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Radiotherapy in patients with head and neck cancer fairly leads to xerostomia, profoundly affecting their quality of life. With limited effective preventive and therapeutic methods, attention has turned to exploring alternatives. This article outlines how intraglandular injection of mitochondria-boosting agents can serve as a potential strategy to reduce salivary acinar damage. This method can contribute to the thoughtful development of study protocols or medications to reduce radiation-induced salivary glands damage.
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Neoplasias de Cabeza y Cuello , Mitocondrias , Glándulas Salivales , Xerostomía , Xerostomía/etiología , Xerostomía/prevención & control , Humanos , Mitocondrias/efectos de los fármacos , Mitocondrias/efectos de la radiación , Neoplasias de Cabeza y Cuello/radioterapia , Glándulas Salivales/efectos de la radiación , Glándulas Salivales/efectos de los fármacos , Glándulas Salivales/patología , Traumatismos por Radiación/prevención & control , Traumatismos por Radiación/etiología , Animales , Radioterapia/efectos adversos , Radioterapia/métodos , Calidad de VidaRESUMEN
OBJECTIVES: The present study aimed to assess the features, clinical characteristics, and species diversity among patients admitted to referral Hospitals for SARS-CoV-2 pneumonia and mucormycosis in Tehran, Iran, and the relationship between seasonal and species diversity was considered. METHODS: Confirmed COVID-19 patients with a positive reverse-transcriptase real-time (rRT-PCR) test for SARS-CoV2 were primarily included based on clinically suspected mucormycosis infection and confirmed by histopathology and mycology examination of biopsy specimens. The PCR technique was performed by the amplification of the high-affinity iron permease 1 (FTR1) gene for identification and discrimination between Rhizopus arrhizus and non- Rhizopus arrhizus isolates. In contrast, species identification of non-Rhizopus arrhizus was performed by sequencing of ITS rDNA region. RESULTS: Rhino-sino-orbital mucormycosis was identified in the majority of cases (n = 33), with 66 % and 34 % of the cases involving male and female patients, respectively. Rhizopus arrhizus was found to be the most prevalent (84.6 %), followed by Mucor circinelloides (7.6 %). Rhizopus arrhizus was the most prevalent species and present in all the seasons; however, Mucor circinelloides was only present in the autumn. The overall mortality of the total population was 24.6 % (16/ 65); the mortality rates occurring in patients diagnosed with rhino-sino-orbital infection and rhino-sinusal form were 21.4 % and 25 %, respectively. CONCLUSION: CAM can be a serious complication of severe COVID-19, especially in patients with uncontrolled diabetes. It is important to monitor the epidemiology of mucormycosis to raise awareness of the disease and improve diagnosis, treatment and prognosis, particularly in the setting of pandemic.
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COVID-19 , Mucormicosis , SARS-CoV-2 , Humanos , Mucormicosis/epidemiología , Mucormicosis/microbiología , Mucormicosis/diagnóstico , COVID-19/complicaciones , COVID-19/epidemiología , Irán/epidemiología , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , SARS-CoV-2/genética , Rhizopus/aislamiento & purificación , Rhizopus/genética , Adulto Joven , Mucor/aislamiento & purificación , Mucor/genética , Derivación y Consulta/estadística & datos numéricos , Estaciones del Año , Enfermedades Orbitales/microbiología , Enfermedades Orbitales/epidemiologíaRESUMEN
BACKGROUND: Psammomatoid ossifying fibroma (POF) is a rare craniofacial neoplasm, primarily affecting the maxillofacial region, and typically observed in adolescents and young adults. This case report presents a unique occurrence of POF in a 50-year-old male, defying the conventional age range and exhibiting an unusual anatomical location within the frontal sinus. CASE: A 50-year-old male with a prior history of cecal adenocarcinoma and colectomy presented with left eye proptosis and new-onset headaches. Imaging revealed a well-defined calcified mass in the left frontal sinus, leading to a diagnosis of POF. Open surgical resection was performed to remove the tumor, and histopathological evaluation confirmed its diagnosis as psammomatoid ossifying fibroma. The patient exhibited no postoperative complications or signs of recurrence. CONCLUSION: This case underscores the diverse clinical presentations and diagnostic challenges associated with POF, emphasizing the importance of accurate diagnosis and multidisciplinary collaboration. Further research is needed to explore the genetic underpinnings and optimal management strategies for this intriguing condition.
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Fibroma Osificante , Seno Frontal , Neoplasias de los Tejidos Blandos , Masculino , Adolescente , Humanos , Persona de Mediana Edad , Fibroma Osificante/diagnóstico por imagen , Fibroma Osificante/cirugía , Seno Frontal/diagnóstico por imagen , Seno Frontal/cirugía , Seno Frontal/patología , Tomografía Computarizada por Rayos X , Neoplasias de los Tejidos Blandos/patologíaRESUMEN
Nasal Septal Deviation (NSD) is a common sign in otorhinolaryngology that can lead to facial asymmetry. In this case-control observational study, we assessed the role of EMG and NCS in the diagnosis of NSD and its effect on neuromuscular function. Participants were divided into two groups based on paranasal sinus computed tomography scan (PNS CT) results: NSD cases (n = 21) and controls without NSD (n = 13). EMG and NCS were performed on both groups to assess nasal alar muscles at the root of the zygomatic nerve. Our findings showed a significant correlation between NSD and EMG/NCS tests (P-value = 000) and a significant association between septal deviation and nasal alar lateralization (P-value = 000). EMG/NCS can be useful in assessing NSD by providing a better understanding of related neuromuscular structures and neuromuscular function of the nasal alar dilator muscles and aid in the diagnosis of NSD. Nasal Septal Deviation, EMG (electromyography), NCS (nerve conduction studies), Neuromuscular function, Facial asymmetry, Otorhinolaryngology, Paranasal sinus, Computed tomography, Nasal alar muscles, Zygomatic nerve, Nasal Obstruction, Nasal alar lateralization, Diagnosis.
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BACKGROUND: This study aims to evaluate speech production outcomes and auditory performance in children with post-meningitis deafness who were treated with cochlear implants. Additionally, the study assesses the impact of electrode insertion depth on surgical outcomes.". METHODS: We conducted a study on 66 pediatric patients with bilateral postmeningitis hearing loss who were being prepared for cochlear implantation at four tertiary referral academic institutions. The speech intelligibility rating (SIR) and categories of auditory performance (CAP) were evaluated after the first and second years following implantation. The patients were divided into two groups based on electrode insertion depth: one group had full electrode insertion (more than two-thirds), while the other had partial electrode insertion (less than two-thirds). We compared the SIR and CAP scores between the two groups to assess the impact of electrode insertion depth on outcomes. RESULTS: Before implantation, the median CAP score was one, but it improved significantly to six within two years after the procedure (P-value < 0.001). Similarly, the median SIR score before implantation was one, but it improved significantly to three within two years after surgery (P-value < 0.001). However, there was no significant difference between the partial and full electrode insertion groups in terms of CAP and SIR scores during the follow-up evaluations conducted after the first and second years. CONCLUSION: The study found that cochlear implantation significantly improved speech production skills and auditory performance in children with postmeningitis deafness. Importantly, the amount of electrode insertion at the time of implantation did not have a significant impact on the outcomes.
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BACKGROUND: Chronic Rhinosinusitis (CRS) is a paranasal sinus inflammatory disease and is divided into two subgroups defined as CRS with nasal polyps (CRSwNP) and CRS without nasal polyps (CRSsNP). CRSwNP displays a T helper (Th)2 biased phenotype, and based on sensitivity or tolerance to aspirin or non-steroidal anti-inflammatory drugs (NSAID), is further subdivided into Aspirin-exacerbated respiratory disease (AERD) and non-AERD groups. Considering the challenge of diagnosis and treatment in patients with CRSwNP, particularly the AERD subtype, and the significance of endotyping in these patients, we examined the immune profile and endotyping based on gene expression analysis in the AERD and the non-AERD groups of patients with CRSwNP. MATERIAL AND METHOD: In this study, 21 patients were enrolled and were categorized into AERD (N = 10) and non-AERD (N = 11) groups based on their sensitivity to aspirin. After the special washing period, nasal polyps were biopsied in both groups, and the infiltration of eosinophils, neutrophils, plasma cells, and lymphocytes was compared between the AERD and the non-AERD groups. Also, gene expression levels of transcription factors including Tbet, GATA3, RoRγt, and FoxP3 and inflammatory cytokines including interleukin (IL)1ß, IL1RAP (IL1 receptor accessory protein), IL2, IL4, IL5, IL10, IL13, IL17, TNFα, and IFNγ were investigated by quantitative Real-time PCR (qRT-PCR). Statistical analyses were performed using analytical tests including Kolmogorov-Smirnov, Mann-Whitney, and T-test. A P value less than 0.05 was considered statistically significant. RESULTS: The mean ± SD age of the studied groups was 37 ± 8.7 years old (21-50) for the AERD, and 40.4 ± 7.7 years old (31-52) for the non-AERD. LMS/EPOS/SNOT scores and pulmonary function tests showed no difference between the two groups. Serum immunoglobulin E (IgE) levels were found to be higher in patients with AERD (p = 0.04), however, the peripheral blood counts of eosinophils were comparable in the two groups. In the histopathologic analysis, the AERD group showed higher percentages of eosinophils (p = 0.04), neutrophils (p = 0.04), and plasma cells (p = 0.04) than the non-AERD group. Additionally, the gene expression levels of GATA3 (p = 0.001), IL4 (p = 0.04), IL5 (p = 0.007), and IL17 (p = 0.03) were significantly higher in the AERD than the non-AERD groups. CONCLUSION: Higher gene expression levels of GATA3, IL4, IL5, and IL17 were observed in the AERD group compared with the non-AERD group. These findings point to distinct patterns of inflammation in patients with AERD, with a predominance of Th2 inflammation.
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BACKGROUND: Secretory carcinoma (SC) has been described as a distinct salivary gland tumor in the fourth edition of the World Health Organization (WHO) classification of head and neck tumors. SC is generally considered as a slow-growing low-grade malignant tumor, while several cases have been reported with high-grade features, and even metastases in the literature up until now. In this article, a soft tissue SC case is discussed with high-grade microscopic features and neural invasion. A review of the salivary gland SC cases with aggressive behavior is also debated. CASE PRESENTATION: A 65-year-old Caucasian man presented with a left neck mass for the past six months. The imaging studies demonstrated a very large cystic cervical mass (46 × 23 mm) with papillary projections in the anterolateral aspect of the left neck zone Vb. He underwent left radical neck dissection (level I-V) and was followed up for 12 months with the diagnosis of Secretory carcinoma. CONCLUSION: Although SC generally has a good outcome, multiple recurrences and unusual metastases may occur, which should be considered by either the pathologists or clinicians.
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Adenocarcinoma , Neoplasias de la Mama , Carcinoma , Neoplasias de las Glándulas Salivales , Masculino , Humanos , Anciano , Carcinoma/diagnóstico , Neoplasias de las Glándulas Salivales/diagnóstico por imagen , Neoplasias de las Glándulas Salivales/cirugía , Glándulas Salivales/patologíaRESUMEN
Background: Adenoid cystic carcinoma is a slow-growing malignancy that most often occurs in the salivary glands. Currently, no FDA-approved therapeutic target or diagnostic biomarker has been identified for this cancer. The aim of this study was to find new therapeutic and diagnostic targets using bioinformatics methods. Methods: We extracted the gene expression information from two GEO datasets (including GSE59701 and GSE88804). Different expression genes between adenoid cystic carcinoma (ACC) and normal samples were extracted using R software. The biochemical pathways involved in ACC were obtained by using the Enrichr database. PPI network was drawn by STRING, and important genes were extracted by Cytoscape. Real-time PCR and immunohistochemistry were used for biomarker verification. Results: After analyzing the PPI network, 20 hub genes were introduced to have potential as diagnostic and therapeutic targets. Among these genes, PLCG1 was presented as new biomarker in ACC. Furthermore, by studying the function of the hub genes in the enriched biochemical pathways, we found that insulin-like growth factor type 1 receptor and PPARG pathways most likely play a critical role in tumorigenesis and drug resistance in ACC and have a high potential for selection as therapeutic targets in future studies. Conclusion: In this study, we achieved the recognition of the pathways involving in ACC pathogenesis and also found potential targets for treatment and diagnosis of ACC. Further experimental studies are required to confirm the results of this study.
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Carcinoma Adenoide Quístico , Neoplasias de las Glándulas Salivales , Humanos , Carcinoma Adenoide Quístico/tratamiento farmacológico , Carcinoma Adenoide Quístico/genética , Carcinoma Adenoide Quístico/metabolismo , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/metabolismo , BiomarcadoresRESUMEN
Introduction: Intravascular papillary endothelial hyperplasia (IPEH) is a papillary hyperplasia of the endothelial vascular cells, also called Masson's tumor. Masson's etiology and risk factors remain unclear but trauma and vascular pathologic conditions may start the tumor process from its common regions like extremities. Common presentations include swelling and mild pain. Our Radiologic modality of choice is Contrast-enhanced MRI which can help us before operating parotidectomy, the gold standard of tumor treatment. As presented in this study, Parotid Masson's tumor, is a very rare form of Masson's,making it even more exceptional. Case Report: This paper reports a case of a 29-years-old woman with a mass in herright parotid gland from 17 years ago, which has slowly increased in size during these years. She underwent a total parotidectomy following unsuccessful Fibrovein injections, which caused her inflammation. Embolization was performed before the resection to decrease the risk of its hemorrhage. Postoperative follow-up confirmed the reliability of this treatment method as the patient declared no side effects. Apart from its tough diagnosis, since Masson's tumors, especially the ones that emerge in the parotid, are rare, we decided to introduce this case to deliver more information about the treatment and diagnosis of this rare disease to other colleagues. Conclusions: The prognosis of parotid Masson's is admirable following a total resection. The patient had no postoperative complaints with no need for multiple visits after resection.
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Introduction: Recent advances have led to the development of sialendoscopy, an accurate, minimally invasive procedure with high diagnostic and therapeutic capabilities in treating sialolithiasis. This study aimed to evaluate the results and complications of sialendoscopy in patients suffering from sialoadenitis. Materials and Methods: This study was a prospective interventional case series study on patients with sialoadenitis due to sludge or stone formation preoperatively confirmed by sonography or computed tomography (CT) scanning. Diagnostic sialendoscopy was performed, and the presence of stenosis, sludge, or stones inside the gland or duct was examined, and surgery was done. During follow-up time (18.8 ± 7.4 months), recurrence of symptoms, the need for reoperation, and postoperative complications were also assessed. Results: The sialendoscopy was performed in 51 patients, including 55 glands. Forty-five Patients (88.2%) reported pain relief, and 46 patients (90.2%) reported that the treatment using sialendoscopy was better than conservative methods. The duct restenosis also occurred in one patient requiring open surgery. In assessing the main factors predicting the need for reoperation, the site of involvement (parotid versus submandibular glands) and the size of the stone were identified as the main determinants. The best cut-off value for stone size in predicting reoperation requirement was 7.0mm, with a sensitivity of 100% and a specificity of 85.7%. Conclusion: Intraoperative sialendoscopy is a successful diagnostic and therapeutic tool with minimal postoperative complications in salivary gland duct involvement patients.
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OBJECTIVES: Evidence suggests that Cochlear Implantation (CI) is a beneficial approach for auditory and speech skills improvement in children with severe to profound hearing loss. However, it remains controversial if implantation in children <12 months is safe and effective compared to older children. The present study aimed to determine whether children's ages affect surgical complications and auditory and speech development. METHODS: The current multicenter study enrolled 86 children who underwent CI surgery at <12 months of age (group A) and 362 children who underwent implantation between 12 and 24 months of age (group B). The Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores were determined pre-impanation, and "one-year" and "two-year" post-implantation. RESULTS: All children had full insertions of the electrode array. Four complications (overall rate: 4.65%; three minor) occurred in group A and 12 complications (overall rate: 4.41%; nine minor) occurred in group B. We found no statistically significant difference in the complication rates between the groups (p > 0.05). The mean SIR and CAP scores improved over time following CI activation in both groups. However, we did not find significant differences in CAP and SIR scores between the groups across different time points. CONCLUSION: Cochlear implantation in children younger than 12 months is a safe and efficient procedure, providing substantial auditory and speech benefits. Furthermore, rates and nature of minor and major complications in infants are similar to those of children undergoing the CI at an older age.
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Implantación Coclear , Implantes Cocleares , Sordera , Percepción del Habla , Lactante , Niño , Humanos , Adolescente , Implantación Coclear/efectos adversos , Implantación Coclear/métodos , Implantes Cocleares/efectos adversos , Inteligibilidad del Habla/fisiología , Percepción del Habla/fisiología , Resultado del Tratamiento , Sordera/cirugíaRESUMEN
OBJECTIVE: This multicenter study aimed to evaluate the auditory and speech outcomes of cochlear implantation (CI) in deaf-blind patients compared with deaf-only patients. STUDY DESIGN: Retrospective cohort study. SETTING: Multiple cochlear implant centers. PATIENTS: The current study was conducted on 17 prelingual deaf-blind children and 12 postlingual deaf-blind adults who underwent CI surgery. As a control group, 17 prelingual deaf children and 12 postlingual deaf adults were selected. INTERVENTION: Cochlear implantation. MAIN OUTCOME MEASURES: Auditory and linguistic performances in children were assessed using the categories of auditory performance (CAP) and Speech Intelligibility Rating (SIR) scales, respectively. The word recognition score (WRS) was also used to measure speech perception ability in adults. The mean CAP, SIR, and WRS cores were compared between the deaf-only and deaf-blind groups before CI surgery and at "12 months" and "24 months" after device activation. Cohen's d was used for effect size estimation. RESULTS: We found no significant differences in the mean CAP and SIR scores between the deaf-blind and deaf-only children before the CI surgery. For both groups, SIR and CAP scores improved with increasing time after the device activation. The mean CAP scores in the deaf-only children were either equivalent or slightly higher than those of the deaf-blind children at "12 months post-CI" (3.94 ± 0.74 vs 3.24 ± 1.25; mean difference score, 0.706) and "24 months post-CI" (6.01 ± 0.79 vs 5.47 ± 1.06; mean difference score, 0.529) time intervals, but these differences were not statistically significant. The SIR scores in deaf-only implanted children were, on average, 0.870 scores greater than the deaf-blind children at "12 months post-CI" (2.94 ± 0.55 vs 2.07 ± 1.4; p = 0.01, d = 0.97) and, on average, 1.067 scores greater than deaf-blind children at "24 months post-CI" (4.35 ± 0.49 vs 3.29 ± 1.20; p = 0.002; d = 1.15) time intervals. We also found an improvement in WRS scores from the "preimplantation" to the "12-month post-CI" and "24-month post-CI" time intervals in both groups. Pairwise comparisons indicated that the mean WRS in the deaf-only adults was, on average, 10.61% better than deaf-blind implanted adults at "12 months post-CI" (62.33 ± 9.09% vs 51.71 ± 10.73%, p = 0.034, d = 1.06) and, on average, 15.81% better than deaf-blind adults at "24-months post-CI" (72.67 ± 8.66% vs 56.8 ± 9.78%, p = 0.002, d = 1.61) follow-ups. CONCLUSION: Cochlear implantation is a beneficial method for the rehabilitation of deaf-blind patients. Both deaf-blind and deaf-only implanted children revealed similar auditory performances. However, speech perception ability in deaf-blind patients was slightly lower than the deaf-only patients in both children and adults.
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Implantación Coclear , Implantes Cocleares , Sordera , Percepción del Habla , Adulto , Niño , Implantación Coclear/métodos , Sordera/rehabilitación , Sordera/cirugía , Humanos , Lactante , Estudios Retrospectivos , Inteligibilidad del Habla/fisiología , Percepción del Habla/fisiología , Resultado del TratamientoRESUMEN
ABSTRACT: The purpose of the study is to evaluate the efficacy of double skin paddle anterolateral thigh flap (ALT) to reconstruction of through and through oral cavity defect due to cancer surgery.A prospective review was performed of patients referred to Firoozgar and Erfan hospitals with oral cavity defects with two or more oral cavity subunits and skin simultaneously involvement and immediate reconstruction using double-skin paddle ALT flap at the same time of tumor ablation from January 2019 to November 2020.A total number of 6 patients was evaluated. The mean area of skin paddle was 110.4âcm2 and 92.8âcm2 in distal and proximal paddle respectively. Except one patient was complicated and expired in hospital admission, the remaining 5 patients got fully oral intake and completely survived flaps with primarily closed donor site. Tumor recurrence was not found in the mean follow-up time of 12âmonths.The double skin paddle anterolateral thigh flap serves as an efficient reconstruction technique in complex and perforating oral cavity defects with the same functional outcome and the same flap related complications as conventional ALT flap.
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Colgajos Tisulares Libres , Neoplasias de Cabeza y Cuello , Procedimientos de Cirugía Plástica , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Boca , Estudios Prospectivos , Muslo/cirugía , Resultado del TratamientoRESUMEN
INTRODUCTION: The introduction of laryngeal transoral procedures has created a shift in the treatment of laryngeal cancers towards the primary surgical management of patients. In this study, we aimed to evaluate the safety, efficacy, and feasibility of the transoral laser-assisted total laryngectomy (TLM-TL) in advanced laryngeal cancer. Case presentation. In this case report, we describe a case of a 50-year-old male patient presented to the otorhinolaryngology clinic with a history of hoarseness and odynophagia since 6 months. Based on the pathological and imaging findings, the diagnosis of stage IVa laryngeal squamous cell carcinoma with the involvement of the base, tongue, and left palatine tonsil was made for the patient, and transoral total laryngectomy with partial glossectomy via the TLM technique was planned. RESULT: The tumor was successfully resected by TLM-TL with clear surgical margins. No complication was observed after the surgery. Good functional recovery was obtained regarding swallowing and speech. The patient's oncologic and functional outcomes were evaluated for 2 years. Everything was satisfactory with good long-term cosmetic and laryngopharyngeal functional outcome and no sign of tumor recurrence. CONCLUSIONS: TLM-TL is a minimally invasive and cost-benefit endoscopic surgical procedure feasible in advanced laryngeal cancer with good long-term oncological and functional outcome. It could limit postoperative complications, mainly the incidence of pharyngocutaneous fistulae. It is also associated with better satisfaction after TL due to cosmetic benefits.
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Introduction Pitch mismatch is one of the most important problems of users of bimodal cochlear implants, which affects their life satisfaction. Children with acquired hearing loss cannot explain their pitch mismatch problems, as they have had no auditory experience. This study tries to diagnose pitch mismatch in these children through the sound-induced flash illusion test. Materials and methods In this study, 20 children with a bimodal cochlear implant and 20 children with normal hearing, within the age range of 8 to 13 years old, were examined using the sound-induced flash illusion test. In this test, participants received one flash with one to four beep sounds, and they were asked to indicate the number of perceived flashes. Results The results revealed that in the bimodal implantation group, when the flash was provided with one beep, at certain frequencies, children expressed that they saw two flashes. However, the results were not the same in children with normal hearing. Conclusion The results indicated that at frequencies where the auditory information of the hearing aids and those of the cochlear implants overlap, pitch mismatch develops, which can significantly affect the auditory performance of bimodal users.
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INTRODUCTION: Operations on the tympanic membrane of the middle ear, myringoplasty, and tympanoplasty are now widely accepted, and attempts are underway all over the world to standardize the surgical techniques. This study aimed to compare postoperative outcomes of endoscopic and microscopic cartilage myringoplasty in patients suffering from chronic otitis media (COM). MATERIALS AND METHODS: This clinical trial study compared 130 patients with COM who underwent transcanal endoscopic myringoplasty by repairing perforation using auricular concha cartilage under general anesthesia (n=75) and conventional repairing method by postauricular incision and tympanomeatal flap elevation under microscopic surgery (n=55). RESULTS: According to the results, there was no significant difference between the two groups in terms of hearing gain 1, 6, and 12 months after surgery (P=0.063); however, higher hearing gain scores were observed in the endoscopic group. Moreover, lower recovery time and post-operative pain were reported in patients who underwent the endoscopic approach, compared to those who treated with the conventional repairing method (P<0.001). CONCLUSION: Endoscopic myringoplasty technique is a safe and effective way to improve hearing loss as much as the conventional method. However, due to the lower recovery time and post-operative pain, it seems to be the method of choice in myringoplasty surgery.
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OBJECTIVES: The aim of the present study was to describe and evaluate the results of a new technique in endolymphatic sac decompression surgery. METHODS: Forty-three patients with intractable unilateral Meniere's disease were selected. Endolymphatic sac was identified after simple mastoidectomy, and its lateral layer was incised, using a sickle knife. Outer layer of the sac was turned around and placed under the anterior bony border. RESULTS: Mean duration of the follow-up was 24 months. Mean tinnitus handicap index, pure tone average (PTA) on thresholds at 500, 1000, 2000, and 4000 Hz, mean speech reception threshold, mean speech discrimination score, hearing stage, and mean vertigo score before and after surgery were evaluated. CONCLUSION: The new marsupialization technique with anterior bony border is a safe and effective way to improve tinnitus, vertigo, and ear fullness among these patients. According to PTA and hearing stage, this surgery can control progressive hearing loss. LEVEL OF EVIDENCE: 3.
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BACKGROUND: Ménière's disease (MD) is a common inner ear disorder which is characterized by recurrent attacks of vertigo, fluctuating sensorineural hearing loss (SNHL), tinnitus, and a sense of fullness in the affected ear. MD is a complex disorder; although six genes have been linked to familial autosomal dominant form of the disease, in many cases, the exact genetic etiology remains elusive. METHODS: To elucidate the genetic causes of MD in an Iranian family, we performed exome sequencing on all members of the family: consanguineous parents and four children (two affected and two unaffected). Variant filtering was completed using a customized workflow keeping variants based on segregation with MD in autosomal recessive (AR) inheritance pattern, minor allele frequency (MAF), and in-silico prediction of pathogenicity. RESULTS: Analysis revealed that in this family, 970 variants co-segregated with MD in AR pattern, out of which eight variants (one intergenic, four intronic, and three exonic) were extremely rare. The exonic variants included a synonymous substitution in USP3 gene, an in-frame deletion in ZBED2 gene, and a rare, highly conserved deleterious missense alteration in LSAMP gene. CONCLUSION: The phenotype observed in the proband described here, i.e. vertigo, poor sense of smell, tinnitus, and borderline hearing ability, may originate from aberrant changes in the cerebellum and limbic system due to a deleterious mutation in the LSAMP gene; hence, LSAMP mutation is a possible candidate for the etiology of MD in this family.
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Moléculas de Adhesión Celular Neuronal/genética , Enfermedad de Meniere/genética , Enfermedad de Meniere/fisiopatología , Adulto , Salud de la Familia , Femenino , Proteínas Ligadas a GPI/genética , Pérdida Auditiva Sensorineural/etiología , Humanos , Irán , Enfermedad de Meniere/complicaciones , Mutación , Trastornos del Olfato/etiología , Fenotipo , Acúfeno/etiología , Vértigo/etiología , Secuenciación del ExomaRESUMEN
OBJECTIVES: This multicenter study evaluated the auditory performance and speech production outcomes of cochlear implantation in children with inner ear anomaly and compared the outcomes of patients with different kinds of malformation. METHODS: Cochlear implantation was performed in 107 children with inner ear malformation at four tertiary academic centers. The categories of auditory performance (CAP) and speech intelligibility rating (SIR) scores were evaluated preoperatively and one year and two years postoperatively. RESULTS: Types of inner ear malformation and their frequencies were: incomplete partition type-I, 19 (17.8%) patients; incomplete partition type-II, 31 (29%), common cavity, 17 (15.9%), cochlear hypoplasia, 17 (15.9%), and isolated enlarged vestibular aqueduct (isolated EVA), 23 (21.5%) patients. EVA was the coexisting anomaly in 27(25.2%) subjects. The median CAP and SIR scores improved significantly during the first two years after cochlear implantation in all groups (p-values <0.001 and < 0.001, respectively). No significant difference was seen in CAP and SIR scores of children with different inner ear malformations (p-value = 0.147 and 0.570, respectively) or in patients with isolated EVA compared to coexisting EVA (p-value = 0.538 and 0.075, respectively). CONCLUSION: The median CAP and SIR scores two years after surgery were 5 (Understanding of common phrases without lip-reading) IQR: 4-6, and 3 (Connected speech is intelligible to a listener who concentrates and lip-reads within a known context) IQR: 3-4, respectively. Auditory performance and speech production were significantly improved in all inner ear malformation patient groups, and no significant difference was observed between the scores of patients with different types of anomaly.
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Implantación Coclear , Sordera/rehabilitación , Oído Interno/anomalías , Inteligibilidad del Habla , Percepción del Habla , Percepción Auditiva , Niño , Preescolar , Cóclea/anomalías , Implantes Cocleares , Anomalías Congénitas , Sordera/complicaciones , Femenino , Pérdida Auditiva Sensorineural , Humanos , Lactante , Masculino , Estudios Retrospectivos , Acueducto Vestibular/anomalíasRESUMEN
Nasopharyngeal masses in young males, first of all presumes Juvenile Nasopharyngeal Angiofibroma (JNA) in the mind, but other benign or malignant tumors should be considered for successful and adequate management of patients and also for minimizing morbidity from unnecessary interventions. We herein present a patient with nasopharyngeal carcinoma (NPC) mimicking JNA. The patient was presumed as JNA and underwent excessive surgical intervention and the final histopathology report was NPC. The aim of our case report is to highlight the importance of complete clinical examination and preoperative imaging in differentiating and ideal management of nasopharyngeal masses.