Objective: Determine what parents of children with cleft lip and palate value in online educational videos and evaluate whether their needs are currently being met. Design: Focus groups and telephone interviews were used to define parent information needs, followed by an evaluation of whether currently available YouTube videos meet these needs. Setting: British Columbia Children’s Hospital multidisciplinary cleft clinic. Participants: Twenty-four parents of children with nonsyndromic cleft lip and palate. Results: Parents desired videos that are accessible, trustworthy, relatable, and positive. Parents preferred a series of short videos addressing relevant topics as their child grows. Currently available YouTube videos only partially met these needs, with underrepresented topics including hearing, dentition, and surgeries for older children. Conclusions: While access and validity of video resources can be improved by directing patients and families to appropriate videos, some parent needs remain unmet.
BackgroundHelios (encoded byIKZF2), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4+regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.MethodsWe performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation combined with syndromic features including craniofacial differences, sensorineural hearing loss and congenital abnormalities.ResultsGenome sequencing revealedde novoheterozygous variants that alter the critical DNA-binding zinc fingers (ZFs) of Helios. Proband 1 had a tandem duplication of ZFs 2 and 3 in the DNA-binding domain of Helios (p.Gly136_Ser191dup) and Proband 2 had a missense variant impacting one of the key residues for specific base recognition and DNA interaction in ZF2 of Helios (p.Gly153Arg). Functional studies confirmed that both these variant proteins are expressed and that they interfere with the ability of the wild-type Helios protein to perform its canonical function—repressingIL2transcription activity—in a dominant negative manner.ConclusionThis study is the first to describe dominant negativeIKZF2variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
DISCLOSUREThe authors have no financial interest to declare in relation to the content of this article. Fig. 1. A 60-year-old woman who underwent resection of a liposarcoma on the right shoulder. (Left) The location of the perforating branches of the tenth intercostal artery in the lateral part of the latissimus dorsi muscle was detected by color Doppler sonography. The divided latissimus dorsi flap was designed to include the perforator in the distal flap. (Right) Three months after primary closure of the donor site.REFERENCES 1. Zhang YX, Messmer C, Pang FK, et al. A novel design of the multilobed latissimus dorsi myocutaneous flap to achieve primary donor-site closure in the reconstruction of large defects. Plast Reconstr Surg. 2013;131:752e-758e. 2. Sawaizumi M, Maruyama Y. Sliding shape-designed latissimus dorsi flap. Ann Plast Surg. 1997;38:41-45.
Question A 4-year-old child presented to my office recently with a 2-cm forehead laceration. The child had needle phobia and was very upset, so suturing in the office might have been very challenging. The parents were also concerned about the use of suture. Can topical skin adhesives (TSAs) be used instead of sutures, and what factors should be considered?Answer Lacerations in children are common and TSAs are useful alternatives to sutures. They achieve comparable outcomes to suturing in appropriately selected wounds. Appropriate lacerations are small, superficial, appropriately cleaned, and have well approximated edges that are not under tension. Complications such as wound dehiscence and infection are rare and cosmetic outcomes are comparable to sutures. Using TSAs can also save time, minimize patient anxiety, and eliminate the need for suture removal.
Les adhésifs cutanés topiques pour réparer les lacérations chez l'enfant RésuméQuestion Un enfant de 4 ans s'est récemment présenté à ma clinique avec une lacération de 2 cm sur le front. L'enfant avait une phobie des aiguilles et était très énervé, ce qui aurait grandement compliqué la tâche de faire une suture à la clinique. Les parents étaient aussi préoccupés par le recours à la suture. Les adhésifs cutanés topiques (ACT) peuvent-ils être utilisés au lieu des sutures, et de quels facteurs faut-il tenir compte? Réponse Les lacérations sont fréquentes chez les enfants, et les ACT sont d'utiles solutions de rechange aux sutures. Ils produisent des résultats comparables à ceux des sutures dans le cas de certaines plaies sélectionnées de façon appropriée. Pour être appropriée, la lacération doit être petite, superficielle, adéquatement nettoyée, et ses bords doivent être bien rapprochés, sans tension. Les complications comme la déhiscence et l'infection de la plaie sont rares et, sur le plan esthétique, les résultats sont comparables à ceux des sutures. L'utilisation des ACT peut aussi épargner du temps, atténuer l'anxiété du patient et éliminer la nécessité d'enlever les points de suture.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.