Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 41-year-old woman manifested a polyneuropathy, anasarca, pseudotumor cerebri, hyperhidrosis and hyperpigmentation of the skin, generalized lymphadenopathy, distal esophageal dysphagia, pleuritis, platelike pulmonary atelectasis, fluctuating renal insufficiency, hepatosplenomegaly, amenorrhea, and slight fever suggesting a connective-tissue disorder. Extensive clinical and laboratory evaluation did not support the initial impression of progressive systemic sclerosis or systemic lupus erythematosus but did show nonnecrotizing vascular changes, mild polyclonal gammopathy, and low thyroxin levels similar to the syndrome of polyneuropathy and endocrine disturbances recently reported from Japan. The impressive response to moderate-dose corticosteroids and exacerbation on withdrawal require diagnostic awareness of this insidiously progressive multisystem disorder. A bland vasculopathic process resulting from metabolic or immunologic disturbances appears to be the best explanation for this new syndrome, which has previously been recognized only in Japan.
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PMID:Polyneuropathy and anasarca: evidence for a new connective-tissue syndrome and vasculopathic contribution. 125 61

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63

Sarcoidosis is a chronic disease of unknown aetiology. Neurosarcoidosis is registered in 5% of patients with sarcoidosis. Clinical manifestations of sarcoidosis are numerous and diverse. Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, hypogonadotropic hypogonadism, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, peripheral neuropathy, cranial nerve abnormalities, radiculopathies, peripheral neuropathy, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab. 2, Ref. 60).
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PMID:Clinical manifestations of neurosarcoidosis. 1982 43

Lingual thyroid is a rare anomaly with symptoms such as upper airway obstruction, dysphagia, or hypothyroidism. However, bleeding is a very rare manifestation. This report describes a case of lingual thyroid in women with 28 weeks of amenorrhea and hematemesis, and its course of diagnosis and treatment. The pathogenesis of lingual thyroid is unknown. Although ectopic lingual thyroid is usually not managed surgically, excision of ectopic lingual thyroid can be lifesaving when it is causing bleeding or airway obstruction. However, during pregnancy, surgery is the preferred mode of treatment.
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PMID:A Case of Lingual Thyroid Presenting with Severe Hematemesis in Pregnancy. 2713 65