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Otorhinolaryngologic Diseases - Top 30 Publications

Nasoseptal flap reconstruction after oropharyngeal cancer resection: A case report.

The nasoseptal flap has been widely used to reconstruct skull base defects with excellent success rates. Recently, there were several attempts to use this flap for other defects. Patient concerns: We present the case of the nasoseptal flap reconstruction after oropharyngeal cancer resection.

Sonography used in the infantile desmoid fibromatosis of postcricoid area: A case report.

Infantile desmoid fibromatosis of the postcricoid area is a rare disease and is characterized by a proliferation of fibrous tissue with non-metastasis, local infiltration, and a high rate of recurrence after surgical resection. Currently, ultrasound is scarcely used in the hypopharynx and larynx area.

Sudden onset of static equilibrium dysfunction in patients receiving a cochlear implant.

We investigated the sudden onset of static equilibrium dysfunction caused by cochlear implantation (CI) in congenital hearing loss patients.

"Message from a turtle": otitis with Salmonella arizonae in children: Case report.

Salmonella enterica subsp arizonae is a common gut inhabitant of reptiles (snakes are the most common reservoir, but it also occurs in turtles). Alhough human cases owing to this organism are exceedingly rare, it may occasionally infect young infants and immunocompromised individuals with a history of intimate associations with reptiles. Our case is the 20th one among the infections with S arizonae in children, but the 2nd one of otitis and the first of mastoiditis. The other cases had different anatomical locations, such as gastroenteritis, osteomyelitis, meningitis, ankle infection, wound infection, and sinusitis.

Experience of weekly cisplatin concurrent with intensity-modulated radiotherapy for locally advanced nasopharyngeal carcinoma patients with resistance to neoadjuvant chemotherapy.

Nasopharyngeal carcinoma (NPC) is highly sensitive to radiotherapy. Locally advanced NPC has a relatively poor prognosis if treated with radiotherapy alone. Several studies have demonstrated that chemoradiotherapy confers survival benefit in locally advanced NPC. However, a small proportion of patients are resistant to chemotherapy based on cisplatin. So, it is important to make a valuable and inexpensive schedule for these patients. After 2 cycles of neoadjuvant chemotherapy that consisted of gemcitabine and cisplatin (80 mg/m, every 3 weeks) or paclitaxel and cisplatin (80 mg/m, every 3 weeks), magnetic resonance imaging (MRI) was used to evaluate efficacy. A total of 13 patients with extensive nodal disease or/and bulky tumors volume were determined with a stable disease (SD) and enrolled in this study. Cisplatin at a dose of 30 mg/m administered weekly concurrent with intensity-modulated radiotherapy (IMRT) was used to treat these patients resistant to neoadjuvant chemotherapy. The efficacy was evaluated by tumor response and the change of tumor volume. After the completion of concurrent chemoradiotherapy (CCRT), the overall tumor response was a complete response (CR) for 4 of 13 (30.8%) patients and partial response (PR) for 9 of 13 (69.2%) patients. The mean primary tumor volume was reduced by 59.7% and 89.8% at the 24th fraction of IMRT and after the completion of IMRT, respectively. The mean nodal volume was reduced by 63.8% and 93.5% at the 24th fraction of IMRT and after completion of IMRT, respectively. The study showed that weekly cisplatin concurrent with IMRT improved the treatment parameters for locally advanced NPC with resistance to neoadjuvant chemotherapy based on cisplatin. It was a valuable and relatively inexpensive schedule to improve the prognosis for these patients.

Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade. Tocilizumab is a humanized, monoclonal, anti-human interleukin-6 receptor antibody routinely used to treat arthritis in children and adults. Herein we report the first case of successful treatment of PHID syndrome using tocilizumab. Before commencing tocilizumab, there was evidence of significant systemic inflammation, and progressive sclerodermatous changes (physician global assessment [PGA] 7/10). Twelve weeks after starting tocilizumab (8 mg/kg every 2 weeks, intravenously) systemic inflammatory symptoms improved, and acute phase response markers normalized; serum amyloid A reduced from 178 to 8.4 mg/L. After a dose increase to 12 mg/kg every 2 weeks her energy levels, appetite, fevers, and night sweats further improved. Less skin tightness (PGA 5/10) was documented 12 months later. This excellent clinical and serological response was sustained over 48 months, and cutaneous sclerosis had improved further (PGA 3/10). Her height remained well below the 0.4th centile, and tocilizumab also had no impact on her diabetes or exocrine pancreatic insufficiency. Although the mechanism of autoinflammation of PHID remains uncertain, we suggest that tocilizumab should be the first choice when considering treatment of the autoinflammatory or cutaneous manifestations of this genetic disease.

Treatment Outcomes of In-Office KTP Ablation of Vocal Fold Granulomas.

To determine the effectiveness of in-office potassium-titanyl-phosphate (KTP) treatment of vocal fold granulomas and identify any predictors of complete lesion resolution.

Gender Differences in the Reporting of Vocal Fatigue in Teachers as Quantified by the Vocal Fatigue Index.

Occupational voice users report higher instances of vocal health problems. Women, who are more likely than men to report voice problems, are the largest members of some occupational voice users, such as teachers. While a common complaint among this population is vocal fatigue, it has been difficult to quantify. Therefore, the goal of this study is to quantify vocal fatigue generally in school teachers and investigate any related gender differences.

Bipolar Radiofrequency Ablation (Coblation) of External Auditory Canal Lymphatic Malformation and Other Soft Stenoses.

Soft tissue occlusion of the external auditory canal (EAC) can cause intense pruritis, recurrent foul smelling otorrhea, recurrent otitis externa, and conductive hearing loss. Occlusion of the EAC can be challenging to treat as the area is prone to circumferential scarring.

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis.

Relapsing polychondritis in a liver transplant recipient: A case report.

Relapsing polychondritis (RP) is a multisystemic, progressive disease of unknown etiology characterized by recurrent inflammation and progressive cartilage destruction. It can involve all types of cartilage including ears and nose, tracheobronchial tree, joints, and any other tissue rich in proteoglycans such as heart, eyes, and blood vessels. Recurrent chondritis can be life-threatening if the respiratory tract, heart valves, or blood vessels are affected. To date there is no data in the literature on the post solid organ transplantation RP.

An atypical lipomatous tumor mimicking a giant fibrovascular polyp of the hypopharynx: A case report.

Giant fibrovascular polyps (GFVPs) found in the hypopharynx are exceedingly rare. These are benign tumors which are identified by CT or MRI and usually treated based on symptoms. Even more rarely, pathology may identify one of these masses as an atypical lipomatous tumor (ALT). This paper will present a case of an ALT of the hypopharynx that was originally classified as a GFVP, highlighting the difficulty in distinguishing between them and the importance of making the correct diagnosis.

Anticancer Effects of Colchicine on Hypopharyngeal Cancer.

Colchicine is an alkaloid widely used for the treatment of inflammatory diseases, such as gout. It suppresses cell division by inhibiting mitosis. We investigated the anticancer effects of colchicine on human hypopharyngeal cancer cells and the mechanisms underlying its anticancer effects. XTT cell proliferation assay showed that colchicine inhibited the growth and proliferation of human hypopharyngeal cancer cells (FaDu and SNU1041) in a dose- and time-dependent manner. Colchicine also inhibited the migration, invasion, and adhesion of hypopharyngeal cancer cells in a dose-dependent manner. The levels of mRNA expression and activity of matrix metalloproteinase-9 (MMP9) and urokinase-type plasminogen activator (uPA) decreased after treatment with colchicine. Further investigation revealed that colchicine inhibited the phosphorylation of the FAK/SRC complex and paxillin. Tumor volume ratios in colchicine-treated mice (0.1 mg/kg, every 2 days for 14 days) increased less than in control mice. To our knowledge, this is the first report showing that colchicine can suppress cell invasion, migration, and adhesion through reduced expression of MMP9, the uPA system, and the FAK/SRC complex. Colchicine has the potential to prevent disease progression in hypopharyngeal cancer and may have application as an adjunctive treatment.

Tetrandrine Induces Apoptosis in Human Nasopharyngeal Carcinoma NPC-TW 039 Cells by Endoplasmic Reticulum Stress and Ca(2+)/Calpain Pathways.

Tetrandrine is an alkaloid extracted from a traditional China medicine plant, and is considered part of food therapy as well. In addition, it has been widely reported to induce apoptotic cell death in many human cancer cells. However, the mechanism of Tetrandrine on human nasopharyngeal carcinoma cells (NPC) is still questioned. In our study, we examined whether Tetrandrine can induce apoptosis of NPC-TW 039 cells. We found that cell morphology was changed after treatment with different concentrations of Tetrandrine. Further, we indicated that the NPC-TW 039 cells viability decreased in a Tetrandrine dose-dependent manner. We also found that tetrandrine induced cell cycle arrest in G0/G1 phase. Tetrandrine induced DNA condensation by DAPI staining as well. In addition, we found that Tetrandrine induced Ca(2+) release in the cytosol. At the same time, endoplasmic reticulum (ER) stress occurred. Then we used western blotting to examine the protein expression which is associated with mitochondria-mediated apoptotic pathways and caspase-dependent pathways. To further examine whether Ca(2+) was released or not with Tetrandrine induced-apoptosis, we used the chelator of Ca(2+) and showed that cell viability increased. At the same time, caspase-3 expression was decreased. Furthermore, confocal microscopy examination revealed that Tetrandrine induced expression of ER stress-related proteins GADD153 and GRP78. Our results indicate that Tetrandrine induces apoptosis through calcium-mediated ER stress and caspase pathway in NPC-TW 039 cells. In conclusion, Tetrandrine may could be used for treatment of human nasopharyngeal carcinoma in future.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel. Brain and spinal cord neuropathological examination of two cases with SLC52A3 mutations showed classical symmetrical brainstem lesions resembling pathology seen in mitochondrial disease, including severe neuronal loss in the lower cranial nerve nuclei, anterior horns and corresponding nerves, atrophy of the spinothalamic and spinocerebellar tracts and posterior column-medial lemniscus pathways. Mitochondrial dysfunction has previously been implicated in an array of neurodegenerative disorders. Since riboflavin metabolites are critical components of the mitochondrial electron transport chain, we hypothesized that reduced riboflavin transport would result in impaired mitochondrial activity, and confirmed this using in vitro and in vivo models. Electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, while global knockdown of the single Drosophila melanogaster riboflavin transporter homologue revealed reduced levels of riboflavin, downstream metabolites, and electron transport chain complex I activity. This in turn led to abnormal mitochondrial membrane potential, respiratory chain activity and morphology. Riboflavin transporter knockdown in Drosophila also resulted in severely impaired locomotor activity and reduced lifespan, mirroring patient pathology, and these phenotypes could be partially rescued using a novel esterified derivative of riboflavin. Our findings expand the genetic, clinical and neuropathological features of Brown-Vialetto-Van Laere syndrome, implicate mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects, and validate riboflavin esters as a potential therapeutic strategy.

External auditory exostoses and hearing loss in the Shanidar 1 Neandertal.

The Late Pleistocene Shanidar 1 older adult male Neandertal is known for the crushing fracture of his left orbit with a probable reduction in vision, the loss of his right forearm and hand, and evidence of an abnormal gait, as well as probable diffuse idiopathic skeletal hyperostosis. He also exhibits advanced external auditory exostoses in his left auditory meatus and larger ones with complete bridging across the porus in the right meatus (both Grade 3). These growths indicate at least unilateral conductive hearing (CHL) loss, a serious sensory deprivation for a Pleistocene hunter-gatherer. This condition joins the meatal atresia of the Middle Pleistocene Atapuerca-SH Cr.4 in providing evidence of survival with conductive hearing loss (and hence serious sensory deprivation) among these Pleistocene humans. The presence of CHL in these fossils thereby reinforces the paleobiological and archeological evidence for supporting social matrices among these Pleistocene foraging peoples.

The prevalence of human papillomavirus in oropharyngeal cancer in a New Zealand population.

The incidence of oropharyngeal cancer (OPC) in New Zealand (NZ) has more than doubled over the last 14 years with 126 cases in 2010. Overseas studies have shown that human papillomavirus (HPV) plays a significant role in the development of these cancers. However, the role of HPV in OPC and the burden on the NZ health system is unclear.

Dietary vitamin D3 deficiency exacerbates sinonasal inflammation and alters local 25(OH)D3 metabolism.

Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) have been shown to be vitamin D3 (VD3) deficient, which is associated with more severe disease and increased polyp size. To gain mechanistic insights into these observational studies, we examined the impact of VD3 deficiency on inflammation and VD3 metabolism in an Aspergillus fumigatus (Af) mouse model of chronic rhinosinusitis (Af-CRS).

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients.

Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.

A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional replication initiation genes have joined the list of causative mutations for MGS (Geminin and CDC45). The identity of the causative MGS genetic variants strongly suggests that some aspect of replication is amiss in MGS patients; however, little evidence has been obtained regarding what aspect of chromosome replication is faulty. Since the site of one of the missense mutations in the human ORC4 alleles is conserved between humans and yeast, we sought to determine in what way this single amino acid change affects the process of chromosome replication, by introducing the comparable mutation into yeast (orc4Y232C). We find that yeast cells with the orc4Y232C allele have a prolonged S-phase, due to compromised replication initiation at the ribosomal DNA (rDNA) locus located on chromosome XII. The inability to initiate replication at the rDNA locus results in chromosome breakage and a severely reduced rDNA copy number in the survivors, presumably helping to ensure complete replication of chromosome XII. Although reducing rDNA copy number may help ensure complete chromosome replication, orc4Y232C cells struggle to meet the high demand for ribosomal RNA synthesis. This finding provides additional evidence linking two essential cellular pathways-DNA replication and ribosome biogenesis.

Clinical Analysis of Recurrence Patterns in Patients With Nasopharyngeal Carcinoma Treated With Intensity-Modulated Radiotherapy.

To evaluate the characteristics and risk factors for locoregional recurrence in patients with nasopharyngeal carcinoma (NPC) treated with intensity-modulated radiotherapy (IMRT).

Multisensory emotion perception in congenitally, early, and late deaf CI users.

Emotions are commonly recognized by combining auditory and visual signals (i.e., vocal and facial expressions). Yet it is unknown whether the ability to link emotional signals across modalities depends on early experience with audio-visual stimuli. In the present study, we investigated the role of auditory experience at different stages of development for auditory, visual, and multisensory emotion recognition abilities in three groups of adolescent and adult cochlear implant (CI) users. CI users had a different deafness onset and were compared to three groups of age- and gender-matched hearing control participants. We hypothesized that congenitally deaf (CD) but not early deaf (ED) and late deaf (LD) CI users would show reduced multisensory interactions and a higher visual dominance in emotion perception than their hearing controls. The CD (n = 7), ED (deafness onset: <3 years of age; n = 7), and LD (deafness onset: >3 years; n = 13) CI users and the control participants performed an emotion recognition task with auditory, visual, and audio-visual emotionally congruent and incongruent nonsense speech stimuli. In different blocks, participants judged either the vocal (Voice task) or the facial expressions (Face task). In the Voice task, all three CI groups performed overall less efficiently than their respective controls and experienced higher interference from incongruent facial information. Furthermore, the ED CI users benefitted more than their controls from congruent faces and the CD CI users showed an analogous trend. In the Face task, recognition efficiency of the CI users and controls did not differ. Our results suggest that CI users acquire multisensory interactions to some degree, even after congenital deafness. When judging affective prosody they appear impaired and more strongly biased by concurrent facial information than typically hearing individuals. We speculate that limitations inherent to the CI contribute to these group differences.

MiR-503 enhances the radiosensitivity of laryngeal carcinoma cells via the inhibition of WEE1.

Enhancing the sensitivity of laryngeal cells to radiation is crucial for improving the efficacy of laryngeal carcinoma. MicroRNAs are known to play a major role in regulating cellular radiosensitivity. This study was designed to explore the effect and the molecular basis of miR-503 in the radiosensitivity of laryngeal carcinoma cells. Quantitative real-time polymerase chain reaction analysis showed that miR-503 expression was decreased in human laryngeal carcinoma cell lines Hep-2 and TU212, and the downregulation of miR-503 was also observed after irradiation. Upregulation of miR-503 by pre-miR-503 transfection restrained proliferation, promoted progression of Hep-2 and TU212 cells through the cell cycle after irradiation, and sensitized cells to radiation. Dual-Luciferase Reporter Assay verified a direct interaction between miR-503 and the WEE1 messenger RNA 3'-untranslated region. The overexpression of miR-503 significantly decreased WEE1 expression at the messenger RNA and protein levels, whereas the inhibition of miR-503 upregulated the expression of WEE1. WEE1 knockdown by WEE1 small interfering RNA apparently abrogated the inhibitory effect of anti-miR-503 on radiosensitivity. In conclusion, miR-503 could function as an enhancer of radiation responses in laryngeal carcinoma cells by inhibiting WEE1, which may be a potential novel radiosensitizing strategy for laryngeal carcinoma.

Pregnancy Outcomes Among Deaf Women in Washington State, 1987-2012.

To evaluate pregnancy and neonatal outcomes among deaf women using population-based vital records data in Washington State from 1987 to 2012.

Differential Prognostic Value of Metabolic Heterogeneity of Primary Tumor and Metastatic Lymph Nodes in Patients with Pharyngeal Cancer.

We aimed to explore the prognostic value of metabolic heterogeneity of (18)F-FDG uptake in chemoradiotherapy-treated pharyngeal cancer patients.

Deregulation of PTEN Expression in Laryngeal Squamous Cell Carcinoma Based on Tissue Microarray Digital Analysis.

Phosphatase and tensin homolog (PTEN) (gene locus: 10q23.3) -a tumor suppressor gene- is deleted, mutated or epigenetically hyper-methylated in a variety of malignancies. PTEN acts as a negative regulator in PI3K/AKT/mTOR signaling transduction pathway. Our aim was to investigate PTEN protein expression patterns in laryngeal squamous cell carcinomas (LSCC).

Human Papillomavirus and Potentially Relevant Biomarkers in Tonsillar and Base of Tongue Squamous Cell Carcinoma.

Human papillomavirus (HPV)-positive tonsillar- and base of tongue cancer is increasing epidemically and has much better outcome than corresponding HPV-negative cancer and most other head and neck cancers with around 80% 3-year disease free survival with conventional radiotherapy and surgery. Consequently, most HPV-positive cancer patients may not require the intensified chemoradiotherapy given to many head and neck cancer patients and would, with tapered treatment, avoid several severe side-effects. Moreover, intensified therapy has not improved survival and treatment alternatives are needed. To identify patients eligible for tapered or targeted therapy, additional biomarkers are required. Several studies have, therefore, focused on finding predictive markers, some of which are also potentially targetable. To conclude, better-tailored therapy, either as tapered or targeted, is important for increasing numbers of patients with HPV-positive tonsillar- and base of tongue cancer. This review deals with some of these issues and presents some promising markers.

Zitelli bilobed flap for the reconstruction of the nasal pyramid after excision of basal cell carcinoma (BCC).

We report the case of a 65-year old patient presenting with well-defined nodular basal cell carcinom measuring 5mm in diameter in the right paramedian nasal tip and the superior margin of the nasal wing, near the free edge. The tumor was removed, with resection margin of 1mm. It was associated with multiple hyperkeratotic lesions spread across his face. The patient was a farmer with a past history of massive sun exposure. He lived in rural, mountainous and remote regions. The nasal tumor had evolved very slowly and very gradually in volume. The patient underwent surgical excision of BCC with resection margin of 1mm. We reconstructed the loss-of-substance with a very simple small local flap (Zitelli bilobed flap) which allowed to cover the loss of substance and to close it. The recipient healed well after one month-follow-up of local treatment and dressings. The patient underwent the removal of the sutures on day 10, then he underwent fat dressings with cortisone cream every other day over a period of 15 days.

Usher syndrome: about a case.

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

Time-compressed speech test in the elderly.

The present study aimed to evaluate the performance of elderly people in the time-compressed speech test according to the variables ears and order of display, and analyze the types of errors presented by the volunteers.