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1.
OTO Open ; 7(2): e59, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37333569

RESUMEN

Objective: To report the efficacy of office-based blue laser therapy for vocal fold leukoplakia. Study Design: A retrospective case series. Setting: A tertiary care center. Methods: A retrospective chart review of patients with vocal fold leukoplakia who underwent office-based blue laser therapy between July 2019 and October 2022 was conducted. The video recordings of their laryngeal examination and their voice evaluation were analyzed before and after surgical intervention. Results: A total of 10 patients, eight with unilateral disease and 2 with bilateral disease, were included in this study. In total, 12 vocal folds with leukoplakia were treated. Nine had a single session and 3 had 2 sessions due to incomplete regression of the lesion after the first laser therapy session. Following treatment, 9 regressed completely (75%) and 3 regressed partially (25%). The mean Voice Handicap Index-10 (VHI-10) score decreased significantly from 15.4 ± 12.9 preoperatively to 3.8 ± 2.86 after surgery (p = .023). There was a statistically significant decrease in the means of grade, roughness, breathiness, asthenia, and strain (p < .05). There was also a statistically significant decrease in the jitter and shimmer percent (p = .008 and p = .048, respectively) and a significant increase in the maximum phonation time from 9.63 ± 3.83 to 13.54 ± 5.92 seconds (p = .039). Conclusion: This preliminary study indicates that office-based blue laser therapy is an effective treatment modality for vocal fold leukoplakia.

2.
Ann Otol Rhinol Laryngol ; 130(9): 1093-1099, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33615825

RESUMEN

OBJECTIVE: The effect of hearing aid use on the evolution of presbycusis has not been well described in the literature, with only a handful of publications addressing this topic. This paper aims to evaluate the long-term use of amplification and its effect on pure-tone thresholds and word recognition scores. METHOD: Monaurally fitted patients were followed with serial audiograms. Data was collected from hearing aid centers. Seventy-seven patients with presbycusis met the inclusion criteria and participated in the present study. The progression of hearing loss in both pure tone thresholds and word recognition scores were compared between the hearing aid ears (HA), and the non-hearing aid ears (NHA). Pure tone thresholds were analyzed by comparing the pure tone average at the initial and last audiograms. Word Recognition Scores (WRS) were analyzed using the model of Thornton and Raffin (1978), and by comparing the change in the absolute values of WRS from the initial to the last audiogram between the HA ear and the NHA ear. RESULTS: No significant difference in pure-tone thresholds between the HA ear and NHA ear was found at the last audiogram (P = .696), even after dividing the patients into groups based on the duration of amplification. Both methods of analysis of patients' WRS showed a statistically significant worsening in NHA (P < .05). CONCLUSION: The present study supports the previously defined auditory deprivation effect on non-fitted ears, which showed worsening of word recognition over time and no effect on pure tone average. It provides an additional argument for the counseling of patients with presbycusis considering amplification, and highlights the importance of bilateral amplification in preserving the residual hearing of hearing impaired patients.


Asunto(s)
Corrección de Deficiencia Auditiva/métodos , Audífonos , Presbiacusia/rehabilitación , Percepción del Habla , Anciano , Anciano de 80 o más Años , Audiometría de Tonos Puros , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Presbiacusia/fisiopatología , Factores de Tiempo
4.
BMC Med Genet ; 21(1): 1, 2020 01 02.
Artículo en Inglés | MEDLINE | ID: mdl-31898538

RESUMEN

BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. METHODS: In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods. RESULTS: Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function. CONCLUSION: A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.


Asunto(s)
Heterogeneidad Genética , Pérdida Auditiva Sensorineural/genética , Factor de Transcripción Asociado a Microftalmía/genética , Miosinas/genética , Edad de Inicio , Alelos , Niño , Femenino , Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/fisiopatología , Heterocigoto , Homocigoto , Humanos , Masculino , Herencia Multifactorial/genética , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Secuenciación del Exoma
5.
Genet Test Mol Biomarkers ; 21(7): 445-449, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28426234

RESUMEN

AIM: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects. RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members. Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affected family members, whereas nonaffected members either had the wild type or one copy of the mutated allele. DISCUSSION: Mutations affecting the OTOGL gene have been recently connected with nonsyndromic sensorineural hearing loss. Seven such mutations have already been described. The p.Arg925* reported in this study has been found once in a French family. The current report is the first to describe this mutation in a Middle Eastern family.


Asunto(s)
Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva/genética , Proteínas de la Membrana/genética , Adulto , Alelos , Sordera/genética , Exoma , Femenino , Estudios de Asociación Genética/métodos , Predisposición Genética a la Enfermedad , Humanos , Líbano , Masculino , Proteínas de la Membrana/metabolismo , Mutación , Linaje , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Análisis de Secuencia de ADN , Siria
6.
J Med Liban ; 64(4): 245-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-29846053

RESUMEN

Importance: Description of a primary inverted papilloma of the ethmoid sinus. This has never been documented before in the literature. Observation: The clinical presentation, along with the radiographic features, gross findings and management will be discussed. Conclusions and Relevance: In contrast to the vast majority of cases that present with nasal complaints, the clinical presentation of an inverted papilloma confined to the ethmoid sinus was incidental. Radiologic findings are nonspecific. Functional endoscopic sinus surgery with total removal of the mass is the therapy of choice to reach a final pathologic diagnosis, prevent recurrence and other sequelae.


Asunto(s)
Senos Etmoidales/diagnóstico por imagen , Papiloma Invertido/diagnóstico por imagen , Neoplasias de los Senos Paranasales/diagnóstico por imagen , Endoscopía/métodos , Senos Etmoidales/cirugía , Femenino , Humanos , Persona de Mediana Edad , Papiloma Invertido/cirugía , Neoplasias de los Senos Paranasales/cirugía
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