Results 181 to 190 of about 71,541 (255)

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Beyond Good and Bad: Rethinking Solidarity and Coercion in Public Health. [PDF]

Am J Bioeth
Johnson T, Abdool Karim S, Silva DS.
europepmc   +1 more source

Impact of Atrial Fibrillation on the Risk of Thrombosis and Bleeding for Patients With Polycythemia Vera and Essential Thrombocytosis in the Real World

American Journal of Hematology, EarlyView.
Rodrigo Ortega Perez, Luis Manuel Domínguez Rodríguez, Francisca Ferrer‐Marín, Beatriz Cuevas Ruíz, Clara Martínez Valverde, Patricia Vélez Tenza, María Isabel Mata Vázquez, Adrián Segura Díaz, María Laura Fox, Elvira Mora, Manuel Mateo Pérez Encinas, Mercedes Gasior Kabat, Gonzalo Carreño‐Tarragona, Rafael Andrés del Orbe, Gonzalo Caballero‐Navarro, Elena Magro Mazo, Ana Pardo Sanz, José Luis Zamorano Gómez, Alberto Álvarez Larrán, Valentín Garcia‐Gutierrez   +19 more
wiley   +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

Updated Italian norms for the Paired-Associate Learning Test (PALT). [PDF]

Aging Clin Exp Res
Zago S, Rasi T, Aiello EN, Frisco F, De Luca G, Curti B, Moreschi A, Corso A, Difonzo T, Lorusso L, Formenti A, Tetto A, Di Rosa E, Poletti B, Bolognini N, Caffarra P.   +15 more
europepmc   +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

Ethical Impact Assessment: Theoretical Foundations, Methodology, and Applications. [PDF]

Sci Eng Ethics
Brey PAE.
europepmc   +1 more source

A Multicenter, Open‐Label, Phase 2 Trial Comparing Crizanlizumab Combined With Standard Therapy to Standard Therapy Alone on Renal Function in Patients With Sickle Cell Nephropathy (STEADFAST)

American Journal of Hematology, EarlyView.
Kenneth I. Ataga, Pablo Bartolucci, Santosh L. Saraf, Vimal K. Derebail, Adlette Inati, Jeffrey D. Lebensburger, Laurie DeBonnett, Rodolfo D. Cancado, Claire C. Sharpe   +8 more
wiley   +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

Beyond Sentiment: Cultivating Empathy as a Moral Competence in Healthcare. [PDF]

J Eval Clin Pract
Frantz P.
europepmc   +1 more source