Faculty Bibliography

The professional journal promotes and sustains academic departments through several mechanisms that include peer review, editing, timing, and solicitation of works. The ways in which peer review strengthens and augments academic pediatric otolaryngology are through: the creation of new knowledge; knowledge transfer-teaching; the establishment and development of quality medical/surgical standards; scholarship; and the fostering of the development of the next generation of academic physicians is detailed.

The importance of the care given by the pediatric otolaryngologist to the individual child encompasses the traditional purposes of medicine. This field has its special focus on interventions that preserve, restore and/or otherwise improve hearing, speech, voice, gustation, olfaction, deglutition, respiration, appearances, etc. The value-added dimension of pediatric otolaryngology is of essential importance because it enhances communication-language--through the vehicles of hearing, voice, and speech. This critical role is manifest in two ways. The first relates to the economic bases of society. Comparison of the consequences of communications disorders in three different countries ranging, currently, from one very highly dependent upon communication skills (The Netherlands), to one highly dependent upon communication skills (the United States), to a developing nation less dependent upon communication skills (the Philippines) is presented. All three nations are adversely affected economically and socially by communication disorders. It is estimated that the United States loses between 2.5 and 3% of its gross domestic product from the economic sequel of communication disorders. It also appears that communication disorders contribute to crime, since the prevalence of communication disorders is many times greater in populations of juvenile delinquents than in the general population. Communication disorders may act synergistically with diminished economic and social resources and other factors in the causes of violent behavior and crime.

Paragangliomas most commonly occur in the carotid body, jugulotympanic area, and vagus nerve but have also been reported in other areas of the head and neck. These tumors are highly vascular and characteristically have early blood vessel and neural involvement, making their treatment particularly challenging. Surgery has traditionally been the preferred method of treatment, especially in light of recent advances in technique. However, compared to radiation therapy, it can result in a higher incidence of cranial nerve dysfunction. Radiation therapy has the advantage of avoiding the increased morbidity of surgery while offering an equal possibility of cure. Part 2 of this article discusses radiation therapy as primary treatment of patients who are ineligible for surgery and the elderly and infirm. Results with radiotherapy are comparable to those achieved with surgery. The efficacy of salvage therapy with either surgery or radiation is discussed, and a treatment algorithm for these tumors is proposed.

Paragangliomas most commonly occur in the carotid body, jugulotympanic area, and vagus nerve but have also been reported in other areas of the head and neck. These tumors are highly vascular and characteristically have early blood vessel and neural involvement, making their treatment particularly challenging. Surgery has traditionally been the preferred method of treatment, especially in light of recent advances in technique. However, compared to radiation therapy, it can result in a higher incidence of cranial nerve dysfunction. Radiation therapy has the advantage of avoiding the increased morbidity of surgery while offering an equal possibility of cure. Part 1 of this two-part article focuses on techniques for diagnosing paraganglioma and the indications for and use of surgery as primary treatment. The complications commonly associated with surgery are reviewed, and strategies for rehabilitation of affected patients are presented.

METHODS: A review of the literature and the author's pediatric otolaryngology experience regarding the clinical presentation and contemporary management of airway hemangiomas, with an emphasis on subglottic hemangiomas. CONCLUSION: A myriad of medical and surgical treatment options exist for children with airway hemangiomas. Careful application of these technologies allows for satisfying outcomes in most cases.

BACKGROUND AND PURPOSE: Skull base osteomyelitis typically arises as a complication of ear infection in older diabetic patients, involves the temporal bone, and has Pseudomonas aeruginosa as the usual pathogen. Atypical skull base osteomyelitis arising from the sphenoid or occipital bones without associated external otitis occurs much less frequently and initially may have headache as the only symptom. The purpose of this study was to review the clinical and MR imaging features of central skull base osteomyelitis. METHODS: We retrospectively reviewed MR images obtained in six patients with central skull base osteomyelitis. No patient had predisposing external otitis or osteomyelitis of the temporal bone. RESULTS: All of our patients presented with headache, no external ear pain, and cranial nerve deficits. Five of six patients had a predisposition to infection, and the erythrocyte sedimentation rate was elevated in the five patients in whom it was checked. In each case, the diagnosis was delayed until MR imaging demonstrated central skull base abnormality, and the diagnosis was then confirmed with tissue sampling. The most consistent imaging findings were clival bone marrow T1 hypointensity and preclival soft tissue infiltration. Five of six patients were cured with no recurrence of skull base infection over a 2-4-year follow-up period. CONCLUSION: In the setting of headache, cranial neuropathy, elevated erythrocyte sedimentation rate, and abnormal clival imaging findings, central skull base osteomyelitis should be considered as the likely diagnosis. Early tissue sampling and appropriate treatment may prevent or limit further complications such as intracranial extension, empyema, or death.

The authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.

OBJECTIVES/HYPOTHESIS: Vascular malformations involving the mandible and maxilla are uncommon, and no uniform treatment of these lesions has been defined. The purpose of the study was to evaluate the effectiveness of treating vascular malformations with a multidisciplinary approach and emphasis on endovascular therapy. STUDY DESIGN: Retrospective chart review of patients. METHODS: The treatment of 31 patients (13 male and 18 female patients) with mandibular and/or maxillary vascular malformations presenting between 1979 to 2001 was reviewed. RESULTS: Thirteen patients (42%) presented with mandibular vascular malformations, and an equal number of patients had maxillary vascular malformations. Five patients had involvement of both the mandible and maxilla. Twenty-six patients (84%) had adjacent soft tissue extension, whereas five patients had a vascular malformation isolated either to the mandible (four cases) or maxilla (one case). Twenty-six cases consisted of arterial vascular malformations, and five patients had venous and capillary types. Twenty-five patients (81%) were treated with embolization only, whereas six patients (19%) underwent combined embolization and surgical resection. "Cure" was defined as the complete eradication of disease or permanent resolution of symptoms with complete devascularization by embolization. The cure rates were 70% for mandibular malformations and 46% for maxillary lesions. None of the combined maxillary/mandibular lesions were cured, but all achieved improvement or stabilization of symptoms. The follow-up range was 1 to 22 years with an average follow-up of 6.7 years. CONCLUSION: The location and extent of vascular malformations dictate the treatment and resulting success. Endovascular therapy alone can effectively "cure" most mandibular and maxillary vascular malformations with limited soft tissue involvement. Extensive vascular malformations can be stabilized with control of symptoms, but eradication of the vascular malformation is unlikely even with combined surgery and embolization.

Genomic aberrations in a series of paired biopsy samples from patients who presented initially with follicle center lymphoma (FCL) and subsequently transformed to diffuse large B-cell lymphoma (DLBCL) were measured by array comparative genomic hybridization (CGH). The consequences of these aberrations on gene expression were determined by comparison with expression analysis on these specimens using cDNA microarrays. A heterogeneous pattern of acquired genomic abnormalities was observed upon transformation, some of which were recurrent in small subsets of patients. Some of the genomic aberration acquired upon transformation, such as gain/amplification of 1q21-q24, 2p16 (REL/BCL11A gene loci), 3q27-q29 (including the BCL6 locus), 7q11.2-q22.1, 12pter-q12, 18q21 (including the BCL2 locus) and Xq, and deletion of 6q22-q24, 13q14-q21 and 17p13 (P53 locus) have been previously implicated in the FCL/DLBCL pathogenesis. In addition, novel genomic imbalances not previously reported in association with FCL transformation, such as overrepresentation of 4p12-pter, 5p12-p15, 6p12.3-p21, 9p23, 9q13-q31, 16q, 17q21, and loss of 1p36.3, 4q21-q23, 5q21-q23, 9q31-qter, 11q24-q25, and 15q23, were identified. We observed a differential expression profile of many genes within regions of gain and deletion upon transformation, including novel target genes associated with FCL transformation. However, other genes did not show deregulated expression despite their location within these areas. In summary, the combination of array CGH and expression analysis provides a more comprehensive picture of the transformation of FCL to DLBCL. This process is associated with the acquisition of a variable spectrum of genomic imbalances affecting recurrent chromosomal areas that harbor overexpressed or underexpressed genes targeted upon transformation.