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1.
Praxis (Bern 1994) ; 113(5): 119-123, 2024 May.
Artigo em Alemão | MEDLINE | ID: mdl-38864103

RESUMO

INTRODUCTION: Chronic rhinosinusitis is a prevalent condition with significant implications for both patients and society at large. The diagnostic and treatment approaches are primarily guided by the EPOS2020 guidelines in Europe, which increasingly delve into the molecular -mechanism of the disease and its resulting phenotypes. In recent years, biologics have emerged as a promising option, in particular for cases that are refractory to conventional therapies. However, the management landscape has become more intricate, necessitating consideration and potential concurrent treatment of comorbidities. Moreover, the utilization of biologics is accompanied by substantial costs, warranting personalized assessment for each patient. Hence, the establishment of specialized boards comprising clinicians from diverse disciplines to collaborate on treatment recommendations is imperative.


Assuntos
Rinite , Sinusite , Sinusite/diagnóstico , Sinusite/terapia , Rinite/diagnóstico , Rinite/terapia , Doença Crônica , Humanos , Colaboração Intersetorial , Comunicação Interdisciplinar , Produtos Biológicos/uso terapêutico , Rinossinusite
2.
Eur Arch Otorhinolaryngol ; 281(2): 711-718, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37542562

RESUMO

PURPOSE: In primary cholesteatoma patients, incus destruction with an intact and mobile stapes is a frequent finding. Different techniques have been described to restore the ossicular chain, including incus interposition, stapes augmentation and type III tympanoplasty. Controversy about postoperative hearing results in open versus closed surgical techniques exist. METHODS: We performed a retrospective analysis of clinical, surgical and audiometric data of patients with primary cholesteatoma surgery operated between 2010 and 2020, and a mobile stapes and one-stage ossicular reconstruction. Pre- and post-operative audiograms were compared for the different surgical groups, mainly focusing on postoperative air-bone gap. Mastoid pneumatization and ventilation was also considered. RESULTS: The mean postoperative air-bone gap (0.5-4 kHz) of the 126 included patients was 20 dB. Hearing after type III tympanoplasty (26 dB) was worse than incus interposition (19 dB) and stapes augmentation (20 dB). Hearing after an open (23 dB) versus closed (19 dB) surgical technique was significantly different. No improvement in air-bone gap was observed for the higher frequencies. CONCLUSION: A residual postoperative air-bone gap should be considered after primary cholesteatoma surgery with intact and mobile stapes. Incus interposition in closed cavity operation is the optimal situation, but open cavity surgery should not be avoided because of hearing. Extent of the disease is prioritized and poorer ventilation before and after surgery may affect postoperative hearing.


Assuntos
Colesteatoma da Orelha Média , Prótese Ossicular , Substituição Ossicular , Humanos , Estribo , Timpanoplastia/métodos , Bigorna/cirurgia , Estudos Retrospectivos , Colesteatoma da Orelha Média/complicações , Colesteatoma da Orelha Média/cirurgia , Resultado do Tratamento , Substituição Ossicular/métodos
3.
Artigo em Alemão | MEDLINE | ID: mdl-36648498

RESUMO

During the SARS-CoV­2 pandemic, various data had to be collected to support political decisions for pandemic preparedness and response. Nevertheless, using analogue tools like paper and pencil as well as sending files with media discontinuity that have to be merged later are not useful and can hardly provide usable data in real time. With the selected system architecture, the Bavarian Online Database for Corona Screening Tests (BayCoRei) is a central, Bavaria-wide, consistent digital solution that is agile and easy to use. BayCoRei uses established technical components and interfaces. Apart from this, the support of the individual stakeholders (e.g., health authorities, service providers, and district governments) plays a decisive role in the success of the solution. The present article describes BayCoRei and two other online databases as examples that comprise the technology and architecture that have proven to be (rapidly) deployable and points out the gap between intention and reality regarding pandemic management.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/epidemiologia , Pandemias/prevenção & controle , Alemanha
4.
Haematologica ; 106(8): 2170-2179, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34011137

RESUMO

The COVID-19 pandemic has resulted in significant morbidity and mortality worldwide. To prevent severe infection, mass COVID-19 vaccination campaigns with several vaccine types are currently underway. We report pathological and immunological findings in 8 patients who developed vaccine-induced immune thrombotic thrombocytopenia (VITT) after administration of SARS-CoV-2 vaccine ChAdOx1 nCoV-19. We analyzed patient material using enzyme immune assays, flow cytometry and heparin-induced platelet aggregation assay and performed autopsies on two fatal cases. Eight patients (5 female, 3 male) with a median age of 41.5 years (range, 24 to 53) were referred to us with suspected thrombotic complications 6 to 20 days after ChAdOx1 nCoV-19 vaccination. All patients had thrombocytopenia at admission. Patients had a median platelet count of 46.5 x109/L (range, 8 to 92). Three had a fatal outcome and 5 were successfully treated. Autopsies showed arterial and venous thromboses in various organs and the occlusion of glomerular capillaries by hyaline thrombi. Sera from VITT patients contain high titer antibodies against platelet factor 4 (PF4) (OD 2.59±0.64). PF4 antibodies in VITT patients induced significant increase in procoagulant markers (P-selectin and phosphatidylserine externalization) compared to healthy volunteers and healthy vaccinated volunteers. The generation of procoagulant platelets was PF4 and heparin dependent. We demonstrate the contribution of antibody-mediated platelet activation in the pathogenesis of VITT.


Assuntos
COVID-19 , Trombocitopenia , Adulto , Autoanticorpos , Plaquetas , Vacinas contra COVID-19 , ChAdOx1 nCoV-19 , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2 , Trombocitopenia/induzido quimicamente , Vacinação/efeitos adversos , Adulto Jovem
6.
Eur Arch Otorhinolaryngol ; 278(5): 1455-1461, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33090277

RESUMO

OBJECTIVES: An increasing proportion of patients who are candidates for endoscopic sinus surgery can be treated as an outpatient. A preoperative risk assessment is needed to evaluate eligibility for day surgery. This study analyses the effectiveness of a risk assessment scoring system which examines medical, procedure-related, and socioeconomic factors. DESIGN: Prospective multicenter study. SETTING: Three center study including Klinik Hirslanden, Zurich, Switzerland, Luzerner Kantonsspital, Lucerne, Switzerland and HNO-Klinik München-Bogenhausen, Munich, Germany. PARTICIPANTS: Patients with endoscopic sinus procedures between January 1st, 2017 and December 31st, 2018. MAIN OUTCOME MEASURES: The "day surgery risk score" consisted of three subgroups with medical, procedure-related and socioeconomic risk factors were assessed to determine if these predicted the severity of postoperative complications. RESULTS: Three-hundred and one patients who underwent endoscopic sinus surgery were included. The score resulted in a median value of 5 [5, 5]. In the Receiver-Operating Curve (ROC-the true-positive rate against the false-positive rate), the Area Under the Curve (AUC) was 0.59 with 95% confidence interval from 0.49 to 0.69, indicating that the "day surgery risk score" may be no better at predicting the likelihood of a complication than a random classification model. CONCLUSIONS: The "day surgery risk score" is a straightforward risk assessment which combines medical, procedure-related, and socioeconomic factors. The score is easy to use but in trying to decide whether a patient is eligible for ambulatory endoscopic sinus surgery it did not predict whether a complication was more likely to occur.


Assuntos
Procedimentos Cirúrgicos Ambulatórios , Complicações Pós-Operatórias , Alemanha/epidemiologia , Humanos , Estudos Prospectivos , Curva ROC , Medição de Risco , Fatores de Risco , Suíça/epidemiologia
7.
Artigo em Chinês | MEDLINE | ID: mdl-32306629

RESUMO

Objective: To compare the effectiveness of primary malleostapedotomy with revision malleostapedotomy for otosclerosis. Methods: From April 2002 to December 2017, 70 consecutive patients with otosclerosis who underwent malleostapedotomy were reviewed. Depending on the primary malleostapedotomy (P-MS) or revision malleostapedotomy (R-MS), the patients were divided into P-MS group or R-MS group.The intraoperative findings and hearing results before and after surgery were compared between the two groups. ALL data were analyzed using SPSS 23. Results: Totally 73 malleostapedotomy were performed in 73 ears of 70 patients, including 38 P-MS and 35 R-MS. There was no significant difference between the two groups in sex ratio, age and operated ears (P>0.05 for all). The most common finding at P-MS was incus fixation (50.0%, 19/38) versus prosthesis displacement for R-MS (60.0%, 21/35) . Overall, the air-bone gap (ABG) improvement in P-MS were (18.1±8.2) dB in 0.5-3 kHz and (18.3±8.5) dB in 0.5-4 kHz, without significant difference to those in R-MS (P>0.05) . 31.4% of R-MS in 0.5-3 kHz and 22.9% R-MS in 0.5-4 kHz achieved an ABG<10 dB, significantly lower than those of P-MS (65.8% in 0.5-3 kHz and 57.9% in 0.5-4kHz; P<0.05). Failure (postoperative ABG>30 dB) occurred in 11.4% in R-MS and 0 in P-MS (for 0.5-3 kHz and 0.5-4 kHz). The incidence of postoperative sensorineural hearing loss (>10 dB increase in bone conduct) in R-MS group was 8.6% in 0.5-3 kHz and 0.5-4 kHz, without significant difference to those in P-MS (P>0.05) . 80.0% (20/25) of first R-MS achieved ABG<20 dB, compared to 37.5% (3/8) of second R-MS with ABG<20 dB. Conclusions: Although both P-MS and R-MS can significantly improve hearing, with similar risk of inner ear damage, R-MS is less effective and poses a higher risk of failure than P-MS. For patients with insufficient hearing improvement after first R-MS, conventional hearing aids or implantable hearing devices may be considered as an alternative.


Assuntos
Martelo/cirurgia , Otosclerose/cirurgia , Cirurgia do Estribo/métodos , Condução Óssea , Humanos , Bigorna , Estudos Retrospectivos , Resultado do Tratamento
8.
Eur Arch Otorhinolaryngol ; 274(9): 3303-3310, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28601902

RESUMO

This study aimed to evaluate the benefit but also the extrusions, dislocations, and failures of a titanium incus prosthesis along with the long-term audiological outcomes. We prospectively collected data from 139 patients undergoing ossiculoplasty using the Fisch titanium incus prosthesis between 2001 and 2016. Overall, 126 patients with at least 6 months of follow-up (mean 4.5 years, range 6-155 months) were analyzed. Patients were grouped as "extrusion" (n = 9, 7%) if the prosthesis extruded, "failure" (n = 22, 18%) if a reoperation was needed concerning the prosthesis, and "stable" (n = 95, 75%) if the prosthesis remained functional in the middle ear. Mean postoperative air bone gaps (ABG) for 0.5-3 kHz for the overall group and the stable group were 19.8 (±11.9) and 15.3 (±7.5), respectively. Long-term results of stable group revealed an ABG (0.5-3 kHz) below 10 dB in 25% and below 20 dB in 81% of the patients. Atelectasis was the most frequent cause of extrusion, which occurred after a mean time of 28.7 months (range 15-48 months). Mean timing for reoperation was 30.7 months (range 5-131 months) in the failure group. There was no significant difference in mean postoperative ABG among patients with or without cholesteatoma, primary or staged ossiculoplasty in cholesteatoma, presence or absence of malleus head at the time of ossiculoplasty, open or closed cavity surgeries, or the degree of pneumatization of the temporal bone. The Fisch titanium incus prosthesis is a reliable alternative to using autologous incus for interposition ossiculoplasty, with similar hearing outcomes. Using this prosthesis, a 15 dB ABG should be expected.


Assuntos
Otopatias/cirurgia , Bigorna/cirurgia , Prótese Ossicular , Substituição Ossicular/instrumentação , Titânio , Adolescente , Adulto , Idoso , Criança , Otopatias/diagnóstico , Otopatias/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Substituição Ossicular/efeitos adversos , Substituição Ossicular/métodos , Falha de Prótese , Reoperação , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
9.
Am J Rhinol Allergy ; 31(3): 190-195, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28490406

RESUMO

BACKGROUND: Septal perforation closure is still often invasive and complex, with relatively low closure rates. OBJECTIVES: We aimed to provide the first results of a case series of 20 patients with nasal septal perforations who underwent septal perforation repair by both an open and a minimally invasive technique by using a graft that consisted of temporoparietal fascia and a polydioxanone (PDS) plate without mucosal flaps. Between 2014 and 2016, we tested, for the first time, the feasibility of the insertion of this graft via a hemitransfixion incision at our institution. The rationale for the closed approach was to avoid any visible nasal scars. We reported our results of both approaches. METHODS: The septal perforations were closed by insertion of a graft, which consisted of a 0.25-mm PDS flexible plate enveloped by temporoparietal fascia, into the perforation. The insertion of the graft was performed either via a columellar incision (open approach) or via a cosmetically advantageous hemitransfixion incision (closed approach) in an underlay technique. No attempts were made to close the perforation by mucosal flap rotation and/or advancement. Protective silastic sheeting to both sides of the perforation provided fixation to the graft while natural mucosal healing occurred over the perforation in the course of 3 to 8 weeks. RESULTS: Eighteen of 20 perforations were closed by mucosa at the last follow-up. The mean follow-up was 8.7 months. Thirteen patients had surgery via the closed approach. CONCLUSION: We showed, for the first time, that the insertion of a graft that consisted of a PDS flexible plate enveloped in temporoparietal fascia via a hemitransfixion incision was feasible and resulted in complete mucosal closure of nasal septal perforations in most patients. By performing the hemitransfixion incision, we avoided any visible nasal scars.


Assuntos
Cicatriz/prevenção & controle , Fáscia/transplante , Mucosa Nasal/cirurgia , Perfuração do Septo Nasal/cirurgia , Procedimentos de Cirurgia Plástica , Complicações Pós-Operatórias/prevenção & controle , Adolescente , Adulto , Cicatriz/etiologia , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Polidioxanona , Adulto Jovem
10.
Otol Neurotol ; 38(6): 900-903, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28419064

RESUMO

OBJECTIVE: Identification of the causative mutation using next-generation sequencing in autosomal-dominant hereditary hearing impairment, as mutation analysis in hereditary hearing impairment by classic genetic methods, is hindered by the high heterogeneity of the disease. PATIENTS: Two Swiss families with autosomal-dominant hereditary hearing impairment. INTERVENTION: Amplified DNA libraries for next-generation sequencing were constructed from extracted genomic DNA, derived from peripheral blood, and enriched by a custom-made sequence capture library. Validated, pooled libraries were sequenced on an Illumina MiSeq instrument, 300 cycles and paired-end sequencing. Technical data analysis was performed with SeqMonk, variant analysis with GeneTalk or VariantStudio. The detection of mutations in genes related to hearing loss by next-generation sequencing was subsequently confirmed using specific polymerase-chain-reaction and Sanger sequencing. MAIN OUTCOME MEASURE: Mutation detection in hearing-loss-related genes. RESULTS: The first family harbored the mutation c.5383+5delGTGA in the TECTA-gene. In the second family, a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1-gene and a second mutation TCOF1-c.1028G>A were identified. CONCLUSION: Next-generation sequencing successfully identified the causative mutation in families with autosomal-dominant hereditary hearing impairment. The results helped to clarify the pathogenic role of a known mutation and led to the detection of a novel one. NGS represents a feasible approach with great potential future in the diagnostics of hereditary hearing impairment, even in smaller labs.


Assuntos
Análise Mutacional de DNA/métodos , Perda Auditiva Neurossensorial/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Feminino , Perda Auditiva/genética , Humanos , Masculino , Mutação , Linhagem
11.
Otol Neurotol ; 35(3): 437-41, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24492140

RESUMO

OBJECTIVE: In 2009, we had introduced the active middle ear implant (aMEI) round window coupling in patients undergoing a subtotal petrosectomy and reported our first results. In the current study, we evaluated the long-term firmness of the vibranting floating mass transducer (FMT) within the round window niche, the long-term audiologic results and the patient's perspective of wearing the speech processor over time. PATIENTS AND INTERVENTION: Of 10 patients, 6 female and 1 male patients (age range from 30 to 71 yr) had undergone subtotal petrosectomy with aMEI round window vibroplasty and were available for a long-term follow-up. Indications were recurrent or chronic ear infections with preserved inner ear function and inability for ossicular chain reconstruction. A thin piece of fascia was placed between the FMT and the round window membrane once the round window niche had been enlarged by drilling. The operative cavity was filled with fat and a muscle flap in all cases. MAIN OUTCOME MEASURES: Audiologic evaluations included pre- and postoperative pure-tone audiometry, Freiburger syllable and numeric tests. All patients underwent preoperative computed tomographic (CT) scans and magnetic resonance imaging (MRI) examination. Postoperative follow-up included CT scans at 1 and preferentially 3 to 5 years to confirm the correct positioning of the FMT and the complete removal of the underlaying pathology. Subjective benefit was rated by the Glasgow Hearing Aid Benefit Profile. RESULTS: There were no immediate postoperative complications. CT scans confirmed the correct and durable positioning of the FMT. Audiometric tests revealed a stable and adequate functional gain in all patients with limited adjustments over time. Subjective rating reached a high satisfaction score, and all patients remained long-term implant users. One patient developed a skin necrosis over the implant because of excessive pressure exerted by the retaining magnet of the headpiece. Revision was performed using local skin flaps with preservation of the functioning implant. CONCLUSION: Our radiologic, audiometric, and subjective data show stable long-term results of round window vibroplasty in patients undergoing subtotal petrosectomy, and we continue to recommend this treatment option instead of another mastoid revision procedure.


Assuntos
Orelha Média/cirurgia , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Prótese Ossicular , Substituição Ossicular , Osso Petroso/cirurgia , Adulto , Idoso , Audiometria de Tons Puros , Limiar Auditivo/fisiologia , Feminino , Seguimentos , Perda Auditiva Condutiva-Neurossensorial Mista/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otológicos , Satisfação do Paciente , Janela da Cóclea/fisiopatologia , Janela da Cóclea/cirurgia , Resultado do Tratamento
12.
J Magn Reson ; 213(1): 158-65, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22015248

RESUMO

The complex [Fe(H2O)6]SiF6 is one of the most stable and best characterized high-spin Fe(II) salts and as such, is a paradigm for the study of this important transition metal ion. We describe high-frequency and -field electron paramagnetic resonance studies of both pure [Fe(H2O)6]SiF6 and [Zn(H2O)6]SiF6 doped with 8% of Fe(II). In addition, frequency domain magnetic resonance spectroscopy was applied to these samples. High signal-to-noise, high resolution spectra were recorded which allowed an accurate determination of spin Hamiltonian parameters for Fe(II) in each of these two, related, environments. For pure [Fe(H2O)6]SiF6, the following parameters were obtained: D=+11.95(1) cm(-1), E=0.658(4) cm(-1), g=[2.099(4),2.151(5),1.997(3)], along with fourth-order zero-field splitting parameters: B4(0)=17(1)×10(-4) cm(-1) and B4(4)=18(4)×10(-4) cm(-1), which are rarely obtainable by any technique. For the doped complex, D=+13.42(1) cm(-1), E=0.05(1) cm(-1), g=[2.25(1),2.22(1),2.23(1)]. These parameters are in good agreement with those obtained using other techniques. Ligand-field theory was used to analyze the electronic absorption data for [Fe(H2O)6]SiF6 and suggests that the ground state is 5A1, which allows successful use of a spin Hamiltonian model. Density functional theory and unrestricted Hartree-Fock calculations were performed which, in the case of latter, reproduced the spin Hamiltonian parameters very well for the doped complex.


Assuntos
Espectroscopia de Ressonância de Spin Eletrônica/métodos , Compostos Ferrosos/química , Fluoretos/química , Silicatos/química , Ácido Silícico/química , Algoritmos , Cristalização , Interpretação Estatística de Dados , Ferro/química , Teoria Quântica , Espectrofotometria Ultravioleta , Espectroscopia de Luz Próxima ao Infravermelho
13.
Chemistry ; 16(33): 10178-85, 2010 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-20623728

RESUMO

Two novel tetranuclear, star-shaped iron(III) clusters, [Fe(4)(acac)(6)(Br-mp)(2)] and [Fe(III) (4)(acac)(6)(tmp)(2)], are described. Both have S=5 ground states resulting from antiferromagnetic nearest-neighbour superexchange interactions, with J=-8.2 cm(-1) and J=-8.5 cm(-1) for 1 and 2, respectively. Energy barriers for the relaxation of the magnetisation of approximately 12 cm(-1) were derived from AC susceptibility measurements. Magnetic resonance measurements revealed a zero-field splitting parameter D=-0.34 cm(-1) for both complexes. AC susceptibility measurements in solution demonstrated that the complexes are reasonably stable in solution. Interestingly, the magnetisation relaxation slows down significantly in frozen solution, in contrast to what is generally observed for single-molecule magnets. This was shown to result from a large increase in tau(0), the prefactor in the Arrhenius equation, with the energy barrier remaining unchanged.

14.
Otol Neurotol ; 30(1): 41-7, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18849883

RESUMO

OBJECTIVE: The functional outcome of ossiculoplasties in chronic ear and lateral cranium base surgery depends on the presence of a ventilated middle ear space and is guided by the existence or absence of ossicular remnants. In patients with poorly ventilated middle ears, after multiple previous operations, missing stapes suprastructure, or after partial temporal bone resection for tumor removal, restoration of conductive hearing is not possible. The direct placement of a vibrating floating mass transducer (FMT) onto the round window membrane with obliteration of the surgical cavity is a new option. PATIENTS AND INTERVENTION: Starting in January 2006, five patients underwent a subtotal petrosectomy to control their chronically discharging ear, to remove residual cholesteatoma, or to revise previous incompletely exenterated cavities. Four patients underwent a simultaneous placement of a Vibrant Soundbridge (VSB) onto the round window membrane; one patient had a staged reconstruction after initial Bone-Anchored Hearing Aid rehabilitation. In all operations, the external ear canal and the eustachian tube were closed, and the cavity was obliterated using abdominal fat. MAIN OUTCOME MEASURES: Preoperative and postoperative pure tone audiograms were analyzed in respect to deterioration of inner ear function, aided and unaided (hearing aid, VSB, and Bone-Anchored Hearing Aid) speech audiograms were compared to verify improvements in communication skills, functional gains were calculated at comfortable level settings, and postoperative computed tomographic scans were used to exclude recurrent disease and to confirm the position of the FMT onto the round window membrane. Patient's satisfaction was measured using a standardized questionnaire. RESULTS: All patients were very satisfied daily users of their middle ear implant and had complete eradication of their middle ear pathology. Bone conduction worsened at 2 kHz, with preservation of inner ear function in the other frequencies. Whereas none of the patients had any unaided speech discrimination before the surgery at conversational levels, all patients obtained 95 to 100% correct monosyllabic scores at 70 to 80 dB using the VSB. The functional gain was highest at higher frequencies. CONCLUSION: Patients with combined hearing loss undergoing subtotal petrosectomy with complete fat obliteration of the middle ear and mastoid area can be safely rehabilitated, placing the FMT of a VSB onto the round window membrane, either at the time of primary surgery, or as a staged secondary procedure.


Assuntos
Prótese Ossicular , Osso Petroso/cirurgia , Idoso , Audiometria , Carcinoma/tratamento farmacológico , Carcinoma/radioterapia , Implante Coclear/métodos , Orelha Externa/cirurgia , Orelha Média/anormalidades , Feminino , Granuloma/cirurgia , Auxiliares de Audição , Humanos , Masculino , Processo Mastoide/anormalidades , Mastoidite/diagnóstico , Mastoidite/cirurgia , Pessoa de Meia-Idade , Neoplasias Nasofaríngeas/tratamento farmacológico , Neoplasias Nasofaríngeas/radioterapia , Procedimentos Cirúrgicos Otológicos/instrumentação
15.
Chemistry ; 14(35): 11158-66, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18972463

RESUMO

A highly asymmetric Ni(II) cluster [Ni(4)(OH)(OMe)(3)(Hphpz)(4)(MeOH)(3)](MeOH) (1) (H(2)phpz=3-methyl-5-(2-hydroxyphenyl)pyrazole) has been prepared and its structure determined by means of single-crystal X-ray diffraction by using synchrotron radiation. Variable-temperature bulk-magnetization measurements show that the complex exhibits intramolecular-ferromagnetic interactions leading to a spin ground state S=4 with close-lying excited states. Magnetization and high-frequency EPR measurements suggest the presence of sizable Ising-type magnetic anisotropy, with zero-field splitting parameters D=-0.263 cm(-1) and E=0.04 cm(-1) for the spin ground state, and an isotropic g value of 2.25. The presence of both axial and transverse anisotropy was confirmed through low-temperature specific heat determinations down to 300 mK, but no slow relaxation of the magnetization was observed by AC measurements down to 1.8 K. Interestingly, AC susceptibility measurements down to temperatures as low as 23 mK showed no indication of slow relaxation of the magnetization in 1. Thus, despite the presence of an anisotropy barrier (U approximately 4.21 cm(-1) for the purely axial limit), the magnetization relaxation remains extremely fast down to the lowest temperatures. The estimated quantum tunneling rate, Gamma>0.667 MHz, makes this complex a prime candidate for observation of coherent tunneling of the magnetization.

16.
J Mol Med (Berl) ; 83(7): 553-60, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15912360

RESUMO

Although hereditary hearing loss is highly heterogeneous, only a few loci have been implicated with low-frequency hearing loss. Mutations in one single gene, Wolfram syndrome 1 (WFS1), have been reported to account for most familial cases with this type of hearing impairment. This study was conducted to determine the cause of nonsyndromic low-frequency hereditary hearing impairment in two large families. Two large families from Switzerland and United States with low-frequency hearing loss were identified. Genomewide linkage analysis was performed followed by mutation screening in the candidate gene WFS1 with direct DNA sequencing and restriction fragment analysis. Both families were linked to DFNA6/14/38 with lod scores>3. Two novel heterozygous missense mutations in WFS1 were identified: c.2311G>C leading to p.D771H in the Swiss family and c.2576G>C leading to p.R859P in the US family. The sequence alteration was absent in 100 control chromosomes. Nonsyndromic low-frequency hereditary hearing impairment seems to be predominantly a monogenic disorder due to WFS1. We confirm that most mutations in WFS1 associated with isolated low-frequency hearing loss are clustered in the C-terminal protein domain coded by exon 8.


Assuntos
Perda Auditiva/genética , Perda Auditiva/fisiopatologia , Proteínas de Membrana/genética , Mutação/genética , Adulto , Idoso , Alelos , Sequência de Bases , Criança , Análise Mutacional de DNA , Feminino , Ligação Genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Suíça , Utah
17.
J Mol Med (Berl) ; 82(11): 775-80, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15490091

RESUMO

Nonsyndromic hereditary hearing impairment (NSHHI) is a highly heterogeneous disorder with more than 90 loci mapped, of which nearly one-half of the responsible genes are identified. In dominant NSSHI hearing loss is typically biased towards the high frequencies while low-frequency hearing loss is unusual. Only two NSHHI loci, DFNA1 and DFNA6/14/38, are associated with predominantly low-frequency loss. We mapped the loci harboring the gene responsible for autosomal dominant low-frequency hearing loss in a multigenerational family. The pedigree of a Swiss family with low-frequency hearing loss was established. Using genomic DNA, DFNA1 and DFNA6/14/38 were excluded by linkage analysis or by direct sequencing of the responsible gene. Genome-wide linkage analysis was performed using commercially available microsatellite markers. Two-point linkage analysis demonstrated linkage to chromosome 5q31, the locus for DFNA15, with a lod score of 6.32 at recombination fraction theta=0 for marker D5S436. Critical recombinations were seen at markers D5S1972 and D5S410. Sequencing of the corresponding gene POU4F3 yielded no pathogenic mutation segregating with the affected members. In addition to Wolfram syndrome gene 1 (DFNA6/14/38) and diaphanous (DFNA1) there is evidence for a third gene involved in low-frequency hearing loss located at DFNA15. Because of the differences in auditory phenotype and the absence of pathogenic mutation in the coding region of POU4F3 it is likely that there is a second gene in 5q31, designated DFNA54, associated with NSHHI.


Assuntos
Perda Auditiva/genética , Proteínas/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Feminino , Ligação Genética , Marcadores Genéticos , Perda Auditiva/fisiopatologia , Proteínas de Homeodomínio/genética , Humanos , Masculino , Linhagem , Análise de Sequência de DNA , Deleção de Sequência , Fator de Transcrição Brn-3C , Fatores de Transcrição/genética
18.
J Craniomaxillofac Surg ; 32(2): 80-4, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-14980586

RESUMO

INTRODUCTION: Laryngotracheal injuries are uncommon with an estimated incidence of 1 per thousand (1-6 patients per 15000-42500 trauma victims). They may be associated with fractures of the facial skeleton. Their symptoms are variable ranging from obvious airway obstruction to minor or almost missing symptoms. Early diagnosis and proper initial management may sometimes be difficult or delayed. PATIENTS: Three patients with maxillofacial fractures and concomitant laryngotracheal injuries are presented. The diagnostic procedures used and the management of these injuries are reported. DISCUSSION AND CONCLUSION: Due to their low incidence and their hidden nature laryngotracheal injuries may pose diagnostic problems, especially in polytraumatized or intubated patients. Subcutaneous emphysema is the chief clinical sign. Fibreoptic endoscopy is the most important and informative diagnostic examination. Radiographic evaluation by CT scan provides additional information about the extent of the injury and the indication for surgery. A coordinated team approach is necessary for proper management of these injuries.


Assuntos
Laringe/lesões , Fraturas Mandibulares/complicações , Fraturas Maxilares/complicações , Traqueia/lesões , Adulto , Diagnóstico Precoce , Enfisema/diagnóstico , Feminino , Humanos , Laringoscopia , Masculino , Enfisema Mediastínico/diagnóstico , Ruptura , Cartilagem Tireóidea/lesões , Traqueotomia , Prega Vocal/lesões
19.
Paediatr Anaesth ; 13(1): 68-71, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12535043

RESUMO

A congenital laryngotracheo-oesophageal cleft is a rare airway malformation which results from incomplete separation of the larynx and trachea from the hypopharynx and oesophagus. Patients usually present with stridor, aspiration and cyanosis associated with feeding. For early diagnosis, a high index of suspicion is needed. Unless an appropriate diagnostic approach is taken, the diagnosis can be missed. The successful ventilation of a neonate with the Laryngeal Mask Airway is described.


Assuntos
Esôfago/anormalidades , Máscaras Laríngeas , Laringe/anormalidades , Traqueia/anormalidades , Feminino , Humanos , Recém-Nascido
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