Quantifying disease progression in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) exhibits characteristic variability of onset and rate of disease progression, with inherent clinical heterogeneity making disease quantitation difficult. Recent advances in understanding pathogenic mechanisms linked to the development of ALS impose an increasing need to develop strategies to predict and more objectively measure disease progression. This review explores phenotypic and genetic determinants of disease progression in ALS, and examines established and evolving biomarkers that may contribute to robust measurement in longitudinal clinical studies. With targeted neuroprotective strategies on the horizon, developing efficiencies in clinical trial design may facilitate timely entry of novel treatments into the clinic. Ann Neurol 2014;76:643–657     

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.     

Pregnant intravenous drug user tricuspid valve infective endocarditis treated with a successful simultaneous valve replacement and Cesarean section

A 30‐year‐old female patient known to be an intravenous drug user (IVDU) was admitted to Bajcsy‐Zsilinszky Hospital Cardiology Intensive Care Unit at 29‐week gestation with severe sepsis and right heart failure. She had methicillin‐sensitive Staphylococcus aureus on blood culture. Echocardiography confirmed the diagnosis of tricuspid valve infective endocarditis (IE). She had acute deterioration and hemodynamic instability for which an emergency tricuspid valve replacement (TVR) with a simultaneous Cesarean section (CS) was performed simultaneously. Medical management is the standard treatment in IE of IVDU pregnant patients, but in case of life‐threatening complications, emergency TVR and CS are to be considered. This is the first reported case of IVDU IE treated with simultaneous TVR and CS.