Stavros Korres

JUVENILE RECURRENT RESPIRATORY PAPILLOMATOSIS: STILL A MYSTERY DISEASE WITH DIFFICULT MANAGEMENT

Juvenile recurrent respiratory papillomatosis (RRP) is the most common benign neoplastic disease of the larynx in children and adolescents and has a significant impact on patients and the health care system with a cost ranging from

Outcomes and efficacy of newborn hearing screening: strengths and weaknesses (success or failure?).

60,000 to

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.

470,000 per patient. The aim of this paper is to review the current literature on RRP and summarize the recent advances. RRP is caused by human papillomavirus (HPV; mainly by types 6 and 11). Patients suffer from wart‐like growths in the aerodigestive tract. The course of the disease is unpredictable. Although spontaneous remission is possible, pulmonary spread and malignant transformation have been reported. Surgical excision, including new methods like the microdebrider, aims to secure an adequate airway and improve and maintain an acceptable voice. Repeated recurrences are common and thus overenthusiastic attempts to eradicate the disease may cause serious complications. When papillomas recur, old and new adjuvant methods may be tried. In addition, recent advances in immune system research may allow us to improve our treatment modalities and prevention strategies. A new vaccine is under trial to prevent HPV infection in women; the strongest risk factor for juvenile RRP is a maternal history of genital warts (transmitted from mother to child during delivery). Better understanding of the etiology of the disease and the knowledge of all available therapies is crucial for the best management of the affected patients.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

Objective: To assess the outcomes of neonatal hearing screening with regard to the final diagnosis in a very large number of newborns and investigate related strengths and weaknesses of the program.

Sudden hearing loss in a family with GJB2 related progressive deafness

Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein. One specific mutation in this gene, 35delG, accounts for the majority of GJB2 mutations detected in Caucasian populations. Some previous studies have assumed that the high frequency of the 35delG mutation reflects the presence of a mutational hot spot, while other studies support the theory of a common founder. Greece is among the countries with the highest carrier frequency of the 35delG mutation (3.5%), and a recent study raised the hypothesis of the origin of this mutation in ancient Greece. We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers inside or flanking the GJB2 gene. The allele distribution in the patients was compared to 60 Greek normal hearing controls. A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation.

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Mitochondrial DNA mutations are undoubtedly a factor that contributes to sensorineural, non-syndromic deafness. One specific mutation, the A1555G, is associated with both aminoglycoside-induced and non-syndromic hearing impairment. The mutation is considered to be the most common of all mitochondrial DNA deafness-causing mutations but its frequency varies between different populations. Here we report on the first large screening of the A1555G mitochondrial DNA mutation in the Greek population. The aim of this study was to determine the frequency of the A1555G mutation in Greek sensorineural, non-syndromic deafness patients, with childhood onset. We screened 478 unrelated Greek patients with hearing loss of any degree and found two individuals harboring the A1555G mutation (0.42%). Both cases had been subjected to aminoglycosides. They were prelingual, familial and homoplasmic for the A1555G mutation. One of the cases was also found heterozygous for the frequent GJB2 35delG mutation, while the other case was negative. The A1555G mutation seems to be less common than in other European populations.

Should We Use Ossicular Remnants in Ossicular Reconstruction following Cholesteatoma Removal

Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One specific mutation, the 35delG, has accounted for the majority of mutations detected in the GJB2 gene in Caucasian populations. Recent studies have described progression of hearing loss in a proportion of cases with GJB2 deafness. We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss.

Late Detection of Hearing Loss in a Case with Middle Ear Congenital Abnormality

OBJECTIVE Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation. METHODS Clinical, cytogenetic, and molecular methods were employed in this study. RESULTS We describe the high variability of phenotypes among three family members harboring the G7444A mutation and also the frequent GJB2 c.35delG mutation of the nuclear genome in heterozygosity. Their phenotypes ranged from normal hearing to deafness, while the proband presented with several other symptoms. CONCLUSIONS The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation.

Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation

The remnants of the acoustic ossicles have been used in ossicular reconstruction during mastoid surgery for many decades. The present study assessed the status of the acoustic ossicles in 114 patients (57 with cholesteatoma and 57 without) during surgery for chronic otitis media using the operating microscope. In 52 cases, the ossicles (malleus and/or incus) were assessed using both the surgical and scanning electron microscope in order to reveal any erosions and compare the findings. From the 57 operated ears with cholesteatoma, 45 (79%) had ossicular erosion whereas 12 (21%) did not. In the group of 57 operated ears with chronic otitis media without cholesteatoma, 33 (58%) had ossicular erosion whereas 24 (42%) did not. This difference was statistically significant (p = 0.02). With regard to the 52 operated cases who were studied with both microscopes, in the cholesteatoma patients the surgical microscope was not able to reveal any ossicular erosions in 39% of the cases, whereas the scanning electron microscope revealed moderate or severe erosions in the same ears. This suggests that the operating microscope is not reliable enough to determine if ossicular remnants can be used in ossicular reconstruction following cholesteatoma surgery. There is a considerable risk that epithelia or other cholesteatoma particles remain in the areas of erosions that cannot be seen with the operating microscope. The use of such ossicular remnants may lead to cholesteatoma recurrence and failures in mastoid surgery. Therefore, autoclaving or alternative prosthesis may be considered in such cases.

Paraganglioma of the larynx: a case report

The present paper describes a rare case of a unilateral congenital ossicular abnormality that presented in adulthood. A unilateral conductive hearing loss was revealed during a routine examination for a professional driving license. Differential diagnosis included otosclerosis and ossicular anomalies. Our patient, a 40-year-old man, had no history of otitis media or trauma to the head and he was not aware of his hearing loss. Exploratory tympanotomy revealed absence of the long process of the incus and of the stapes. A remnant of the underdeveloped stapes footplate was removed and reconstruction of the defect using a 5.0-mm malleus-oval window prosthesis had an excellent result with complete restoration of the air-bone gap. The patient experienced binaural hearing with great excitement.