Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From 1960 through 1972, 236 cases of amyloidosis with histologic proof were found. The amyloidosis was primary (without evidence of preceding or coexisting disease) in 132 cases (group 1) and associated with multiple myeloma in 61 (group 2). Secondary amyloidosis appeared in 19 cases (associated with rheumatoid arthritis or osteomyelitis in two-thirds of them). There were 22 patients with amyloid localized to a single organ (bladder, lung, skin, or larynx in more than half of them). Two patients had familial amyloidosis. In group 1 and group 2, the most common presenting symptoms were fatigue, weight loss, edema, dyspnea, light-headedness or syncope, and paresthesias. Symptoms of the carpal-tunnel syndrome were frequent. The liver was palpable in almost 50% of the series, but splenomegaly was an initial finding in less than 10%. Macroglossia was recorded in 26% of group 2 and in 12% of group 1. Enlargement of submandibular structures was noted in about 10% of cases; and purpura, particularly around the eyes, was a significant feature. Substantial numbers of the patients had carpal-tunnel syndrome, nephrotic syndrome, congestive heart failure, sprue, peripheral neuropathy, or orthostatic hypotension. Approximately 50% of patients had renal insufficiency at the time of diagnosis. Proteinuria was found in more than 90%. A monoclonal protein was found in the serum of 49% of group 1 and in 74% of group 2. Monoclonal proteins were found in the urine of 35% and 81%, respectively. Only 12% of patients in group 1 had no monoclonal protein when both serum and urine were analyzed, and all patients of group 2 had a monoclonal protein in the serum or urine when both were analyzed. Lambda light chains were more common than kappa. None of the patients in group 1 had more than 15% plasma cells in the marrow, whereas more than half of group 2 had more than 15% plasma cells. Roentgenograms showed no evidence of skeletal disease in 94% of group 1, but 50% of group 2 had skeletal abnormalities. Rectal biopsy was positive for amyloid in 84% of cases. Kidney, liver, and carpal-tunnel biopsies were positive in 90% or more. Follow-up of all 193 patients in groups 1 and 2 revealed that 80% of group 1 and 97% of group 2 had died. The median survival was 14.7 months in group 1 and 4 months in group 2. Cardiac failure was the most common cause of death, accounting for 30% of the fatalities. We also reclassified all cases by the method of Isobe and Osserman (105), which is based on clinical patterns: pattern I--principal involvement of tongue, heart, gastrointestinal tract, muscle, nerves, skin, and carpal ligaments; pattern II--principal involvement of liver, spleen, kidneys, and adrenals; and mixed pattern I and II. This analysis failed to reveal predictive value in the clinical pattern classification, and did not discern the survival differences between primary amyloidosis (group 1) and amyloidosis with myeloma (group 2). Consequently, for the present we prefer the classification used in this study.
 ...
PMID:Amyloidosis: review of 236 cases. 115 71

A 7-year-old boy was referred to the children's hospital because of gross oedema and tiredness. Massive proteinuria was found and the condition was diagnosed as a childhood nephrotic syndrome. Concomitantly, pathologically low levels of serum alkaline phosphatase were recorded, and this, together with generalized osteoporosis and premature synostosis of cranial sutures, led to a second diagnosis: hypophosphatasia. The patient's family history further confirmed this condition of a heritable defect of metabolism. Dental inspection revealed very carious teeth with characteristically enlarged pulp chambers in molars. Histological examination of an extracted tooth revealed an unusually wide zone of predentine with some other dentinal irregularities. No cement layer was found. The skeletal age and exfoliation of primary teeth, however, were normal, unlike most reported cases of hypophosphatasia. The patient's renal disease was treated mainly with corticosteroids. There is no treatment for hypophosphatasia.
 ...
PMID:Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome. 643 Aug 33

Clinical and pathologic data of 13 children, aged 5 to 16 years, with acute interstitial nephritis (AIN) are presented. The cause of AIN in these children was assessed as being related to infection in ten and methicillin in one; no infection, drug, or toxin could be implicated in two other patients. In addition to having various degrees of acute renal failure, all patients had systemic symptoms, most common of which were fatigue, fever, sore throat, and gastrointestinal disturbances. In six patients, the diagnosis of AIN was clinically suspected on the basis of tubular dysfunction such as low urinary specific gravity and glucosuria; in seven others the diagnosis was made after examination of the renal biopsy. Two patients had the nephrotic syndrome which resolved only after cytotoxic agents were added to corticosteroid therapy. The remaining 11 patients were given supportive therapy including peritoneal dialysis in one case. Complete recovery of renal function occurred in all patients within a mean interval of 69.5 +/- 34.7 days from the onset of symptoms, and all patients continue to have normal renal function during a follow-up period ranging from 1.5 to 10 years. We conclude that, in children, AIN is underdiagnosed, is most often associated with streptococcal infection, and carries an excellent prognosis.
 ...
PMID:Acute interstitial nephritis in children: a report of 13 cases and review of the literature. 701 63

Recent studies of obstructive sleep apnea and its comorbidity with other systemic diseases have stimulated interest in the relationship of apnea to renal disease and hypertension. Polysomnographic sleep studies in patients on dialysis who complain of day-time fatigue or sleepiness reveal significant apnea in up to 73% of those studied. Abnormalities in respiratory controller mechanisms from chronic hypocarbia, metabolic acidosis, and uremic toxins have been blamed for the occurrence of apnea in this setting. Proteinuria and sometimes nephrotic syndrome have been recognized in morbidly obese patients with sleep apnea syndrome. Renal biopsies of such patients have shown glomerulomegaly and focal segmental sclerosis. It is postulated that these lesions may result from increased glomerular filtration and blood flow. Elevated urine output, sodium and chloride excretion, and atrial natriuretic peptide have been well demonstrated in obstructive apnea patients and correct to control levels with treatment of the apnea. Both acute (with each apnea) and chronic daytime blood pressure elevation are frequently observed in sleep apnea patients, and occult sleep apnea is postulated as one possible cause of "primary" hypertension in middle-aged men. In younger patients, such hypertension seems to be more reversible with the elimination of apnea. In older patients, however, the cure of systemic hypertension cannot be guaranteed with the elimination of the apnea, and asymptomatic apnea patients tend not to tolerate the bother and discomfort of apnea treatment with nasal continuous positive airway pressure. Therefore, aside from a careful history regarding sleep symptomatology, polysomnographic studies of clinic populations with primary hypertension to search for apnea as a cause cannot be recommended.
 ...
PMID:Obstructive sleep apnea and the kidney. 830 38

A defect of lysosomal neuraminidase (sialidase N-acetyl-neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4-year-old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course over 3 years was characterized by slow growth and psychomotor development. He had mild hepatosplenomegaly, joint restriction, gingival hypertrophy, lens opacities and cherry-red spot. Coarse facial features and depressed nasal bridge were discreet. At the age of 3.5 years, he developed gradual progressive edema, decreased activity and increased fatigue. A diagnosis of nephrotic syndrome was made because of massive proteinuria. Thin-layer chromatography of urinary oligosaccharides revealed the presence of several abnormal sialyloligosaccharides. The diagnosis was confirmed by measurement of neuraminidase activity in cultured skin fibroblasts.
 ...
PMID:Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland. 894 16

A 51-year-old woman was admitted to our hospital complaining of fever and general fatigue. Physical examination revealed butterfly-like erythema in face, facial edema and diffuse purpura all over her body. Laboratory data showed renal dysfunction, nephrotic syndrome and active phase of SLE. She was administered first methylprednisolone (1g/day/3 days by intravenous drip) then prednisolone (60 mg/day/month, orally) and had immune adsorption therapy for eight times. However, 14 days after the last session of immune adsorption, she developed fever of 39 degrees C and mild headache, and then 3 days later, she gradually became unconscious. Brain CT showed hydrocephalus. We diagnosed her as having tuberculous meningitis based on the detection of acid-fast bacillus in cerebrospinal fluid, and began treatment with antituberculous agents. We suspected that tuberculous meningitis had caused hydrocephalus. We tried percutaneous drainage of the left ventricle for hydrocephalus. Brain MRI showed a tuberculoma depicted as a mass of low intensity in the right cerebellum on the T1-weighted image, and of high intensity on the T2-weighted image, and the meninx in the basal cistern was enhanced. After treatment with antituberculous agents, we performed serial brain MRI and examined cerebrospinal adenosine deaminase activity (ADA). Despite treatment with antituberculous agents, new intracerebral tuberculomas had developed in some areas, whereas they had disappeared in other areas. After treatment for 4 months, the level of cerebrospinal ADA became normal, and the patient recovered consciousness despite the presence of multiple tuberculomas. Both the cell counts and the level of ADA in cerebrospinal fluid are the good indicators of the activity of tuberculous meningitis and reflected its clinical course. Furthermore, the level of ADA in cerebrospinal fluid changed with brain MRI image. Serial brain MRI and examination of ADA in cerebrospinal fluid were useful to know the activity of tuberculous meningitis and to evaluate the response to treatment.
 ...
PMID:[Tuberculous meningitis developed during treatment for systemic lupus erythematosus (SLE)]. 1006 53

Multiple myeloma is characterized by the presence of bone pain, weakness, and fatigue. Ninety-eight percent of patients have an M-protein in the serum or urine at the time of diagnosis. Skeletal roentgenograms are abnormal in nearly 80%. Renal insufficiency (creatinine > or = 2 mg/dL) is present in one-fourth. The major causes of renal insufficiency are "myeloma kidney" and hypercalcemia. The diagnosis of multiple myeloma depends upon the presence of more than 10% plasma cells or a plasmacytoma plus an M-protein in the serum or urine or lytic bone lesions. Multiple myeloma must be differentiated from monoclonal gammopathy of undetermined significance and smoldering multiple myeloma. The plasma cell labeling index and the presence of circulating plasma cells in the peripheral blood are helpful in the differential diagnosis. Plasma cell leukemia, osteosclerotic myeloma (POEMS syndrome), and plasmacytomas are discussed. The heavy-chain diseases consist of alpha, gamma, and mu heavy-chain disease. The fibrils of primary amyloidosis consist of kappa or lambda monoclonal light chains. Weakness, fatigue, and weight loss are the most frequent symptoms. Macroglossia occurs in 10%. An M-protein is found in the serum or urine in 90%. The presence of nephrotic syndrome, renal insufficiency, congestive heart failure, orthostatic hypotension, or sensorimotor peripheral neuropathy, and an M-protein in the serum or urine suggest the possibility of primary amyloidosis. The diagnosis depends upon the demonstration of amyloid in tissues. The subcutaneous fat aspirate is positive in 80% while the bone marrow is positive in 55%. If these tissues are negative, one should obtain tissue from an involved organ.
 ...
PMID:Clinical aspects of multiple myeloma and related disorders including amyloidosis. 1019 81

Primary (AL, amyloid light-chain) amyloidosis is a plasma cell disorder in which deposits of amyloid light-chain protein cause progressive organ failure. It is important to recognise that amyloidosis is a dynamic process and chemotherapy-induced reduction of the activity of the plasma cell clone reduces the supply of the amyloid precursor protein and can result in a major regression of the deposits. The most common target organ is the kidney and renal amyloidosis manifests as proteinuria or nephrotic syndrome. Proteinuria is seen in three quarters of patients. Amyloid related nephrotic syndrome and renal failure are potentially reversible. Fatigue, congestive heart failure, hepatomegaly, peripheral neuropathy, orthostatic hypotension, carpal tunnel syndrome and macroglossia are other common features. The median survival is one to two years. Conventional-dose melphalan as standard treatment can prolong the median duration of survival by about ten months, but the clinical response rates with improvement of impaired organ function are low. Up-front high-dose chemotherapy with autologous peripheral blood stem cell transplantation is much more effective and can result in a major improvement in the clinical condition of patients. However, the toxicity related to this treatment can be relevant due to impaired organ function. Conventional-dose chemotherapy consisting of vincristine, doxorubicin and dexamethasone or high-dose dexamethasone or interferon-alpha are other possible approaches to treatment. The improvement of patient condition with an effective conventional-dose chemotherapy may increase the tolerability of high-dose chemotherapy and reduce transplantation related problems.
 ...
PMID:Novel approaches to the treatment of primary amyloidosis. 1106 Aug 11

A 55-year-old Japanese woman has been treated with various kinds of anti-rheumatic drugs under a diagnosis of rheumatoid arthritis(RA) for 18 years of disease duration. She persistently had right elbow joint pain and swelling and X-ray showed bone erosion on humerus. Thus, the synovectomy was performed with typical histopathology of RA on April 1999. On the end of February 2000, she had suddenly fatigue and anasarca with profound proteinuria of nephrotic syndrome. The renal biopsy showed minimal change glomerulopathy and no cellular infiltration in interstitial tissue by light microscopy and partial fusion of foot process by electron microscopy. Renal function was sustained normally. All of anti-rheumatic drugs including D-penicillamine(D-Pc) except NSAID were stopped and she was treated with bed rest, diet therapy, diuretics and albumin infusion without steroid therapy. Edema and proteinuria gradually disappeared. Membranous and amyloid nephropathy in RA patients associated with nephrotic syndrome are found in high incidence in literature. In low incidence, MCNS is associated with NSAID or D-Pc induced nephropathy in RA. In our case, nephrotic syndrome disappeared in 6 weeks without discontinuation of NSAID and application of steroid therapy. Thus, MCNS might be co-incidentally associated with RA.
 ...
PMID:[A case of rheumatoid arthritis associated with minimal change nephrotic syndrome]. 1179

In 1938 Procaccini showed scientific interest in a new kind of ameba, and called it "nephrouroameba" from which the disease "nephrouroamebiasis" is derived. He wrote a paper titled "La Nefrouroamoebiasi" thus describing its history, the biopathogenetic evolutionary cycle of the protozoon, its therapeutic, epidemiological, anatomo-biological, diagnostic, cultural, biological and morphological features. Between 1934 and 1939, Procaccini had the opportunity to follow many patients belonging to a group of Italian soldiers serving in the Eastern Italian Army in Ethiopia. At that time he was responsible for the biopathological laboratory. After a short preclinical stage of fatigue, patients suffering from nephrouroamebiasis showed a nephrotic syndrome with gross hematuria. The symptoms ceased within a few days but residual microhematuria, albuminuria and urine casts persisted for many months. After microscopic observation, he reproduced some protozoons and classified them as a kind of ameba. Critical analysis of his report leads to the morphological identification of Trichomonas, thus excluding his classification as nephrouroamebas.
 ...
PMID:The discovery of nephrouroameba: was it real or not? 1209 51


1 2 3 Next >>