RNA quality control and protein aggregates in amyotrophic lateral sclerosis: A review

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. The biologic basis of ALS remains unknown. However, ALS research has taken a dramatic turn over the past 4 years. Ground breaking discoveries of mutations of genes that encode RNA processing proteins, and demonstration that abnormal aggregates of these and other proteins precede motor neuron loss in familial and sporadic ALS, have initiated a paradigm shift in understanding the pathogenic mechanisms of ALS. Curiously, some of these RNA binding proteins have prion‐like domains, with a propensity to self‐aggregation. The emerging hypothesis that a focal cascade of toxic protein aggregates, and their consequent non–cell‐autonomous spread to neighborhood groups of neurons, fits the classical temporo‐spatial progression of ALS. This article reviews the current research efforts toward understanding the role of RNA‐processing regulation and protein aggregates in ALS. Muscle Nerve 47:330‐338, 2013     

The history of parkinsonism: Descriptions in ancient Indian medical literature

The clinical syndrome of parkinsonism was identified in ancient India even before the period of Christ and was treated methodically. The earliest reference to bradykinesia dates to 600 bc . Evidences prove that as early as 300 bc , Charaka proposed a coherent picture of parkinsonism by describing tremor, rigidity, bradykinesia, and gait disturbances as its components. The scenario was further developed by Madhava, Vagbhata, and Dalhana all through history. The 15th‐century classic “Bhasava rajyam” introduced the term kampavata, which may be regarded as an ayurvedic analogue of parkinsonism. The pathogenesis of kampavata centered on the concept of imbalance in the vata factor, which controls psychomotor activities. The essential element in therapy was the administration of powdered seed of Mucuna pruriens, or atmagupta, which as per reports, contains 4%?6% of levodopa. In addition to proving the existence and identification of parkinsonism in ancient India, the study points to the significance of ancient Indian Sanskrit works in medical history. © 2013 Movement Disorder Society     

Absent left common carotid artery in a right aortic arch: Separate origins of left internal and external carotid arteries from brachiocephalic artery

We present a case of cyanotic congenital heart disease with left common carotid artery agenesis in the setting of the right aortic arch highlighting the potential implications in management.     

Ruptured sinus of valsalva presenting late following repair of tetralogy of fallot

Rupture of sinus of valsalva following repair of tetralogy of fallot (TOF) is very rare. It should be suspected as a cause of recurrent or prolonged pleural effusion and congestive cardiac failure in patients who have undergone repair of TOF. We report one such patient.     

Incidental detection of calcified left coronary artery pseudoaneurysm years after surgery for TOF

We present images from computed tomography angiography in a 40-year-old female with a calcified pseudo-aneurysm in her left coronary artery, who had previously undergone repair of tetralogy of Fallot.     

A two-vessel aortic arch: Rare configuration with bilateral brachiocephalic arteries

We present a case of type B aortic dissection with a rare aortic arch branching variation whereby two separate brachiocephalic trunks arise from the arch. This case also highlights the potential implications of this variant in the management of thoracic aortic dissections and aneurysms.