Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe three major rheumatological classifications together with an account of the phlebological aspects of these phenomena. They deal with gonarthrocace, which is predominantly stasis; rheumatoid arthritis, which may be induced by inflammatory injuries to the vein wall, by endothelitis of the venulo-capillary segments, or racemose lividity; and gout which mainly involves turgescence, and mural phlebitis. This is not forgetting the secondary classifications, associated with polyglobulism, anemia, and foranioplasia.
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PMID:[Venous participation in gonarthrosis, rheumatoid arthritis, and gout]. 746 40

Disorders in purine and pyrimidine metabolism may be difficult to recognize because their recent description means many are little known. They cover a broad spectrum of illnesses, can present from birth to the 80s, have multiple symptoms and lead to early death. Recognition of new disorders requires skill and serendipity. Often parents of affected children provide valuable clues. These disorders should be suspected, particularly where the history involves siblings, in anaemia, susceptibility to infection, or neurological deficits including autism, delayed development, epilepsy, self-mutilation, muscle weakness and - unusual in children and adolescents - gout. Some patients present with kidney stones, renal failure, alone or with the above, or as an intolerance/sensitivity to therapy (fluorouracil or azathioprine immunosuppression). These disorders can be detected from the abnormal metabolites in body fluids and/or altered enzyme activity. Abnormal cellular nucleotides or renal clearance may sometimes provide the only clue. Diagnosis can be difficult because of genetic heterogeneity and interference by blood transfusion, diet or drugs. Tests incorporating enzyme peak shifts and online diode-array detection are essential. Collaborative research is needed to improve the diagnosis and understanding of the metabolic basis for these sometimes devastating disorders and to apply this knowledge to the more common killers of mankind.
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PMID:When and how does one search for inborn errors of purine and pyrimidine metabolism? 803 39

Using medical manuscripts and texts from the Byzantine period (330-1453), this article describes various, to date little discussed, aspects of Byzantine nosology, public health and therapeutics. Many diseases in the Byzantine era were widespread and had a high morbidity such as respiratory disease, various kinds of anaemia, pestilential diseases (e.g. quartan fever, plague, dysentery and cholera), parasitic diseases, orthopaedic, rheumatic and psychiatric disorders, trachoma and alcoholism. Other very serious and relatively frequent conditions included leprosy, mania, gout, cancerous tumours and ulcers. Important elements of nephrology and various renal diseases were described and investigated, such as acute and chronic renal failure, acute and chronic nephritis, pyelonephritis, necrotic renal diseases, crush syndrome, and ulcers of the kidneys, i.e. tuberculosis or renal tumours. The microhistology and physiology of the kidneys were first studied by Oribasius, who discerned the existence of the capillaries--tau rho iota chi omicron epsilon iota delta eta--some centuries before Malpighi. He also correctly described the blood circulation, general and pulmonary, as a precursor to Harvey. The first hospitals were organised during the Byzantine period, and the practice of Byzantine medical science and its social applications were regulated by a special medical legislation and deontology. Byzantine medicine was fruitfully connected with the Christian faith and developed the supreme model of the saints unmercenary--alpha nu alpha rho gamma epsilon rho omicron iota--physicians such as Cosmas and Damian (3rd century), Panteleemon (3rd-4th centuries) and the women physicians and miracle-worker saints, Zenais and Philonilla (1st century), the 'friends of peace', and Hermione (1st-2nd centuries).
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PMID:Diseases in the Byzantine world with special emphasis on the nephropathies. 918 37

When to suspect and thus investigate for inborn errors of purine and pyrimidine metabolism is a dilemma for even the most observant investigator. Often parents of affected children, or a history involving siblings, can provide valuable clues. The recognition of new purine and pyrimidine disorders requires skill and serendipity. But even identifying known disorders can prove difficult, since they cover a broad spectrum of illnesses, can have more than one symptom, or lead to early death. This problem is compounded by the fact that they are relatively recently described and therefore often little known, either in the clinic or laboratory. The considerable heterogeneity in clinical expression within families as well as between families means that asymptomatic homozygotes may not be recognized or can present at any time from early childhood through adolescence up to their eighth decade. Consequently, all siblings should be screened. These disorders should be suspected in any case of unexplained anaemia, failure to thrive, susceptibility to recurrent infection, or neurological deficits with no current diagnosis, including autism, cerebral palsy, delayed development, deafness, epilepsy, self-mutilation, muscle weakness, the inability to walk or talk, and-unusual in children and adolescents-gout, sometimes with renal disease. Some disorders present with radiolucent kidney stones, in acute or chronic renal failure, alone or with any of the above, or as an intolerance/sensitivity to therapy (e.g. 5-fluorouracil in malignancies or azathioprine immunosuppression in organ transplantation), often with life-threatening consequences. Several parameters need to be evaluated to ensure correct diagnosis. Pitfalls which can mask diagnosis using only a single test are renal failure, blood transfusion, diet or drugs.
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PMID:When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications. 921 Nov 94

The medicinal use of cacao, or chocolate, both as a primary remedy and as a vehicle to deliver other medicines, originated in the New World and diffused to Europe in the mid 1500s. These practices originated among the Olmec, Maya and Mexica (Aztec). The word cacao is derived from Olmec and the subsequent Mayan languages (kakaw); the chocolate-related term cacahuatl is Nahuatl (Aztec language), derived from Olmec/Mayan etymology. Early colonial era documents included instructions for the medicinal use of cacao. The Badianus Codex (1552) noted the use of cacao flowers to treat fatigue, whereas the Florentine Codex (1590) offered a prescription of cacao beans, maize and the herb tlacoxochitl (Calliandra anomala) to alleviate fever and panting of breath and to treat the faint of heart. Subsequent 16th to early 20th century manuscripts produced in Europe and New Spain revealed >100 medicinal uses for cacao/chocolate. Three consistent roles can be identified: 1) to treat emaciated patients to gain weight; 2) to stimulate nervous systems of apathetic, exhausted or feeble patients; and 3) to improve digestion and elimination where cacao/chocolate countered the effects of stagnant or weak stomachs, stimulated kidneys and improved bowel function. Additional medical complaints treated with chocolate/cacao have included anemia, poor appetite, mental fatigue, poor breast milk production, consumption/tuberculosis, fever, gout, kidney stones, reduced longevity and poor sexual appetite/low virility. Chocolate paste was a medium used to administer drugs and to counter the taste of bitter pharmacological additives. In addition to cacao beans, preparations of cacao bark, oil (cacao butter), leaves and flowers have been used to treat burns, bowel dysfunction, cuts and skin irritations.
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PMID:Food of the gods: cure for humanity? A cultural history of the medicinal and ritual use of chocolate. 1091 25

Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 members (both male and female) have suffered from chronic renal failure. The first evidence of renal involvement was observed between 18 and 38 years. It included hypertension followed by progressive renal insufficiency. No polyuria, anemia, gout, hematuria, nor proteinuria were seen. An average of 4.5 years elapsed from diagnosis to end-stage renal disease. Renal pathology at early stages of the disease showed extensive tubulointerstitial fibrosis and global glomerulosclerosis. Linkage analysis was performed at the two known loci of ADMCKD, on Chromosomes 1 and 16. Linkage to the chromosome 16 locus was excluded. However, linkage to the chromosome 1q21 locus of ADMCKD was established with a maximum two-point LOD score of 3.82 to D1S394. The disease interval could be narrowed to about 9 cM/7.4 Mb between D1S1156 and D1S2635. Multiple-point linkage analysis revealed a maximum LOD of 4.21, with a broad peak from markers D1S2858 and D1S2624. This report establishes linkage between a familial nephropathy characterized by hypertension and progressive renal failure to the locus described for ADMCKD, a disease classically associated with macroscopic corticomedullary cysts, salt-losing tubulointerstitial nephropathy, and anemia. This finding broadens the clinical spectrum of ADMCKD positioned on chromosome 1q21 locus.
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PMID:Clinical and genetic characterization of an autosomal dominant nephropathy. 1124 91

Nervous-psychic status by criteria of the V. P. Serbsky Center of Mental Health (Moscow) was assessed in 107 patients with rheumatoid arthritis (n = 54), osteoarthritis deformans (n = 35), gout (n = 11), ankylosing spondyloarthritis (n = 7). Autonomic and psychosomatic, asthenic, affective, hypochondriac, phobic, hysteric disorders were detected in 24.3, 15.9, 8.4, 7.5, 4.6 and 2.8% of examinees, respectively. These disorders correlated with the form and duration of the underlying disease, age of the patients, severity of anemia and joint dysfunction. Such social factors as invalidity, family and financial problems, frequent pregnancies and labor also contributed to development of nervous-psychic disorders.
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PMID:[Borderline nervous mental disorders in patients with chronic joint diseases]. 1236 Jun 15

A clinical evaluation of phenylbutazone and Butapyrin(R) (a mixture of phenylbutazone and aminopyrine) was made in 409 patients who had a variety of rheumatic diseases. Preliminary European claims were substantiated.In gout a specific favorable effect was brought about by phenylbutazone alone. Effects equivalent to the previously reported favorable response to Butapyrin (Irgapyrin) were observed when its constituent phenylbutazone was used alone. The drug had a suppressive effect in a high percentage of patients with rheumatoid arthritis, ankylosing spondylitis, arthritis with psoriasis and mixed arthritis (rheumatoid arthritis plus osteoarthritis). Favorable effect in peritendinitis of the shoulders, osteoporosis of the spine and acute lumbosacral strain also was noted. Toxicity resulted in discontinuance of medication in 10 per cent of patients with each drug. Manifestations of toxicity generally included fluid retention, nausea and rash, but there were several instances of transitory leukopenia and anemia. There was one instance of agranulocytosis with Butapyrin but none with phenylbutazone.dagger Aggravation of peptic ulcer occurred in ten patients with hemorrhage in two. Generally the toxicity was of a low order as compared with that of other drugs having an antirheumatic effect.
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PMID:Phenylbutazone (butazolidin) and butapyrin; a study of clinical effects in arthritis and gout. 1300 82

A 37-year-old male presented with severe anemia, mild jaundice, and hemoglobinuria during his second course of diclofenac for gout. The peripheral blood showed microspherocytes and nucleated red blood cells (RBCs). The reticulocyte count was 21 percent and haptoglobin was < 0.1 g/L. A presumptive diagnosis of diclofenac-induced immune hemolysis was made and blood, urine, and drug samples were referred for investigation. Direct antiglobulin testing showed the RBCs to be coated with IgG1, IgG4, and C3d, but an eluate only yielded weakly reacting IgG antibodies. In tests for drug-dependent antibodies, group O, R1R2 red cells were incubated with the patient's serum that had been mixed with either urine (which contained diclofenac metabolites) or diclofenac solution and then tested by an antiglobulin method. Strongly positive reactions with anti-IgG occurred in the tests using urine but only weak reactions in those tests employing diclofenac solution. All controls gave negative results. These findings support the role of diclofenac in causing hemolysis and the importance of employing urine as a source of drug metabolites. The findings also showed that an immune complex mechanism predominated and that the eluted IgG (detectable independently of the presence of the drug or its metabolites) confirmed a minor autoimmune component. Diclofenac was stopped and treatment with prednisolone and folic acid instituted; this resulted in complete recovery.
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PMID:Immune hemolytic anemia due to diclofenac. 1538 91

Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) to the NPH-MCKD complex, a group of inherited tubulointerstitial nephritis which share some morphological and clinical features. Juvenile NPH, the most frequent variant of the complex, is a recessive disease with onset in childhood leading to end stage renal disease (ESRD) within the 2nd decade of life. The most frequent extrarenal involvement is tapeto-retinal degeneration. MCKD is a less frequent disease with dominant inheritance; it is recognized later in life, leading to ESRD at the age of 50 years, and may be associated with hyperuricemia and gout. In an early phase, both NPH and MCKD are pauci-symptomatic, major signs being confined to polyuria. Later in the course, clinical findings are related to the progressive renal insufficiency, such as anemia, uremic symptoms and, in NPH, growth retardation. On renal ultrasound, the kidneys present an increased medullary echogenicity with diminished cortico-medullary differentiation. Renal cysts may be present, usually at corticomedullary boundary. Due to the clinico-pathological identity, the two diseases were considered to be a single disorder, and the compromise appellation of NPH-MCKD complex was suggested. This unifying conception was subsequently refuted following the identification of MCKD dominant families. The recent advances of the molecular genetics changed the traditional classification of NPH-MCKD complex. The majority of cases of juvenile NPH are due to deletion of the NPHP1 gene on chromosome 2q13. Genes for infantile and adolescent NPH have been localized to chromosome 9q22-q31 and 3q22, respectively. A new locus, NPHP4, has been recently mapped on chromosome 1p36. Two genes predisposing to dominant MCKD, MCKD1 and MCKD2, have been localized to chromosome 1q21 and to chromosome 16p12. Moreover, a gene for familial juvenile hyperuricemic nephropathy (FJHN), a phenotype very similar to MCKD, was mapped to 16p12 in a region overlapping with the MCKD2 locus. The proof of the allelism between MCKD2 and FJHN has been recently provided by the identification of four novel uromodulin (UMOD) gene mutations, segregating with the disease phenotype in three families with FJHN and one with family with MCKD2. These data provide the first direct evidence that MCKD2 and FJHN arise from mutation of the UMOD gene and are allelic disorders.
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PMID:Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again. 1765 3


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