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1.
Tetrahedron Lett ; 58(23): 2258-2260, 2017 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-32287448

RESUMEN

The catalyst-free, regioselective synthesis of 4'-O-substituted pyridoxine derivatives under solventless conditions is described. The methodology relies on the highly regioselective formation of the ortho-pyridinone methide from pyridoxine and subsequent oxa-Michael addition of alcohol nucleophiles. This methodology provides good to excellent yields for primary and secondary alcohols and moderate yields for tertiary alcohols.

2.
Cureus ; 13(3): e14012, 2021 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-33884253

RESUMEN

A microdeletion in the 15q13.3 locus is an exceedingly rare condition affecting the CHRNA7 gene. There have been 11 pediatric cases of this mutation reported worldwide. Clinical characteristics of the 15q13.3 microdeletion are rapid-onset obesity, hypotonia, autism, seizures, congenital cardiac defects, and neuropsychiatric disorders including impulsive hyperphagia. We describe the case of a four-year-old female with CHRNA7 15q13.3 microdeletion presenting with morbid obesity due to impulsive food-seeking behavior. We have also conducted a literature review on 15q13.3 microdeletion and compared the clinical features with other rapid-onset obesity disorders in the pediatric population. The goal of this case report is to increase awareness concerning CHRNA7 15q13.3 microdeletion as part of the differential diagnosis of rapid-onset obesity associated with neuropsychiatric disorders in pediatrics.

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