We evaluated functional results of surgical treatment for squamous cell carcinoma of the nasal vestibule.A retrospective review of 2,763 patients treated for head and neck cancers between 1991 and 2000 revealed 10 cases of nasal vestibule tumors, with an incidence of 0.36%. All the patients were males with a mean age of 64.8 years (range 58 to 72 years). Based on the classification system of the AJCC 1992 for skin cancers, and the UICC classification for neck metastasis, three patients had T2, three patients had T3, and four patients had T4 tumors. Lymph node metastasis was present in three patients. Nine patients were treated with surgery as the primary treatment. One patient underwent surgical salvage following radiotherapy failure. The mean follow-up period was 3.65 years (range 6 months to 12 years).Three patients with metastatic neck disease and four patients with advanced tumors underwent radical neck dissection and selective supraomohyoid neck dissection, respectively. Seven patients underwent reconstruction with paramedian forehead flap (n=3), nasolabial flap (n=2), aural composite graft, or split thickness flap. Including the one with radiotherapy failure, two patients died within the first postoperative year due to local and neck recurrences. Another patient died in the postoperative third year due to metastatic squamous cell carcinoma of the lung. No cosmetic or functional complaints were observed in patients with early stage lesions. Two patients with advanced tumors had nasal ventilation problems and a secondary revision procedure was required in one.Surgery is a successful therapeutic modality for carcinoma of the nasal vestibule, especially when applied in conjunction with proper reconstruction techniques and, when necessary, neck dissection procedures.
Malignant peripheral nerve sheath tumors arising from the parotid gland are very rare. They can develop as sporadic cases, or on the basis neurofibromatosis type 1. Tumors originating from the parotid gland are generally easy to palpate and have a solid characteristic. Even if the tumor is malignant in character, the incidence of facial paralysis at the time of diagnosis is around 15% in various studies. However, a malignant tumor originating from the nerve itself may not be noticed during the physical examination for a long period time although it cases facial paralysis and may be mistaken with other non-neoplastic diseases involved in the etiology of facial paralysis leading to a delay in the diagnosis and treatment. Especially patients with type 1 neurofibromatosis have a great tendency to develop malignant peripheral nerve sheath tumors. In this article a case of malignant peripheral nerve sheath tumor developed on the basis of neurofibromatosis type 1 was reported.
Mutations in genes encoding gap‐ and tight‐junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with autosomal‐recessive inherited non‐syndromic sensorineural hearing loss (NSSHL). GJB2 mutations were found in 31.7% of the families, and the GJB2– 35delG mutation accounted for 73.6% of all GJB2 mutations. The carrier frequency of GJB2– 35delG in the normal Turkish population was found to be 1.17% (five in 429). In addition to the described W24X, 233delC, 120delE and R127H mutations, we also identified a novel mutation, Q80R, in the GJB2 gene. Interestingly, the Q80R allele was inherited on the same haplotype as V27I and E114G polymorphisms. As little is known about the mutation frequencies of most other recently identified gap‐ and tight‐junction genes as a cause for hearing loss, we further screened our patients for mutations in GJB3 (Cx31), GJA1 (Cx43), Δ GJB6 –D13S1830 (Cx30) and the gene encoding the tight‐junction protein, claudin 14 ( CLDN14 ). Several novel polymorphisms, but no disease‐associated mutations, were identified in the CLND14 and GJA1 genes, and we were unable to detect the Δ GJB6 –D13S1830 deletion. A novel putative mutation, P223T, was found in the GJB3 gene in heterozygous form in a family with two affected children. Our data shows that the frequency of GJB2 mutations in Turkish patients with autosomal‐recessive NSSHL and the carrier rate of the GJB2– 35delG mutation in the Turkish population, is much lower than described for other Mediterranean countries. Furthermore, mutations in other gap‐ and tight‐junction proteins are not a frequent cause of hearing loss in Turkey.
In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea.
Neonatal hyperbilirubinemia remains an important cause of childhood deafness, especially in developing countries. After neonatal hyperbilirubinemia, the auditory neural pathways, cochlea, or both may be affected. In this study, we aimed to determine the incidence of cochlear impairment and the appropriate means of hearing screening in hyperbilirubinemic neonates. A retrospective review of 1,032 pediatric patients with hearing loss revealed 67 cases (6.5%) of severe hyperbilirubinemia in the neonatal period. Thirty of these patients had neonatal hyperbilirubinemia as the single identifiable risk factor for hearing loss. In 26 of 30 cases (87%), otoacoustic emissions (OAEs) were absent, whereas in the remaining 4 cases (13%), robust emissions were detected despite an absent auditory brain stem response (ABR). Auditory screening of newborns with jaundice by OAEs possesses a significant risk of undiagnosed deafness. On the other hand, if the ABR is used as the single means of screening, auditory neuropathic conditions will probably be underlooked. Therefore, we recommend dual screening of hearing by ABR and OAEs in hyperbilirubinemic newborns.
