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1.
Clin Otolaryngol ; 49(1): 41-61, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37885344

RESUMEN

OBJECTIVES: To assess outcomes associated with photobiomodulation therapy (PBMT) for hearing loss in human and animal studies. DESIGN: Systematic review and narrative synthesis in accordance with PRISMA guidelines. SETTING: Data bases searched: MEDLINE, EMBASE, CENTRAL, ClinicalTrials.gov and Web of Science. No limits were placed on language or year of publication. Review conducted in accordance with the PRISMA 2020 statement. PARTICIPANTS: All human and animal subjects treated with PBMT for hearing loss. MAIN OUTCOME MEASURES: Pre- and post-PBMT audio metric outcomes. RESULTS: Searches identified 122 abstracts and 49 full text articles. Of these, 17 studies met the inclusion criteria, reporting outcomes in 327 animals (11 studies), 30 humans (1 study), and 40 animal specimens (5 studies). PBMT parameters included 6 different wavelengths: 908 nm (1 study), 810 nm (1 study), 532 & 635 nm (1 study), 830 nm (3 studies), 808 nm (11 studies). The duration ranged from 4 to 60 minutes in a session, and the follow-up ranged from 5-28 days. Outcomes improved significantly when wavelengths within the range of 800-830 nm were used, and with greater duration of PBMT exposure. Included studies predominantly consisted of non-randomized controlled trials (10 studies). CONCLUSIONS: Hearing outcomes following PBMT appear to be superior to no PBMT for subjects with hearing loss, although higher level evidence is required to verify this. PBMT enables concentrated, focused delivery of light therapy to the inner ear through a non-invasive manner with minimal side effects. As a result of heterogeneity in reporting PBMT parameters and outcomes across the included studies, direct comparison is challenging.


Asunto(s)
Pérdida Auditiva , Terapia por Luz de Baja Intensidad , Animales , Humanos , Audición , Pérdida Auditiva/radioterapia
2.
Genet Med ; 21(4): 904-912, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30214067

RESUMEN

PURPOSE: To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders. METHODS: In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by targeted amplicon sequencing and/or PyroMark® Q24. RESULTS: We observed somatic coding variants present in >10% of sampled cells in at least 1% of brains. The mutational signature of the detected variants showed a predominance of C>T variants most consistent with arising from DNA mismatch repair, occurred frequently in genes that are highly expressed within the central nervous system, and with a minimum somatic mutation rate of 4.25 × 10-10 per base pair per individual. CONCLUSION: These findings provide proof-of-principle that deleterious somatic variants can affect sizeable brain regions in at least 1% of the population, and thus have the potential to contribute to the pathogenesis of common neurodegenerative diseases.


Asunto(s)
Encéfalo/metabolismo , Reparación de la Incompatibilidad de ADN/genética , Exoma/genética , Enfermedades Genéticas Congénitas/genética , Encéfalo/patología , Enfermedades Genéticas Congénitas/diagnóstico , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mutación , Análisis de Secuencia de ADN , Secuenciación del Exoma
3.
Brain ; 141(1): 55-62, 2018 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-29182774

RESUMEN

The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease.


Asunto(s)
Proteínas de Unión al ADN/genética , Salud de la Familia , Pérdida Auditiva/genética , Proteínas Mitocondriales/genética , Mutación/genética , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Complejo II de Transporte de Electrones/metabolismo , Complejo IV de Transporte de Electrones/metabolismo , Femenino , Fibroblastos/metabolismo , Fibroblastos/patología , Pérdida Auditiva/complicaciones , Heterocigoto , Humanos , Lactante , Masculino , Enfermedades Mitocondriales/complicaciones , Enfermedades Mitocondriales/genética , ATPasas de Translocación de Protón Mitocondriales/metabolismo , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Músculo Esquelético/ultraestructura , Adulto Joven
4.
Otolaryngol Clin North Am ; 56(5): 897-908, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37550109

RESUMEN

Keratosis obturans (KO) and external auditory canal cholesteatoma (EACC) are two distinct keratinaceous lesions of the external ear. This article reviews the signs, symptoms, pathophysiology, workup, and treatment of each. Patients with either pathology can often be managed in the clinic with debridement; however, EACC is more likely to involve osteonecrosis and require more extensive operative management if disease is not confined to the canal on account of the bony erosion characteristic of cholesteatoma. If required for extensive disease, surgical approaches to both pathologies are similar.


Asunto(s)
Colesteatoma , Enfermedades del Oído , Queratosis , Humanos , Conducto Auditivo Externo/diagnóstico por imagen , Conducto Auditivo Externo/cirugía , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/cirugía , Colesteatoma/diagnóstico , Colesteatoma/cirugía , Queratosis/diagnóstico , Queratosis/patología , Queratosis/cirugía , Estudios Retrospectivos
5.
J Clin Med ; 12(20)2023 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-37892692

RESUMEN

IMPORTANCE: Chronic subjective tinnitus, the perception of sound without an external source for longer than six months, may be a greatly debilitating condition for some people, and is associated with psychiatric comorbidities and high healthcare costs. Current treatments are not beneficial for all patients and there is a large need for new therapies for tinnitus. OBSERVATIONS: Unlike rarer cases of objective tinnitus, chronic subjective tinnitus often has no obvious etiology and a diverse pathophysiology. In the absence of objective testing, diagnosis is heavily based on clinical assessment. Management strategies include hearing aids, sound masking, tinnitus retraining therapy, cognitive behavioral therapy, and emerging therapies including transcranial magnetic stimulation and electrical stimulation. CONCLUSIONS AND RELEVANCE: Although current treatments are limited, emerging diagnostics and treatments provide promising avenues for the management of tinnitus symptoms.

6.
J Laryngol Otol ; : 1-22, 2023 Nov 23.
Artículo en Inglés | MEDLINE | ID: mdl-37994052

RESUMEN

OBJECTIVE: To establish outcomes following photobiomodulation therapy for tinnitus in humans and animal studies. METHODS: A systematic review and narrative synthesis was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. The databases searched were: Medline, Embase, Cochrane Central Register of Controlled Trials ('Central'), ClinicalTrials.gov and Web of Science including the Web of Science Core collection. There were no limits on language or year of publication. RESULTS: The searches identified 194 abstracts and 61 full texts. Twenty-eight studies met the inclusion criteria, reporting outcomes in 1483 humans (26 studies) and 34 animals (2 studies). Photobiomodulation therapy parameters included 10 different wavelengths, and duration ranged from 9 seconds to 30 minutes per session. Follow up ranged from 7 days to 6 months. CONCLUSION: Tinnitus outcomes following photobiomodulation therapy are generally positive and superior to no photobiomodulation therapy; however, evidence of long-term therapeutic benefit is deficient. Photobiomodulation therapy enables concentrated, focused delivery of light therapy to the inner ear through a non-invasive manner, with minimal side effects.

8.
J Int Adv Otol ; 18(1): 71-73, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35193849

RESUMEN

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome is a multisystem, progressive neurodegenerative condition, and the most common mitochondrial cytopathy. While not a primary characteristic, sensorineural hearing loss is a common additional symptom reported in up to 78% of cases. This article presents 2 cases of cochlear implantation in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. Both cases demonstrated significantly improved speech recognition, with results significantly better than previous case reports. Cochlear implants are an appropriate treatment for severe-profound hearing loss in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. While anesthetic risks and cognitive skills need to be taken into consideration, routine programming and rehabilitation pathways may be appropriate for this cohort.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Síndrome de Kearns-Sayre , Síndrome MELAS , Miopatías Mitocondriales , Humanos , Síndrome MELAS/complicaciones , Síndrome MELAS/diagnóstico
9.
World J Surg Oncol ; 9: 115, 2011 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-21967981

RESUMEN

We present the first case of a head and neck oncological procedure accomplished in a Jehovah's Witness using the Ultracision Harmonic Scalpel (Ethicon, Cincinnati, OH). Jehovah's Witnesses present a serious challenge to the head and neck cancer surgeon due to their refusal to accept transfusion of any blood products. However, our experience reinforces the view that surgical management of head and neck cancer is possible in these patients. We show the Harmonic Scalpel, an ultrasonic tissue dissector, to be a useful surgical tool in obviating the need for blood transfusion. Preoperative optimisation, intra-operative surgical and anaesthetic techniques are also fully discussed.


Asunto(s)
Pérdida de Sangre Quirúrgica/prevención & control , Carcinoma de Células Escamosas/cirugía , Testigos de Jehová , Neoplasias de la Boca/cirugía , Instrumentos Quirúrgicos , Transfusión Sanguínea , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Persona de Mediana Edad , Neoplasias de la Boca/patología , Cuidados Preoperatorios , Colgajos Quirúrgicos , Resultado del Tratamiento
10.
Cureus ; 13(1): e12694, 2021 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-33489634

RESUMEN

Since its introduction in 2008, the Karl Storz 4K 3D VITOM® exoscope (Karl Storz SE & Co. KG, Tuttlingen, Germany) has been successfully used in various surgical disciplines. This paper describes our department's experience using this technology and its use in the first total thyroidectomy case. The set up of the 3D VITOM exoscope in the operating theatre allows for a user-friendly approach to thyroid surgery with the exoscope placed out of the line of sight of the surgeon with a monitor placed directly ahead. The surgeon has a control panel within reach, which allows for adjustments to image magnification and focus. The use of the 3D VITOM exoscope has the potential to confer significant improvements in patient outcomes by promoting efficient and safer surgery through superior operative visualisation.

11.
J Int Adv Otol ; 17(1): 72-80, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33605225

RESUMEN

This study's aim was to establish outcomes following cochlear implantation (CI) in patients with mitochondrial disorders associated with deafness. Systematic review and narrative synthesis. Databases searched: Medline, EMBASE, Web of Science, COCHRANE, and ClinicalTrials.gov. No limits on language or year of publication. Review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Searches identified 437 abstracts and 37 full text articles, of which 11 studies met the inclusion criteria reporting outcomes in a total of 17 patients. All implants achieved good hearing outcomes, and follow-up ranged between 1 week and 12 months. The methodological quality of the included studies was sufficient, scoring grades 3 to 4 using the Oxford Centre for Evidence Based Medicine grading system. All studies were retrospective and consisted of case reviews and case reports. All cases of CI showed positive outcomes in speech perception and detection. There is some qualitative evidence to suggest improvement in quality of life and satisfaction postoperatively. There was very limited information available on secondary outcomes such as surgical complications, quality of life, and method of cochlear implant insertion. The small sample size of our patient cohort and quality of studies suggests a need for large-scale studies with more robust methodology to assess the effectiveness of CI. There is a need for studies that assess other factors to be considered when counseling patients about cochlear implants, such as adverse events, surgical complications, and long-term benefits.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Pérdida Auditiva , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Pérdida Auditiva/cirugía , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Estudios Retrospectivos
12.
World J Surg Oncol ; 7: 55, 2009 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-19549298

RESUMEN

BACKGROUND: Hepatic embryonal sarcoma (HES) is a rare but aggressive primary tumor of the liver occurring most frequently in childhood. CASE PRESENTATION: We report a case of a 52 year old woman having previously undergone treatment for ovarian serous papillary carcinoma who subsequently presented with a large solitary mass in the liver. Initially this was presumed to be metastasis from the ovarian primary however, on further examination it was shown to be a primary hepatic embryonal sarcoma. CONCLUSION: Primary liver tumors should be considered in differential diagnoses in patients with ovarian cancer who subsequently present with liver tumors. This is particularly important when there is no direct evidence of recurrence of ovarian cancer.


Asunto(s)
Carcinoma Papilar/patología , Cistadenocarcinoma Seroso/patología , Neoplasias Hepáticas/patología , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias Primarias Secundarias/patología , Neoplasias Ováricas/patología , Sarcoma/patología , Antígeno Ca-125/sangre , Femenino , Humanos , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/terapia , Persona de Mediana Edad , Neoplasias de Células Germinales y Embrionarias/terapia , Sarcoma/terapia
16.
Case Rep Otolaryngol ; 2013: 259726, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23762704

RESUMEN

Objective. To present a case of otic Langerhans' cell histiocytosis in an adult. Also included the diagnosis and management of the condition and a review of the relevant literature. Case Report. We report a case of a 41-year-old man with a history of persistent unilateral ear discharge associated with an aural polyp. Radiological imaging showed bony lesions of the skull and a soft-tissue mass within the middle ear. Histological analysis of the polyp demonstrated Langerhans' cell histiocytosis. His otological symptoms were completely resolved with the systemic therapy. Conclusions. Otic Langerhans' cell histiocytosis can present in adults. Persistent ear symptoms along with evidence of soft-tissue masses within the ear and bony lesions of the skull or elsewhere should prompt the otolaryngologists to include Langerhans' cell histiocytosis in their differential diagnosis. Management should be with systemic therapy rather than local surgical treatment.

17.
Surgery ; 30(11): 590-596, 2012 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-27057069

RESUMEN

Infections play a major role in the practice of ENT. Microbial penetration into tissues of the head and neck can initiate a focal reaction causing superficial self-resolving infections. However, some of these have the potential to develop into life-threatening disease. We provide an overview of the most common ENT infections with focus on the presentation, diagnosis and management. Foreign bodies of the ear, nose and throat are a common presentation to primary and emergency care. Most commonly these are seen in children and include plastic toys, beads and foodstuffs inserted into the ears and nose. Diagnosis is often delayed as insertion is usually not witnessed. In exceptional cases airway foreign bodies can present as a life-threatening emergency. Removal of foreign bodies can usually be achieved by a skilled practitioner with minimal complications. Methods of removal include suction catheters, syringing, and use of instrumentation. In adults, the treatment of oesophageal food bolus obstruction may require a combination of medical and surgical intervention.

19.
Cochlear Implants Int ; 11(3): 133-45, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19655296

RESUMEN

In October 2007, Primary Care Trusts throughout the East of England agreed to fund assessment and implantation for all patients referred to Cambridge University Hospitals' Cochlear Implant Unit ('the Unit') providing they met locally agreed criteria. Subsequently, the Unit has employed Lean Thinking techniques to maximize departmental efficiency in order to comply with the Department of Health's 18-week guideline. Analysis of the patient's pathway, from referral to implantation surgery, highlighted areas of 'waste' that were causing delays in downstream processes. Through a number of streamlining measures a large waiting list of long-waiting patients (n = 141) has been cleared. Of those patients not receiving a preliminary hearing aid trial, 89% were implanted within 18 weeks (31/35 patients). Of those receiving the hearing aid trial 100% were assessed and commenced on the trial within 18 weeks, and 47% received implantation within the allotted time frame (7/15 patients). The Unit is continuing to monitor these processes to ensure these change s are continuing to maintain shorter waiting times. Equally, patients must feel that they have received optimal care and received sufficient information throughout the entire patient pathway.


Asunto(s)
Implantación Coclear/estadística & datos numéricos , Vías Clínicas , Adhesión a Directriz , Accesibilidad a los Servicios de Salud , Pérdida Auditiva/cirugía , Listas de Espera , Adulto , Citas y Horarios , Niño , Vías Clínicas/organización & administración , Vías Clínicas/normas , Vías Clínicas/estadística & datos numéricos , Eficiencia Organizacional , Inglaterra/epidemiología , Adhesión a Directriz/organización & administración , Adhesión a Directriz/normas , Adhesión a Directriz/estadística & datos numéricos , Accesibilidad a los Servicios de Salud/organización & administración , Accesibilidad a los Servicios de Salud/normas , Accesibilidad a los Servicios de Salud/estadística & datos numéricos , Pérdida Auditiva/epidemiología , Hospitales Públicos/organización & administración , Hospitales Públicos/normas , Hospitales Públicos/estadística & datos numéricos , Hospitales Universitarios/organización & administración , Hospitales Universitarios/normas , Hospitales Universitarios/estadística & datos numéricos , Humanos , Modelos Organizacionales , Evaluación de Programas y Proyectos de Salud , Derivación y Consulta/organización & administración , Derivación y Consulta/normas , Derivación y Consulta/estadística & datos numéricos
20.
World J Emerg Surg ; 3: 22, 2008 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-18644114

RESUMEN

Endovascular stenting has been successfully employed in the management of aortic aneurysms; however, its use in managing peripheral arterial conditions remains questionable. We review the utility of endovascular technique in the management of peripheral arterial conditions like aneurysms, pseudoaneurysms and arterio-venous fistulas in the emergency setting. Though long term data about graft patency rates is not yet available, the endovascular approach appears to be a useful minimally invasive technique in situations where open repair is either difficult or not feasible.

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