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Heterotopia, the occurrence of specific tissues in ectopic sites during embryogenesis, includes the presence of salivary gland tissue in unusual locations. Salivary gland neoplasms arising from heterotopic sites are rare. Secretory Carcinoma (SC) is a rare salivary gland carcinoma characterized by ETV6-NTRK3 fusion gene, very rarely described in salivary gland heterotopia. Here a case of SC originating from salivary gland heterotopia in a neck lymph node is reported, together with a literature review.A 66-year-old male presented with a left neck mass. Imaging and fine needle aspiration cytology indicated a preliminary diagnosis of a benign/low-grade malignancy neoplasm.Following surgery (superficial parotidectomy and mass excision), histological examination revealed SC within an intranodal salivary heterotopia, confirmed by molecular analysis.Heterotopic salivary gland tissue (HSGT) is rare, and its association with neoplasms is even rarer. Tumours arising on HSGT, share histological similarities with those affecting orthotopic salivary glands. This unique case expands the understanding of SC occurrences on HSGT., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecularly classify 17 unrelated Italian patients referred with congenital nonsyndromic ichthyosis, we performed massively parallel sequencing of over 50 ichthyosis-related genes. Genetic data of 300 Italian unaffected subjects were also analyzed to evaluate frequencies of putative disease-causing alleles in our population. For all patients, we identified the molecular cause of the disease. Eight patients were affected by autosomal recessive congenital ichthyosis associated with ALOX12B , NIPAL4 , and TGM1 mutations. Three patients had biallelic loss-of-function variants in FLG , whereas 6/11 males were affected by X-linked ichthyosis. Among the 24 different disease-causing alleles we identified, 8 carried novel variants, including a synonymous TGM1 variant that resulted in a splicing defect. Moreover, we generated a priority list of the ichthyosis-related genes that showed a significant number of rare and novel variants in our population. In conclusion, our comprehensive molecular analysis resulted in an effective first-tier test for the early classification of ichthyosis patients. It also expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides new insight into the current understanding of etiologies and epidemiology of this group of rare disorders.

The prognostic impact of tumor volume and tumor sphericity was analyzed in 95 patients affected by oral cancer. The pre-operative computed tomography (CT) scans were used to segment the tumor mass with threshold tools, obtaining the corresponding volume and sphericity. Events of recurrence and tumor-related death were detected for each patient. The mean follow-up time was 31 months. A p -value of 0.05 was adopted. Mean tumor volume resulted higher in patients with recurrence or tumor-related death at the Student's t -test (respectively, 19.8 cm 3 vs. 11.1 cm 3 , p = 0.03; 23.3 cm 3 vs. 11.7 cm 3 , p = 0.02). Mean tumor sphericity was higher in disease-free patients (0.65 vs. 0.59, p = 0.04). Recurrence-free survival and disease-specific survival were greater for patients with a tumor volume inferior to the cut-off values of 21.1 cm 3 (72 vs. 21 months, p < 0.01) and 22.4 cm 3 (85 vs. 32 months, p < 0.01). Recurrence-free survival and disease-specific survival were higher for patients with a tumor sphericity superior to the cut-off value of 0.57 (respectively, 49 vs. 33 months, p < 0.01; 56 vs. 51 months, p = 0.01). To conclude, tumor volume and sphericity, three-dimensional parameters, could add useful information for better stratification of prognosis in oral cancer.

Objective: This study aims to prospectively compare endoscopic, radiological, and pathological features of a cohort of patients with glottic laryngeal squamous cell carcinoma (LSCC) undergoing open partial horizontal laryngectomy (OPHL) type II/III or total laryngectomy to better understand the reliability of preoperative endoscopy and computed tomography (CT) to predict the inferior paraglottic space (iPGS) involvement., Methods: We prospectively compared the endoscopic, radiological, and pathological findings in patients with glottic LSCC who underwent OPHL II/III, or total laryngectomy., Results: Endoscopy achieved a diagnostic accuracy of 87.2% for the anterior iPGS (iPGSa) and 86.1% for the posterior iPGS (iPGSp). There was no statistically significant difference in terms of histopathologic iPGSa involvement between reduced (85%-17/20 pts) and absent (92%-24/26 pts) vocal cord mobility (p = 0.39). CT alone did not improve the diagnostic performance of the endoscopy, reaching a diagnostic accuracy of 62.9% and 73.7% for the iPGSa and iPGSp, respectively. When endoscopy and CT were combined, the diagnostic performance improved for the iPGSp, achieving a sensitivity (Se), specificity (Spe), positive predictive value (PPV), and negative predictive value (NPV) of 100%, 89.8%, 68.7%, and 100%, respectively. On the contrary, the combination of CT and endoscopy improved only the Se and NPV for the iPGSa with respect to the sole endoscopic assessment., Conclusions: Whenever motility impairment is present, a histopathologic invasion of the iPGS should be suspected. Endoscopic assessment of laryngeal motility achieved a satisfactory value of Se, Spe, PPV, and NPV in predicting the involvement of the iPGS. CT scan is still the mainstay imaging technique in the clinical staging of patients with LSCC., Level of Evidence: 4 Laryngoscope, 133:1184-1190, 2023., (© 2022 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.)

We are recently faced with a progressive evolution of the therapeutic paradigm for radioiodine refractory differentiated thyroid cancer (RAI-R DTC), since the advent of tissue agnostic inhibitors. Thus, tumor genotype assessment is always more relevant and is playing a crucial role into clinical practice. We report the case of an elderly patient with advanced papillary thyroid carcinoma (PTC) harboring RET-CCDC6 fusion with four co-occurring mutations involving PI3KCA , TP53 , and hTERT mutations, treated with pralsetinib under a compassionate use program. Despite the high histological grade and the coexistence of aggressive RET co-mutations, an impressive metabolic and structural tumor response has been obtained, together with a patient's prolonged clinical benefit. A timely comprehensive molecular testing of those cases wild-type for the common thyroid carcinoma BRAF V600E-like and RAS -like driver mutations may uncover actionable gene rearrangements that can be targeted by highly selective inhibitors with great potential benefit for the patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Nannini, Repaci, Ricco, Ianni, Golemi, Maiolo, Ferrari, Natali, Rizzini, Monari, Solaroli, De Leo, Maloberti, Pantaleo, De Biase and Tallini.)

Purpose: The persistent left superior vena cava (PLSVC) is usually asymptomatic and creates a challenge when detected incidentally during cardiac resynchronization therapy defibrillator (CRT-D) implantation. The purpose of our cases is to show different anatomical variables of PLSVC and different strategies used for CRT-D implantation., Methods: Four cases of PLSVC were presented. Pre-procedural bilateral venography was done to define anatomical variant of PLSVC. The side of approach and vein of approach were chosen according to the anatomical variant. Major challenges, electrical parameters, procedural times, long-term follow up, and complications were addressed., Results: Two cases were de novo CRT-D implantation. One case was an extraction/re-implantation of the coil lead, and one case was an upgrading. In one case, CRT-D implantation was followed by AVN ablation. All cases had successful devices implantation. Two cases had isolated PLSVC: one of them had right approach and the other had left approach. One case had double SVC with no connecting brachiocephalic veins and underwent a left-sided approach. One case had double SVC with a small connecting brachiocephalic vein and had a left approach for implantation with using the small brachiocephalic vein for the RV lead. Electrical parameters were acceptable for all leads implanted. Long-term follow-up was done for 6 months to 5 years. One complication occurred (acute atrial lead dislodgement)., Conclusions: In our case series, the presence of PLSVC did not preclude successful placement of pacemaker/defibrillator leads using standard tools. Bilateral venography helped to decide the side and vein of lead insertion., (© 2020. Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: Predictors of difficulty and complications of transvenous lead extraction (TLE) have been investigated in several studies; however, little is known about the venous anatomical characteristics that can have an impact on procedural outcomes. Among them, the persistent left superior vena cava (PLSVC) is a common anomaly often discovered incidentally during cardiac device implantation and could raise concerns if TLE is indicated. We report technical considerations and outcomes of TLE for two patients with leads implanted via PLSVC., Methods and Results: Two cardiac implantable electronic device recipients with isolated PLSVC required TLE due to infective endocarditis in one case and lead failure in the other. In the first case, TLE procedure was performed in a hybrid operating room with minimally invasive video-assisted thoracoscopic monitoring due to the high procedural risk. Two active fixation 20-year-old pacing leads were removed with a relatively short fluoroscopy time. In the second case, we successfully extracted a single-coil active fixation lead without the need of a locking stylet or advanced extraction tools. There were no procedural complications or adverse events at 1-year follow-up., Conclusion: TLE procedures for two patients with isolated PLSVC were successfully completed with less difficulty and tools than expected based on the characteristics of the targeted leads. If indicated, TLE in the presence of a PLSVC should be considered in experienced centers., (© 2021 Wiley Periodicals LLC.)

Purpose: To correlate objective measures of audio-vestibular function with superior canal dehiscence (SCD) size and location in ears with SCD and compare results with literature., Methods: We retrospectively evaluated 242 patients exhibiting SCD and/or extremely thinned bone overlying superior canals (SC) on CT scans and selected 73 SCD patients (95 ears with SCD). Data concerning audiometry, impedance audiometry, video-head impulse test (vHIT), cervical vestibular-evoked myogenic potentials (cVEMPs) and ocular VEMPs (oVEMPs) to air- (AC) and bone-conducted (BC) stimuli were collected for each pathologic ear and correlated with dehiscence size and location., Results: AC pure-tone average (PTA) (p = 0.013), low-frequency air-bone gap (ABG) (p  < 0.001), AC cVEMPs amplitude (p = 0.002), BC cVEMPs amplitude (p < 0.001) and both AC and BC oVEMPs amplitude (p < 0.001) positively correlated with increasing SCD size. An inverse relationship between dehiscence length and both AC cVEMPs and oVEMPs thresholds (p < 0.001) and SC vestibulo-ocular reflex (VOR) gain (p < 0.001) was observed. Dehiscences at the arcuate eminence (AE) exhibited lower SC VOR gains compared to SCD along the ampullary arm (p = 0.008) and less impaired BC thresholds than dehiscences at the superior petrosal sinus (p = 0.04)., Conclusion: We confirmed that SCD size affects AC PTA, ABG and both amplitudes and thresholds of cVEMPs and oVEMPs. We also described a tendency for SC function to impair with increasing SCD size and when dehiscence is located at the AE. The latter data may be explained either by a spontaneous canal plugging exerted by middle fossa dura or by a dissipation through the dehiscence of mechanical energy conveyed to the endolymph during high-frequency impulses.

Background: A wish to die is common in elderly people. Concerns about death wishes among the elderly have risen in Ghana, where the ageing transition is comparable to other low-and middle-income countries. However, nationally representative research on death wishes in the elderly in the country is not readily available. Our study aimed to assess the determinants of the wish to die among the elderly in Ghana., Methods: We analysed data from the World Health Organisation Global Ageing and Adult Health Survey, Wave 1 (2007-2008) for Ghana. Data on the wish to die, socio-demographic profiles, health factors and substance abuse were retrieved from 2147 respondents aged 65 and above. Ages of respondents were categorised as 65-74 years; 75-84 years; 85+ to reflect the main stages of ageing. Logistic regression models were fitted to assess the association between these factors and the wish to die., Results: Age, sex, place of residence, education, body mass index, hypertension, stroke, alcohol consumption, tobacco use, income, diabetes, visual impairment, hopelessness and depression had statistically significant associations with a wish to die. Older age cohorts (75-84 and 85+) were more likely to have the wish to die (AOR = 1.05, CI = 1.02-1.16; AOR = 1.48, CI = 1.22-1.94), compared to younger age cohorts (65-74 years). Persons who felt hopeless had higher odds (AOR = 2.15, CI = 2.11-2.20) of experiencing the wish to die as compared to those who were hopeful., Conclusions: In view of the relationship between socio-demographic (i.e., age, sex, education and employment), hopelessness, anthropometric (body mass index), other health factors and the wish to die among the elderly in Ghana, specific biopsychosocial health promotion programmes, including timely identification of persons at risk, for appropriate intervention (e.g., psychotherapy, interpersonal support, alcohol-tobacco cessation therapy, clinical help) to promote their wish for a longer life is needed.

Osteosarcoma of the jaws (OSJ) is a relatively rare disease, accounting for between 2% and 10% of all cases of osteosarcoma. It is morphologically and radiologically identical to the trunk and extremity variant, but distinct in several crucial aspects. The lesion is characterized by sarcomatous cells which produce a variable amount of osteoid bone. It arises centrally within the bone and can be subdivided into osteoblastic, chondroblastic and fibroblastic subtype, depending on the predominant cell type. Radiographically, these tumors display a spectrum of bone changes from well-demarcated borders to lytic bone destruction with indefinite margins and variable cortical bone erosion or, in some cases, images of sclerotic bone. Therapeutic options for OSJ include surgery, chemotherapy and radiotherapy, which are employed according to age of the patient, histological classification and localization of the tumor. Today, there is no general consensus in the treatment guidelines for the OSJ though surgery represents the key to the treatment. The main prognostic factor deeply influencing the patient's prognosis remains the complete tumor resection with negative surgical margins. The aim of the present review is to describe state of the art regarding diagnostic and surgical treatment aspects of the primary osteosarcoma of the jaws., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Theleadless pacemaker (LLPM) therapy has been developed in recent years to overcome the transvenous lead and device pocket-related complications. The LLPMs now available are self-contained right ventricular pacemakers and are limited to single-chamber ventricular pacing modality. This literature review deals with the current status of LLPM technology and current areas of clinical applicability. The safety and efficacy outcomes published from randomized clinical trials and real world registries are analyzed and compared with historical conventional transvenous pacemaker data. Furthermore, new pacing modalities and future perspectives to broaden the clinical use and cover most of pacing indications are discussed. Due to the overall safe and effective profile in the short term and intermediate term, also in fragile patients, the LLPM use is constantly growing in daily clinical practice. Actually, it can be considered a landmark innovation, through which a new era of cardiac pacing has begun., (© 2020 Wiley Periodicals LLC.)

Several papers have primarily considered a female disadvantage in mortality as something to explain, considering a male disadvantage to be a "natural condition". Even if, due to biological reasons, shorter life expectancy among males has been demonstrated, other factors need to be involved to explain firstly the increasing, and then the decreasing, of the male relative disadvantage over the past century. The principal aim of this paper is to provide a clearer picture of the major age-class and cause-of-death contributions to male excess mortality in England and Wales from 1881 to 2011. Results indicate a clear shift in contributions to the male disadvantage from differences occurring during the first year of life to those occurring in ageing people, and from tuberculosis, respiratory diseases, external causes and perinatal and congenital conditions to neoplasms and circulatory diseases. In contrast, the narrowing of the gap since 1981 seems to be most closely related to the decrease in the male disadvantage in respiratory diseases and to the simultaneous increasing in the female disadvantage in old-age diseases. The most important novelty of this research relates to the method: instead of using ratios to investigate gender differences in health, we use decomposition methods., Competing Interests: None., (© 2020 The Authors.)

Introduction: We present our pre-operative virtual planning of complex mandibular reconstruction with a microvascular fibular composite free flap and its harvesting using our novel cutaneous positioning guide based on the perforator vessels for our soft tissue reconstructive surgery., Technical Report: We applied our protocol to 42 consecutive patients needing mandibular composite reconstruction. All patients were preoperatively studied with a CTA scan to evaluate the fibular pattern of vascularization and the perforator vessels three-dimensional path and position. Computer assisted surgery (CAS) was performed: a skin paddle outlining guide (SPOG) was designed to reproduce the shape and area of the planned soft tissue resection. CTA measurements and in vivo findings were compared. After performing the CTA, we classified the viable perforators in High Perforators, Medium Perforators and Low Perforators. The average diameter of the perforator vessels was 3 mm. The average difference between the measurements performed on the CTA and the intra-operative measures was 1, 4 mm. The SPOG was based on calf proximal and distal diameters. The anatomical fitting of the guide was obtained thanks to two customized flanges that embrace circumferentially the proximal and distal portions of the leg. The SPOG encompassed appropriate skin/leg regions, allowing the surgeon to localise the required perforator vessel., Conclusions: CTA protocol appears to be a valuable approach to asses and virtually simulate composite mandibular reconstructions. The SPOG seems to be a valuable tool to reproduce intra-operatively the planned soft tissue area to be reconstructed., (Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Introduction: Mandibular reconstruction performed after virtual planning has become more common during recent years. The gold standard for extensive mandibular reconstruction is of course a fibular free flap. In designing an osteomyocutaneous fibula flap, poor planning, aberrant anatomy and/or inadequate perforator vessels are the most frequent causes of complications and may force the surgeon to modify the flap design, explore the contralateral leg or harvest an additional microvascular flap. The goal of our study was to pre-operatively evaluate the vascular anatomy of the fibula and localize the cutaneous perforator vessels, so to create the fibular cutting guide based on the position of the cutaneous perforator and safely harvest the reconstructive flap., Materials and Methods: Twenty consecutive patients who were candidates for mandibular reconstruction using a fibular microvascular free flap were enrolled in this study between January 2016 and August 2016. The patients were preoperatively assessed with a Computed Tomographic scan of head and neck and with a Computed Tomographic Angiography (CTA) scan of the lower limbs to evaluate the vascular anatomy of the fibula. Virtual planning was carried out for all patients. The fibular cutting guide was based on the position of the perforator cutaneous vessels, which were used to harvest the cutaneous part of the flap. Preoperative CT measurements were performed in order to identify the cutaneous perforators on the patients' skin. Intraoperative checking was performed to evaluate the accuracy of the perforators' position and the reproducibility of the virtual planning., Results: In 5 patients out of 20 (25%), anatomical anomalies were discovered, without clinical evidence. The perforator vessels were localized in all patients. The average difference between the CTA and the intraoperative perforator localization was 1 mm (range 0-2 mm). Fibular cutting guide was positioned and fitted the anatomy of the patients in all treated patients. This allowed us to perform the planned segmentation of the fibula, obtaining the correct number of segments. In all cases, flap insetting was carried out and skin paddle was positioned as preoperatively planned. Neither donor site complications nor flap complications occurred., Conclusions: Preoperative evaluation of the legs using CTA, in patients who undergo an osteomyocutaneous fibular free flap for mandibular reconstruction, is a valuable approach to reduce altered-anatomy related complications and to improve the accuracy and outcomes of the reconstruction, especially in reconstructions of complex defects. In these cases, a soft tissue-based cutting guide can be planned based on the perforator vessels of the skin paddle, minimizing the harvesting risks of vascular lesions. Further studies and longer follow-ups are needed to evaluate the long-term outcomes and advantages of this procedure., (Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Background: Although analysis of the Human papillomavirus (HPV) genotype spread in a particular area has a crucial impact on public health and prevention programmes, there is a lack of epidemiological data regarding HPV in the Calabria region of Italy. We therefore update information on HPV age/genotype distribution by retrospectively analysing a cohort of women, with and without cervical lesions, living in Calabria, who underwent HPV DNA testing; moreover, we also evaluated HPV age/genotype distribution in a subset of patients with cervical lesions., Methods: Cervical scrape specimens obtained from 9590 women (age range 20-75 years) from January 2010 to December 2015 were tested for HPV DNA. Viral types were genotyped by Linear Array HPV Genotyping® test (Roche, USA) at the Clinical Microbiology Operative Unit of six hospitals located in four provinces of the Calabria region. Cervical scrape specimens were also used to perform Pap smears for cytological analysis in a subset of 405 women; cytological classification of the samples was performed according to the Bethesda classification system., Results: A total of 2974 women (31%) (C.I. 95% 30.09-31.94) were found to be HPV DNA positive for at least one (57.3%) or several (42.7%) HPV genotypes. Of single genotype HPV infections, 46.5% and 36.4 % were classed as high-risk (HR, Group 1) and low-risk (LR, Group 3) respectively, while 16.9% were classed as probably/possibly carcinogenic and 0.2% undetermined risk. Stratified by age, total HPV distribution, showed the highest prevalence within the range 30-39 years (37.2%), while single genotype infection distribution displayed a peak in women from the age range 20-29 years (37.5%). The most common high-risk HPV type was HPV 16 (19.1%), followed by HPV 31 (9.1%)., Conclusions: We provide epidemiological data on HPV age/genotype distribution in women living in the Calabria region with or without cytological abnormalities, further to the enhancement of HPV screening/prevention programmes for the local population.

An electrochemical method for identifying indigoid, anthraquinonic, naphtoquinonic, flavonoid, pyrone, pyran, and other related dyes in microsamples from works of art is reported using the voltammetry of microparticles methodology. Products of solid state oxidation/reduction of dyes form a layer on the lateral faces of the dye crystals as suggested by ATR-FTIR and AFM data. This method is based on the sequential application of oxidative and reductive constant-potential polarization steps coupled with the record of square wave voltammograms to solid microsamples of dyes in contact with aqueous electrolytes., ((c) 2009 Elsevier B.V. All rights reserved.)