Nasal eschar: a warning sign of potentially fatal invasive fungal sinusitis in immunocompromised children.

Most invasive fungal sinusitis occurs in immunocompromised adult patients. We present the case study of a 12-year-old boy diagnosed with acute myeloblastic leukemia undergoing chemotherapy. He developed a progressive darkening discoloration over the dorsum of the nose that turned into an eschar. Nasal endoscopy revealed extensive necrotic tissue in the nasal cavity mucosa, inferior and middle turbinates, and septal cartilage that extended to the eschar of the skin over the nasal dorsum. Histopathology showed aspergillus invasive fungal rhinosinusitis.

Pediatric hearing impairment caregiver experience: impact of duration of hearing loss on parental stress.

OBJECTIVES: Caregivers of children who are deaf/hard of hearing have been reported to have greater stress than caregivers of children with normal hearing. The time of diagnosis is a particularly stressful time and stress levels may change over time based on varying needs at different life events. Thus, we hypothesized that stress experienced by caregivers evolves over time and is impacted by the duration since the diagnosis of hearing loss. METHODS: The 68-item pediatric hearing impairment caregiver experience (PHICE) is a validated questionnaire used to measure stress. The PHICE was administered to 152 caregivers of children with permanent hearing loss. Domain scores were converted into z-scores for analysis of trends of stress over time. RESULTS: Parents of children whose hearing loss was identified more than 60 months ago reported higher stress levels regarding educational aspects of their child's needs as compared to parents of children with less than 24 months or 24-60 months duration since diagnosis. Parents of children diagnosed with hearing loss within the preceding 24 months reported higher stress levels in the area of healthcare than parents of children diagnosed greater than 24 months ago. CONCLUSIONS: Parental stressors change over time with respect to the time of diagnosis of hearing impairment. This phenomenon was observed irrespective of the age of diagnosis of hearing loss. As professionals serving families of children with hearing loss, we should be aware of changing stressors over time and identify the appropriate support services for families to meet those changing needs. By addressing those evolving stressors, the families' ability to support and improve the outcomes for their children who are deaf or hard of hearing may be enhanced.

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.

OBJECTIVE: To determine the genotypic and phenotypic correlations of hearing impairment (HI) in a midwestern US population related to autosomal recessive nonsyndromic hearing loss locus 1 (DFNB1). DESIGN: A retrospective review. SETTING: Tertiary care children's hospital. PATIENTS: A total of 160 consecutive children diagnosed with idiopathic sensorineural hearing loss. MAIN OUTCOME MEASURES: GJB2 genotype and audiometric phenotype. RESULTS: The prevalence of subjects with HI having biallelic GJB2-related mutations was 15.3% (24/157). Of these 24 patients, 9 (38%) were homozygous 35delG, 6 (25%) had other biallelic nonsense mutations, and 9 (38%) had a missense mutation of at least 1 allele. The allelic prevalence of 35delG was 8.6% (27/314) in the study population and 48% (23/48) in the DFNB1 group. The M34T allele mutation was next most prevalent at 2.2% (7/314) in the study population and 10% (5/48) in the DFNB1 group. Severe to profound HI occurred in 59% of DFNB1 subjects. Genotypes with biallelic nonsense mutations had a high risk of severe to profound HI (88%). DFNB1-related HI was usually bilateral, symmetric, nonprogressive, and had flat audiograms. However, asymmetric HI (22%), sloping audiograms (26%), and even borderline-normal hearing in 1 ear was observed, and these were associated with the presence of at least 1 missense mutation. Two novel mutations, K15T and L90V, were identified. A subject presenting to our clinic with severe to profound HI had a 40% risk of biallelic GJB2 mutation. CONCLUSIONS: Our population represents a consecutively enrolled clinic population with sensorineural hearing loss. In our DFNB1-related HI cohort, the 35delG mutation and severe to profound HI rates were lower than previously reported. Our missense mutation and M34T allelic prevalence rates were higher than expected and were associated with a less severe hearing loss. The presence of biallelic nonsense mutations was associated with severe to profound hearing loss in nearly 90% of cases. Mild asymmetric HI and sloping audiograms were more often associated with missense mutations.

Head and neck trauma in hospitalized pediatric patients.

BACKGROUND: The study goal was to determine the presentation of head and neck trauma (HNT) in hospitalized pediatric subjects. Study design and setting Retrospective review of 257 subjects admitted to a level I pediatric trauma center. RESULTS: The male/female ratio of the subjects was 2.5:1, with a median age of 9.3 years. Also, 35.0% of subjects had associated major non-HNT. HNT anatomic sites varied with age. The leading major HNT was facial/base of skull fractures (FBSF). Motor vehicle trauma was significant in subjects older than 3 years, and bite and falls were significant in subjects younger than 3 years. FBSF increased 3.7 times (P = 0.02) for subjects older than 10 years compared with subjects younger than 3 years. CONCLUSION: The most common major HNT was FBSF, with older age at higher risk. Associated major non-HNT is high. Mechanisms of injury and sites of HNT vary with age. SIGNIFICANCE: This information may improve prevention counseling and aid preparation for the management of pediatric HNT.

Complications of metallic stents in the pediatric airway.

OBJECTIVE: Our aim was to present our experience with complications caused by placement of metallic stents in the pediatric airway. DESIGN AND SETTING: We conducted a retrospective study of the medical records of patients with complications resulting from metallic stent placement, managed by the senior authors between 1993 and 2002. RESULTS: Nine children had complications associated with the placement of metallic airway stents. Of these, 8 children required stent removal. Granulation tissue and tracheal stenosis were seen in all 7 children with long standing stent placement. There was 1 stent death in this series. CONCLUSIONS: Metallic airway stents can cause significant complications in the pediatric airway. These complications may supersede the airway compromise that necessitated their initial placement. As such, metallic stent placement should be approached with caution. The likelihood and severity of complications increase with time, as do the difficulties encountered upon removal. The proportion of patients in whom metallic stents may be placed "permanently" without complications is not known. Therefore we recommend that metallic airway stents be considered a temporizing measure of limited duration.

A diagnostic paradigm for childhood idiopathic sensorineural hearing loss.

OBJECTIVE: Our objective was to determine the diagnostic yield of laboratory testing, radiological imaging, and GJB2 mutation screening in a large cohort of patients with differing severities of idiopathic sensorineural hearing loss (SNHL). DESIGN AND SETTING: We undertook a retrospective study of patients presenting with SNHL at our institution from 1993 to 2002. RESULTS: Laboratory testing had an extremely low yield. Patients with unilateral SNHL had a significantly higher imaging yield than those with bilateral. The diagnostic yield of GJB2 screening was significantly higher in patients with severe to profound SNHL than in those with less severe SNHL. However, a relatively large number of patients with mild to moderate SNHL had positive GJB2 screens. CONCLUSIONS: Based on diagnostic yields, we propose a cost-effective stepwise diagnostic paradigm to replace the more commonly used and costly simultaneous testing approach. EBM RATING: C.

Validation of the Paediatric Hearing Impairment Caregiver Experience (PHICE) Questionnaire.

INTRODUCTION: The paediatric hearing impairment caregiver experience (PHICE) questionnaire is a 68-item instrument that assesses the stress experienced by caregivers of children with hearing impairment (HI). While the questionnaire has been validated in the United States, it may need to be modified for use in the Singapore context due to the differing healthcare system, costing and culture related to caregiving for children with HI. This study aims to modify and validate the PHICE questionnaire to increase its relevance and ease of use in Singapore. MATERIALS AND METHODS: The original PHICE questionnaire was filled out by 127 caregivers of HI children managed at the otolaryngology clinic of the National University Hospital (NUH). An expert panel was convened to assess the questionnaire for its suitability for use in Singapore. Exploratory factor analysis was conducted to evaluate the underlying factor structure of the original PHICE questionnaire. Items with high cross-loadings were removed and a new factor structure was adopted which was further analysed using confirmatory factor analysis (CFA). Cronbach's alpha (α) was computed to determine the internal consistency of the new subscales. RESULTS: Items that are less relevant in Singapore and those with high cross-loadings were removed. A 5-factor structure with only 42 items remaining and corresponding to the factors: " Policy", "Healthcare", "Education", "Support" and "Adaptation" was adopted. CFA suggests a good model fit for the modified questionnaire, improved from the 8-factor structure of the original PHICE. Cronbach's α were high (>0.7) for each new subscale. CONCLUSION: The original PHICE questionnaire has been shortened and reorganised in terms of the subscales composition. The resulting instrument is structurally valid and internally consistent. It is a simple and useful tool for identifying factors related to caregiving that can negatively impact rehabilitation outcomes for children with HI in Singapore. Removal of some sign language items makes this modified version less useful for caregivers, places or countries where sign language is the main focus of rehabilitation for children with HI.

A fully degradable tracheal stent: in vitro and in vivo characterization of material degradation.

We report on the testing of materials for a fully degradable tracheal stent. Such a stent has several advantages over currently used permanent stents made of metal or silicone polymers. However, the mode of degradation in the trachea is expected to be different from a fully submerged device, because of the uniqueness of the tracheal environment. A physical model was developed to allow an in-depth study of degradation of bioabsorbable polymers exposed to two differing media; namely 70 wt % water (gel) on one side and humidified air on the other, simulating conditions in a tracheal passage. Longitudinal microtome slices were obtained from both polymer surfaces and degradation kinetics data were derived from size exclusion chromatography. On the basis of the data obtained, it is observed that well-studied bulk-degrading polymers might show surface-eroding properties in such an environment. Generally, hydrophobic polymers retard the formation of a water concentration gradient and exhibit bulk-degradation kinetics. However, addition of specific plasticizers can influence the water uptake gradient, and force the polymer towards a pseudo "surface-eroding" behavior. In vivo studies in a rabbit model of degradable stents made from a selected polymer, demonstrate the feasibility of a fully bioabsorbable tracheal stent. This study aims to improve understanding of degradation of polymers under heterogeneous environments.

A multidisciplinary approach to paediatric hearing loss: programme at the centre for hearing intervention and language development, National University Hospital, Singapore.

The objective is to describe the multidisciplinary management programme at the National University Hospital (NUH) in Singapore for children with hearing impairment (HI). Over 99.95% of babies born at NUH have hearing tested with both otoacoustic emission and automated auditory brainstem response tests by 6 weeks of age. The referral rate to Otolaryngology is 0.5%. Acquired causes of congenital HI are decreasing. Thirty percent of patients at NUH with idiopathic congenital sensorineural HI have DFNB1/ GJB6 Connexin 26 HI. CT scan or MRI imaging has a higher diagnostic yield when there is unilateral, fluctuating or non-Connexin 26 related HI. Routine electrocardiogram and Opthalmology evaluations will exclude associations of fatal cardiac rhythm anomaly and retinopathy. Other investigations are directed by history and clinical examination. There is now a very wide range of increasingly sophisticated medication, neuro-otologic external, middle and inner ear surgery, hearing aids, middle ear implants and cochlear implants available to improve hearing. A multidisciplinary team from neonatology, paediatrics, otolaryngology, audiology, auditory verbal and speech therapy, ophthalmology, radiology, and psychology working closely with the child, family and schools is needed to develop a cost-effective and comprehensive management programme for paediatric HI.

A rare case of combined type I and II first branchial sinus.

The authors report a rare case of first branchial sinus with combined Work's type I and type II characteristics. Instead of a sinus opening in the neck, this sinus opened above the angle of the jaw in the face. The facial nerve was significantly more superficial to the tympanomastoid suture line than normal. Early diagnosis, ensuring complete resection, and avoidance of facial nerve injury are challenging issues discussed here.

Refining the DFNB17 interval in consanguineous Indian families.

We previously mapped the DFNB17 locus to a 3-4 cM interval on human chromosome 7q31 in a large consanguineous Indian family with congenital profound sensorineural hearing loss. To further refine this interval, 30 new highly polymorphic markers and 8 SNPs were analyzed against the pedigree. Re-analysis in the original DFNB 17 family and additional data from a second unrelated consanguineous family with congenital deafness found to map to the interval, limited the area of shared homozygosity-by-descent (HBD) to approximately 4 megabase (Mb) between markers D7S2453 and D7S525. Nineteen known genes and over 20 other cDNAs have been identified in the refined DFNB 17 interval, including the SLC26A4 gene. We have analyzed 4 other cochlear-expressed genes that map to the DFNB17 interval as candidate genes. Analysis of coding and splice site regions of these cochlear expressed genes did not reveal any disease causing mutations. Further study of other candidate genes is currently underway.