Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

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.

Obama's law : analysis of a breakthrough law on healthcare access and lessons for the Portuguese health system management

ABSTRACT - The Patient Protection and Affordable Care Act shook the foundations of the US health system, offering all Americans access to health care by changing the way the health insurance industry works. As President Obama signed the Act on 23 March 2010, he said that it stood for “the core principle that everybody should have some basic security when it comes to their health care”. Unlike the U.S., the Article 64 of the Portuguese Constitution provides, since 1976, the right to universal access to health care. However, facing a severe economic crisis, Portugal has, under the supervision of the Troika, a tight schedule to implement measures to improve the efficiency of the National Health Service. Both countries are therefore despite their different situation, in a conjuncture of reform and the use of new health management measures. The present work, using a qualitative research methodology examines the Affordable Care Act in order to describe its principles and enforcement mechanisms. In order to describe the reality in Portugal, the Portuguese health system and the measures imposed by Troika are also analyzed. The intention of this entire analysis is not only to disclose the innovative U.S. law, but to find some innovative measures that could serve health management in Portugal. Essentially we identified the Exchanges and Wellness Programs, described throughout this work, leaving also the idea of the possibility of using them in the Portuguese national health system.

Determinants of Portuguese external imbalances

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

The economic value of Portuguese pine and eucalyptus forests

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

2008 Portuguese tobacco law: What are the effects on smoking rates?

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

Institutions and firm formation: An empirical analysis of Portuguese municipalities

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

A new opportunity for human resources management to create value: Shaping a new business paradigm in the context of the Portuguese hotel industry

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Outcomes of communication competence: A study on a Portuguese restaurant chain

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Determinants of host country for the financial subsidiaries of Portuguese companies

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Financial reporting about investment properties: Evidence from Portuguese listed companies

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Business article: M&A as the Portuguese route to Brazil

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Was ageing a cause for the increase in hospitalization costs, in the Portuguese public hospitals, between 1994 and 2010?

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Credit risk stress testing: The Portuguese environment, macroeconomic scenarios and the estimation of losses for corporate sectors

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Finance from the NOVA – School of Business and Economics

Regulation and disclosure about financial instruments: Evidence on financial reporting in the Portuguese banking sector

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Finance from the NOVA – School of Business and Economics

Testing for volatility persistence change: The effect of the credit crisis on the Portuguese banks

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Finance from the NOVA – School of Business and Economics