Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one consanguineous Sephardic Jewish family. It is caused by mutations in the RARS2 gene which encodes mitochondrial arginine-transfer RNA synthetase. Here we describe a female patient born to nonconsanguineous British parents. She presented in the neonatal period with increased respiratory rate, poor feeding and transiently elevated blood and CSF lactate levels. She went on to manifest profound developmental delay and severe microcephaly. Edema of the hands, feet, and face were suggestive of a PEHO-like condition (progressive encephalopathy, edema, hypsarrhythmia and optic atrophy), although optic atrophy and hypsarrhythmia were absent. Cranial MRI at age 14 months showed generalized cerebral atrophy, thinning of the pons and gross atrophy and flattening of the cerebellar hemispheres. Muscle biopsies on two occasions were normal with normal respiratory chain studies. Despite the absence of respiratory chain defects, the phenotype was felt to be consistent with PCH6 and indeed two novel pathogenic RARS2 mutations were identified. Ours is the second report of PCH6 due to RARS2 mutations and demonstrates that respiratory chain abnormalities are not obligatory, whereas some features of PEHO might be present.

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United Network for Organ Sharing (UNOS) updated the heart transplant allocation system in 2018 in an effort to improve waitlist times and better prioritize the sickest candidates. The new allocation system added new statuses 1 through 3 at the top of the waitlist in place of former status 1A, with temporary mechanical support (MCS) including extracorporeal membrane oxygenation (ECMO), intra-aortic balloon pump (IABP), and other temporary ventricular and biventricular support associated with the highest two statuses. 1 Other common listing strategies such as high-dose inpatient inotrope use and durable ventricular assist devices (LVAD) became statuses 3 and 4, respectively. Early experiences with the impact of the new allocation system identified an increase in temporary MCS (predominantly IABP) and variable effects on post-transplant survival. [2][3][4][5][6] However, there are limited data about the effects of the new allocation system on waitlist outcomes, 3,6 and specifically, the effects on waitlist outcomes stratified by various transplant listing strategies. Ongoing updates to the UNOS dataset allow for additional follow-up time and analyses of waitlist outcomes based on listing strategy. These

Despite its anatomical prominence, the function of primate pulvinar is poorly understood. A few electrophysiological studies in simian primates have investigated the functional organization of pulvinar by examining visuotopic maps. Multiple visuotopic maps have been found in all studied simians, with differences in organization reported between New and Old World simians. Given that prosimians are considered closer to the common ancestors of New and Old World primates, we investigated the visuotopic organization of pulvinar in the prosimian bush baby (Otolemur garnettii). Single electrode extracellular recording was used to find the retinotopic maps in the lateral (PL) and inferior (PI) pulvinar. Based on recordings across cases a 3D model of the map was constructed. From sections stained for Nissl bodies, myelin, acetylcholinesterase, calbindin or cytochrome oxidase, we identified three PI chemoarchitectonic subdivisions, lateral central (PIcl), medial central (PIcm) and medial (PIm) inferior pulvinar. Two major retinotopic maps were identified that cover PL and PIcl, the dorsal one in dorsal PL and the ventral one in PIcl and ventral PL. Both maps represent the central vision at the posterior end of the border between the maps, the upper visual field in the lateral half and the lower visual field in the medial half. They share many features with the maps reported in the pulvinar of simians, including location in pulvinar and the representation of the upper-lower and central-peripheral visual field axes. The second order representation in the lateral map and a laminar organization are likely features specific to Old World simians.

Background Transcatheter aortic valve replacement (TAVR) has emerged as an alternative treatment for aortic stenosis in patients who are at moderate to high risk for surgical aortic valve replacement. The use of conscious sedation (CS) as compared with general anesthesia (GA) has shown better clinical outcomes for TAVR patients. Whether CS has any cost-benefit is still unknown. We analyze our local TAVR registry with a focus on the cost comparison between CS and GA for the TAVR population. Methods It is a retrospective chart review of 434 patients who received TAVR at our local center from December 2012 to April 2018. Patients who had their procedure aborted and those requiring a cardiopulmonary bypass or surgical conversion (16 patients) were excluded. The final sample size was 418. Patients were divided into two groups based on whether they received CS or GA. Primary outcomes were intensive care unit (ICU) hours, length of stay in hospital, readmission, or death at 30 days. The secondary outcome was the cost of TAVR admission. The cost was divided into direct and indirect costs. The student's T-test and chi-square tests were used for continuous and categorical variables, respectively. Adjusted logistic regression and multivariate analyses were run for primary and secondary outcomes. Results Of the 418 patients (age: 80.9±8.5, male: 52%) CS was given to 194 patients (46.4%) while GA was given in 224 patients(53.6%). The GA group had comparatively older age (81.8 vs. 80.0; p=0.03) and a higher average Society of Thoracic Surgery (STS) score (8.4 vs 5.7; p<0.001). Patients who received CS had a significantly shorter ICU stay (31.5 vs. 41.6 hours, p<0.001) and total days in the hospital (2.9 vs. 3.8 days, p=0.01). Readmission and mortality at 30 days were not different between the groups. There was no statistical difference in cost between the two groups ($72,809 vs. $71,497: p=0.656). Conclusion Using CS compared with GA improves morbidity for TAVR patients, in the form of ICU stay and the total length of stay in hospital. We did not find a significant difference in the cost of TAVR admission between CS and GA.