Handling foreign body obstruction is one of the most important task for an otorhinolaryngologist. The practice of removing foreign bodies is one of the oldest in medicine. Each type of foreign body obstruction has its own causative event. Young mothers are well aware of the great risk that choking poses to their children, hence when a child puts a stone in his or her mouth, the mother panics, and shouts. Often, the surprised child then aspirates the foreign body. All medical facilities should not only build responsible teams with the highest level of training and experience related to foreign body obstruction, but also should spread awareness about foreign bodies.

Reasons for the late diagnosis of foreign body obstruction include the following:

1) When the foreign body is responsible:

X-rays pass through the foreign body itself

2) When the patient is responsible:

Lack of awareness of having swallowed a foreign body

3) When the examining physician is responsible:

The physician examines the patient after forming an erroneous preconceived notion, such as assuming another disease as the causative agent.

Postlingual late-onset progressive sensorineural hearing loss can be congenital or hereditary. Clinical application of next-generation sequencing (NGS) has enabled identification of the genes responsible for this disorder, which had hitherto proved impossible. TMPRSS3 is one of such genes.

There are two types of TMPRSS3 mutations: DFNB8, associated with moderate post lingual hearing loss, and DFNB10, associated with congenital hearing loss. We were able to identify a mutation of the TMPRSS3 gene, which was proven to be homozygous by NGS, in a patient with progressive sensorineural hearing loss. This patient is the first reported case of progressive mid- to low-frequency sensorineural hearing loss associated with mutation of the TMPRSS3 gene.

An 8-year-old girl was referred to our clinic for bilateral sensorineural hearing loss with a valley-type pattern at around 1 kHz, despite the absence of any detected abnormalities during medical checkups in infancy and childhood. The low-tone hearing loss worsened in the left ear at age 10, and progressed to mid- to low-frequency hearing loss in both ears at the age of 23 years. She was assessed as mutation negative (GJB2, SLC26A4, and Mt1555A>G) by direct sequencing. However, subsequent analysis of NGS data revealed a homozygous mutation of the TMPRSS3 gene, and it was found that her parents were carriers.

Most patients with hearing loss due to TMPRSS3 gene mutation exhibit progressive high-tone hearing loss and then gradually develop steep high-tone sensorineural hearing loss. However, this patient experienced hearing loss with a valley-type pattern followed by low-tone hearing loss, which has not been reported previously. It is considered that genetic testing using NGS is useful for definitive diagnosis of sensorineural hearing loss of unknown etiology detected during adulthood in patients with progressive sensorineural hearing loss, as in the present patient.

We report the case of a 53-year-old female patient who underwent electric acoustic stimulation (EAS), which was followed by late-onset deterioration of residual hearing in the operated ear. She visited our hospital with a history of progressive bilateral hearing loss since she was in her thirties. A pure-tone audiogram showed bilateral high-frequency hearing loss, and the monosyllable test using a hearing aid showed values of 40% in the right ear and 50% in the left ear. She underwent cochlear implantation in her left ear with a round window approach using the MED-EL FLEX EAS electrode. Residual hearing on the operated side was preserved until 2 years after the EAS operation. However, she began to experience hearing deterioration from 2 years 4 months after the operation. Systemic steroid treatment proved ineffective. The stimulation procedure was changed from EAS to electric stimulation (ES) alone, because acoustic stimulation (AS) had already proved ineffective. A few months later, the patient recovered her speech discrimination ability to the same level as that during the EAS. We consider that the hearing deterioration resulted from two factors; late-onset extrinsic damage of the cochlea due to surgery or as part of the natural intrinsic course of sensorineural hearing loss. The long-term outcome of EAS is still unclear. Meticulous observation of the hearing ability by a speech therapist as well as neuro-otologist is needed for EAS patients.

Acute sensorineural hearing loss after exposure to loud noise was observed in 15 patients who visited our clinic between 2011 and 2013. The patients included a larger proportion of men than women, and the age distribution was in the 40 to 50-years range. The chief complaint of most patients was hearing loss accompanied by tinnitus. According to audiometry, the hearing type was the flat type was in the majority of patients. Patients with acute acoustic trauma showed a higher recovery rate than those with acute acoustic hearing loss. Delayed recovery due to repetitive exposure to a sound load causes worsened acoustic susceptibility, accounting for the prognostic difference between acute acoustic trauma and acute acoustic hearing loss. Because it is difficult to determine whether acute hearing loss is reversible or irreversible prior to treatment, it is important to start treatment immediately after injury.

Myringoplasty is one of the basic procedures in otologic surgery, and is widely performed to repair tympanic membrane perforations. We studied the treatment outcomes of myringoplasty at our hospital.

A retrospective chart review was conducted for 61 patients (30 males and 31 females, average age, 48.8 years (range, 5–87 years); 69 ears) who had undergone myringoplasty from April 2009 to March 2014. The perforation was caused by chronic otitis media in 56 ears, trauma in 8 ears, and iatrogenic factors in 5 ears. The perforation size was grade I in 38 ears, grade II in 25 ears, grade III in 5 ears, and grade IV in 1 ear. The graft material was subcutaneous tissue in 58 ears, temporal fascia in 10 ears, and tragal cartilage in 1 ear. The operative procedure was simple underlay myringoplasty in 61 ears, modified underlay myringoplasty in 3 ears, and inlay myringoplasty in 5 ears. The postoperative follow-up period ranged from 6 to 59 months, with an average of 21.8 months.

Overall, the perforation recurred in 12 ears, and the success rate of perforation closure was 82.6%. The cause of recurrent perforation was unfitting grafts in 3 ears, bacterial infection in 5 ears, and local ischemia in 4 ears. The overall success rate in terms of hearing improvement was 95.7%, according to the criteria proposed by the Otological Society of Japan (postoperative hearing level ≤30 dB, hearing gain ≥15 dB, and/or postoperative air-bone gap ≤15 dB). Of the 61 ears in which simple underlay myringoplasty had been performed, the success rates of perforation closure and hearing improvement were 83.6% (10 ears developed recurrent perforation) and 95.1%, respectively.

We need to address effective measures for prevention and salvage of recurrent perforation in order to improve the success rate of perforation closure.

Isolated sphenoid sinus disease (ISSD) is rare and difficult to diagnose. CT and MRI are recommended as useful aids for the diagnosis. Endoscopic examination typically provides non-specific findings and does not contribute to a direct diagnosis of ISSD. This study, conducted using a retrospective case series, was aimed at investigating the usefulness of diagnostic nasal endoscopy (DNE) for ISSD. Twenty-nine patients with ISSD were included and subjected to CT and DNE. DNE was performed using a flexible endoscope with a diameter of 2.2 mm after pre-treating the sphenoethmoidal recess (SER). The study population included 15 patients with fungal sinusitis or sinusitis caseosa, 5 patients with mucus retention cysts, 2 patients with non-specific inflammatory sinusitis, 3 patients who showed spontaneous resolution, and 4 patients with benign or malignant neoplasms. The DNE findings were positive in 21 patients. Endoscopic examination of the SER revealed positive findings in 7 patients (21%), and direct evaluation of the inside of the sphenoid sinus could be performed in 16 patients (55%). Among these patients, the pathology was based on the gross confirmation of lesions. Although the positive endoscopic finding rate was 21% when the observation range was limited to the SER, which is consistent with previous findings, the total positive finding rate reached 76% with the reported endoscopic method. We demonstrated that DNE has the ability to provide beneficial information, in contrast to previously described methods, and is useful for a prompt and direct diagnosis of ISSD.

Because of difficulties in diagnosis of disorders of the sphenoid sinus posed by the isolated location of the sinus and non-specific initial symptoms, sphenoid sinus has been called the neglected sinus. Nevertheless, imaging techniques such as computed tomography (CT) and magnetic resonance imaging (MRI) or nasal endoscopy have led to considerable improvements in the diagnosis.

Herein, we report the case of an 85-year-old man who presented a history of headache and vomiting. CT revealed opacification of the sphenoid sinus with osteolysis of the clivus, but no abnormalities in any of the other paranasal sinuses. Immediately after endoscopic sphenoidotomy was performed, the patient’s headache resolved. At first, the mass was suspected as a metastasis from an abdominal malignant tumor, however, eventually, a diagnosis of chronic sphenoiditis was made.

Although isolated sphenoid sinus disease can be identified easily by CT or MRI, and transnasal endoscopic surgery can be performed safely, difficulties in diagnosis and cure without permanent sequelae remain, therefore, careful follow up is necessary.

Branchial cysts are a common cause of cystic neck masses in adults. However, their occurrence in the parapharyngeal space is rare. We report the case of a 36-year-old man with a parapharyngeal branchial cyst in the lateral pharyngeal wall. He presented with the complaint of pharynx discomfort and snoring. On laryngeal endoscopic examination, a submucosal mass was suspected in the right lateral pharyngeal wall. Computed tomography revealed a well-marginated cystic mass in the right lateral parapharyngeal space. The cystic mass was completely removed surgically via the transoral approach. Histopathological examination revealed the diagnosis of branchial cyst. At a follow-up conducted 1 year after the surgery, the patient was showed no signs of recurrence, and improvement of the snoring.

Second branchial cysts were divided into four subtypes by Bailey. Our case had a type IV cyst, which is extremely rare. The transoral approach for resection using two types of laryngoscopes (Weerda type and Sato type) can provide good exposure, allowing complete resection without cervical scarring.

We report four cases of small cell carcinoma of the sinonasal cavity.

The primary sites were the ethmoidal sinonasal cavity in two cases and maxillary sinonasal cavity in two cases. In three of the four cases, chemoradiotherapy was planned, because the cancers were locally advanced, with the tumor size and extent exceeding T3. One of these patients died of an adverse event during the chemoradiotherapy with cisplatin (CDDP) and irinotecan (CPT-11). In another, metastases in the liver and ileum were detected after the chemoradiotherapy with CDDP and etoposide (VP-16), and the patient died 22 months after her initial visit. In the third case, no evidence of recurrence or metastasis was detected until 20 months after completion of the chemoradiotherapy with the carboplatin (CBDCA) and VP-16.

In the one case with multiple distant metastases at presentation, six courses of chemotherapy with CBDCA and VP-16 were administered, however, the patient died six months after her initial visit.

Because small cell carcinoma of the sinonasal cavity is very rare, no standard treatment has been established yet. In most previously reported cases, chemoradiotherapy was selected because operation was not possible due to the tumor invasion to surrounding organs and the sensitivity to radiation was good. Patients reported here who completed chemoradiotherapy showed good local control. However, the prognosis of small cell carcinoma of the sinonasal cavity is poor and strict surveillance for recurrence and metastasis is needed after treatment.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformations, hearing loss, and renal malformations. Subjects with BOR syndrome who do not have renal malformations are said to have branchio-oto syndrome (BOS). Here, we present a case of BOS caused by an EYA1 mutation.

A five-month-old boy was brought to our hospital for an audiologic assessment. He had hypoplasia of the right pinna and preauricular pits in the crus of the helix on both sides. Conditioned orientation response audiometry and auditory steady state response examination revealed bilateral moderate hearing loss. High-resolution computed tomography suggested the absence of the long process of the incus, cochlear hypoplasia (incomplete partition, type-II), and hypoplasia of the lateral semicircular canals of both ears. His grandfather also had preauricular pits in the crus of the helix on both sides and bilateral severe-to-profound mixed hearing loss. Physical examination revealed branchial fistulae. His mother had surgical scars on the crus of the helix of both sides and in the neck due to the excision of preauricular and branchial fistulae. Pure-tone audiometry revealed bilateral moderate sensorineural hearing loss. On the basis of these findings, we suspected that the family suffered from BOS. Genetic analysis identified a heterozygous nonsense mutation, p.Arg264X, in the EYA1 gene, mutation of which is known to cause BOR syndrome and BOS. The results showed that the boy had BOS caused by an EYA1 mutation.

BOR syndrome and BOS are inherited in an autosomal dominant manner. Clinicians should inform the family members that the offspring of an affected subject are at a 50% risk of inheriting the pathogenic variant. Extreme variability is observed in the presence, severity, and type of branchial anomalies and otologic/renal abnormalities, even among individuals of the same family. Otologists and audiologists should be familiar with BOR syndrome and BOS, since the initial consultation in most cases of these hereditary disorders may be with otologists/audiologists.