William P. Potsic

Relief of Upper Airway Obstruction by Adenotonsillectomy

Adenotonsillectomy is often performed to relieve upper airway obstruction, even in children who do not present with severe apnea. Although adenotonsillectomy provides dramatic relief from obstructive sleep apnea, little evidence is available as to the efficacy of surgery in the far more prevalent cases of partial airway obstruction. We report the results of a prospective study of 100 children with adenotonsillar obstruction (without severe apnea) and 50 age-matched control children. The majority of patients exhibited appreciable sleep disturbances preoperatively, as compared to controls, and had substantial postoperative improvement, as demonstrated by parental questionnaire and sleep sonography—the computer-aided analysis of respiratory sounds. Mouth breathing and behavior problems were also prevalent preoperatively and were affected positively by adenotonsillectomy. It appears that surgery in such cases can have far-ranging benefits, even for the child whose obstruction does not demonstrate severe apnea.

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented recessive cases of hearing loss. Two mutations, 35delG and 167delT, account for the majority of reported mutations in this gene, but to date, more than 60 mutations have been described. No other single gene has yet been identified that contributes this significantly to the aetiology of hearing loss. Several mutations in this gene have been found to predominate in specific ethnic populations (167delT in Ashkenazi Jews and 235delC in Japanese individuals). While the majority of mutations found in Cx26 result in frame shifts and premature terminations, a number of missense mutations have also been identified. The V37I missense mutation has been reported as both a polymorphism and as a potentially disease‐causing missense mutation. The present authors have identified three unrelated individuals with sensorineural hearing loss who are homozygous for this mutation. One individual is of Philippine ancestry, another is from a Chinese and Cambodian background, while the third is of Chinese ancestry, raising the possibility that this mutation may be more frequent among populations in eastern Asia.

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.

Hearing loss (HL) occurs in approximately 2 out of every 1,000 births and is genetic in origin in approximately 50% of cases. This high incidence coupled with the increasing number of genes implicated in HL and the trend toward universal newborn screening led to the establishment of the Genetics of Hearing Loss Clinic at The Childrens Hospital of Philadelphia to manage the diagnosis, genetic screening, and counseling of families with an affected child. To date 500 individuals have been evaluated from 1999 to 2004. To determine the cause of their HL and screen for syndromic forms of HL, individuals were offered a panel of tests. Depending on the type and severity of the HL, recommendations included GJB2 mutation analysis, renal and thyroid function studies, a CT scan of the temporal bones, an ophthalmology evaluation, an EKG, and, at times, additional genetic tests. Of the 500 patients evaluated 70 (14%) had a syndromic etiology for their HL. Twenty‐eight different syndromic etiologies were identified. Enlarged vestibular aqueducts (EVAs) and/or Mondini malformations were seen in 18% of individuals with HL who had a CT or MRI of the temporal bones. Genetic testing of the GJB2 gene was completed for 310 of the 377 patients with bilateral sensorineural HL (82.2%). Nineteen different variants were identified in the GJB2 gene. Through GJB2 mutational analysis, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 110/500 (22%) of patients.

Auditory brain-stem response and temperature: relationship in the guinea pig

The neurological applications of the auditory brain-stem response depend largely on the stability of the interval between the peaks of waves I and V. Using guinea pigs, it was demonstrated that hyperthermia and small temperature changes, as well as hypothermia, may affect interpeak latency (IPL) sufficiently to affect its clinical interpretation. The relationship between temperature and IPL is specified by a power function such that there is a 5.3% increase in IPL for a 1 degree C drop. Although the constant for humans may differ from that of guinea pigs, the results of this animal study demonstrate that the relationship between temperature and IPL is invariant from 27 degrees C to 40 degrees C.

Management of craniofacial sarcoma in childhood assisted by computed tomography

Abstract Experience with 16 children diagnosed between 1975 and 1977 with previously untreated craniofacial sarcoma has shown that computed tomography (CT) scans are useful in defining the extent of the primary tumor including meningeal or intracranial extension, designing radiotherapy treatment fields, and following response to therapy. Involvement of the cranial base was present in 8 of 16, 5 of whom had intracranial extension at diagnosis. In 1 of these 5, intracranial extension was not suspected prior to CT scanning. Fifteen patients had CT scans before initial chemotherapy. Serial scans were obtained on 13 patients after chemotherapy and 4000–6000 rad of radiotherapy to the primary tumor. In 10 of 13, the tumor disappeared completely. Fatal meningeal extension occurred in 3 of these 16 patients within 1 year of diagnosis, despite whole brain irradiation in 2 of the 3. We conclude that CT scans are a useful, non-invasive means of assessing tumor extent and the results of treatment for childhood craniofacial sarcoma. The occurrence of fatal meningeal extension in 3 patients suggests the need for more vigorous treatment of the central nervous system in children with craniofacial sarcoma. sarcoma.

Hearing loss induced by viscous fluids in the middle ear

Dextran solutions of low viscosity (7.5 centipoise) and high viscosity (2.2 poise) were instilled in turn into the middle ears of guinea pigs, using an open bulla preparation. The degree of conductive hearing loss induced was assessed by measurement of the cochlear microphonic. Both solutions produced a comparable degree of hearing loss which was frequency dependent, ranging from 30 dB at 500 Hz to almost zero at 4000 Hz. The results indicate that the degree of conductive hearing loss produced by a serous effusion in otitis media is due solely to an effect on compliance in the middle ear and is independent of the viscosity of the effusion.

Elusive Unsuspected Foreign Bodies in the Tracheobronchial Tree: A Nidus for Infections That May Be Quiet for Long Periods of Time

This is one of the leading causes of accidental death in children under six years of age. The course of the illness that follows foreign body aspiration depends on the age of the child, the irritative and other characteristics of the foreign body, and its length of stay in the tracheobronchial tree. In most such accidents the presence of a foreign body in the airway is immediately suspected by the ‘

TOTAL AND PARTIAL OSSICULAR REPLACEMENT PROSTHESES IN CHILDREN

Although ossicular reconstruction in children may carry a risk of failure because of recurrent middle ear disease, the procedure offers the potential for restoring binaural hearing during the school years when it is so critical. Of a series of 45 reconstructions with total and partial ossicular replacement prostheses, 6 were extruded for a surgical success rate of 87%. Of the successful cases, 74% had air-bone gaps of 30 dB or better, and 74% had speech reception thresholds of 30 dB or better on initial postoperative audiogram. Outcomes for these children were comparable with those reported for adults, supporting the value of early reconstruction.

Computed tomography of cervical cystic hygroma in the neck

The computed tomography findings in 4 infants and children with surgically proved cystic hygroma of the neck were reviewed and correlated with pathologic specimens. Cervical cystic hygroma characteristically appears on CT scan as a multiloculated cystic mass with smooth septa of variable thickness, which enhances uniformly following bolus injection of contrast media administration. This CT pattern can usually be used to differentiate cystic hygromas from other cervical masses such as soft tissue sarcomas. CT is also helpful in determining the extent of the lesion prior to the surgery and in assessing the recurrences.

Clinical Review : Stridor in the First Year of Life The Clinical Evaluation of the Persistent or Intermittent Noisy Breather

From The Department of Otorhinolaryngology and Human Communication, Children’s Hospital of Philadelphia and the University of Pennsylvania. Correspondence to: William P. Potsic, M.D., The Department of Otorhinotaryngology and Human Communication, Children’s Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, PA 19104. STRIDOR (NOISY BREATHING) is the expression of partial respiratory tract obstruction. The obstruction may lie either within the air channel, or be the result oE’