Management of Skull Fractures and Calvarial Defects.

Scalp and calvarial defects can result from a myriad of causes including but not limited to trauma, infection, congenital malformations, neoplasm, and surgical management of tumors or other pathologies. While some small, nondisplaced fractures with minimal overlying skin injury can be managed conservatively, more extensive wounds will need surgical repair and closure. There are many autologous and alloplastic materials to aid in dural and calvarial reconstruction, but no ideal reconstructive method has yet emerged. Different reconstructive materials and methods are associated with different advantages, disadvantages, and complications that reconstructive surgeons should be aware of. Herein, we discuss different methods and materials for the surgical reconstruction of calvarial defects.

External auditory canal defect management and reconstruction.

BACKGROUND: The external auditory canal (EAC) is an area commonly involved by skin cancers. Knowledge of the anatomy of this area and proper evaluation and management of patients with these malignancies is essential. OBJECTIVE: The purpose of this article is to provide the reader with an understanding of the anatomy of the EAC, the options available for the treatment of EAC cancers, and repair of the resulting surgical defects. METHODS AND MATERIALS: A review of the current literature was performed to summarize the current literature on this topic. RESULTS: There are a variety of surgical options available for the treatment of these cancers whose use depends on the location and extent of the tumor. It is important to follow a logical reconstructive algorithm after tumor resection to optimize both functional and cosmetic results.

An evolving paradigm for the workup and management of high-risk cutaneous squamous cell carcinoma.

BACKGROUND: No established standard of care exists for aggressive cutaneous squamous cell carcinoma (CSCC). OBJECTIVE: We sought to establish an aggressive CSCC management protocol by reviewing high-risk CSCC (HCSCC) and very high-risk CSCC (VCSCC) cases at our institution. METHODS: This was a retrospective review of all CSCC cases treated at our institution. RESULTS: A total of 27 patients were identified of 1591 cases treated between 2000 and 2011. Four patients with HCSCC received surgery alone and 1 received surgery and radiation. All remain disease free (median follow-up 5 years). Among patients with VCSCC, 4 received surgery alone: 1 (25%) showing a complete response and 3 (75%) showing disease progression. Eleven received surgery and radiation: 4 (36.4%) with complete response (median follow-up 3 years) and 7 (63.6%) with disease progression (median time to recurrence 6 months). Six received surgery and cetuximab: 3 (50%) had a complete response (median follow-up 3 years), 2 (33%) had disease progression, and 1 (14%) could not be assessed because of inability to tolerate infusions. One patient received surgery, cetuximab, and radiation, and remains disease-free after 4 years. LIMITATIONS: Lack of randomization, blinding, a true control arm, or standardization of treatment protocols are limitations. CONCLUSIONS: Patients with very HCSCC may have improved outcomes with surgery and adjuvant cetuximab.

Bringing Your Idea to the Market: A Primer for Plastic Surgeons.

SUMMARY: The progress of biotechnology, medical instruments, and applied sciences contributes to a rapidly expanding space for the advancement of the medical field. Surgeons experience first-hand the limitations of current medical devices and thus have unique insight into problems that could be solved with new products. The process of turning an idea into a product capable of success in the marketplace, however, is often unfamiliar to surgeons. The authors seek to illuminate this process and provide an ordered list of tasks that can make bringing ideas to market more achievable for surgeons. The first step in this process is the generation and protection of a new idea. Next, the process of making an idea into a product is outlined. This phase involves team assembly, business planning, and product development. Market research and valuation are key to understanding how a product can be applied in the market, and meticulous research during this phase allows for informed decision-making that will help secure funding down the road. Finally, various options for financing are discussed and compared to help surgeon-entrepreneurs find an option that best fits their project, and steps to maximize leverage are described. The development of new products can be a complicated process for surgeons. Organized into four phases, with ordered instructional steps to advance through each phase, the process of bringing an idea to the market is clarified. Facilitating this process will possibly contribute to the continual improvement of medical and surgical abilities through the introduction of new devices and technologies.

Complications in Skull Base Surgery and Subsequent Repair.

Over the past several decades, endoscopic sinus surgery has revolutionized the approach to skull base surgery. Open skull base approaches remain a viable option for advanced skull base tumors. Complications have gone down with increased reliability of vascularized tissue transfer. In this article, the authors explore the various complications that can present following skull base surgery and review the approaches for repair when such issues are encountered.

Radiation Necrosis of the Lateral Skull Base and Temporal Bone.

Radiation therapy plays a critical role in the treatment of malignancies involving the head and neck. Although the therapeutic effects of ionizing radiation are achieved, normal tissues are also susceptible to injury and significant long-term sequelae. Osteoradionecrosis of the temporal bone (ORNTB) is among the many complications that can arise after therapy. ORNTB is a debilitating and potentially lethal condition that continues to challenge patients and treating physicians. Herein, we review the pathophysiology, presentation, work-up, and management of ORNTB.

Basal cell carcinoma with intracranial invasion.

The risk of invasion and destruction of cranium, underlying dura, and cranial nerves by basal cell carcinoma (BCC) is extremely low, with an estimated incidence of 0.03%. Intracranial BCC invasion by direct extension is rare, and orbital spread from a nasal lesion has not been reported in the literature. We describe a case of intracranial invasion of a multiply recurrent nasal BCC, which caused progressive bilateral blindness from optic nerve compression, with spinal canal involvement causing subsequent lower extremity weakness and paralysis. This case underscores the importance of early and appropriate treatment of high risk BCC, and aggressive treatment of recurrent lesions as early as possible.

Novel mutant-enriched sequencing identified high frequency of PIK3CA mutations in pharyngeal cancer.

We previously reported 4 PIK3CA mutations in 38 head and neck cancer samples, 3 of which were identified in 6 pharyngeal cancer samples. To determine the mutation frequency of PIK3CA in pharyngeal cancer, we studied 24 additional cases of pharyngeal squamous cell carcinoma in this study. Using both direct genomic DNA sequencing and novel mutant-enriched sequencing methods developed specifically for the 3 hot-spot mutations (H1047R, E545K and E452K) of PIK3CA, we detected 5 mutations of PIK3CA in the 24 pharyngeal cancers (20.8%). Three of the 5 mutations had been missed by the conventional sequencing method and were subsequently detected by novel mutant-enriched sequencing methods. We showed that the mutant-enriched sequencing method for the H1047R hot-spot mutation can identify the mutation in a mixed population of mutant and wild-type DNA sequences at 1:360 ratios. These novel mutant-enriched sequencing methods allow the detection of the PIK3CA hot-spot mutations in clinical specimens which often contain limited tumor tissues (i.e., biopsy specimens). The data further support that oncogenic PIK3CA may play a critical role in pharyngeal carcinogenesis, and the mutant-enriched sequencing methods for PIK3CA are sensitive and reliable ways to detect PIK3CA mutations in clinical samples. Because PIK3CA and its pathway are potential targets for chemotherapy and radiation therapy, and frequent somatic mutation of PIK3CA has been identified in many human cancer types (e.g., breast cancer, colorectal cancer), the abilities to detect PIK3CA mutations with enhanced sensitivities have great potential impacts on target therapies for many cancer types.

PIK3CA mutations in head and neck squamous cell carcinoma.

PURPOSE: Recent studies have reported high frequencies of somatic mutations in the phosphoinositide-3-kinase catalytic alpha (PIK3CA) gene in several human solid tumors. Although gene amplifications of PIK3CA have been reported in head and neck squamous cell carcinoma (HNSCC), small mutation of the gene has not been evaluated in HNSCC previously. In this study, we examined the mutation frequency of PIK3CA in HNSCC. EXPERIMENTAL DESIGN: More than 75% of the somatic mutations of PIK3CA are clustered in the helical (exon 9) and kinase domains (exon 20). To investigate the possible role of PIK3CA in HNSCC tumorigenesis, exons 1, 4, 5, 6, 7, 9, and 20 of the gene were analyzed by direct genomic DNA sequencing in 38 HNSCC specimens. RESULTS: We identified four missense mutations in the seven exons of PIK3CA from 38 HNSCC specimens (11%). Three of the four mutations (i.e., H1047R, E542K, and E545K) have been previously reported as hotspot mutations. The remaining novel mutation, Y343C, is identified at exon 4 nucleotide 1028 A --> G. Three of the four mutations were shown to be somatic, whereas the fourth mutation (H1047R) was identified in a cell line. Interestingly, three of the four mutations identified were in pharyngeal cancer samples. CONCLUSIONS: These data provide evidence that oncogenic properties of PIK3CA contribute to the carcinogenesis of human head and neck cancers, especially in pharyngeal cancer. A specific kinase inhibitor to PIK3CA may potentially be an effective therapeutic reagent against HNSCC or pharyngeal cancer in particular.

Clinical predictors for hearing loss in children with bacterial meningitis.

OBJECTIVES: To identify clinical risk factors that predict a higher incidence of hearing loss in children with bacterial meningitis, to determine the overall incidence of hearing loss in a large group of children proven by culture findings to have bacterial meningitis, and to compare clinical characteristics among patients with Streptococcus pneumoniae meningitis and Neisseria meningitidis meningitis. DESIGN: Retrospective review SETTING: Tertiary pediatric hospital. PATIENTS: A total of 171 children identified with bacterial meningitis who met inclusion criteria over a consecutive 10-year period. MAIN OUTCOME MEASURE: Presence of sensorineural hearing loss. RESULTS: Of 134 patients who underwent audiologic testing during their initial hospitalization, 41 (30.6%) were found to have at least a unilateral mild sensorineural hearing loss. The incidence of hearing loss was greater in patients with S pneumoniae meningitis than in patients with N meningitidis meningitis (35.9% and 23.9%, respectively). Length of hospitalization, development of seizures, elevated cerebrospinal fluid protein, and decreased cerebrospinal fluid glucose were significant predictors for hearing loss in children with bacterial meningitis. These factors were not found to be as strong a predictor for hearing loss in patients with N meningitidis meningitis. Stability of hearing was demonstrated with limited follow-up audiometry. CONCLUSIONS: Sensorineural hearing loss is a common sequela in children with bacterial meningitis. Identification of hearing loss in children with bacterial meningitis and early rehabilitation will lessen the long-term educational and social difficulties these children may experience.

Endoscopically guided placement of prefabricated cochlear implant electrodes in a common cavity malformation.

OBJECTIVE: To devise a safe and effective method of optimal customized electrode placement in the common cavity of children with cochleovestibular malformations. METHODS: Specialized electrodes were manufactured on the basis of three-dimensional data obtained from the high resolution computed tomography (HRCT) scans of the temporal bones of these two children. Electrode positioning was achieved with direct endoscopic view of the cavity utilizing a three-hole common cavity technique. RESULTS: Optimal electrode positioning in apposition to the medial neuroepithelium in the common cavity was verified visually intraoperatively. Postoperatively, minimal stable electrical current levels were found to be required. CONCLUSIONS: Custom-designed electrodes have the potential to offer improved results in children with common cavity malformations. Intraoperative direct positioning may further improve these results.

Single stage near total resection of massive pediatric head and neck plexiform neurofibromas.

OBJECTIVE: Plexiform neurofibromas of the head and neck in neurofibromatosis type 1 (NF 1) carry a significant morbidity with substantial loss of function as well as significant cosmetic problems. We describe our experience with early aggressive surgical intervention in such patients in order to avert these problems. METHODS: Retrospective review of four consecutive pediatric patients with massive head and neck plexiform neurofibromas who underwent single stage near total or sub-total tumor resections. RESULTS: All four patients were referred for obstructive airway symptoms. Each patient experienced complete relief of symptoms and return of function without additional neurological deficits. There were two minor complications and no major complications of surgical resection. There have been no recurrences to date, with follow-up ranging from 15 months to 5 years. CONCLUSIONS: Early surgical intervention of NF 1 patients with plexiform neurofibromas of the head and neck with a goal of near total resection avoids the loss of function associated with these tumors, such as tracheostomy dependence, swallowing difficulty, and speech problems, and prevents the inexorable progression of substantial cosmetic deformity. Successful management of these complex lesions requires detailed preoperative planning, advanced surgical techniques, and vigilant postoperative care.

Central nervous system findings by magnetic resonance in children with profound sensorineural hearing loss.

INTRODUCTION: High-resolution magnetic resonance studies are an important tool in the investigation of the etiology of childhood sensorineural hearing loss. An added benefit with magnetic resonance is the ability to screen the central nervous system for findings which may adversely affect the neurodevelopmental outcome of these children. OBJECTIVE: To determine the proportion of cases and significance of associated intracranial abnormalities as detected by central nervous system high-resolution magnetic resonance imaging in children with profound sensorineural hearing loss. METHODS: Retrospective chart review of children undergoing evaluation for cochlear implantation in a tertiary care academic children's hospital with high-resolution magnetic resonance of the temporal bone and brain during a 21 month period. Magnetic resonance studies were interpreted by an experienced senior neuroradiologist blinded to the identity and clinical data of the patients. RESULTS: Forty patients were identified. All had the same magnetic resonance study consisting of a 3D high-resolution sequence through the temporal bone as well as a T1 sagittal and T2 axial screening sequence of the brain. Eight patients (20%) showed significant brain abnormalities by magnetic resonance imaging ranging from myelination delays to migrational anomalies. Temporal bone abnormalities were not seen. Three patients with Connexin-26 mutations had no associated brain abnormalities by magnetic resonance. CONCLUSIONS: A significant proportion of our patients being investigated by magnetic resonance imaging for profound sensorineural hearing loss show migrational abnormalities of the central nervous system, suggesting a central origin to their hearing loss. Some of these findings may result in neurodevelopmental delay and hence, negatively impact the success of cochlear implantation. We propose that magnetic resonance imaging of the temporal bone as part of the evaluation protocol for cochlear implantation in children should include central nervous system screening.

Do corticosteroids prevent hearing loss in pediatric bacterial meningitis? An analysis of the evidence.

We reviewed the MEDLINE database of articles published from January 1966 through December 2001 in search of data on the ability of the corticosteroid dexamethasone to protect against sensorineural hearing loss in children with meningitis. We found 1,034 articles that matched our keyword entries, and after various exclusions, we winnowed this number down to 16 articles that contained adequate data regarding audiometric evaluation and follow-up. The 16 articles included reports of 11 randomized controlled trials (only 10 are considered in this analysis), two meta-analyses, two retrospective case series, and two consensus statements. Of the 10 clinical trials (all of which contained level I evidence), four showed that dexamethasone had a protective effect and six showed that it did not. The authors of the two meta-analyses (both level I) concluded that there was a protective effect, and the authors of the two retrospective case series (both level IV) concluded that there was not. Both consensus statements (both level V) recommended the use of dexamethasone only in Haemophilus influenzae meningitis. We conclude that well-designed studies with level l evidence have shown that the benefit of dexamethasone in preventing hearing loss in children with meningitis remains unclear Significant variables in treatment response include the specific pathogen, the type of antibiotic, and the timing of dexamethasone administration.

Steady-state response audiometry in a group of patients with steeply sloping sensorineural hearing loss.

OBJECTIVES: The purpose of this study was to examine the predictive value of auditory steady-state response (ASSR) evoked potential thresholds and predicted behavioral thresholds in a group of children with steeply sloping sensorineural hearing loss (HL). STUDY DESIGN: Case series. METHODS: Twenty-nine children with sloping sensorineural HL underwent behavioral audiometric evaluation, impedance testing, distortion product otoacoustic emissions, and steady-state response testing. A t test was performed to compare the means of ASSR predicted behavioral thresholds and behavioral responses. Pearson correlation coefficients were calculated at each tested frequency, 500 Hz, 1,000 Hz, 2,000 Hz, and 4,000 Hz, using the same data. RESULTS: Bracketed thresholds were obtained at 500 Hz, 1,000 Hz, 2,000 Hz, and 4,000 Hz. Nineteen ears were used in this evaluation. A comparison of threshold difference as a function of bracketing revealed that the means were statistically different (P < .05). The mean threshold differences were calculated, and Pearson r values were determined between the behavioral thresholds and the predicted thresholds using the Rance 95 algorithm. The results revealed no difference of means at 500 Hz between predicted and measured behavioral thresholds. Linear regression analysis revealed strong correlation at 500 Hz, 1,000 Hz, and 2,000 Hz. CONCLUSIONS: The GSI Audera appears to predict the configuration of HL in children with steeply sloping sensorineural HLs and over-predicts the severity of the loss by 15 to 20 dB above 500 Hz at each test frequency (1,000, 2,000, and 4,000 Hz). Correlation coefficients display a strong correlation at 500 Hz, 1,000 Hz, and 2,000 Hz.

Diagnosis and management of lateral sinus thrombosis.

OBJECTIVES: To define the contemporary management of septic otogenic lateral sinus thrombosis. STUDY DESIGN: Retrospective case series identified through database search of otologic surgical cases managed by a single surgeon in four teaching hospitals over a 6-year period. METHODS: Twelve patients presenting with lateral sinus thrombosis of otogenic cause were the subjects of this study. Patients with incomplete medical records or unknown outcomes were excluded. RESULTS: Lateral sinus thrombosis was the result of chronic otitis media in 50% of cases, with five of these patients having cholesteatoma. In addition, there were seven associated intracranial complications in six patients in this series. All patients underwent medical and surgical treatment. Aggressive and early surgical treatment was tailored to the degree of preoperative and intraoperative findings. The sigmoid sinus was resected in six of the patients with a variable degree of inferior margin proportional to the extent of thrombosis. Thrombectomy alone under vascular control with reestablishment of flow was used to remove the septic thrombus in the other six patients. There were no complications in these patients. CONCLUSION: Early and aggressive surgical intervention of this otogenic complication can potentially minimize mortality, hospital stay, and length of medical treatment.

Auditory steady-state response audiometry in profound SNHL: the impact of abnormal middle ear function.

Auditory steady-state response (ASSR) audiometry is a commercially available tool that is used to predict behavioral auditory threshold levels. Its particular value stems from the technology's ability to measure frequency-specific responses in the background electroencephalogram to auditory stimuli presented across a broad range of frequencies and sound pressure levels. It is clearly of benefit when used to assess threshold levels in infants and children with severe-to-profound hearing impairment (i.e., cochlear implant candidates). Although numerous authors have provided evidence of the usefulness of ASSR testing, their reports have concerned patients whose middle ear impedance measures were normal. We report the cases of 2 patients who, following improvement of abnormal middle ear impedance values, experienced a marked improvement in measurable thresholds by ASSR testing.

Rare Presentation of Giant Cell Tumor in the Internal Auditory Canal: Case Report and Review of the Literature.

Giant cell tumor (GCT) is a benign but locally aggressive bone tumor that usually involves the end of long bones. It is a relatively common neoplasm in patients, constituting 5 to 10% of all benign bone tumors. Approximately 2% of GCTs occur in the craniofacial skeleton with a predilection for the ethmoid, sphenoid, and temporal bones. The skull base location is unique and not commonly described. Hearing loss, headache, tinnitus, and subcutaneous masses are the most commonly reported symptoms in GCTs of the skull base. In this case report we present the first description of a GCT within the internal auditory canal causing cranial neuropathy and review the recent pertinent literature.

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

OBJECTIVES: Aetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy. METHODS: Sanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient's clinical presentation and suspected diagnosis. Observed DNA sequence variations were assessed for pathogenicity by review of the scientific literature, and mutation and polymorphism databases, through the use of in silico tools including sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), and according to the recommendations of the American College of Medical Genetics and Genomics for the interpretation of DNA sequence variations. Novel DNA sequence variations were sought in controls. RESULTS: DNA sequencing of the coding and near-coding regions of genes relevant to each patient's clinical presentation revealed 37 sequence variations of known or uncertain pathogenicity in 9 genes from 25 patients. 14 novel sequence variations were discovered. Assessment of phenotypes revealed notable findings in 9 patients. CONCLUSIONS: DNA sequencing in patients whose clinical presentation suggested a genetic syndrome or auditory neuropathy provided opportunities for aetiological assessment and more precise genetic counselling of patients and families. The failure to identify a genetic aetiology in many patients in this study highlights the extreme heterogeneity of genetic hearing loss, the incompleteness of current knowledge of aetiologies of hearing loss, and the limitations of conventional DNA sequencing strategies that evaluate only coding and near-coding segments of genes.

Neuropsychological testing in the screening for cochlear implant candidacy.

OBJECTIVE: To demonstrate the utility of neuropsychological assessment in the screening process for pediatric cochlear implant candidacy. STUDY DESIGN: Prospective and ongoing evaluation of children with profound bilateral hearing loss using age-specific neuropsychological test batteries. METHODS: Eighteen children who met audiological criteria for cochlear implantation were evaluated by two age-specific neuropsychological tests. The Vineland Adaptive Behavior Scales survey assesses several domains of behavioral functions (communication, daily living skills, socialization, and gross motor skills). The Mullen Scales of Early Learning assesses the child's visual perception, speech and language, and motor abilities. The Leiter International Performance Scale-Revised assesses intellectual ability. RESULTS: All patients underwent the Vineland Adaptive Behavior Scales survey. Overall scores were lower than normative means with a mean composite score in the 7th percentile. In addition, there was a strong inverse correlation between score and age of testing. Ten children were assessed using the Mullen Scales of Early Learning, and, again, there was a strong inverse correlation between score and age of testing. Intellectual ability was assessed in seven children using the Leiter International Performance Scale-Revised and was found to be lower than normative means with a mean score in the 13th percentile. CONCLUSIONS: Neuropsychological testing of profoundly deaf children provides a detailed and accurate assessment of the child's cognitive, behavioral, and motor functions. The profoundly deaf child does not develop at the same rate as normal children in cognitive and behavioral domains. Neuropsychological testing is a useful tool for screening for cochlear implant candidacy and has the potential to track changes before and after implantation.