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1.
Immunol Invest ; 51(3): 705-714, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33416011

RESUMEN

BACKGROUND: A few studies investigated the relationship between allergy and Meniere disease considering complete allergen panel. We aimed to evaluate the serum immunoreactivity in patients with Meniere's disease (MD) compared with healthy people according to common indigenous Iranian inhalation and food allergens. METHODS: Thirty-nine patients with MD referred to Rasoul Akram Hospital (Tehran, Iran) were evaluated and compared with a 41 membered control group. A panel of common inhalation and food allergens (using an immunoblotting method), as well as total immunoglobulin E (IgE) level (using the sandwich enzyme-linked immunosorbent assay method), were checked on the patients' serum. RESULTS: The mean total IgE level was 193.85 ± 175.43 IU/ml in the patients with MD and 117.61 ± 138.05 IU/ml in the control group, which was significantly higher than the other subjects in the control group (P = .016). There was a significant difference between the two groups regarding inhalation allergens such as; sweet vernal grass, cultivated rye, cultivated oat, Russian thistle, goosefoot, and rough pigweed (P = .01-0.038). Patients with MD reported more reactive to food allergens such as; rye flour, hazelnut, pepper, citrus mix 2, potato, strawberry, and celery allergens. There was a significant relationship between Meniere and serum immunoreactivity to inhalation and food allergens (both P = .001).Conclusion: Serum total IgE level in patients with MD (in both inhalation and food allergens groups) was higher than the control group, and there was a relationship between MD and immunoreactivity to common indigenous inhalation and food allergens of Iran.


Asunto(s)
Hipersensibilidad a los Alimentos , Enfermedad de Meniere , Alérgenos , Humanos , Inmunoglobulina E , Irán/epidemiología
2.
Int Tinnitus J ; 23(2): 74-78, 2019 09 04.
Artículo en Inglés | MEDLINE | ID: mdl-32009338

RESUMEN

BACKGROUND AND OBJECTIVE: Patients who receive cochlear implants (CIs) constitutes a significant population in Iran. This population needs regular monitor on long-term outcomes, educational placement and quality of life. Currently, there is no national or regional registry on the long term outcomes of CI users in Iran. The present study aims to introduce the design and implementation of a national patient-outcomes registry on CI recipients for Iran. This Iranian CI registry (ICIR) provides an integrated framework for data collection and sharing, scientific communication and collaboration inCI research. METHODS: The national ICIR is a prospective patient-outcomes registry for patients who are implanted in one of Iranian centers. The registry is based on an integrated database that utilizes a secure web-based platform to collect response data from clinicians and patient's proxy via electronic case report forms (e-CRFs) at predefined intervals. The CI candidates are evaluated with a set of standardized and non-standardized questionnaires prior to initial device activation(as baseline variables) and at three-monthly interval follow-up intervals up to 24 months and annually thereafter. RESULTS: The software application of the ICIR registry is designed in a user-friendly graphical interface with different entry fields. The collected data are categorized into four subsets including personal information, clinical data, surgery data and commission results. The main parameters include audiometric performance of patient, device use, patient comorbidities, device use, quality of life and health-related utilities, across different types of CI devices from different manufacturers. CONCLUSION: The ICIR database could be used by the increasingly growing network of CI centers in Iran. Clinicians, academic and industrial researchers as well as healthcare policy makers could use this database to develop more effective CI devices and better management of the recipients as well as to develop national guidelines.


Asunto(s)
Implantes Cocleares , Sistema de Registros , Humanos , Irán , Estudios Longitudinales , Estudios Prospectivos
3.
Int Tinnitus J ; 22(1): 40-45, 2018 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-29993216

RESUMEN

OBJECTIVE: Cisplatin is a potent chemotherapeutic agent that is used against a variety of tumors. The most common side effect of cisplatin is ototoxicity. This dose-related hearing impairment is high frequency, bilateral, and permanent. Unfortunately, there is no prophylactic protocol, and, in current clinical practice, the treatment of cancer with cisplatin is interrupted when ototoxicity develops or the resulting hearing impairment is tolerated as an acceptable side effect of cancer treatment. The aim of this study is to compare transtympanic injections of N-acetylcysteine and dexamethasone (both of which have shown substantial otoprotective activity) for the prevention of cisplatin-induced ototoxicity. METHODS: A double blind randomised clinical trial study of 60 cisplatin-treated patients was performed in Shahid Sadoughi Hospital in 2016-2017. Transtympanic injection of N-acetylcysteine (10%) and dexamethasone was performed. Hearing acuity was evaluated by an audiologist blinded to the treated ears before each cycle with pure tone audiometry (PTA) and six months later. RESULTS: Altogether, 114 transtympanic infusions were performed (57 in each group). The data were analyzed by the Fisher test and chi-squared. In the ears with N-acetylcysteine, no significant changes in auditory thresholds were recorded. In the ears with dexamethasone, cisplatin induced a significant decrease of auditory thresholds at the 8000 Hz frequency band (P = 0.001). CONCLUSION: Transtympanic injections of N-acetylcysteineas a safe and inexpensive antioxidant agent seem to be an effective otoprotective strategy for the prevention of cisplatin-induced ototoxicity and for increasing the quality of life, especially in children.


Asunto(s)
Acetilcisteína/administración & dosificación , Antineoplásicos/efectos adversos , Umbral Auditivo/efectos de los fármacos , Cisplatino/efectos adversos , Dexametasona/administración & dosificación , Audición/efectos de los fármacos , Sustancias Protectoras/administración & dosificación , Método Doble Ciego , Humanos , Inyección Intratimpánica , Calidad de Vida
4.
J Med Genet ; 52(12): 823-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26445815

RESUMEN

BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. DESIGN: Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. RESULTS: We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and three novel CNV. Several variants represent founder mutations. CONCLUSION: This study attests to the power of TGE and massively parallel sequencing as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery.


Asunto(s)
Pérdida Auditiva/genética , Conexina 26 , Conexinas , Consanguinidad , Efecto Fundador , Frecuencia de los Genes , Genes Recesivos , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pérdida Auditiva/patología , Humanos , Irán
5.
Eur Arch Otorhinolaryngol ; 273(3): 631-4, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25822290

RESUMEN

Many difficulties might be encountered during conventional stapes surgery. However, the good exposure provided by the endoscope can facilitate this procedure. The present study addresses the effectiveness of endoscopic stapes surgery with regard to the operation time and patients' convenience and satisfaction. 19 patients underwent endoscopic stapes surgery without packing. 15 patients who experienced the microscopic stapes surgery served as the comparison group. Audiometric results and the patients' satisfaction as measured by visual analog scale in both group were compared. Audiometric results were similar in both groups. Nevertheless, the endoscopic method was accompanied by shorter operation time and more comfort for the patients. Totally endoscopic stapes surgery can be done in much shorter time without major difficulties and without need to pack ear canal after surgery. Far less dissection and incision as well as patients' more satisfaction make this technique as a good alternative to the microscopic approach to stapes surgery.


Asunto(s)
Endoscopía , Prótesis Osicular , Otosclerosis/cirugía , Complicaciones Posoperatorias/prevención & control , Cirugía del Estribo , Adolescente , Adulto , Audiometría/métodos , Endoscopía/efectos adversos , Endoscopía/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tempo Operativo , Satisfacción del Paciente , Estudios Retrospectivos , Estribo/patología , Cirugía del Estribo/efectos adversos , Cirugía del Estribo/métodos , Resultado del Tratamiento
6.
J Res Med Sci ; 19(8): 769-75, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25422664

RESUMEN

BACKGROUND: Dizziness as a common symptom affecting many aspects of the patient's life and it is hard to be fully evaluated. The dizziness handicap inventory (DHI) is a reliable self-perceived questionnaire in the evaluation of dizziness impacts. The purposes of this study are translation of the DHI to Persian language and measuring its psychometric properties, including face, content, discriminate and construct validity, internal consistency and reliability. MATERIALS AND METHODS: The English version of the DHI is translated to Persian language based on international quality of life assessment protocol. 97 participants, including 57 patients with mean age of 44.5-year-old and 40 healthy people (mean age of 34.1) participated in this study during the period of November 2012 to June 2013 in audiology clinics of Tehran University of medical sciences. RESULTS: The Persian version of DHI showed good face and content validity. The internal consistency of DHI-P was good, the Cronbach's alpha was 0.79, 0.82, 0.83, and 0.90 for total and emotional, physical and functional subscales; respectively, in reliability, There was a high correlation between test re-test scores (r = 0.90, P = 0.000). Intraclass correlation coefficient (ICC) was 0.96 for total score and 0.92, 0.92, and 0.96 for emotional, physical and functional subscales; respectively. CONCLUSION: Considering good psychometric properties, we suggest that DHI-P can use for evaluating the dizziness effects on quality of life in Persian population.

7.
Clin Case Rep ; 12(6): e9032, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38910833

RESUMEN

Key Clinical Message: Melkersson-Rosenthal syndrome can cause recurring bilateral facial paralysis. When steroids fail, surgical decompression of facial nerve is recommended, with endoscopic trans-canal decompression as a safe, minimally invasive, and effective option. Abstract: Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous disorder, clinically diagnosed by a triad of orofacial swelling, recurrent facial palsy, and fissured tongue. Due to the lack of a comprehensive understanding of MRS, there is no accepted standard of care. In this study we report a 30-year-old female patient, who was referred to the otolaryngology clinic of Rasool Akram Hospital, with classical triad of MRS that was managed by endoscopic trans-canal facial nerve decompression. Bilateral endoscopic trans-canal facial nerve decompression was done when we did not find any improvement with systemic steroids. Endoscopic trans-canal facial nerve decompression could be a safe, reliable minimal invasive treatment of facial paralysis in MRS patients. It needs no external incision or temporal bone drilling which makes this method more convenient for patients with shorter recovery time.

8.
Indian J Otolaryngol Head Neck Surg ; 76(1): 403-407, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38440467

RESUMEN

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.

9.
Indian J Otolaryngol Head Neck Surg ; 76(1): 508-513, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38440496

RESUMEN

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.

10.
Iran J Otorhinolaryngol ; 35(127): 91-96, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37223397

RESUMEN

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.

11.
BMC Med Genomics ; 16(1): 235, 2023 10 06.
Artículo en Inglés | MEDLINE | ID: mdl-37803361

RESUMEN

BACKGROUND: Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression. This paper presents a novel mutation in ABHD12 in two affected siblings with PHARC syndrome phenotypes. In addition, we summarize genotype-phenotype information of the previously reported patients with ABHD12 mutation. METHODS: Following a thorough medical evaluation, whole-exome sequencing was done on the proband to look for potential genetic causes. This was followed by confirmation of identified variant in the proband and segregation analysis in the family by Sanger sequencing. The variants were interpreted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: A novel pathogenic homozygous frameshift variant, NM_001042472.3:c.601dup, p.(Val201GlyfsTer4), was identified in exon 6 of ABHD12 (ACMG criteria: PVS1 and PM2, PM1, PM4, PP3, and PP4). Through Sanger sequencing, we showed that this variant is co-segregated with the disease in the family. Further medical evaluations confirmed the compatibility of the patients' phenotype with PHARC syndrome. CONCLUSIONS: Our findings expand the spectrum of mutations in the ABHD12 and emphasize the significance of multidisciplinary diagnostic collaboration among clinicians and geneticists to solve the differential diagnosis of related disorders. Moreover, a summary based on mutations found so far in the ABHD12 gene did not suggest a clear genotype-phenotype correlation for PHARC syndrome.


Asunto(s)
Enfermedades Neurodegenerativas , Retinitis Pigmentosa , Humanos , Mutación del Sistema de Lectura , Retinitis Pigmentosa/genética , Mutación , Fenotipo , Linaje , Monoacilglicerol Lipasas/genética
12.
Int J Pediatr Otorhinolaryngol ; 167: 111495, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36868146

RESUMEN

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.


Asunto(s)
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/cirugía
13.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 3): 4144-4149, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36742825

RESUMEN

The goal of this study was to investigate the probable difference in auditory perception and speech intelligibility performance amongst cochlear implanted children who experienced hyperbilirubinemia or auditory neuropathy in comparison to the cochlear implanted children with unknown etiology for hearing loss. This case-control study was carried out on 106 cochlear implanted children with mean age of 32.36 ± 11.98 months who were purposively selected and allocated into four groups. Out of the total, 30 had no specific etiology for hearing loss, while the others had experienced auditory neuropathy or hyperbilirubinemia with/without blood exchange. The auditory perception and speech intelligibility performance of all the participants who had received auditory verbal therapy were assessed after 6 and 12 months of rehabilitation. Then, the data was analyzed, using the Statistical Package for Social Sciences-version 21(SPSS-21). Results indicated poor auditory perception and speech intelligibility performance of the cochlear implanted children with hyperbilirubinemia and blood exchange (P ≤ 0.05), while the participants in the control group with no specific etiology for hearing loss, the children with hyperbilirubinemia with no blood exchange, and those who suffered from auditory neuropathy performed better, respectively. Also, a significant correlation between auditory neuropathy and hyperbilirubinemia was observed. Despite lower improvement of auditory perception and speech intelligibility of the hearing impaired children who were experiencing moderate to severe degrees of hyperbilirubinemia or auditory neuropathy, cochlear implantation is highly recommended not only for children with unknown etiology for severe hearing loss but also for this group of hearing impaired children.

14.
Otol Neurotol ; 43(8): 908-914, 2022 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-35970154

RESUMEN

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.


Asunto(s)
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 Tratamiento
15.
Am J Med Genet A ; 155A(5): 1202-11, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21484990

RESUMEN

Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same village in northern Iran consistent with a founder effect. This finding implicates the D46N missense mutation in Cx26 as a common cause of deafness in this part of Iran mandating mutation screening of GJB2 for D46N in all persons with hearing loss who originate from this geographic region.


Asunto(s)
Conexinas/genética , Genes Dominantes , Pérdida Auditiva/genética , Mutación , Conexina 26 , Humanos , Irán
16.
Eur Arch Otorhinolaryngol ; 268(10): 1421-5, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21328002

RESUMEN

Patient's low compliance of conventional hearing aids has lead to innovation of totally implantable hearing devices such as Esteem, Envoy system. This study was designed to evaluate safety of device implantation, patient's hearing gain, importance of anatomic landmarks, and to describe suitable criteria for patient selection. Via a non-randomized controlled clinical trial, ten patients with moderate-to-severe sensorineural hearing loss were implanted from 2007 to 2009. Mean follow-up period was 29.4 months. Correlation of pre-operative temporal bone CT scan anatomy with postoperative outcome was evaluated. Except one, all other implanted devices are active and patients' overall average hearing gain are similar to conventional hearing aids (10-22 dB), but patients reported relatively better subjective sound quality compared with their pre-operative conventional hearing aids. One implanted device was explanted in a patient due to facial weakness and low-hearing gain. Revision surgery was done successfully in another patient secondary to excessive bone growth. Totally implantable hearing device surgery seems to be relatively safe and correct patient selection could lead to good outcomes. Lateral location of facial nerve, sclerotic mastoid air cells and narrow facial recess space seems to be related to postoperative complications.


Asunto(s)
Umbral Auditivo/fisiología , Audífonos , Pérdida Auditiva Sensorineural/cirugía , Prótesis Osicular , Selección de Paciente , Implantación de Prótesis/métodos , Audiometría , Estudios de Seguimiento , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Estudios Prospectivos , Diseño de Prótesis , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
17.
J Biomed Phys Eng ; 11(4): 435-446, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34458191

RESUMEN

BACKGROUND: Selective targeting of malignant cells is the ultimate goal of anticancer studies around the world. There are some modalities for cancer therapy devastating tumor size and growth rate, meanwhile attacking normal cells. Utilizing appropriate ligands, like folate, allow the delivery of therapeutic molecules to cancer cells selectively. There are a variety of photosensitizers, like gold nanorods (GNRs), capable of absorbing the energy of light and converting it to heat, evidently build a photothermal procedure for cancer therapy. OBJECTIVE: To develop a one-step approach for calculating the temperature distribution by solving the heat transfer equation with multiple heat sources originating from NIR laser-exposed GNRs. MATERIAL AND METHODS: In this experimental study, we simulated NIR laser heating process in a single cancer cell, with and without incubation with folate conjugated PEG-GNRs. This simulation was based on a real TEM image from an experiment with the same setup. An in vitro experiment based on aforesaid scenario was performed to validate the simulated model in practice. RESULTS: According to the simplifications due to computational resource limits, the resulting outcome of simulation showed significant compatibility to the supporting experiment. Both simulation and experimental studies showed a similar trend for heating and cooling of the cells incubated with GNRs and irradiated by NIR laser (5 min, 1.8 W/cm2). It was observed that temperature of the cells in microplate reached 53.6 °C when irradiated by laser. CONCLUSION: This new method can be of great application in developing a planning technique for treating tumors utilizing GNP-mediated thermal therapy.

18.
Am J Otolaryngol ; 31(5): 387-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20015781

RESUMEN

OBJECTIVE: The aim of the study was to study a new treatment to repair large nasal septal perforation with medical titanium membrane. METHOD: Ten patients with septal perforation underwent repair with open rhinoplasty approach using titanium membrane. RESULTS: The perforation of nasal septum in 10 patients was closed satisfactorily. During our followup period (mean, 1 year), the titanium membrane was mucosalized, and this technique led to persistent closing of perforation. CONCLUSION: Repair of septal perforation with titanium membrane yields excellent results.


Asunto(s)
Materiales Biocompatibles , Membranas Artificiales , Tabique Nasal/lesiones , Tabique Nasal/cirugía , Titanio , Adulto , Regeneración Tisular Dirigida , Humanos , Persona de Mediana Edad , Rinoplastia
19.
Iran J Otorhinolaryngol ; 32(108): 29-34, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32083028

RESUMEN

INTRODUCTION: Based on the previous data, among the general population aged between 30 and 60 years, snoring is observed in 44% and 28% of males and females, respectively. Therefore, it is important to treat snoring to reduce the disruption of the bed partner's sleep and the patients' own problems. This study aimed to present a minimally invasive procedure which is easy to perform with less tissue damage. MATERIALS AND METHODS: This study included 13 patients suffering from primary snoring with soft palate length of 2.5cm or more. All of the patients were examined and their partners were asked to fill-out the relevant questionnaires at baselines, 90 days, 6 months and 1 year after the surgery in order to assess snoring. A crescent strip of oral mucosa along with the underlying muscle were removed under general anesthesia followed by the insertion of a piece of oval-shaped titanium mesh. Moreover, two subjective methods were employed to assess the snoring of all patients. RESULTS: 11 patients were male, and the mean age and the mean body mass index of the patients were 48.69 years and 28.34 kg/m2, respectively. The scores obtained from the Visual Analog Scale for snoring loudness before surgery reduced from 7.63 to 3.54, which was statistically significant (P<0.05). None of the patients experienced major complications after surgery; however, there was a partial extrusion of the implant in one case which was managed conservatively with spontaneous healing. CONCLUSIONS: Titanium snoreplasty was successful in the reduction of snoring in this study. This method is a single-stage treatment for simple snoring with the multiple effects of palatal shortening, space increasing, and palatal stiffening.

20.
Laryngoscope Investig Otolaryngol ; 5(3): 546-551, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32596499

RESUMEN

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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