Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome.

In the present study we assessed the prevalence and nature of hearing loss in patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) due to single large-scale mitochondrial DNA (mtDNA) deletion or mtDNA tRNA (Leu (UUR)) A3243G point mutation (A3243G PM). 14 patients with mtDNA deletion and three patients with A3243G PM underwent audiological evaluation comprising pure-tone and speech audiometry as well as transient evoked otoacoustic emissions (OAE). Audiological evaluation revealed hearing impairment in 10/17 patients.

Recurrent laryngeal nerve palsy during anterior cervical spine surgery: a prospective study.

Object: Recurrent laryngeal nerve (RLN) palsy is a well-known complication of cervical spine surgery. Nearly all previous studies were performed without laryngoscopy in asymptomatic patients. This prospective study was undertaken to discern the true incidence of RLN palsy.

[Development of a database system for multicentric ENT tumor documentation].

Background: Multicentric clinical studies have a great impact on progress in diagnostics and therapy in oncology. However, multicentric retrospective clinical trials require a common documentation standard.

Methods: A network enabled tumor documentation program based on a relational database system was developed for the management of multicentric clinical studies.

Association between head and neck cancer and microsomal epoxide hydrolase genotypes.

Tobacco-associated carcinogens are catalyzed by microsomal epoxide hydrolase (mEH). Combinations of the Y113H and H139R polymorphic EPHX1 variants have been assumed to alter the enzyme activity and thus the risk of squamous cell head and neck cancer (SCCHN). Based on in vitro data, a putative low, medium and high mEH activity has been associated with combinations of these genotypes, and the respective activity categories have been frequently used in the estimation of risks for smoking-related cancers.

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

The gap junction protein connexin30 (Cx30) is expressed in a variety of tissues that include epithelial and mesenchymal structures of the inner ear. We generated Cx30 (Gjb6) deficient mice by deletion of the Cx30 coding region. Homozygous mutants (Cx30((-/-))) were born at the expected Mendelian frequency, developed normally and were fertile.

Real-time PCR analysis of the N-acetyltransferase NAT1 allele *3, *4, *10, *11, *14 and *17 polymorphism in squamous cell cancer of head and neck.

Although tobacco smoke has been established as a main risk factor in the development of head and neck squamous cell cancer (HNSCC), genetic polymorphisms of xenobiotic metabolizing enzymes are supposed to modulate an individual's susceptibility to smoking-related HNSCC. N-acetyltransferase (NAT) 1 gene is known to be polymorphic and its protein product is implicated in the activation and detoxification of carcinogens, such as aromatic amines, present in tobacco smoke. We developed a rapid and reproducible LightCycler-assisted real-time polymerase chain reaction (PCR) for NAT1 genotyping, which allowed the parallel differentiation of NAT1*3, *4, *10 and *11 alleles and separately of NAT1*14 and *17 alleles within 60 min without the need for further post-PCR processing.

Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.

Tobacco use is causally associated with head and neck squamous cell cancer (HNSCC). Here, we present the results of a case-control study that investigated the effects that the genetic variants of the cytochrome (CYP)1A1, CYP1B1, glutathione-S-transferase (GST)M1, GSTT1, and GSTP1 genes have on modifying the risk of smoking-related HNSCC. Allelisms of the CYP1A1, GSTT1, GSTM1, and GSTT1 genes alone were not associated with an increased risk.

Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions.

To assess dysphagia, the authors examined 12 patients with Kearns-Sayre syndrome (KSS) or chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) deletion by videofluoroscopy and manometry. Cricopharyngeal achalasia was documented in nine of 12 patients (75%), whereas deglutitive coordination problems were found in one patient. Cricopharyngeal myotomy may be an effective treatment in selected cases with severe cricopharyngeal obstruction.

Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.

Mutations in the human GJB3 gene that codes for Connexin31 (Cx31), a protein subunit of gap junction channels, have recently been reported to cause deafness and the skin disorder erythrokeratodermia variabilis. To study the function of this gene in mice, we generated animals with targeted replacement of the Cx31 gene (Gjb3) by a lacZ reporter gene. Although homozygous Cx31-deficient adult mice (Gjb3(-/-)) were found among the offspring of heterozygous Cx31-deficient parents (Gjb3(+/-)), 60% of the animals expected according to Mendelian inheritance were lost between ED 10.

The role of airway stents in the management of pediatric tracheal, carinal, and bronchial disease.

Objective: A variety of stents are available to aid in the management of complex tracheal, carinal and bronchial stenoses. We reviewed our multi-institutional experience with airway stents in children.

Methods: Thirty-three children (age, 13 days-18 years) from four institutions have had a total of 40 stents placed to aid in the management of complex airway stenoses.

[Influence of comorbidity on the prognosis of squamous cell carcinoma in the head and neck].

Background: The influence of comorbidity on the healing process and the prognosis of patients with carcinoma of the head and neck region undergoing surgical treatment is not clear.

Patients And Methods: In a retrospective study we examined the influence of coexistent diseases in 203 patients, hospitalized for curative surgical treatment. Findings on admission, supplemented by medical, anaesthesiological and neurological assessments, helped to form two subgroups: one of patients with minimal comorbidity (n = 135) and one with high comorbidity (n = 68).

[Long-term results of homograft reconstruction of the trachea in childhood].

Background: The treatment of long-segment tracheal stenosis in children is a biological and operative problem. The introduction of preserved allografts established new possibilities for functional tracheal reconstruction. The development of tracheal dimensions in the course of growing is often discussed.

In situ measurement of articular cartilage deformation in intact femoropatellar joints under static loading.

The deformational behavior of articular cartilage has been investigated in confined and unconfined compression experiments and indentation tests, but to date there exist no reliable data on the in situ deformation of the cartilage during static loading. The objective of the current study was to perform a systematic study into cartilage compression of intact human femoro-patellar joints under short- and long-term static loading with MR imaging. A non-metallic pneumatic pressure device was used to apply loads of 150% body weight to six joints within the extremity coil of an MRI scanner.

Tracheal allograft reconstruction: the total North American and worldwide pediatric experiences.

Background: We reviewed both the North American and the total worldwide pediatric experience with tracheal allograft reconstruction as treatment for patients with long segment and recurrent tracheal stenosis.

Methods: The stenosed tracheal segment is opened to widely patent segments. The anterior cartilage is resected and the posterior trachealis muscle or tracheal wall remains.