Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present a review of 21 cases with the diagnosis of type I amyloid neuropathy based on epidemiological data, clinical evolution and histopathological findings. They call attention to the possibility of cranial nerves involvement (hyposmia, diplopia, masseterian hypotrophy, peripheral facial paralysis, hypoacusis, dysphonia, laryngeal paralysis, dysphagia, and trapezium muscle hypotrophy), to the severeness of the digestive symptoms, to the precocity of the autonomic disorders, and to the rather high incidence (6 cases) of heart involvement. The electromyography showed anterior horn involvement in 3 cases. The electrocardiography showed repolarization disorders in 11 cases, left ventricular overload in 6 cases and atrioventricular block in 5 cases. The serum proteins electrophoresis showed frequent abnormalities, but no typical curve could be obtained. The barium-contrasted X-rays of the gastrointestinal tract showed no anatomical lesions, but functional abnormalities (hypo or hypermotility) were found in 14 examination. The Schilling test showed impairment of vitamin B12 absorption in 50% of the cases. However, with the concomitant administration of intrinsic factor (3 cases) there was improvement of it absorption. This proves that the gastric mucosa plays an important role in the disease malabsorption. The test with labeled-triolein showed slow absorption in 2 cases and steatorrhea in 3 (6 tests). For the confirmation of the amyloid deposits, the best histopathological procedure was nerve biopsy. In men, when the nerve biopsy was negative, testicular biopsy has shown to be a good option.
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PMID:Type I primary neuropathic amyloidosis (Andrade, portuguese). 114 94

Ocular signs and symptoms provide clinical clues to many of the more common metabolic and nutritional disorders seen in older adults. Diabetes mellitus can affect all parts of the eye and orbit. Complications include refractive visual loss, macular edema, retinopathy, increased risk of fungal infection, and diplopia. In patients with gout, urate crystals may precipitate in the eye and cause conjunctivitis, uveitis, or scleritis. Other problems are seen with Wilson's disease, hyperlipidemia, and albinism. Nutritional disorders usually arise from malabsorption, gastrointestinal surgery, and alcohol abuse. Deficiencies in vitamins A, B1 (thiamine), B12, and C may be manifest in the eye.
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PMID:Clues in the eye: ocular signs of metabolic and nutritional disorders. 760 60

Background. Wernicke's encephalopathy (WE) is an acute neurological disorder resulting from thiamine deficiency. It is mainly related to alcohol abuse but it can be associated with other conditions such as gastrointestinal disorders. This vitamin deficiency can also present with cardiovascular symptoms, called "wet beriberi." Association with folate deficit worsens the clinical picture. Subject. A 70-year-old man with gastric phytobezoar presented with gait instability, dyspnoea, chest pain associated with right heart failure and pericarditis, and folate deficiency. Furosemide was administered and cardiac symptoms improved but he soon developed vertiginous syndrome, nystagmus, diplopia, dysmetria, and sensitive and motor deficit in all four limbs with areflexia. Results. A cerebral magnetic resonance imaging (MRI) showed typical findings of WE. He was immediately treated with thiamine. Neurological symptoms improved in a few days and abnormal signals disappeared in a follow-up MRI two weeks later. Conclusion. Patients with malabsorption due to gastrointestinal disorders have an increased risk of thiamine deficiency, and folate deficiency can make this vitamin malabsorption worse. An established deficiency mainly shows neurological symptoms, WE, or rarely cardiovascular symptoms, wet beriberi. Early vitamin treatment in symptomatic patients improves prognosis. We recommend administration of prophylactic multivitamins supplements in patients at risk as routine clinical practice.
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PMID:Wernicke's Encephalopathy, Wet Beriberi, and Polyneuropathy in a Patient with Folate and Thiamine Deficiency Related to Gastric Phytobezoar. 2669 47

A 41-year-old woman has come to our attention complaining of decreased visual acuity and monocular diplopia associated with upper and lower limb hypoesthesia. Malabsorption syndrome with vitamin A and E deficiency developed after a bariatric biliopancreatic diversion. The clinical ophthalmological signs and symptoms improved after oral vitamin supplementation therapy. The past medical history is essential in the case of a patient complaining of visual symptoms compatible with vitamin deficiency in order to detect the cause and to start a prompt therapy to avoid irreversible neurological and visual sequelae. The clinical features of our case closely resemble other cases described in the literature of patients affected by vitamin A and E deficiency secondary to malabsorption syndrome.
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PMID:Ophthalmologic evaluation in vitamin-E deficiency: A case report. 3314 45