[What is the role of otolaryngologists in deglutition practice?--A survey for medical practitioners in different fields].

The advent of a super aging society is causing a rapid increase in the number of patients with dysphagia, and, in response, the use of percutaneous endoscopic gastrostomy (PEG) has become markedly widespread over the past decade. As the result of its rapid spread, PEG is controversial both ethically and economically, and, in the revision of medical treatment fees for 2014, the preoperative deglutition usability test of all cases is fixed for the full amount request requirements of gastrostomy. Thus, the demands on dysphagia practice are rising. Therefore, we conducted a survey of the dysphagia practice of otolaryngologists, doctors, and speech therapists in charge of dysphagia practice in hospitals, home medical care clinics, and dental offices in Itabashi-ku, Tokyo, and we considered the role of otolaryngologists in dysphagia practice. According to the survey, the roles that are expected of otolaryngologists in dysphagia practice are the evaluation of swallowing function using videoendoscopic examination of swallowing in over 50% of home medical care clinics and dental offices. On the other hand, surgical treatment is expected of otolaryngologists in over half in the hospital group. A total of 64% of the home care clinic group and 47% of the dental group did not coordinate with otolaryngologists in dysphagia practice because there are no otolaryngologists to consult. The home care clinic group indicated a demand of the swallowing function test in short-term admission or home practice. In the survey of departments of otolaryngology in hospitals or otolaryngology clinics, 40% of these institutions evaluate deglutition, while the other institutions did not perform evaluations because of the lack of human resources or deficient facilities. The otolaryngologist specializes in the laryngopharynx where aspiration occurs, and not only diagnoses local organic disease, but also directs the patient to a doctor in an appropriate department on the basis of understanding the patient's background diseases. We conclude that organized participation and leadership in this region are urgent tasks of otolaryngologist.

Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Hearing loss (HL) is the most common sensory disorder in humans. Many patients with mitochondrial diseases have sensorineural HL (SNHL). The HL of these patients manifests as a consequence of either syndromic or nonsyndromic mitochondrial diseases. Furthermore, the phenotypes vary among patients even if they are carrying the same mutation. Therefore, these features make it necessary to analyze every presumed mutation in patients with hereditary HL, but the extensive analysis of various mutations is laborious. We analyzed 373 patients with suspected hereditary HL by using an extended suspension-array screening system for major mitochondrial DNA (mtDNA) mutations, which can detect 32 other mtDNA mutations in addition to the previously analyzed 29 mutations. In the present study, we detected 2 different mtDNA mutations among these 373 patients; m.7444G>A in the MT-CO1 gene and m.7472insC in the MT-TS1 gene in 1 patient (0.3%) for each. As these two patients had no clinical features other than HL, they had not been suspected of having mtDNA mutations. This extended screening system together with the previous one is useful for the genetic diagnosis and epidemiological study of both syndromic and nonsyndromic HL.

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.

Sensorineural hearing loss (HL) is one of the most frequent clinical features in patients with mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, and hearing is impaired in over half of all cases with mitochondrial disorders. This study analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 29 major mtDNA mutations, including the m.1555A>G homoplasmic mutation in the MT-RNR1 gene, which causes non-syndromic sensorineural HL and aminoglycoside-induced HL, and the m.3243A>G heteroplasmic mutation in the MT-TL1 gene. This method is rapid and suitable for large-scale screening because universal 96-well plates are available for use, and because an analysis of each plate can be completed within 1 h. This system detected five different mtDNA mutations in 24 of the 373 (6.4%) patients. The m.1555A>G and m.3243A>G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, three mutations, that is, m.8348A>G in the MT-TK gene, m.11778G>A in the MT-ND4 gene and 15498G>A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL.

Value of barium swallow studies in predicting the response to rabeprazole in elderly patients with laryngopharyngeal reflux disease and nonerosive reflux disease in particular.

OBJECTIVES: Laryngopharyngeal reflux disease (LPRD) is an important cause of throat discomfort in the elderly. Our objective was to investigate the usefulness of barium swallow studies for the diagnosis of LPRD. METHODS: The subjects were 59 patients at least 60 years of age with LPRD suspected on laryngoscopic findings. We evaluated esophageal clearance using a barium swallow study and the upper gastrointestinal tract endoscopic findings of gastroesophageal reflux disease according to the revised Los Angeles classification, and correlated these findings with the effect of rabeprazole, a proton pump inhibitor. RESULTS: Among subjects with positive reflux findings in the esophageal phase of the barium swallow, rabeprazole was significantly effective (p = 0.0025). To identify nonerosive reflux disease, we analyzed the 50 cases with a negative Los Angeles classification of upper gastrointestinal tract endoscopic findings. Rabeprazole was again significantly effective in patients with positive findings for esophageal reflux (p = 0.0025). CONCLUSIONS: Among elderly patients with suspected LPRD, there was a positive correlation between impaired esophageal clearance on the barium swallow study and the effectiveness of rabeprazole. The barium swallow study could be a screening test for LPRD in elderly patients with throat discomfort.

[When should tracheotomy be performed in bilateral vocal cord paralysis involving multiple system atrophy?].

OBJECTIVES: Bilateral vocal cord paralysis caused by central nervous system dysfunction results from such diverse causes as cerebrovascular disorder and neurodegenerative disease. Otolaryngologists are often consulted about indications of tracheostomy for such cases, but if their recognition of causative disease is insufficient, it is difficult to judge indications of tracheostomy. We reviewed tracheostomy cases due to bilateral vocal cord paralysis caused by multiple system atrophy (MSA) and considered points to keep in mind in such cases. MATERIALS AND METHODS: We diagnosed 9 cases of vocal cord midline fixation due to central bilateral vocal cord paralysis caused by MSA and treated by tracheostomy. We reviewed clinical conditions and suitable time for tracheostomy because it presents a specific clinical course. RESULTS: 7 cases were MSA-P and 2 cases were MSA-C. Inspiratory stridor in awaking and dysphasia was aggravated at the almost same time in 7 cases. DISCUSSION: Vocal cord abductor paralysis in MSA may cause sudden death, but when an otolaryngologist not familiar with this disease is asked for air way evaluation, it is possible to be diagnosed as no vocal cord paralysis because there is no an adductor disorder, so clinical course of MSA should be clarified more. In vocal cord midline fixation, it was expected that intervention by hypermyotony in the progress of Parkinsonism was a main factor, as was vocal cord abductor disorder due to a neurogenic change in the posterior cricoarytenoid muscle in MSA. The aggravation of dysphasia is an important index in judging the indication of tracheostomy.

[Relationship between globus sensation and esophageal clearance abnormalities in an elderly group].

Recent studies suggest that gastroesophageal reflux disease (GERD) may be a cause of globus sensation. However, it is difficult to examine the reflux of acidic gastric contents directly. We hypothesized that the esophageal clearance capacity against reflux acid may be responsible for the clinical symptoms of GERD. The purpose of this study was to investigate the bolus residue and reflux in the esophagus during swallowing in elderly patients and to discuss the relationship between globus sensation and esophageal clearance abnormalities. Videopharyngoesophageal examinations in the prone position were performed in 156 elderly patients with globus sensation (average age: 74.7 years old). Esophageal clearance in the prone position was classified into 4 subgroups according to the movement of a contrast bolus: Group 1, normal; group 2, retension in esophagus; group 3, reflux of contrast bolus within esophagus; group 4, reflux of contrast bolus into pharyngo-laryngeal regions. Group 1 contained 36 cases (23.1%), group 2 contained 8 cases (5.1%), group 3 contained 79 cases (50.6%), and group 4 contained 33 cases (21.2%). Overall, the reflux of a contrast bolus in the esophagus was observed in 112 cases (71.8%). We concluded that decreased esophageal clearance in elderly subjects affects the defense mechanism against acid exposure and may be a risk factor for the appearance of globus sensation. Videopharyngoesophageal examination in the prone position may be an easy and valuable method for evaluating the function of esophageal clearance.

Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population.

CONCLUSION: Haplogroup D4b, especially subhaplogroup D4b2, may be one of the modifiers associated with the phenotypic expression of hereditary hearing loss (HL). OBJECTIVES: The present study investigated the association between suspected hereditary HL and 12 major mtDNA haplogroups in a Japanese population. Besides the mutations of mitochondrial DNA, many modifiers including environmental factors and genetic polymorphisms are involved in HL. METHODS: The subjects comprised 373 unrelated Japanese patients with suspected hereditary HL and 480 controls. Twenty of the 373 patients were excluded from the study because the m.1555A>G or the m.3243A>G mutation had been detected in them. The mitochondrial haplotypes were classified into 12 major Japanese haplogroups (i.e. F, B, A, N9a, N9b, M7a, M7b, G1, G2, D4a, D4b, and D5). The frequency of each haplogroup in patients with HL was compared with that of the controls using the chi-squared test. RESULTS: The frequency of the HL patients carrying the mitochondrial haplogroup D4b was significantly higher than that of the controls (37/353 [10.5%] vs 31/480 [6.5%]; OR 1.70 [95% CI 1.03-2.79, p = 0.036]) and evidence for enhancement was found in subhaplogroup D4b2 (32/353 [9.1%] vs 24/480 [5%], OR 1.89 [95% CI 1.09-3.28, p = 0.021]).