Κυριακή 23 Δεκεμβρίου 2018

The role of sex in the genomics of human complex traits

The role of sex in the genomics of human complex traits

The role of sex in the genomics of human complex traits, Published online: 23 December 2018; doi:10.1038/s41576-018-0083-1

Understanding the fundamental impact of sex and gender on human health and disease is crucial for optimizing precision medicine. In this Review, Khramtsova, Davis and Stranger discuss the roles of sex in the genetics of complex traits, including genomic evidence for sex-dependent genetic architecture, models and molecular mechanisms of sexually differentiated phenotypes and implications for health care.

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The bony labyrinth of StW 573 (“Little Foot”): Implications for early hominin evolution and paleobiology

Publication date: February 2019

Source: Journal of Human Evolution, Volume 127

Author(s): Amélie Beaudet, Ronald J. Clarke, Laurent Bruxelles, Kristian J. Carlson, Robin Crompton, Frikkie de Beer, Jelle Dhaene, Jason L. Heaton, Kudakwashe Jakata, Tea Jashashvili, Kathleen Kuman, Juliet McClymont, Travis R. Pickering, Dominic Stratford

Abstract

Because of its exceptional degree of preservation and its geological age of ∼3.67 Ma, StW 573 makes an invaluable contribution to our understanding of early hominin evolution and paleobiology. The morphology of the bony labyrinth has the potential to provide information about extinct primate taxonomic diversity, phylogenetic relationships and locomotor behaviour. In this context, we virtually reconstruct and comparatively assess the bony labyrinth morphology in StW 573. As comparative material, we investigate 17 southern African hominin specimens from Sterkfontein, Swartkrans and Makapansgat (plus published data from two specimens from Kromdraai B), attributed to Australopithecus, early Homo or Paranthropus, as well as 10 extant human and 10 extant chimpanzee specimens. We apply a landmark-based geometric morphometric method for quantitatively assessing labyrinthine morphology. Morphology of the inner ear in StW 573 most closely resembles that of another Australopithecus individual from Sterkfontein, StW 578, recovered from the Jacovec Cavern. Within the limits of our sample, we observe a certain degree of morphological variation in the Australopithecus assemblage of Sterkfontein Member 4. Cochlear morphology in StW 573 is similar to that of other Australopithecus as well as to Paranthropus specimens included in this study, but it is substantially different from early Homo. Interestingly, the configuration of semicircular canals in Paranthropus specimens from Swartkrans differs from other fossil hominins, including StW 573. Given the role of the cochlea in the sensory-driven interactions with the surrounding environment, our results offer new perspectives for interpreting early hominin behaviour and ecology. Finally, our study provides additional evidence for discussing the phylogenetic polarity of labyrinthine traits in southern African hominins.



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Editorial Board

Publication date: January 2019

Source: Journal of Human Evolution, Volume 126

Author(s):



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Adverse Events in Radiation Oncology: A Case Series from Wake Up Safe, the Pediatric Anesthesia Quality Improvement Initiative

Abstract

Background

Radiation therapy in pediatric patients often requires anesthesia and poses environmental challenges. Monitoring must be done remotely to limit radiation exposure to the provider. Airway access can be limited by masks or frames. Care is often delivered in relatively inaccessible locations in the hospital. While individual institutions have reported their outcomes, this case series aims to review a multicenter registry of significant adverse events (SAE) and make recommendations for improved care.

Methods

Wake Up Safe: The Pediatric Quality Improvement Initiative maintains a multi‐site, voluntary registry of pediatric peri‐anesthetic SAE. This was queried for reports from radiation oncology from January 1, 2010 to May 10, 2018. The database contained 3,379 SAE from approximately 3.3 million anesthetics. All 33 institutions submitted data on a standardized form (Supplemental Appendix 1) to a central data repository (Axio Research, Seattle Washington). Prior to each SAE case submission, three anesthesiologists who were not involved in the event analyzed the event using a standardized root cause analysis method to identify the causal or contributing factor(s).

Results

Six SAE were identified. In three, incorrect programming of a propofol infusion resulted in overdose. In case one, the 3 year old female became hypotensive, requiring vasopressors and volume resuscitation. In the second, the 2 year old female experienced airway obstruction and apnea resquiring chin lift. In case three, the child suffered no consequences despite a noted overdose of propofol infusion. In case four, a 2 year old female with recent respiratory infection suffered laryngospasm during an unmonitored transport to the recovery area. She developed profound oxygen desaturation with bradycardia treated with succinylcholine and chest compressions. In case five, a 6 year old former premature child suffered laryngospasm at the conclusion of mask creation under general anesthesia with a laryngeal mask airway. The radiation mask delayed recognition of copious secretions. Finally, in case six, a 6 year old undergoing stereotactic radiosurgery in a head halo suffered bronchospasm and unintended extubation during therapy which required multiple attempts at re‐inbuation by multiple providers ultimately requiring cancellation of the treatment and transport to the intensive care unit.

Conclusions

There were few radiation oncology SAE, but analysis has led to the identification of several specific opportunities for improvement in pediatric anesthesia for radiation oncology.

This article is protected by copyright. All rights reserved.



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The role of sex in the genomics of human complex traits



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