Comprehensive Analysis of Juvenile Nasopharyngeal Angiofibromas via Whole-Exome Sequencing.

INTRODUCTION: The molecular basis and mechanisms of juvenile nasopharyngeal angiofibromas (JNA) pathogenesis are still unknown. Despite being a rare and benign neoplasm, JNA is a locally aggressive and potentially destructive head and neck neoplasm, typically found in young males. The advancement of genome technologies and analytical tools has provided an unparalleled opportunity to explore the intricacy of JNA. The present study provides the first evidence of the involvement of Y-chromosome genes in JNA. METHODS: A total of 13 JNA patients at an advanced disease stage and five age-matched male controls were registered for this study. Whole-exome sequencing (WES) analysis was conducted followed by functional analysis to understand the molecular mechanism of the JNA. RESULTS: WES analysis revealed a high prevalence of mutations in 14 genes within the protein-coding, male-specific region of the Y-chromosome of young males (mean age: 13.8 ± 2.4) with JNA. These mutations, occurring at 28 distinct positions, were characterized as moderate to high impact and were prevalent in nine JNA patients but not in the control group. The most frequently mutated genes were USP9Y and UTY, followed by KDM5D, DDX3Y, and TSPY4. The expression of USP9Y, UTY, and DDX3Y was found to be co-modulated, implying their coordinated regulation as a complex. Furthermore, somatic mutations were detected in genes previously linked to JNA. CONCLUSION: The wide array of genetic mutations in the Y-chromosome male-specific region, along with the somatic alterations identified in JNA, provides novel insights into JNA pathophysiology.

Metagenomic insights into fungal community composition of the nasopharyngeal region of COVID-19 associated mucormycosis patients from India.

Coronavirus disease 2019 (COVID-19) associated mucormycosis (CAM) was reported predominantly from India during the second wave of COVID-19  and has a high mortality rate. The present study aims to understand the fungal community composition of the nasopharyngeal region of CAM-infected individuals and compare it with severe COVID-19 patients and healthy controls. The fungal community composition was decoded by analyzing the sequence homology of the internal transcribed spacer-2-(ITS-2) region of metagenomic DNA extracted from the upper respiratory samples. The alpha-diversity indices were found to be significantly altered in CAM patients (p < 0.05). Interestingly, a higher abundance of Candida africana, Candida haemuloni, Starmerella floris, and Starmerella lactiscondensi was observed exclusively in CAM patients. The interindividual changes in mycobiome composition were well supported by beta-diversity analysis (p < 0.05). The current study provides insights into the dysbiosis of the nasal mycobiome during CAM infection. In conclusion, our study shows that severe COVID-19 and CAM are associated with alteration in mycobiome as compared to healthy controls. However, the sequential alteration in the fungal flora which ultimately leads to the development of CAM needs to be addressed by future studies.

Split-bolus, single-phase contrast enhanced CT: a one-stop shop for invasive fungal sinusitis.

Contrast-enhanced magnetic resonance imaging is considered the imaging modality of choice for invasive fungal sinusitis (IFS); however, it is not feasible to perform emergency CEMRI especially in the setting of COVID-19. The CECT protocol for evaluation of suspected IFS can be modified by using split-bolus, single-phase CT as it provides an optimal soft tissue demonstration of sinonasal disease; extrasinus spread to orbit, and intracranial involvement along with simultaneous opacification of the internal carotid artery and cavernous sinus. The extent of bone erosion can also be well delineated on the multiplanar reconstructions (MPRs) in the bone window. Further a structured reporting format can help provide optimal surgical guidance in cases of IFS.

Human papilloma virus in the etiopathogenesis of allergic nasal polyposis: A prospective study.

PURPOSE: To evaluate and compare the prevalence of high-risk HPV and low-risk HPV types in patients with chronic rhinosinusitis with nasal polyposis (CRSwNP) and healthy controls. MATERIALS AND METHODS: A prospective cohort study was conducted in a tertiary care hospital on the patients of CRSwNP undergoing surgical management. All patients underwent preoperative endoscopic evaluation and radiological assessment using NCCT of the nose and paranasal sinuses. The severity of the disease was graded using the Lund-Mackay score on NCCT. All patients underwent endoscopic polypectomy and the sample of tissues was sent for HPV DNA detection using Hybrid Capture II® technique. The clinicopathological characteristics of HPV positive and negative patients were compared. RESULTS: Sixty cases and 20 controls were included in the study. All controls were negative for HPV DNA. 27 patients (45%) had the presence of HPV DNA, out of which 23 had only LR-HPV and 1 had only HR-HPV types. Three patients had both HR-HPV and LR-HPV subtypes. There was a significant difference between the cases and controls for the presence of HPV DNA (p < 0.001). However, the patients with HPV-positive DNA in the nasal specimen did not differ significantly from HPV-negative patients in age, gender, or severity of the disease. CONCLUSIONS: Human papillomaviruses may play a significant role in the etiopathogenesis of CRSwNP, however, do not impact the degree of sinus involvement.

Sinonasal IgG4-related disease: a rare and emerging entity broadening the differential diagnosis in the sinonasal universe.

BACKGROUND: IgG4-related disease (IgG4-RD) is a multi-organ immune-mediated disorder characterized by fibroinflammatory mass-forming lesions, mimicking malignancy or infection. While well-documented in salivary glands, orbit and thyroid in the head and neck, sinonasal IgG4-RD is rare. METHODS: Cases of sinonasal IgG4-RD were retrieved, and clinicopathological features reviewed. RESULTS: Seven cases of sinonasal IgG4-RD were identified over a 2-year period, including three males and four females, with an age range of 13-48 years (median: 32 years). Patients presented with cheek swelling, pain and visual disturbances. Serum IgG4 levels were mildly elevated. Storiform fibrosis, obliterative phlebitis and plasma cell infiltration were seen in varying proportions. Destruction of bone and subepithelial mucoserous glands was present. ALK-1 negativity distinguished from inflammatory myofibroblastic tumor. CONCLUSION: Sinonasal IgG4-RD expands the growing spectrum of IgG4-RD. A high degree of suspicion is required to include IgG4-RD in differential diagnosis of sinonasal masses, and perform detailed histological and immunohistochemical workup for accurate diagnosis.

Revisiting rhino-orbito-cerebral acute invasive fungal sinusitis in the era of COVID-19: pictorial review.

COVID-19 patients have been found to have an increased incidence of superadded fungal infections because of multiple factors such as impaired cell-mediated immunity, immunosuppressive therapy, and coexistent diabetes mellitus. Recently, there has been a significant rise in the COVID-19-associated mucormycosis and aspergillosis cases involving the sinonasal cavity and the lungs. Rhino-orbito-cerebral acute invasive fungal rhinosinusitis (AIFR) is a potentially life-threatening, invasive fungal infection. Early diagnosis followed by prompt medical management and surgical intervention is crucial for patient survival. The role of cross-sectional imaging (CT/MRI) is not only to suggest a diagnosis of invasive fungal sinusitis but also to delineate the complete extent of disease. Mapping the extent of orbital and intracranial disease has prognostic as well as management implications, as involvement of these sites marks a worse prognosis. A stepwise approach to evaluation of imaging of AIFR along with a pictorial depiction of the key imaging findings is presented.

Vegan Glucosamine versus Crustacean Glucosamine in Osteoarthritis: Choosing the Correct One During Clinical Practice.

The present commentary critically evaluates the role of glucosamine in joint health, specifically exploring the potential of vegan glucosamine as an alternative of crustacean glucosamine. While acknowledging glucosamine's established benefits in managing osteoarthritis, this commentary underscores concern regarding the limited data supporting the clinical use of vegan glucosamine. Methodological flaws in the bioequivalence study, lax quality parameters, and the absence of safety data for E. coli-derived vegan glucosamine are highlighted. The commentary calls for caution in endorsing vegan glucosamine for osteoarthritis patients, stressing the need for further research and a thorough evaluation of its efficacy and safety before widespread clinical adoption.

Neck lump evaluation and pseudoaneurysm.

Pseudoaneurysm is the formation of a sac due to damage in the continuity of the arterial wall. Iatrogenic carotid artery aneurysm is a rare, life-threatening complication following fine needle aspiration (FNA). We are presenting here a case of pseudoaneurysm following FNA with a literature review.

Nasopharyngeal Cyst Causing Hearing Loss: Case Report and Review of Literature.

Symptomatic nasopharyngeal cysts are relatively uncommon. Here is a case report of 50 years of age female with hearing loss secondary to the nasopharyngeal cyst. She underwent endoscopic marsupialization and achieved normal hearing postoperatively.The study aims to determine the incidence of hearing loss, radiological patterns and histopathological findings associated with the nasopharyngeal cyst.