Results 181 to 190 of about 319,741 (253)

Exploring the moral status of cadavers through artificial intelligence: a thematic analysis of AI-based perspectives in anatomy education. [PDF]

Philos Ethics Humanit Med
Topcu I, Karip B, Demir P, Kac B.
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

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

Case Report: Early-onset juvenile psoriatic arthritis presenting at 15 months-a diagnostic challenge in infancy. [PDF]

Front Pediatr
Hasasna L, Atawneh M, Atiani M, Alami M, Abunejma FM.   +4 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Unveiling the Complex Interplay: Sudden Emergence of First-Rank Schneiderian Symptoms Following TMS in a Patient With Severe Depression and Complex Trauma. [PDF]

Case Rep Psychiatry
Singh J, Leontieva L, Sperry SD, Sachdeva K, Jaka S.   +4 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

From transaction to transformation: a binational perspective on integrating community pharmacy into the digital health ecosystem of Southern European health systems. [PDF]

J Pharm Policy Pract
Klimentidis D, Babar ZU, Petrides M, Peletidi A.   +3 more
europepmc   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Learning with Patient Campaigners About a German Drug Scandal*. [PDF]

Ber Wiss
Olszynko-Gryn J, Suter A, Bolger E, Nemec B.   +3 more
europepmc   +1 more source