Cutaneous venous malformations presenting in an adolescent boy: Cerebral cavernous malformation syndrome

Cerebral cavernous malformations (CCM) are collections of enlarged capillaries with irregular structure, located in the brain or spinal cord, that can be life-threatening. We describe a neurologically asymptomatic 15-year-old boy who presented with cutaneous venous malformations (CVM) that developed in adolescence. Owing to his family history of CCM, genetic testing was obtained and confirmed a new mutation in the CCM3 (PDCD10) gene. Brain imaging showed multiple CCM. Although currently asymptomatic, he will continue to be monitored annually by neurology to assess for symptoms of intracranial hemorrhage (ICH) that would warrant investigation with MRI.     

Prenatal Diagnosis of Isolated Right Pulmonary Agenesis Using Sonography Alone

Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.     

Interpreting the results of Parkinson's disease clinical trials: Time for a change

Randomized clinical trials testing putative disease‐modifying agents in Parkinson's disease (PD) have yielded controversial results that have not influenced evidence‐based recommendations for the treatment of PD. We argue that the failure of these clinical trials may be linked to end point‐based statistical analyses that must make prior assumptions about the magnitude and the time course of wash‐in and wash‐out of drug effects. Many of these shortcomings may be avoided with quantitative modeling of the entire time course of the clinical trial and examining evidence for three concomitant processes, disease progression, symptomatic drug effects and disease modifying effects. The power of this approach is illustrated by modeling of DATATOP and ELLDOPA trial data. © 2010 Movement Disorder Society     

Incremental benefit of three‐dimensional transthoracic echocardiography in the assessment of left atrial appendage aneurysm leading to severe extrinsic compression of a coronary artery

Left atrial appendage aneurysm (LAA AN) is a rare disease entity, which can be congenital or acquired in nature. We report an adult patient with LAA AN presenting with anginal chest pain in whom live/real time three‐dimensional transthoracic echocardiography (3DTTE) provided incremental value over the two‐dimensional (2D) technique in providing a more comprehensive assessment of the lesion. A literature review of the salient features of LAA AN is also provided in a tabular form.     

Ethics in Acute Care Research: A Global Perspective and Research Agenda

The 2013 Academic Emergency Medicine consensus conference focused on global health and emergency care research. One conference breakout session discussed research ethics and developed a research agenda concerning global acute care research ethics. This article represents the proceedings from that session, particularly focusing on ethical issues related to protecting human subjects while conducting acute care research. Protecting human research subjects from unnecessary risk is an important component of conducting ethical research, regardless of the research site. There are widely accepted ethical principles related to human subjects research; however, the interpretation of these principles requires specific local knowledge and expertise to ensure that research is conducted ethically within the societal and cultural norms. There is an obligation to conduct research ethically while recognizing the roles and responsibilities of all participants. This article discusses the complexities of determining and applying socially and culturally appropriate ethical principles during the conduct of global acute care research. Using case studies, it focuses both on the procedural components of ethical research conducted outside of “Western” culture and on basic ethical principles that are applicable to all human subjects research. This article also proposes specific research topics to stimulate future thought and the study of ethics in these complex circumstances.