Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Necdin and Magel2 are related proteins inactivated in Prader-Willi syndrome (PWS), a sporadic chromosomal deletion disorder. We demonstrate that necdin and Magel2 bind to and prevent proteasomal degradation of Fez1, a fasciculation and elongation protein implicated in axonal outgrowth and kinesin-mediated transport, and also bind to the Bardet-Biedl syndrome (BBS) protein BBS4 in co-transfected cells. The interactions among necdin, Magel2, Fez1 and BBS4 occur at or near centrosomes. Centrosomal or pericentriolar dysfunction has previously been implicated in BBS and may also be important in the features of PWS that overlap with BBS, such as learning disabilities, hypogonadism and obesity. Morphological abnormalities in axonal outgrowth and fasciculation manifest in several regions of the nervous system in necdin null mouse embryos, including axons of sympathetic, retinal ganglion cell, serotonergic and catecholaminergic neurons. These data demonstrate that necdin mediates intracellular processes essential for neurite outgrowth and that loss of necdin impinges on axonal outgrowth. We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS.
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PMID:Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. 1564 43

In general, preoxygenation is performed using a face mask with oxygen in a supine position, and oxygenation is maintained with manual mask ventilation during electroconvulsive therapy (ECT). However, hypoxic episodes during ECT are not uncommon with this conventional method, especially in morbidly obese patients. The most important property of ventilatory mechanics in patients with obesity is reduced functional residual capacity (FRC). Thus, increasing FRC and oxygen reserves is an important step to improve oxygenation and prevent oxygen desaturation in these individuals. Head-up position, use of apneic oxygenation, noninvasive positive pressure ventilation, and high-flow nasal cannula help increase FRC and oxygen reserves, resulting in improved oxygenation and prolonged safe apnea period. Furthermore, significantly higher incidence of difficult mask ventilation is common in morbidly obese individuals. Supraglottic airway devices establish effective ventilation in patients with difficult airways. Thus, the use of supraglottic airway devices is strongly recommended in these patients. Conversely, because muscle fasciculation induced by depolarizing neuromuscular blocking agents markedly increases oxygen consumption, especially in individuals with obesity, the use of nondepolarizing neuromuscular blocking agents may contribute to better oxygenation in morbidly obese patients during ECT.
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PMID:Prevention of Oxygen Desaturation in Morbidly Obese Patients During Electroconvulsive Therapy: A Narrative Review. 3204 21