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)

Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset adrenal hypoplasia congenita caused by the premature truncation of the C-terminus of the DAX-1 molecule, which is essential for its function as a transcriptional repressor. A 12-year-old boy was referred to us after being afflicted with generalized skin pigmentation for about 3 years, fatigue and headache. Primary adrenal insufficiency was determined on the basis of a low plasma cortisol level (3.9 microg/dl) despite an extremely high ACTH level (1200 pg/ml). Replacement therapy with hydrocortisone and fludorocortisone acetate was initiated soon thereafter. Hypogonadotropic hypogonadism was confirmed at the age of 18 years, at which time sexual infantilism had become apparent. Direct sequencing of the peripheral lymphocyte-derived DNA revealed a novel 1033del13 mutation on the ligand-binding domain of the NR0B1 (DAX-1) gene, which generated a premature stop codon truncating the C-terminus. This mutation was considered de novo since we could not find it in his mother. This case demonstrates that even a truncated protein lacking the major functional domain of DAX-1 can present late-onset and latent adrenal failure.
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PMID:Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. 1860 30

There are only a few reports on the effect of statins over diseased muscle and none in cytoplasmic body myopathy. This is a heterogeneous entity that can be asymptomatic until late in life and is characterized by the presence of numerous cytoplasmic bodies in muscle biopsy. A 74-years-old male received statin treatment on two separate occasions, first with sinvastatin and afterwards with rosuvastatin. In both cases, he experienced diffuse myalgia, lower limbs weakness and respiratory fatigue and improved after interruption of each treatment course. Electromyography has shown signs of muscle necrosis, serum creatine kinase (CK) concentration was increased and muscle biopsy revealed numerous cytoplasmic bodies. To our knowledge this is the first report of statin-related muscle necrosis in a patient with CBM. According to the literature neuropathological features of statin myopathy do not include the presence of cytoplasmic bodies so we assume that cytoplasmic body myopathy was asymptomatically present before statin treatment. This case supports the role of muscle biopsy in patients that develop muscular necrosis while on statin treatment.
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PMID:A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin. 1908 4

Depression and fatigue are common symptoms of multiple sclerosis and are the primary determinants of impaired quality of life in this demyelinating neurological disease. The twelve-month prevalence of major depression in patients with multiple sclerosis is around 15%. Untreated depression is associated with suicidal ideation, impaired cognitive function and poor adherence to immunomodulatory treatment. For these reasons, systematic screening and management of depressive symptoms is recommended for all patients with multiple sclerosis. There is some evidence that interferon-beta treatment may exacerbate depressive symptoms and a switch to glatiramer acetate can be envisaged in patients treated with an interferon-beta in whom depressive symptoms become an issue. Fatigue is present in over three-quarters of patients with multiple sclerosis. It is considered the most debilitating symptom of the disease and is a major reason for work absenteeism. There is growing evidence that immunomodulatory treatments, in particular glatiramer acetate, improve fatigue symptoms in patients with multiple sclerosis.
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PMID:Multiple sclerosis beyond EDSS: depression and fatigue. 1920 Aug 65

This review will update current views of the physiopathology and treatment of fatigue in multiple sclerosis. Fatigue is a common symptom in multiple sclerosis, being reported by about a third of the patients. For many of them it is the most disabling symptom, with negative consequences on working activity and daily life. There are no objective measures of fatigue which is essentially based on subjective complaints. Even if fatigue may be influenced by motor disturbances and depression, it is largely independent from both. Peripheral mechanisms, such as muscular disuse and deconditioning, joint abnormalities and metabolic changes of muscular fibers, have very little role in multiple sclerosis fatigue. All the available data indicate that fatigue is a 'central' phenomenon, due to multiple causes. Neurophysiological studies revealed an impairment of volitional drive to the descending motor pathways and functional imaging studies fund a selective involvement of frontal cortex and basal ganglia. Therefore, a dysfunction of the circuits between thalamus, basal ganglia and frontal cortex, affected by the multiple sclerosis lesions and/or disturbed in their function by the products of inflammation could be the substrate of fatigue. No specific treatments are available - management strategies include medications, exercise and behavioral therapy - in most cases a combined approach is suitable. Enhancers of vigilance, like amantadine and modafinil, were shown to be effective in class I and II trials, however their effects are modest. Aminopyridines may indirectly influence fatigue by reducing nerve conduction block in motor fibers. Some recent studies suggest the positive effects of drugs on fatigue may be via reducing the inflammatory activity, such as for glatiramer acetate.
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PMID:Assessment, pathophysiology and treatment of fatigue in multiple sclerosis. 1981 Sep 20

Multiple sclerosis is diagnosed primarily in young adults with aspirations for both family and careers. For this reason, it is important to take into account the potential impact of disease and treatment on these aspirations, which relate to quality of life. Quality of life evaluations and measurements have now become an integral part of comprehensive care for multiple sclerosis patients. Moreover, quality of life endpoints are now included in most therapeutic trials of potential new treatments, as well as in observational studies of the management of multiple sclerosis. The scope of quality of life includes self-perceived status in three important domains of life, namely physical (e.g. disability, strength), psychological (e.g. depression, fatigue) and social functioning (e.g. employment, usual daily activities). A number of studies have demonstrated a positive impact on quality of life of treatment with glatiramer acetate in the above areas. Several of these included direct comparisons between glatiramer acetate and interferon-beta. it is important that quality of life issues are addressed at the outset by patients and professionals, and taken into account when choosing the most appropriate therapy for a given individual.
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PMID:Health and quality of life in patients with relapsing multiple sclerosis: making the intangible tangible. 2010 42

An 82-year-old woman was admitted to the hospital with dyspnea and fatigue. She had been given amlodipine, furosemide, candesartan, pravastatin and roxatidine acetate for two months in an other hospital. Chest CT showed patchy consolidations throughout the entire lungs. We suspected drug-induced pneumonia, and treated her with prednisolone under mechanical ventilation. The pulmonary consolidations eventually improved, but on the 15th hospital day the patient developed thrombocytopenia and disseminated intravascular coagulation (DIC). Heparin flushes had been performed since the first hospital day. After these were stopped, her platelet count became normal and the patient recovered from DIC. The clinical course, and the fact that testing for heparin-induced thrombocytopenia (HIT) antibodies was positive, supported the diagnosis of HIT and DIC. We report a rare case of HIT and DIC during treatment for drug-induced pneumonia.
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PMID:[Heparin-induced thrombocytopenia and disseminated intravascular coagulation in a patient with drug-induced pneumonia]. 2018 49

Palliative care ought to be offered at the initiation of treatment for people who are diagnosed with pancreatic cancer, given the poor relative survival rate and the intractable symptom profile of those who have this life-limiting disease. In this article, we argue that palliative treatment of people with pancreatic cancer is not found in extending survival, but rather, in promoting quality of life. This argument is made by reviewing the literature on the state of palliative care in pancreatic cancer and by summarizing key studies presented at the "2010 ASCO Gastrointestinal Cancers Symposium" held in Orlando, FL, USA on January 22-24, 2010. The studies discussed here include: i) a study of a random sample of 564 patients with pancreatic cancer that found that the symptom cluster of fatigue and pain predicted survival (Abstract #265); ii) a retrospective study of 108 patients that identified anticoagulation therapy in those who developed portal vein thrombosis prolonged survival (Abstract #143); iii) a double-blind randomized control trial of 50 patients with gastrointestinal cancers who were cachexic in which a thalidomide-olanzapine-megasterol acetate combination attenuated the effects of cancer-anorexia-cachexia syndrome (Abstract #209); iv) a retrospective study on the role of adjuvant chemoradiation and chemotherapy in the treatment of advanced pancreatic cancer (Abstract #230); and v) the benefit of chemotherapy in patients with metastatic pancreatic cancer 80-year-old or more (Abstract #232). Based on the results presented at the meeting, we believe that the discussion of palliative care in the treatment of advanced pancreatic cancer must not conflate the notion of increased survival with increased quality of life, the latter of which is part and parcel of the goal of palliative care. We believe that future study on the effect on quality of life of early palliative-care interventions among people with pancreatic cancer is necessary.
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PMID:Palliative care from the beginning of treatment for advanced pancreatic cancer. Highlights from the "2010 ASCO Gastrointestinal Cancers Symposium". Orlando, FL, USA. January 22-24, 2010. 2020 26

Partial epilepsy comprises simple partial seizures, complex partial seizures, and secondarily generalized seizures, and covers more than 60% of patients with epilepsy. Antiepileptic drugs are generally considered to be the major therapeutic intervention for epilepsy but, despite a broad range of commonly used antiepileptic drugs, approximately 30% of adult patients and approximately 25% of children with epilepsy have inadequate seizure control. Eslicarbazepine acetate (ESL) is a novel voltage-gated sodium channel-blocking agent with presumed good safety and efficacy for adjunctive treatment of patients with drug-resistant partial epilepsy. ESL is a prodrug of eslicarbazepine (the active entity responsible for pharmacologic effects), and is rapidly and extensively hydrolyzed during first pass by liver esterases after oral administration. The half-life of eslicarbazepine at steady-state plasma concentrations is 20-24 hours, compatible with once-daily administration. ESL 800 mg and 1200 mg significantly reduces seizure frequency and shows a favorable safety profile in adult patients with drug-resistant partial-onset seizures, as demonstrated in previous Phase II and III trials. In children, ESL showed a clear dose-dependent decrease in seizure frequency with good tolerability. The most commonly reported adverse events associated with ESL are dizziness, somnolence, nausea, diplopia, headache, vomiting, blurred vision, vertigo, and fatigue. In conclusion, these characteristics suggest that ESL might be a valid and well tolerated treatment option for patients with drug-resistant partial-onset epilepsy. The convenience of once-daily dosing and a short, simple titration regimen would be of special interest for children, although conclusive published data are lacking to date. Hence, there is an urgent need to establish the therapeutic value of ESL in this special population in the near future.
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PMID:Update on treatment of partial onset epilepsy: role of eslicarbazepine. 2112 91

The present investigation envisages the toxic effects of aluminium on the cholinergic system of male albino rat brain. Aluminium toxicity (LD(50)/24 h) evaluated as per Probit method was found to be 700 mg/kg body weight. One-fifth of lethal dose was taken as the sublethal dose. For acute dose studies, rats were given a single lethal dose of aluminium acetate orally for one day only and for chronic dose studies, the rats were administered with sublethal dose of aluminium acetate once in a day for 25 days continuously. The two constituents of the cholinergic system viz. acetylcholine and acetylcholinesterase were determined in selected regions of rat brain such as cerebral cortex, hippocampus, hypothalamus, cerebellum, and pons-medulla at selected time intervals/days under acute and chronic treatment with aluminium. The results revealed that while acetylcholinesterase activity was inhibited, acetylcholine level was elevated differentially in all the above mentioned areas of brain under aluminium toxicity, exhibiting area-specific response. All these changes in the cholinergic system were subsequently manifested in the behavior of rat exhibiting the symptoms such as adipsia, aphagia, hypokinesia, fatigue, seizures, etc. Restoration of the cholinergic system and overt behavior of rat to the near normal levels under chronic treatment indicated the onset of either detoxification mechanisms or development of tolerance to aluminium toxicity in the animal which was not probably so efficient under acute treatment.
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PMID:Cholinergic system under aluminium toxicity in rat brain. 2117 Feb 57

An 85-year-old woman, who had been given a diagnosis of myelodysplastic syndrome with refractory anemia 2 years previously and required blood transfusion once a month, was admitted with complaints of fever, general fatigue, and dry cough. A chest X-ray film showed multiple small nodules in bilateral lung fields which were not observed 1 month previously. Although smear and culture tests for acid-fast bacilli in her bronchoalveolar lavage fluid, urine, and bone marrow aspiration fluid were all negative, miliary tuberculosis was strongly suspected. Antituberculosis drugs were administered, but neither her symptoms nor chest X-ray findings improved. Five months later, right oculomotor nerve palsy, followed by left abducens nerve paralysis occurred. Lumber puncture examination revealed lymphocytosis, and increased protein and ACE levels, suggesting neurosarcoidosis. A transbronchial lung biopsy specimen demonstrated non-caseating epithelioid granulomas. Oral administration of 30 mg/day prednisolone improved her symptoms as well as the chest X-ray findings.
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PMID:[Case of sarcoidosis with myelodysplastic syndrome in an elderly woman]. 2122 1


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