Clinical Application of Pediatric Sleep Endoscopy: An International Survey.

OBJECTIVES: To investigate through an international survey the actual clinical application of drug-induced sleep endoscopy (DISE) in pediatric patients with obstructive sleep apnea (OSA) and to clarify the use, application, clinical indications, and protocol of pediatric DISE. METHODS: A specific survey about pediatric DISE was initially developed by five international otolaryngologists with expertise in pediatric sleep apnea and drug-induced sleep endoscopy and was later spread to experts in the field of sleep apnea, members of different OSA-related associations. RESULTS: A total of 101 participants who answered all the survey questions were considered in the study. Sixty-four sleep apnea experts, equivalent to 63.4% of interviewed experts, declared they would perform DISE in pediatric OSA patients. A total of 81.9% of responders agreed to consider the DISE as the first diagnostic step in children with persistent OSA after adenotonsillectomy surgery, whereas 55.4% disagreed with performing DISE at the same time of scheduled adenotonsillectomy surgery to identify other possible sites of collapse. In the case of young patients with residual OSA and only pharyngeal collapse during DISE, 51.8% of experts agreed with performing a velopharyngeal surgery. In this case, 27.7% disagreed and 21.4% were neutral. CONCLUSION: Pediatric DISE is internationally considered to be a safe and effective procedure for identifying sites of obstruction and collapse after adenotonsillectomy in children with residual OSA. This is also useful in cases of patients with craniofacial malformations, small tonsils, laryngomalacia or Down syndrome to identify the actual site(s) of collapse. Despite this evidence, our survey highlighted that pediatric DISE is not used in different sleep centers.

A Retrospective Multicenter Italian Analysis of Epidemiological, Clinical and Histopathological Features in a Sample of Patients with Acinic Cell Carcinoma of the Parotid Gland.

BACKGROUND: The acinic cell carcinoma (AciCC) of the parotid gland is a rare tumor with an indolent behavior; however, a subgroup of this tumor presents an aggressive behavior with a tendency to recur. The aim of this multicenter study was to identify and stratify those patients with AciCC at high risk of tumor recurrence. METHODS: A retrospective study was carried out involving 77 patients treated with surgery between January 2000 and September 2022, in different Italian referral centers. Data about tumor characteristics and its recurrence were collected. The histological specimens and slides were independently reviewed by a senior pathologist coordinator (L.C.) and the institution's local head and neck pathologist. RESULTS: The patients' age average was 53.6 years, with a female prevalence in the group. The mean follow-up was 67.4 months (1-258, SD 59.39). The five-year overall survival (OS) was 83.2%. The 5-year disease-free survival (DFS) was 60% (95% CI 58.2-61.7). A high incidence of necrosis, extraglandular spread, lymphovascular invasion (LVI), atypical mitosis, and cellular pleomorphism was observed in the high-risk tumors compared to the low-risk ones. CONCLUSION: AciCC generally had an indolent behavior, optimal OS, DFS with few cervical node metastases, and rare distant relapses. This multicenter retrospective case series provides evidence of the need for clinical-epidemiological-histological stratification for patients at risk of poor outcomes. Our results suggest that the correct definition of high-risk AciCC should include tumor size, the presence of necrosis, extraglandular spread, LVI, atypical mitosis, and cellular pleomorphism.

QoL Following Dacryocystorhinostomy: Linguistic Adaptation of Italian Version of GBI.

The Glasgow Benefit Inventory (GBI) is a generic patient recorded outcome measure assessing the quality of life of patients undergoing ear nose and troth surgery. Although largely used in the clinical practice, it has never been adapted and validated in the Italian language. The aim of the study was to translate the original GBI from English to Italian and to examine its reliability for use in the Italian adult population of patients undergoing endonasal endoscopic dacryocystorhinostomy. After translation and back-translation of the original English we evaluated the reliability of GBI for use in 79 Italian adults undergoing dacryocystorhinostomies. Reliability of GBI-IT was examined by the internal consistency of the scale (using the Cronbach's alpha coefficient), and by the test-retest analysis. The GBI-IT showed adequate internal consistency (Cronbach's alpha = 0.85 for the total scale). The total GBI-IT score showed a strong correlation in retests (CCC 0.87). In conclusion, our study showed that the GBI-IT has satisfactory internal consistency and reliability and is equivalent to the original English version. In addition, it can be considered a valuable measure for both clinical and research uses.

Patient safety implications of wearing a face mask for prevention in the era of COVID-19 pandemic: a systematic review and consensus recommendations.

In the past, the use of face masks in western countries was essentially limited to occupational health. Now, because of the COVID-19 pandemic, mask-wearing has been recommended as a public health intervention. As potential side effects and some contraindications are emerging, we reviewed the literature to assess the impact of them in daily life on patient safety and to provide appropriate guidelines and recommendations. We performed a systematic review of studies investigating physiological impact, safety, and risk of masks in predefined categories of patients, which have been published in peer-reviewed journals with no time and language restrictions. Given the heterogeneity of studies, results were analyzed thematically. We used PRISMA guidelines to report our findings. Wearing a N95 respirator is more associated with worse side effects than wearing a surgical mask with the following complications: breathing difficulties (reduced FiO2, SpO2, PaO2 increased ETCO2, PaCO2), psychiatric symptoms (panic attacks, anxiety) and skin reactions. These complications are related to the duration of use and/or disease severity. Difficulties in communication is another issue to be considered especially with young children, older person and people with hearing impairments. Even if benefits of wearing face masks exceed the discomfort, it is recommended to take an "air break" after 1-2 h consecutively of mask-wearing. However, well-designed prospective studies are needed. The COVID-19 pandemic could represent a unique opportunity for collecting large amount of real-world data.

Endoscopic endonasal approach for infradiaphragmatic craniopharyngiomas: a multicentric Italian study.

OBJECTIVE: Infradiaphragmatic craniopharyngiomas (ICs) represent a distinct subtype, harboring a sellar-suprasellar origin and generally growing in the extra-arachnoidal space contained by the diaphragma sellae. They have been considered ideal for surgical removal through the transsphenoidal approach since the 1960s. The authors present a multicentric national study, intending to selectively analyze IC behavior and the impact of the transsphenoidal endoscopic endonasal approach (EEA) on surgical outcomes. METHODS: Craniopharyngiomas that were intraoperatively recognized as infradiaphragmatic and removed with standard EEA between 2000 and 2021 at 6 Italian neurosurgical departments were included in the study. Clinical, radiological, and surgical findings and outcomes were evaluated and reviewed. RESULTS: In total, 84 patients were included, with 45.23% identified as pediatric cases and 39.28% as having recurrent tumors. The most common presenting symptoms were endocrine (75%), visual (59.52%), and hypothalamic (26.19%) disorders. ICs were classified as extending below (6 intrasellar and 41 occupying the suprasellar cistern) or above (26 obliterating the anterior recesses of the third ventricle and 11 extending up to the foramina of Monro) the chiasmatic cistern. Gross-total resection (GTR) was achieved in 54 cases (64.28%). Tumor extension above the chiasmatic cistern and calcifications were associated with lower likelihood of GTR. The cumulative rate of postoperative complications was 34.53%, with CSF leak being the most common (14.28%). Endocrine, visual, and hypothalamic functions deteriorated postoperatively in 41/78 patients (52.56%), 5/84 (5.95%), and 14/84 (16.67%), respectively. Twenty-eight patients (33.33%) had recurrence during follow-up (mean 63.51 months), with a mean 5-year progression-free survival (PFS) rate of 58%. PFS was greater in patients who achieved GTR than patients with other extent of resection. CONCLUSIONS: This is the largest series in the literature to describe ICs removed with standard EEA, without the need for additional bone and dural opening over the planum sphenoidale. EEA provides a direct route to ICs, the opportunity to manage lesions extending up to the third ventricle without breaching the diaphragma, and high rates of GTR and satisfactory clinical outcomes. Increased surgical complexity and morbidity should be expected in patients with extensive suprasellar extension and involvement of the surrounding vital neurovascular structures.

Acinic cell carcinoma of the parotid gland: Timeo Danaos et dona ferentes? A multicenter retrospective analysis focusing on survival outcome.

OBJECTIVES: To analyze the demographic data, surgical and adjuvant treatment data and the survival outcomes in adult patients affected by acinic cell carcinoma of the parotid gland (AciCC). METHODS: A retrospective multicenter analysis of patients treated for AciCC of the parotid gland from 2000 to 2021 was performed. Exclusion criteria were pediatric (0-18 years) patients, the absence of follow-up and patients with secondary metastatic disease to the parotid gland. Multivariable logistic regression was used to determine factors associated with survival. RESULTS: The study included 81 adult patients with AciCC of the parotid gland. The median age was 46.3 years (SD 15.81, range 19-84 years), with a gender female prevalence (F = 48, M = 33). The mean follow-up was 77.7 months (min 4-max 361, SD 72.46). The 5 years overall survival (OS) was 97.5%. The 5 years disease-free survival (DFS) was 60%. No statistical differences have been found in prognosis for age (< 65 or ≥ 65 years), sex, surgery type (superficial vs profound parotid surgery), radicality (R0 vs R1 + Rclose), neck dissection, early pathologic T and N stages and adjuvant therapy (p > 0.05). CONCLUSION: This study did not find prognostic factor for poorest outcome. In contrast with the existing literature, our results showed how also high-grade tumours cannot be considered predictive of recurrence or aggressive behaviour.

Quality of Life with Voice Prosthesis after Total Laryngectomy.

INTRODUCTION: The loss of voice after total laryngectomy is one of the main impairments in personal and social life. In order to prevent potential psycho-social consequences in the patient and his family, the restoration of phonatory function is the main objective of post-laryngectomy rehabilitation. The aim of this study was to assess quality of life in patients who received prosthetic voice after total laryngectomy. MATERIALS AND METHODS: Over a one-year period, 51 patients with voice prostheses after total laryngectomy were recruited. 32 patients (62.74%) were administered radiation therapy and 9 patients (17.64%) underwent to surgical reconstruction with flaps. Each patient was administered the VHI-10 and V-RQOL self-assessment questionnaires. RESULTS: The study showed that vocal restoration with voice prosthesis allows patients to recover a significant degree of quality of life after total laryngectomy. The average score on the V-RQOL questionnaire was 75.9 and on the VHI-10 questionnaire was 13.5. It has not been shown a statistically significant correlation between quality of life after tracheoesophageal prosthesis and radiation therapy, chemotherapy or reconstruction flaps. Younger patients showed, on average, a higher score at V-RQOL. These results allow to state that, after prosthetic rehabilitation, at least 75% of patients experienced an increase in quality of life. Moreover, the prosthetic technique (primary vs secondary) does not affect the long-term outcome and radiotherapy, chemotherapy or reconstruction flaps are not absolute contraindications to rehabilitation with voice prosthesis. CONCLUSION: After total laryngectomy, rehabilitation with tracheoesophageal prosthesis is a satisfactory choice to restore the patient's ability to communicate verbally.

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.

Hearing loss (HL) affects 1-3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases. Excluding GJB2 and GJB6, OTOA is one of the leading genes associated with autosomal recessive non-syndromic HL. Allelic heterogeneity linked to OTOA also includes genomic rearrangements facilitated by non-allelic homologous recombination with the neighboring OTOAP1 pseudogene. We present a couple of Italian siblings affected by moderate to severe sensorineural hearing loss (SNHL) due to compound heterozygosity at the OTOA locus. Multigene panel next-generation sequencing identified the c.2223G>A, p.(Trp741*) variant transmitted from the unaffected mother. Assuming the existence of a second paternal deleterious variant which evaded detection at sequencing, genomic array analysis found a ~150 Kb microdeletion of paternal origin and spanning part of OTOA. Both deleterious alleles were identified for the first time. This study demonstrates the utility of an integrated approach to solve complex cases and allow appropriate management to affected individuals and at-risk relatives.

Trismus and TMJ disorders as first clinical manifestations in an intracranial acquired cholesteatoma.

Intracranial extension of acquired cholesteatoma is a rare occurrence that can develop secondary to trauma, chronic otitis media or acquired aural cholesteatoma. The most commonly observed symptoms are headache and hearing loss. The authors report on a rare case of intracranial cholesteatoma presenting with atypic symptoms: swelling and temporomandibular joint disorders.

Is 2020 the golden year of Otolaryngology research? The impact of COVID-19 on the Italian academic production.

BACKGROUND AND AIM: The aim of this research was to review the articles published by the Otolaryngology (ORL) departments of the Italian University Hospitals in 2019 and in 2020 in order to analyze the impact of the COVID-19 pandemic on the academic production. METHODS: PubMed and Scopus were searched for the articles published by the ORL departments of the Italian Universities in 2019 and in 2020. The main eligibility criteria were English-language articles, while there were no exclusion criteria related to topic. The articles were classified into seven domains corresponding to the main ORL subspecialties. RESULTS: There was an overall increase in the number of articles by the 42.2% in 2020. Publications pertaining Rhinology and Laryngology increased more significantly in 2020, respectively by the 50.5% and 72.2%. Additionally, there was an increase in the number of articles concerning topics of general interest, by the 95.2% in 2020. Also, the citation trends of the articles published by the Italian University Hospitals increased remarkably in 2020. CONCLUSIONS: These results evidenced an overall increase in the number of ORL articles. Although 2020 is going to be remembered as a year to forget, it should be acknowledged for being the "golden year of research".

Managing head and neck cancer patients during the COVID-19 pandemic: the experience of a tertiary referral center in southern Italy.

BACKGROUND: The medical community has been deeply involved in fighting the Coronavirus disease 2019 (COVID-19) pandemic and, as a consequence, the care of non-COVID-19 patients has been impacted. However, the treatment of head and neck cancer patients is not deferrable, and an integrated strategy is required. The aim of the current article is to present the experience in the management of head and neck patients during the COVID-19 pandemic at the research hospital "Casa Sollievo della Sofferenza". This review contains replicable and widely usable instructions on how to avoid delays in the diagnosis and treatment of head and neck tumors and to ensure a gradual return to elective procedures. MAIN TEXT: The Head and Neck Department of the research hospital "Casa Sollievo della Sofferenza" includes an Otolaryngology and a Maxillofacial Surgery Unit, both of which deal with the diagnosis and treatment of benign and malignant pathologies of the head and neck, as well as urgent/emergent consultations and surgical procedures that necessitate time sensitive operative management, such as cochlear implantation (CI). Given these premises and the complexity of the Department, the "COVID-19 organizing protocol" of the research hospital "Casa Sollievo della Sofferenza" was divided into two phases in accordance with the different stages of the pandemic and the priority of treatment. Special attention was given to the medical surveillance of health care workers and hospitalized patients, to the organization of the outpatient clinic and the operating setting as well as to the implementation of telehealth systems. CONCLUSIONS: The COVID-19 pandemic is going to be a long-term situation with lasting effects on the public health and the entire society. Therefore, an efficient health care system has to adopt a double strategy: always being ready for a "new wave" of the pandemic and not forgetting non-COVID-19 patients, among whom head and neck cancer patients represent a priority. More than 1 year since the first outbreak in Wuhan, this review offers a unique and helpful perspective that incorporates awareness of the disease.

Polarized mitochondria as guardians of NK cell fitness.

Distinct metabolic demands accompany lymphocyte differentiation into short-lived effector and long-lived memory cells. How bioenergetics processes are structured in innate natural killer (NK) cells remains unclear. We demonstrate that circulating human CD56Dim (NKDim) cells have fused mitochondria and enhanced metabolism compared with CD56Br (NKBr) cells. Upon activation, these 2 subsets showed a dichotomous response, with further mitochondrial potentiation in NKBr cells vs paradoxical mitochondrial fission and depolarization in NKDim cells. The latter effect impaired interferon-γ production, but rescue was possible by inhibiting mitochondrial fragmentation, implicating mitochondrial polarization as a central regulator of NK cell function. NKDim cells are heterogeneous, and mitochondrial polarization was associated with enhanced survival and function in mature NKDim cells, including memory-like human cytomegalovirus-dependent CD57+NKG2C+ subsets. In contrast, patients with genetic defects in mitochondrial fusion had a deficiency in adaptive NK cells, which had poor survival in culture. These results support mitochondrial polarization as a central regulator of mature NK cell fitness.

PIK3CA somatic mutation in sinonasal teratocarcinosarcoma.

Sinonasal Teratocarcinosarcoma (SNTCS) is a rare and histologically heterogeneous tumor of uncertain origin and unknown molecular pathogenesis. Its location and aggressiveness, with frequent recurrences, high rate for metastasis and short mean survival, make SNTCS a tumor highly difficult to treat. Thus, the identification of underlying genetic changes could potentially provide successful adjuvant or alternative precision medicine treatment options for patients with this tumor. We report here a 55-year-old male with a naso-ethmoidal SNTCS that invaded right maxillary sinus, orbital cavity and cranial anterior fossa and that was treated with surgery followed by radiotherapy and chemotherapy in which we evaluated the mutational profile by multigene panel sequencing. Tumor and adjacent normal mucosa were screened for hotspots and targeted regions of 22 cancer related genes by multigene panel sequencing. The analysis revealed a somatic pathogenic mutations in the PIK3CA gene (p.His1047Leu) and a germline alteration in the DDR2 gene (p.Pro476Leu) whose oncogenic function is considered unknown. This study suggests the involvement of PIK3CA gene mutation in SNTCS tumorigenesis highlighting a potential target for individualized molecular therapy for patients with this tumor.

Pott's Puffy Tumor and Intranasal Cocaine Abuse.

Pott's puffy tumor (PPT) is a rare subperiosteal abscess of the frontal bone with osteomyelitis, which most commonly affects adolescents as a complication of frontal sinusitis or head trauma. The Authors describe a case of development of a PPT in a woman who abused of cocaine for at least five years and presented with a gradually enlarging mass of the forehead. The patient was treated surgically through combined endoscopic and open approach and medically with antibiotic therapy. The PPT, as rare complication of intranasal cocaine abuse, was described until now in four patients. Even rare it can be a fearsome complication, making of fundamental importance an early diagnosis and a correct management.