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Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases
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Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 July 2025 | Viewed by 15361

Special Issue Editors

Dr. Wojciech Kukwa

E-Mail Website
Guest Editor
Department of Otolaryngology, Medical University of Warsaw, Warsaw, Poland
Interests: OSA; sleep disorders and sleep medicine; treatment; tumors; cancer; oncology; otolaryngology; sleep medicine
Special Issues, Collections and Topics in MDPI journals
Dr. Mirosław J. Szczepański

E-Mail Website
Guest Editor
Laboratory of Centre for Preclinical Research, Medical University of Warsaw, Warsaw, Poland
Interests: rhinosinusitis; Graves’ ophthalmopathy; scuba-diving medicine; treatment; otolaryngology; tumor immunology; exosomes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

ENT specialists have the privilege of dealing with an extremely interesting body area with a complex anatomical structure and function. It is a wide specialty where rapid progress in diagnosis, treatment and management can be observed in rhinology, otology and upper aerodigestive tract disorders. Additionally, ENT specialists continue to progress in the diagnosis and therapy of head and neck cancers, and participate in the development of increasingly effective methods of diagnosing and treating sleep breathing disorders. The primary goal of this Special Issue is to advance our knowledge of ENT scientific progress and achievements. We invite all researchers in the field to contribute to this Special Issue in the form of systematic reviews, original research articles or communications.

Dr. Wojciech Kukwa
Dr. Mirosław J. Szczepański
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

 

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Published Papers (7 papers)

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Research

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10 pages, 1001 KiB  
Article
An Epigenetic Locus Associated with Loss of Smell in COVID-19
by Elif Sibel Aslan, Kenneth White, Gulsen Meral, Zeyneb Nur Akcay, Aytug Altundag, Savas Gur, Mehmet Dokur, Mehmet Akif Baktir and Lutfiye Karcioglu Batur
Diagnostics 2024, 14(24), 2823; https://doi.org/10.3390/diagnostics14242823 - 15 Dec 2024
Viewed by 1032
Abstract
Background/Aim: Loss of smell, also known as anosmia, is a prevalent and often prolonged symptom following infection with SARS-CoV-2. While many patients regain olfactory function within weeks, a significant portion experience persistent anosmia lasting over a year post-infection. The underlying mechanisms responsible for [...] Read more.
Background/Aim: Loss of smell, also known as anosmia, is a prevalent and often prolonged symptom following infection with SARS-CoV-2. While many patients regain olfactory function within weeks, a significant portion experience persistent anosmia lasting over a year post-infection. The underlying mechanisms responsible for this sensory deficit remain largely uncharacterized. Previous studies, including genome-wide association studies (GWAS), have identified genetic variants near the UGT2A1 and UGT2A2 genes that are linked to anosmia in COVID-19 patients. However, the role of epigenetic changes in the development and persistence of smell loss has not been well explored. In this study, we aimed to investigate epigenetic alterations in the form of DNA methylation in the UGT1A1 gene, which is a locus associated with olfactory dysfunction in COVID-19 patients. Methods: We analysed DNA methylation patterns in blood samples from two carefully matched cohorts of 20 COVID-19 patients each, which are differentiated by their olfactory function—those with normal smell (normosmia) and those suffering from smell loss (anosmia). The cohorts were matched for age and sex to minimize potential confounding factors. Results: Using quantitative analysis, we found significantly lower levels of DNA methylation in the UGT1A1 locus in the anosmia group compared to the normosmia group, with a 14% decrease in median methylation values in patients with smell loss (p < 0.0001). These findings highlight potential epigenomic alterations in the UGT1A1 gene that may contribute to the pathogenesis of anosmia following COVID-19 infection. Our results suggest that the methylation status at this locus could serve as a biomarker for olfactory dysfunction in affected individuals. Conclusion: This study is among the first to describe epigenetic changes associated with smell loss in COVID-19, providing a foundation for future research into targeted interventions and potential therapeutic strategies aimed at reversing persistent anosmia. Further investigations involving larger cohorts and additional loci may help elucidate the complex interaction between genetic, epigenetic, and environmental factors influencing long-term sensory impairment post-COVID-19. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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10 pages, 1309 KiB  
Article
Evaluation of Changes in the Patency of the Nasal Cavity and Eustachian Tube Depending on the Phase of the Menstrual Cycle: A Pilot Study
by Alicja Grajczyk, Krystyna Sobczyk and Karolina Dżaman
Diagnostics 2024, 14(18), 2044; https://doi.org/10.3390/diagnostics14182044 - 14 Sep 2024
Viewed by 1084
Abstract
(1) Background: Estrogen and progesterone, hormones specific to females, undergo fluctuations during the menstrual cycle. The aim of this study was to assess subjective and objective changes in nasal cavity and Eustachian tube patency depending on the phase of the menstrual cycle in [...] Read more.
(1) Background: Estrogen and progesterone, hormones specific to females, undergo fluctuations during the menstrual cycle. The aim of this study was to assess subjective and objective changes in nasal cavity and Eustachian tube patency depending on the phase of the menstrual cycle in two groups of women: those in a follicular phase group and those in a luteal phase group. (2) Materials and Methods: The study group consisted of 25 healthy non-pregnant women aged 24 to 32. Based on the phase of the cycle confirmed in sonography, they were divided into follicular phase (FP) and luteal phase (LP) groups. The Eustachian tube and nasal cavity patency examination was carried out using a SNOT-22 Questionnaire, a rhinomanometer, and a tympanometer. (3) Results: We observed that the incidence of nasal obstruction in SNOT-22 was significantly dependent on the cycle phase (p = 0.012) and was lower in the FP compared to the LP. Similar relationships were noticed between the cycle phase and the rhinomanometry outcome, where the LP was associated with a lower flow. We also revealed that the incidence of ear blockage significantly depended on the cycle phase (p = 0.001) and was lower in the FP compared to the LP. Women whose nasal patency deteriorated during the LP also had more negative pressure values in tympanometry. We observed that patients with negative PEAK L and R levels had a lower flow in rhinomanometry. (4) Conclusions: The results highlight the menstrual cycle’s substantial impact on both subjective and objective nasal and Eustachian tube patency measurements. The novel finding in this study is that women whose nasal patency deteriorated during the luteal phase also had more negative pressure values in tympanometry. These results suggest that the deterioration of hearing during the menstrual cycle could be a result of swelling of the nasal mucosa and tubes. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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9 pages, 1543 KiB  
Article
Diagnosis of Eosinophilic Otitis Media Using Blood Eosinophil Levels
by Yeonsu Jeong, Gina Na, Jong-Gyun Ha, Dachan Kim, Junyup Kim and Seonghoon Bae
Diagnostics 2023, 13(23), 3598; https://doi.org/10.3390/diagnostics13233598 - 4 Dec 2023
Cited by 1 | Viewed by 2002
Abstract
Eosinophilic otitis media (EOM) is a rare middle ear disease with unfavorable outcomes. Under the current diagnostic criteria of EOM, it is challenging to suspect EOM before tympanostomy. Therefore, this study attempted to use blood eosinophil levels for the differential diagnosis of EOM [...] Read more.
Eosinophilic otitis media (EOM) is a rare middle ear disease with unfavorable outcomes. Under the current diagnostic criteria of EOM, it is challenging to suspect EOM before tympanostomy. Therefore, this study attempted to use blood eosinophil levels for the differential diagnosis of EOM from other conditions. Three disease groups with features of recurrent otorrhea were categorized, which included the following: EOM (n = 9), granulomatosis with polyangiitis (GPA, n = 12), and primary ciliary dyskinesia (PCD, n = 6). Clinical and radiological characteristics were analyzed in the three groups. Patients who underwent ventilation tube insertion due to serous otitis media were enrolled as the control group (n = 225) to evaluate the diagnostic validity of blood eosinophilia. The EOM group showed a significantly higher blood eosinophil concentration (p < 0.001) and blood eosinophil count (p < 0.001) compared to the GPA and PCD groups. The estimated sensitivity and specificity for diagnosing EOM from OME patients who underwent ventilation tube insertion were 100% and 95.6%, respectively. In addition, EOM tended to have protympanic space soft tissue density and a relatively clear retrotympanic space in temporal bone computerized tomography. Blood eosinophil evaluation is a significant clinical indicator of EOM. Furthermore, the assessment of exclusive protympanic soft tissue density can provide an additional diagnostic clue. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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14 pages, 2490 KiB  
Article
HMGB1 Carried by Small Extracellular Vesicles Potentially Plays a Role in Promoting Acquired Middle Ear Cholesteatoma
by Michał W. Łuczak, Karolina Dżaman, Łukasz Zaręba, Katarzyna Czerwaty, Jacek Siewiera, Alicja Głuszko, Ewa Olszewska, Jacek Brzost, Ireneusz Kantor, Mirosław J. Szczepański and Nils Ludwig
Diagnostics 2023, 13(22), 3469; https://doi.org/10.3390/diagnostics13223469 - 17 Nov 2023
Cited by 1 | Viewed by 1437
Abstract
Cholesteatoma is a specific medical condition involving the abnormal, non-cancerous growth of skin-like tissue in the middle ear, potentially leading to a collection of debris and even infections. The receptor for advanced glycation (RAGE) and its ligand, high-mobility box 1 (HMGB1), are both [...] Read more.
Cholesteatoma is a specific medical condition involving the abnormal, non-cancerous growth of skin-like tissue in the middle ear, potentially leading to a collection of debris and even infections. The receptor for advanced glycation (RAGE) and its ligand, high-mobility box 1 (HMGB1), are both known to be overexpressed in cholesteatoma and play a potential role in the pathogenesis of the disease. In this study, we investigated the role of small extracellular vesicles (sEVs) in carrying HMGB1 and inducing disease-promoting effects in cholesteatoma. No significant differences in the concentration of isolated sEVs in the plasma of cholesteatoma patients (n = 17) and controls (n = 22) were found (p > 0.05); however, cholesteatoma-derived sEVs carried significantly higher levels of HMGB1 (p < 0.05). In comparison to sEVs isolated from the plasma of controls, cholesteatoma-derived sEVs significantly enhanced keratinocyte proliferation and IL-6 production (p < 0.05), potentially by engaging multiple activation pathways including MAPKp44/p42, STAT3, and the NF-κB pathway. Thus, HMGB1(+) sEVs emerge as a novel factor potentially promoting cholesteatoma progression. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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11 pages, 1740 KiB  
Article
Predicting the Probability of the Incidence of Maxillary Sinus Fungus Ball in Patients Using Nomogram Models
by Yu-Hsi Fan, Kai-Yi Shih, Pei-Wen Wu, Yen-Lin Huang, Ta-Jen Lee, Chi-Che Huang, Po-Hung Chang and Chien-Chia Huang
Diagnostics 2023, 13(19), 3156; https://doi.org/10.3390/diagnostics13193156 - 9 Oct 2023
Cited by 3 | Viewed by 1594
Abstract
Maxillary sinus fungal ball (MSFB) is the most common type of non-invasive fungal rhinosinusitis. Since MSFB requires a unique treatment strategy and is associated with potentially severe complications, timely and precise diagnosis is crucial. Computed tomography (CT) is the first-line imaging tool for [...] Read more.
Maxillary sinus fungal ball (MSFB) is the most common type of non-invasive fungal rhinosinusitis. Since MSFB requires a unique treatment strategy and is associated with potentially severe complications, timely and precise diagnosis is crucial. Computed tomography (CT) is the first-line imaging tool for evaluating chronic rhinosinusitis. Accordingly, we aimed to investigate the clinical and CT imaging characteristics of MSFB. We retrospectively enrolled 97 patients with unilateral MSFB and 158 with unilateral non-fungal maxillary rhinosinusitis. The clinical characteristics, laboratory data, and CT imaging features of participants were evaluated. Older age, female sex, lower white blood cell and neutrophil counts, and CT imaging features (including an irregular surface, erosion of the medial sinus wall, sclerosis of the lateral sinus wall, and intralesional hyperdensity) were significantly associated with MSFB. The presence of adjacent maxillary odontogenic pathology was associated with a decreased likelihood of the incidence of MSFB in unilateral maxillary rhinosinusitis. Separate nomograms were created for patients, without and with the use of CT scan, to predict the probabilities of MSFB in patients with unilateral maxillary rhinosinusitis. We proposed two nomograms based on the clinical and CT characteristics of patients with MSFB. These could serve as evaluation tools to assist clinicians in determining the need for undergoing CT and facilitate the accurate and timely diagnosis of MSFB. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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Review

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15 pages, 5234 KiB  
Review
The Differential Diagnosis of Congenital Developmental Midline Nasal Masses: Histopathological, Clinical, and Radiological Aspects
by Michal Kotowski
Diagnostics 2023, 13(17), 2796; https://doi.org/10.3390/diagnostics13172796 - 29 Aug 2023
Cited by 2 | Viewed by 5946
Abstract
Developmental midline nasal masses including nasal dermoids (NDs), encephaloceles (EPHCs), and nasal glial heterotopias (NGHs) are a consequence of disrupted embryonal developmental processes in the frontonasal region. Surgery is the only method of treatment in order to prevent local and intracranial inflammatory complications [...] Read more.
Developmental midline nasal masses including nasal dermoids (NDs), encephaloceles (EPHCs), and nasal glial heterotopias (NGHs) are a consequence of disrupted embryonal developmental processes in the frontonasal region. Surgery is the only method of treatment in order to prevent local and intracranial inflammatory complications as well as distant deformities of the facial skeleton. Due to their rarity, similar location, and clinical and radiological symptoms, meticulous preoperative differential diagnostics is mandatory. The aim of this thorough literature review was to present and discuss all clinical, histopathological, and radiological aspects of NDs, NGHs, and EPHCs that are crucial for their differential diagnosis. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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Other

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13 pages, 578 KiB  
Systematic Review
A Systematic Review of Circulating miRNAs Validated by Multiple Independent Studies in Laryngeal Cancer
by Andreea Banta, Felix Bratosin, Ioana Golu, Ana-Olivia Toma and Eugenia Maria Domuta
Diagnostics 2025, 15(3), 394; https://doi.org/10.3390/diagnostics15030394 - 6 Feb 2025
Cited by 1 | Viewed by 728
Abstract
Background and Objectives: Laryngeal squamous cell carcinoma (LSCC) is a common head and neck cancer with significant morbidity and mortality. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis and prognosis. This systematic review aims to identify circulating miRNAs associated [...] Read more.
Background and Objectives: Laryngeal squamous cell carcinoma (LSCC) is a common head and neck cancer with significant morbidity and mortality. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis and prognosis. This systematic review aims to identify circulating miRNAs associated with LSCC, emphasizing those validated by at least two independent studies to improve reliability and clinical applicability. Methods: An extensive literature search was performed in the PubMed, Scopus, and Web of Science databases up to October 2024, using keywords related to LSCC and circulating miRNAs. Studies involving human participants that provided quantitative data on circulating miRNA expression levels and their clinical correlations were included. Data extraction and quality assessment were conducted following standardized protocols, highlighting miRNAs reported in multiple studies. Results: Nine high-quality studies encompassing 660 patients with LSCC and 212 controls were included. Several miRNAs were consistently identified across these studies. miR-21-5p was upregulated in four studies and associated with advanced disease stages, lymph node metastasis, and decreased survival rates. miR-125b-5p and miR-126-3p were consistently downregulated, linked to advanced clinical stages and poor tumor differentiation. miR-27a-3p was upregulated in two studies and correlated with poor prognosis, promoting LSCC progression by targeting Smad4. Additionally, miR-33a-5p was identified as a potential diagnostic biomarker with high sensitivity and specificity. These miRNAs show potential as non-invasive biomarkers for the diagnosis and prognosis of LSCC. Conclusions: This systematic review highlights specific circulating miRNAs—particularly miR-21-5p, miR-125b-5p, miR-126-3p, miR-27a-3p, and miR-33a-5p—as promising biomarkers for LSCC. The consistent findings across independent studies emphasize their potential clinical utility in early detection, prognostic assessment, and therapeutic targeting. However, further validation in larger and more diverse populations, along with the standardization of detection methods, is necessary before these biomarkers can be implemented in clinical practice. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of ENT (Ear–Nose–Throat) Diseases)
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