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1.
Curr Otorhinolaryngol Rep ; 11(3): 201-214, 2023 Sep.
Article in English | MEDLINE | ID: mdl-38073717

ABSTRACT

Purpose of review: To summarize the current literature on allyship, providing a historical perspective, concept analysis, and practical steps to advance equity, diversity, and inclusion. This review also provides evidence-based tools to foster allyship and identifies potential pitfalls. Recent findings: Allies in healthcare advocate for inclusive and equitable practices that benefit patients, coworkers, and learners. Allyship requires working in solidarity with individuals from underrepresented or historically marginalized groups to promote a sense of belonging and opportunity. New technologies present possibilities and perils in paving the pathway to diversity. Summary: Unlocking the power of allyship requires that allies confront unconscious biases, engage in self-reflection, and act as effective partners. Using an allyship toolbox, allies can foster psychological safety in personal and professional spaces while avoiding missteps. Allyship incorporates goals, metrics, and transparent data reporting to promote accountability and to sustain improvements. Implementing these allyship strategies in solidarity holds promise for increasing diversity and inclusion in the specialty.

2.
Am J Otolaryngol ; 44(1): 103673, 2023.
Article in English | MEDLINE | ID: mdl-36302328

ABSTRACT

The pandemic era has wrought disruptive changes across all aspects of academic medicine, transforming clinical care systems, research enterprises, and educational practices. Among these sweeping changes, some of the most significant for Otolaryngology-Head & Neck Surgery (OHNS) relate to innovative use of virtual communication. The virtual landscape has not only redefined the delivery of patient care but also expanded educational interactions across the career continuum. As the architecture of relationships has been reimagined, the traditional Halstedian teaching paradigm has evolved, now integrating in-person, virtual, and hybrid learning. Once formidable barriers to distance learning have diminished, giving way to social networks that support mentorship, coaching, and sponsorship. Creative use of technology supports collaboration, feedback, spaced learning, scaffolding, and interleaving. These advances have immediate significance for OHNS, a highly collaborative specialty that leads in technological innovation and aspires to improve diversity. Whereas traditional efforts to grow the ranks of underrepresented in medicine (URiM) individuals in OHNS yielded only incremental progress, the virtual landscape is unveiling new strategies for reengineering narrow or leaky pipelines. Strategies that can help attract URiM applicants include inclusive departmental web presence, interactive online clinical experiences, virtual interviews, and remote research opportunities. As students, surgeons, and scientists collectively embrace technology, accelerated progress toward diversity, equity, and inclusion (DEI) becomes possible. Maximizing these opportunities requires aligning national and institutional imperatives for diversity with departmental priorities and mission. Finally, intentional outreach and holistic assessment support growth of structured virtual communities that foster equitable access for those who need it most.


Subject(s)
Internship and Residency , Otolaryngology , Physicians , Humans , Otolaryngology/education , Mentors , Learning
3.
Otolaryngol Head Neck Surg ; 166(6): 1174-1181, 2022 06.
Article in English | MEDLINE | ID: mdl-35380882

ABSTRACT

Academic medical centers striving to implement diversity, equity, and inclusion (DEI) and antiracism initiatives often ask faculty to volunteer substantial time to committee work, recruitment, mentoring, community, and administrative responsibilities. These requests are not in lieu of current workload and seldom count toward scholarship; the service may go unrecognized, unrewarded, and uncompensated. URiM faculty (underrepresented in medicine) providing such service thus pay a minority tax when precious time is syphoned away from career-advancing activities and personal growth. The resulting strain on available resources has social, psychological, and monetary ramifications that can undermine the long-term objectives of DEI initiatives. We examine the facets of the minority tax, consider the current state of diversity, and present a roadmap to redistribute, reform, and reduce URiM taxation through shared engagement in DEI initiatives. Key interventions include ascribing value to DEI efforts, implementing evidence-based policies to reduce bias, and promoting mentorship, sponsorship, and allyship.


Subject(s)
Academic Medical Centers , Minority Groups , Humans , Mentors
4.
Laryngoscope ; 132(12): 2335-2343, 2022 12.
Article in English | MEDLINE | ID: mdl-35244230

ABSTRACT

OBJECTIVE: Otolaryngology-Head and Neck Surgery (OHNS) has historically been one of the least diverse surgical subspecialties. The objective of this study was to better understand perceptions of OHNS from underrepresented students in medicine (URiM) and identify factors affecting URiM application to the specialty. STUDY DESIGN: Survey via electronic questionnaire. METHODS: An anonymous, 22-question electronic survey was administered nationally to URiM medical students (N = 388) regarding factors that play a role in developing an interest in applying to OHNS. Responses to questions were compared between URiMs applying to OHNS and those applying to other fields. RESULTS: Thirty-six percent of respondents identified as African American and 26% as Latino. Students completed the survey in all years of medical school. Research opportunities (H(2) = 18.58, P < .001) and having a race-concordant role model were the most important factors for those pursing OHNS residency. Personality fit and interactions with OHNS faculty had the greatest influence on their decision to pursue OHNS residency. Board scores (e.g., USMLE Step 1/2CK Scores), competitiveness, lifestyle during residency, the influence of application costs, and racial/ethnic and gender distributions did not reach statistical significance or were noninfluential. CONCLUSION: URiMs applying to OHNS value race-concordant mentorship, are involved in research, and have meaningful relationships with their respective OHNS department. We found that establishing meaningful connections with URiM mentors significantly impacts URiM students considering OHNS. While this cohort was not influenced by overemphasis of board scores within the OHNS match process, the COVID-19 pandemic negatively impacted this aspect of their application, along with away rotations. LEVEL OF EVIDENCE: NA Laryngoscope, 132:2335-2343, 2022.


Subject(s)
COVID-19 , Internship and Residency , Otolaryngology , Students, Medical , Humans , Pandemics , COVID-19/epidemiology , Otolaryngology/education
5.
Laryngoscope ; 130(10): 2336-2342, 2020 10.
Article in English | MEDLINE | ID: mdl-31816109

ABSTRACT

OBJECTIVES: 1) Identify factors that influence African American physicians to choose a career in otolaryngology; 2) determine the predominant practice setting for African American otolaryngologists who can be role models; and 3) determine if the presence of an African American otolaryngologist in academic setting influences career choice. METHODS: Survey methodology included a 15-item survey to determine trends in practice and factors that influenced choice of specialty. RESULTS: The results were reviewed for trends influencing career choice and practice location and stratified by age group. Most African American otolaryngologists are in academic practice and have subspecialty fellowship training. Enjoying medical student clerkship was the most frequently cited reason why African Americans chose otolaryngology as a career regardless of age. Early exposure was a driving factor in those 30 to 40 years old. Receiving mentorship was less influential in career choice for all age groups, but there was a positive association between those who were mentored in training and those who mentor faculty. CONCLUSION: The findings suggest the continued need for initiatives to increase African Americans in our specialty. Encouraging early exposure, intentional mentoring of students, and development of African American role models who can be mentors may help increase the number of African American otolaryngologist faculty. This can help our specialty achieve racial parity in a percentage that matches the number of African Americans in the United States workforce. LEVEL OF EVIDENCE: 5 Laryngoscope, 130:2336-2342, 2020.


Subject(s)
Black or African American , Career Choice , Otolaryngologists , Adult , Female , Humans , Male , Surveys and Questionnaires , United States
6.
Int J Pediatr Otorhinolaryngol ; 78(6): 923-5, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24704319

ABSTRACT

OBJECTIVES: There are many studies that evaluate the role of surgery in the treatment of complications of pediatric acute sinusitis; however there are few studies, if any that report the incidence of surgery following recovery from acute complicated sinusitis. The goal of this study was to report the incidence and indications for surgical intervention after recovery from complications of pediatric acute sinusitis. METHODS: We reviewed the records of all children admitted to a tertiary care children's hospital between January 2005 and September 2010 with a diagnosis of sinusitis and an orbital or intracranial complication. Eighty-six patients met inclusion criteria. Charts were reviewed for type of complication, initial treatment (medical or surgical), type of procedure, secondary procedures, age, and comorbidities. Statistical analysis was completed using independent samples student t-tests and Mann-Whitney tests. RESULTS: A total of 86 patients with a mean age of 6.38 years (2 months to 18 years) were identified. Eighty patients had orbital complications while six presented with intracranial complications. Twenty-seven patients (31%) underwent sinus surgery during the acute phase of their illness whereas 59 patients (69%) were treated medically. After hospitalization and recovery for acute complicated sinusitis, surgery was performed on nine patients (mean age 4.86 years) within 1 month to 2 years post hospitalization. Of the nine patients who required secondary surgery following resolution of the initial complicated sinusitis, four patients were following initial surgical intervention and five patients had initially resolved their complication with medical therapy alone. Indications for subsequent surgery included failure of medical therapy for persistent rhinosinusitis (8 patients) and second complication (1 patient). CONCLUSIONS: This study suggests that following resolution of complicated pediatric rhinosinusitis, very few patients may need further surgical intervention. Subsequent intervention is best guided by clinical judgment, symptoms during outpatient clinic visits, and failure of medical therapy.


Subject(s)
Brain Diseases/complications , Orbital Diseases/complications , Sinusitis/complications , Sinusitis/surgery , Acute Disease , Adolescent , Brain Diseases/surgery , Child , Child, Preschool , Female , Hospitalization , Humans , Incidence , Infant , Male , Orbital Diseases/surgery , Retrospective Studies , Treatment Outcome , Wisconsin
7.
Am J Otolaryngol ; 33(4): 493-6, 2012.
Article in English | MEDLINE | ID: mdl-22185684

ABSTRACT

Salivary tissue can be present in the head and neck outside the usual locations of the major and minor salivary glands. This can be in the form of accessory salivary glands, in association with branchial cleft anomalies, or, less commonly, as heterotopic salivary gland tissue (HSGT). Heterotopic salivary gland tissue is defined as salivary tissue outside of the expected locations of major, minor, and accessory salivary glands with absence of clinical or histologic features of branchial cleft anomalies. Here we present the case of a 13-year-old girl who presented with a draining sinus of the lower neck, which was excised and, on histologic analysis, was consistent with HSGT. We include photographs and histologic images. A review of the literature on heterotopic salivary tissue in the neck is then presented including discussion of the presentation, clinical features, important considerations, and recommendations for management.


Subject(s)
Choristoma/surgery , Neck/pathology , Neck/surgery , Salivary Glands/pathology , Adolescent , Choristoma/diagnosis , Female , Humans , Tomography, X-Ray Computed
8.
Arch Otolaryngol Head Neck Surg ; 132(12): 1294-8, 2006 Dec.
Article in English | MEDLINE | ID: mdl-17178938

ABSTRACT

OBJECTIVES: To evaluate the incidence of tympanostomy tube (TT) sequelae, tube otorrhea, and tube obstruction immediately postoperatively in patients receiving TT for otitis media and to compare patients receiving postoperative otic drops with controls. DESIGN: Blinded randomized control trial. SETTING: A tertiary pediatric otolaryngology practice. SUBJECTS: The study population comprised 306 patients undergoing TT placement. INTERVENTIONS: The 306 patients were enrolled into the following 3 groups: (1) those receiving no postoperative otic drop prophylaxis (control group), (2) those receiving ofloxacin otic drops (FLOX group), and (3) those receiving neomycin sulfate-polymyxin B sulfate-hydrocortisone otic drops (COS group). RESULTS: Overall otorrhea rates postoperatively were 14.9% for the control group, 8.1% for the FLOX group, and 5.5% for the COS group. When controlling for disease severity, the rate of otorrhea was significantly higher for the control group than for both the FLOX (P = .04) and COS (P = .01) groups. Nonpatent, plugged, tube rates were added to otorrhea rates for a TT failure analysis postoperatively. The control group demonstrated a significantly greater failure rate (29.9%) than both the FLOX (12.1%) and COS (7.7%) groups. The only differences between the patients in the 2 groups receiving drops were that ofloxacin was more well liked by patients (P = .04) and caused less pain (P = .004). CONCLUSIONS: Nonpatency and otorrhea are the most frequent sequelae immediately following TT placement. Few studies have compared different treatment regimens in a randomized controlled trial. These results demonstrate that otic drops clearly provide benefit postoperatively in preventing TT plugging and otorrhea but primarily in patients who have middle ear fluid at the time of TT placement. In addition, consideration of drop choice should be based on patient tolerance and medication safety profiles.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Cerebrospinal Fluid Otorrhea/prevention & control , Middle Ear Ventilation/adverse effects , Neomycin/administration & dosage , Ofloxacin/administration & dosage , Otitis Media/surgery , Polymyxin B/administration & dosage , Administration, Topical , Anti-Bacterial Agents/therapeutic use , Cerebrospinal Fluid Otorrhea/etiology , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Male , Neomycin/therapeutic use , Ofloxacin/therapeutic use , Polymyxin B/therapeutic use , Postoperative Complications , Retrospective Studies , Time Factors , Treatment Outcome
9.
Otolaryngol Head Neck Surg ; 134(3): 370-3, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16500429

ABSTRACT

OBJECTIVE: To determine if outpatient tailored perioperative management has the same complication rate as that previously published for sickle cell disease (SCD) children who undergo adenotonsillectomy. STUDY DESIGN AND SETTING: Retrospective chart review of SCD children who underwent tonsillectomy with outcome measures of perioperative management and postsurgical complications. RESULTS: Of 41 patients, 61% were monitored for <24 hours with the average length of stay being 2 days (range, 1 to 10). Postoperative complications were noted in 9 (22%) patients, including 8 (20%) with hypoxia, 4 (10%) fever, 3 (8%) acute chest syndrome, and 1 (2.4%) airway fire, which are similar to the published literature. CONCLUSIONS: Current literature supports extensive perioperative management with hospital stays averaging 3 to 5 days. These data demonstrate that the majority of these patients can be managed with <24-hour hospitalization stays with similar complication rates as previously described in the literature. SIGNIFICANCE: This study establishes a new paradigm for perioperative management of SCD children who undergo adenotonsillectomy. EBM RATING: C-4.


Subject(s)
Adenoidectomy , Anemia, Sickle Cell/complications , Perioperative Care , Tonsillectomy , Adenoidectomy/adverse effects , Adolescent , Ambulatory Surgical Procedures , Blood Transfusion/methods , Child , Child, Preschool , Fever/etiology , Humans , Hypoxia/etiology , Length of Stay , Lung Diseases/etiology , Postoperative Complications , Retrospective Studies , Syndrome , Tonsillectomy/adverse effects , Treatment Outcome
10.
Int J Pediatr Otorhinolaryngol ; 69(11): 1503-8, 2005 Nov.
Article in English | MEDLINE | ID: mdl-15927274

ABSTRACT

OBJECTIVE: To describe the occurrence of fungal organisms in the setting of otitis externa and tympanostomy tube otorrhea, review the treatment course, timing of diagnosis, organism identified and time to resolution with fungal infections. DESIGN: Retrospective review. SETTING: Pediatric otolaryngology clinic within a tertiary care hospital. PATIENTS: One hundred and sixty-six patients (ages 16 days to 18 years) with fungal organisms on ear culture. OUTCOME MEASURES: Number of prior therapies, number of office visits, time to resolution and anti-fungal therapy. RESULTS: Ear cultures positive for fungal organisms were found in 166 patients seen between 1 January 1996 and 30 September 2003 from a total of 1242 patients undergoing ear culture. Comparing the 3-year period (1996-1998) prior to the availability of fluoroquinolone ototopical drops to the 3-year period after (1999-2001), there is a statistically significant increase in the incidence of positive fungal culture (p<0.001). Otitis media was diagnosed in 72% of these children, with otitis externa comprising 25%. Approximately 3% carried a diagnosis of both otitis externa and otitis media. Candida albicans was identified in 43% of fungal organism-positive cultures. Candida parapsilosis was found in 24% of and Aspergillus fumigatus in 13%. The remainder of the cultures yielded three other Candida and three other Aspergillus species, each at less than 5%. Time to resolution ranged from 1 week to 9 months, with a median of 3.8 weeks for symptom resolution. Patients were treated with an average of 1.7 oral antibiotics and 1.1 ototopical agent before a culture was taken. CONCLUSIONS: Otorrhea due to fungal organisms occurs in the setting of refractory infection and is often discovered after multiple oral and ototopical antibacterial medications. Due to the extended treatment period required to clear fungal organism, timely diagnosis with culture for bacteria and fungus is required in patients with persistent otorrhea. An increase in incidence of fungal infections of the ear was found in the period after widespread use of ofloxacin began.


Subject(s)
Cerebrospinal Fluid Otorrhea/drug therapy , Mycoses/diagnosis , Otitis Externa/drug therapy , Adolescent , Antifungal Agents/therapeutic use , Aspergillus/isolation & purification , Candida/isolation & purification , Cerebrospinal Fluid Otorrhea/microbiology , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Ear Ventilation/adverse effects , Mycoses/drug therapy , Otitis Externa/microbiology , Otitis Media/drug therapy , Otitis Media/microbiology , Retrospective Studies , Scedosporium/isolation & purification , Trichosporon/isolation & purification
11.
Laryngoscope ; 114(3): 490-4, 2004 Mar.
Article in English | MEDLINE | ID: mdl-15091223

ABSTRACT

OBJECTIVE: Many different tympanostomy tubes have been developed with different sizes, shapes, compositions, and coatings. Despite the frequency of ventilation tube placement, very few large studies have examined the outcomes of patients receiving this procedure. An ideal tube would be easy to insert and would extrude at a predictable interval without complications. This study was performed to assess outcome measures and complication rates of the Armstrong beveled grommet tube. DESIGN: A retrospective case series of patients who had Armstrong beveled grommet tympanostomy tubes placed over a 3 year period by two Children's Hospital of Wisconsin pediatric Otolaryngology staff. MAIN OUTCOME MEASURES: Patient age, diagnosis, operative findings, and time to tube extrusion were reviewed. Otorrhea, perforation, and cholesteatoma rates were also assessed. RESULTS: Five hundred seven consecutive patients who had Armstrong tubes placed were reviewed. One thousand ninety-six Armstrong tubes were placed in these patients. Follow-up to extrusion rates were available for 756 tubes. The mean patient age at tube placement was 33.3 months, and the median age was 23 months. Mean and median times to extrusion were 16.5 and 15.5 months. One hundred sixty episodes of otorrhea were noted in 148 patients. Four patients had histories of cholesteatoma, none of which developed in conjunction with Armstrong tubes. Ten (1.32%) perforations that have not resolved over time were noted after Armstrong tube placement. CONCLUSIONS: Armstrong beveled grommet tympanostomy tubes have complication rates comparable with those reported for Armstrong or other short-acting tubes in smaller series.


Subject(s)
Middle Ear Ventilation/instrumentation , Otitis Media/surgery , Child, Preschool , Female , Humans , Infant , Male , Postoperative Complications , Treatment Outcome
12.
Laryngoscope ; 114(4): 607-11, 2004 Apr.
Article in English | MEDLINE | ID: mdl-15064611

ABSTRACT

OBJECTIVES/HYPOTHESIS: Mutations in the connexin 26 (Cx26) or gap junction beta 2 gene are the leading cause of hereditary nonsyndromic sensorineural hearing loss in Caucasians. The Cx26 coding region of 68 children with nonsyndromic sensorineural hearing loss was sequenced to determine the frequency and type of Cx26 mutations in this population. Screening was also performed for a common connexin 30 (Cx30) or gap junction beta 6 mutation (del [GJB6-D13S1830]). Children also underwent audiological testing to determine whether any correlation exists between Cx26 mutations and severity of hearing loss. STUDY DESIGN: In all, 68 children with nonsyndromic sensorineural hearing loss were screened for Cx26 and Cx30 mutations by polymerase chain reaction and direct sequencing. METHODS: Genomic DNA was amplified by polymerase chain reaction using primers that flank the entire Cx26 coding region. Screening for the 342-kb Cx30 deletion was performed using primers that amplified the breakpoint junction of the deletion. The amplicons were then sequenced in both directions and analyzed for mutations. Audiometric testing, including pure-tone audiometry and auditory evoked brainstem response, was also performed to determine the degree of hearing loss. RESULTS: Twenty-seven of 68 children tested had mutations in Cx26 with 35delG being the most prevalent. Ten additional Cx26 mutations were detected including a novel compound heterozygote. Two children were heterozygous for the Cx30 del (GJB6-D13S1830) mutation. CONCLUSION: Cx26 and Cx30 mutations were present in 41.2% of children tested in the study population. Audiometric data supported previous studies demonstrating a greater degree of hearing loss in subjects who are homozygous for the 35delG mutation.


Subject(s)
Connexins/genetics , Gene Expression/genetics , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/physiopathology , Point Mutation/genetics , Adolescent , Audiometry, Pure-Tone/methods , Child , Child, Preschool , Connexin 26 , Connexin 30 , DNA Mutational Analysis , DNA Primers/genetics , Female , Gene Deletion , Hearing Loss, Sensorineural/epidemiology , Humans , Infant , Male , Mass Screening/methods , Polymerase Chain Reaction , Severity of Illness Index
13.
Laryngoscope ; 113(10): 1639-44, 2003 Oct.
Article in English | MEDLINE | ID: mdl-14520088

ABSTRACT

HYPOTHESIS: Adenotonsillectomy improves general and disease-specific quality of life for properly selected patients suffering for upper airway obstruction secondary to adenotonsillar hypertrophy (UAO) and obstructive sleep apnea (OSA). STUDY DESIGN: Prospective, nonrandomized questionnaire. SPECIFIC AIMS: To evaluate quality of life in patients with UAO and OSA using general quality of life instruments as well as disease-specific instruments. The results will be compared both pre- and postoperatively. METHODS: Fifty-five patients aged 2 to 16 with the clinical diagnosis of UAO or OSA were recruited. The caregivers completed Children's Health Questionnaire Parent Form-28 (CHQPF-28) and OSA-18 quality of life measures both pre- and postoperatively in the long and short term. Statistical analysis was performed using the unpaired Student t test, P value less than.05, and Spearman Rank coefficient. RESULTS: CHQ-PF28 scores were improved in the Physical Summary parameter in long-term follow-up. Psychosocial scores did not improve significantly. OSA-18 scores showed improvement in both the short-and long-term scores. Physical findings and symptoms did not impact scores in any domain. CONCLUSIONS: Quality of life in children with OSA does improve after adenotonsillectomy. Disease-specific clinometric instruments show improvement in domains affected by the disease process. However, instruments used to assess general quality of life may show physical improvement but not psychosocial.


Subject(s)
Adenoidectomy , Quality of Life , Tonsillectomy , Adolescent , Airway Obstruction/etiology , Airway Obstruction/surgery , Child , Child, Preschool , Female , Health Status Indicators , Humans , Infant , Male , Prospective Studies , Sleep Apnea, Obstructive/complications , Surveys and Questionnaires
14.
Arch Otolaryngol Head Neck Surg ; 129(8): 847-53, 2003 Aug.
Article in English | MEDLINE | ID: mdl-12925343

ABSTRACT

BACKGROUND: Office-based evaluation of the lower airway in adults with only topical anesthetics has been well documented. This study was performed to assess the feasibility of performing office-based lower airway endoscopy in a pediatric population. DESIGN: One hundred five consecutive pediatric patients requiring flexible laryngoscopy were studied. All received only a topical anesthetic-decongestant applied nasally. After flexible laryngoscopy, the endoscope was passed below the vocal folds to visualize the subglottis, trachea, and carina. All evaluations were videotaped for later review. SETTING: Academic pediatric otolaryngology practice. MAIN OUTCOME MEASURES: All 105 patients were studied for complications and agreement between office endoscopy and operative endoscopy when necessary (performed in 20 patients). A subset of 24 consecutive patients were studied for ease of performing the lower airway evaluation, rated on a 3-point scale: 1, unable to perform; 2, performed with some difficulty; and 3, performed without difficulty. The ability to view the subglottis, trachea, and carina were also rated on a 3-point scale. RESULTS: There were no complications for any of the procedures. Office endoscopy correlated with operative endoscopy in all cases. In the subset of 24 patients, the mean score for ease of endoscopy was 2.83. The mean scores for visualizing the lower airway were 2.91 for the subglottis, 2.80 for the trachea, and 2.24 for the carina. CONCLUSION: With the use of only topical anesthesia, flexible endoscopy of the lower airway in children can be performed in the office setting and can be used effectively to evaluate abnormalities of the lower airway.


Subject(s)
Laryngeal Diseases/diagnosis , Laryngoscopy , Tracheal Diseases/diagnosis , Chi-Square Distribution , Child , Feasibility Studies , Female , Fiber Optic Technology , Humans , Male , Office Visits , Videotape Recording
15.
Laryngoscope ; 112(7 Pt 1): 1159-62, 2002 Jul.
Article in English | MEDLINE | ID: mdl-12169891

ABSTRACT

OBJECTIVE: Mutations of the gap junction beta 2 (GJB2) gene coding for the protein connexin 26 account for up to 50% of nonsyndromic sensorineural hearing loss (NSHL), with specific mutations associated with distinct ethnic groups. A biracial family with nonsyndromic sensorineural deafness consistent with autosomal recessive inheritance was examined for connexin 26 (Cx26) mutations. STUDY DESIGN: Prospective observational study. METHODS: A family consisting of a Caucasian mother and a Chinese father with two of six children affected by NSHL was examined for Cx26 mutations. Peripheral blood lymphocyte DNA was used to amplify by polymerase chain reaction the Cx26 coding region, followed by mutation detection enhancement gel screening and complete sequencing. Phenotypic characterization using audiometric testing was completed for all children and both parents. RESULTS: The two affected children were found to be compound heterozygotes for Cx26 mutations, displaying a previously unreported combination of 35delG and 235delC. The parents were each unaffected heterozygotes consistent with their ethnic heritage, specifically, the Caucasian mother a 35delG heterozygote and the Chinese father a 235delC heterozygote. CONCLUSIONS: Connexin 26 mutations account for a significant proportion of NSHL worldwide, with specific mutations linked to distinct ethnic groups. Genetic analysis of a biracial family with NSHL revealed a novel 35delG/235delC compound heterozygous state in phenotypically affected children. These results highlight the usefulness of Cx26 mutation screening for genetic counseling and suggest that the 235delC mutation is present in China as it is in Japan and Korea.


Subject(s)
Connexins/genetics , Deafness/genetics , Mutation , Adult , Child , Child, Preschool , Connexin 26 , Heterozygote , Humans , Pedigree , Prospective Studies
16.
Int J Pediatr Otorhinolaryngol ; 62(3): 229-35, 2002 Feb 25.
Article in English | MEDLINE | ID: mdl-11852126

ABSTRACT

RATIONALE: Children with neurologic impairment often present with airway obstruction that may require intervention. No single method of airway intervention is universally appropriate and effective in this patient population. This study was performed to examine the effectiveness of using adenotonsillectomy and uvulopalatopharyngoplasty (UPPP) in resolving obstructive apnea (OA) in patients with neurologic impairment. METHODS: A retrospective chart review of 15 patients with neurologic impairment and OA treated with adenotonsillectomy and UPPP between 1986 and 1998 at Children's Hospital of Wisconsin (CHW) was performed. All patients in the series had their primary area of obstruction in the posterior oropharynx involving the soft palate, pharyngeal walls and base of tongue. Post-operative improvement following adenotonsillectomy and UPPP was examined. Measures of improvement were based primarily on recorded lowest oxygen saturations, but clinical parameters, flexible upper airway endoscopy and polysomnography were used as well. RESULTS: Patient improvement was documented in 87% of patients treated with this modality. For the group, the mean lowest recorded oxygen saturation demonstrated a statistically significant improvement from 65% pre-operatively to 85% post-operatively (P = 0.005). In long-term follow-up of these patients, 77% (10 of 13) of those showing initial improvement have done well and have required no further airway intervention. However, 23% of these patients demonstrated the need for further airway intervention during follow-up. CONCLUSIONS: Adenotonsillectomy with UPPP is worthy of consideration in certain neurologically impaired patients with moderate to severe OA, limited primarily to the posterior pharyngeal area. Initial improvement may not be permanent and close long-term follow-up of patients is imperative.


Subject(s)
Nervous System Diseases/complications , Otorhinolaryngologic Surgical Procedures , Palate, Soft/surgery , Sleep Apnea, Obstructive/surgery , Adenoidectomy , Adolescent , Bronchoscopy , Child , Child, Preschool , Female , Humans , Infant , Male , Polysomnography , Retrospective Studies , Sleep Apnea, Obstructive/etiology , Tonsillectomy , Treatment Outcome
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