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Hemangiopericytoma is a rare tumor of the sino-nasal tract. Its clinical behavior is controversial. Whereas some describe an indolent course, others consider it to be an aggressive lesion with a tendency toward rapid local recurrence. Here, we describe our experience in the management of sino-nasal hemangiopericytoma (SN-HPC), comparing our experience with the current literature, and evaluating signs and tools to improve diagnosis and treatment.All cases of SN-HPC between 2010 and 2020 were extracted and reviewed from our institutional electronic medical records. SN-HPC cases from PubMed and EMBASE between 2010 and 2020 were analyzed in a systematic literature review using the preferred reporting items for systematic review and meta-analysis (PRISMA) guidelines. Data regarding demographics, presentation, diagnosis, treatment, and outcome were collected.We identified four cases of SN-HPC in the nasal cavity in our institution and an additional 53 cases in previous reports. The mean age at the time of diagnosis was 59 years, with a 1.2:1 male to female ratio. SN-HPC mostly appears unilaterally, arising in the ethmoid sinus (42.1%). The most common presenting symptoms were epistaxis (47.3) and nasal obstruction (47.3%). Both computed tomography (CT) and magnetic resonance imaging (MRI) were required for diagnosis and for tailoring the treatment plan. Endoscopic surgical excision was used in 85.9% of the patients, and in 15.7%, an additional preoperative embolization was performed, which was associated with septal necrosis in one patient (2.6%). The recurrence rate was 7%.Although previous reports attribute an aggressive tumoral behavior to SN-HPC, our experience and the literature review support a more indolent course with low recurrence rates following complete endoscopic resection. Preoperative embolization can be useful in certain cases, but due to potential complications, it should not be routinely indicated.

Molecular testing for thyroid nodules has been rapidly developed in recent years, aiming to predict the presence of malignancy and aggressive features. While commonly utilized to predict malignancy, its role in guiding the management approach is still developing. The high cost of genetic tests and long-term sequences of thyroid cancer is limiting to real-life studies. Objective: To evaluate the cost effectiveness of molecular testing for low-risk differentiated thyroid cancer (lrDTC). Methods: We developed a Markovian decision tree model of a simulated lrDTC cohort, comparing two management strategies: (I) Conducting genetic tests (GT)—patients are stratified into three risk groups for distant metastasis by the identified molecular markers: low-, intermediate- and high-risk molecular profile; followed by management accordingly: patients with low-risk will undergo hemithyroidectomy (HT), patients with intermediate-risk will undergo total thyroidectomy (TT), and high-risk patients will undergo TT with central neck dissection; (II) Without genetic tests (wGT)—all patients will undergo HT according to the ATA recommendations for lrDTC. Outcomes were measured as quality-adjusted life years (QALYs) and costs of each strategy. Results: GT was found as cost effective, leading to a gain of 1.7 QALYs with an additional cost of $327 per patient compared to wGT strategy. This yielded an incremental cost-effectiveness ratio of $190 per QALY. Sensitivity analysis demonstrated robust results across the variables’ ranges. The most impactful variable was the benefit from performing TT rather than HT for intermediate to high-risk patients. Conclusions: Our model found that molecular testing for lrDTC is cost-effective, allowing tailored management according to the patient’s personal risk level reflected in the genetic profile, hence improving outcomes.

Bicuspid aortic valve (BAV) is the most common valvular congenital heart disease, with a prevalence of 0.5 to 2% in the general population. Patients with BAV are at risk for developing cardiovascular complications, some of which are life-threatening. BAV has a wide spectrum of clinical presentations, ranging from silent malformation to severe and even fatal cardiac events. Despite the significant burden on both the patients and the health systems, data are limited regarding pathophysiology, risk factors, and genetics. Family studies indicate that BAV is highly heritable, with autosomal dominant inheritance, incomplete penetrance, variable expressivity, and male predominance. Owing to its complex genetic model, including high genetic heterogenicity, only a few genes were identified in association with BAV, while the majority of BAV genetics remains obscure. Here, we review the different forms of BAV and the current data regarding its genetics. Given the clear heritably of BAV with the potential high impact on clinical outcome, the clinical value and cost effectiveness of cascade screening are discussed.

Background: Given the good prognosis of low-risk papillary thyroid microcarcinomas (lrPTMCs) accurate risk stratification is valuable to optimize management: active surveillance vs. surgery. BRAFV600E testing was associated with increased recurrence risk, hence AS seems reasonable for mutation-negative lrPTMC. However, when considering AS, patient perception is highly important as adherence and emotional aspects are challenging. In this study, we aimed to model the contribution of BRAFV600E testing for the management of PTMCs when tailored to the patient perspective. Methods: We developed a Markovian model to predict the role of BRAFV600E in prioritizing between hemithyroidectomy (HT) and active surveillance (AS) for lrPTMCs. We used a simulated cohort of lrPTMCs, with probabilities of each strategy driven from previous literature. Outcomes were measured as quality-of-life years (QALYs). One- and two-way sensitivity analyses were conducted to ascertain model robustness. Results: We found that the optimal strategy (e.g., that would maximize QALYs) varies according to BRAFV600E status for patients without a preset predilection between AS to HT. Using one-way sensitivity analysis, we found that the two main variables that have the strongest impact on the decision are the utility of AS and the utility of a disease-free state after HT. Two-way sensitivity analysis demonstrated that BRAFV600E status can define the optimal strategy for patients in the middle zone of the utility range (e.g., patients without clear preference). Conclusions: Our model suggests that BRAFV600E status can facilitate decision-making regarding AS vs. HT for patients without preset predilection. Our model supports further real-life studies of BRAFV600E testing for PTMCs.

Despite several reports on the association between molecular profiling, aggressive histology, and clinical outcomes, the association between mutation expression and pre-operative cytology is yet to be demonstrated. Therefore, we performed a retrospective, single-center study, including all patients who underwent molecular profiling of thyroid nodules in Bethesda System for Reporting Thyroid Cytopathology (BSRTC) categories III to VI, between 2018 and 2019. Medical records were reviewed to collect demographics, cytology results according to BSRTC, final pathology (presence of malignancy and its type, as well as presence of aggressive features, including extrathyroidal extension, positive neck lymph nodes, and multifocality), and the identified genetic variants stratified by risk levels, according to the 2015 ATA guidelines. We supplemented this analysis with a systematic review to identify the variant distributions across the literature. We included data on 55 nodules from 48 patients for the final analysis. A significant positive correlation was found between BSRTC categories and the mutation risk level, shown by an increase in the intermediate to high-risk mutation rate in the higher BSRTC categories (Rs = 0.660, p ≤ 0.001). A significant positive correlation was also found between mutation risk levels and the presence of malignancy and aggressive tumor features (Rs = 0.637, p

Managing intermediate thyroid nodules remains challenging. The CUT score is an Italian metanalysis-based cytologic (SIAPEC-IAP) scoring system, designed to assist clinicians. However, it was never evaluated against the Bethesda system for reporting thyroid cytopathology (BSRTC). This study aims to validate its utility for BSRTC III and IV nodules in a non-Italian population. We collected all BSRTC III and IV thyroid nodules with a documented final pathology between 2010 and 2020. We calculated the C + U components of the CUT score using retrospective clinical (C) data collection and reevaluation of preoperative sonography (U) examination. The cytology (T) component which originally referred to the five-tiered SIAPEC-IAP cytologic classification was replaced by the corresponding BSRTC categories. Optimal test performances were calculated using receiver operating characteristic (ROC) curve analysis. Data were analyzed twice with considering of NIFTP as benign and as malignant. After exclusions, 62 nodules from 61 patients were included (50% BSRTC III, 50% BSRTC IV). Malignant nodules demonstrated a significantly higher C + U score compared with benign in both categories. The C + U cutoff value for BSRTC III was 5.25 (sensitivity and specificity of 69.23% and 66.67%, respectively, AUC = 0.72, p-value = 0.016), and 5.75 for BSRTC IV (sensitivity and specificity of 85.7% and 76.5%, respectively, AUC = 0.84, p-value

Mitral valve prolapse (MVP) is the most common primary valvular abnormality, associated with various degrees of incompetent function and sequelae, including heart failure and sudden cardiac death. Recent improvements in echocardiographic techniques and new insights into mitral valve anatomy and physiology have rendered the diagnosis of this condition more accurate and reliable. Here we review the genetic etiology, clinical significance, diagnosis, and treatment options for MVP patients.

Purpose Reliable visual field testing requires the tested eye to be fixated on a central target. This poses a major obstacle for eyes with severe central vision loss. This pilot study assesses whether it may be feasible to examine such patients with a modified method. Methods A green filter was placed over the fellow eye. A FASTPAC algorithm was used with a red stimulus. The green filter prevented transmission of the red stimuli but allowed visualization of the yellow fixation light. Subjects were tested by both the conventional and the novel method, performed in a randomized order. We compared the reliability indices and also the precision of the two methods. Results We present results from six patients. The novel method was associated with an 85% reduction in fixation losses (P=0.028) and a 58% reduction in eye motion on gaze tracking (P=0.007). Further, specialized testing in one of the volunteers demonstrated that the novel technique could more precisely define a small zone of preserved peripheral vision (P=0.008). Conclusion The results of this pilot study suggest that the novel method described may be a feasible strategy for visual field testing in patients with unilateral severe central vision loss.

Spontaneous neck hematoma is a rare yet potentially fatal complication of primary hyperparathyroidism (PHPT). Here we aim to describe novel presentations of neck hematomas secondary to PHPT, discussing tools and signs that facilitate diagnosis. Case series data were extracted by retrospective chart reviews of our institution's electronic medical records, including all neck hematoma cases from parathyroid origin between 2005 and 2020. Cases from PubMed and EMBASE between 1999 and 2020 were analyzed in a systematic literature review. Four patients were identified with five acute bleeding events, including a novel report of recurrent neck hemorrhage due to parathyroid adenoma. There was postmenopausal female predominance (75%), consistent with previous reports (72.7%). Common presentations included neck pain, dysphagia and hoarseness. All bleedings spread into the retropharyngeal space. Vocal cord paralysis was found in a single case and in 8.6% of the benign lesions in the reviewed cases. A single case presented with normal calcium levels (20% of bleeding episodes), in line with the reviewed cases (17.4%). A subtle CT sign of an enhancing area within the parathyroid gland, which led to the diagnosis, was identified in a single case. Conservative treatments were employed in 80% of our cases and in 51.5% of the reviewed cases, all being successful. Neck explorations performed after a 3-month waiting period from the acute event demonstrated better results compared to immediate surgery. A high suspicion index is needed, particularly in post-menopausal women, to reach a diagnosis and allow optimal management. Normal laboratory values do not exclude parathyroid etiology, yet assessment should include calcium and PTH levels along with targeted imaging. Since bleeding may recur, we suggest that PHPT complicated with neck hematoma should be an independent indication for definitive parathyroidectomy surgery. 3b

International audience; Bicuspid aortic valve (BAV) is a common congenital heart disease, with a 10-fold higher prevalence in first-degree relatives. BAV has different phenotypes based on the morphology of cusp fusion. These phenotypes are associated with different clinical courses and prognoses. Currently, the determinants of the valve phenotype are unknown. In this study we evaluated the role of genetics using familial cohorts. Patients with BAV and their first-degree relatives were evaluated by echocardiography. The concordance in BAV phenotype between pairs of family members was calculated and compared with the concordance expected by chance. We then performed a systematic literature review to identify additional reports and calculated the overall concordance rate. During the study period, 70 cases from 31 families and 327 sporadic cases were identified. BAV was diagnosed in 14% of the screened relatives. The proportions of the morphologies identified was: 12.3% for type 0, 66.2% for type 1-LR, 15.4% for type 1-RN, 4.6% for type 1-NL, and 1.5% for type 2. For the assessment of morphologic concordance, we included 120 pairs of first-degree relatives with BAV from our original cohort and the literature review. Concordance was found only in 62% of the pairs which was not significantly higher than expected by chance. In conclusion, our finding demonstrates intrafamilial variability in BAV morphology, suggesting that morphology is determined by factors other than Mendelian genetics. As prognosis differs by morphology, our findings may suggest that clinical outcomes may vary even between first-degree relatives.

Despite the important role of the community in the assessment and risk stratification of patients with thyroid nodules, evidence-based data on the Bethesda System for Reporting Thyroid Cytopathology (BSRTC) performance in community clinics is lacking. We aim to evaluate BSRTC performance of aspirations taken in community clinics compared with primary referral center.Patients who underwent thyroid surgery between 2013 and 2018 at our institution were divided according to the fine needle aspirations (FNA) settings: community FNA (cFNA) vs. institutional FNA (iFNA). Demographics, BSRTC results and final pathology were collected. Diagnostic values were calculated for BSRTC categories (sensitivity, specificity, positive predictive value [PPV], and negative predictive value [NPV]), and were compared between the groups.A total of 268 nodules were included in the study; 77% (207) cFNA and 23% (61) iFNA. Patients in the community were younger (51.7 ± 15.1 vs. 56.6 years±14.8, p = 0.03) and with less epidemiology risk factors for thyroid cancer (1.9% vs 13.1%, p 0.001). cFNA malignancy rate for BSRTC I-VI was 0%, 6.4%, 11.8%, 32.1%, 91.6% and 93.8% respectively. Best sensitivity was found for BSRTC III-VI in both groups (88% and 83%, cFNAs and iFNAs, respectively). Overall best performance was obtained for BSRTC V-VI for both groups (cfNA: 85%, 97%, 93%, 94% and 93%; iFNAs: 81%, 100%, 100%, 87% and 91%, for sensitivity, specificity, PPV, NPV and accuracy, respectively).Community-performed FNAs demonstrate acceptable BSRTC distribution and malignancy rates, comparable with a primary referral academic hospital. This supports the universality of the BSRTC 2017 and its recommendations also in the community.

Despite several reports on the association between molecular profiling, aggressive histology, and clinical outcomes, the association between mutation expression and pre-operative cytology is yet to be demonstrated. Therefore, we performed a retrospective, single-center study, including all patients who underwent molecular profiling of thyroid nodules in Bethesda System for Reporting Thyroid Cytopathology (BSRTC) categories III to VI, between 2018 and 2019. Medical records were reviewed to collect demographics, cytology results according to BSRTC, final pathology (presence of malignancy and its type, as well as presence of aggressive features, including extrathyroidal extension, positive neck lymph nodes, and multifocality), and the identified genetic variants stratified by risk levels, according to the 2015 ATA guidelines. We supplemented this analysis with a systematic review to identify the variant distributions across the literature. We included data on 55 nodules from 48 patients for the final analysis. A significant positive correlation was found between BSRTC categories and the mutation risk level, shown by an increase in the intermediate to high-risk mutation rate in the higher BSRTC categories (Rs = 0.660, p ≤ 0.001). A significant positive correlation was also found between mutation risk levels and the presence of malignancy and aggressive tumor features (Rs = 0.637, p 0.001 and Rs = 0.459, p = 0.006, respectively). This novel positive and significant correlation between BSRTC categories and the mutation risk level provides additional insight to aid clinicians in the interpretation of BSRTC results and may contribute to the discussion of appropriate management of thyroid nodule with patients.

Introduction Bicuspid aortic valve (BAV) is the commonest congenital heart valve defect, found in 1% to 2% of the general population and associated with life-threatening complications. Given the high heritability index of BAV, many experts recommend echocardiography for first-degree relatives (FDRs) of an index patient. However, the cost-effectiveness of such cascade screening for BAV has not been fully evaluated. Materials and methods Using a decision-analytic model, we performed a cost-effectiveness analysis of echocardiographic screening of FDRs of BAV index cases. Data on BAV probabilities and BAV complications among FDRs were derived from our institution's BAV familial cohort and from the relevant literature on population-based BAV cohorts with long-term follow-up. Health gain was measured as quality-adjusted life years (QALYs). Cost inputs were based on list prices and literature data. One-way and probabilistic sensitivity analyses were performed to account for uncertainty in the model's variables. Results and disscusion Screening of FDRs was found to be the dominant strategy, being more effective and less costly than no screening, with savings of €208 and gains of 1.6 QALYs. Results were sensitive to the full range of reported BAV rates among FDRs across the literature, with the benefit gradually decreasing from the screening age of 55 years, with trend shifting at the age of 69. Conclusions This economic evaluation model revealed that echocardiographic screening of FDRs of BAV index case is not only clinically important but also highly cost effective and cost-saving. Health gains could be achieved from initiating screening program, along with costs saving. Sensitivity analysis supported the model's robustness, suggesting its generalization. Funding Acknowledgement Type of funding sources: Public Institution(s). Main funding source(s): Center for Interdisciplinary Data Science Research fellowships grant

Despite increased risks of nasolacrimal duct obstruction (NLDO) with age, and the continuous growth of the old population proportion, data on endoscopic dacryocystorhinostomy (eDCR) among the old is lacking. This study aims to evaluate long-term eDCR efficacy and safety in the old and oldest-old population.A retrospective case-control study of patients aged 80 ≤ (oldest-old) and 65-79 (old) compared with younger controls who underwent eDCR, between 2002 and 2017. Pre-, intra- and postoperative factors were collected using an integrated hospital-community system. Success rates were analyzed and measured at the first visit following surgery (immediate success), and after five years. Demographics, comorbidities, complications rates, and outcomes were compared between the groups.The study groups included 52 oldest-old patients (mean age 83.4 ± 3.6), 127 old patients (72.3 ± 4.14) and 142 control patients (57.8 ± 18.0). The immediate and success rates were 94.2%, 93.7% and 90.8% and five-year success rates were 80.0%, 76.6% and 80% among oldest-old, old and controls, respectively. No significant differences in success rates were found, even despite higher comorbidity rates among the study's group (96 and 92.8% vs. 63.2%, among oldest-old, old and controls respectively, p 0.001). Intra- and postoperative complications rates were low in all groups.Among older population, including oldest-old and old, eDCR safety and long-term outcomes are comparable with younger patients, suggesting that eDCR should be offered to NLDO patients, regardless of age.

OBJECTIVE The 2017 revised Bethesda System for Reporting Thyroid Cytopathology (BSRTC) included new malignancy rates for each category as well as new management recommendations. Here, we evaluate the malignancy rate and test performance for BSRTC categories in a middle-sized institution outside the United States (US). DESIGN Retrospective single centre case series with chart review. PATIENTS All patients who underwent thyroid surgery with a preoperative BSRTC between the years 2010 and 2018 at our institution. MEASUREMENTS In order to assess the malignancy rate for each BSRTC, all medical records were reviewed to collect demographics, nodule's size, BSRTC and final pathology. RESULTS Three hundred and sixty-four patients were included, with an overall malignancy rate of 34.3%. The malignancy rate for BSRTC categories I-VI was as follows: 13.3%, 5.1%, 25.0%, 24.4%, 91.3% and 95.2%, respectively. The most sensitive test was when BSRTC III-VI were evaluated (91%). Overall best performance (sensitivity, specificity, PPV, NPV and accuracy) was obtained when BSRTC V-VI were grouped together with a substantial decrease when adding BSRTC III-IV (90%, 97%, 94%, 95%, 95% vs, respectively, 91%, 73%, 62%, 95%, 79%, respectively). CONCLUSIONS Despite differences from the reported 2017 BSRTC malignancy rates, we demonstrated that the revised 2017 BSRTC management recommendations for thyroid nodules are also valid in smaller non-US centre, supporting its use globally.

Purpose Reliable visual field testing requires the tested eye to be fixated on a central target. This poses a major obstacle for eyes with severe central vision loss. This pilot study assesses whether it may be feasible to examine such patients with a modified method. Methods A green filter was placed over the fellow eye. A FASTPAC algorithm was used with a red stimulus. The green filter prevented transmission of the red stimuli but allowed visualization of the yellow fixation light. Subjects were tested by both the conventional and the novel method, performed in a randomized order. We compared the reliability indices and also the precision of the two methods. Results We present results from six patients. The novel method was associated with an 85% reduction in fixation losses (P=0.028) and a 58% reduction in eye motion on gaze tracking (P=0.007). Further, specialized testing in one of the volunteers demonstrated that the novel technique could more precisely define a small zone of preserved peripheral vision (P=0.008). Conclusion The results of this pilot study suggest that the novel method described may be a feasible strategy for visual field testing in patients with unilateral severe central vision loss., Video Abstract Point your SmartPhone at the code above. If you have a QR code reader the video abstract will appear. Or use: https://youtu.be/QFUxAHyQQNc

Spontaneous neck hematoma is a rare yet potentially fatal complication of primary hyperparathyroidism (PHPT). Here we aim to describe novel presentations of neck hematomas secondary to PHPT, discussing tools and signs that facilitate diagnosis.Case series data were extracted by retrospective chart reviews of our institution's electronic medical records, including all neck hematoma cases from parathyroid origin between 2005 and 2020. Cases from PubMed and EMBASE between 1999 and 2020 were analyzed in a systematic literature review.Four patients were identified with five acute bleeding events, including a novel report of recurrent neck hemorrhage due to parathyroid adenoma. There was postmenopausal female predominance (75%), consistent with previous reports (72.7%). Common presentations included neck pain, dysphagia and hoarseness. All bleedings spread into the retropharyngeal space. Vocal cord paralysis was found in a single case and in 8.6% of the benign lesions in the reviewed cases. A single case presented with normal calcium levels (20% of bleeding episodes), in line with the reviewed cases (17.4%). A subtle CT sign of an enhancing area within the parathyroid gland, which led to the diagnosis, was identified in a single case. Conservative treatments were employed in 80% of our cases and in 51.5% of the reviewed cases, all being successful. Neck explorations performed after a 3-month waiting period from the acute event demonstrated better results compared to immediate surgery.A high suspicion index is needed, particularly in post-menopausal women, to reach a diagnosis and allow optimal management. Normal laboratory values do not exclude parathyroid etiology, yet assessment should include calcium and PTH levels along with targeted imaging. Since bleeding may recur, we suggest that PHPT complicated with neck hematoma should be an independent indication for definitive parathyroidectomy surgery.3b.

Purpose Managing persistent epistaxis poses a great challenge for the otolaryngologist. Despite continuous development in treatment methods, no universal guideline has been commonly adopted. Among the popular methods is endoscopic sphenopalatine artery ligation (ESPAL). This study aims to evaluate the impact of ESPAL integration on persistent epistaxis management over 15 years in a single academic center. Methods A retrospective study including all cases who were hospitalized due to persistent epistaxis and required intervention between 2000 and 2016. From 2011, ESPAL was routinely utilized in our center, hence the study population was divided based on admission year, prior to 2011 (pre-ESPAL) and from 2011 till the end of data collection (post-ESPAL). Results The pre-ESPAL group included 87 interventions and the post-ESPAL group 54 interventions. Electrocautery remained the most common intervention in both periods. However, ESPAL incorporation was accompanied by a significant decline in the use of posterior nasal packing in the post-ESPAL group. The hemoglobin recovery levels and the mortality rates were significantly improved in the post-ESPAL group compared with the pre-ESPAL group despite higher comorbidity rates among the post-ESPAL patients. Conclusions This study demonstrates the shifting trend in managing persistent epistaxis, and suggests that ESPAL has successfully replaced posterior nasal packing. These findings may encourage clinicians to consider ESPAL as a valuable tool in the management of persistent epistaxis.

In the original publication of the article, one of the author name was published incorrectly.