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)

In end stage neuromuscular disease respiratory muscle fatigue can lead to respiratory failure. There is no close correlation between the degree of peripheral muscle weakness and the weakness of the respiratory muscles. Early in the disease the maximum in- and expiratory pressures can be abnormal even though the results of spirometry are normal. Progressive weakness of the respiratory muscles results in a decrease in vital capacity and eventually in alveolar hypoventilation, especially during sleep. General muscle weakness and fatigue may be the reasons why sleep hypoventilation is often overlooked in its early stages. Dyspnea may be a early symptom but it is not unusual that alveolar hypoventilation remains undetected until complications ensue (Cor pulmonale, polycythemia, altered alertness).
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PMID:[Pathophysiology of respiratory insufficiency in neuromuscular diseases]. 227 8

The aim of this paper is to review clinical and laboratory features of this unusual pathology and its complications, indicating transcatheter embolization as a first choice for its management. Our case report is of a seven year-old child, with complex pulmonary arteriovenous fistula of the anterior segment of right superior lobe, which was diagnosed mainly by cintilography and pulmonary angiogram. Clinically she had cyanosis, fatigue with exertion, clubbing of the fingers and polycythemia with low partial pressure of oxygen (PAO2: 68.1 mmHg; Sat O2: 92.4%; Hct: 47.5%; Hb: 16 gr%). She did not have Rendu-Osler-Weber disease. The anatomic structure and localization of the complex fistula was showed by cineangiographic study. We preferred to manage this fistula with transcatheter embolization with a 02 gauge stainless steel coil occluding device (Gianturco-Wallace), as it was single and the patient was too young for sustain surgical trauma and the outcome would be positively satisfactory. After the embolization cyanosis was relieved and we could see normal pulmonary circulation following the point of the pre-existing fistula. We concluded that a judicious assessment by cineangiography could help select the transcatheter embolization procedure as an attractive therapeutic approach instead of surgery.
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PMID:[Pulmonary arteriovenous fistula. A case report and review of the literature]. 269 20

A case of multiple pulmonary arteriovenous fistulas is reported. Hereditary hemorrhagic telangiectasia is a characteristic associated finding, and in this instance affected 10 members of the patient's family over four generations. This association suggests that the pulmonary condition in its congenital form is part of a generalized vascular dysplasia. Clinically, the patient experienced increased dyspnea and fatigue but cyanosis and polycythemia were not noted. After surgical excision of the fistula with conservation of as much pulmonary tissue as possible, prompt relief of symptoms was obtained. Furthermore, angiographic studies revealed that the small fistulas in the other lung did not enlarge. The presence of multiple fistulas is not a contraindication to surgery, and such fistulas should be excised to improve the patient's condition and prevent further complications.
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PMID:[Pulmonary arteriovenous fistula]. 590 11

In a series of 16294 autopsies 350 cases of renal cell carcinoma were found. Of these tumours 235, i.e. two thirds, were unrecognized during lifetime. Metastatic spread was revealed in 56 patients (24%) with unrecognized renal cell carcinoma and was the main cause of death of 49 patients (21%). In 67 patients (33%) a second malignant tumour was observed causing the death of 47 patients (20%). Most patients died with rather than from the renal malignancy. The symptomatology as to the renal malignancy was generally poor. Haematuria, palpable mass, polycythemia and fever of unknown origin were less common findings in the present series as compared with fatigue, loss of weight and symptoms from metastatic sites.
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PMID:Unrecognized renal cell carcinoma. Clinical and diagnostic aspects. 732 50

A 60-year-old Japanese woman was admitted to our hospital because of fatigue, weight loss and abdominal distension. Myelofibrosis was diagnosed, based on anemia, huge hepatosplenomegaly, leukoerythroblastosis and bone marrow fibrosis. Following treatment with ranimustine, anemia and splenomegaly improved. Seven months after initial therapy of ranimustine, however, polycythemia (RBC 7.39 x 10(6)/microliter; Hb 19.1 g/dl, Ht 65.9%) developed gradually, then RBC decreased to normal level following venesection (total 1,200 ml). After 32 months, blastic transformation occurred. The blasts were negative for myeloperoxidase. By flow cytometric analysis, the cells were positive for CD2, CD13, CD33 and HLA DR. Thus, AML (M0) was diagnosed. Despite of treatment with multicytotoxic agents, she died of DIC 36 months after the initial diagnosis of myelofibrosis. The progression from myelofibrosis to polycythemia is rare and only 15 cases have been reported so far. In addition, although a chromosomal abnormality, 46, XX, t(3; 12) (q25; p11), was present at the time of first diagnosis of myelofibrosis, the development of an additional abnormality, del(11) (q-), might be related to the transformation to AML.
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PMID:[A case of myelofibrosis that developed polycythemia vera following treatment with ranimustine and then acute myelogenous leukemia (M0)]. 882 83

Ectopic production of biologically active glycoprotein hormones other than hCG has been reported in exceptional cases. A 61-yr-old man came to our Unit complaining of weakness, fatigue and reduced libido with erectile dysfunction. There was also a history of polycythemia, known for about 10 yr and never further investigated. The physical examination showed acne and redness of facial skin and upper chest; no other significant abnormalities were detected. Serum levels of LH were very high, whereas alpha-subunit and hCG were only slightly increased. Testosterone and 17beta-estradiol levels were increased too. Abdominal computed tomography (CT) scan revealed a large hypervascularized mass within the pancreatic tail, which was surgically removed by distal splenopancreatectomy. Diffuse immunoreactivity for LH was detected in more than 70% of the tumor cells. The alpha-subunit was also positive, while chorionic gonadotropin had only a focal reactivity. Reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern Blot analysis confirmed the synthesis of LH by the tumor. Four weeks after surgery, serum levels of LH, alpha-subunit, testosterone, hCG and 17beta-estradiol were all undetectable. The redness of facial skin and upper chest had disappeared, but libido was still reduced. At a further control, 3 months after surgery, serum levels of LH, FSH, hCG, alpha-subunit and 17beta-estradiol were all within the normal range, as well as hemoglobin concentration and the red blood cells count. Testosterone was slightly below normal, but the patient reported an increase of libido. This is an unusual case of ectopic secretion of LH from an endocrine tumor of the pancreas.
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PMID:Ectopic secretion of LH by an endocrine pancreatic tumor. 1523 57

Erythropoietin (Epo)-induced polycythemia is the main factor of adaptation to hypoxia. In this study, we analysed the effects of Epo deficiency on intrinsic functional properties of slow and fast twitch muscles in a model of erythropoietin deficient mice (Epo-TAg(h)) exposed to hypoxia. We hypothesised that Epo deficiency would be deleterious for skeletal muscle structure and phenotype, which could change its functional properties and alters the adaptive response to ambient hypoxia. Wild-type (WT) and Epo-TAg(h) mice were left in hypobaric chamber at 420 mm Hg pressure for 14 days. Soleus (SOL) and extensor digitorum longus (EDL) were analysed in vitro by mechanical measurements, immunohistological and biochemical analyses. The results were compared to those obtained in corresponding muscles of age-matched normoxic groups. Our data did not show any difference between the groups whatever the Epo deficiency and/or hypoxic conditions for twitch force, tetanic force, fatigue, typology and myosin heavy chain composition. Normoxic Epo-TAg(h) mice exhibit improved capillary-to-fibre ratio compared to WT mice in both SOL and EDL whereas no angiogenic effects of hypoxia or combined Epo-deficiency/hypoxia were observed. These results suggest that skeletal muscles possess a great capacity of adaptation to Epo deficiency. Then Epo deficiency is not a sufficient factor to modify intrinsic functional properties of skeletal muscles.
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PMID:Skeletal muscle intrinsic functional properties are preserved in a model of erythropoietin deficient mice exposed to hypoxia. 2011 84

The myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and myelofibrosis, are distinguished by their debilitating symptom profiles, life-threatening complications and profound impact on quality of life. The role gender plays in the symptomatology of myeloproliferative neoplasms remains under-investigated. In this study we evaluated how gender relates to patients' characteristics, disease complications and overall symptom expression. A total of 2,006 patients (polycythemia vera=711, essential thrombocythemia=830, myelofibrosis=460, unknown=5) were prospectively evaluated, with patients completing the Myeloproliferative Neoplasm-Symptom Assessment Form and Brief Fatigue Inventory Patient Reported Outcome tools. Information on the individual patients' characteristics, disease complications and laboratory data was collected. Consistent with known literature, most female patients were more likely to have essential thrombocythemia (48.6% versus 33.0%; P<0.001) and most male patients were more likely to have polycythemia vera (41.8% versus 30.3%; P<0.001). The rate of thrombocytopenia was higher among males than females (13.9% versus 8.2%; P<0.001) and males also had greater red-blood cell transfusion requirements (7.3% versus 4.9%; P=0.02) with shorter mean disease duration (6.4 versus 7.2 years, P=0.03). Despite there being no statistical differences in risk scores, receipt of most therapies or prior complications (hemorrhage, thrombosis), females had more severe and more frequent symptoms for most individual symptoms, along with overall total symptom score (22.8 versus 20.3; P<0.001). Females had particularly high scores for abdominal-related symptoms (abdominal pain/discomfort) and microvascular symptoms (headache, fatigue, insomnia, concentration difficulties, dizziness; all P<0.01). Despite complaining of more severe symptom burden, females had similar quality of life scores to those of males. The results of this study suggest that gender contributes to the heterogeneity of myeloproliferative neoplasms by influencing phenotypic profiles and symptom expression.
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PMID:Associations between gender, disease features and symptom burden in patients with myeloproliferative neoplasms: an analysis by the MPN QOL International Working Group. 2754 Jan 37

Cobalt metallosis after revision metal-on-polyethylene total hip arthroplasty for catastrophic failure of ceramic components is uncommon but a potentially devastating complication. Common findings associated with heavy metal toxicity include cardiomyopathy, hypothyroidism, skin rashes, visual disturbances, hearing changes, polycythemia, weakness, fatigue, cognitive deterioration, and neuropathy. We report a case of a 57-year-old woman who presented with complaints of progressively worsening hip pain, fatigue, memory loss, lower extremity sensory loss, persistent tachycardia, and ocular changes 5 years after synovectomy and revision of a failed ceramic-on-ceramic total hip arthroplasty to metal-on-polyethylene components. A cobalt level of 788.1 ppb and chromium level of 140 ppb were found on presentation and subsequently decreased to 468.8 ppb and 105.9 ppb, respectively, 2 weeks after revision to a ceramic-on-polyethylene total hip arthroplasty. Improvement of symptoms accompanied this decrease in cobalt and chromium levels. Revision of failed ceramic arthroplasties with later-generation ceramics to avoid this potential complication is recommended.
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PMID:Cobalt toxicity after revision to a metal-on-polyethylene total hip arthroplasty for fracture of ceramic acetabular component. 2832 80

Testosterone therapy is increasingly common in the United States, and many of these prescriptions are written by primary care physicians. There is conflicting evidence on the benefit of male testosterone therapy for age-related declines in testosterone. Physicians should not measure testosterone levels unless a patient has signs and symptoms of hypogonadism, such as loss of body hair, sexual dysfunction, hot flashes, or gynecomastia. Depressed mood, fatigue, decreased strength, and a decreased sense of vitality are less specific to male hypogonadism. Testosterone therapy should be initiated only after two morning total serum testosterone measurements show decreased levels, and all patients should be counseled on the potential risks and benefits before starting therapy. Potential benefits of therapy include increased libido, improved sexual function, improved mood and well-being, and increased muscle mass and bone density; however, there is little or mixed evidence confirming clinically significant benefits. The U.S. Food and Drug Administration warns that testosterone therapy may increase the risk of cardiovascular complications. Other possible risks include rising prostate-specific antigen levels, worsening lower urinary tract symptoms, polycythemia, and increased risk of venous thromboembolism. Patients receiving testosterone therapy should be monitored to ensure testosterone levels rise appropriately, clinical improvement occurs, and no complications develop. Testosterone therapy may also be used to treat hypoactive sexual desire disorder in postmenopausal women and to produce physical male sex characteristics in female-to-male transgender patients.
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PMID:Testosterone Therapy: Review of Clinical Applications. 3157 57


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