Contralateral Transmaxillary Approach for a 13-Year-Old Boy with a Petrous Apex Cholesterol Granuloma: A Case Report.

Introduction: Surgical extirpation of a cholesterol granuloma in the petrous apex, located dorsal to the petrous part of the internal carotid artery (ICA), is challenging. Herein, we report a pediatric case of a cholesterol granuloma of the petrous apex treated using the endoscopic contralateral transmaxillary (CTM) approach.

Case Presentation: A 13-year-old boy presented with a left-sided headache, slight hypoesthesia in the left V1 area, and severe neuralgia of the left auriculotemporal nerve.

Co-occurrence of Down Syndrome and Multiple Sclerosis.

Object: Down syndrome (DS) is often associated with autoimmune diseases; however, its association with multiple sclerosis (MS) has rarely been reported. In a previous report, the coincidence of DS and MS showed a negative association. Here, we searched for the coincidence of DS and MS, and attempted to resolve this negative association, focusing on the gene dosage effect, by utilizing available reports.

Clinicopathological Significance of Extranodal Extension in Hypopharyngeal and Laryngeal Squamous Cell Carcinoma.

Background: The AJCC cutoff value of 2 mm for the extranodal extension (ENE) distance was determined from an analysis of patients with or without adjuvant therapy. The purpose of this study was to find out the ENE distance that reflects prognosis only in patients with head and neck squamous cell carcinoma (SCC) who received adjuvant therapy.

Methods: The ENE distance was defined for 109 patients who underwent surgery for SCC of larynx or hypopharynx as a primary tumor.

Novel Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.

Background/objectives: The gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for -associated hearing loss remain unclear.

The Heterozygous p.A684V Variant in the Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

Background/objectives: A heterozygous mutation in the gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown.

Long duration forecasting and its performance capability for seasonal variation modelling of residual chlorine concentrations: A comparative evaluation of two small-scale water distribution systems in Japan.

Chlorine dosing control is a critical task for health security, complying with drinking water quality standards while achieving customer satisfaction. In Japan, this became more difficult due to decreasing number of technical personnel as a result of declining population and huge retirement of veterans. As experienced-based dosing control still exists and is considered inefficient due to risks of inaccurate dosing and need of experienced manpower, streamlining of operations is needed.

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

The 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 variants have been reported to cause SNHL. However, the detailed clinical features of -associated hearing loss (HL) remain unclear.

Risk factors of secondary cancer in laryngeal, oropharyngeal, or hypopharyngeal cancer after definitive therapy.

Background: Our previous research showed that a high rate of secondary carcinogenesis is observed during follow-up after transoral surgery in patients with early-stage laryngeal, oropharyngeal, and hypopharyngeal cancers. We speculate that the contributing factors are alcohol drinking, smoking, and aging; however, we could not provide clear evidence. In this study, we aimed to identify the risk factors for secondary carcinogenesis in patients with these cancers, particularly factors associated with drinking and/or smoking.

Promotes Cell Migration and Colonization in Hypopharyngeal Squamous Cell Carcinoma.

Background/aim: This study aimed to identify key molecules associated with the survival of patients with hypopharyngeal squamous cell carcinoma (HpSCC) by combining in silico and in vitro analyses.

Materials And Methods: Differentially expressed genes (DEGs) were screened using the Gene Expression Omnibus database. For DEGs, we performed functional enrichment and protein-protein interaction network analyses to identify potential biological functions and hub genes.

Biphenotypic Sinonasal Sarcoma: A Genetically Confirmed Case Showing Bone Invasion Accompanying a Non-neoplastic Respiratory Epithelium.

Biphenotypic sinonasal sarcoma is a newly established tumor entity that is associated with distinct clinicopathological findings. Biphenotypic sinonasal sarcoma is a rare, low-grade spindle cell sarcoma that arises in middle-aged females, exclusively in the sinonasal tract. A fusion gene involving is detected in most biphenotypic sinonasal sarcomas, which aids in its diagnosis.

A risk factor for newly diagnosed secondary cancer in patients with early-stage laryngeal, oropharyngeal, or hypopharyngeal cancer: sub-analysis of a prospective observation study.

Background: We previously identified hypopharyngeal cancer as an independent risk factor for the incidence of newly diagnosed secondary cancers after the treatment of early-stage laryngeal, oropharyngeal, and hypopharyngeal cancers. We subsequently used a different patient cohort to validate the usefulness of this factor during the follow-up period in these patients.

Methods: Patients who underwent transoral surgery (TOS) as a definitive treatment between April 1, 2016, and September 30, 2020, were included.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation.

Validation of the risk factors for primary control of early T-stage laryngeal, oropharyngeal, and hypopharyngeal squamous cell carcinoma by transoral surgery: a prospective observational study.

Background: We had previously identified the following risk factors for insufficient control of early T-stage head and neck cancer by transoral surgery (TOS): (1) tumor thickness > 7 mm on enhanced computed tomography (CT), and (2) poor differentiation in pathological examination. We subsequently used a different patient cohort to validate the usefulness of these factors in determining the need for adaptation of TOS.

Study Setting: A prospective observational study METHODS: Patients who received TOS as a definitive treatment between April 1, 2016 and September 30, 2020 were included.

Establishment of PDX-derived salivary adenoid cystic carcinoma cell lines using organoid culture method.

To generate a reliable preclinical model system exhibiting the molecular features of salivary adenoid cystic carcinoma (ACC) whose biology is still unclear due to the paucity of stable cell cultures. To develop new in vitro and in vivo models of ACC, the techniques of organoid culture and patient-derived tumor xenograft (PDX), which have attracted attention in other malignancies in recent years, were applied. Tumor specimens from surgically resected salivary ACC were proceeded for the preparation of PDX and organoid culture.

The incidence of newly diagnosed secondary cancer; sub-analysis the prospective study of the second-look procedure for transoral surgery in patients with T1 and T2 head and neck cancer.

Background: Our prospective study of patients with early T-stage head and neck cancer indicated a high incidence of newly diagnosed secondary malignancies during the follow-up period. We aimed to determine the incidence rate and risk factors of secondary malignancies in early-stage head and neck cancer patients.

Methods: We sub-analyzed the patient data of a previous study focusing on secondary cancer incidence.

Prevalence and clinical features of hearing loss caused by EYA4 variants.

Variants in the EYA4 gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, DFNA10. To date, 30 variants have been shown to be responsible for hearing loss in a diverse set of nationalities. To better understand the clinical characteristics and prevalence of DFNA10, we performed genetic screening for EYA4 mutations in a large cohort of Japanese hearing loss patients.

Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.

Complete or partial tetrasomy 21 has been reported only in rare cases. We report a Japanese female patient with tetrasomy 21 due to an extra chromosome derived from chromosome 21 (Chr21). The patient had severe psychomotor retardation without Down syndrome (DS) phenotype; she showed short stature, microcephaly, round face, cleft lip and palate, and other dysmorphic features.

Sphenoid sinus development in patients with acquired middle ear cholesteatoma.

Objective: In this study, we examine the relationship between developmental insufficiency of mastoid air cells and abnormal morphology of the paranasal sinuses in patients with chronic otitis media (COM) and acquired middle ear cholesteatoma (AMEC) using precise image assessment, in order to evaluate whether the anatomical features of paranasal sinuses has any impact on the pathogenesis in COM and AMEC.

Methods: A total of 127 patients, including 45 COM patients and 82 AMEC patients, were enrolled for this study. The existence of nasal septal deviation, the existence of paranasal sinus opacification, the modified Lund-Mackay score, the diameters of the paranasal sinuses, the Vidic classification, mastoid development, and cranial size were assessed by CT examination.

A prospective clinical trial of the second-look procedure for transoral surgery in patients with T1 and T2 laryngeal, oropharyngeal, and hypopharyngeal cancer.

Background: Transoral surgery (TOS) has been widely applied for early T-stage head and neck cancer (HNC). The resection is performed with a minimum safety margin for function preservation under a limited surgical field; therefore, it is difficult to have a strong conviction about the complete resection. This study aims to evaluate the completeness of the initial TOS procedure; possibility of primary control by TOS alone; and predictive factors in patients with early T-stage laryngeal, oropharyngeal, and hypopharyngeal cancer.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population.

Preoperative frailty is associated with progression of postoperative cardiac rehabilitation in patients undergoing cardiovascular surgery.

Objective: Preoperative frailty affects the progression of cardiac rehabilitation (CR) after cardiovascular surgery. Different frailty assessment measures are available. However, it remains unclear which tool most likely predicts the progress of CR.

Postoperative Bio-Chemoradiotherapy Using Cetuximab and Docetaxel in Patients With Cis-Platinum-Intolerant Core High-Risk Head and Neck Cancer: Protocol of a Phase 2 Nonrandomized Clinical Trial.

Background: We confirmed the safety of postoperative bio-chemoradiotherapy using cetuximab and docetaxel in a small number of patients with cis-platinum-intolerant core high-risk head and neck cancer.

Objective: To assess treatment efficacy, we planned a phase 2 study of postoperative bio-chemoradiotherapy for patients with cis-platinum-intolerant core high-risk head and neck cancer and will compare the results to those of previously collected radiotherapy data.

Methods: Patients who underwent definitive surgery for oral cavity, laryngeal, oropharyngeal, or hypopharyngeal advanced cancer, whose postoperative pathological results indicated core high risk for recurrence (eg, positive margin in the primary site or extranodal extension) and who were cis-platinum-intolerant, will undergo postoperative bio-chemoradiotherapy.

Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome.

The average lifespan of individuals with Down syndrome has approximately doubled over the past three decades to 55-60 years. To reveal the pathogenic process of Alzheimer-type dementia in individuals with Down syndrome, we immunohistochemically examined senile plaque formation in the cerebral cortex in the autopsy brain and compared findings with our previous studies. We described a 52-year-old female with Down syndrome who developed progressively more frequent myoclonus following cognitive decline and died at the age of 59 years.