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)

We report on a 43-year-old patient with short stature (hyposomia), allegedly the result of vitamin-D-resistant rickets, previously treated for ankylosing spondylitis. In addition, a uricostatic drug therapy was also necessary because of hyperuricemia with gout attacks. Further examinations revealed the accurate diagnosis: Rathbun's disease. Hypophosphatasia is a hereditary disorder characterized by a deficiency of liver/bone/kidney alkaline phosphatase activity in serum and tissues with defective bone mineralization, bone deformities, short stature, early loss of teeth, and craniosynostosis. In our patient radiographic features were spinal hyperostosis, but with syndesmophytes, chondrocalcinosis of peripheral joints and intervertebral discs, calcific periarthritis and premature closure of skull sutures. Curved ribs and short stature were suggestive of rickets. The aim of this case report is to demonstrate the close relations between hypophosphatasia and spondylitis ankylosans in respect to radiology and clinical symptoms.
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PMID:[Rathbun syndrome (hypophosphatasia). Clinical aspects: dwarfism and Bechterew symptoms]. 179 58

The clinical features and biochemical profile of 10 patients with Renal Tubular Acidosis (RTA) were described. The commonest mode of presentation was muscular weakness due to severe hypokalaemia in 5 patients while the other 5 presented with renal colic, haematuria or passage of gravel. Nine patients had nephrocalcinosis on X-rays and one had rickets. All the patients had Type I RTA, 2 of whom presenting initially with Incomplete Type I RTA which progressed to Complete Type I RTA. Two other patients had associated features of proximal tubular involvement evidenced by hypophosphatemia, hypouricemia, hyperphosphaturia, aminoaciduria and glycosuria. Six of the 10 patients had secondary RTA: 2 associated with medullary sponge kidneys, 2 with gout, 1 with idiopathic hypercalciuria and hyperuricosuria and the remaining patient with systemic lupus erythematosus.
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PMID:Renal tubular acidosis. 370 33

The causes of the most common diseases are now well known. This knowledge makes it possible to prevent them. Child mortality has been drastically reduced during the present century due to the eradication of infectious diseases. This target was reached by means of general immunization programmes and health education of the entire population. Other diseases were eliminated by changes of nutrition habits (gout) and by active substitution of vitamins (rickets) or by administration of minerals (caries, goitre). Diseases that are responsible for man not attaining his genetic life-span can only be eradicated by changing the style of living. With transmission of modern medical experience it is practicable to promote health and to avoid diseases. It is therefore indispensable to organize early recognition of diseases in children and juveniles, to implement full immunization programmes and to promote health education programmes for children, parents and teachers. Health promotion programmes are only effective if they reach the young people of the entire population. This is only possible through the Public Health service. Health promotion in this sense is no longer a fiction but an all-time duty of school doctors. A basic prerequisite for this function is permanent postgraduate medical education of school doctors and constant cooperation between physicians and educationalists.
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PMID:[Health promotion in the school--fiction or central responsibility of school medicine?]. 791 2

Excessive specialization and high production requirements place high demands on the metabolism of poultry. A number of metabolic problems, such as disturbances of energy metabolism (affecting mainly hens) and mineral balance (affecting mainly laying hens), affect performance. Nearly all these problems are multifactorial in nature, but diet, and in particular the interaction between diet and phenotype, plays an important role. The problem of ascites in broiler hens is discussed in relation to external and genetic causative factors. Genetic factors can be further subdivided into structural and functional causative factors. This distinction has important consequences. For example, sudden death syndrome can be distinguished as a separate entity. Fatty liver syndrome in laying hens, and gout and urolithiasis in chicks and hens are briefly discussed. Finally, some of the most important or most common skeletal problems affecting poultry, namely, tibial dyschondroplasia, battery fatigue, rickets, and chondrodystrophy, are briefly discussed in the context of the dietary factors that underlie these disorders or which can be used as treatment.
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PMID:[Metabolic insights and nutrition of poultry]. 992 99

This essay examines the medical debates over hereditary disease and moral hygiene in France between 1748 and 1790. During this time, which was marked by two formal academic exchanges about pathological inheritance, doctors critically studied the existence of hereditary diseases--including syphilis, arthritis, phthisis, scrofula, rickets, gout, stones, epilepsy, and insanity--and the problems that heredity might pose for curing and preventing these diseases. Amid public debate, doctors first treated heredity with formal skepticism and then embraced the idea. Their changing attitudes stemmed less from epistemological or cognitive reasons than from new cultural beliefs about gender, domesticity, and demographic policy. Fearing moral degeneracy and demographic decline, they argued that a number of social pathologies were truly hereditary and that these diseases spread within the family itself. These beliefs were seemingly confirmed by new clinical studies on tuberculosis. Though doctors conceded that hereditary diseases might limit Enlightenment hopes to perfect society, they also suggested that sexual hygiene and physical education could cure hereditary degeneracy and transcend genealogy and descent. Consequently, they stressed that physical regeneration was a dynamic process, one that stretched from the conjugal bed to weaning and beyond. Rather than accepting the accidents of birth, physicians believed that their patients could self-consciously overcome inherited defects and thus regenerate themselves and even all of society itself. Heredity thus gave doctors an idiom with which to diagnose a felt social crisis and to prescribe appropriate hygienic responses.
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PMID:Inheriting vice, acquiring virtue: hereditary disease and moral hygiene in eighteenth-century France. 1724 50