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OBJECTIVE: Molecular testing is a well-established tool that assists in the management of thyroid nodules. We describe our experience using molecular testing of thyroid nodules with Bethesda III to VI cytology. METHODS: This is a retrospective multicenter, multinational study of thyroid nodules that underwent preoperative molecular profiling with ThyGenX/ThyGeNEXT or ThyroSeq V3 between 2015 and 2022. The clinical characteristics and mutational profiles of tumors were compared. Collected data included demographics, cytology results, surgical pathology, and molecular alterations. Molecular alterations were categorized into 3 main phenotypes: BRAF-like, RAS-like, and non-BRAF-non-RAS (NBNR). RESULTS: Overall, 784 patients who had surgery were included, of which 603 (76.2%) were females. The most common histologic type was papillary thyroid cancer (PTC) with 727 (91.9%) cases. In total, 205 (28.2%) cases showed an aggressive subtype of PTC (eg, tall cell and hobnail). BRAF-like alterations were most likely to be found in Bethesda V and VI nodules and show extrathyroidal extension (ETE), nodal disease, and/or aggressive subtypes of PTC (P < .001 for all). RAS-like alterations were more commonly found in Bethesda III and IV nodules and were less likely to show ETE, nodal disease, and/or aggressive histology (P < .001 for all). NBNR alterations were more commonly found in Bethesda III and IV nodules and were less likely to show ETE, nodal disease, and/or aggressive subtypes of PTC. However, they were rarely but significantly associated with poorly differentiated thyroid cancer (P < .005). CONCLUSION: Molecular testing of thyroid nodules can help determine the likelihood of malignancy and classify nodules into several tumor phenotypes, predicting their behaviors and potentially allowing for a more tailored treatment. NBNR alterations should be managed with caution.
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Neoplasias de la Tiroides , Nódulo Tiroideo , Femenino , Humanos , Masculino , Nódulo Tiroideo/patología , Estudios Retrospectivos , Proteínas Proto-Oncogénicas B-raf/genética , Biopsia con Aguja Fina , Neoplasias de la Tiroides/patología , Cáncer Papilar Tiroideo/genética , MutaciónRESUMEN
OBJECTIVE: The use of parathyroid lesion aspiration in preoperative adenoma localisation is controversial. Concerns have been raised regarding both immediate safety (hematoma, infection, alterations on a subsequent histologic preparate) and long-term safety (seeding). We aimed to evaluate the short- and long-term safety, and the efficacy, of parathyroid fine-needle aspiration with parathyroid hormone washout as a localisation modality of parathyroid adenoma in patients with primary hyperparathyroidism. DESIGN: A retrospective study. PATIENTS: The sample comprised 29 patients with primary hyperparathyroidism who underwent minimally invasive parathyroidectomy at a tertiary referral centre, following localisation with parathyroid hormone washout. MEASUREMENTS: We reviewed all parathyroid hormone washout procedures performed during 2011-2021. Clinical, biochemical, and imaging information; and cytology, surgery, and pathology reports were extracted from electronic medical records. RESULTS: Parathyroid hormone levels from the needle wash were 2.1-112.5 times the upper limit of the serum norm. Other than mild neck discomfort, no immediate procedure complications were documented. Fibrotic changes and necrosis were reported in two patients, with no effect on the final pathologic diagnosis or surgery course. No long-term complications (seeding, or parathyromatosis) were found. A total of 26 (90%) patients who were operated following a positive parathyroid hormone washout result were normocalcemic at the end of a mean 38.1-month follow-up period. CONCLUSIONS: Parathyroid fine-needle aspiration with parathyroid hormone washout was accurate. Immediate, surgical, or delayed complications were not demonstrated in our series. This approach might be considered for selected patients.
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Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Humanos , Neoplasias de las Paratiroides/complicaciones , Hormona Paratiroidea , Estudios Retrospectivos , Hiperparatiroidismo Primario/cirugía , Biopsia con Aguja Fina , Paratiroidectomía/métodos , Tecnecio Tc 99m SestamibiRESUMEN
BACKGROUND: Although more common in females, thyroid cancer is deemed to be more aggressive in males. The reasons for sex disparities in thyroid cancer are not well understood. We hypothesised that differences in molecular mutations between females and males contribute to this phenomenon. METHODS: Retrospective multicentre multinational study of thyroid nodules that underwent preoperative molecular profiling between 2015 and 2022. The clinical characteristics and mutational profiles of tumours in female and male patients were compared. Collected data included demographics, cytology results, surgical pathology, and molecular alterations. RESULTS: A total of 738 patients were included of which 571 (77.4%) were females. The extrathyroidal extension was more common in malignancies in males (chi-squared, p = 0.028). The rate of point mutations and gene fusions were similar in both sex groups (p > 0.05 for all mutations). Patients with nodules with BRAFV600E mutations were significantly younger than BRAF wild-type nodule patients (t-test, p = 0.0001). Conversely, patients with TERT promoter mutations were significantly older than patients with wild-type TERT (t-test, p < 0.0001). For patients harbouring both BRAFV600E and TERT mutations, the difference in age at presentation was significantly different in females (t-test, p = 0.009) but not in males (t-test, p = 0.433). Among females, patients with BRAFV600E and TERT mutations were significantly older than their wild-type or single-mutation counterpart (t-test, p = 0.003). CONCLUSION: The absolute rate of molecular mutations was similar in females and males. We found that extrathyroidal extension was more common in males. Moreover, BRAFV600E and TERT mutations occur at a younger age in males than in females. These two findings are factors that may explain the tendency of more aggressive disease in males.
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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.
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Abstract: Cricopharyngeal muscle myotomy (CPM) is a common intervention for relief of dysphagia in patients with Oculo-pharyngeal muscular dystrophy (OPMD). Because of difficulties in approaching and dissecting cricopharyngeal muscle in these patients, we used transillumination for the myotomy (TA-CPM). Transillumination is a simple technique to improve the guidance and navigation of the surgeon in determining the location and depth of myotomy. The purpose of this study is to evaluate the efficacy and safety of transillumination in CPM in OPMD patients. An observational cohort of patients with OPMD who underwent CPM due to dysphagia at one medical center between 2010 and 2019. Two groups of patients are included, according to whether transillumination was used during their surgery. Patients were evaluated before and after surgery (1 week and 1 month) for their dysphagia score with a standardized questionnaire. The surgical team preferences, experience and complexity with and without transillumination were evaluated. Ten OPMD patients (8 heterozygotes, 2 homozygotes for the commonmutation) underwent CPM for relieving dysphagia symptoms at medium size medical center in Israel between 2010 and 2019. Five patients had TA-CPM and the 5 patients had CPM without transillumination. All patients showed an improvement at follow-up examinations, 1 week and 1 month postoperative, including a decrease in dysphagia score and in choking and aspiration events, compared to their preoperative state. TA-CPM improved the surgical approach, reduced the difficulty of CPM and was preferred by the surgical team. From the patients' point of view, TA-CPM was as good as a non-transillumination approach in improving dysphagia. TA-CPM is a cheap, fast and simple technique to improve the surgical outcomes in CPM for patients with OPMD. TA-CPM navigates the surgeon, helps with anatomical orientation, improve the surgeon's comfortable, may shorten the duration of surgery and reduces potential errors. Improvement in dysphagia score was similar in both groups. This technique may improve myotomy procedures for dysphagia of other etiologies. Level of evidence: IV. Case series (with or without comparison). Endoscopic transillumination assisted myotomy.
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BACKGROUND: Current guidelines consider all cases of papillary thyroid carcinoma (PTC) smaller than 4 cm and without extrathyroidal extension (ETE) and/or lymph node metastases as belonging to the same prognostic group, and therefore the recommendation is for uniform treatment. Xing draws our attention to a small subgroup with Duet Mutations (BRAF E600 and TERT 3636 genes) that are aggressive biologically and should be treated differently. Thus the aim of the present study is to test the validity of this recommendation. METHODS: A Markovian Model is used to evaluate the above hypothesis. RESULTS: A Monte Carlo sensitivity test shows a 5.6 year survival advantage for patients with low-grade PTC, who have the Duet Mutations, and were treated by total thyroidectomy rather than hemithyroidectomy. CONCLUSIONS: We conclude that there is a place for routine molecular tests in low-risk patients with PTC.
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Carcinoma Papilar , Neoplasias de la Tiroides , Carcinoma Papilar/genética , Carcinoma Papilar/patología , Carcinoma Papilar/cirugía , Humanos , Técnicas de Diagnóstico Molecular , Estudios Retrospectivos , Cáncer Papilar Tiroideo/genética , Cáncer Papilar Tiroideo/patología , Cáncer Papilar Tiroideo/cirugía , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , TiroidectomíaRESUMEN
OBJECTIVES: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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Centros Médicos Académicos , Biopsia con Aguja Fina , Centros Comunitarios de Salud , Nódulo Tiroideo , Centros Médicos Académicos/normas , Centros Médicos Académicos/estadística & datos numéricos , Adulto , Anciano , Biopsia con Aguja Fina/métodos , Biopsia con Aguja Fina/normas , Centros Comunitarios de Salud/normas , Centros Comunitarios de Salud/estadística & datos numéricos , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y Especificidad , Glándula Tiroides/patología , Glándula Tiroides/cirugía , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugíaRESUMEN
OBJECTIVES: The aim of this study was to ascertain the relationship between Bethesda category and molecular mutation of thyroid nodules in patients undergoing thyroidectomy. DESIGN: A retrospective cohort of patients who underwent thyroidectomy following needle biopsy and molecular profile testing was performed. SETTING: Two tertiary care academic hospitals. PARTICIPANTS: Consecutive patients with a dominant thyroid nodule who underwent both USFNA and molecular profile testing followed by thyroidectomy were included in the study. MAIN OUTCOME AND MEASURES: The main outcome was postoperative diagnosis of thyroid cancer and aggressivity of disease based on histopathological variants, nodal metastasis or extra-thyroidal extension. Associations between Bethesda category, molecular mutation and postoperative pathology was assessed using descriptive analysis and chi-square testing. RESULTS: Four hundred fifty-one patients were included. 95.9% (93/97) of patients with a BRAFV600E mutation had a Bethesda category V or VI (p < .001), and all had confirmed thyroid cancer on postoperative pathology. Those with H, K or N RAS or EIF1AX mutations, gene expression profiling (GEP) or copy number alterations showed an association with Bethesda categories III and IV (p ≤ .01). Those with no identified molecular mutation had a lower incidence of aggressive thyroid cancer compared to those with an identified mutation (12.6% vs. 44.3%, p < .01). CONCLUSION: BRAFV600E mutations were associated with thyroid cancer subtypes known to be more aggressive whereas RAS and EIF1AX mutations, copy number alterations, and GEP were related to Bethesda categories III and IV. These findings may help thyroid specialists better identify aggressive thyroid nodules associated with indeterminate Bethesda categories.
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Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/genética , Nódulo Tiroideo/patología , Tiroidectomía/métodos , Adulto , Anciano , Biopsia con Aguja Fina , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Mutación , Estudios Retrospectivos , Neoplasias de la Tiroides/cirugía , Nódulo Tiroideo/cirugíaRESUMEN
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.
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Nódulo Tiroideo/genética , Nódulo Tiroideo/patología , Adulto , Anciano , Biopsia con Aguja Fina , Citodiagnóstico , Femenino , Perfilación de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Estudios de Asociación Genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Israel , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Análisis de Secuencia de ADN , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/metabolismo , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/metabolismo , TranscriptomaRESUMEN
BACKGROUND: Molecular testing has been used for cytologically indeterminate thyroid nodules (Bethesda III and IV), where the risk of malignancy is 10-40%. However, to date, the role of molecular testing in cytologically suspicious or positive for malignancy (Bethesda V and VI) thyroid nodules has been controversial. The aim of this study was to determine whether patients who had molecular testing in Bethesda V and VI thyroid nodules had the optimal extent of surgery performed more often than patients who did not have molecular testing performed. METHODS: A retrospective chart review of 122 cases was performed: 101 patients from the McGill University teaching hospitals and 21 patients from the Hillel Yaffe Medical center, Technion University. Patients included in the study were those with Bethesda V or VI thyroid nodules who underwent molecular testing (ThyGenext® or ThyroseqV3®) (McGill n = 72, Hillel Yaffe n = 14). Patients with Bethesda V or VI thyroid nodules who did not undergo molecular testing were used as controls (McGill n = 29, Hillel Yaffe n = 7). Each case was reviewed in order to determine whether the patient had optimal surgery. This was defined as total thyroidectomy in the presence of either a positive lymph node, extrathyroidal extension, or an aggressive pathological variant of papillary thyroid carcinoma (tall cell, hobnail, columnar cell, diffuse sclerosing, and solid/trabecular) documented on the final pathology report. In all other cases, a lobectomy/hemi/subtotal thyroidectomy was considered as optimal surgery. Chi-squared testing was performed to compare groups. RESULTS: When molecular testing was done, 91.86% (79/86) of surgeries in the molecular testing group were optimal, compared to 61.11% (22/36) in the control group. At McGill University teaching hospitals and at Hillel Yaffe, 91.67% (66/72) and 92.86% (13/14) of surgeries in the intervention group were considered as optimal, respectively. This compares to 58.62% (17/29) at McGill and 71.43% (5/7) at Hillel Yaffe when molecular testing was not performed (p = .001, p = .186). CONCLUSIONS: In this study, molecular testing in Bethesda V and VI thyroid tumors significantly improved the likelihood of optimal surgery. Therefore, molecular testing may have an important role in optimizing surgical procedures performed in the setting of Bethesda V and VI thyroid nodules. Prospective studies with larger sample sizes are required to further investigate this finding.
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Técnicas de Diagnóstico Molecular , Mutación , Cáncer Papilar Tiroideo/patología , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/patología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Proto-Oncogénicas B-raf/genética , Estudios Retrospectivos , Cáncer Papilar Tiroideo/genética , Cáncer Papilar Tiroideo/cirugía , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/cirugía , Nódulo Tiroideo/genética , Nódulo Tiroideo/cirugía , TiroidectomíaRESUMEN
INTRODUCTION: The Bethesda System for Reporting Thyroid Cytopathology was developed in 2007 to facilitate an accurate, reproducible communication of thyroid fine-needle aspiration (FNA) interpretations between clinicians and cytopathologists and to serve as a guide for treatment. Based on large patient series, the system details the risk of malignancy for each category as well as a suggested management for each FNA result. Though this system has been widely adopted, there are only few studies to determine whether results are applicable for Israel. METHODS: A multicenter, retrospective analysis of medical charts of all patients who underwent thyroid surgery between January 1st, 2012 and December 31st, 2016 in four medical centers in Israel was performed. Data was analyzed for the overall risk of malignancy for the Bethesda system groups as well as comparison between the different laboratories performing the test. RESULTS: Records of 810 thyroidectomies in which preoperative cytological reports and final pathology were available and reviewed. The malignancy rates according to the Bethesda groups' I-VI for our cohort were: 27.8%, 17.6%, 41.4%, 41.4%, 86.9%, and 98.1% respectively. Similar results were seen when results were analyzed according to the different laboratories performing the tests. CONCLUSIONS: Post-surgical review of all Bethesda groups had higher malignancy rates than those reported in the original report. These results indicate a difference in the malignancy rates for the different Bethesda system groups in Israel compared to those reported. Physicians are encouraged to use data validated for their own country or patients' community in addition to published values.
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Biopsia con Aguja Fina , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Adulto , Anciano , Servicios de Laboratorio Clínico/normas , Servicios de Laboratorio Clínico/estadística & datos numéricos , Trastornos de Deglución/etiología , Disnea/etiología , Femenino , Humanos , Israel , Linfadenopatía/etiología , Masculino , Persona de Mediana Edad , Selección de Paciente , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Factores de Riesgo , Evaluación de Síntomas , Glándula Tiroides/patología , Neoplasias de la Tiroides/clasificación , Neoplasias de la Tiroides/diagnóstico por imagen , Tiroidectomía , Carga Tumoral , UltrasonografíaRESUMEN
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.
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Enfermedades de la Tiroides , Neoplasias de la Tiroides , Nódulo Tiroideo , Biopsia con Aguja Fina , Humanos , Estudios Retrospectivos , Enfermedades de la Tiroides/diagnóstico , Enfermedades de la Tiroides/patología , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patologíaRESUMEN
INTRODUCTION: The Eustachian tube ventilates the middle ear while keeping pathogens out. Obstructive dysfunction of the Eustachian tube is a common complaint, manifested by the inability to equilibrate middle ear pressure. Middle ear sequelae include inflammation, tympanic membrane retraction and rarely cholesteatoma. Balloon dilation is a new procedure for treating obstructive dysfunction of the Eustachian tube. OBJECTIVES: This research evaluates the outcome of balloon dilation of the Eustachian tube (BDET) performed at Hillel Yaffe Medical Center and compares results with those reported in global publications. METHODS: Patients indicating that ear pressure had significantly impacted their quality of life were recruited. Most received a conductive hearing loss audiogram and either a B or C tympanogram. BDET was performed. A 12-month follow-up survey was conducted, including an ETDQ7 questionnaire and repeat audiograms and tympanograms. RESULTS: A total of 16 patients were recruited and 24 BDETs were conducted. Aside from one patient, who received ambulatory treatment for subcutaneous emphysema, no patients had BDET complications; average ETDQ7 scores improved from 25.9 (n=20) to 15.3 (n=9) 12 months post-op. (P=0.001). CONCLUSIONS: BDET is a safe procedure and benefits those who suffer from an obstructed Eustachian tube. A comprehensive literature review also concludes that BDET is safe, that it relieves the obstructive Eustachian tube and is superior to conservative treatments. BDET is increasingly being used on a global scale and the Hillel Yaffe Medical Center is applying it in Israel.
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Enfermedades del Oído , Trompa Auditiva , Dilatación , Humanos , Israel , Calidad de VidaRESUMEN
BACKGROUND: Molecular testing of thyroid nodules is a diagnostic tool used to better understand the nature of thyroid nodules. The aim of this study is to better comprehend the relationship between specific mutations and aggressive behavior of the tumour as demonstrated on postoperative pathological analysis. METHODS: A retrospective chart review of 103 cases was performed. Included were patients who had undergone molecular testing using a panel that tests for 9 mutations (ThyGenX®) and were found to have malignant tumours. The following gene alterations were found pre-operatively in the nodules: BRAF V600E (n = 32), BRAF K601E (n = 4), NRAS (n = 11), HRAS (n = 4), KRAS (n = 3), RET/PTC1 rearrangement (n = 1), TERT promoter (n = 2), PAX8-PPARγ rearrangement (n = 1), and 45 cases where no mutation was detected. Aggressive behavior was defined by extra-thyroidal extension (ETE), lymph node metastasis (LN+), and the following variants of papillary thyroid carcinoma: tall cell, solid, diffuse sclerosing, columnar cell and hobnail. Chi-squared testing was performed to compare groups. RESULTS: The group with BRAF V600E, RET/PTC1 rearrangement, and TERT promoter mutations was associated with ETE 37.1%, and LN+ 45.7% of the time compared to 4.3 and 13.0% in the group with other mutations, and 4.4 and 4.4% in the group with no mutations (p-value 0.02, p-value < 0.001, p-value 0.006). In addition, the BRAF V600E, RET/PTC1 rearrangement, and TERT mutations group demonstrated tall cell variants (17.1%), columnar cell variants (5.7%), and hobnail variants (3%). The other mutations group demonstrated columnar cell variants (4.3%), and the no mutations group demonstrated solid variants (2.2%). CONCLUSIONS: In this study, BRAF V600E, RET/PTC1 rearrangement, and TERT mutations were associated with aggressive behaving thyroid malignancies as defined above. Molecular testing may be a useful method to anticipate aggressive tumour types and therefore assist in planning the extent and timing of surgery.
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Mutación , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas c-ret/genética , Telomerasa/genética , Glándula Tiroides/cirugía , Nódulo Tiroideo/genética , Tiroidectomía , Anciano , Análisis de Varianza , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Glándula Tiroides/patología , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Tiroidectomía/métodosAsunto(s)
Enfisema Mediastínico/complicaciones , Traumatismos del Cuello/complicaciones , Trastornos del Habla/diagnóstico , Heridas Punzantes/complicaciones , Angiografía , Diagnóstico Diferencial , Drenaje/métodos , Estudios de Seguimiento , Humanos , Laringoscopía , Masculino , Enfisema Mediastínico/diagnóstico , Enfisema Mediastínico/terapia , Traumatismos del Cuello/diagnóstico , Traumatismos del Cuello/cirugía , Radiografía Torácica , Trastornos del Habla/etiología , Tomografía Computarizada por Rayos X , Heridas Punzantes/diagnóstico , Heridas Punzantes/cirugía , Adulto JovenRESUMEN
Cricoarythenoid arthritis can be part of rheumatoid arthritis, which can present with laryngeal symptoms as in other systemic diseases. Bilateral vocal cord paralysis can developed with the progression of cricoarythenoid arthritis and can endanger the patient who suffers from dyspnea and eventually choking. Ankylosis and no mobility of the arythenoids, secondary to chronic inflammatory process in the cricoarythenoid joint, induce in the chronic phase bilateral vocal cord paralysis with symptoms such as stridor, horseness, dyspnea and also pain during speaking and swallowing in the acute phase. The treatment for cricoarythenoid arthritis with bilateral vocal cord paralysis include operations for improvement of breathing and voice. Tracheostomy gives an immediate solution for acute medical condition of dyspnea, resulting from the location of the vocal cords in paramedian or median position, due to their immobility. There are other operations aiming to produce adduction of the vocal cords and widen the glottic inlet and thereby improve the airway condition. The family physician needs to consider the damage and fixation of the vocal cord in patients with advanced arthritis. Patients who have rheumatic arthritis need an otolaryngologic follow-up and periodic laryngoscopic evaluation in order to prevent delayed diagnosis of bilateral vocal cord paralysis which endangers the patient's airway. It is recommended to be examined by an otolaryngologist and also to evaluate the vocal cords as part of the pre-operative evaluation of the anesthesiologist, as performed in the evaluation of the larynx in patients prior to thyroidectomy. This is a case study of a patient who had severe rheumatoid arthritis and developed cricoarythenoid arthritis and bilateral vocal cord paralysis presented with stridor and dyspnea and needed an immediate tracheostomy. Cricoarythenoid arthritis with bilateral vocal cord paralysis including treatments options are discussed.
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Artritis Reumatoide/complicaciones , Parálisis de los Pliegues Vocales/etiología , Parálisis de los Pliegues Vocales/cirugía , Femenino , Lateralidad Funcional , Humanos , Persona de Mediana Edad , Traqueostomía , Resultado del TratamientoRESUMEN
The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.
Asunto(s)
Región Branquial/anomalías , Región Branquial/cirugía , Coloboma/complicaciones , Coloboma/cirugía , Centrómero/genética , Preescolar , Femenino , HumanosRESUMEN
OBJECTIVE: To evaluate children with obstructive sleep apnea syndrome (OSAS) for features of attention deficit disorder (ADD) using an objective test of inattention and impulsivity: Test of Variables of Attention (TOVA) and then to determine whether tonsillectomy and adenoidectomy (T+A) results in an improvement in TOVA scores. STUDY DESIGN AND SETTING: This study was a prospective interventional comparative trial in a tertiary care children's hospital. Nineteen children ages 5 to 14 years with OSAS, and otherwise healthy, with a clinical indication for T+A. Preoperative and 2 months postoperative OSA-18, CBCL questionnaires, and TOVA scores were evaluated. RESULTS: The preoperative TOVA scores were in the abnormal range in 12/19 (63%) of the children. The mean preoperative TOVA score was -2.9 (+/- 3.1). The mean postoperative TOVA score was -0.4 (+/-2.8). The improvement in the TOVA scores was significant ( P < 0.0001, t -test). CONCLUSION: This preliminary data suggests that treatment of OSAS with T+A results in significant improvement in objective parameters of inattention and impulsivity. Significance These findings may be important in understanding the impact of OSAS and therapeutic interventions on behavioral problems in children.