Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H) in the MCT8 gene that was sequenced directly from genomic DNA and occurred de novo in the maternal germline, as both his mother and his sister were not carriers of the mutation. Ruling out a common polymorphism, 50 normal individuals of the same ethnic background did not harbour the mutation. The identified MCT8 gene mutation (R271H) is very likely to be the genetic cause for neuronal hypothyroidism despite elevated serum T3 levels.

Competition and the Legal Environment: Intellectual Property Rights in the Early American Film Industry

No abstract available.

FDI inflows and outflows, intellectual property rights, and productivity growth

Using panel data of 57 countries during the period of 1995-2012, this study investigates the impact of intellectual property rights (IPR) processes on productivity growth. The IPR processes are decomposed into three stages, innovation process, commercialization process, and IPR protection process. Our results suggest that better IPR protection is directly associated with productivity improvement only in developed economies. In addition, the contribution of IPR processes on growth through foreign direct investment (FDI) appears to be very limited. Only FDI inflows in developed countries which help to create a better innovative capability lead to a higher growth. And in connection with FDI outflows, only IPR protection and commercialization processes are proven to improve productivity in the case of developing countries, particularly when the country acts as the investing country.

Frontex and the respect of fundamental rights: from better protection to full responsibility. EPC Policy Brief, 3 June 2014

The European Agency for the Management of Operational Cooperation at the External Borders of the Member States of the European Union (Frontex) was created to improve border management cooperation between Member States. Seen from its inception as a security-oriented body, tools and rules have been gradually developed to enhance the human rights dimension and protection regarding Frontex activities. However, this step has not been accompanied with the explicit recognition of Frontex’s legal responsibility regarding violations of human rights occurring during joint operations it coordinates. Despite Frontex position rejecting such a responsibility, it is no longer clear whether this position can be maintained, as Yves Pascouau and Pascal Schumacher demonstrate in this Policy Brief.

To Promote the Progress: Why Do States Create New Intellectual Property Rights? ACES Working Papers, August 2012

The question I seek to answer is not about explaining support or resistance to the globalization or harmonization of IP rights. Rather, I am interested in new IP rights: what happened to cause a certain intangible to change from something that was not considered intellectual property to something that was considered intellectual property? Explaining the globalization or harmonization of already-existing IP rights is an important task, but fundamentally different than explaining why some things became intellectual property in the first place.

To eliminate employment discrimination : a sequel : the Federal civil rights enforcement effort--1977 : a report /

A sequel to v. 5 of its The Federal civil rights enforcement effort--1974.

Medical Advisory Committee report and recommendations on the administration of the OASI disability freeze provision : preservation of rights of individuals with extended total disability, Social security amendments of l954.

"July 1955."

California disability insurance program.

Mode of access: Internet.