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)

Cryptococcal meningitis is a rare disease. It may occur as a superinfection in AIDS patients or other immunosuppressed patients. We describe a case of cryptococcal meningitis in a non-immunosuppressed patient. Initial symptoms were fatigue, depression and headache. A correct diagnosis was made after two weeks based on microscopic examination of cerebrospinal fluid. The patient died after six days on antimycotic therapy. Cryptococcosis is a difficult diagnosis, as our case illustrates. Psychiatric symptoms are often the first clinical manifestations. Early diagnosis is crucial for the outcome. A short overview on cryptococcosis is given.
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PMID:[Cryptococcal meningitis in a patient without known predisposing disease]. 1052 79

Cortisol resistance (CR) is a rare disease characterized by a generalized reduced sensitivity of end-organs to the actions of glucocorticoids (GCs). GC effects are mediated by the GC receptor (GR). The molecular alterations in CR described thus far were located in the hormone-binding domain of the GR gene. Recent reports of a considerable prevalence of abnormalities in the GR in patients attending the endocrine clinic prompted us to carry out further investigations with respect to GR protein and GR gene in patients attending the endocrine clinic for a broad spectrum of complaints and biochemical evidence suggesting a CR. In the present study, we describe five patients with biochemical and clinical CR. All patients showed a diurnal rhythm of serum cortisol concentrations (albeit at a high level), an insufficient suppression of serum cortisol concentration in reaction to 1 mg dexamethasone (DEX), and variable degrees of androgen overproduction, in the absence of clinical signs and symptoms of Cushing's syndrome. Three of the four female patients presented with complaints of androgen overproduction, two of them in combination with fatigue. The other female patient had severe steroid-resistant asthma. The only male patient and his son were asymptomatic. In four patients, we investigated receptor protein characteristics on mononuclear leukocytes in a whole cell DEX binding assay and studied the ability of DEX to inhibit mitogen-induced cell proliferation in mononuclear leukocytes in vitro. In all patients investigated, we found alterations in receptor number or ligand affinity and/or the ability of DEX to inhibit mitogen-induced cell proliferation. To investigate the molecular defects leading to the clinical and biochemical pictures in these patients, we screened the GR gene using PCR/single-strand conformational polymorphism/sequence analysis. No GR gene alterations were found in these patients. In conclusion, the five patients described had clinical and biochemical evidence of CR, but no abnormalities were demonstrated in the GR gene. Probably, as yet undefined alterations somewhere in the cascade of events starting with ligand binding to the GR protein, and finally resulting in the regulation of the expression of GC responsive genes, or postreceptor defects or interactions with other nuclear factors form the pathophysiologic basis of CR in these patients.
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PMID:Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. 130 33

Constrictive pericarditis is a rare disease with an often unclear etiology. There may be a long delay between the onset of the underlying disease and the onset of clinical symptoms, which are fatigue, abdominal swelling, peripheral edema and breathlessness. However, if clinically apparent, these symptoms may progress rapidly and severely disable the affected patient. Diagnosis is achieved by the clinical presentation, echocardiography and/or MRI and right heart catheterization. The standard therapy is an extended pericardiectomy to restore an unlimited inflow and outflow as well as an unrestricted diastolic function of both ventricles. The risks of this procedure are related to dense adhesions between the 2 pericardial layers and severe calcifications especially of the epicardium. Incomplete removal results in persistent diastolic restriction while lacerations of the underlying myocardium may lead to diffuse and extensive bleeding and finally to myocardial dysfunction. Also, the postoperative course may be complicated by persistent low output syndrome or acute ventricular dilatation. However, early surgical intervention in the hands of experienced surgeons offers the best prognosis.
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PMID:Indications, results, and pitfalls in the surgery of constrictive pericarditis. 1120 Jan 29

Kikuchi-Fujimoto disease is a rare disease first described in 1972 by Kikuchi and Fujimoto et al. (1,2). Clinically the disease presents with lymphadenitis usually in the cervical region. Most reported cases of Kikuchi-Fujimoto disease have been of Asian origin. The cause is unknown and the condition is self-limiting. Some kind of viral or postviral etiology has been implicated. Bacterial and protozoal organisms as well as various other antigens, chemical, physical and neoplastic, have also been postulated. An association with systemic lupus erythematosus has also been shown. Lymphadenitis, hepatomegaly and splenomegaly as well as leukopenia, elevated erythrocyte sedimentation rate and hepatic abnormalities are common findings. Fever, malaise, fatigue, headache, night sweats, nausea, vomiting, weight loss, cutaneous manifestations, and even neurological symptoms are other complaints. Histologically the lymph nodes show partial involvement with patchy irregular areas of necrosis in the paracortical area with absence of neutrophils. We describe four cases of Kikuchi-Fujimoto disease observed in Greece. Their characteristics are discussed, whilst a review of the literature is attempted.
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PMID:Kikuchi-Fujimoto disease in Greece. A study of four cases and review of the literature. 1249 69

A 45-year-old woman was admitted with complaints of non-productive cough, chest pain, fatigue and weight loss in the last 4 months. On physical examination moderate hepatosplenomegaly and crackles most notably on the basal region of the right lung were evident. Serial chest X-rays and computed tomographies revealed a migratory nodular infiltration pattern, changing in location and size in both the lungs. The histopathological diagnosis of the open lung biopsy was lymphomatoid granulomatosis (LG) with a marked angioinvasive lymphocytic perivascular and peribronchial infiltration pattern. In the immunohistochemical analyses LCA, CD-79, CD-20 were positive, while CD-30 was negative. No response could have been achieved under combination chemotherapy and the patient died from progressive disease. LG is a rare disease and a difficult diagnosis in the routine clinical practice. This report emphasises that, LG should be considered especially when there are migratory nodules of varying sizes in lungs.
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PMID:Migratory nodules in the lung: lymphomatoid granulomatosis. 1269 Nov 64

Adrenal insufficiency is caused by either primary adrenal failure (mostly due to autoimmune adrenalitis) or by hypothalamic-pituitary impairment of the corticotropic axis (predominantly due to pituitary disease). It is a rare disease, but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia, and weight loss are non-specific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain, particularly in the identification of secondary adrenal insufficiency. Despite optimised life-saving glucocorticoid-replacement and mineralocorticoid-replacement therapy, health-related quality of life in adrenal insufficiency is more severely impaired than previously thought. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. Monitoring of glucocorticoid-replacement quality is hampered by lack of objective methods of assessment, and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist. However, all doctors should know how to diagnose and manage suspected acute adrenal failure.
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PMID:Adrenal insufficiency. 1293 4

Addison's disease or primary adrenal insufficiency is a rare disease, which is usually caused by autoimmune destruction of the adrenal cortex. The clinical picture is caused by deficiency of cortisol and aldosterone. These deficiencies are accompanied by adrenal androgen depletion of yet unknown significance. The current therapy is the replacement of glucocorticoids and mineralocorticoids, but the available drugs do not restore the normal diurnal variations in serum hormone levels. The clinical consequences of the grossly unphysiological replacement therapy are largely unknown. Many patients with Addison's disease on standard replacement therapy complain of fatigue, weariness, and reduced stress tolerance. One particular concern has been negative effects on both bone metabolism due to over-replacement of glucocorticoids and androgen depletion. This review discusses the evidence for the current drug and dosage recommendations. Current recommended daily starting dose for hydrocortisone and cortisone acetate are 20 and 25 mg, respectively, divided into two or preferably three doses. The mineralocorticoid depletion should be treated with fludrocortisone 0.05-2.0 mg/day [DOSAGE ERROR CORRECTED]. Replacement of dehydroepiandrosterone 20-50 mg has been advocated in adrenal failure, but the evidence for benefit is weak.
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PMID:Replacement therapy in Addison's disease. 1464 Sep 13

Interstitial pneumonitis is a rare disease that is seen in the context of some infections (e.g. PCP and CMV pneumonia), as side-effects of drugs (e.g. beta-blockers, amiodarone) and rarely in the context of renal transplantation. It manifests itself usually as a pneumonic illness; with symptoms of dyspnea, cough, fatigue and sometimes fever. Characteristic radiological changes are bilateral lower zone haziness. Interstitial pneumonitis is now emerging in solid organ transplant patients secondary to sirolimus). We describe three cases of sirolimus-induced pneumonitis in two patients who started sirolimus to permit cyclosporin withdrawal and in one patient initially started on sirolimus. The presentations in these cases ranged from insidious to fulminant; there was a rapid response to sirolimus withdrawal. This is an important syndrome, with an unknown frequency.
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PMID:Sirolimus-induced pneumonitis: three cases and a review of the literature. 1467 46

Primary amyloidosis is a rare disease, cardiac involvement occurs in up to 40% of patients. Diffuse amyloid deposits cause an impairment of myocardial systolic and diastolic function. In this paper we are presenting a case of a 54-year-old woman. The woman was admitted because of progressive fatigue, dyspnoea, chest pain, later she experienced hypotension, dyspepsia, and enterorrhagia. ECG showed decrease in QRS amplitude. We have found an echocardiographic evidence of wall hypertrophy. Right cardiac catheterization showed a restrictive situation. Immunobinding of serum and urine revealed monoclonal kappa light chains. The diagnosis was determined by rectal biopsy. Unfortunately, amyloid deposits caused progressive heart failure, hemorrhage, and death just before the diagnosis of primary amyloidosis could be determined on the basis of results of the immunofixations of serum and urine proteins (detection of the monoclonal light chains kappa) and from biopsy specimens taken from rectum (amyloid deposits).
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PMID:[Restrictive cardiomyopathy as a manifestation of primary amyloidosis]. 1501 21

(1) Acute promyelocytic leukaemia is a rare disease. There is a high remission rate after combination treatment with tretinoin and anthracycline, but there is no established treatment for refractory or relapsed disease. Further treatment with tretinoin, combined with intensive cytotoxic chemotherapy, seems to give the best results in patients who qualify for this treatment, but assessment is limited. (2) Arsenic trioxide has now been approved for induction of remission and consolidation in patients with refractory or relapsed acute promyelocytic leukaemia. (3) The clinical evaluation dossier that supported the application contains data from two non comparative trials including 12 and 40 patients. A complete haematological response was obtained in 45 (87%) of the 52 patients, and the survival rate among patients in first relapse was 77% after a median follow-up of two years. These results are similar to those previously obtained with tretinoin plus intensive cytotoxic chemotherapy. (4) All the patients treated with arsenic trioxide experienced adverse events. This was to be expected given the acute and chronic toxicity of arsenicals. Most events included fatigue, gastrointestinal disturbances, peripheral neuropathies, prolongation of the QT interval; and biochemical disturbances (hypokalaemia, hyperglycaemia, elevated transaminase activity). (5) Like tretinoin, arsenic trioxide can provoke a potentially severe leukocyte activation syndrome. (6) In practice, these encouraging data justify further assessment of arsenic trioxide. This drug is already an option for patients with refractory or relapsed disease who cannot receive tretinoin plus intensive chemotherapy.
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PMID:Arsenic trioxide: new preparation. Acute promyelocytic leukaemia: encouraging results but persistent doubts. 1553 37


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