Results 191 to 200 of about 940,351 (266)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Factors related to well-being and psychological health in nursing students: A cross-sectional survey. [PDF]

Int J Nurs Stud Adv
Calderón-Cruz B, García-Sánchez U, González-Oya JL, Prieto-Campo Á.   +3 more
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

The impact of ward noise management and comprehensive nursing intervention on cognitive function, psychological health, and prognosis of post-stroke patients: a randomized controlled trial. [PDF]

Front Neurol
Deng Y, Liu Y, Liu J, Sang Y, Wang F.
europepmc   +1 more source

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

The Role of Psychological Health in Cardiovascular Health: A Racial Comparison. [PDF]

Healthcare (Basel)
Sprague BN, Mosesso KM.
europepmc   +1 more source

The impact of physical and psychological health outcomes on stigma in people with neuromyelitis optica spectrum disorder: A cross-sectional study. [PDF]

Medicine (Baltimore)
Shaygannejad A, Yazdan Panah M, Vaheb S, Afshari-Safavi A, Shaygannejad V, Mirmosayyeb O.   +5 more
europepmc   +1 more source

Sexual Dysfunction in the Life Cycle of Women: Implications for Psychological Health. [PDF]

Healthcare (Basel)
Kırat S.
europepmc   +1 more source

Effects of anaemia development during pregnancy on maternal psychological health. [PDF]

BMJ Ment Health
Kwak DW, Kim S, Lee SY, Park HJ, Han YJ, Kim MY, Chung JH, Lim JH, Ryu HM.   +8 more
europepmc   +1 more source