Analysis of Paparella Type 1 tympanostomy tubes in pediatric patients: A single-center retrospective review.

OBJECTIVE: This study aims to evaluate the demographic characteristics, indications for surgery, clinical follow-up results and complication rates of pediatric patients who have received a Paparella Type 1 tympanostomy tube (TT) insertion. METHODS: Retropective review of 816 ears of 442 pediatric patients who received Paparella type 1 tympanostomy tube insertions was performed. The patients' age, indication for surgery, middle ear effusion, time to extrusion and postoperative complications were analyzed retrospectively. Ears operated for chronic otitis media with effusion (COME) and recurrent acute otitis media (RAOM) were included in the study. Ears that underwent tympanostomy tube insertion for middle ear atelectasis and suppurative complications of acute otitis media were excluded from the study. Ears with middle ear effusion mucoid and serous were included. Ears without middle ear effusion or with purulent effusion were excluded from the study. Patients with a cleft palate, Down syndrome, craniofacial anomalies and those without regular follow-up until their tubes were extruded, were excluded from the study. RESULTS: The mean age of surgery was 5.11 years. 54.3 % of the patients were male and 45.7 % were female. 734 (90 %) tube insertions were performed for patients with COME and 82 (10 %) for those with RAOM. Mucoid middle ear effusion was observed in 86.9 % and serous in 13.1 %. The mean extrusion time of the tubes was 7.16 months. 93.1 % of the tubes were extruded spontaneously within 1 year and 99.9 % within 2 years. Postoperative complications of patients that were included were 8.7 % with otorrhea, 7.7 % premature extrusion, 8.2 % tube occlusion, 0.2 % displacement into the middle ear, 8.2 % tympanic membrane changes (5.4 % sclerosis, 2.3 % retraction and 0.5 % atrophy), 1.2 % permanent perforation, 0.1 % cholesteatoma and 0.1 % retained their tube. Premature extrusion was found to be significantly higher in the RAOM group compared with the COME group (p = 0.042). Tube extrusion time did not affect tympanic membrane changes (p = 0.061). CONCLUSIONS: Complication rates after Paparella Type 1 tube insertion are low. The incidence of complications such as otorrhea and tube occlusion were not significantly different between the indication and middle ear effusion groups. Compared to COME group, premature extrusion were found more frequently in the RAOM group. Complications of displacement into the middle ear, permanent perforation, cholesteatoma and retained tube were much rarer.

Novel EYA1 variants causing Branchio-oto-renal syndrome.

INTRODUCTION: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. METHODS AND MATERIALS: Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. RESULTS: We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. CONCLUSIONS: A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.

Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review.

We present an extremely rare case of a pleomorphic rhabdomyosarcoma of the true vocal fold. The histopathological diagnosis was confirmed by immunohistochemistry. The patient was treated with radical surgery including total laryngectomy and radical neck dissection followed by postoperative radiotherapy. The clinicopathologic features of this rare malignancy are discussed together with a review of the literature. This case report and literature review highlights the more favorable prognosis of pleomorphic rhabdomyosarcoma in the larynx than in other locations.

A giant frontoethmoid mucocele with intracranial extension.

Mucoceles are mucus-containing cysts lined by epithelium. Although benign, they may show expansive growth and remain undiagnosed until symptoms due to compression of surrounding structures arise. We report a rare case of frontoethmoid mucocele with intracranial extension in an 80-year-old woman with complaints of headache, right diplopia and proptosis. A right frontoorbital craniotomy was performed, and a mucocele in the frontal sinus extending into the frontal lobe and orbit was totally removed. The patient was successfully treated without any complication. The two-year follow-up results were satisfactory. Magnetic resonance imaging excluded any recurrence of the mucocele. Combined intranasal and transcranial approach is necessary to treat giant frontoetmoid mucoceles with intracranial extension.

Verruca vulgaris of the tongue: a case report with a literature review.

UNLABELLED: Verruca vulgaris (common warts) is a benign lesion of skin and mucous membranes caused by human papillomavirus (HPV). The lesions are typically self-limited but may vary in size and number. The occurrence on the tongue is extremely rare. To the best of our knowledge, only one verruca vulgaris existing in the tongue had been reported in the literature. CASE PRESENTATION: A rare case of verruca vulgaris of the tongue occurring in a 36-year-old Caucasian male is presented with a discussion on ethiopathogenesis and the treatment methods. Verruca vulgaris must be remembered in the differential diagnosis of tongue lesions and surgical treatment may provide satisfactory outcomes.

Delayed diagnosis of cleidocranial dysplasia in an adult: a case report.

OBJECTIVE: To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT: We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth and broad sutures were identified at radiographic examination. CONCLUSION: Cleidocranial dysplasia is very rare, and is commonly missed or diagnosed late. Radiographic findings are essential for diagnosis. An open frontal fontanel is a particularly important finding for neurosurgeons in diagnosis. We describe this rare case and discuss the clinical features of CCD.

Wegener's granulomatosis with an atypical presentation as acute tonsillitis.

Wegener's granulomatosis (WG) is a rare necrotizing granulomatous vasculitis of unknown etiology commonly involving vessels, the upper and lower respiratory system and the kidneys. There are various symptoms and signs of WG due to a wide spectrum of involvement sites. The initial presentation of the disease as intraoral lesions is rare. In this paper, a case of WG that presented with a necrotic lesion confined to the right tonsil before other symptoms and signs occurred is described. The diagnosis was established based on the clinical presentation and the histopathological findings of the characteristic inflammatory pattern.

Effects of topical nasal steroids and diclofenac on the nasal mucosa during hyperbaric oxygen therapy: a double-blind experimental study.

We aimed to evaluate nasal mucosal changes and efficiency of nasal steroids and diclofenac on nasal mucosa during hyperbaric oxygen (HBO) treatment. Forty adult Albino-Wistar rats were randomized into four groups. Group 1 (control group) (n = 10) not exposed to hyperbaric or enhanced oxygen concentrations; group 2 (HBO group) (n = 10) underwent only HBO treatment; group 3 (n = 10) received HBO and intranasal mometasone furoate (10 µl/day); group 4 (n = 10) treated with HBO and diclofenac sodium (10 mg/kg/day ip). Specimens of nasal mucosa were collected after sacrificing and dissection of animals. The specimens were processed for light microscopic evaluation, and then evaluated histopathologically for fibroblastic proliferation and inflammation. Regarding the scores of inflammation, the level of inflammation in the control group was significantly less severe than the other groups (p < 0.05). Evaluation of the fibrosis scores showed that the scores of both groups 2 and 4 were significantly increased (p < 0.05). There were no statistically significant differences between groups 2, 3, and 4 as for fibrosis and inflammation (p > 0.05). Chronic HBO treatment induced mild inflammation of the nasal mucosa. These effects cannot be prevented adequately by administration of nasal steroids and diclofenac.

Coronoid-temporalis pedicled rotation flap for middle skull base reconstruction.

We report on a patient who underwent maxillectomy and subsequent coronoid-temporalis flap reconstruction of the surgical defect to treat a maxillary sinus carcinoma invading the middle skull base. The patient underwent successful reconstruction of the middle skull base and displayed acceptable functional result. Middle skull base defects can be successfully repaired using a local coronoid-temporalis pedicled flap. The coronoid process of the mandible is advantageous as a local flap because it is close to the skull base defects and can easily be dissected from adjacent tissues. The use of a coronoid-temporalis pedicled flap offers excellent results without the need for further extensive surgery.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on chromosome 14q24.3-q34.12. Fine mapping with microsatellite markers defined the critical linkage interval to a 18.7 cM region flanked by markers D14S53 and D14S1015. This region partially overlapped with the DFNB35 locus. Mutation analysis of ESRRB, a candidate gene in the overlapping region, revealed a homozygous 7 bp duplication in exon 8 in all affected individuals. This duplication results in a frame shift and premature stop codon. Sequence analysis of the ESRRB gene in the affected individuals of the original DFNB35 family and in three other DFNB35-linked consanguineous families from Pakistan revealed four missense mutations. ESRRB encodes the estrogen-related receptor beta protein, and one of the substitutions (p.A110V) is located in the DNA-binding domain of ESRRB, whereas the other three are substitutions (p.L320P, p.V342L, and p.L347P) located within the ligand-binding domain. Molecular modeling of this nuclear receptor showed that the missense mutations are likely to affect the structure and stability of these domains. RNA in situ hybridization in mice revealed that Esrrb is expressed during inner-ear development, whereas immunohistochemical analysis showed that ESRRB is present postnatally in the cochlea. Our data indicate that ESRRB is essential for inner-ear development and function. To our knowledge, this is the first report of pathogenic mutations of an estrogen-related receptor gene.

Office hysteroscopic evaluation of endometrium: can we hit the target?

OBJECTIVES: The objective was to determine the value of office hysteroscopy in the diagnosis of endometrial hyperplasia by comparing the patients who had hysteroscopic diagnosis of hyperplasia with the results of histopathologic examinations, and to try to describe the visual criteria. MATERIAL AND METHODS: Two hundred and sixteen premenopausal and 114 postmenopausal patients who were admitted to the endoscopic surgery department between January 2000 and March 2001 were enrolled. Visual diagnoses of endometrial hyperplasia with office hysteroscopy were compared with the histopathological results of the endometrial specimen. RESULTS: Pathology confirmed 50 of the 70 hysteroscopically-diagnosed hyperplasia patients. The positive predictive value of office hysteroscopy was 71.4% and the negative predictive value was 95.4% in the diagnosis of endometrial hyperplasia. CONCLUSION: The accuracy of hysteroscopic evaluation of the uterine cavity is extremely encouraging. Office hysteroscopy, which has a high diagnostic reliability and minimal discomfort, appears to be an ideal method of diagnosis and follow-up of patients with endometrial hyperplasia.

The office hysteroscopic evaluation of postmenopausal patients.

OBJECTIVE: The objective was to characterize postmenopausal women with endometrial polyps and to evaluate their significance. METHODS: The study population included all consecutive postmenopausal patients with a diagnosis of endometrial polyps. Demographic, medical and gynecological data were assessed with regard to the endometrial histologic findings. RESULTS: Of the 181 eligible patients, 34 had endometrial hyperplasia (4 cases of them had endometrial carcinoma). The 144 patients using hormone replacement therapy had significantly higher rate of endometrial hyperplasia than non-hormone users (p<0.006). No differences were observed among the endometrial histological categories for any of the presenting symptoms and signs, ultrasonographic findings, or medical histories. CONCLUSION: Postmenopausal endometrial polyps is a common, mostly benign entity. However, the relatively high rate of concomitant endometrial hyperplasia, especially in patients receiving hormone replacement therapy, dictates a thorough histological evaluation in all cases.