Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Disorders of breathing related to sleep are relatively newly recognized and less than fully understood. This review presents the terminology used to describe them, and describes the physiology of sleep and the control of ventilation, the pathophysiology of breathing disorders during sleep, their various clinical manifestations, current diagnostic techniques, and the treatment modalities available at present. Among the diagnostic approaches discussed are airway fluoroscopy during sleep, pneumography, and polysomnography. Approaches to medical and surgical management of these disorders are reviewed. Speculation regarding the underestimation of the prevalence of these disorders, the male predominance, and their relationship to snoring, coronary artery disease, and hypertension, which also show male predominance, are presented. Also suggested is a relationship of sleep apnea, obesity, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and Prader-Willi syndrome, and in other endocrine dysfunction diseases.
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PMID:Sleep-related breathing disorders. 702 76

Homocyst(e)ine [H(e)], the sum of homocysteine, homocystine, and the homocysteine-cysteine mixed disulfide, free and protein-bound, has been shown to be associated in retrospective case control studies, and in one prospective study, with vascular disease, including coronary artery disease (CAD), cerebrovascular disease, and peripheral vascular disease. Elevated levels of homocyst(e)ine severe enough to cause homocystinuria are seen in severe nutritional deficiencies of vitamin B12, folic acid and vitamin B6. Rare genetic disorders of vitamin B12 synthesis of 5'-10'-methylene tetrahydrofolate reductase, or the pyridoxal phosphate-dependent enzyme cystathionine beta-synthase may cause severe hyperhomocyst(e)inemia and homocystinuria. The clinical manifestation of these disorders are mental retardation, neurological disorders, and widespread thromboembolic phenomena. The measurement of H(e) is currently performed using high-pressure liquid chromatography with fluorescence detection. Other methods, especially mass spectroscopy, are also used. Internal standards using increasing concentrations of homocystine and acetylcysteine and several external standards are used to ensure accuracy of the assay. Milder elevations of H(e) have recently been associated with vascular disease, in both men and women. The strength of this association appears to be stronger for peripheral and cerebrovascular disease than for CAD. Nevertheless, several case control studies in Europe, Canada, and the United States have shown that H(e) levels are elevated in CAD patients compared with controls, and H(e) levels are independent of the conventional cardiovascular risk factors (age, gender, lipid and lipoprotein cholesterol levels, hypertension, or cigarette smoking). One prospective study, the Physicians' Health Study, has shown that H(e) levels are slightly but significantly higher in CAD cases vs controls in a population of US physicians.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Measurement of homocyst(e)ine in the prediction of arteriosclerosis. 762 74

Mucopolysaccharidosis (MPS) is a rare metabolic disease characterized by abnormal accumulation and excretion of mucopolysaccharides. Patients with MPS have many anesthetic problems including ischemic heart disease, valve insufficiency, difficult intubation, joint stiffness and mental retardation. We report a case of Scheie syndrome, a mild type of MPS, which presented a unique problem of difficult intubation. The patient was a 35 year old woman, scheduled for anterior fixation of the 4th lumbar vertebra. Her manifestations included low height, corneal clouding and systemic joint stiffness. Coronary artery disease was suspected from ECG. There was no mental retardation. Mouth opening was possible for about 4.5 cm. After induction with fentanyl, thiopental and vecuronium, intubation under laryngoscopy was tried but impossible because mouth opening was restricted to only 2 cm. Therefore muscle relaxant was reversed with neostigmine and atropine. Then under spontaneous respiration, she was intubated using a bronchofiberscope. It is difficult to explain why her mouth opening was more restricted after induction. We suspect mechanical change of temporomandibular joint or low compliance of the muscles. In conclusion, as reported previously, spontaneous respiration should be maintained until intubation. Especially in a patient with Scheie syndrome, whose mental development is normal, fiberoptic intubation should prove to be useful.
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PMID:[Anesthesia in a patient with Scheie syndrome]. 796 40