Results 81 to 90 of about 77,361 (253)

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

Shared neurobiological changes in individuals with Crohn’s disease and major depressive disorder

Communications Medicine
Background Emerging evidence highlights the profound impact of the central nervous system on the gut. This is particularly evident in inflammatory bowel disease, where psychological stress has been shown to modulate the inflammatory response and precede ...
Hanna A. Hartmann, Marja L. Berthold, Shukti Ramkiran, Lukas Bündgens, Julius W. Jaeger, Jana Hagen, Maria Backhaus, Maria Collée, Gereon J. Schnellbächer, Tanja Veselinović, N. Jon Shah, Kai M. Schneider, Ravichandran Rajkumar, Irene Neuner   +13 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +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

Screening for depression in chronic haemodialysis patients as a part of care in dialysis setting: a cross-sectional study

Frontiers in Psychiatry
BackgroundDepressive disorder is common among haemodialysis patients. The purpose of this study was to explore approaches to diagnosing depression in the context of a real-life setting, with the view of creating practical recommendations.
Alicja Kubanek, Marcin Renke, Beata R. Godlewska, Przemysław Paul, Mateusz Przybylak, Anna S. Kowalska, Piotr Wąż, Michał Błaszczyk, Aleksandra Macul-Sanewska, Przemysław Rutkowski, Kamila Czarnacka, Krzysztof Bednarski, Jakub Grabowski   +12 more
doaj   +1 more source

Animal models in molecular biology research: Challenges, ethical imperatives, and the path to human‐relevant translation

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi, Md. Taslim Sarker, Ferdous‐Ul‐Haque Joy, Shahriar Mohd Shams, Tahmina Foyez, Md. Abdul Mazid, Syed Masudur Rahman Dewan   +6 more
wiley   +1 more source

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Psychological Distress and Disordered Eating in Adults Attending an Obesity Outpatient Clinic

Diabetes, Metabolic Syndrome and Obesity
Katarzyna Cyranka,1– 3 Zofia Zych,4 Katarzyna Cyganek,3,5 Maciej T Małecki,3,5 Krzysztof Styczeń,2,3 Martyna Pietruś,1,3 Dominika Dudek,2,3 Tomasz Klupa,3,6 Bartłomiej Matejko1,3,6 1Psychodiabetology Unit ...
Cyranka K, Zych Z, Cyganek K, Małecki MT, Styczeń K, Pietruś M, Dudek D, Klupa T, Matejko B   +8 more
doaj  

A hyperadrenergic state in hypertension is associated with depressive symptoms and impaired stress-modulated vasomotor responses: evidence for chronic stress as a common aetiology for a hypertension/depression phenotype

BJPsych Open
Background Noradrenergic activation in the central and peripheral nervous systems is a putative mechanism explaining the link between hypertension and affective disorders.
Bushra Farukh, Luca Faconti, Ryan J. McNally, Calum D. Moulton, Allan H. Young, Phil J. Chowienczyk   +5 more
doaj   +1 more source