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    Bladder Cancer Metastases to the Temporal Bone
    (Lippincott Williams & Wilkins, 2011) Yildirim-Baylan, Muzeyyen; Erdogmus, Nagehan; Cureoglu, Sebahattin; Paparella, Michael M.
    Bladder cancer is the second most commonly occurring cancer of the genitourinary tract. Transitional carcinoma of the bladder, the most prevalent type, is very aggressive and can metastasize early (1). The most frequent sites of bladder cancer metastases are the lymph nodes, liver, lung, bone, and adrenal gland. Bladder cancer is rarely reported to metastasize to the temporal bone (1% of cases) (2). The most common primary tumors that metastasize to the temporal bone are breast (10%), lung (6%), and prostate (5%). In this study, a case of metastatic tumor of the temporal bone from transitional cell carcinoma of the bladder will be presented.
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    An Evaluation of Preoperative Computed Tomography on Patients with Chronic Otitis Media
    (Springer, 2012) Yildirim-Baylan, Muzeyyen; Ozmen, Cihan Akgul; Gun, Ramazan; Yorgancilar, Ediz; Akkus, Zeki; Topcu, Ismail
    This study aimed to compare the veracity of computed tomography findings on patients undergoing surgery for chronic otitis media (COM) with the surgical findings, and to determine to what extent the preoperative computerized tomography (CT) findings are useful to the surgeon. A series of 56 patients with COM undergoing preoperative CT scanning followed by surgical exploration of the middle ear and mastoid. Operative notes were recorded and data collected on the nature of soft tissue masses, the status of the ossicles, presence or absence of facial canal dehiscence and semicircular canal (SCC) dehiscence and the presence or absence of dural plate erosion, and sigmoid sinus thrombosis. Fifty-six patients were recruited in the study, 30 males and 26 females. The age range was from 16 to 67 years with a mean of 26.51 +/- A 1.4 years. The preoperative CT scan imaging in cases of cholesteatoma, ossicular chain erosion and SCC dehiscence have good correlation with the intraoperative findings. The specificity of preoperative CT scan in detecting facial canal dehiscence, dural plate erosion and sigmoid sinus thrombosis in patient of COM were weak. Preoperative computed tomography evaluation is fairly useful especially in cases of cholesteatoma. According to the results of this study, CT is of value particularly in the definition of cholesteatoma, and in determining ossicular chain erosion and semicircular canal fistula.
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    Evidence for genotype-phenotype correlation for OTOF mutations
    (Elsevier Ireland Ltd, 2014) Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa
    Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
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    Langerhans' Cell Histiocytosis of the Temporal Bone
    (Lippincott Williams & Wilkins, 2012) Yildirim-Baylan, Muzeyyen; Cureoglu, Sebahattin; Paparella, Michael M.
    [Abstract Not Available]
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    The pathology of silent otitis media: A predecessor to tympanogenic meningitis in infants
    (Elsevier Ireland Ltd, 2014) Yildirim-Baylan, Muzeyyen; Schachern, Patricia; Tsuprun, Vladimir; Shiabata, Dai; Paparella, Michael M.; Cureoglu, Sebahattin
    Objective: To determine the association of bacteria embedded within a fibrous matrix in the middle and inner ear in infants with tympanogenic meningitis. Methods: Thirty-one cases with meningitis from the human temporal bone collection at the University of Minnesota were screened to select those with tympanogenic meningitis. Inclusion criteria for tympanogenic meningitis were acute meningitis with histopathological evidence of chronic otitis media, and no other source of infection. The presence of labyrinthitis and pathologic changes such as granulation tissue, fibrosis, cholesterol granuloma, cholesteatoma, tympanic membrane perforation, tympanosclerosis, and the type of effusion were noted. The extent and location of bacteria embedded in a fibrous matrix were also explored. Results: Seventeen temporal bones, from nine cases that included two females and seven males, ranging in age from five to twenty-three months, met our criteria of tympanogenic meningitis. Eighty two percent of these temporal bones had bacteria within the fibrous matrices (BFM). BFM were located in one anatomical region in one temporal bone and multiple anatomic regions in sixteen temporal bones. The most common locations were the areas near the oval and round windows. They were also commonly seen in the epitympanum, facial recess, and supratubal recess. BFM within the inner ear were observed in the scala tympani and modiolus in the middle and basal turns of the cochleae of nine temporal bones. In one of these temporal bones, BFM were seen in the internal auditory canal. Labyrinthitis was seen in all ears. The tympanic membrane was intact in all cases. BFM were not seen in three temporal bones from two patients. In one case only one side was available for study. Conclusions: Our findings show an association between the presence of BFM in the ear with chronic pathologic changes and tympanogenic meningitis. Potential pathways of bacteria from the middle ear include hematogeous spread and/or direct spread to dura through the tympanic tegmen, and/or to the inner ear through the oval and round windows, and from there to the modiolus and the meninges. Chronic pathologic changes in the middle ear behind an intact tympanic membrane and the lack of ear symptoms may result in potentially serious sequelae and complications in infant age groups. There should be a heightened awareness of this condition. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
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    A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
    (Springer, 2019) Sineni, Claire J.; Yildirim-Baylan, Muzeyyen; Guo, Shengru; Camarena, Vladimir; Wang, Gaofeng; Tokgoz-Yilmaz, Suna; Duman, Duygu
    While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9 in a consanguineous family from Turkey with autosomal recessive nonsyndromic hearing loss. Three affected members of the family had sensorineural hearing loss (SNHL) ranging from moderate to profound in severity. The variant is predicted to cause a frameshift and produce a truncated protein (p.Leu29ArgfsTer4) in this single-exon gene. It is absent in public databases as well as in over 1000 Turkish individuals, and co-segregates with SNHL in the family. Our in vitro studies demonstrate that the mutant protein does not localize to cell membrane as demonstrated for the wild-type protein. Mice-lacking Cldn9 have been shown to develop SNHL. We conclude that CLDN9 is essential for proper audition in humans and its disruption leads to SNHL in humans.