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.

Clinical features and treatment outcomes of otitis media with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (OMAAV): A retrospective analysis of 235 patients from a nationwide survey in Japan.

Objective: We aimed to analyze clinical features and treatment outcomes of otitis media caused by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), i.e. otitis media with AAV (OMAAV).

[Assessment of Cachexia in Head and Neck Cancer Patients Based on a Modified Glasgow Prognostic Score].

We retrospectively analyzed 54 patients who died of head and neck squamous cell caricinoma regarding the process and duration of cachexia using the modified Glasgow Prognostic Score (mGPS). The patients were classified as having cachexia when the serum albumin level was less than 3.5 mg/dL and the C-reactive protein (CRP) level was more than 0.

Chemoselection combined with alternating chemoradiotherapy or surgery for hypopharyngeal cancer.

Objectives/hypothesis: In order to make possible organ preservation, since 2007 our hospital has performed induction chemotherapy (ICT) with cisplatin and 5-fluorouracil (PF) for hypopharyngeal cancer as chemoselection, followed by alternating chemoradiotherapy (ACRT) with docetaxel, cisplatin, and 5-fluorouracil in (TPF) good responders and curative surgery was used in poor responders.

Methods: Twenty-six patients with stage III to stage IVB hypopharyngeal cancer received ICT. Eleven of the patients were classified as poor responders and received curative surgery.

Presence of cytomegalovirus in the perilymphatic fluid of patients with profound sensorineural hearing loss caused by congenital cytomegalovirus infection.

Conclusion: Not all patients diagnosed with congenital infection using umbilical cord assay were found to be positive for CMV-DNA by perilymphatic fluid assay. In addition, a CMV-DNA-positive result was observed in one patient who had not been diagnosed with congenital infection. Sampling of perilymphatic fluid from a large population of patients with congenital SNHL caused by congenital CMV infection or of unknown etiology is required to determine the prevalence of CMV-related profound HL.

[A case of hereditary angioedema defined by gene analysis].

Hereditary angioedema (HAE) is a disease that is characterized by localized edema that can occur anywhere in the body, and is caused by a mutation of the C1-inhibitor gene. In the oto-rhino-laryngological region, it occurs in the mouth, pharynx, larynx, and on the face. Occasionally, laryngopharyngeal edema can in particular sometimes be fatal.

Stiffness of salivary gland and tumor measured by new ultrasonic techniques: Virtual touch quantification and IQ.

Objective: To evaluate normal salivary gland stiffness and compare the diagnostic performance of virtual touch quantification (VTQ) and virtual touch imaging quantification (VTIQ) for head and neck tumor.

Methods: A total of 92 measurements were examined, comprising 77 normal salivary glands, 11 benign tumors and four malignant tumors. Examinations were made to evaluate normal salivary gland stiffness and compare the diagnostic performances of new ultrasonic techniques regarding head and neck tumor.

Usefulness of sentinel node navigation surgery in the management of early tongue cancer.

Objective: To determine the validity of sentinel node navigation surgery (SNNS) in early stage tongue cancer, the occurrence rate of postoperative cervical metastasis (POCM) after lead plate technique (LPT) introduction and survival rates in patients who underwent SNNS were analyzed.

Methods: SNNS was performed in 29 patients (stage I: 14, stage II: 15) from 2000 to 2007. Tc-labeled phytate was prepared as a radiotracer a day before SNNS.

Outcome of cochlear implantation in children with congenital cytomegalovirus infection or GJB2 mutation.

Conclusions: Outcomes following cochlear implantation in children with congenital cytomegalovirus (CMV) infection were almost equivalent to those of children with GJB2 mutation-related sensorineural hearing loss (SNHL). Although our patients with developmental disorder showed poor auditory performance and speech and language skills after cochlear implantation, SNHL with developmental disorder should not be a contraindication for the procedure.

Objective: Congenital CMV infection accounts for approximately 20% of all cases of neonatal hearing loss, while the GJB2 mutation accounts for 30-50% of all cases of profound nonsyndromic hearing loss.

Sentinel node mapping for node positive oral cancer: potential to predict multiple metastasis.

Objective: The objective of this study is to evaluate lymph node mapping for clinically positive neck metastasis using a sentinel node navigation technique.

Methods: 99mTc-labeled rhenium sulfide was injected as a radiotracer in 10 patients with squamous cell carcinoma of the tongue. After surgery, lymph nodes were classified into two categories according to the radioactive accumulation: nodes with radioactivity and nodes without radioactivity.

[Pharmacodynamics of tongue tissue and plasma after intraarterial infusion of cis-diammine glycolato platinum (CDGP)].

We measured total Pt concentration in serum and tongue tissue in CDGP intraarterial infusion with male rats. Subjects were 40 male rats sorted into intraarterial infusion (n=20), intravenous infusion (n=20), and CDGP infusion groups at a dose of 10 mg/kg. Total Pt concentration was measured every 30 minutes for 120 minutes after CDGP infusion was completed.