that rest of the islets could only be achieved by abolishing glycosuria and restoring normal blood sugar levels. The first clinical use of insulin in 1922 led to astonishing improvements in the health and strength of patients with diabetes and the concept of pancreatic rest seemed to be confirmed when some regained such carbohydrate tolerance that after weeks or months they could reduce the dose of insulin without developing glycosuria. Initially there were expectations that insulin would allow the islets of Langerhans to recover completely, so that diabetes was cured. Most physicians insisted that the best chance of preserving what pancreatic function remained was biochemical normality. It was also contended that patients who had normal blood sugar levels were more healthy than those without and had fewer 'complications'. The complications in question were mainly infective, since specific diabetic tissue damage was not recognized until the late 1930s. The toll of microvascular complications (retinopathy and nephropathy) in those whose lives had been saved by insulin did not become apparent until the late 1930s and early 1940s, when it generated an often acrimonious debate about whether they were due to the metabolic disorder or an associated phenomenon. Liberalization of diet in patients taking insulin began in 1926 and by 1930 it was clear that patients who were prescribed 200 g of carbohydrate per day felt better and more energetic than those on the old regimens of 50 g or less per day. Even these more liberal diets were measured but, in the early 1930s some paediatricians, feeling that a strict measured diet was psychologically damaging, experimented with 'free' or unmeasured diets.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:The quest for normoglycaemia: a historical perspective. 795 85

Sight threatening ocular complications are rare in adult patients with dermatomyositis. We encountered a 52-year-old female with dermatomyositis who had severe visual disturbance and rapidly progressive intersitial pneumonia. She was admitted to our hospital because of skin erythema, general fatigue, mild fever, and severe bilateral visual disturbance. Rentinal hemorrhages, cotton wool spots, and macular edema were observed in her fundus at the first ophthalmic examination. A diagnosis of dermatomyositis was made because of the myogenic pattern of her electromyogram, elevation of serum creatine kinase, and skin lesions. Oral prednisolone treatment was started and the retinopathy was improved, but was complicated by acute interstitial pneumonia. The interstitial pneumonia was not respond to steroid pulse therapy with methylprednisolone, and the patient died of respiratory failure on the 47th day after the onset of visual symptoms. In adult dermatomyositis patients, the complication of severe retinopathy should be considered as a risk factor for rapid progress of interstitial pneumonia.
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PMID:[A case of dermatomyositis with severe retinopathy in a patient who died of acute interstitial pneumonia]. 917 Aug 52

The present study is an evaluation of the quality of life of 32 patients following successful pancreatic transplantation. These patients were studied at from 6 months to 5 years post-transplantation. Over one-half of them were beyond the 21/2-yr mark. A questionnaire was developed that focused on symptoms of neuropathy, enteropathy, and retinopathy. All of the patients evaluated had completely normal carbohydrate metabolism, as evidenced by normal fasting blood sugars and hemoglobin A1C levels. Twenty-one of the 32 patients had symptomatic neuropathy pre-operatively, and 11 of these reported substantial subjective improvement. Eight remained unchanged and 2 became worse. Twenty-four patients had symptoms of enteropathy and 23 noted improvement post-transplantation. Retinopathy symptoms were not improved, but there was a suggestion that after 3 or 31/2 yr progression did not occur as rapidly as earlier. Virtually all of the patients had mood improvements and considerably less fatigue. We have determined that the risk of the procedure when receiving simultaneous renal and pancreas grafts is not significantly greater than that associated with a kidney transplant alone. Patients who are not uremic, either those with a successful kidney graft or those preuremic patients, are better candidates if symptoms are present. The risk of immunosuppression is insignificant in those patients who already have a successful renal transplant and are already on immunosuppressant drugs. Pancreatic transplantation can substantially improve the quality of life in diabetic patients, and should be considered as a therapeutic measure.
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PMID:Quality of life in diabetic recipients of kidney transplants is better with the addition of the pancreas. 1014 30

Diabetes mellitus, caused by the malfunction of insulin-dependent glucose and lipid metabolism, presents with the classical triad of symptoms: polydypsia, polyuria, and polyphagia which are often accompanied by chronic fatigue and loss of weight. Complications of diabetes mellitus include retinopathy, nephropathy, neuropathy, and cardiovascular disease. Periodontal diseases are infections affecting the periodontium and resulting in the loss of tooth support. The association between diabetes mellitus and periodontitis has long been discussed with conflicting conclusions. Both of these diseases have a relatively high incidence in the general population (diabetes 1% to 6% and periodontitis 14%) as well as a number of common pathways in their pathogenesis (both diseases are polygenic disorders with some degree of immunoregulatory dysfunction). On the one hand, numerous reports indicate a higher incidence of periodontitis in diabetics compared to healthy controls, while other reports fail to show such a relationship. Clarification of this dilemma is occurring as the diagnostic criteria for periodontitis and diabetes mellitus improve, controlled studies with increased sample sizes are carried out, and the studies take into account major confounding variables that impact on the pathogenesis of both diseases. Current studies tend to support a higher incidence and severity of periodontitis in patients with diabetes mellitus. The overview looks at the bidirectional relationship between periodontitis and diabetes. An analysis of the National Health and Nutrition Examination Survey (NHANES) III data set confirms the previously reported significantly higher prevalence of periodontitis in diabetics than in non-diabetics (17.3% versus 9%). The analysis of the data also shows that the prevalence of diabetes in patients with periodontitis is double that seen in the non-periodontitis patients (12.5% versus 6.3%) and that this difference is also statistically significant. The pathogenesis of the 2 diseases is reviewed with an emphasis on common genetic and immune mechanisms. On the basis of the overview, 2 hypotheses for testing the relationship between periodontitis and diabetes are discussed. The first proposes a direct causal or modifying relationship in which the hyperglycemia and hyperlipidemia of diabetes result in metabolic alterations that may then exacerbate bacteria-induced inflammatory periodontitis. The second hypothesis proposes that a fortuitous combination of genes (gene sets) could result in a host who, under the influence of a variety of environmental stressors, could develop either periodontitis or diabetes or both.
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PMID:The relationship between periodontal diseases and diabetes: an overview. 1188 77

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63

Anemia is more common in patients with diabetes than without diabetes, and the problem is magnified in patients with renal impairment. Diabetic patients with anemia may be at increased risk of adverse outcomes from diabetic retinopathy, nephropathy, neuropathy, and cardiovascular disease. The etiology of anemia in diabetes is multifactorial and includes inflammation, nutritional deficiencies, concomitant autoimmune diseases, drugs, and hormonal changes in addition to kidney disease. Anemia that is associated with erythropoietin deficiency may have prognostic significance for persons with nephropathy or heart failure. In early diabetic nephropathy, damage to the peritubular fibroblasts can occur and lead to erythropoietin deficiency and anemia prior to the loss of filtration. Correction of the anemia not only leads to less fatigue, greater exercise tolerance, and an improved quality of life but also to a reduction in mortality and hospital admissions for congestive heart failure (CHF). Data are accumulating that suggest that treatment of anemia will slow the progression of microvascular and macrovascular complications, including postural hypotension from autonomic neuropathy, retinopathy, and loss of renal function from diabetic nephropathy. Promptly diagnosing and treating anemia in patients with diabetes may result in an improved quality of life and decreased morbidity and mortality.
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PMID:Anemia and the role of erythropoietin in diabetes. 1679 79


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