We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in-situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare.

Tonsillectomy is a very common procedure in children, often performed on an outpatient basis. Severe postoperative pain is common, and can be prolonged. Despite a large number of available analgesic medications, often employed in combination, achieving adequate pain control remains a persistent challenge. Research suggests a tendency among caregivers to undertreat pain, and a need for detailed care instructions and education to ensure adequate pain management. Furthermore, ongoing questions regarding the safety and efficacy of the most commonly used medications have led to wide variance in practice patterns and continuous reassessment through research that yields sometimes conflicting results. This review summarizes the current state of the literature and presents a management approach which attempts to maximize pain control while minimizing potential harm with combinations of medications and modification based on patient-specific factors.

IMPORTANCE Aural atresia (AA) is associated with maximal conductive hearing loss in affected ears, and children with bilateral AA require amplification. Some recent research has suggested an increased risk for speech and learning problems among children with unilateral sensorineural hearing loss. OBJECTIVE To investigate whether increased risk for speech and learning problems exists among children with AA. DESIGN Retrospective medical record review. SETTING Multidisciplinary craniofacial clinic. PARTICIPANTS Children with unilateral or bilateral AA. INTERVENTIONS Records review, including evaluations by audiologists, speech pathologists, and psychologists. MAIN OUTCOME MEASURES Rates of speech and/or language delay, prevalence of speech therapy and educational interventions, and parental report of psychosocial problems. RESULTS A total of 74 patients were identified who met inclusion and exclusion criteria: 48 with right-sided AA, 19 with left-sided AA, and 7 with bilateral AA. Children with AA demonstrated high rates of speech therapy (86% among bilateral, 43% among unilateral). Reports of school problems were more common among children with right-sided AA (31%) than those with left-sided AA (11%) or bilateral AA (0%) (P = .06). Educational interventions were common in all groups (33% right, 21% left, 43% bilateral). In the case of bilateral AA, all children who received additional interventions were enrolled in schools for the hearing impaired, without any identified learning deficiencies. CONCLUSIONS AND RELEVANCE Children with unilateral AA may be at greater risk of speech and learning difficulties than previously appreciated, similar to children with unilateral sensorineural hearing loss. Whether amplification may alleviate this risk is unclear and warrants further study.

We investigated the role of mouse adenovirus type 1 (MAV-1) early region 1A (E1A) protein in adenovirus respiratory infection. Intranasal (i.n.) inoculation of mice with wild type (wt) virus induced chemokine and cellular inflammatory responses in the lung. We observed similar responses in mice infected with an E1A-null mutant virus at the same dose, although the magnitude of these responses was lower. Levels of viral hexon gene expression were lower in the lung following infection with E1A-null virus than with wt virus. When input doses were adjusted so that equivalent viral loads were present following infection with varying doses of wt and E1A-null virus, we observed equivalent chemokine upregulation in the lung. Dissemination to the brain occurred following i.n. inoculation with equal doses of wt or E1A-null virus, but viral gene expression and viral loads were lower and the magnitude of chemokine responses was lower in brains of E1A-null virus-infected mice. CD4 and CD8 T cells and neutrophils were recruited to the brains of mice infected with either wt or E1A-null virus. Together, these data suggest that MAV-1 E1A makes important contributions to viral replication in the lung and the brain following i.n. inoculation. However, E1A is not essential for the induction of inflammatory responses in the lung or for viral dissemination out of the lung.