ABSTRACT
Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist with other cranial nerves palsies, mostly those found in the dorsal pons and medulla oblongata. MBS is considered a "rare" disease, occurring in only 1:50,000 to 1:500,000 live births, with no gender predominance. Three independent theories have been described to define its etiology: the vascular theory, which talks about a transient blood flow disruption; the genetic theory, which takes place due to mutations related to the facial motor nucleus neurodevelopment; and last, the teratogenic theory, associated with the consumption of agents such as misoprostol during the first trimester of pregnancy. Since the literature has suggested the existence of these theories independently, this review proposes establishing a theory by matching the MBS molecular bases. This review aims to associate the three etiopathogenic theories at a molecular level, thus submitting a combined postulation. MBS is most likely an underdiagnosed disease due to its low prevalence and challenging diagnosis. Researching other elements that may play a key role in the pathogenesis is essential. It is common to assume the difficulty that patients with MBS have in leading an everyday social life. Research by means of PubMed and Google Scholar databases was carried out, same in which 94 articles were collected by using keywords with the likes of "Moebius syndrome," "PLXND1 mutations," "REV3L mutations," "vascular disruption AND teratogens," and "congenital facial nerve palsy." No exclusion criteria were applied.
Subject(s)
Facial Paralysis , Mobius Syndrome , Humans , Mobius Syndrome/genetics , Mobius Syndrome/diagnosis , Teratogens/toxicity , Facial Nerve , Mutation , DNA-Directed DNA Polymerase/genetics , DNA-Binding Proteins/geneticsABSTRACT
Resumen: El remimazolam es una nueva benzodiacepina que combina las propiedades farmacológicas de dos agentes utilizados en la anestesia: el efecto hipnótico del midazolam y el metabolismo del remifentanilo. El remimazolam se hidroliza por esterasas tisulares inespecíficas a metabolitos inactivos, permitiendo una alta depuración y recuperación rápida. Por sus propiedades farmacológicas, se ha propuesto su uso como un agente de acción ultracorta en procedimientos de sedación fuera de quirófano, inducción, mantenimiento de la anestesia y de sedación en la unidad de terapia intensiva. El perfil de seguridad del remimazolam es amplio, ya que sus efectos hemodinámicos y cardiorrespiratorios son menos marcados que otros fármacos empleados en dichos procedimientos. Como otras benzodiacepinas, los efectos del remimazolam pueden ser revertidos con flumazenil. Hasta el momento, el remimazolam ha demostrado ser un agente hipnótico eficaz; sin embargo, se requiere mayor investigación para establecer su utilidad clínica.
Abstract: Remimazolam is a new benzodiacepine that combines the pharmacological properties of two agents used in anesthesia: the hypnotic effect of midazolam and the metabolism of remifentanyl. Remimazolam is hydrolized by nonspecific tissue esterases into inactive metabolytes, allowing high clearance and fast recovery. Due to its pharmacological characteristics, it has been proposed as an ultra- short acting agent for sedation out operating room, induction and maintenance of anesthesia, as well as for sedation in the Intensive Care Unit. Remimazolam has an elevated safety profile, as it might that, it has less pronounced hemodynamic and cardiorespiratory effects in contrast to other drugs used in the same procedures. Like other benzodiacepines, remimazolam effects can be reversed with flumazenil. Remimazolam has proven to be an effective hypnotic agent, however further research and clinical evaluation is required to establish its use.
