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)

A 28-year-old man with a 5-year history of gouty arthritis suffered from an acute episode of lower back pain. He visited a rehabilitative clinic and received physical therapy following his examination. Weakness and numbness of both lower legs developed rapidly after physical therapy. He was sent to our hospital with complete paralysis of both lower limbs and complete sensory loss below the umbilicus 3 hours after the physical therapy. No peripheral tophi were found. Myelography showed an extrinsic compression of the dura sac at T10. Emergency decompressive laminectomy of T9 to T11 was performed. During the surgery, caseous material was found deposited in the ligamentum flavum and the left T9 to T10 facet joint, with indentation of the dura sac. The pathologic diagnosis was spinal tophi. After surgery, the patient's neurologic function recovered rapidly. It was suspected that inappropriate physical therapy might have aggravated acute inflammation of spinal gout and resulted in a rapid deterioration of neurologic function. Though gout is a chronic medical disease, an acute attack of spinal gout may be disastrous and requires emergency neurosurgical intervention.
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PMID:Acute paraplegia in a patient with spinal tophi: a case report. 1139 17

We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C deficiency (<10 mol/l; normal range: 26-84). The patient's tiredness was attributed to this vitamin C deficiency, which is a frequent side-affect of the fructose-free diet. A change in diet associated with a supplementation in vitamin C was advised, with an increase in vegetable intake, principally avoiding carrots, onions, leaks and tinned sweet-corn. This case offers the opportunity for a review of this rare disease. Two kinds of fructose metabolism disorders (both autosomal recessive) are recognized: 1) essential fructosuria caused by a deficiency of fructokinase, which has no clinical consequence and requires no dietary treatment; 2) HFI, linked to three main mutations identified in aldolase B gene that may be confirmed by fructose breath test, intravenous fructose tolerance test, and genetic testing. In HFI, fructose ingestion generally induces gastro-intestinal (nausea and vomiting, abdominal pain, meteorism) and hypoglycemic symptoms. Fasting is well tolerated. If the condition remains undiagnosed, it leads to liver disease with hepatomegaly, proximal tubular dysfunction, and slow growth and weight gain. In conclusion, endocrinologists should be aware of this rare metabolic disease in order to provide careful follow-up, particularly important when the patient reaches adulthood. Moreover, hypoglycemia induced by fructose absorption, unexplained liver disease, irritable bowel syndrome or familial gout in an adult is suggestive of the diagnosis.
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PMID:Doctor, my son is so tired... about a case of hereditary fructose intolerance. 1803 30

"In the year 1562, having noticed that none of the ancient or modern physicians had treated the subject of dental care, I wrote this first book on the teeth". So begins the preface to the five books of the Opuscula medica senilia by Girolamo Cardano, the first organic text on dentistry in history. It competed with the famous Libellus de dentibus by Bartolomeo Eustachio that appeared in 1563 (but was written in 1562). However, our intention is not to establish precedence but bring to reader's attention Cardano's work that complemented Eustachio's anatomy and physiology of the teeth with their pathology and therapy. This article summarises Cardano's biography and gives a brief review of literature on the De dentibus and of his first complete translation from Latin into Italian. De dentibus is the first of the five books of the Opuscula and is divided into three chapters, as described below. Chapter one, De dentibus, recalls briefly the anatomy and embryology of human teeth as bones and compares them with the teeth of some animals. Follows a description of systemic and local procedures, to preserve, protect, and cure the teeth. Preservation and protection are related to diet, sleep, physical activity, systemic and local medicaments, and amulets., whereas therapy involves remedies taken over from the Ancient Greek and Roman medicine (Hippocrates, Archigenes, Galen, Scribonius, Pliny the Younger, Ezio, Marcellus Empiricus ) and Arabic medicine (Avicenna in particular). The chapter continues with guidelines and procedures for shedding teeth that are damaged beyond repair using a special saltpetre and alum distillate of Cardano's own invention, which he finds very effective. The chapter concludes with tooth extraction tools and methods, especially the one by Scribonius Largo with red-hot iron. Chapter two, -De morbis dentium in specie, describes diseases that affect the teeth and that can cause ache, mobility, weakness, numbness, or deformity (dolor, commotio, imbecillitas, stupor, deformitas). All these conditions may interact, creating a wide range of situations. Ache has seven possible causes that include altered humour, a cavity, a nerve injury, an abscess, breath (flatus), worms, and cold, and Cardano describes the remedies at physician's disposal that even include spells. The causes of mobility are the same as for the ache plus periodontal problems such as dry root or alveolar laxity, and the author discusses local and systemic treatment options. Weakness is considered the worst of the dental pathologies, as it can easily require extraction. Stupor is caused by the corruption of the tooth or a nerve injury, and Cardano refers to it as a life-threatening condition (quoad vitam) in older people if untreated, but also easy to remedy if detected early. Cardano then identifies a whole series of deformities: tooth colour, roughness, fracture, position, number, absence, length, calculus, bad smell, and porosity, and for each of them he offers a wide variety of remedies, in part original and in part borrowed from the ancients. In the last part, Cardano stresses the need to extract as few teeth as possible: "I've never seen anyone die from the diseases of the teeth, except for a tooth extracted inappropriately" To emphasize the dichotomy between medicine and surgery, he explains that tooth care is medical, but extraction requires an experienced surgeon. Chapter three, De fluxione, frequentissima causa morborum dentium, identifies gumboil as a frequent cause of dental disease, and describes the pathogenesis and therapy of gumboil-related diseases, gout in particular.
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PMID:[The 1562 De dentibus by Girolamo Cardano]. 2531 Jun 9