Results 101 to 110 of about 59,900 (265)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

MicroCT reinvestigation of the only articulated fossil anostomid fish reveals synonymy of Arhinolemur Ameghino, 1898 and Megaleporinus Ramirez et al., 2017

The Anatomical Record, EarlyView.
Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri, Humberto L. Andrelino, Sergio Bogan, José P. O'Gorman, Federico Agnolín, Brian L. Sidlauskas, Nahuel Vega, Agustín G. Martinelli, José L. Birindelli   +8 more
wiley   +1 more source

Quantifying the relationship between auditory distractions, reaction time, and crash probability

IATSS Research
Mobile phones and listening to music while driving have become increasingly common behaviors despite the known risks they pose. The objective of this study is to examine the impact of phone call and listening to music on drivers' reaction times and to ...
Rajesh Chouhan, Ashish Dhamaniya, A. Mohan Rao, Kamini Gupta   +3 more
doaj   +1 more source

Effect of cold pressor test on visual reaction time and auditory reaction time.

Indian journal of experimental biology, 2003
Influence of stress (cold) on visual reaction time (VRT) for red, green and yellow colours and auditory reaction time (ART) for high and low pitched sounds was studied in 60 healthy subjects (17-19 years) by digital display response time apparatus. Pain threshold and pain tolerance time were 23.02 +/- 8.11 and 249.35 +/- 64.88 sec. respectively. During
L, Walia, G K, Ahuja
openaire   +1 more source

Show Me the Brain!!: A modern approach to neuroanatomy education

Anatomical Sciences Education, EarlyView.
Abstract Show Me the Brain!! (SMtB) is a digital system for interactive graphics that is designed to support instruction in neuroanatomy and neuroscience. It will soon be made open‐source and freely available. SMtB bridges medical and traditional neuroanatomy instruction with the computational systems and representational conventions common in ...
Nicholas C. Hindy, Anthony J. Bishara, Ellie Lovellette, John R. Pani   +3 more
wiley   +1 more source

The beauty of experiential learning in anatomy

Anatomical Sciences Education, EarlyView.
Abstract Anatomy is a unique subject where one must learn by doing. This is achieved through a variety of methods like dissection, use of prosections, imaging, playful learning (crocheting structures, drawing, and painting organs), through functional movement like yoga or pilates, use of 3D plastic models or by immersing oneself in virtual or augmented
Bipasha Choudhury, Ingrid Gouldsborough
wiley   +1 more source

Atypical Attentional Effort During Visual Search in Autistic Adults: Evidence From Task‐Evoked Pupillary Responses

Autism Research, EarlyView.
ABSTRACT According to prevalent views, autistic individuals have a stronger tendency to allocate attention to details, as supported by reports of enhanced visual search performance. However, both the dynamics and the types of information involved in attentional guidance in autism are not fully understood.
Zainab Naaran, Amit Yashar
wiley   +1 more source