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PURPOSE: The aim of this article was to systematically review the literature on the pediatric population surgically treated for cholesteatoma and describe the applied post-operative follow-up strategies. METHODS: A systematic review was conducted following the Primary Reporting Items for Systematic Review and Meta-analysis (PRISMA) statement recommendations. After running the selected search string in PubMed, Scopus and Google Scholar, studies in English, reporting on surgically treated pediatric cholesteatoma patients (age younger or equal to 18 year-old) were retrieved. Both primary and revision cholesteatoma surgeries were included. Articles lacking specific data on post-surgical follow-up and case series with less than 10 patients were excluded. RESULTS: Nineteen papers, published between 2000 and 2023, were included for final analysis. Fourteen studies were retrospective and five prospective, for a total of 1319 patients and 1349 operated ears. Male to female ratio was 1.8:1, with a mean age at surgery of 10.4 years (range 1-18). The mean length of the follow-up after surgery was 4.4 ± 1.7 years (range 1-6.9). Clinical follow-up was detailed in 9 studies (47%) with otomicroscopy being the most common evaluation. In most articles (n = 8, 50%), MRI alone was utilized for radiological follow-up, while in 3 studies (19%), CT scans were employed exclusively. In 5 studies (31%), MRI was combined with CT scans. The timing of radiological investigations varied widely (ranging from 6 months to 3 years). A second-look strategy was reported in 14 studies (74%). CONCLUSION: This systematic review highlights the heterogeneity of the follow-up strategies applied to pediatric patients after cholesteatoma surgery, both in terms of timing and types of investigations.
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This PRISMA-compliant systematic review aimed to investigate the use of and the most common procedures performed with the novel 3D 4K exoscope in surgical pediatric head and neck settings. METHODS: Search criteria were applied to PubMed, EMBASE and the Cochrane Review databases and included all studies published up to January 2023 reporting 3D 4K exoscope-assisted surgeries in pediatric patients. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for number of patients treated, age, surgical procedures, and outcomes. RESULTS: Among 54 potentially relevant records, 5 studies were considered eligible and included in this systematic review, with reported treatment data for 182 patients. The surgical procedures belong to the otologic field (121 cases), head and neck surgery (25 cases) and transoral surgery (36 cases). Exoscopy allowed high quality visualization of anatomical structures during cochlear implantation and during reconstruction in head and neck surgery; moreover, it improved the surgical view of surgeons, spectators and ENT students. CONCLUSIONS: The use of 3D 4K exoscopy has shown promising potential as a valuable tool in pediatric ORL-head and neck surgery; nevertheless, further validation of these encouraging outcomes is necessary through larger-scale studies specifically focused on pediatric patients.
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Objective: The COVID-19 pandemic profoundly modified the work routine in healthcare; however, its impact on the field of paediatric otorhinolaryngology (ORL) has been rarely investigated. The aim of this study was to assess the impact of COVID-19 on paediatric ORL. Methods: A questionnaire was developed by the Young Otolaryngologists of the Italian Society of ORL-Head and Neck Surgery (GOS). The questionnaire consisted of 26 questions related to workplace and personal paediatric ORL activities. The link was advertised on the official social media platforms and sent by e-mail to 469 Italian otolaryngologists. Results: The questionnaire was completed by 118 responders. During the pandemic, the main reduction was observed for surgical activity (78.8%), followed by outpatient service (16.9%). The conditions that were mostly impacted by a delayed diagnosis were respiratory infections in 45.8% of cases and sensorineural hearing loss in 37.3% of cases. Conclusions: Paediatric ORL was highly impacted by the COVID-19 pandemic, with a significant reduction of surgical and outpatient activities and a delay in time-sensitive diagnosis. Therefore, the implementation of new strategies, such as telemedicine, is recommended.
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Chronic otitis media (COM) is a persistent inflammation of the middle ear. COM often requires surgical management and represents one of the most disabling pathologies in the field of otolaryngology, not only due to hearing loss but also because recurrent otorrhea seriously affects the quality of life (QoL) of patients. The COMOT-15 questionnaire is a reliable, valid and sensitive tool for measuring the QoL of patients with COM. The aim of this study was to evaluate QoL by using the Italian version of the COMOT-15 in COM patients undergoing surgery based on age and different operation techniques. This observational retrospective study involved fifty-two consecutive patients undergoing surgical treatment for COM according to Nadol criteria. Preoperatively (T0) and 12 months after surgery (T1) patients underwent clinical examination, imaging, the Italian version of the COMOT-15 and pure tone audiometry. After surgery, we observed an improvement of QoL in 84.6% of the population. The COMOT-15 overall score, ear symptoms and hearing subscores showed significantly better ratings after surgery in the whole analyzed group. However, the separate analysis of patients operated with open techniques and closed techniques showed a significant improvement in ear symptoms subscore in both groups and a significant improvement in hearing subscore and mental health subscore only in patients operated on with closed techniques. Moreover, we observed a positive correlation between age and Δ-COMOT. This study shows the crucial role of a reliable and suitable questionnaire such as the COMOT-15 in evaluating COM patients, including clinical symptoms, functional and psychological impairments and highlighting a positive correlation between age and COMOT-15 results.
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The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the FDA in October 2019 for treatment of Cystic Fibrosis in patients 6 years of age or older who have at least one F508del mutation in one allele and a minimal-function or another F508del mutation in the other allele. However, there is a group of patients, in addition to those with rare mutations, in which despite the presence of a F508del in one allele, it was not possible to identify any mutation in the other allele. To date, these patients are excluded from treatment with Trikafta in Italy, where the CF patients carrying F508del/unknown represent about 1.3% (71 patients) of the overall Italian CF patients. In this paper we show that the Trikafta treatment of nasal epithelial cells, derived from F508del/Unknown patients, results in a significant rescue of CFTR activity. Based on our findings, we think that the F508del/Unknown patients considered in this study could obtain clinical benefits from Trikafta treatment, and we strongly suggest their eligibility for this type of treatment. This study, adding further evidence in the literature, once again confirms the validity of functional studies on nasal cells in the cystic fibrosis theratyping and personalized medicine.
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Purpose: The aim of the study is to compare the accuracy of unstructured preoperative Computed Tomography (CT) reports from non-tertiary diagnostic centers with intraoperative findings in a large cohort of patients with Chronic Otitis Media (COM) undergone surgery. Methods: From 2012 to 2019, a total number of 301 patients were considered for our purposes. All patients with clinical evidence of COM had preoperative non-contrast high resolution CT scan of the temporal bone in non-tertiary diagnostic centers, performed within 3 months before surgery. Results: The accuracy of CT reports was analyzed in terms of nature, anatomical site, disease extension, bony erosion, vascular structures abnormalities relevant to surgical planning, and Eustachian tube patency. Compared to post-surgical findings, CT reporting critical analysis revealed a tendency to overestimation of bony erosion, coupled to underestimated description of facial canal/lateral semi-circular canal, vascular structures, and Eustachian tube. Conclusion: Discrepancies between CT reports and surgical findings in middle ear opacification can be at least in part due to limited expertise of general radiologists in ENT neuroimaging. To limit this lack of information and the limited accuracy of middle ear structures depiction, here we propose a structured checklist to adopt in the case of a temporal bone CT scan for COM, in order to optimize the communication with surgeons and provide all the crucial information for an accurate surgical planning.
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Cystic fibrosis (CF) is characterized by an airway obstruction caused by a thick mucus due to a malfunctioning Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. The sticky mucus restricts drugs in reaching target cells limiting the efficiency of treatments. The development of new approaches to enhance drug delivery to the lungs represents CF treatment's main challenge. In this work, we report the production and characterization of hybrid core-shell nanoparticles (hNPs) comprising a PLGA core and a dipalmitoylphosphatidylcholine (DPPC) shell engineered for inhalation. We loaded hNPs with a 7-mer peptide nucleic acid (PNA) previously considered for its ability to modulate the post-transcriptional regulation of the CFTR gene. We also investigated the in vitro release kinetics of hNPs and their efficacy in PNA delivery across the human epithelial airway barrier using an ex vivo model based on human primary nasal epithelial cells (HNEC) from CF patients. Confocal analyses and hNPs transport assay demonstrated the ability of hNPs to overcome the mucus barrier and release their PNA cargo within the cytoplasm, where it can exert its biological function.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/tratamento farmacológico , Nanopartículas/química , Ácidos Nucleicos Peptídicos/farmacologia , 1,2-Dipalmitoilfosfatidilcolina/química , 1,2-Dipalmitoilfosfatidilcolina/farmacologia , Obstrução das Vias Respiratórias/tratamento farmacológico , Obstrução das Vias Respiratórias/genética , Obstrução das Vias Respiratórias/patologia , Fibrose Cística/genética , Fibrose Cística/patologia , Sistemas de Liberação de Medicamentos , Humanos , Pulmão/efeitos dos fármacos , Pulmão/patologia , Muco/efeitos dos fármacos , Mucosa Nasal/efeitos dos fármacos , Ácidos Nucleicos Peptídicos/química , Copolímero de Ácido Poliláctico e Ácido Poliglicólico/química , Copolímero de Ácido Poliláctico e Ácido Poliglicólico/farmacologiaRESUMO
Intralabyrinthine schwannoma (ILS) is a rare benign tumor affecting cochlear and vestibular nerves, whose symptoms are generally unspecific and frequently responsible for a late diagnosis. Radiological examinations, with particular reference to magnetic resonance imaging (MRI), represent the only diagnostic technique to identify ILS. On computed tomography ILS can only be indirectly suspected by the presence of surrounding bone remodeling, whereas MRI provides direct visualization of the neoplasm as a filling defect within the labyrinth with vivid contrast enhancement. At the same time, MRI is also helpful in defining ILS anatomical extension into adjacent structures and in planning therapeutic management. Here we report three representative cases of ILS with new pictorial imaging features to improve ILS early detection and optimize subsequent therapeutic management.
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Neurilemoma , Neuroma Acústico , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Neurilemoma/diagnóstico por imagem , Neuroma Acústico/diagnóstico por imagemRESUMO
AIM: In the last twenty years, the statement of the CO2 laser in laryngeal microsurgery has proved particularly useful in the surgical treatment of laryngotracheal stenosis. The Authors report their surgical experiences and discuss them considering the location, size and pathologic features of the disease. The aim of this study was to evaluate the results that may be obtained in the treatment of laryngotracheal stenosis by endoscopy using the CO2 laser, and analyze the advantages and limitations of surgical methods implemented. MATERIAL OF STUDY: It includes 128 patients treated from 1981 to 2016 by endoscopy using the CO2 laser. RESULTS: The healing occurred in 121 of the 128 patients (94.5%); in the remaining 7 cases (5.5%) - 4 subjects (3.1%) with supraglottic cicatricial stenosis and 3 patients (2.3%) with widespread laryngotracheal stenosis - it had to integrate the technique of endoscopic surgery with a traditional surgery of recovery. In particular, it has observed as follows: In supraglottic stenosis: - oedematous forms healed without difficulty, a limited number of controls (1-2) was necessary to practice and any type of stent has not been used; - cicatricial forms required a greater number of controls (3-6) and the execution in 2 cases (1.6%) of an arytenoidectomy, we had 4 failures (3.1%) for which it had to implement a recovery surgery of traditional type; In glottic/ipoglottic stenosis: - all oedematous forms healed with a number of checks less than 3, without use of stents; - scarring forms resolved after a higher number of controls (3-6), in 4 of them (3.1%) it was necessary to practice an arytenoidectomy (associated to exeresis of 1/3 posterior ipsilateral true vocal cord) and in 4 (3.1%) had to applied an endolaryngeal guardian (in one case a Traissac stent and in 3 ones a Montgomery T-tube); In tracheal stenosis has occurred healing in all cases, more specifically: - in limited forms to the third anterior of the trachea were enough 1-2 checks and it was not necessary using stent; - in extended forms (involvement of the 2/3 anterior and/or of the whole tracheal circumference) a higher number of controls (3-6) was necessary; - in concentric forms, with total obstruction of the lumen, the application of endoluminal stent (3 Montgomery T-tubes and 2 tracheal cannulas of Silastic) was always necessary in addition to a number of controls superior to 7. - In laryngotracheal spread forms, 3 failures (2.3%) recorded, in all cases, however, many controls (greater than 7) was necessary and a Montgomery T-tube was placed. CONCLUSIONS: The introduction of the CO2 laser in the surgical treatment of laryngotracheal stenosis has undoubtedly improved the chances of endoscopic surgery; it is currently able to offer significant advantages compared to traditional techniques (cures faster, less traumatic interventions, post-operative elapsed better tolerated by patients, etc.) but it is also indisputable that to ensure the success of these operations is essential a correct understanding of the size and pathologic features of the same stenosis: the data, in fact, affect the choice of surgical addresses to adopt in individual cases and the prognostic judgment. KEY WORDS: Airway management, Airway problems, CO2 laser, Direct laryngoscopy, Endoscopy, External surgical approach, Laryngotracheal stenosis, Minimally invasive surgery, Montgomery Safe T-tube, Tracheal stenosis, Tracheostomy.
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Laringoestenose , Terapia a Laser , Lasers de Gás , Estenose Traqueal , Dióxido de Carbono , Humanos , Laringoestenose/cirurgia , Laringe , Lasers de Gás/uso terapêutico , Estenose Traqueal/cirurgia , Resultado do TratamentoAssuntos
Síndrome Coronariana Aguda/genética , Transtornos Herdados da Coagulação Sanguínea/genética , Coagulação Sanguínea/genética , Variação Genética , Infarto do Miocárdio/genética , Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/epidemiologia , Síndrome Coronariana Aguda/prevenção & controle , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Transtornos Herdados da Coagulação Sanguínea/sangue , Transtornos Herdados da Coagulação Sanguínea/tratamento farmacológico , Transtornos Herdados da Coagulação Sanguínea/epidemiologia , Criança , Pré-Escolar , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/sangue , Infarto do Miocárdio/epidemiologia , Infarto do Miocárdio/prevenção & controle , Fenótipo , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Adulto JovemRESUMO
Raoultella ornithinolytica is a bacterium belonging to the family Enterobacteriacae. It is a rare but emergent cause of human pathologies especially in immunocompromised patients. We described the first case in the literature of isolated external otitis sustained by Raoultella ornithinolytica in an immunocompetent host. A 54-year-old Caucasian man with a history of previous myringoplasty came to our attention reporting otalgia and otorrhea. We performed right ear swab for culture examination, meanwhile we started empirical therapy with topic administration of neomycin, without any clinical improvement. The cultural examination showed the presence of a Raoultella ornithinolytica infection. After ten days of treatment with oral ciprofloxacin and topic levofloxacin, there was the complete resolution of pain and inflammation. Raoultella ornithinolytica must be taken into consideration as an emergent cause of human infection, also in case of external otitis. Infection can be severe and can occur both in immunocompromised and in immunocompetent hosts. Culture test is mandatory to choose the proper therapy and avoid potential severe complications.
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Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FII G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455 G>A, FXIII V34L, and HPA-1 L33P variants and PAI-1 4G/5G alleles in 343 male and female patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT) and 119 with retinal vein thrombosis (RVT), and compared them with the corresponding variants and alleles in 430 subjects from the general population. Results: About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE. In patients with a history of PVT or CVT, the FII G20210A variant was more frequent, particularly in females. In contrast, a poor association was found between RVT and prothrombotic risk factors, confirming that local vascular factors have a key role in this thrombotic event. Conclusions: Only FVL, FVR2 and FII G20210A are related to vein thrombotic disease. Other gene variants, often requested for testing in the clinical context, do not differ significantly between cases and controls. Evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases.
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The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifier gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF.
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Fibrose Cística/genética , Genes Modificadores , Receptores Acoplados a Proteínas G/genética , Adolescente , Adulto , Criança , Fibrose Cística/complicações , Fibrose Cística/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pólipos Nasais/etiologia , Pólipos Nasais/genética , Pneumonia/etiologia , Pneumonia/genética , Receptores Acoplados a Proteínas G/metabolismoRESUMO
Pharmacological rescue of mutant cystic fibrosis transmembrane conductance regulator (CFTR) in cystic fibrosis (CF) depends on the specific defect caused by different mutation classes. We asked whether a patient with the rare p.Gly970Asp (c.2909G>A) mutation could benefit from CFTR pharmacotherapy since a similar missense mutant p.Gly970Arg (c.2908G>C) was previously found to be sensitive to potentiators in vitro but not in vivo. By complementary DNA transfection, we found that both mutations are associated with defective CFTR function amenable to pharmacological treatment. However, analysis of messenger RNA (mRNA) from patient's cells revealed that c.2908G>C impairs RNA splicing whereas c.2909G>A does not perturb splicing and leads to the expected p.Gly970Asp mutation. In agreement with these results, nasal epithelial cells from the p.Gly970Asp patient showed significant improvement of CFTR function upon pharmacological treatment. Our results underline the importance of controlling the effect of CF mutation at the mRNA level to determine if the pharmacotherapy of CFTR basic defect is appropriate.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Fibrose Cística/genética , Mutação Puntual , Códon , Fibrose Cística/metabolismo , Células HEK293 , Humanos , Fenótipo , Splicing de RNA , TransfecçãoRESUMO
BACKGROUND: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the same CFTR genotype and between siblings with CF. METHODS: We investigated all clinical aspects in a cohort of 101 pairs of siblings with CF (including 6 triplets) followed since diagnosis. RESULTS: Severe lung disease had a 22.2% concordance in sib-pairs, occurred early and the FEV1% at 12 years was predictive of the severity of lung disease in the adulthood. Similarly, CF liver disease occurred early (median: 15 years) and showed a concordance of 27.8% in sib-pairs suggesting a scarce contribution of genetic factors; in fact, only 2/15 patients with liver disease in discordant sib-pairs had a deficiency of alpha-1-antitrypsin (a known modifier gene of CF liver phenotype). CF related diabetes was found in 22 pairs (in 6 in both the siblings). It occurred later (median: 32.5 years) and is strongly associated with liver disease. Colonization by P. aeruginosa and nasal polyposis that required surgery had a concordance > 50% in sib-pairs and were poorly correlated to other clinical parameters. The pancreatic status was highly concordant in pairs of siblings (i.e., 95.1%) but a different pancreatic status was observed in patients with the same CFTR mutations. This suggests a close relationship of the pancreatic status with the "whole" CFTR genotype, including mutations in regulatory regions that may modulate the levels of CFTR expression. Finally, a severe course of CF was evident in a number of patients with pancreatic sufficiency. CONCLUSIONS: Physicians involved in care of patients with CF and in genetic counseling must be aware of the clinical heterogeneity of CF even in sib-pairs that, at the state of the art, is difficult to explain.
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Portador Sadio/microbiologia , Fibrose Cística/fisiopatologia , Diabetes Mellitus/etiologia , Insuficiência Pancreática Exócrina/etiologia , Hepatopatias/etiologia , Íleo Meconial/etiologia , Irmãos , Adolescente , Adulto , Criança , Fibrose Cística/complicações , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Feminino , Volume Expiratório Forçado , Genótipo , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Pessoa de Meia-Idade , Mutação , Pólipos Nasais/complicações , Pólipos Nasais/cirurgia , Orofaringe/microbiologia , Fenótipo , Pseudomonas aeruginosa , Índice de Gravidade de Doença , Escarro/microbiologia , Adulto Jovem , alfa 1-Antitripsina/genéticaRESUMO
Adenoid cystic carcinoma (ACC) is a relatively rare tumor that accounts for <1% of all head and neck malignancies. Laryngeal localization of ACC, which is most commonly hypoglottic, is relatively rare, occurring in 0.07-0.25% of all laryngeal tumors. ACC is characterized as a slow-growing tumor with a high recurrence rate, which often causes dyspnea and hoarseness. ACC exhibits a propensity for perineural invasion and thus, patients may experience pain as a late symptom of the disease. Distant metastasis occurs in 35-50% of cases and the lungs are the most common site of metastasis. Tumors are usually diagnosed by physical examination with fiberoscopy and computed tomography of the neck and chest, due to the high rate of lung metastases. The standard therapy for ACC is surgery followed by radiotherapy. In this study, a 70-year-old patient presented with laryngeal ACC, who underwent total laryngectomy with bilateral neck dissection and adjuvant radiotherapy, is presented. Follow-up examination performed 2 years after surgery revealed no evidence of locoregional recurrence or distant metastases. Previously published literature regarding ACC of the larynx was also reviewed.
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PURPOSE: To diagnose cholesteatoma when it is not visible through tympanic perforation, imaging techniques are necessary. Recently, the combination of computed tomography and magnetic resonance imaging has proven effective to diagnose middle ear cholesteatoma. In particular, diffusion weighted images have integrated the conventional imaging for the qualitative assessment of cholesteatoma. Accordingly, the aim of this study was to obtain a quantitative analysis of cholesteatoma calculating the apparent diffusion coefficient value. So, we investigated whether it could differentiate cholesteatoma from other inflammatory tissues both in a preoperative and in a postoperative study. METHODS: This study included 109 patients with clinical suspicion of primary or residual/recurrent cholesteatoma. All patients underwent preoperative computed tomography and magnetic resonance imaging with diffusion sequences before primary or second-look surgery to calculate the apparent diffusion coefficient value. RESULTS: We found that the apparent diffusion coefficient values of cholesteatoma were significantly lower than those of non cholesteatoma. In particular, the apparent diffusion coefficient median value of the cholesteatoma group (0.84 × 10- 3 mm2/s) differed from the inflammatory granulation tissue (2.21 × 10- 3 mm2/s) group (p < 2.2 × 10- 16). Furthermore, we modeled the probability of cholesteatoma by means of a logistic regression and we determined an optimal cut-off probability value of ~ 0.86 (specificity = 1.0, sensitivity = 0.97), corresponding to an apparent diffusion coefficient cut-off value of 1.37 × 10- 3 mm2/s. CONCLUSIONS: Our study has demonstrated that apparent diffusion coefficient values constitute a valuable quantitative parameter for preoperative differentiation of cholesteatomas from other middle ear inflammatory diseases and for postoperative diagnosis of recurrent/residual cholesteatomas.
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Colesteatoma da Orelha Média/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Tecido de Granulação/diagnóstico por imagem , Adolescente , Adulto , Idoso , Criança , Colesteatoma da Orelha Média/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence. We performed a nasal brushing in cooperating patients and compared the results with those of patients followed in the pediatric CF Centre of Naples. RESULTS: 9/295 (3%) subjects carrying at least S737F CFTR variant on one allele were identified. Patients were diagnosed in 7/9 cases by newborn screening and in two cases for dehydration with hypochloremic metabolic alkalosis; at diagnosis sweat chloride levels (SCL) were in the pathological range in only one case. After a mean follow up of 8,6 years (range 0,5-15,8), SCL were in the pathological range in 8/9 cases (mean age at CF diagnosis: 1,5 years), all patients were pancreatic sufficiency and respiratory function was normal. The gating activity on NEC was 15.6% and 12.7% in two patients compound heterozygous for W1282X and DelE22_24, while it was ranged between 6,2% and 9,8% in CF patients. CONCLUSIONS: S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein.