Biskup, NI; Pan, BS; Elhadi-Babiker, H; Hathaway, RR; van Aalst, J; Gordon, CB. Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. Journal of Craniofacial Surgery. 2018; 29(3):692-697.
Mandibulofacial dysostosis (Treacher Collins and Nager syndrome) is a rare disorder (1/50,000 live births) with features that includes hypoplastic orbitozygomatic complex with downward slanting eyes, and maxillary/mandibular retrusion. Obstructive sleep apnea and tracheostomy-dependence are commonly associated with these patients, representing a surgical challenge due to their hypoplastic facial skeleton. This study presents the outcomes of one of the largest clinical series reported in this patient population, utilizing maxillomandibular distraction to avoid of tracheostomy and decannulation.
Elliott, KH; Millington, G; Brugmann, SA. A novel role for cilia-dependent sonic hedgehog signaling during submandibular gland development. Developmental Dynamics. 2018; 247(6):818-831.
Development of the submandibular gland (SMG) is somewhat overlooked despite the importance of saliva for digestion and oral hygiene. This manuscript built a compelling model for the involvement of cilia-dependent Shh signaling in the development of this gland, acting through the Gli activator, Egf/ErbB signalling, and neuregulins, and eventually innervation of the SMG epithelium. The authors convincingly show that it is the loss of Gli activator, rather than Gli repressor, that is responsible for the aplasia and implicate Nrg1 and one of the potential downstream targets as being at least partially responsible for the lack of SMG development. It was a bit surprising to learn that there has not been a report of SMG abnormalities in human ciliopathies, but perhaps that is a phenotype waiting discovery in the light of this new evidence for another role of cilia-dependent Shh signaling. This manuscript received a cover photo and highlight in F1000.
Li, C; Lan, Y; Krumlauf, R; Jiang, R. Modulating Wnt Signaling Rescues Palate Morphogenesis in Pax9 Mutant Mice. Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists. 2017; 96(11):1273-1281.
Each year, over 120,000 children are born with a cleft lip and/or cleft palate, a life-impairing birth defect for which the causes are mostly unknown and currently there is no effective strategy for prevention. In this study, we used mouse genetics approaches to uncover the molecular mechanisms underlying palate development and applied the knowledge gained to successfully prevent cleft palate in a genetically pre-disposed mutant mouse model by treating the pregnant mother with small molecule-mediated modulation of the Wnt signaling pathway during the time window of fetal palate morphogenesis. These results provide a solid foundation for further investigating the underlying mechanisms that integrate the various molecular pathways controlling palate development and applying the knowledge toward development of better strategies for treatment and prevention.
Vu, AT; Sparkman, DM; van Belle, CJ; Yakuboff, KP; Schwentker, AR. Retropharyngeal Contralateral C7 Nerve Transfer to the Lower Trunk for Brachial Plexus Birth Injury: Technique and Results. Journal of Hand Surgery (American Volume). 2018; 43(5):417-424.
This is the first published report of a series of patients with severe brachial plexus injury treated by routing a nerve transfer from the uninjured side through the neck to decrease nerve graft length. We were able to demonstrate the safety of the procedure by evaluating complications related to the donor limb and to the retropharyngeal dissection, which were both minor and transient. The report presented long term results of our first five patients, all of whom were able to regain functional hand grasp, which had been difficult to achieve in patients with these severe injuries prior to this technique.
Emodi, O; Ginini, JG; van Aalst, JA; Shilo, D; Naddaf, R; Aizenbud, D; Rachmiel, A. Cleft Palate Fistula Closure Utilizing Acellular Dermal Matrix. Plastic and Reconstructive Surgery Global Open. 2018; 6(3):e1682-e1682.
Fistulas, or holes, after surgical closure of a cleft palate are problematic, causing persistent difficulties with speaking and eating. Each subsequent attempt to close a fistula results in a higher percentage of failure. Given this background, we examined the use of acellular dermal matrix (a tissue substitute) as an adjunct to closure of fistulas. In a group of 20 patients with multiple unsuccessful attempts to close a fistula, we added a layer of dermal matrix as part of the surgery to close the fistula. This addition improved successful fistula closure to significantly higher rates than without the use of this matrix.