Óscar Dias

Contact endoscopy during microlaryngeal surgery : a new technique for endoscopic examination of the larynx

By means of a microcolpohysteroscope during microlaryngoscopy, the cells of superficial layers of the vocal cord epithelium, previously stained with methylene blue, were observed in vivo and in situ. Several parameters were evaluated: regularity of the epithelium, dimensions and color of the nucleus, nucleus-cytoplasm ratio, nucleus and cytoplasm contours, and presence of the nucleolus, mitosis, cytoplasmic inclusions, keratosis, and koilocytes, among others. The normal squamous epithelium of the vocal cord has a homogeneous cell arrangement, with a spheroid and isochromic nucleus, and a uniform nucleus-cytoplasm ratio. Specific cellular epithelial patterns in different disorders were observed, namely, chronic laryngitis, keratosis, dysplasia, papilloma, and malignant tumor. The present study on contact endoscopy during microlaryngeal surgery reports our first results with this original technique, performed in 68 patients.

Contact Endoscopy of the Vocal Cord: Normal and Pathological Patterns

Contact endoscopy allows an in vivo and in situ study of the superficial layers of the vocal cord epithelium. This technique offers access to some characteristics of the epithelium cells: dimension and shape of the nuclei, nucleus/cytoplasm ratio, keratosis, presence of nucleolus, mitosis and koylocites. Contact endoscopy was performed during microlaryngoscopies in 92 patients with benign, pre-malign and malign pathology of the vocal cords. Systematic confrontation with pathological examination and laryngectomy specimens studied by histology and electron microscopy were used to improve the interpretation of contact endoscopy findings. Based on this correlation it has been possible to analyse the transition of the squamous and ciliated epithelium of the vocal cord as well as to delineate some pathological patterns, e.g. chronic laryngitis, keratosis, dysplasia, tumor and papilloma.

Contact Endoscopy of the Nasal Mucosa

The possibility of contact endoscopy in the nasal mucosa, using a contact microlaryngoscope is examined. With contact endoscopy it has been possible to visualize in vivo and in situ (60x, 150x) the superficial cell layers of the nasal epithelium, previously stained with methylene blue. Normal mucosa and cases with pathology (chronic rhinitis, nasal polyposis, inverted papilloma, mucormicosis and carcinoma) were assessed with contact endoscopy (50 patients). Squamous epithelium, ciliated epithelium, glandular ostia, mucus secretions, microvascular networks, inflammatory cell infiltrates, tissue inclusions, nuclear abnormalities, and fungal hyphae have been made visible. The potential of contact endoscopy in the nose, the alterations required in the contact endoscope and the intense interdisciplinary work needed are discussed. Evaluation and differentiation of stages of chronic mucosal diseases, nasal polyposis, environmental pathology, allergy, mucocilliary diseases, pharmacotherapy, are some of the entities that will benefit from this technique.

Endoscopic anatomy of the larynx

Rigid videoendoscopy performed during microlaryngoscopy allows exploration of regions that are difficult to observe. Higher magnifications improve the definition of lesion characteristics. Epithelial cells, which have been previously stained with methylene blue, can be identified with contact endoscopy during microlaryngoscopy. In this new phase of laryngeal endoscopic development, it is possible to perform in vivo and in situ studies of the cells, nucleus, cytoplasm, and microvascular networks.

A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation in the homoplasmic form. To our knowledge, this is the fifth family in whom inherited NEPPK and hearing loss are related to this mitochondrial mutation.

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients

Abstract Objective: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 264 Portuguese NSSHL patients. Results: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. Conclusions: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family.

Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family Helena Sim~oes-Teixeira, Tiago D. Matos, Marta Canas Marques, Óscar Dias, M ario Andrea, Eduardo Barreiros, Lu ıs Barreiros, Felipe Moreno, Graça Fialho, Helena Caria, and Ignacio del Castillo* Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal Unidad de Gen etica Molecular, Hospital Universitario Ram on y Cajal, IRYCIS, Madrid, Spain ORL Service, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon, Portugal Centro de Investigaci on Biom edica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Higher School of Health, Polytechnic Institute of Set ubal, Set ubal, Portugal

Functional Voice Disorders: The Importance of the Psychologist in Clinical Voice Assessment

OBJECTIVES The etiopathogenesis of functional voice disorders (FVDs) is multifactorial. The purpose of this study was to analyze the severity of depression and anxiety, and the incidence of affective and anxiety disorders, in patients who presented different types of FVDs and were followed at the University Clinic of Otolaryngology. DESIGN This is a cross-sectional study. METHODS After ENT observation, 83 women were classified into three groups: psychogenic voice disorder (PVD = 39), primary muscle tension voice disorder (MTVD1 = 16), and secondary muscle tension voice disorder (MTVD2 = 28). A psychologist assessed the severity of depression and anxiety using the Hamilton rating scales, and screened for affective and anxiety disorders using the Mini International Neuropsychiatric Interview. RESULTS Significant differences in the mean values were found between the groups, with the MTVD1 group having higher levels of depression and anxiety. In affective disorders (current major depression and current mood disorder with psychotic symptoms) and in anxiety disorders (lifetime panic disorder, current generalized anxiety, and current panic disorder with agoraphobia), significant differences in association were found between groups. CONCLUSIONS Groups presented with significant differences in depression and anxiety levels, and in some psychiatric diagnoses. Patients with FVDs should be independently assessed regarding their voice disorder classification. The integration of a psychologist in the clinical voice assessment team is essential, as findings have corroborated an important incidence of psychiatric disorders in FVDs patients.

Cogan's Syndrome: ARetrospective Study of 22 Years

Introduction: Cogan’s syndrome (CS) is a rare clinical entity, of presumptive autoimmune etiology, typically characterized by a non-syphilitic interstitial keratitis (IK) associated with a Meniere-like vestibuloauditory dysfunction. Objective: Since only few cases have been published to current date and considering the variable presentation, clinical course and absence of specific diagnostic tests, we aim to potentially bring further insight for diagnosis and management. Materials and Methods: We conducted a retrospective study of all cases of CS followed at the Department of Otorhinolaryngology, Voice and Communication Disorders in Santa Maria Hospital, Lisbon, from 1992 to 2013. Patient’s demographics, otolaryngologic, ophthalmologic and systemic manifestations, presenting symptoms, audiovestibular and laboratory testing, imaging assessment, performed treatment, disease course and hearing outcomes were analyzed. Results: We review a group of six patients, two with typical and four with atypical CS. Five patients evolved to profound hearing loss, bilateral in two cases. No patient had permanent visual deficit. The Erythrocyte Sedimentation Rate (ESR) increase was the most consistent laboratory finding. Only one patient had positive anti- Heat Shock Protein (HSP) 70 antibodies. All patients were treated with corticosteroids. Methotrexate was associated in three, with some hearing loss stabilization. Three patients underwent cochlear implantation. Discussion and Conclusions: In our series, morbidity was mainly related to the vestibuloauditory dysfunction. In implanted patients, there was a significant improvement of hearing function. We highlight the need of a multidisciplinary approach to this pathology for better therapeutic outcomes and quality of life.

Pediatric Periorbital Infections: 5-Year Retrospective Study

Objective: Periorbital infections in the pediatric population are a common situation in hospital emergency care that can lead to visual loss, intracranial infection, or even death. We evaluated presentations and outcomes of pediatric periorbital cellulitis in order to understand different etiologies and stratifying risk populations that need different diagnostic and treatment approaches. Method: We retrospectively reviewed the pediatric patients admitted at our institution with the diagnosis of periorbital cellulitis over a period of 5 years. They were classified in subgroups according to Chandler and cross-referenced in demographics, clinical features, co-morbidities, days of in-hospital staying, CT findings, and treatment modalities. Results: We identified 112 children with periorbital cellulitis, 63 pre-septal and 49 post-septal. There were statistically significant differences between the two groups in regard to age (P < .001) and history of trauma or skin infection (P < .001). Proptosis (P < .001), diplopia (P < .01) and ophthalmoplegia (P < .001) were more frequent in post-septal infections and surgical intervention was exclusive of this group. Subperiosteal abscess patients were significantly older (P < .05), and all of them had diagnosis of acute sinusitis (P < .05). Proptosis (P < .05), ophtalmoplegia (P < .05) and diplopia (P < .05) were also differentiating features of subperiosteal abscess. Conclusion: Pre-septal infections are more common in younger children. Older children with subperiosteal abscesses need surgical intervention more often. Proptosis, diplopia, and opfthamoplegia are significant identifying features of post-septal infections, particularly in surgical patients. Trauma or skin infections are relevant findings of pre-septal infections. Post-septal infections are mostly a complication of acute sinusitis.