Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003864 (arthritis)
 69,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five cases of early-onset gouty arthritis are presented, with roentgenographic abnormalities evident in the first two decades of life. Three patients suffered from "primary" gout; classification of the other two patients was difficlut because of associated mental retardation, hypothyroidism and psoriasis. Radiographic alterations included soft-tissue masses and calcification, with typical erosive abnormalities and predilection for the hands and feet. The sacroiliac joints were abnormal in two patients.
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PMID:Early-onset gouty arthritis. 120 73

One percent of Canada's population are long-term residents of health care institutions. Of this group an estimated 97% have a disabling condition. This article profiles disabled people living in institutions using data from the Health and Activity Limitation Survey (HALS) undertaken by Statistics Canada. HALS collected data on: the nature, number and severity of disabilities; the underlying causes of the disabilities; and the degree of assistance required for daily activities. For the institutional component of HALS, a sample of 19,000 disabled individuals from 1,100 institutions was used. The institutional survey indicated that almost 80% of the disabled population in institutions were aged 65 or older, while about 90% had mobility and/or agility-related disabilities. The most frequently cited underlying cause of disability for respondents living in both institutions and households was disease or illness. Among young adults in institutions, mental retardation was the main disabling condition. Among the elderly, diseases of the musculoskeletal system and connective tissue (including arthritis) were most common. Most respondents in institutions required daily help with personal care, shopping and personal finances.
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PMID:Canada's disabled population in institutions. 215 86

Both animal and vegetable life depend for their existence on appropriate amounts of various trace elements, albeit in very small amounts. This paper lists some of these trace elements and the ailments in which they play an important role. The elements discussed are gold, platinum, copper, lead, zinc, aluminium, silica, mercury, cadmium, selenium, arsenic, and iodine. The diseases involved range from multiple sclerosis, various cancers, arthritis, goitre, Down's Syndrome, and mental retardation. Less well known are Keshan, Alzheimer's, Itai-Itai, and Minamata diseases. Of particular interest in the latter part of the twentieth century is the discovery that serious deficiencies of either copper or zinc in the diet of animals may break down their immune defence mechanisms. The ability of certain plants selectively to concentrate particular heavy metals in their tissues and pollen is discussed.
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PMID:Geology, trace elements and health. 268 20

A 4-year-old girl with neonatal onset of chronic diffuse urticarial rash, head enlargement, protruding eye balls, bilateral arthritis of the knees, growth and mental retardation, and signs in blood and cerebrospinal fluid of chronic inflammation is presented and compared to two similar cases reported by us previously. Including this new patient there are now 14 documented cases with this specific inflammatory syndrome whose aetiology remains unknown. In the present case, however, elevated antibody titres against I.ric. Borrelia antigen were found in the serum.
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PMID:Infantile multisystem inflammatory disease: another case of a new syndrome. 370 76

Recent studies have confirmed that gout is an inborn error of metabolism. It has now become evident that the hyperuricemia associated with gout might occur either due to overproduction of uric acid, underexcretion of uric acid or a combination of these processes. Furthermore, patients with excessive purine synthesis may have a specific enzyme defect resulting in altered feedback inhibition of purine synthesis. A neurological disease manifest by mental retardation, choreo-athetosis, aggressive behavior, lip-biting and self-mutilation and associated with decidedly increased purine biosynthesis serves as a prototype of this kind of disorder. Other defects in regulation of purine biosynthesis have been postulated but their existence not yet confirmed. It has been demonstrated that urate crystals which are deposited from hyperuricemic body fluids set up an acute inflammatory reaction by means of a variety of chemical mediators. Thus, acute gouty arthritis is now recognized as an example of "crystal induced" synovitis. The treatment of gout consists of (1) the control of acute gouty attacks, and (2) the maintenance of normal serum uric acid concentrations. This latter may be achieved either with uricosuric drugs or with xanthine oxidase inhibition. With these principles in mind, it is now possible to avoid many of the severe crippling effects of gout and to restore the vast majority of gouty patients to useful and productive lives.
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PMID:Current concepts of hyperuricemia and gout. 577 83

Three unrelated children (one girl and two boys) have had since birth a syndrome characterized by a permanent skin rash which becomes more intense during flare-ups associated with fever, lymphadenopathy, splenomegaly, and arthritis symmetrically involving the large joints. In one boy, typical psoriasis was observed at age 3 years. In two patients, roentgenograms of the joints showed early patellar ossification and an abnormal epiphyseal appearance. The three children also had neurologic involvement, with mental retardation, enlarged head circumference, eye lesions, late closure of the anterior fontanel, and a chronic meningitis with infiltration by polymorphonuclear cells. No immunologic abnormalities were found, but polymorphonuclear cells infiltrated the skin, lymph nodes, synovial fluid, and CSF.
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PMID:Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. 725 69

Health practitioners (N = 665) from the Chinese, Italian, German, Greek, Arabic and Anglo Australian communities used social distance scales to rate the attitudes of people in their communities toward 20 disability groups. Significant differences were found in community attitudes toward people with 19 of these disabilities. Overall the German community expressed greatest acceptance of people with disabilities, followed by the Anglo, Italian, Chinese, Greek and Arabic groups. However the relative degree of stigma attached to the various disabilities by the communities was very similar. In all communities, people with asthma, diabetes, heart disease and arthritis were the most, and people with AIDS, mental retardation, psychiatric illness and cerebral palsy, the least accepted of the disability groups. These stigma hierarchies were remarkably similar to other hierarchies reported over the last 23 years. The findings have important implications for people with disabilities and health practitioners in multicultural societies.
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PMID:Attitudes towards disabilities in a multicultural society. 845 31

The purpose of the National Exposure Registry is to assess the long-term health consequences to a general population from long-term, low-level exposures to specific substances in the environment. This study investigates the health outcomes of 1,143 persons (1,127 living, 16 deceased) living in south central Texas who had documented environmental exposure to benzene (up to 66ppb) in tap water. As with all subregistries, face-to-face interviews were used to collect self-reported information for 25 general health status questions. Using computer-assisted telephone interviewing, the same health questions were asked 1 year (Followup 1, F1) and 2 years later (Followup 2, F2). The health outcome rates for Baseline and Followup 1 and 2 data collections for the Benzene Subregistry were compared with national norms, that is, the National Health Interview Survey (NHIS) rates. For at least one of the three reporting periods, specific age and sex groups of the Benzene Subregistry population reported more adverse health outcomes when compared with the NHIS population, including anemia and other blood disorders, ulcers, gall bladder trouble, and stomach or intestinal problems, stroke, urinary tract disorders, skin rashes, diabetes, kidney disease, and respiratory allergies. Statistically significant deficits for the Benzene Subregistry population overall were found for asthma, emphysema, or chronic bronchitis; arthritis, rheumatism, or other joint disorders; hearing impairment; and speech impairment. No statistically significant differences between the two populations were seen for the outcomes hypertension; liver disease; mental retardation; or cancer. These results do not identify a causal relationship between benzene exposure and adverse health effects; however, they do reinforce the need for continued followup of registrants.
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PMID:The National Exposure Registry: analyses of health outcomes from the benzene subregistry. 956 45

Physical disorders and pharmacotherapy for all 134 people with mental retardation ages 65 years and over living in Leicestershire, United Kingdom, were examined. Results were compared with a randomly selected group of 73 younger adults with mental retardation. Group comparisons revealed higher rates of urinary incontinence, immobility, hearing impairments, arthritis, hypertension, and cerebrovascular disease among the older group. The younger group had higher rates of dermatological disorders; congenital heart disease; ear, nose, and throat (ENT) disorders; and neurological disorders (excluding Parkinson disease). The older group took more drugs for physical illness. The effect of ageing on physical morbidity outweighs the effect of people with more severe mental retardation dying younger: Older people with mental retardation have significant physical health needs.
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PMID:Clinical study of the effects of age on the physical health of adults with mental retardation. 960 67

Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied by malaise, headache, diarrhea, abdominal pain, vomiting, skin rashes, arthralgia, arthritis, tender lymphadenopathy, hepatosplenomegaly, and oral and genital ulcers. Laboratory evaluation during fever shows granulocytosis and elevated acute phase reactants. DPF is caused by a deficiency of the enzyme mevalonate kinase (MK). Besides DPF, the spectrum of MK deficiency includes a severe phenotype, mevalonic aciduria (MA). MA patients have less residual MK activity, leading to substantially higher urinary mevalonic acid excretion than in DPF. Mevalonic aciduria is characterized by mental retardation and dysmorphic features in addition to the clinical features of DPF. At the genomic level, several mutations of varying severity have been identified. The DPF phenotype is caused by one particular mild missense mutation. Most patients are compound heterozygotes for this mutation and a more severe mutation. The mechanism by which MK deficiency leads to fever is not understood. The vast majority of DPF patients have persistently elevated serum IgD and can be classified as having hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). Conversely, most HIDS patients have MK deficiency and hence DPF, but the two disorders do not overlap entirely.
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PMID:Mevalonate kinase deficiency and Dutch type periodic fever. 1094 35


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