Pediatric Neurology

Bale, James F.; Bonkowsky, Joshua L.; Filloux, Francis; Hedlund, Gary L.; Larsen, Paul D.; Morita, Denise C.

doi:10.1201/9780429158292

Cited by 5 publications

(2 citation statements)

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“…(14) Seizures can be severe, myoclonic, tonic-clonic, atonic and absences. (15) Electroencephalogram results are almost universally abnormal for individuals with Angelman syndrome. (16,17) Common background abnormalities include intermittent rhythmic delta waves (84%), Intermittent rhythmic θ waves (44%), and posterior dominant rhythm slowing (44%).…”

Section: Psychomotor Delay Dysmorphsim and Epilepsy With Underlying G...mentioning

confidence: 99%

Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology: A case report of first child with a genetically confirmed diagnosis of Angelman Syndrome on a hospital-based setting in Iraq

Saadi¹

2016

JFacMedBagdad

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In this case report we discuss essential issue to be considered with regard to the clinical genetic testing in the epilepsies. The identification of genes that influence risk for the epilepsies has extremely important implications for both research and clinical practice. In a research context, information obtained may lead to the development of new treatments targeted to specific mechanisms, or even to ways of preventing epileptogenesis. In clinical practice, the use of genetic information can either clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk of developing epilepsy because of a family history (predictive testing). This 8-year old girl presented because of rapid regression in the cognitive function and had disturbed consciousness which started few weeks before admission. History of delayed milestones, epilepsy, subtle facial dysmorphology, ataxic gait and happy demeanor collectively raised suspicion of genetic/metabolic disorder. Genetic study discovered a deletion involving the maternally derived chromosome 15q11 region and this deletion is associated with Angelman Syndrome.

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Section: Psychomotor Delay Dysmorphsim and Epilepsy With Underlying G...mentioning

confidence: 99%

Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology: A case report of first child with a genetically confirmed diagnosis of Angelman Syndrome on a hospital-based setting in Iraq

Saadi¹

2016

JFacMedBagdad

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“…For example, projections compiled by Jayashree Watal of the WTO showed that the implementation of product patents mandated by the TRIPS Agreement will result in a 200-300% increase in the price of pharmaceuticals in developing countries. 75 In addition, it appears that the Agreement is being used as a stepping stone towards more robust IPRs, often referred to as TRIPS-plus protections. It is well documented that pharmaceutical patent holders may seek to delay the introduction of low-cost generics through litigation and practices such as obtaining questionably innovative secondary pharmaceutical patents 76 and data exclusivity clauses.…”

Section: Consequence-based Justificationsmentioning

confidence: 99%

The Ethics of Intellectual Property Rights in an Era of Globalization

Shah¹,

Warsh²,

Kesselheim³

2013

J. Law. Med. Ethics

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Since the 1980s, developed countries, led by the United States and the countries of the European Union, have sought to incorporate intellectual property rights provisions into global trade agreements. These countries successfully negotiated the World Trade Organization's 1994 Agreement on Trade-Related Aspects of Intellectual Property Rights (TRIPS), which required developing countries to adopt intellectual property provisions comparable to developed countries. In this manuscript, we review the policy controversy surrounding TRIPS and examine the two main ethical arguments articulated in its support--a theory of natural rights and a utilitarian argument. We contend that these theories provide insufficient bases for an intellectual property rights regime that compromises access to essential medicines in the developing world. While the policy community has engaged in active debate around the policy effects of TRIPS, scholars have not thoroughly considered the full ethical underpinnings of those policy arguments. We believe that a more robust understanding of the ethical implications of the agreement should inform policy discussions in the future.

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