Rapid IDH1-R132 genotyping panel utilizing locked nucleic acid loop-mediated isothermal amplification.

While the detection of single-nucleotide variants (SNVs) is important for evaluating human health and disease, most genotyping methods require a nucleic acid extraction step and lengthy analytical times. Here, we present a protocol which utilizes the integration of locked nucleic acids (LNAs) into self-annealing loop primers for the allelic discrimination of five isocitrate dehydrogenase 1 R132 (IDH1-R132) variants using loop-mediated isothermal amplification (LAMP). This genotyping panel was initially evaluated using purified synthetic DNA to show proof of specific SNV discrimination. Additional evaluation using glioma tumor lysates with known IDH1-R132 mutational status demonstrated specificity in approximately 35 min without the need for a nucleic acid extraction purification step. This LNA-LAMP-based genotyping assay can detect single base differences in purified nucleic acids or tissue homogenates, including instances where the variant of interest is present in an excess of background wild-type DNA. The pH-based colorimetric indicator of LNA-LAMP facilitates convenient visual interpretation of reactions, and we demonstrate successful translation to an end-point format using absorbance ratio, allowing for an alternative and objective approach for differentiating between positive and negative reactions. Importantly, the LNA-LAMP genotyping panel is highly reproducible, with no false-positive or false-negative results observed.

Rhinoplasty with Concurrent Repair of Septal Perforation.

Concurrently performing septal perforation repair and rhinoplasty is challenging. Successful management of patients who require or desire these procedures performed simultaneously can be achieved with appropriate preoperative workup and optimization, thoughtful surgical planning, masterful execution, and diligent postoperative care. Consideration of perforation etiology and status of the perforation along with overall nasal health are the foundation upon which surgery may be planned. Preoperative evaluation to determine locations of obstruction, aesthetic goals, and feasibility of procedure is required. Rhinoplasty techniques and perforation closure techniques may share common maneuvers making concurrent surgery possible. Surgical techniques to achieve perforation closure often influence rhinoplasty considerations, and vice versa. Care must be taken to account and possibly even to capitalize on these influences. Perforation closure techniques that may be readily combined with rhinoplasty include interposition grafting and intranasal mucosal rotational advancement flaps, which may exert forces upon the nose with aesthetic or functional consequences. Rhinoplasty techniques targeting any third of the nose also can impact tension or available mucosa for perforation closure techniques. Combining these procedures can be very rewarding for the patient and provider but should be considered responsibly and thoughtfully.

Virtual Surgical Planning in Head and Neck Reconstruction.

Virtual surgical planning is a revolutionary tool for the head and neck reconstructive surgeon. As with any tool, there are strengths and weaknesses. The strengths include shorter operative time, shorter ischemic time, streamlined dental rehabilitation, facilitation of complex reconstruction, non-inferior and possibly superior accuracy, and increased durability. The weaknesses are increased up-front costs, potential delays to operative management, limited flexibility on the day of surgery, and loss of familiarity with conventionally planned surgery.

Implications of traumatic unilateral aryepiglottic fold injury on swallowing: A case series.

OBJECTIVE: This retrospective case series examines the effect of traumatic unilateral aryepiglottic fold injury on swallowing and airway protection. It focuses on the longitudinal care of five pediatric patients to determine the dietary modifications required to maintain a safe, functional swallow. METHODS: Retrospective chart review of patients with a diagnosis of unilateral aryepiglottic fold injury was performed. Cases were clinically identified by pediatric otolaryngologists at a single quaternary care pediatric hospital upon operative endoscopic evaluation. Clinical swallow outcomes were measured with the Rosenbek Penetration Aspiration Scale. RESULTS: Average age at diagnosis was 10 months with mean follow-up of 30 months. Eighty percent of patients were female. All patients had right-sided aryepiglottic fold injuries. Four patients were intubated for an average of 3 months and a fifth patient had a traumatic intubation event. All currently take nutrition by mouth, albeit to varying degrees. Four patients adequately protect their airway from aspiration with all oral consistencies. Optimized delivery of thin liquids yielded a Rosenbek penetration aspiration scale (PAS) score of 1 in four patients and 4 in the remaining patient. Four patients required gastric tube placement during severe illness, and three remain partially dependent. Surgical correction was attempted for one patient without improvement. CONCLUSION: Based on a limited and somewhat heterogeneous case series, the data suggests that traumatic unilateral aryepiglottic fold injury does not prohibit oral intake in most cases. While the PAS score under optimized conditions is impressive, implications for a safely tolerated diet remain. There is sparse published literature upon this topic, and the longitudinal data presented may serve as a pilot study for future investigation by shedding light on the consequences of this airway injury.

Minimally Invasive Nasal Valve Treatment.

The objective of this article is to explore minimally invasive techniques to treat a poorly functioning nasal valve. It reviews the literature to introduce anatomy and examination, detail efficacy, instruct procedural protocols, and summarize utility. The article was composed based upon literature review and expert opinion. Nasal obstruction is a frequent problem managed by the facial plastic surgeon. It can occur at multiple sites, but commonly problematic regions are the nasal valves. A comprehensive nasal exam can elucidate the source of obstruction and validated obstruction measurements, such as the Nasal Obstruction Symptom Evaluation Instrument or the Standardized Cosmesis and Health Nasal Outcomes Survey for Functional and Cosmetic Rhinoplasty, can classify severity. Cartilage grafting and open septorhinoplasty techniques are invaluable for correcting nasal valve obstruction; however, the traditional methods may be neither possible nor optimal for all patients. Minimally invasive treatment modalities have emerged to offer an alternative to classical treatment algorithms. Minimally invasive techniques aimed at improving the nasal valve function include nasal dilators, suture suspension, lateral nasal wall bioresorbable implants, and cartilaginous radio frequency remodeling. Benefits of these methods include clinic-based intervention, avoidance of general anesthesia, use in previously operated noses, and minimally invasive nature. Publications with ranging levels of evidence support the efficacy of these interventions when patients with isolated nasal valve obstruction are examined. Limitations in the data, such as study power, source of funding, duration of follow-up, and longevity of response, warrant the need for further investigation; however, the efficacy of these techniques justifies implementation in proper patient populations into current practice. Minimally invasive nasal valve correction is a valuable tool in the armamentarium of the facial plastic surgeon. It cannot and should not replace traditional septorhinoplasty; however, the techniques are a valuable consideration for the appropriate patient population.

Common Pitfalls of Head and Neck Research Using Cancer Registries.

OBJECTIVE: To highlight common pitfalls observed in scientific research derived from national cancer registries, predominantly the Survival, Epidemiology, and End Results Program and the National Cancer Database. DATA SOURCES: Literature review and expert opinion. REVIEW METHODS: This state-of-the-art review consolidates the literature with editorial experiences describing how and why statistically flawed studies are usually rejected for publication, highlighting common errors in submitted articles employing national cancer registries. CONCLUSIONS: Pitfalls were identified in 2 major areas-design and data analysis. Design pitfalls included unbalanced cohorts, uncontrolled covariates, and flawed oncologic variables. Analytical pitfalls included incorrect application of univariate analyses, inclusion of inaccurate data, and inclusion of stage IVc disease in curative survival analysis. Additional limitations of database studies were identified, including absence of patient-related outcomes, hypothesis-generating vs practice-changing implications, and inability to differentiate between overall survival and disease-specific survival. IMPLICATIONS FOR PRACTICE: Methodological strategies are suggested to ensure careful analytical design and appropriate interpretation. Although national cancer registries provide a wealth of data, researchers must remain vigilant when designing studies and analyzing these data sets. Inherent design flaws raise considerable problems with interpretation; however, when analyzed judiciously, registries can lead to a better understanding of cancer outcomes.