Neurolymphomatosis diagnosed after a recurrence of facial palsy.

Neurolymphomatosis (NL) is a rare complication of non-Hodgkin's lymphoma, characterized by the infiltration of lymphoma cells into the peripheral nerves. A 54-year-old woman initially presented with right facial palsy without any other significant symptoms and was diagnosed with Bell's palsy. Despite initial improvement, her condition recurred, prompting further evaluation. Magnetic resonance imaging (MRI) revealed contrast enhancement from the tympanic segment to the surface of the masseter muscle along the right facial nerve and an adjacent mass lesion. Biopsy of the mass revealed a diagnosis of T-cell/histiocyte-rich large B-cell lymphoma. Chemotherapy resulted in complete resolution of facial palsy. Follow-up MRI confirmed the absence of contrast enhancement along the facial nerve. Facial palsy was considered to be caused by NL. This case was classified as that of primary NL because the facial palsy was the first manifestation of a hematologic malignancy. Recurrent facial palsy, which is atypical in Bell's palsy, led to further evaluation with MRI, which finally resulted in the diagnosis of malignant lymphoma. In cases of recurrent facial palsy, clinicians should consider various diagnoses, including that of NL, and advocate early imaging tests and biopsy, if possible, for accurate diagnosis and improved outcomes.

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.

The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.

Clinical Factors Associated With the Outcomes of Long-Term Middle Ear Ventilation Tube Insertion in Pediatric Patients.

BACKGROUND: Ventilation tube (VT) insertion is the most common treatment for otitis media with effusion (OME). However, OME recurrence and persistent tympanic membrane (TM) perforation after VT removal are encountered in a certain percentage of such children. METHODS: This study was performed to determine the outcomes of children who underwent long-term VT insertion. A total of 326 ears from 192 patients were analyzed. The associations among the patient age, sex, history of OME, history of repeated acute otitis media, placement duration, whether the VT had been removed intentionally or spontaneously, and the outcome (persistent TM perforation or OME recurrence) were analyzed. The outcomes of multiple VT tube insertions were also reviewed. We also analyzed whether or not local or general anesthesia was associated with the early spontaneous extrusion of the VT. RESULT: The OME recurrence and TM perforation rates were 29% (96/326 sides) and 17% (57/326 sides), respectively, for first insertions. In addition, 96 (29%) sides underwent ≥2 insertions. The shorter the duration for which the VT was retained in the middle ear, the more significant the rate of increase in OME recurrence. The OME recurrence was observed more often when VT was spontaneously removed than when intentionally removed. The rate of persistent TM perforation was significantly associated with male sex. Persistent TM perforation was not observed in patients who underwent 4 or 5 insertions. The anesthesia method did not significantly influence the timing of spontaneous extrusion of VT. CONCLUSION: The retention period of VT should be at least 2 years, and VT removal at the age of 7 might be a viable strategy. Multiple VT insertions are recommended for patients with recurrent OME. Ventilation tube under local anesthesia is an effective option for tolerable children.

Hearing Recovery After Ejection of Air in a Case of Traumatic Pneumolabyrinth: Mechanism and Management Options.

OBJECTIVE: To describe a case of traumatic pneumolabyrinth and subsequent hearing recovery after ejection of air with transcanal endoscopic surgical exploration. PATIENTS: A 38-year-old man was struck by his child while cleaning his ear with an ear pick made of bamboo, which penetrated deep into the left ear canal. Severe vertigo with vomiting and left hearing impairment ensued. In addition, high-resolution computed tomography demonstrated an air density within the vestibule. INTERVENTIONS: Exploratory tympanotomy was performed endoscopically a day after the injury and air was ejected from the oval window surgically. MAIN OUTCOME MEASURES: High-resolution computed tomography, audiologic testing. RESULTS: Several hours after surgery, the patient's subjective vestibular symptoms lessened and 7 days after surgery, the patient felt slight dizziness when moving his head and no apparent spontaneous nystagmus was observed with an infrared charge-coupled device camera and was discharged from the hospital. Two years later, there are no subjective vestibular symptoms at all and the pure-tone average of his left ear improved to 16.7 dB. CONCLUSION: We presented a case of traumatic pneumolabyrinth and the subsequent hearing recovery after ejection of air following endoscopic exploratory tympanotomy. We propose that initial management for traumatic pneumolabyrinth should be ejection of the air bubble if it is located solely in the vestibule and sparing the cochlea.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. To obtain the audiovestibular configuration of the patients harboring POU4F3 variants, we collected audiograms and vestibular symptoms of the probands and their affected family members. Audiovestibular phenotypes in a total of 24 individuals from the 15 families possessing variants were characterized by progressive HL, with a large variation in the onset age and severity with or without vestibular symptoms observed. Pure-tone audiograms indicated the most prevalent configuration as mid-frequency HL type followed by high-frequency HL type, with asymmetry observed in approximately 20% of affected individuals. Analysis of the relationship between age and pure-tone average suggested that individuals with truncating variants showed earlier onset and slower progression of HL than did those with non-truncating variants. The present study showed that variants in POU4F3 were a common cause of autosomal dominant HL.

Severe acute otitis media caused by mucoid Streptococcus pyogenes in a previously healthy adult.

Streptococcus (S.) pyogenes is well recognized as the most common pathogen causing pharyngotonsillitis in school-age children. In Japan, mucoid Streptococcus pneumoniae is well known as a causative agent of severe acute otitis media (AOM); however, mucoid S. pyogenes has rarely been reported. To the best of our knowledge, this is the first report of an AOM patient caused by mucoid S. pyogenes in Japan. A 36-year-old previously healthy female was referred to our hospital with suspicion of cerebrospinal otorrhea due to increasing otalgia accompanied by headache following myringotomy. Bacterial cultures of middle ear secretions were performed, and mucoid-form colonies surrounded by zones of complete ß-hemolysis were produced on sheep's blood agar. Antigen-agglutination test results were positive for S. pyogenes, and thus the patient received treatment with panipenem-betamipron 2.0 g/day for 10 days, which resolved nearly all symptoms. The bacteriological features of this strain were then investigated. The M-protein genotype encoded by the emm gene, the major virulence factor of S. pyogenes, was determined to be emm75. Generally, S. pyogenes forms colonies having non-mucoid matt appearances based on ß-hemolysis of sheep's blood agar. The mucoid phenotype results from abundant production of hyaluronic acid capsular polysaccharide, a key virulence determinant. emm75 is common in noninvasive, but less common in invasive disease. In conclusion, mucoid S. pyogenes can cause severe infection even in previously healthy persons. Emergence of mucoid S. pyogenes and drug resistance trends should be monitored in the future.

Electrophysiological mapping of the cochlear nucleus with multi-channel bipolar surface microelectrodes.

Auditory potentials in response to electrical stimulation of the cochlear nucleus were recorded in guinea pigs using two types of multi-channel surface microelectrodes with inter-electrode distance of 100 and 200 µm. Unequivocal waves of electrically evoked auditory brainstem responses (EABRs), which increased in amplitude with increasing stimulation current, were consistently observed. Electrophysiological mapping with these multichannel electrodes could clearly distinguish stimulation points showing positive EABRs from points showing undetectable EABRs, indicating that multi-channel surface microelectrodes have great potential in clinical use to determine the optimal location for the positioning of auditory brainstem implants, and may allow more precise discrimination of pitch. Further study to clarify the optimal inter-electrode distance for humans is necessary before application to physiological mapping in the human cochlear nucleus.

New treatment for invasive fungal sinusitis: three cases of chronic invasive fungal sinusitis treated with surgery and voriconazole.

Invasive fungal sinusitis is a relatively rare disease and can be divided into acute fulminant, chronic, and granulomatous invasive fungal sinusitis. The conventional treatment is radical surgery combined with systemic amphotericin B administration, but the poor prognosis and unestablished treatment options require a better therapeutic strategy. We report three cases of chronic invasive fungal sinusitis successfully treated with a combination of surgery and voriconazole, a new antifungal agent, with good responses in all patients. Voriconazole administration could form the basis for a new standard treatment for invasive fungal sinusitis.

Ototoxic interaction of kanamycin and 3-nitropropionic acid.

CONCLUSION: Mitochondrial dysfunction in the cochlea potentiates the ototoxicity of aminoglycosides. OBJECTIVE: This study examined whether mitochondrial dysfunction in the cochlea affects the ototoxicity of aminoglycosides. MATERIALS AND METHODS: Nineteen guinea pigs were treated with the mitochondrial toxin 3-nitropropionic acid (3-NP), kanamycin, both agents, or normal saline as control. After 14 days, hair cell loss and auditory brainstem response (ABR) were assessed. RESULTS: The administration of 400 mg/kg of kanamycin caused neither hair cell loss nor ABR threshold shift. Administration of 3-NP caused mild ABR threshold shift without significant hair cell loss. Administration of 3-NP and kanamycin caused ABR threshold shift and significant hair cell loss.

[Management of cervical tuberculous lymphadenitis: evaluation of 6 cases].

Unlike other advanced nations, secondary spread of tuberculosis still occurs in Japan. Cervical tuberculous lymphadenitis is still an important disease of the neck, and between 2001 to 2005, we treated 6 patients with cervical tuberculous lymphadenitis. All 6 patients were females, and their ages ranged from 28 to 77 years old (average: 62 years). One patient had received antitubercular chemotherapy for pulmonary tuberculosis 40 years earlier. Two patients had a family history of pulmonary tuberculosis. One patient was an immigrant from Thailand. Three patients underwent open biopsy of the cervical lymph node, and were diagnosed with tuberculosis histologically. The remaining three patients had an abscess, and fine-needle aspiration (FNA) biopsy was performed. The diagnosis of tuberculosis was made by detection of acid-fast bacilli, MTD (Mycobacterium tuberculosis direct test), PCR (polymerase chain reaction), and culture. All six patients were treated with antitubercular chemotherapy for 6-9 months and recovered. MTD and PCR of the FNA sample seemed to enable early treatment. Attention needs to be paid to countries around Japan where tuberculosis is spreading. We suggest that treatment should be performed while at the same time making an effort to grasp the trend of spread in other countries as well as Japan.

Type 2 diabetes complicated by multiple pyomyositis.

A 40-year-old man was hospitalized due to fever, muscular swelling and pain. He had poorly controlled diabetes with many dental caries and repeated periodontitis. CT revealed multiple intramuscular abscesses; administration of antibiotics and pus drainage were performed. Intraoral infection was suspected as the route of infection of pyomyositis, and a total of six teeth was extracted. In the clinical treatment of diabetic patients, it is important to instruct patients to routinely check for the presence of traumatic injuries of the lower extremities, and to have routine check-ups and dental care to check for dental caries or periodontitis.