Tracheotomy in very low birth weight neonates: indications and outcomes.

OBJECTIVE/HYPOTHESIS: To review incidence of, indications for, and outcomes of tracheotomy in very low birth weight (VLBW) infants. STUDY DESIGN: Retrospective review in tertiary care hospital. METHODS: Eighteen VLBW (<1,500 g) infants with bronchopulmonary dysplasia undergoing tracheotomy in the neonatal intensive care unit between October 1997 and June 2002 were studied. Controls consisted of 36 VLBW infants undergoing intubation without tracheotomy, two per study infant, matched by gestational age and weight. Outcome measures included duration and number of intubation events, time to decannulation, complications, comorbidities, length of stay, and speech, language, and swallowing measures. RESULTS: Infants undergoing tracheotomy had an average duration of intubation of 128.8 days with a median number of 11.5 intubation events, both significantly greater than those of controls. Percentage of those with laryngotracheal stenosis was 44% of study infants had laryngotracheal stenosis compared to 1.6% in all intubated VLBW infants. The tracheotomy group had a significantly higher incidence of gastroesophageal reflux, pulmonary hypertension, and gastrostomy tube placement. The overall tracheotomy-related complication rate was 38.9%. Three were lost to follow-up, and five deaths occurred, two possibly tracheotomy-related. Six of ten were decannulated by an average time of 3.8 years, two of six after laryngotracheal reconstruction. Four of ten remained cannulated for a variety of reasons. Disorders of speech, language, and swallowing were common. CONCLUSIONS: When considering tracheotomy in VLBW infants, the total number of intubation events should be monitored as well as the total duration of intubation. The relatively high incidence of laryngotracheal stenosis argues for earlier endoscopy and possibly earlier tracheotomy in infants with developing stenoses.

Characterization of a stapes ankylosis family with a NOG mutation.

OBJECTIVE: To characterize the otologic phenotype in a family with autosomal dominant stapes ankylosis, hyperopia, and skeletal abnormalities caused by a mutation in the noggin gene (NOG). STUDY DESIGN: Case series. SETTING: Academic tertiary care center. PATIENTS: Eight affected and 3 unaffected family members. MAIN OUTCOME MEASURES: History, physical and radiologic examination, and surgical outcomes. RESULTS: Although affected members were initially presumed to have typical nonsyndromic otosclerosis, the clinical data were most consistent with an autosomal dominant congenital stapes ankylosis syndrome. Eight of eight affected family members had bilateral low-frequency conductive hearing loss. Six of eight underwent fenestration procedures and/or stapedectomies. All members with initial postoperative closure of the air-bone gap returned to their baseline conductive loss within 2 years. Two affected family members had documented maximal conductive hearing loss by age 4, and two members without previous otologic surgery have not experienced sensorineural hearing loss. High-resolution temporal bone computed tomography showed stapes ankylosis and indistinction of the incudomalleal junction bilaterally and bony regrowth over the stapedotomy for those with stapedectomies. Detailed physical and radiologic examination identified multiple other skeletal abnormalities. CONCLUSIONS: Although this phenotype may present as classic otosclerosis to the otolaryngologist, detailed investigation revealed a congenital stapes ankylosis syndrome. Because is essential in regulating normal bone development and maturation, mutations in this gene may be associated with excessive bony overgrowth and refixation of the stapes footplate after initial successful surgery. Patients with hereditary conductive hearing loss should be assessed to rule out subtle features of a skeletal syndrome.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

OBJECTIVE: To identify the genetic etiology in a family with autosomal dominant progressive sensorineural hearing loss. DESIGN: Prospective molecular genetic research study. SETTING: Academic genetic research laboratory. PARTICIPANTS: Seventeen members of a family with dominant progressive nonsyndromic sensorineural hearing loss: 9 affected, 6 unaffected, and 2 spouses. INTERVENTIONS: Clinical data from questionnaires, interviews, serial audiograms, and medical records; genetic data from genome-wide linkage analysis and candidate gene mutation analysis. MAIN OUTCOME MEASURES: Symptoms, age at onset, serial audiometric data, and the presence or absence of a deafness-associated mutation. RESULTS: Affected individuals in this family presented with autosomal dominant nonsyndromic high-frequency progressive sensorineural hearing loss, with age at onset ranging from 1 to 21 years. Genome-wide linkage analysis of single-nucleotide polymorphisms yielded evidence of linkage to an 18.9-Mb region on chromosome 1p34-p36, with a multipoint logarithm of odds score of 3.6. This interval contains a known deafness gene, KCNQ4, which underlies DNFA2 deafness. Sequencing of the 14 coding exons and intron-exon junctions of KCNQ4 revealed a novel heterozygous missense mutation, c.859G>C, p.Gly287Arg. The mutation disrupts the highly conserved GYG motif (glycine-tyrosine-glycine) of the phosphate-binding loop, hypothesized to be critical in maintaining pore structure and function. All 274 controls were negative for the mutation. CONCLUSIONS: Autosomal dominant high-frequency hearing loss is genetically heterogeneous, and linkage analysis is an efficient means of identifying the etiology in larger families. Deafness in this family is caused by a novel mutation in KCNQ4.

Role of ultrasound in thyroid disorders.

Thyroid ultrasonography has established itself as a popular and useful tool in the evaluation and management of thyroid disorders, both malignant and benign. Although its use has traditionally been the domain of radiologists, surgeons and endocrinologists are increasingly integrating this technology into their daily clinical and operative practice. This article provides an overview of the relevant uses and indications for ultrasound in various thyroid diseases, describes characteristic ultrasound findings in these diseases, and reviews the relevant literature and guidelines concerning its uses.

Primary squamous cell carcinoma of Stensen's duct in a patient with HIV: the role of magnetic resonance imaging and fine-needle aspiration.

BACKGROUND: Primary malignant tumors involving Stensen's duct are rare neoplasms, with less than 30 cases reported. We report a case of primary squamous cell carcinoma (SCC) involving Stensen's duct in a patient infected with human immunodeficiency virus (HIV) and describe the role of fine-needle aspiration (FNA) and MRI in the diagnosis of this rare entity. METHODS: A 47-year-old man with HIV presented with intermittent parotid swelling and pain unresponsive to conservative treatment. He subsequently developed a mass emanating from Stensen's duct, and an MRI and ultrasound-guided FNA revealed carcinoma of Stensen's duct. Total parotidectomy with postoperative external beam radiation therapy was performed. RESULTS: The patient remains disease free 31 months after treatment. CONCLUSIONS: Primary SCC of Stensen's duct is a rare entity that may mimic benign obstructive parotid disease. FNA and MRI are useful in the diagnosis and assessment of disease extent.

Full-thickness skin graft from the groin for coverage of the radial forearm free flap donor site.

PURPOSE: The purpose of this study is to describe the use of a full-thickness skin graft from the groin for coverage of the radial forearm free flap donor site. Our hypothesis is that the use of the full-thickness skin graft decreases morbidity and improves functional and cosmetic outcome at the skin graft donor site while also providing excellent coverage of the forearm donor site. STUDY DESIGN: This study used a retrospective chart review design. MATERIALS AND METHODS: Patients undergoing radial forearm free flap reconstructions from 1995 to 2005 were included. Forty patients underwent radial forearm free flap reconstruction with closure of the forearm donor site with a full-thickness skin graft harvested from the groin. The inguinal donor site was closed primarily. Medical records including clinic notes, operative reports, and photographs were reviewed. RESULTS: There was 1 minor wound dehiscence at the groin site, and there were 5 minor forearm wound dehiscences with 2 cases of tendon exposure; all dehiscences were treated conservatively with local wound care. Both the groin wound and forearm donor sites healed satisfactorily in all cases, with no impairment of function related to the skin graft. All patients expressed satisfaction with the postoperative pain, functional outcome, and cosmetic appearance related to both the skin graft and forearm donor sites. CONCLUSIONS: Full-thickness skin graft from the groin for coverage of the radial forearm free flap donor site is an effective, safe alternative to the traditional split thickness skin graft.

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Although fixation of the stapes is usually progressive and secondary to otosclerosis, it may present congenitally, with other skeletal manifestations, as an autosomal dominant syndrome-such as proximal symphalangism (SYM1) or multiple-synostoses syndrome (SYNS1), both of which are caused by mutations in NOG, the gene encoding noggin. We describe a family that was ascertained to have nonsyndromic otosclerosis but was subsequently found to have a congenital stapes ankylosis syndrome that included hyperopia, a hemicylindrical nose, broad thumbs and great toes, and other minor skeletal anomalies but lacked symphalangism. A heterozygous nonsense NOG mutation-c.328C-->T (Q110X), predicted to truncate the latter half of the protein-was identified, and a heterozygous insertion in NOG-c.252-253insC, in which the frameshift is predicted to result in 96 novel amino acids before premature truncation-was identified in a previously described second family with a similar phenotype. In contrast to most NOG mutations that have been reported in kindreds with SYM1 and SYNS1, the mutations observed in these families with stapes ankylosis without symphalangism are predicted to disrupt the cysteine-rich C-terminal domain. These clinical and molecular findings suggest that (1) a broader range of conductive hearing-loss phenotypes are associated with NOG mutations than had previously been recognized, (2) patients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild features of this syndrome, and (3) NOG alterations should be considered in conductive hearing loss with subtle clinical and skeletal features, even in the absence of symphalangism.