Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prader-Willi Syndrome (PWS), first described in 1956, is a unique genetic condition with a prevalence of 1 in 10,000 - 25,000. Features include severe lifelong hypotonia, insatiable appetite, short stature, obsessive-compulsive behaviour, morbid obesity, hypogonadism, kyphosis, scoliosis and osteoporosis. Studies beginning in the 1970s demonstrated that PWS is associated with a deficiency in growth hormone. Growth hormone treatment in children with PWS improves linear growth and more importantly leads to an increased muscle mass, bone mineral density and physical performance. In mid-2000, growth hormone became the first pharmaceutical approved in the US and Europe for the treatment of childhood PWS. It is now considered an essential part of comprehensive care for this condition. Ongoing studies address issues of growth hormone dosage, long-term efficacy, effects on neonatal and childhood growth and development and effects in adults with PWS.
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PMID:Disease management of Prader-Willi syndrome. 1238 91

A patient with Klippel-Feil syndrome, morbid obesity, and scoliosis required cesarean delivery. Her previous cesarean deliveries were performed under general anesthesia. She desired a regional technique. Following aspiration prophylaxis and placement of standard monitors, ultrasound was used to identify midline and L(2-3) interspace. Unintentional dural puncture occurred at 10 cm, with an inability to advance the catheter. On second attempt, an epidural catheter was placed easily. After negative test dose, 18 ml of 2% lidocaine with epinephrine was administered to the patient. A T4 level was achieved. The patient tolerated surgery well. Complete block resolution occurred at 4 hours with no neurologic sequelae.
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PMID:Epidural anesthesia for repeat cesarean delivery in a parturient with Klippel-Feil syndrome. 2189 12