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 67-year-old female visited our department complaining a general fatigue. Gastrointestinal endoscopy revealed a giant ulcer at distal portion of the stomach. NSE was the only tumor marker showing an abnormal value. Pathohistology of the biopsy specimen showed a monotonus massive growth of small irregular tumor cells. Distal gastrectomy with regional lymph node dissection was carried out. Final pathology report was undifferentiated adenocarcinoma of the stomach, exposing itself to serosa with lymph node metastasis. Postoperative chemotherapy was started using S-1. However, despite NSE turning normal, CEA rose that CDDP was added to the regimen. She went into remission for several months but CEA rose again and CDDP was changed to CPT-11. To our great regret, she died six months after the operation. Undifferentiated adenocarcinoma of the stomach is rare disease. Immunohistochemical staining is useful for a differential diagnosis. Prognosis is said to be poor but S-1/CDDP may contribute to prolong prognosis.
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PMID:[Adjuvant chemotherapy of S-1 and CDDP for undifferentiated adenocarcinoma of the stomach]. 1910 20

Botulism is a rare disease in Chile and of the known clinical presentation, infant botulism is the most common. We report the case of a previously healthy seven month old male infant with a two weeks history of rinorrea, cough, fatigue, constipation and progressive weakness after the consumption of honey. Stool cultures were positive for Clostridium botulinum group 1 type A and electromyography was compatible with the diagnosis. The patient evolved with arterial hypertension, interpreted as secondary to autonomic dysfunction, which responded to calcium channel blockers. Muscle tone improved progressively during the following four weeks. Infant botulism is a potentially fatal disease; diagnosis can be difficult given the broad clinical manifestations. Prevention should focus on education of parents of infants as well as medical personnel.
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PMID:[Infant botulism: case report and review]. 1962 Nov 49

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) (calcitriol) levels. This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. It is caused by mutations in a consensus sequence for proteolytic cleavage of the FGF23 protein. Normally, this protein actively regulates phosphate homeostasis. Here we report a Tunisian family in which one parent and three children show clinical and biological features of ADHR. Mutation analysis of the FGF23 gene finds a heterozygous substitution of the C at position 526 by a T (526 C --> T), leading to an amino acid replacement of the FGF23 protein (R176W) at position 176. This causative new mutation is located in the consensus sequence for the proteolytic cleavage domain. These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology.
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PMID:An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation. 1965 82

Primary localised amyloidosis involving the retroperitoneum is a rare disease. We report a 71-year-old diabetic man who presented with generalised fatigue, malaise and elevated serum creatinine. Investigations confirmed obstructive uropathy secondary to a retroperitoneal mass behind the urinary bladder, causing extrinsic compression of both the ureters, resulting in bilateral hydroureteronephrosis. Following initial bilateral percutaneous nephrostomies to stabilise renal function, a computed tomography-guided biopsy of the pelvic lesion which was done, was suggestive of amyloidosis. We present this case due to the rarity of localised retroperitoneal amyloidosis as a cause of obstructive uropathy.
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PMID:Localised retroperitoneal amyloidosis mimicking retroperitoneal fibrosis: a rare cause of obstructive uropathy. 1978 64

Relapsing polychondritis (RP) is a rare connective tissue disease which affects cartilaginous tissues of the nose, earlobes, respiratory tract, and joints, as well as proteoglycan-rich tissues including the media of the arteries, the conjunctiva and sclera of the eye. The disease is most common in patients aged 40-60 years. It may for a long time cause unspecific signs (fever, malaise), which may cause a significant delay in establishing the diagnosis and initiating the ppropriate treatment. The mean time from symptom onset to diagnosis is 2.9 years. Steroids are the mainstay of therapy, but methotrexate and dapsone may also be beneficial in some patients. A case of RP presenting with fever, anemia, fatigue, arthritis, conjunctivitis, and auricular deformation is described. There were signs and symptoms suggestive of an infectious disease but no infection had been found, and despite tentative administration of antibiotics, the patient's condition steadily deteriorated. Eventually, the diagnosis was established based on McAdam's criteria. After intiating steroid therapy, the patient's condition improved significantly. We discuss the diagnostic criteria and treatment of this rare disease.
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PMID:Relapsing polychondritis: case report and literature review. 1984 47

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome.
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PMID:Chronic fatigue syndrome: aetiology, diagnosis and treatment. 1985 42

PURPOSE There is no effective therapy for patients with distant metastasis of medullary thyroid carcinoma (MTC). Activating mutations in the RET proto-oncogene cause hereditary MTC, which provides a strong therapeutic rationale for targeting RET kinase activity. This open-label, phase II study assessed the efficacy of vandetanib, a selective oral inhibitor of RET, vascular endothelial growth factor receptor, and epidermal growth factor receptor signaling, in patients with advanced hereditary MTC. METHODS Patients with unresectable locally advanced or metastatic hereditary MTC received initial treatment with once-daily oral vandetanib 300 mg. The dose was adjusted additionally in some patients on the basis of observed toxicity until disease progression or any other withdrawal criterion was met. The primary assessment was objective tumor response (by RECIST [Response Evaluation Criteria in Solid Tumors]). Results Thirty patients received initial treatment with vandetanib 300 mg/d. On the basis of investigator assessments, 20% of patients (ie, six of 30 patients) experienced a confirmed partial response (median duration of response at data cutoff, 10.2 months). An additional 53% of patients (ie, 16 of 30 patients) experienced stable disease at >/= 24 weeks, which yielded a disease control rate of 73% (ie, 22 of 30 patients). In 24 patients, serum calcitonin levels showed a 50% or greater decrease from baseline that was maintained for at least 4 weeks; 16 patients showed a similar reduction in serum carcinoembryonic antigen levels. The most common adverse events were diarrhea (70%), rash (67%), fatigue (63%), and nausea (63%). CONCLUSION In this study, vandetanib demonstrated durable objective partial responses and disease control with a manageable adverse event profile. These results demonstrate that vandetanib may provide an effective therapeutic option in patients with advanced hereditary MTC, a rare disease for which there has been no effective therapy.
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PMID:Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. 2006 89

The systemic capillary leak syndrome (SCLS) is a rare disease of reversible plasma extravasation and vascular collapse accompanied by hemoconcentration and hypoalbuminemia. Its cause is unknown, although it is believed to be a manifestation of transient endothelial dysfunction due to endothelial contraction, apoptosis, injury, or a combination of these. Fewer than 150 cases of SCLS have been reported, but the condition is probably underrecognized because of its nonspecific symptoms and signs and high mortality rate. Patients experience shock and massive edema, often after a nonspecific prodrome of weakness, fatigue, and myalgias, and are at risk for ischemia-induced organ failure, rhabdomyolysis and muscle compartment syndromes, and venous thromboembolism. Shock and edema reverse almost as quickly as they begin, at which time patients are at risk for death from flash pulmonary edema during rapid fluid remobilization. Diagnosis is made clinically and by exclusion of other diseases that cause similar symptoms and signs, most notably sepsis, anaphylaxis, and angioedema. Acute episodes are treated with vasopressor therapy and judicious fluid replacement, possibly with colloid solutions for their osmotic effects, to prevent the sequelae of underperfusion. Between episodes, patients may be treated with theophylline and terbutaline, which clinical experience suggests may reduce the severity and frequency of acute episodes. Prognosis is uncertain, but patients who survive an initial severe SCLS episode are estimated to have a 10-year survival rate greater than 70%. Much remains to be learned about SCLS, and clinicians should consider the diagnosis in patients with unexplained edema, increased hematocrit, and hypotension.
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PMID:Narrative review: the systemic capillary leak syndrome. 2113 5

Central hypothyroidism (Central H) is mainly due to acquired lesions, either in the pituitary, the hypothalamus or both, and in such cases it is usually associated with deficient secretion of ther pituitary hormones. Isolated central hypothyroidism (I Central H) remains a very rare disease. By the use of the serum thyroid stimulating hormone (TSH) assay as an initial screening test for thyroid disease, the diagnosis of I, Central H can be missed or delayed, since most of these patients have normal or even slightly high serum TSH concentrations. We present a 54-year-old woman with intense tiredness, in whom hypothyroidism was initially and persistently excluded because of normal TSH levels. Further investigations showed again a normal TSH with slightly low free thyroxine (FT4), and Central H was suspected. A thyrotropin releasing hormone (TRH) stimulation test confirmed the diagnosis. No lesion was found by magnetic resonance imaging (MRI). No other pituitary hormone insufficiency was detected. Finally, after excluding, the intake of any drug affecting the hypothalamo-pituitary-thyroid axis and the presence of critical systemic illness, the unusual diagnosis of idiopathic isolated Central H was made. When suspecting Central H, both FT4 and TSH should be measured and if these values are low, TSH response to TRH is recommended to reach specific diagnosis.
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PMID:Isolated idiopathic central hypothyroidism in an adult, possibly caused by thyrotropin releasing hormone (TRH) deficiency. 2068 2

Miliary tuberculosis is a rare disease that is difficult to diagnose because of its non-specific presentation. It should be suspected in elderly patients who complaint of failure to thrive, unexplained fatigue and weight loss. Using a clinical situation where the diagnosis was made only at autopsy, we briefly review the epidemiology of miliary tuberculosis and propose recommendations for the diagnosis and the prophylaxis of latent tuberculosis. Finally, we discuss criteria to perform epidemiological investigations among close contacts in this situation.
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PMID:[Miliary tuberculosis: unexpected autopsy finding in an elderly person]. 2117 36


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