Results 81 to 90 of about 2,713,146 (243)

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather
core   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

A new era in prenatal care: non-invasive prenatal testing in Switzerland

Swiss Medical Weekly, 2014
QUESTIONS UNDER STUDY: Prenatal care has been significantly influenced by the introduction of non-invasive prenatal testing (NIPT) for aneuploidies in 2012. The aim of this study was to describe the current impact of NIPT on prenatal care.
Gwendolin Manegold-Brauer, Anjeung Kang Bellin, Sinuhe Hahn, Christian De Geyter, Johanna Buechel, Irene Hoesli, Olav Lapaire   +6 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Next-Generation Prenatal Testing [PDF]

, 2021
Since the advent of prenatal genetic testing, the amount of information available to prospective parents has expanded rapidly. Whole genome sequencing and machine learning will see this expansion of information become an explosion in the near future ...
Sullivan, Rebecca, Bonate, Ryan, Crowley, Hannah, Suarez, Victor, Bielanski, Anna   +4 more
core  

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

The salience of genomic information to reproductive autonomy: Australian healthcare professionals’ views on a changing prenatal testing landscape

New Genetics and Society
Genomic testing in prenatal care is rapidly advancing and it is now possible to obtain an entire fetal genome via a blood test administered in early pregnancy.
Kerryn Drysdale, J. L. Scully, L. Kint, K.-J. Laginha, J. Hodgson, I. Holmes, K. L. MacKay, A. J. Newson   +7 more
doaj   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari, Adam C. Frank, Ravi Bansal, Flora M. Vaccarino, Robert A. King, Paul Lombroso, Lawrence Scahill, James F. Leckman, Bradley S. Peterson   +8 more
wiley   +1 more source