Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. Analysis of the present and previously reported cases showed a wide range of interfamilial variability which may point to the existence of multiple allelism or genetic heterogeneity in this syndrome.
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PMID:Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. 335 89

Patients with upper airway obstruction during sleep are at constant risk of hypoxic and hypercarbic episodes and are especially vulnerable during anaesthesia and sedation as the abnormal anatomy is compounded by drug-related respiratory depression. Elective procedures in patients with the obstructive sleep apnoea (OSA) should be usually delayed, allowing for the preoperative home treatment (diet, alcohol abstinence, nasal CPAP/BiPAP during night). Respiratory supportive techniques, started at home, should be continued in the hospital, both in preoperative and postoperative periods. Patients with OSA should be also thoroughly examined for possible anatomic abnormalities of the upper airway that may complicate laryngoscopy and/or intubation. Heavy premedication should be avoided; in special cases of very nervous patients oral clonidine may be used. Careful preoxygenation is mandatory, opioids should be used sparingly. Muscle relaxant should be calculated for an ideal body weight. Isoflurane should be avoided. The OPS and obese patients are usually extubated in the sitting or lateral positions to avoid limitation of FRC by elevated diaphragm. In selected cases, prolonged intubation and/or ventilation are recommended. Regional anaesthesia are usually safe in these patients, however, opioids should be used carefully. When sedation is required, ketamine or dexmedetomidine may be used.
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PMID:[Perioperative risk in patients with sleep apnoea]. 1946 21