Multidisciplinarity and Transdisciplinarity as Current Trends in Otorhinolaryngology and Head and Neck Pathology

The specialty of otorhinolaryngology and cervicofacial surgery has experienced accelerated development in recent decades through the development of the techniques and technologies involved [...

Histopathological results of adenoidectomy and/or tonsillectomy: 14 years of experience

The necessity of routine pathologic examinations is still debatable considering the cost and the increase in workload. With a very wide spectrum of patients, this study aims to examine the cases collected in our hospital archive for the past 14 years retrospectively and to contribute to the literature on a subject that is still controversial. The results of adenoidectomy and/or tonsillectomy specimens of 5.658 patients who underwent adenoidectomy and/or tonsillectomy under general anaesthesia were evaluated. The number of patients who underwent only adenoidectomy was 2.057 (36.3%), whereas the number of patients who underwent only tonsillectomy was 978 (17.2%). Adenoidectomy together with tonsillectomy was performed on the remaining 2.623 (46.5%) patients. A total number of 11.882 specimens from 5.658 were evaluated histopathologically. The results showed that 2.846 (50.3%) patients had lymphoid hyperplasia, 1.651 (29.1%) had chronic inflammation, 1.012 (17.8%) had coexistence of lymphoid hyperplasia and chronic inflammation, 113 (1.99%) had Actinomyces granules, nine (0.15%) had squamous papilloma, three (0.05%) had epidermoid cyst, two (0.03%) had Aspergillus sphericules and 1 (0.01%) had foreign object reaction. None of the patients who underwent tonsillectomy without a pre-diagnosis of malignancy were diagnosed with cancer. However, a 12-year-old patient without a pre-diagnosis of malignancy was reported to have undifferentiated nasopharyngeal cancer (1/4.680, 0.021%). It's possible that routine pathological examination, especially on patients under the age of 10, is not necessary when there is no finding that raises suspicion for malignancy. [Med-Science 2023; 12(4.000): 1062-5

Prevalence of the Helicobacter pylori in the tonsils and adenoids

INTRODUCTION: There is an ongoing debate about the existence and effects of Helicobacter pylori (Hp) in adenotonsillar tissue. OBJECTIVE: A clinical study was conducted to assess the existence of Hp in the adenoid and/or adenotonsillar tissues, which were surgically excised due to chronic adenotonsillitis. METHODS: Phosphoglucosamine mutase gene for the detection of Hp and cytotoxin-associated gene as virulence gene were examined in 84 adenotonsillar tissues obtained from 64 patients and patients' serum by using polymerase chain reaction. RESULTS: Hp IgG was detected in 57 (89%) patients' serum. A total of seven tissue samples from 64 patients (10.9%) were found positive for Hp DNA, of which five were adenoids and two were tonsil tissues. All polymerase chain reaction positive samples were also positive for the cytotoxin-associated gene, which is a virulence determinant for the organism. CONCLUSION: This study suggests that children are exposed to Hp at an early age of their life in this province. Hp may have a role in the pathogenesis of chronic adenotonsillitis, especially in endemic areas

Could sudden sensorineural hearing loss be the sole manifestation of COVID-19? An investigation into SARS-COV-2 in the etiology of sudden sensorineural hearing loss

OBJECTIVE This study aimed to investigate the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients presenting with only sudden sensorineural hearing loss (SSHNL) during the COVID-19 pandemic. METHODS The study included five male patients who presented with the sole complaint of unilateral SSNHL to the otolaryngology outpatient clinic between 03–12 April 2020. The patients were referred to the infectious diseases clinic to be evaluated for SARS-CoV-2 by real time polymerase chain reaction (RT-PCR) testing. RESULTS RT-PCR testing for SARS-CoV-2 was positive in one of the patients and negative in the other four patients. A positive response to COVID-19-specific treatment in the SARS-CoV-2 positive SSNHL patient was noted. CONCLUSION It should be remembered that non-specific symptoms such as SSNHL could be the only sign with which to recognize a COVID-19 case. Awareness of such a non-specific presentation of COVID-19 patients is crucial during this pandemic period for preventing infectious spread through isolation and early initiation of COVID-19 targeted treatment

Reporting Data on Auditory Brainstem Responses (ABR) in Rats: Recommendations Based on Review of Experimental Protocols and Literature

Research in hearing science is accelerating, and a wealth of data concerning auditory brainstem responses (ABR) in various animal models is published in peer-reviewed journals every year. Recently, we reviewed studies using ABR measurements in tinnitus rat models. We found significant discrepancies in the outcomes of these studies, some due to different research approaches and others due to different methodologies. Thus, the present work aimed to collect comprehensive information on all factors influencing ABR recordings in rats and compile recommendations on ABR data reporting. A questionnaire with queries about animal husbandry, transfer, handling, and the exact test conditions before, during, and after ABR recordings was sent to 125 researchers who published the relevant studies between 2015 and 2021. Eighteen researchers provided detailed answers on factors related to ABR measurements. Based on the analysis of the returned questionnaires, we identified three domains reflecting animal-, equipment-, and experiment-dependent factors that might influence the ABR outcome, thus requiring reporting in published research. The analysis of survey results led to the compilation of recommendations for reporting ABR outcomes supported by a literature review. Following these recommendations should facilitate comparative and meta-analyses of ABR results provided by various research groups

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

Autosomal dominant sensorineural hearing loss (ADSNHL) is a genetically heterogeneous disorder caused by pathogenic variants in various genes, including MYH14. However, the interpretation of pathogenicity for MYH14 variants remains a challenge due to incomplete penetrance and the lack of functional studies and large families. In this study, we performed exome sequencing in six unrelated families with ADSNHL and identified five MYH14 variants, including three novel variants. Two of the novel variants, c.571G > C (p.Asp191His) and c.571G > A (p.Asp191Asn), were classified as likely pathogenic using ACMG and Hearing Loss Expert panel guidelines. In silico modeling demonstrated that these variants, along with p.Gly1794Arg, can alter protein stability and interactions among neighboring molecules. Our findings suggest that MYH14 causative variants may be more contributory and emphasize the importance of considering this gene in patients with nonsyndromic mainly post-lingual severe form of hearing loss. However, further functional studies are needed to confirm the pathogenicity of these variants

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and large HL families. Over one-third of families with hereditary HL remain etiologically undiagnosed after screening for mutations in the recognized genes. Genetic heterogeneity complicates the analysis in multiplex families where variants in more than one gene can be causal in different individuals even in the same sibship. We employed exome or genome sequencing in at least two affected individuals with congenital or prelingual-onset, severe to profound, non-syndromic, bilateral sensorineural HL from four multiplex families. Bioinformatic analysis was performed to identify variants in known and candidate deafness genes. Our results show that in these four families, variants in a single HL gene do not explain HL in all affected family members, and variants in another known or candidate HL gene were detected to clarify HL in the entire family. We also present a variant in TOGARAM2 as a potential cause underlying autosomal recessive non-syndromic HL by showing its presence in a family with HL, its expression in the cochlea and the localization of the protein to cochlear hair cells. Conclusively, analyzing all affected family members separately can serve as a good source for the identification of variants in known and novel candidate genes for HL

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families from South and West Asia and Latin America. Biallelic GJB2 variants were identified in 58 probands at the time of enrollment these probands were excluded. In addition, upon review of phenotypic findings, 38/322 probands were excluded based on syndromic findings at the time of ascertainment and no further evaluation was performed on those samples. We performed ES as a primary diagnostic tool on one or two affected individuals from 212/226 families. Via ES we detected a total of 78 variants in 30 genes and showed their co-segregation with HL in 71 affected families. Most of the variants were frameshift or missense and affected individuals were either homozygous or compound heterozygous in their respective families. We employed GS as a primary test on a subset of 14 families and a secondary tool on 22 families which were unsolved by ES. Although the cumulative detection rate of causal variants by ES and GS is 40% (89/226), GS alone has led to a molecular diagnosis in 7 of 14 families as the primary tool and 5 of 22 families as the secondary test. GS successfully identified variants present in deep intronic or complex regions not detectable by ES