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1.
Am J Otolaryngol ; 45(1): 104050, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37741025

RESUMEN

BACKGROUND: Cochlear implantation (CI) in children with malformed ears can be challenging through the standard surgical technique. Several alternative approaches have been described. The endoscopic-assisted approach can be chosen as an effective and safe surgical technique, overcoming the drawbacks of the traditional approach. MATERIAL: We further describe a combined technique based on a limited mastoidectomy with no posterior tympanotomy and an endoscopic transmeatal approach to the round window (RW): the electrode is driven from the mastoid to the middle ear through the attic. RESULTS: The concomitant endoscopic assistance allows for improved surgical vision, reducing the risk of major complications. The main advantages of this technique are related to better visualization of the RW for safe insertion of the electrode; avoidance of damage to the facial nerve (FN), due to direct visualization, and sparing the posterior tympanotomy; avoidance of subtotal petrosectomy, if not necessary. CONCLUSION: The purpose of this article, supported with a video file, is to describe step by step this endoscopic-assisted procedure in a patient with middle ear malformation.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Niño , Humanos , Implantación Coclear/métodos , Oído/cirugía , Oído Medio/cirugía , Audición , Ventana Redonda/cirugía
2.
Alzheimers Dement ; 20(2): 1156-1165, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37908186

RESUMEN

INTRODUCTION: We assessed TAR DNA-binding protein 43 (TDP-43) seeding activity and aggregates detection in olfactory mucosa of patients with frontotemporal lobar degeneration with TDP-43-immunoreactive pathology (FTLD-TDP) by TDP-43 seeding amplification assay (TDP43-SAA) and immunocytochemical analysis. METHODS: The TDP43-SAA was optimized using frontal cortex samples from 16 post mortem cases with FTLD-TDP, FTLD with tau inclusions, and controls. Subsequently, olfactory mucosa samples were collected from 17 patients with FTLD-TDP, 15 healthy controls, and three patients carrying MAPT variants. RESULTS: TDP43-SAA discriminated with 100% accuracy post mortem cases presenting or lacking TDP-43 neuropathology. TDP-43 seeding activity was detectable in the olfactory mucosa, and 82.4% of patients with FTLD-TDP tested positive, whereas 86.7% of controls tested negative (P < 0.001). Two out of three patients with MAPT mutations tested negative. In TDP43-SAA positive samples, cytoplasmatic deposits of phosphorylated TDP-43 in the olfactory neural cells were detected. DISCUSSION: TDP-43 aggregates can be detectable in olfactory mucosa, suggesting that TDP43-SAA might be useful for identifying and monitoring FTLD-TDP in living patients.


Asunto(s)
Demencia Frontotemporal , Degeneración Lobar Frontotemporal , Humanos , Demencia Frontotemporal/genética , Degeneración Lobar Frontotemporal/genética , Degeneración Lobar Frontotemporal/patología , Proteínas tau/genética , Proteínas tau/metabolismo , Lóbulo Frontal/metabolismo , Neuronas/metabolismo , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo
3.
Facial Plast Surg ; 40(1): 9-18, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36652954

RESUMEN

The present study was performed to describe how much affordable, feasible, and straightforward is the approach the authors called "single-stage full-face surgical profileplasty," tailored to greatly improve the surgery of the facial profiling setting and achieve complete profile correction at the same time. From January 2010 to May 2019, 113 patients (95 females and 18 males; aged 19 - 63 years) were surgically treated for full-face profile amelioration. Profile correction was performed by using a combination of five procedures out of other various previously experienced: forehead fat grafting, rhinoplasty, lip fat grafting, genioplasty, and submental liposuction. All patients were assessed at 1, 3, 6, and 12 months following surgery for assessing the surgical profile treatment (SPT) outcome and any possible side effects of the combined treatment. Facial profile stability at 1 year was taken as the completion point of this treatment. Arnett et al's "Soft Tissue Cephalometric Analysis" (1999) was used to clinically evaluate the soft tissues before and after the SPT. Patients' satisfaction was measured with the Client Satisfaction Questionnaire-8" at 3 and 12 months after surgery. Statistics were used for Arnett et al's evaluation. Almost all the values were consistent and reached the normal ranges indicated by Arnett et al (p < 0.001), confirming that the desired results of the surgical profileplasty have been achieved. Single-stage full-face surgical profile treatment helps in correcting faults of the global facial deformity, in every single treated area, providing an overall improvement in facial aesthetics and harmony. Obtaining the simultaneous correction in the whole face has also the advantage of avoiding multiple surgical procedures, reducing postoperative discomfort, and the overall risks for the patient due to multiple surgical and anesthetic procedures.


Asunto(s)
Cara , Rinoplastia , Masculino , Femenino , Humanos , Cara/cirugía , Rinoplastia/efectos adversos , Rinoplastia/métodos , Resultado del Tratamiento , Frente/cirugía , Mentoplastia
4.
Neurol Sci ; 44(3): 919-930, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36394661

RESUMEN

Down syndrome is a common genetic disorder caused by partial or complete triplication of chromosome 21. This syndrome shows an overall and progressive impairment of olfactory function, detected early in adulthood. The olfactory neuronal cells are located in the nasal olfactory mucosa and represent the first sensory neurons of the olfactory pathway. Herein, we applied the olfactory swabbing procedure to allow a gentle collection of olfactory epithelial cells in seven individuals with Down syndrome and in ten euploid controls. The aim of this research was to investigate the peripheral gene expression pattern in olfactory epithelial cells through RNAseq analysis. Validated tests (Sniffin' Sticks Extended test) were used to assess olfactory function. Olfactory scores were correlated with RNAseq results and cognitive scores (Vineland II and Leiter scales). All Down syndrome individuals showed both olfactory deficit and intellectual disability. Down syndrome individuals and euploid controls exhibited clear expression differences in genes located in and outside the chromosome 21. In addition, a significant correlation was found between olfactory test scores and gene expression, while a non-significant correlation emerged between olfactory and cognitive scores. This first preliminary step gives new insights into the Down syndrome olfactory system research, starting from the olfactory neuroepithelium, the first cellular step on the olfactory way.


Asunto(s)
Síndrome de Down , Trastornos del Olfato , Humanos , Proyectos Piloto , Trastornos del Olfato/etiología , Odorantes , Olfato/fisiología
5.
Eur Arch Otorhinolaryngol ; 280(12): 5293-5298, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37393199

RESUMEN

PURPOSE: To critically illustrate the personal experience with using the "Remote Check" application which remotely monitors the hearing rehabilitation level of cochlear implant users at home and further allows clinicians to schedule in-clinic sessions according to the patients' needs. METHODS: 12-month prospective study. Eighty adult cochlear implant users (females n = 37, males n = 43; age range 20-77 years) with ≥ 36 months of cochlear implant experience and ≥ 12 months of stable auditory and speech recognition level volunteered for this 12-month long prospective study. For each patient, at the beginning of the study during the in-clinic session to assess the stable aided hearing thresholds and the cochlear implant integrity and patient's usage, the "Remote Check" assessment baseline values were obtained. "Remote Check" outcomes were collected at different times in the subsequent at-home sessions, to identify the patients that had to reach the Center. Chi-square test has been used for statistical analysis of the comparison of the "Remote Check" outcomes and in-clinic session results. RESULTS: "Remote Check" application outcomes demonstrated minimal or no differences between all sessions. The at-home Remote Check application reached the same clinical outcomes as the in-clinic sessions in 79 out 80 of participants (99%) with high statistical significance (p < 0.05). CONCLUSIONS: "Remote Check" application supported hearing monitoring in cochlear implant users that were not able to attend the in-clinic review during COVID-19 pandemic time. This study demonstrates that the application can be a useful routine tool also for clinical follow-up of cochlear implant users with stable aided hearing.


Asunto(s)
COVID-19 , Implantación Coclear , Implantes Cocleares , Percepción del Habla , Telemedicina , Adulto , Masculino , Femenino , Humanos , Lactante , Preescolar , Niño , Estudios Prospectivos , Pandemias
6.
Int J Mol Sci ; 24(16)2023 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-37629093

RESUMEN

Laryngeal cancer is a very common tumor in the upper aero-digestive tract. Understanding its biological mechanisms has garnered significant interest in recent years. The development of laryngeal squamous cell carcinoma (LSCC) follows a multistep process starting from precursor lesions in the epithelium. Various risk factors have been associated with laryngeal tumors, including smoking, alcohol consumption, opium use, as well as infections with HPV and EBV viruses, among others. Cancer development involves multiple steps, and genetic alterations play a crucial role. Tumor suppressor genes can be inactivated, and proto-oncogenes may become activated through mechanisms like deletions, point mutations, promoter methylation, and gene amplification. Epigenetic modifications, driven by miRNAs, have been proven to contribute to LSCC development. Despite advances in molecular medicine, there are still aspects of laryngeal cancer that remain poorly understood, and the underlying biological mechanisms have not been fully elucidated. In this narrative review, we examined the literature to analyze and summarize the main steps of carcinogenesis and the risk factors associated with laryngeal cancer.


Asunto(s)
Neoplasias Laríngeas , Humanos , Neoplasias Laríngeas/genética , Carcinogénesis/genética , Transformación Celular Neoplásica , Factores de Riesgo , Consumo de Bebidas Alcohólicas/efectos adversos
7.
Medicina (Kaunas) ; 59(11)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-38004026

RESUMEN

Fibrinogen and homocysteine (HCY) are molecules known to play a role in vascular homeostasis, and their blood levels are often elevated in patients with metabolic syndrome. Recent evidence suggests that sudden sensorineural hearing loss (SSHL) may have a vascular origin. This has led many authors to advocate that fibrinogen, homocysteine, and metabolic syndrome (MetS) may play a direct role in SSHL. The aim of this brief review is to examine the role and influence of these molecules and MetS on the mechanisms of SSHL. Elevated fibrinogen levels have been associated with a worse prognosis in SSHL, possibly due to increased blood viscosity and decreased blood flow. Similarly, HCY has been associated with vascular damage, particularly in hyperhomocysteinemia, although the exact association with SSHL remains controversial. MetS has been demonstrated to function both as a causative factor and as a contributor to poorer recovery in cases of SSHL. However, although some studies suggest a possible role for these biomarkers and MetS in the prognosis and treatment of SSHL, specific therapeutic and preventive strategies based solely on these factors have yet to be developed. Given their potential role in prognosis and treatment and the global epidemic of metabolic syndrome, this issue needs to be analyzed comprehensively. Thus, further quality studies need to be conducted, even though it is difficult to determine the actual impact of MetS on the development of SSHL, as it is a multifactorial disease affecting multiple organs.


Asunto(s)
Pérdida Auditiva Sensorineural , Pérdida Auditiva Súbita , Síndrome Metabólico , Humanos , Fibrinógeno/metabolismo , Síndrome Metabólico/complicaciones , Homocisteína , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Súbita/etiología , Pérdida Auditiva Súbita/terapia
8.
Brain ; 144(4): 1118-1126, 2021 05 07.
Artículo en Inglés | MEDLINE | ID: mdl-33855335

RESUMEN

Isolated REM sleep behaviour disorder (RBD) is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological α-synuclein in peripheral tissues of patients with isolated RBD may identify those progressing to Parkinson's disease, dementia with Lewy bodies or multiple system atrophy, with the ultimate goal of testing preventive therapies. Real-time quaking-induced conversion (RT-QuIC) provided evidence of α-synuclein seeding activity in CSF and olfactory mucosa of patients with α-synucleinopathies. The aim of this study was to explore RT-QuIC detection of α-synuclein aggregates in olfactory mucosa of a large cohort of subjects with isolated RBD compared to patients with Parkinson's disease and control subjects. This cross-sectional case-control study was performed at the Medical University of Innsbruck, Austria, the Hospital Clinic de Barcelona, Spain, and the University of Verona, Italy. Olfactory mucosa samples obtained by nasal swab in 63 patients with isolated RBD, 41 matched Parkinson's disease patients and 59 matched control subjects were analysed by α-synuclein RT-QuIC in a blinded fashion at the University of Verona, Italy. Median age of patients with isolated RBD was 70 years, 85.7% were male. All participants were tested for smell, autonomic, cognitive and motor functions. Olfactory mucosa was α-synuclein RT-QuIC positive in 44.4% isolated RBD patients, 46.3% Parkinson's disease patients and 10.2% control subjects. While the sensitivity for isolated RBD plus Parkinson's disease versus controls was 45.2%, specificity was high (89.8%). Among isolated RBD patients with positive α-synuclein RT-QuIC, 78.6% had olfactory dysfunction compared to 21.4% with negative α-synuclein RT-QuIC (P < 0.001). The extent of olfactory dysfunction was more severe in isolated RBD patients positive than negative for olfactory mucosa a-synuclein RT-QuIC (P < 0.001). We provide evidence that the α-synuclein RT-QuIC assay enables the molecular detection of neuronal α-synuclein aggregates in olfactory mucosa of patients with isolated RBD and Parkinson's disease. Although the overall sensitivity was moderate in this study, nasal swabbing is attractive as a simple, non-invasive test and might be useful as part of a screening battery to identify subjects in the prodromal stages of α-synucleinopathies. Further studies are needed to enhance sensitivity, and better understand the temporal dynamics of α-synuclein seeding in the olfactory mucosa and spreading to other brain areas during the progression from isolated RBD to overt α-synucleinopathy, as well the impact of timing, disease subgroups and sampling technique on the overall sensitivity.


Asunto(s)
Mucosa Olfatoria/metabolismo , Enfermedad de Parkinson/patología , Trastorno de la Conducta del Sueño REM/patología , alfa-Sinucleína/análisis , Anciano , Biomarcadores/análisis , Biomarcadores/metabolismo , Estudios de Casos y Controles , Estudios Transversales , Diagnóstico Precoz , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/metabolismo , Síntomas Prodrómicos , Trastorno de la Conducta del Sueño REM/metabolismo , Sensibilidad y Especificidad , alfa-Sinucleína/metabolismo
9.
Neurol Sci ; 43(1): 99-104, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34601698

RESUMEN

OBJECTIVE: It is reported that recovery from COVID-19 chemosensory deficit generally occurs in a few weeks, although olfactory dysfunction may persist longer. Here, we provide a detailed follow-up clinical investigation in a very young female patient (17-year-old) with a long-lasting anosmia after a mild infection, with partial recovery 15 months after the onset. METHODS: Neuroimaging and neurophysiologic assessments as well as olfactory mucosa swabbing for microbiological and immunocytochemical analyses were performed. Olfactory and gustatory evaluations were conducted through validated tests. RESULTS: Chemosensory evaluations were consistent with anosmia associated with parosmia phenomena and gustatory impairment, the latter less persistent. Brain MRI (3.0 T) showed no microvascular injury in olfactory bulbs and brain albeit we cannot rule out slight structural abnormalities during the acute phase, and a high-density EEG was negative. Immunocytochemistry of olfactory mucosa swabs showed high expression of ACE2 in sustentacular cells and lower dot-like cytoplasmic positivity in neuronal-shaped cells. DISCUSSION: The occurrence of long-term persistent olfactory deficit in spite of the absence of structural brain and olfactory bulb involvement supports the view of a possible persistent dysfunction of both sustentacular cells and olfactory neurons. The gustatory dysfunction even if less persisting for the described features could be related to a primary gustatory system involvement. Future longitudinal studies are needed to investigate the persistence of chemosensory impairment, which could have a relevant impact on the daily life.


Asunto(s)
COVID-19 , Trastornos del Olfato , Adolescente , Femenino , Humanos , Trastornos del Olfato/etiología , SARS-CoV-2 , Olfato , Trastornos del Gusto
10.
Int J Mol Sci ; 21(3)2020 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-32019068

RESUMEN

The early and accurate in vivo diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is essential in order to differentiate CJD from treatable rapidly progressive dementias. Diagnostic investigations supportive of clinical CJD diagnosis include magnetic resonance imaging (MRI), electroencephalogram (EEG), 14-3-3 protein detection, and/or real-time quaking-induced conversion (RT-QuIC) assay positivity in the cerebrospinal fluid (CSF) or in other tissues. The total CSF tau protein concentration has also been used in a clinical setting for improving the CJD diagnostic sensitivity and specificity. We analyzed 182 CSF samples and 42 olfactory mucosa (OM) brushings from patients suspected of having sCJD with rapidly progressive dementia (RPD), in order to determine the diagnostic accuracy of 14-3-3, the total tau protein, and the RT-QuIC assay. A probable and definite sCJD diagnosis was assessed in 102 patients. The RT-QuIC assay on the CSF samples showed a 100% specificity and a 96% sensitivity, significantly higher compared with 14-3-3 (84% sensitivity and 46% specificity) and tau (85% sensitivity and 70% specificity); however, the combination of RT-QuIC testing of the CSF and OM samples resulted in 100% sensitivity and specificity, proving a significantly higher accuracy of RT-QuIC compared with the surrogate biomarkers in the diagnostic setting of patients with RPD. Moreover, we showed that CSF blood contamination or high protein levels might interfere with RT-QuIC seeding. In conclusion, we provided further evidence that the inclusion of an RT-QuIC assay of the CSF and OM in the diagnostic criteria for sCJD has radically changed the clinical approach towards the diagnosis.


Asunto(s)
Proteínas 14-3-3/líquido cefalorraquídeo , Biomarcadores/análisis , Síndrome de Creutzfeldt-Jakob/diagnóstico por imagen , Priones/genética , Proteínas tau/líquido cefalorraquídeo , Anciano , Anciano de 80 o más Años , Electroencefalografía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mucosa Olfatoria , Estudios Prospectivos , Sensibilidad y Especificidad
11.
J Craniofac Surg ; 30(6): 1730-1733, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31033677

RESUMEN

The aim of this study is to describe the experience of a multidisciplinary skull base team with transnasal endoscopic surgery for anterior cranial base tumors.A retrospective chart review was conducted on patients who underwent an exclusive expanded transnasal approach to the anterior skull base in the period from December 2014 to November 2015. Data on patient demographics, tumor characteristics, surgical information, imaging, and postoperative complications were collected and analyzed.From a total of 120 patients with skull base diseases managed by the skull base team, 36 were admitted to this study. The overall complication rate in this series was 16.7%, gross total resection was achieved in 32 cases (88.9%) and postoperative CSF leakage occurred in 5 cases (13.9%).Our preliminary results confirm that an exclusive endoscopic transnasal approach to the anterior cranial base is a reliable technique with acceptable perioperative morbidity.


Asunto(s)
Neoplasias de la Base del Cráneo/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Pérdida de Líquido Cefalorraquídeo/etiología , Femenino , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Neuroendoscopía , Complicaciones Posoperatorias , Estudios Retrospectivos , Adulto Joven
12.
Lasers Surg Med ; 50(2): 111-116, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28906568

RESUMEN

OBJECTIVE: The current work examined a consecutive series of patients presenting vascular malformations (VMs) and venous lakes (VLs) of the lip and oral mucosa who were treated with transmucosal diode laser applications and assessed over a 1 year period. STUDY DESIGN AND METHODS: Fifty-nine patients (31 males and 28 females) presenting low-flow VMs or VLs of the oral cavity were treated transmucosally using a diode laser (with an 830 nm operating wavelength and 1.6 W output power) with a 320 µm diameter flexible fiber. All the lesions were assessed 7 days, 30 days, and 1 year after the laser treatment, and the lesion reduction percentage was scored on a one to five scale. The patients were also asked to assess their pain perception daily during the 7 days following the treatment using a visual analog scale (VAS). RESULTS: There were no procedure-related intra- or post-operative complications; only modest pain intensity was reported. Thirty days after the treatment, lesion reduction was described as excellent or good in 52 cases; it was fair or poor in 7. Six patients (F:M ratio 2:4) required a second diode laser application. At the 1 year follow-up, volume reduction was complete in 48 out of 59 patients; there were five recurrences (F:M ratio 3:2). No relevant gender-related differences were noted. CONCLUSION: The use of diode laser application to treat small oral VMs and VLs was associated to shorter operating times and fewer postoperative complications with respect to the scapel surgery approach. More than one session may nevertheless be required if the anomaly is larger than 10 mm. Lasers Surg. Med. 50:111-116, 2018. © 2017 Wiley Periodicals, Inc.


Asunto(s)
Malformaciones Arteriovenosas/radioterapia , Láseres de Semiconductores , Enfermedades de los Labios/radioterapia , Labio/irrigación sanguínea , Enfermedades de la Boca/radioterapia , Mucosa Bucal/irrigación sanguínea , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Estudios Prospectivos , Resultado del Tratamiento
13.
Eur Arch Otorhinolaryngol ; 275(5): 1095-1102, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29560508

RESUMEN

OBJECTIVE: To define a new surgical option, with lower morbidity, for the treatment of intralabyrinthine schwannomas. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral centers. PATIENTS: Eight patients affected by an intralabyrinthine schwannoma, with or without extension to the internal auditory canal, that underwent surgery with a transcanal transpromontorial approach, were included in the study. The average age at presentation was 47 years. Patients' characteristics, symptoms, tumor features, and surgical results were analyzed. INTERVENTIONS: All patients were diagnosed and evaluated pre-operatively with high-resolution, gadolinium-enhanced MRI and CT scan of the temporal bone, and underwent surgery via either transcanal transpromontorial endoscopic approach (TTEA) or enlarged transcanal transpromontorial endoscopic approach (ETTA). MAIN OUTCOME MEASURES: Hearing function was evaluated with the Hearing Classification System according to the Committee on Hearing and Equilibrium Guidelines. Facial nerve function was evaluated using the House-Brackmann grading system (HB). RESULTS: In six patients out of eight, a TTEA was performed, whereas, due to the extension of the pathology to the cerebellopontine angle, two patients underwent an ETTA. The mean follow-up period was 15.5 months (range 1-69). No intra-operative and post-operative major complications were observed. Post-operative facial nerve function was normal in seven out of eight patients (grade I HB). One patient presented a grade II HB. CONCLUSION: The endoscopic approach to cochlear schwannoma represents a good treatment option for patients and should be preferred to other more invasive surgical techniques when indicated, to reduce complications, hospitalization, and offer to patients the chance to eradicate the disease, thus avoiding the stress of a long-life radiological follow-up. LEVEL OF EVIDENCE: 4.


Asunto(s)
Neoplasias del Oído/cirugía , Endoscopía/métodos , Enfermedades del Laberinto/cirugía , Neurilemoma/cirugía , Procedimientos Quirúrgicos Otológicos/métodos , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento
14.
Med Princ Pract ; 27(5): 451-458, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29929197

RESUMEN

OBJECTIVE: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders. DESIGN: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Our subjects underwent an in-laboratory overnight respiratory polygraph between January 2012 and April 2016. All medical records were reviewed and brain Magnetic Resonance Imaging was conducted on patients with ACH, nasopharynx, oropharynx and laryngopharynx spaces. PATIENTS: Twenty-four children were enrolled, 13 with ACH, 2 with spondyloepiphyseal dysplasia, 1 with odontochondrodysplasia, 6 with OI and 2 with Ellis van Creveld Syndrome. RESULTS: Children with ACH, who had adenotonsillectomy, showed fewer sleep respiratory involvement than untreated children. Among 13 patients with ACH, brain magnetic resonance imaging was available in 10 subjects and significant negative correlation was found between sleep respiratory patterns, nasopharynx and oropharynx space (p < 0.05). In 2 patients with spondyloepiphyseal dysplasia, mild-to-moderate sleep respiratory involvement was found. Both subjects had a history of adenotonsillectomy. Mild sleep respiratory involvement was also observed in 4 out of 6 patients with OI. One patient with Ellis van Creveld syndrome had mild sleep respiratory disturbance. CONCLUSIONS: Sleep respiratory disturbances were detected in children with ACH, and with less severity also in OI and Ellis van Creveld syndrome. Adenotonsillectomy was successful in ACH in reducing symptoms. In light of our findings, multicenter studies are needed to obtain further information on these rare skeletal diseases.


Asunto(s)
Osteocondrodisplasias/complicaciones , Síndromes de la Apnea del Sueño/complicaciones , Acondroplasia , Adenoidectomía , Adolescente , Niño , Preescolar , Síndrome de Ellis-Van Creveld , Femenino , Humanos , Italia , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Osteogénesis Imperfecta , Estudios Retrospectivos , Síndromes de la Apnea del Sueño/cirugía , Tonsilectomía , Resultado del Tratamiento
15.
Childs Nerv Syst ; 33(5): 829-832, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28382434

RESUMEN

INTRODUCTION: Type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to intermittent brain hypertension. In symptomatic children, central sleep apneas are shown in polysomnography evaluation. A central apnea index of 1/h or more is considered abnormal, but >5/h is clearly considered pathological. Therefore, central sleep apnea evaluation in pediatric age may show great age-related variability. METHOD AND SUBJECTS: We present three patients who were assessed by polysomnography with two different scores for central sleep apneas published in the literature: the method by Scholle (2011) and the American Academy of Sleep Medicine scoring system (2012). CONCLUSIONS: We speculated that the Scholle scoring system can be more helpful in assessing children with asymptomatic Chiari 1 malformation for a closer follow-up. More studies are needed.


Asunto(s)
Malformación de Arnold-Chiari/complicaciones , Malformación de Arnold-Chiari/diagnóstico por imagen , Enfermedades Asintomáticas , Apnea Central del Sueño/complicaciones , Apnea Central del Sueño/diagnóstico por imagen , Niño , Preescolar , Femenino , Humanos , Masculino
16.
Acta Otorhinolaryngol Ital ; 44(3): 161-168, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38712520

RESUMEN

Objective: The primary focus of this study was to analyze the adoption of ChatGPT among Ear, Nose, and Throat (ENT) trainees, encompassing its role in scientific research and personal study. We examined in which year ENT trainees become involved in clinical research and how many scientific investigations they have been engaged in. Methods: An online survey was distributed to ENT residents employed in Italian University Hospitals. Results: Out of 609 Italian ENT trainees, 181 (29.7%) responded to the survey. Among these, 67.4% were familiar with ChatGPT, and 18.9% of them used artificial intelligence as a tool for research and study. In all, 32.6% were not familiar with ChatGPT and its functions. Within our sample, there was an increasing trend of participation by ENT trainees in scientific publications throughout their training. Conclusions: ChatGPT remains relatively unfamiliar and underutilised in Italy, even though it could be a valuable and efficient tool for ENT trainees, providing quick access for study and research through both personal computers and smartphones.


Asunto(s)
Inteligencia Artificial , Internado y Residencia , Otolaringología , Otolaringología/educación , Humanos , Italia , Encuestas y Cuestionarios , Masculino , Femenino , Adulto
17.
Indian J Otolaryngol Head Neck Surg ; 76(1): 224-236, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38440666

RESUMEN

Subtotal petrosectomy (STP) is characterized by obliteration of the middle ear and occlusion of the external auditory canal. The advent of the endoscope has allowed a reduction in morbidity for some conditions such as cholesteatoma and other middle ear disorders, but STP still plays an important role. A retrospective review of medical records and videos of patients who had undergone STP was performed. Perioperative data and images were collected from various clinical cases who had undergone subtotal petrosectomy at our tertiary referral university hospital in Verona. We confronted our experience with a review of the literature to present the main indications for this type of procedure. STP allows a variety of diseases to be managed effectively as it offers the possibility of a definitive healing with radical clearance of temporal bone. Moreover, it can be safely combined with other procedures with a very low complication rate. Although the endoscope represents a revolution in ear surgery, STP, when indicated, is nowadays a surgical option that should be included in the otosurgeon's portfolio.

18.
Children (Basel) ; 11(4)2024 Mar 24.
Artículo en Inglés | MEDLINE | ID: mdl-38671605

RESUMEN

(1) Background: Sleep-disordered breathing represents a growing public health concern, especially among children and adolescents. The main risk factors for pediatric sleep-disordered breathing in school-age children are tonsillar and adenoid hypertrophy. Adenoidectomy, often in combination with tonsillectomy, is the primary treatment modality for pediatric sleep-disordered breathing. This study aims to comprehensively investigate various risk and protective factors in children with sleep-disordered breathing undergoing adenotonsillar or adenoidal surgeries. We also aim to explore the differences in neuropsychological profiles. (2) Methods: This is an observational, retrospective cohort study. We collected information on adenoidectomy or adenotonsillectomy in children referred to our center. We reviewed the clinical history and preoperative visits and collected data through a telephone questionnaire. The Pediatric Sleep Questionnaire (PSQ) and the Pediatric Quality of Life Inventory (PedsQL) screen sleep-disordered breathing and quality of life, respectively. The data were statistically analyzed using SPSS version 22.0 for Windows (SPSS Inc., Chicago, IL, USA). (3) Results: The study involved 138 patients, but only 100 children participated. A higher percentage of patients with sleep-disordered breathing were observed to have mothers who smoked during pregnancy. A smaller proportion of patients with sleep-disordered breathing habitually used a pacifier. A rise in physical score was associated with a reduced PSQ at follow-up (p = 0.051). An increase in the overall academic score was related to a decrease in the PSQ at follow-up (p < 0.001). A more significant proportion of patients undergoing adenotonsillectomy were observed to have a history of prematurity and cesarean birth. (4) This comprehensive study delves into the intricate interplay of risk and protective factors impacting children with sleep-disordered breathing undergoing adenotonsillectomy and adenoidectomy.

19.
J Biomed Mater Res A ; 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38783716

RESUMEN

Population aging, reduced economic capacity, and neglecting the treatments for oral pathologies, are the main causal factors for about 3 billion individuals who are suffering from partial/total edentulism or alveolar bone resorption: thus, the demand for dental implants is increasingly growing. To achieve a good prognosis for implant-supported restorations, adequate peri-implant bone volume is mandatory. The Guided Bone Regeneration (GBR) technique is one of the most applied methods for alveolar bone reconstruction and treatment of peri-implant bone deficiencies. This technique involves the use of different types of membranes in association with some bone substitutes (autologous, homologous, or heterologous). However, time for bone regeneration is often too long and the bone quality is not simply predictable. This study aims at engineering and evaluating the efficacy of modified barrier membranes, enhancing their bioactivity for improved alveolar bone tissue regeneration. We investigated membranes functionalized with chitosan (CS) and chitosan combined with the peptide GBMP1α (CS + GBMP1α), to improve bone growth. OsseoGuard® membranes, derived from bovine Achilles tendon type I collagen crosslinked with formaldehyde, were modified using CS and CS + GBMP1α. The functionalization, carried out with 1-ethyl-3-(3 dimethylaminopropyl)carbodiimide and sulfo-N-Hydroxysuccinimide (EDC/sulfo-NHS), was assessed through FT-IR and XPS analyses. Biological assays were performed by directly seeding human osteoblasts onto the materials to assess cell proliferation, mineralization, gene expression of Secreted Phosphoprotein 1 (SPP1) and Runt-Related Transcription Factor 2 (Runx2), and antibacterial properties. Both CS and CS + GBMP1α functionalizations significantly enhanced human osteoblast proliferation, mineralization, gene expression, and antibacterial activity compared to commercial membranes. The CS + GBMP1α functionalization exhibited superior outcomes in all biological assays. Mechanical tests showed no significant alterations of membrane biomechanical properties post-functionalization. The engineered membranes, especially those functionalized with CS + GBMP1α, are suitable for GBR applications thanks to their ability to enhance osteoblast activity and promote bone tissue regeneration. These findings suggest a potential advancement in the treatment of oral cavity problems requiring bone regeneration.

20.
J Int Adv Otol ; 19(6): 503-510, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38088324

RESUMEN

BACKGROUND: Variations along the facial nerve (FN) course present considerable challenges in the surgical treatment of otosclerosis, often complicating the procedure. Existing knowledge of its tympanic tract and its implications primarily comes from microscopical procedures. This study aims to assess endoscopic findings of FN anatomy in a healthy tympanic cavity and its impact on the stapedotomy procedure, focusing on the risk of complications and functional hearing outcomes. METHODS: A retrospective study on exclusive endoscopic stapedotoplasties between October 2014 and October 2021 at our Otorhinolaryngology University Department was carried out. An evaluation of intraoperative endoscopic findings reviewed in surgical descriptive and/or video records was conducted to assess their potential negative impact on the surgery. Demographic data, preoperative and postoperative hearing thresholds, as well as intraoperative and postoperative complications were analyzed. RESULTS: One hundred fifty-seven subjects were included. A FN partially overhanging the oval window was observed in 7.3% (n=12): 10 prolapsing with bony canal dehiscence and 2 without any detected dehiscence. Each procedure was successfully completed without any issues related to the anomalous anatomy, and in no case, switching to the microscope for the handling of the prosthesis near the dehiscent nerve was required. No facial paralysis occurred, with an early- or long-term postoperative House-Brackman grade of 1 (n=157, 100%). Only 3/157 patients (1.9%) showed a sensorineural threshold reduction of ≥20 dB HL, but a significant air-bone gap improvement was observed (mean closure of 18.36 dB HL, P -lt; .0001). CONCLUSION: The endoscope promotes a concrete description of tympanic FN anatomy, and endoscopic stapes surgery appears to be a safe and viable option when dehiscent or prolapsed FNs reduce the footplate's exposure.


Asunto(s)
Otosclerosis , Cirugía del Estribo , Humanos , Nervio Facial/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Cirugía del Estribo/métodos , Estribo , Otosclerosis/cirugía , Otosclerosis/complicaciones
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