Results 111 to 120 of about 74,401 (248)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley   +1 more source

Strengthening Treaty Understanding: The Role of Education in Building Durable Indigenous–State Agreements

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Education is a central mechanism for ensuring that Indigenous–State treaties are understood, supported and endure through political change. Public knowledge shapes the negotiation, acceptance, implementation and long‐term stability of agreements. In Australia, however, treaty knowledge remains fragmented.
Jacob Prehn, Harry Hobbs, Jessica Horton
wiley   +1 more source

Age‐associated immune dysregulation links to disease severity in macrolide‐resistant Mycoplasma pneumoniae pneumonia: Insights from a comparative juvenile–adult mouse model

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Macrolide‐resistant Mycoplasma pneumoniae (MRMP) infected both juvenile and adult mice, with results compared to normal juvenile mice. The findings revealed comparable bacterial loads between juvenile and adult mice, yet juvenile mice exhibited more severe lung damage and elevated levels of inflammatory cytokines.
Xuejun Li   +12 more
wiley   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala   +6 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

open access: yesAnnals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl   +10 more
wiley   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

open access: yesThe Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy