Results 241 to 250 of about 4,017,085 (357)

Is it time to talk? Understanding specialty child mental healthcare providers' decisions to engage in interdisciplinary communication with pediatricians. [PDF]

Soc Sci Med, 2017
Reiss M, Greene CA, Ford JD.
europepmc   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Metal‐Responsive Up‐Regulation of Bifunctional Disulfides for Suppressing Protein Misfolding and Promoting Oxidative Folding

Angewandte Chemie, EarlyView.
A stress‐responsive folding promotor was developed by conjugating metal‐binding ligands and a redox‐active disulfide. The oxidative strength of the bifunctional disulfide was enhanced by metal coordination, inhibiting protein misfolding and up‐regulating the oxidative folding capacity under metal stress.
Keita Mori, Tsubura Kuramochi, Motonori Matsusaki, Yuki Hashiguchi, Masaki Okumura, Tomohide Saio, Yoshiaki Furukawa, Kenta Arai, Takahiro Muraoka   +8 more
wiley   +2 more sources

Literature, law, and learning: excursions from computer science

With the goal of identifying success factors for interdisciplinary collaboration, this paper describes three such collaborations by a computer scientist with: a digital culture researcher from a literary background; an IT law professor; and an education ...
Hooper, Clare
core  

AI in Neurology: Everything, Everywhere, All at Once Part 3: Surveillance, Synthesis, Simulation, and Systems

Annals of Neurology, EarlyView.
This final part 3 review builds on the practical applications discussed in part 2 and explores how artificial intelligence (AI) is transforming data management, neurological education, and neurological care across large healthcare networks and datasets. The review also highlights AI's role in real‐world and synthetic data, digital twins, and innovative
Matthew Rizzo
wiley   +1 more source

Toward Natural Limb Function: A New Era in Prosthetic Innovation

Annals of Neurology, EarlyView.
The past decade has witnessed groundbreaking clinical implementation of neuroprosthetic limbs driven by signals from peripheral targets (eg, nerves and muscle) and the brain to restore limb function for individuals with limb loss or impairment. In this review, we highlight recent key clinical trials in peripheral neuroprosthetic interfaces directly ...
Yucheng Tian, Dylan M. Wallace, Paul S. Cederna, Cynthia A. Chestek, Stephen W. P. Kemp   +4 more
wiley   +1 more source

Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study

Annals of Neurology, EarlyView.
Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu, Christian G. Bénar, Samuel Medina Villalon, Lison Ciavatti, Fantine Mazel, Fabrice Bartolomei, Agnès Trébuchon   +6 more
wiley   +1 more source