Therapeutic approaches to sinonasal NUT carcinoma: a systematic review.

PURPOSE: Sinonasal nuclear protein in testis carcinoma (SNUTC) is a rare, aggressive malignancy caused by genetic rearrangements in the NUTM1 gene. The prognosis of SNUTC ranks among the most unfavorable within the naso-sinusal district, with an overall survival of 9.7 months. This systematic review aimed to determine the best therapeutic strategy for SNUTC. METHODS: We reviewed eligible articles for patient demographics, TNM and stage at presentation, best response after primary treatment, disease-free survival and overall survival (OS) times, other following therapy lines, and final outcomes. RESULTS: Among 472 unique citations, 17 studies were considered eligible, with reported treatment data for 25 patients. Most studies (n = 12) were case reports. The most frequently administered treatment regimen was surgery as primary treatment and combined radiochemotherapy as second-line or adjuvant treatment. Four patients were alive at follow-up. CONCLUSION: Basing on the existing literature, a standardized line in the treatment of SNUTC is not yet well delineated. A self-personalized strategy of therapy should be drawn on each patient affected by SNUTC.

A parathyroid cancer with soporous state, depression, and severe cognitive decline in acute renal failure.

Key Clinical Message: Soporous state in acute renal failure represent an atypical presentation of parathyroid cancer. Complete prompt investigations and diagnosis have a fundamental role in the management of this disease. Abstract: This report describes a case of parathyroid carcinoma (PC) with an uncommon first clinical presentation: soporous state, depression, and severe cognitive decline in association with acute renal failure. After discovering extremely high serum calcium and parathyroid hormone (PTH) levels, the diagnosis of primary hyperparathyroidism (pHPT) was made and a surgical en bloc resection was performed. After the surgical intervention, the histological examination revealed the presence of a malignant parathyroid disease, thus confirming our first preoperative suspicion.

Nasal Cytology on 241 Children: From Birth to the First 3 Years of Life and Association with Common Airways Diseases.

BACKGROUND: Nasal cytology at birth and in the pediatric age is barely investigated regarding its association with the onset of common pediatric diseases. METHODS: We enrolled 241 newborns within their first 24 h of life, studying their nasal cellular composition and repeating this at 1 and 3 years of life. We collected anamneses of perinatal factors and external factors (parental smoking, passive smoking, breastfeeding), and the prevalence of otitis, rhinosinusitis, bronchitis, asthma, and allergy at all timepoints. RESULTS: 204 children completed the study. At birth, there was a prevalence of ciliated cells and rare neutrophils. At 1 and 3 years, ciliated cells started reducing in favor of muciparous cells and neutrophils. We found that caesarian delivery and nasogastric tube usage for choanal patency are significantly related to a certain cellular nasal composition. Additionally, development of upper respiratory tract infections, AOM (acute otitis media) and allergy correlates with specific cytological compositions which may predict those pathologies. CONCLUSIONS: Our study is the first to show the normal nasal mucosa cellular composition and development in the first 3 years of life in a large cohort. Nasal cytology may be a tool for early risk assessment in the occurrence of upper airway disease.

Artificial intelligence, machine learning, and deep learning in rhinology: a systematic review.

PURPOSE: This PRISMA-compliant systematic review aims to analyze the existing applications of artificial intelligence (AI), machine learning, and deep learning for rhinological purposes and compare works in terms of data pool size, AI systems, input and outputs, and model reliability. METHODS: MEDLINE, Embase, Web of Science, Cochrane Library, and ClinicalTrials.gov databases. Search criteria were designed to include all studies published until December 2021 presenting or employing AI for rhinological applications. We selected all original studies specifying AI models reliability. After duplicate removal, abstract and full-text selection, and quality assessment, we reviewed eligible articles for data pool size, AI tools used, input and outputs, and model reliability. RESULTS: Among 1378 unique citations, 39 studies were deemed eligible. Most studies (n = 29) were technical papers. Input included compiled data, verbal data, and 2D images, while outputs were in most cases dichotomous or selected among nominal classes. The most frequently employed AI tools were support vector machine for compiled data and convolutional neural network for 2D images. Model reliability was variable, but in most cases was reported to be between 80% and 100%. CONCLUSIONS: AI has vast potential in rhinology, but an inherent lack of accessible code sources does not allow for sharing results and advancing research without reconstructing models from scratch. While data pools do not necessarily represent a problem for model construction, presently available tools appear limited in allowing employment of raw clinical data, thus demanding immense interpretive work prior to the analytic process.

Lyme neuroborreliosis as a cause of sudden sensorineural hearing loss and facial palsy.

We present a case of sudden sensorineural hearing loss and rapidly progressive facial palsy in a female patient in her 40s with no, apparently, notable past medical or surgical history. Investigations revealed a positive serology for B. burgdoferi and the MRI allowed us to identify suggestive signs of Lyme meningitis with multiple cranial nerve involvement. After diagnosis, the patient was treated with intravenous ceftriaxone with a full recovery of sensorineural deafness and facial palsy. This case report highlights the importance of collecting a complete medical history in all cases of facial palsy and sudden hearing loss while presenting an infrequent clinical presentation of early disseminated Lyme disease with neuroborreliosis.

Advanced Differentiated Thyroid Cancer: A Complex Condition Needing a Tailored Approach.

Differentiated thyroid cancers (DTCs) are slow-growing malignant tumours, including papillary and follicular carcinomas. Overall, prognosis is good, although it tends to worsen when local invasion occurs with bulky cervical nodes, or in the case of distant metastases. Surgery represents the main treatment for DTCs. However, radical excision is challenging and significant morbidity and functional loss can follow the treatment of the more advanced forms. Literature on advanced thyroid tumours, both differentiated and undifferentiated, does not provide clear and specific guidelines. This emerges the need for a tailored and multidisciplinary approach. In the present study, we report our single-centre experience of 111 advanced (local, regional, and distant) DTCs, investigating the rate of radical excision, peri-procedural and post-procedural complications, quality of life, persistence, recurrence rates, and survival rates. Results are critically appraised and compared to the existing published evidence review.

Odontogenic Maxillary Sinusopathies: a Radiological Classification.

Purpose: Before implant surgery, a preoperative radiological evaluation is recommended for recognizing maxillary inflammatory conditions. In order to avoid a failure of the dental procedure and prevent medical-legal consequences, it is necessary to treat patients suffering of maxillary sinus pathologies. The classification proposed in our study aims to standardize the reference values for mucosal thickening and to verify their association with the odontogenic or disventilatory causes of sinus pathology. Methods: The maximum mucosal thickness was measured at the level of the maxillary sinus floor: mucosal thickness was present when greater than 1 mm and was classified according to its extension within the sinus cavity. Results: Imaging data of 270 adult patients were included, performed for dental diagnosis and treatment planning, and they were divided into four main classes: Class I (85 pt.), mucosal thickness lesser than 2 mm, not pathological. Class II A (52 pt.), mucosal thickness between 2 and 5 mm, localized to the maxillary sinus floor: it is still considered non-pathological, and a "wait-and-see" approach is recommended. Class II B (46 pt.), mucosal thickness greater than 5 mm but localized at sinus floor: pathological mucosa with odontogenic etiology, requiring dental treatment. Class III A (39 pt.), mucosa thicker than 5 mm and concentric, most likely due to sinus ventilation disfunction: it requires maxillary antrostomy. Class III B (30 pt.), sinonasal manifestations such as nasal polyposis, retention cysts, mucocele, dental foreign body: pathological mucosa to be treated with ESS. Class IV (12 pt.), oroantral fistula: nasal endoscopic or oral approach. Conclusions: Our classification intends to suggest the better therapeutic option, in case of sinus pathology, according to the entity and pathogenesis of the mucosal thickening, in order to reduce complication and failure rate of dental surgery.

Evidence of SARS-CoV-2 in nasal brushings and olfactory mucosa biopsies of COVID-19 patients.

The aim of the present study is to detect the presence of SARS-CoV-2 of patients affected by COVID-19 in olfactory mucosa (OM), sampled with nasal brushing (NB) and biopsy, and to assess whether a non-invasive procedure, such as NB, might be used as a large-scale procedure for demonstrating SARS-CoV-2 presence in olfactory neuroepithelium. Nasal brushings obtained from all the COVID-19 patients resulted positive to SARS-CoV-2 immunocytochemistry while controls were negative. Double immunofluorescence showed that SARS-CoV-2 positive cells included supporting cells as well as olfactory neurons and basal cells. OM biopsies showed an uneven distribution of SARS-CoV-2 positivity along the olfactory neuroepithelium, while OM from controls were negative. SARS-CoV-2 was distinctively found in sustentacular cells, olfactory neurons, and basal cells, supporting what was observed in NB. Ultrastructural analysis of OM biopsies showed SARS-CoV-2 viral particles in the cytoplasm of sustentacular cells. This study shows the presence of SARS-CoV-2 at the level of the olfactory neuroepithelium in patients affected by COVID-19. For the first time, we used NB as a rapid non-invasive tool for assessing a potential neuroinvasion by SARS-CoV-2 infection.

Vocal Outcomes in Vagus Nerve Stimulation: A Laryngeal Pattern-Based Objective Analysis.

The aim of our study is to evaluate objective and subjective vocal outcomes in patients undergoing vagus nerve stimulation (VNS) therapy for drug-resistant epilepsy and to assess the vocal outcome in the known laryngeal dysmotility patterns induced by VNS. We enrolled 16 adult patients without cognitive impairment who had undergone VNS implant for drug-resistant epilepsy at least 1 year prior. They were evaluated by flexible fibreoptic laryngeal examination and Voice Handicap Index questionnaire administration; acoustic and perceptual voice analysis was performed both at rest and during VNS activation. All recruited patients were admitted to the study. The VNS implant systematically determined laryngeal motility alterations, which were in turn mirrored by perceptual, subjective, and/or acoustic analysis voice alterations in all patients. Patients with intact vocal fold function at rest performed worse during acoustic voice analysis in terms of jitter during VNS activation and shimmer at rest when compared to other laryngeal patterns (P= 0.027 and P = 0.034, respectively, Kruskal-Wallis test). Furthermore, VNS activation determined an overall worsening of the perceptual and acoustically analysed voice quality: the grade of hoarseness, instability and breathiness parameters of the GRBASI (grade, roughness, breathiness, asthenia, strain, instability) scale and the jitter, shimmer and noise-to-harmonic ratio of the acoustic analysis worsened significantly during VNS activation (P = 0.001, P = 0.021, P = 0.012, P < .001, P = 00.002, P = 0.039, respectively, Wilcoxon test). According to our results, the VNS implant determines a significantly impaired vocal outcome that has a surprisingly mild impact on Voice Handicap Index scores. Such impairment is significantly greater in patients with intact vocal fold function at rest.

Adenoidectomy for middle ear disease in cleft palate children: a systematic review.

PURPOSE: Cleft palate children have a higher incidence of otitis media with effusion, more frequent recurrent acute otitis media episodes, and worse conductive hearing losses than non-cleft children. Nevertheless, data on adenoidectomy for middle ear disease in this patient group are scarce, since many feared worsening of velopharyngeal insufficiency after the procedure. This review aims at collecting the available evidence on this subject, to frame possible further areas of research and interventions. METHODS: A PRISMA-compliant systematic review was performed. Multiple databases were searched with criteria designed to include all studies focusing on the role of adenoidectomy in treating middle ear disease in cleft palate children. After duplicate removal, abstract and full-text selection, and quality assessment, we reviewed eligible articles for clinical indications and outcomes. RESULTS: Among 321 unique citations, 3 studies published between 1964 and 1972 (2 case series and a retrospective cohort study) were deemed eligible, with 136 treated patients. The outcomes were positive in all three articles in terms of conductive hearing loss improvement, recurrent otitis media episodes reduction, and effusive otitis media resolution. CONCLUSION: Despite promising results, research on adenoidectomy in treating middle ear disease in the cleft population has stopped in the mid-Seventies. No data are, therefore, available on the role of modern conservative adenoidectomy techniques (endoscopic and/or partial) in this context. Prospective studies are required to define the role of adenoidectomy in cleft children, most interestingly in specific subgroups such as patients requiring re-tympanostomy, given their known risk of otologic sequelae.

Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1).

INTRODUCTION: Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. However, etiopathogenetic mechanisms of auditory dysfunction are still not completely understood and it has been suggested that it could be assigned to a cochlear alteration that is present even in those subjects with a normal pure tonal audiometry (PTA) examination. METHODS: We found out the cochlear function in 26 patients with molecular diagnosis of FSHD1 and in healthy controls. All patients underwent complete neurological and audiological examinations, including FSHD clinical score, pure-tone audiometry (PTA), and otoacoustic emissions (OAEs), in particular transient evoked otoacoustic emissions (TEOAEs) and distortion product evoked otoacoustic emissions (DPOAEs). RESULTS: All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only subjects with a normal PTA or a mild muscular involvement (FSHD score ≤ 2). No correlation between OAEs and FSHD clinical score was found. DISCUSSION: Cochlear echoes represent a sensitive tool in detecting subclinical cochlear dysfunction in FSHD1 even in subjects with normal hearing and/or subtle muscle involvement. Our study is focused on the importance of evaluating the cochlear alteration through OAEs and, in particular, by performing TEOAEs and DPOAEs sequentially, to evaluate more frequent specificities of cochlear dysfunction with a wider spectrum of analysis.

Pharyngolaryngeal spasm-induced dysphagia in an epileptic patient undergoing vagus nerve stimulation therapy.

Vagus nerve stimulation for refractory epilepsy may induce laryngeal side effects such as dysphonia and dysphagia. Careful tuning of the stimulation parameters and collaboration between epileptologists and otolaryngologists can help significantly reduce side effects.