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- An alternative explanation of the origin of the signal in diffusion-weighted MRIPublication . Branco, GI formulated an alternative explanation for the origin of the signal in diffusion-weighted MRI (DWI) and tested it in a simple experimental model using gelatin. My findings indicate that the signal in DWI is influenced by the passage of water from the sol to the gel state, independently of the presence of cell structures or membrane-dependent diffusion.
- Anomalia Congénita Coclear: Tentativa de Relação Embriológica e Anátomo-FuncionalPublication . Maurício, JC; Biscoito, L; Branco, GIn this review of cochlear malformations, 17 cases were studied by CT scan (high resolution-target program) including 10 males and 7 females. The anomaly was bilateral in 12 cases and unilateral in 7 (the latter included 2 Mondini type aplasias and one Michel). The cochlear malformation (whose most frequent expression was the cochlear hypoplasia with 1 or 1 1/2 spires-65% of the cases) was associated to semicircular canals and/or vestibular aqueduct anomaly in 82% of the patients; it was exclusively of the anterior labyrinth in 18% of the cases. A middle ear malformation coexisted in 29%: in 3 cases with malleoincudal dysmorphy only and with tympanic aplasia in 2 others. These cochlear anomalies with CT expression were discussed considering the embryology, in view of a possible gestational dating, moreover relating to the hipocusia type: perceptive or combined.
- Anquilose Estapedo-Vestibular: Estudo Retrospetivo de Cinco Casos em São Tomé e PríncipePublication . Campelo, P; Caroça, C; Tinoco, C; Oliveira e Carmo, D; Paço, JIntroduction: Otosclerosis is a common form of conductive hearing loss characterized by abnormal bone remodeling exclusively in the otic capsule. The prevalence of otosclerosis varies in racial populations and is described as being rare in black African populations. In this paper we aim to report five cases of clinical, and surgically confirmed, otosclerosis in black individuals, in São Tomé and Príncipe. Material and Methods: Since February 2011, Ear, Nose and Throat consultations and surgeries specialty have been carried out at Dr. Ayres de Menezes Hospital in cooperation with the project ‘Health for all’. A retrospective analysis was undertaken of the records of all patients subjected either to stapedectomy or partial stapedectomy until February 2014. Information regarding clinical presentation, audiometric data and surgery reports was recorded. Results: Five adult patients underwent stapedectomy or partial stapedectomy. All of them presented with normal otoscopy, conductive or mixed hearing loss on audiogram and normal tympanometry with absent stapedial reflexes. None of the patients had signs of infection or history of head trauma. Three cases showed improvement in the air-bone gap after surgery. The other two were lost to follow-up. Discussion: We documented and surgically confirmed five cases of clinical otosclerosis in this population. A thematic review was carried out and concluded that, despite being described as a rare event in this race, available literature on this topic is not enough to state that there is lower prevalence of otosclerosis amongst the African population. Conclusion: Even if not common, otosclerosis cannot be disregarded as a possible cause for conductive hearing loss among the population of São Tomé and Principe.
- Biomarkers of Presbycusis and Tinnitus in a Portuguese Older PopulationPublication . Haider, HF; Flook, M; Aparicio, M; Ribeiro, D; Antunes, M; Szczepek, AJ; Hoare, DJ; Fialho, G; Paço, JC; Caria, HIntroduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate metabotropic receptor 7 (GRM7) and N-acetyltransferase 2 (NAT2) are some of the genetic markers for presbycusis. Objectives: To explore patterns of hearing loss and the role of GRM7 and NAT2 as possible markers of presbycusis and tinnitus in a Portuguese population sample. Materials and Methods: Tonal and speech audiometry, tinnitus assessment, clinical interview, and DNA samples were obtained from patients aged from 55 to 75 with or without tinnitus. GRM7 analysis was performed by qPCR. Genotyping of single nucleotide polymorphisms (SNPs) in NAT2 was performed by PCR amplification followed by Sanger sequencing or by qPCR. Results: We screened samples from 78 individuals (33 men and 45 women). T allele at GRM7 gene was the most observed (60.3% T/T and 33.3% A/T). Individuals with a T/T genotype have a higher risk for ARHL and 33% lower risk for tinnitus, compared to individuals with A/A and A/T genotype, respectively. Being a slow acetylator (53%) was the most common NAT2 phenotype, more common in men (55.8%). Intermediate acetylator was the second most common phenotype (35.9%) also more frequent in men (82.6%). Noise exposed individuals and individuals with 'high frequency' hearing loss seem to have a higher risk for tinnitus. Our data suggests that allele AT of GRM7 can have a statistically significant influence toward the severity of tinnitus. Conclusion: For each increasing year of age the chance of HL increases by 9%. The risk for ARHL was not significantly associated with GRM7 neither NAT2. However, we cannot conclude from our data whether the presence of T allele at GRM7 increases the odds for ARHL or whether the A allele has a protective effect. Genotype A/T at GRM7 could potentially be considered a biomarker of tinnitus severity. This is the first study evaluating the effect of GRM7 and NAT2 gene in tinnitus.
- Central Airway Stenosis: Opening the PathPublication . Guedes, F; Maurício, AC; Bugalho, A
- Cholangioscopy-guided holmium laser lithotripsy of a stone trapped in a mechanical lithotripterPublication . Libânio, D; Giestas, S; Martinez-Ares, D; Canena, J; Lopes, L
- COPD control: Can a consensus be found?Publication . Guimarães, M; Bugalho, A; Oliveira, AS; Moita, J; Marques, AThere are currently no reliable instruments for assessing the onset and progression of chronic obstructive pulmonary disease (COPD) or predicting its prognosis. Currently, a comprehensive assessment of COPD including several objective and subjective parameters is recommended. However, the lack of biomarkers precludes a correct assessment of COPD severity, which consequently hampers adequate therapeutic approaches and COPD control. In the absence of a definition of "well-controlled disease", a consensus regarding COPD control will be difficult to reach. However, COPD patient assessment should be multidimensional, and anchored in five points: control of symptoms, decline of pulmonary function, levels of physical activity, exacerbations, and Quality of Life. Several non-pharmacological and pharmacological measures are currently available to achieve disease control. Smoking cessation, vaccination, exercise training programs and pulmonary rehabilitation are recognized as important non-pharmacological measures but bronchodilators are the pivotal therapy in the control of COPD. This paper discusses several objective and subjective parameters that may bridge the gap between disease assessment and disease control. The authors conclude that, at present, it is not possible to reach a consensus regarding COPD control, essentially due to the lack of objective instruments to measure it. Some recommendations are set forth, but true COPD control awaits further objective assessments.
- Cryobiopsy in the diagnosis of idiopathic pulmonary hemosiderosis: a case reportPublication . Kania, A; Misiaszek, M; Vašáková, M; Szlubowski, A; Bugalho, A; Pankowski, J; Szołkowska, M; Roden, AC; Celejewska-Wójcik, N; Nastałek, P; Gnass, M; Sładek, K
- Current-reported outcome domains in studies of adults with a focus on the treatment of tinnitus: protocol for a systematic review.Publication . Hall, DA; Szczepek, AJ; Kennedy, V; Haider, HINTRODUCTION: In Europe alone, over 70 million people experience tinnitus. Despite its considerable socioeconomic relevance, progress in developing successful treatments has been limited. Clinical effectiveness is judged according to change in primary outcome measures, but because tinnitus is a subjective condition, the definition of outcomes is challenging and it remains unclear which distinct aspects of tinnitus (ie, 'domains') are most relevant for assessment. The development of a minimum outcome reporting standard would go a long way towards addressing these problems. In 2006, a consensus meeting recommended using 1 of 4 questionnaires for tinnitus severity as an outcome in clinical trials, in part because of availability in different language translations. Our initiative takes an approach motivated by clinimetrics, first by determining what to measure before seeking to determine how to measure it. Agreeing on the domains that contribute to tinnitus severity (ie, 'what') is the first step towards achieving a minimum outcome reporting standard for tinnitus that has been reached via a methodologically rigorous and transparent process. METHODS AND ANALYSIS: Deciding what should be the core set of outcomes requires a great deal of discussion and so lends itself well to international effort. This protocol lays out the first-step methodology in defining a Core Domain Set for clinical trials of tinnitus by establishing existing knowledge and practice with respect to which outcome domains have been measured and which instruments used in recent registered and published clinical trials. ETHICS AND DISSEMINATION: No ethical issues are foreseen. Findings will be reported at national and international ear, nose and throat (ENT) and audiology conferences and in a peer-reviewed journal, using PRISMA (Preferred Reporting Items for Systematic reviews and Meta-analysis) guidelines. TRIAL REGISTRATION NUMBER: The systematic review protocol is registered on PROSPERO (International Prospective Register of Systematic Reviews): CRD42015017525.
- Determinants associated with uncontrolled asthma in Portugal: A national population-based studyPublication . Camarinha, C; Fernandes, M; Alarcão, V; Franco, J; Manaças, M E; Bárbara, C; Nicola, P JIntroduction and objectives: Asthma is a chronic and heterogeneous disease that affects people of all ages and has a high estimated increase in prevalence worldwide. Asthma control represents a main goal in the disease management. International studies revealed low levels of disease control resulting in a significant burden for healthcare systems, not only in terms of quality of life, but also in terms of health costs. Modifiable and non-modifiable factors have been identified as relating to poor asthma control level. In this study we evaluated the distribution of asthma control levels in Portuguese adult population and examine the determinants associated with uncontrolled asthma. Materials and methods: Using a similar methodology to the one employed in the Asthma Insights and Reality in Europe (AIRE) survey, 327 active asthmatic patients were identified by random phone number and completed a questionnaire during 2011 to 2012. Asthma control was assessed by the evaluation of GINA based symptom control, by Asthma Control Test™ (ACT) and by self-perception of control. To examine the relationship between uncontrolled asthma and its determinants, univariate logistic regression analysis, sequential multivariable regression and population attributable risk percentage were determinate. Results: 35.2% active asthmatic patients had uncontrolled asthma, 64.8% partially controlled and none of the individuals had total control of asthma assessed by ACT test. Factors significantly associated with poor asthma control scores were: age (OR 1.02 per year of age; 95% CI: 1.01-1.03), female sex (OR 1.87; 95% CI: 1.15-3.04), educational level (OR 0.5; 95% CI: 0.28-0.89 at high school level or over), occupation (OR 4.92; 95% CI: 2.12-11.42 if looking for a first job or unemployed) (OR 2.51; 95% CI: 1.35-4.65 if being retired), income (OR 0.23; 95% CI: 0.07-0.72 if >619 euros), BMI (OR 1.09 per BMI unit; 95% CI: 1.03-1.14), having rhinitis symptoms (OR 4.40; 95% CI: 2.56-7.58) and using inhaled corticosteroids (OR 0.44; 95%CI: 0.24-0.82 if used in the past or never used). Looking for a first job or being unemployed, BMI and having rhinitis symptoms remained significant after multivariate adjustments. Conclusions: Uncontrolled asthma was associated with several determinants. Their identification can contribute to improve asthma care both from clinical and from public health perspectives.