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1.
Genes (Basel) ; 10(10)2019 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-31554319

RESUMO

TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-frequency hearing loss. The rate of hearing deterioration in TECTA-associated hearing loss patients and in the normal hearing Japanese control population were the same and regression lines for each group were parallel. We carried out haplotype analysis for four families which had one recurring missense variant, c.5597C>T (p.Thr1866Met). Our results revealed four different haplotypes, suggesting that this mutation occurred independently in each family. In conclusion, TECTA variants represent the second largest cause of autosomal dominant sensorineural hearing loss in Japan. The hearing loss progression observed in the patients with TECTA mutations might reflect presbycusis. The c.5597C>T mutation occurred in a mutational hot spot and is observed in many ethnic populations.

2.
PLoS One ; 14(5): e0215932, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31095577

RESUMO

The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also reported to be the most common cause of non-syndromic recessive auditory neuropathy spectrum disorder (ANSD). In the present study, we performed OTOF mutation analysis using massively parallel DNA sequencing (MPS). The purpose of this study was to reveal the frequency and precise genetic and clinical background of OTOF-related hearing loss in a large hearing loss population. A total of 2,265 Japanese sensorineural hearing loss (SNHL) patients compatible with autosomal recessive inheritance (including sporadic cases) from 53 otorhinolaryngology departments nationwide participated in this study. The mutation analysis of 68 genes, including the OTOF gene, reported to cause non-syndromic hearing loss was performed using MPS. Thirty-nine out of the 2,265 patients (1.72%) carried homozygous or compound heterozygous mutations in the OTOF gene. It is assumed that the frequency of hearing loss associated with OTOF mutations is about 1.72% of autosomal recessive or sporadic SNHL cases. Hearing level information was available for 32 of 39 patients with biallelic OTOF mutations; 24 of them (75.0%) showed profound hearing loss, 7 (21.9%) showed severe hearing loss and 1 (3.1%) showed mild hearing loss. The hearing level of patients with biallelic OTOF mutations in this study was mostly severe to profound, which is consistent with the results of past reports. Eleven of the 39 patients with biallelic OTOF mutations had been diagnosed with ANSD. The genetic diagnosis of OTOF mutations has significant benefits in terms of clinical decision-making. Patients with OTOF mutations would be good candidates for cochlear implantation; therefore, the detection of OTOF mutations is quite beneficial for patients, especially for those with ANSD.

3.
Sci Rep ; 9(1): 4408, 2019 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-30867468

RESUMO

Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss. For CNV analysis, we employed a specialized method of Ion AmpliSeqTM sequencing, and confirmed the CNV results via custom array comparative genomic hybridization. We identified 17 probands with STRC homozygous deletions. The prevalence of STRC homozygous deletions was 1.7% in the hearing loss population overall, and 4.3% among mild-to-moderate hearing loss patients. A 2.63% carrier deletion rate was identified in both the hearing loss and the control population with normal hearing. In conclusion, our results show that STRC deletions are the second most common cause of mild-to-moderate hearing loss after the GJB2 gene, which accounts for the majority of genetic hearing loss. The phenotype of hearing loss is congenital and appears to be moderate, and is most likely to be stable without deterioration even after the age of 50. The present study highlights the importance of the STRC gene as a major cause of mild-to-moderate hearing loss.

4.
Auris Nasus Larynx ; 46(4): 507-512, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30527902

RESUMO

OBJECTIVE: It remains controversial whether nasal nitric oxide (NO) serves as a reliable parameter to evaluate treatment efficacy in patients with allergic rhinitis (AR). The measurement of local nasal NO levels has been shown to be a sensitive marker for the diagnosis of symptomatic AR patients. Here we assessed the applicability of nasal NO to evaluations of the efficacy of intranasal steroids (INS) in a prospective design. METHODS: We enrolled 25 patients with perennial AR and 10 age-matched healthy participants. The AR patients received fluticasone furoate (FF) once daily for 2 months. Fractional exhaled NO and nasal NO measurements were carried out using an electrochemical analyzer at pretreatment and at 2 weeks and 2 months after treatment. Nasal NO levels were directly measured at two different areas of the nasal cavity: the surface of the inferior turbinate (IT area) and the front of the middle meatus (MM area). Subjective nasal symptoms were also recorded at each visit. RESULTS: The mean total nasal symptom score in the AR patients decreased significantly after FF treatment (p<0.0001). The mean nasal NO levels in the IT area in the AR patients were significantly higher at pretreatment than those of the healthy participants (109 vs. 62.5 ppb, respectively; p<0.001). After FF administration, the nasal NO levels in the IT area of the AR group showed a significant reduction at both 2 weeks and 2 months (79.1 and 71.9 ppb, respectively; p<0.05 and p<0.01). There was no significant difference in nasal NO levels in the MM area between the controls and the AR group at any visit timepoint. When the ratio of the MM area to the IT area (MM/IT ratio) was plotted for each subject, the untreated AR patients showed a marked decrease in the ratio, whereas after the FF treatment, the AR patients' mean MM/IT ratios showed a significant increase. No significant difference compared to the control group existed at 2 months. CONCLUSION: Nasal NO measurement around the inferior turbinate is an objective measure to evaluate allergic conditions and is useful to monitor therapeutic effects of INS.

5.
Auris Nasus Larynx ; 2018 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-30442438

RESUMO

CheckMate 141, an open-label, randomized phase III trial of nivolumab, indicated that treatment with nivolumab prolonged overall survival of patients with platinum-refractory, recurrent head and neck squamous cell carcinoma. Herein, we describe a case of brain metastasis of parotid carcinoma in which a good response was achieved after nivolumab treatment. The patient was a 67-year-old woman with parotid carcinoma (cT4bN0M0) who received induction chemotherapy followed by chemoradiation. Computed tomography and magnetic resonance imaging performed 10 weeks after the primary treatment revealed a residual tumor and brain and lung metastases. Thereafter, chemotherapy comprising cisplatin, 5-FU, and cetuximab was performed. Unfortunately, the tumor volume increased 5 months after chemotherapy, after which she received immunotherapy with biweekly nivolumab. After six cycles of nivolumab administration, the brain and lung metastases shrank markedly. Nivolumab had an intracranial effect in the patient with brain metastases of parotid carcinoma. This case report highlights the efficacy of nivolumab in the management of head and neck cancer with brain metastasis.

6.
Ear Hear ; 39(3): 540-547, 2018 May/Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29095241

RESUMO

OBJECTIVES: Cochlear implantation (CI) has been the most successful procedure for restoring hearing in a patient with severe and profound hearing loss. However, possibly owing to the variable brain functions of each patient, its performance and the associated patient satisfaction are widely variable. The authors hypothesize that peripheral and cerebral circulation can be assessed by noninvasive and globally available methods, yielding superior presurgical predictive factors of the performance of CI in adult patients with postlingual hearing loss who are scheduled to undergo CI. DESIGN: Twenty-two adult patients with cochlear implants for postlingual hearing loss were evaluated using Doppler sonography measurement of the cervical arteries (reflecting cerebral blood flow), flow-mediated dilation (FMD; reflecting the condition of cerebral arteries), and their pre-/post-CI best score on a monosyllabic discrimination test (pre-/post-CI best monosyllabic discrimination [BMD] score). Correlations between post-CI BMD score and the other factors were examined using univariate analysis and stepwise multiple linear regression analysis. The prediction factors were calculated by examining the receiver-operating characteristic curve between post-CI BMD score and the significantly positively correlated factors. RESULTS: Age and duration of deafness had a moderately negative correlation. The mean velocity of the internal carotid arteries and FMD had a moderate-to-strong positive correlation with the post-CI BMD score in univariate analysis. Stepwise multiple linear regression analysis revealed that only FMD was significantly positively correlated with post-CI BMD score. Analysis of the receiver-operating characteristic curve showed that a FMD cutoff score of 1.8 significantly predicted post-CI BMD score. CONCLUSIONS: These data suggest that FMD is a convenient, noninvasive, and widely available tool for predicting the efficacy of cochlear implants. An FMD cutoff score of 1.8 could be a good index for determining whether patients will hear well with cochlear implants. It could also be used to predict whether cochlear implants will provide good speech recognition benefits to candidates, even if their speech discrimination is poor. This FMD index could become a useful predictive tool for candidates with poor speech discrimination to determine the efficacy of CI before surgery.

7.
Auris Nasus Larynx ; 45(4): 718-721, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29102419

RESUMO

OBJECTIVE: This study investigated: (i) changes in the incidence of acute otitis media (AOM) following introduction of public funding for free inoculation with 7- and 13-valent pneumococcal conjugate vaccines (PCV7 and PCV13, respectively) and (ii) changes in the rate of myringotomies for AOM (MyfA) in children 1year following the publication of the first edition of the clinical practice guidelines for the diagnosis and management of AOM in children in Japan. METHODS: PCV7 was launched on the Japanese market in 2010 and gained public funding in 2011. PCV7 was replaced with PCV13 in November 2013. Using the Japan Medical Data Center Claims Database, an 11-year study conducted between January 2005 and December 2015 investigated the decline in the incidence of visits to medical institutions (VtMI) due to all-cause AOM in children <15years. The rate of MyfA from January 2007 to December 2015was also investigated and changes before and after introduction of public funding for PCV7 (pfPCV7) and PCV13 (pfPCV13) for children were examined. Statistical data for the age group between 10 years and <15years served as the control. An analysis was conducted to examine changes for each age group, from infants that had received PCVs to children <5years. Statistical analysis was performed using the chi-square test and Ryan's multiple comparison tests. Ryan's multiple comparison tests were applied at a 5% level of significance. Due to significant changes in the guidelines on the indications for myringotomy introduced in 2013, statistical analysis of the rate of MyfA was limited to the pre- and post-PCV7 period. RESULTS: After introduction of pfPCV7 and pfPCV13, no significant suppression of the incidence of VtMI was observed in any age group. There was a gradual decline in the rate of MyfA after 2011. Compared to the control group, significant differences in all age groups from infants to children <5years were observed (p<0.009, chi-square test). Within 2 years after the introduction of PCV7, a significant decline in the rate of MyfA was observed in 1- and 5-year-olds using Ryan's multiple comparison tests at a 5% level of significance. CONCLUSION: The preventative effect of PCVs on AOM was not established in this study. There was, however, a significant decline in the rate of MyfA among 1- and 5-year-olds. Taking into consideration past studies, PCV7 may play a role in preventing the aggravation of AOM in 1-year-olds. When evaluating the effectiveness of PCVs, measures to evaluate severity may be as important as evaluating disease prevention.


Assuntos
Vacina Pneumocócica Conjugada Heptavalente/uso terapêutico , Otite Média/epidemiologia , Vacinas Pneumocócicas/uso terapêutico , Doença Aguda , Adolescente , Criança , Pré-Escolar , Feminino , Financiamento Governamental , Financiamento da Assistência à Saúde , Vacina Pneumocócica Conjugada Heptavalente/economia , Humanos , Incidência , Lactente , Japão/epidemiologia , Masculino , Ventilação da Orelha Média/tendências , Otite Média/cirurgia , Vacinas Pneumocócicas/economia
8.
J Otolaryngol Head Neck Surg ; 46(1): 36, 2017 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-28464955

RESUMO

BACKGROUND: Eosinophilic chronic frontal sinusitis is difficult to treat compared with non-eosinophilic sinusitis because of recurring inflammation and polyp formation in the frontal recess after the post-operative follow-up period. Studying inflammatory mediators in the frontal recess of eosinophilic chronic rhinosinusitis (ECRS) patients and non-eosinophilic chronic rhinosinusitis (non-ECRS) patients may lead to a better understanding of the pathogenesis of chronic frontal sinusitis. METHODS: Homogenates of sinonasal mucosa from 20 non-ECRS patients and 36 ECRS patients were measured for levels of transforming growth factor (TGF)-ß, interleukin (IL)-5, IL-6, and inducible nitric oxide synthase (iNOS) using real-time RT-PCR and TaqMan gene expression assays. Sinonasal mucosal specimens were obtained from the frontal recess, ethmoid sinus, and nasal polyp separately. RESULTS: The expression of IL-5 was significantly elevated in all sinonasal regions tested in the ECRS group, but absent in non-ECRS patients. Furthermore, the ECRS patients showed significantly increased levels of IL-5 in the frontal recess mucosa compared with ethmoid sinus mucosa. IL-6 was also significantly increased in the frontal recess mucosa compared with ethmoid sinus mucosa and nasal polyps in these patients. There were no significant differences in the levels of TGF-ß or iNOS between the ECRS and non-ECRS groups in any sinonasal region tested. CONCLUSIONS: This study is the first to characterize the cytokine milieu in the frontal recess of ECRS patients. We should keep these cytokine profiles in mind when we treat ECRS patients with frontal sinusitis.


Assuntos
Eosinofilia/metabolismo , Sinusite Frontal/metabolismo , Interleucina-5/metabolismo , Interleucina-6/metabolismo , Rinite/metabolismo , Adulto , Idoso , Estudos de Casos e Controles , Doença Crônica , Eosinofilia/complicações , Eosinofilia/patologia , Seio Etmoidal/metabolismo , Feminino , Sinusite Frontal/complicações , Sinusite Frontal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mucosa Nasal/metabolismo , Pólipos Nasais/complicações , Pólipos Nasais/metabolismo , Pólipos Nasais/patologia , Óxido Nítrico Sintase Tipo II/metabolismo , Rinite/complicações , Rinite/patologia , Fator de Crescimento Transformador beta/metabolismo , Adulto Jovem
9.
Int J Otolaryngol ; 2017: 1907862, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29379524

RESUMO

The posterior nasal nerves emerge from the sphenopalatine foramen and contain sensory and autonomic nerve components. Posterior nasal neurectomy is an effective method to remove pathological neural networks surrounding the inferior turbinate that cause unregulated nasal hypersensitivity with excess secretion in patients with severe allergic rhinitis (AR). We describe the sophisticated endoscopic surgical procedure that allows feasible access to the confined area and selective resection of the nerve branches with the preservation of the sphenopalatine artery (SPA). We retrospectively analyzed the cases of 23 symptomatic severe AR patients who failed to respond to standard medical treatment and underwent surgery. There have been no major complications after surgery including nasal bleeding or transient numbness of the upper teeth. The mean total nasal symptom scores (TNSS) were decreased by 70.2% at 12 months after the procedure. Our comparison of the clinical effectiveness based on the number of severed nerve branches revealed that the improvement of the TNSS was significantly higher in patients with >2 branches. We conclude that this minimally invasive technique that preserves the SPA is clinically useful and decreases the rate of postoperative complications. This trial is registered with UMIN000029025.

10.
Eur J Med Genet ; 58(9): 427-32, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26211601

RESUMO

Human noggin (NOG) gene mutation causes multiple bony disorders showing up as stapes ankylosis with broad thumbs and toes (SABTT), proximal symphalangism (SYM1), multiple synostoses syndrome 1 (SYNS1), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2). These phenotypes are defined as NOG-related syndromes with the same mutation. Some of these syndromes feature stapes ankylosis as one of the several bony symptoms. Here, we report a Japanese family with conductive hearing loss due to congenital stapes ankylosis. This family showed multiple features and was diagnosed with SABTT. We performed analysis of the NOG in the family by direct sequence analysis, and found a novel NOG mutation: c.682 T> G (p.C228G). Our results and a review of previous cases with NOG protein conformation suggest that this mutated NOG protein lead to a change in antagonist activity in BMPs and/or a haploinsufficiency that likely impaired finger 2 structure.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades , Sequência de Aminoácidos , Proteínas de Transporte/metabolismo , Feminino , Deformidades Congênitas do Pé/diagnóstico , Estudos de Associação Genética , Deformidades Congênitas da Mão/diagnóstico , Haploinsuficiência/genética , Perda Auditiva Condutiva/diagnóstico , Perda Auditiva Condutiva/genética , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Linhagem , Fenótipo , Conformação Proteica , Sinostose/diagnóstico , Polegar/anormalidades , Dedos do Pé/anormalidades
11.
Allergol Int ; 63(3): 475-83, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24957116

RESUMO

BACKGROUND: Because of the anatomical complexity and the high output of the human nose, it has been unclear whether nasal nitric oxide (NO) serves as a reliable marker of allergic rhinitis (AR). We examined whether nasal NO levels in the inferior turbinate (IT) surface and the middle meatus (MM) differ in symptomatic AR patients. METHODS: We measured fractional exhaled NO (FeNO) and nasal NO in normal subjects (n = 50) and AR patients with mild symptoms (n = 16) or moderate or severe symptoms (n = 27). Nasal NO measurements were obtained using an electrochemical analyzer connected to a catheter and an air-suction pump (flow rate 50mL/sec). RESULTS: Compared to the normal subjects, the AR patients showed significantly higher nasal FeNO and nasal NO levels in the IT area. No significant difference in the MM area was observed among the three groups. The MM area showed higher NO levels than the IT area in all three groups. The ratio of nasal NO levels of the MM area to the IT area (MM/IT ratio) was significantly lower in the AR groups. The moderate/severe AR patients showed significantly higher nasal NO in the IT area (104.4 vs. 66.2ppb) and lower MM/IT ratios than those in the mild AR patients. The analysis of nasal brushing cells revealed significantly higher eosinophil cationic protein and nitrotyrosine levels in the AR groups. CONCLUSIONS: Nasal NO assessment in the IT area directly reflects persistent eosinophilic inflammation and may be a valid marker to estimate the severity of AR.


Assuntos
Cavidade Nasal/metabolismo , Óxido Nítrico/metabolismo , Rinite Alérgica/diagnóstico , Conchas Nasais/metabolismo , Adulto , Biomarcadores/análise , Biomarcadores/metabolismo , Testes Respiratórios/métodos , Progressão da Doença , Proteína Catiônica de Eosinófilo/metabolismo , Eosinófilos/patologia , Expiração , Feminino , Humanos , Masculino , Cavidade Nasal/patologia , Óxido Nítrico/análise , Tirosina/análogos & derivados , Tirosina/metabolismo
12.
Allergol Int ; 63(3): 475-483, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-28942935

RESUMO

BACKGROUND: Because of the anatomical complexity and the high output of the human nose, it has been unclear whether nasal nitric oxide (NO) serves as a reliable marker of allergic rhinitis (AR). We examined whether nasal NO levels in the inferior turbinate (IT) surface and the middle meatus (MM) differ in symptomatic AR patients. METHODS: We measured fractional exhaled NO (FeNO) and nasal NO in normal subjects (n = 50) and AR patients with mild symptoms (n = 16) or moderate or severe symptoms (n = 27). Nasal NO measurements were obtained using an electrochemical analyzer connected to a catheter and an air-suction pump (flow rate 50 mL/ sec). RESULTS: Compared to the normal subjects, the AR patients showed significantly higher nasal FeNO and nasal NO levels in the IT area. No significant difference in the MM area was observed among the three groups. The MM area showed higher NO levels than the IT area in all three groups. The ratio of nasal NO levels of the MM area to the IT area (MM/IT ratio) was significantly lower in the AR groups. The moderate/severe AR patients showed significantly higher nasal NO in the IT area (104.4 vs. 66.2 ppb) and lower MM/IT ratios than those in the mild AR patients. The analysis of nasal brushing cells revealed significantly higher eosinophil cationic protein and nitrotyrosine levels in the AR groups. CONCLUSIONS: Nasal NO assessment in the IT area directly reflects persistent eosinophilic inflammation and may be a valid marker to estimate the severity of AR.

14.
Rhinology ; 50(4): 408-16, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23181255

RESUMO

OBJECTIVE: Trefoil factor family peptides (TFFs) are the secretory products of mucous cells and are closely associated with mucins. TFFs appear to be important in mucosal healing processes. Although TFF1/3 are expressed in the human respiratory tract, their role in the nasal mucosa is not thoroughly understood. We investigated the association between TFFs and mucins and the role TFFs in the human nasal mucosa. MATERIAL AND METHODS: Patients undergoing turbinectomy were included and it was determined whether patients had nasal allergies or not. The localization of TFF1/3, MUC5AC/5B expression was investigated using immunohistochemistry. The levels of the mRNA transcripts were examined using quantitative real-time PCR. RESULTS: TFF1/3 had a similar pattern of localization in epithelial goblet cells and submucosal glandular cells. TFF1/3 co-localized with MUC5AC in the epithelium, and co-localized with MUC5B in the epithelium and the submucosal glandular cells. The levels of TFF1/3 and MUC5B mRNA in allergic patients were significantly increased. CONCLUSION: Our results suggest that TFF1/3 may associate with MUC5AC and MUC5B in the nasal mucosa, and that up-regulation of TFF1/3 and MUC5B may play an important role in the clinical condition of the nasal allergic mucosa.


Assuntos
Mucosa Nasal/metabolismo , Peptídeos/metabolismo , Proteínas Supressoras de Tumor/metabolismo , Adulto , Idoso , Epitélio/metabolismo , Feminino , Células Caliciformes/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Mucina-5AC/metabolismo , Mucina-5B/metabolismo , Mucinas/metabolismo , Mucosa Nasal/imunologia , Reação em Cadeia da Polimerase em Tempo Real , Fator Trefoil-1 , Fator Trefoil-3 , Regulação para Cima/fisiologia
15.
Allergol Int ; 59(3): 247-256, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20567131

RESUMO

The overall pathological view of paranasal sinus inflammation in the Japanese population has profoundly changed in recent years. Eosinophilic chronic rhinosinusitis (ECRS) is a clinical entity of intractable chronic sinus inflammation accompanied by numerous infiltrations of activated eosinophils in the paranasal sinus mucosa and/or nasal polyps. Several pathologic processes are considered to act in concert to promote the accumulation of eosinophils in ECRS. They include infiltration of progenitor cells, increase in local IL-3, IL-5, IL-13, GM-CSF and eotaxin production, and upregulation of adhesion molecules. The role of nasal allergen sensitization and innate immunity responses in the sinus mucosa has also been proposed in the development of ECRS. Various pathogens including TLRs ligands may trigger an abnormal immune response at the mucosal surface. The objectives of ECRS management should focus directly on inhibition of local eosinophil infiltration. Surgical procedures include widely opening the bony wall septum of every affected sinus and mechanical removal of diseased mucosal lesion. The use of local and/or systemic steroids, leukotriene receptor antagonists, and Th2 cytokine antagonists is recommended. Local administration of steroids is a potent treatment strategy for preventing relapse of nasal polyposis and is considered to be the first-line treatment for ECRS patients.


Assuntos
Eosinófilos/imunologia , Pólipos Nasais/imunologia , Seios Paranasais/imunologia , Rinite/imunologia , Sinusite/imunologia , Animais , Anti-Inflamatórios/uso terapêutico , Doença Crônica , Eosinófilos/efeitos dos fármacos , Eosinófilos/patologia , Humanos , Japão , Mucosa Nasal/imunologia , Pólipos Nasais/patologia , Seios Paranasais/patologia , Seios Paranasais/cirurgia , Rinite/tratamento farmacológico , Rinite/fisiopatologia , Sinusite/tratamento farmacológico , Sinusite/fisiopatologia , Esteroides/uso terapêutico
16.
Auris Nasus Larynx ; 37(6): 700-7, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20488636

RESUMO

OBJECTIVE: Patients with eosinophilic chronic rhinosinusitis (ECRS) show a high percentage of eosinophilic infiltration in the paranasal sinus mucosa. It is well documented that topical steroids have a beneficial effect in ECRS with nasal polyposis. We investigated mucosal distribution and cellular localization of glucocorticoid receptor (GR) isoform expression in human paranasal sinuses in relation to the clinical characteristics of eosinophilic chronic rhinosinusitis (ECRS) patients. METHODS: Mucosal specimens were obtained from 20 sinusitis patients by endoscopic sinus surgery (ESS). Quantitative fluorescence immunohistochemical analysis was employed to examine the degree of glucocorticoid receptor (GR) isoform expression in sinus mucosa specimens. An RT-PCR procedure was performed to determine the relative quantities of mRNA for the human GRalpha and GRbeta genes. RESULTS: Patients in the ECRS group showed significant increases in peripheral blood eosinophils as compared to the non-ECRS group (16.98% vs. 2.31%). Positive immunoreactivity of GRbeta expression was predominantly found to be positive in inflammatory cells. The absolute number of GRbeta-positive cells in the ECRS group was increased in comparison with that in the non-ECRS group. The difference was statistically significant both in the maxillary (179.7 cells/mm(2) vs. 82.5 cells/mm(2)) and ethmoid sinus (302.0 cells/mm(2) vs. 61.5 cells/mm(2)) mucosa. The GRbeta/GRalpha cell ratio in the ECRS group was elevated when compared with that in the non-ECRS group both in the maxillary and the ethmoid sinus mucosa, with the latter difference being significant. CONCLUSIONS: The presence of high peripheral eosinophilia indicates a high likelihood of ECRS disease. Our results support the association of GRbeta expression with ECRS. The expression of GRbeta immunoreactivity, an endogenous inhibitor of steroid action previously associated with steroid insensitivity, may be one of major contributing factors in ECRS.


Assuntos
Eosinofilia/metabolismo , Membrana Mucosa/metabolismo , Seios Paranasais/metabolismo , Receptores de Glucocorticoides/metabolismo , Rinite/metabolismo , Sinusite/metabolismo , Adulto , Doença Crônica , Eosinofilia/complicações , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/metabolismo , Receptores de Glucocorticoides/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Rinite/complicações , Sinusite/complicações , Distribuição Tecidual , Adulto Jovem
17.
Auris Nasus Larynx ; 37(4): 519-21, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20172670

RESUMO

First described in 1969, syringoid eccrine carcinoma (SEC) is a rare cutaneous tumor with some controversy regarding its correct definition. It consists of solid nests and small cords in a dense fibrocollagenous stroma. As it is rare, its clinical appearance is not well characterized and its biological behaviour is not defined. It usually affects skin of the scalp, extremities and more rarely, other sites. It behaves as locally aggressive tumor but metastases are rare. Although there have been some previous reports describing clinical presentation and management of SEC in the skin, there has been no previous reports describing clinical findings and management of this tumor in the external auditory canal. We report a case of a 57-year-old female with small solitary mass in left external auditory canal associated with discharge, severe itching and bleeding on manipulation. Complete local excision is the recommended method for diagnosis and treatment of this tumor in the external auditory canal. This extremely rare case serves as a springboard for the diagnosis as well as the management of SEC in external auditory canal.


Assuntos
Carcinoma/patologia , Meato Acústico Externo/patologia , Neoplasias da Orelha/patologia , Glândulas Écrinas/patologia , Queratinas/biossíntese , Neoplasias das Glândulas Sudoríparas/patologia , Biomarcadores Tumorais/metabolismo , Carcinoma/metabolismo , Carcinoma/cirurgia , Meato Acústico Externo/metabolismo , Meato Acústico Externo/cirurgia , Neoplasias da Orelha/metabolismo , Neoplasias da Orelha/cirurgia , Glândulas Écrinas/metabolismo , Glândulas Écrinas/cirurgia , Feminino , Humanos , Técnicas Imunoenzimáticas , Queratinas/classificação , Pessoa de Meia-Idade , Invasividade Neoplásica , Estadiamento de Neoplasias , Couro Cabeludo/patologia , Couro Cabeludo/cirurgia , Neoplasias das Glândulas Sudoríparas/metabolismo , Neoplasias das Glândulas Sudoríparas/cirurgia
18.
Auris Nasus Larynx ; 37(4): 427-35, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20047808

RESUMO

OBJECTIVE: Increased understanding of cytokines and their associated proteoglycans will contribute to the investigation of the formation of nasal polyps. Recently, some studies have suggested that syndecan-1 ectodomains are shed in response to low respiratory infection, but no studies regarding nasal and paranasal diseases have been reported. Transforming growth factor-beta (TGF-beta) is involved in the regulation of nasal polyps, especially in processes crucial to the initiation, maintenance, and resolution of inflammatory responses. In the nasal mucosa and nasal polyps, we analyzed the expression of syndecan-1, which readily promotes infection, and TGF-beta, which plays a role in syndecan-1 activity. METHODS: Fifteen patients who underwent turbinectomy for the treatment of nasal obstruction and seventeen patients with nasal polyps who underwent nasal endoscopic sinus surgery were included in this study. The localization of syndecan-1 and TGF-beta in the nasal mucosa and nasal polyps was investigated by immunohistochemistry, and mRNA transcript levels of syndecan-1 and TGF-beta were examined using quantitative real-time PCR. RESULTS: Immunohistochemical staining revealed that the expression of syndecan-1 in the nasal mucosa and nasal polyps was co-localized with TGF-beta. The mean mRNA expression values for syndecan-1 and TGF-beta were higher in nasal polyps compared to the nasal mucosa. CONCLUSIONS: This is the first report showing expression of syndecan-1 in the nasal mucosa and nasal polyps. In nasal polyps, syndecan-1 expression may be increased by an unknown mechanism, permitting infection and inducing larger nasal polyps. We hypothesize that the accumulation of TGF-beta, which is involved in the pathophysiological development of nasal polyps, may result in a change in the binding properties of syndecan-1 at inflammatory sites.


Assuntos
Linfotoxina-alfa/genética , Linfotoxina-alfa/metabolismo , Mucosa Nasal/metabolismo , Pólipos Nasais/genética , Pólipos Nasais/metabolismo , Sindecana-1/genética , Sindecana-1/metabolismo , Adulto , Idoso , Feminino , Humanos , Imuno-Histoquímica , Elastase de Leucócito/metabolismo , Masculino , Pessoa de Meia-Idade , Mucosa Nasal/patologia , Pólipos Nasais/patologia , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
19.
Rhinology ; 47(4): 413-8, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19936369

RESUMO

OBJECTIVES: The aim of this study was to examine the innate immune response induced by toll-like receptors (TLRs) in the paranasal sinus epithelial cells in cell culture models and to examine the effect of glucocorticoids (GCs) on the innate immune response. METHODS: After stimulation with lipopolysaccharide (LPS) and peptidoglycan (PGN), p50 level was measured as an index of the innate response in the paranasal sinus epithelium. To observe the effect of GCs, the specimens were pre-treated with dexamethasone (DEX) for 48 hours prior to stimulation. On immunocytochemistry GR, TLR2 and TLR4 in the paranasal sinus epithelium were observed. RESULTS: The p50 activity levels increased after stimulation with LPS and PGN in a dose-dependent manner. Pretreatment with DEX significantly suppressed the increase in p50 activity levels induced by LPS and PGN. On immunocytochemistry, TLR2 and TLR4 immunoreactivities were relatively high after 48h DEX pretreatment. CONCLUSION: The increase in NF-kappaB activity after LPS and PGN stimulation suggests that stimulation through TLR2 and TLR4 may induce high cytokine expression and inflammatory cell migration in the paranasal sinus epithelial cells. In paranasal sinus epithelial cells GCs not only have anti-inflammatory effects through transcription factor inhibition but also enhance innate host defences.


Assuntos
Dexametasona/farmacologia , Células Epiteliais/imunologia , Glucocorticoides/farmacologia , NF-kappa B/efeitos dos fármacos , Seios Paranasais/imunologia , Receptor 2 Toll-Like/fisiologia , Receptor 4 Toll-Like/fisiologia , Adulto , Células Cultivadas , Relação Dose-Resposta a Droga , Feminino , Humanos , Imunidade Inata , Imuno-Histoquímica , Lipopolissacarídeos/farmacologia , Masculino , NF-kappa B/análise , Peptidoglicano/farmacologia
20.
Rhinology ; 47(2): 217-21, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19593982

RESUMO

Schizophillum commune (S. commune) is a rare type of basidiomycetous fungus that has being reported as a cause of allergic fungal rhinosinusitis (AFRS), invasive type of fungal sinusitis and allergic bronchopulmonary mycosis (ABPM). However, it is believed that S. commune was often misdiagnosed to Aspergillus sp. We report a case of bilateral nasal polyps and maxillary, ethmoidal and sphenoidal involvement within the context of S. commune and Aspergillus niger associated AFRS. Our patient was suffering from a chronic disease with periods of remission and exacerbation and was treated successfully by a combination of surgical and antifungal treatment. In our experience, S. commune may be found frequently in patients with AFRS. AFRS, including the S. commune-associated type, usually runs a prolonged course and can affect any paranasal sinus. Surgical treatment alone is not sufficient and must be combined with medical treatment.


Assuntos
Aspergillus niger/patogenicidade , Micoses/microbiologia , Rinite/microbiologia , Schizophyllum/patogenicidade , Sinusite/microbiologia , Antifúngicos/uso terapêutico , Aspergillus niger/isolamento & purificação , Terapia Combinada , Endoscopia , Feminino , Humanos , Pessoa de Meia-Idade , Micoses/diagnóstico por imagem , Micoses/tratamento farmacológico , Micoses/cirurgia , Rinite/diagnóstico por imagem , Rinite/tratamento farmacológico , Rinite/cirurgia , Schizophyllum/isolamento & purificação , Sinusite/diagnóstico por imagem , Sinusite/tratamento farmacológico , Sinusite/cirurgia , Tomografia Computadorizada por Raios X
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