Results 101 to 110 of about 152,354 (313)

Evolution of Physical Intelligence Across Scales

open access: yesAdvanced Intelligent Discovery, EarlyView.
By following the evolution of physical intelligence across scales, this article shows how intelligence arises from materials, structures, physical interactions, and collectives. It establishes physical intelligence as the evolutionary foundation upon which embodied intelligence is built.
Ke Liu   +7 more
wiley   +1 more source

NO NĀ PUA: Exploring the feasibility of culture‐based social prescribing on firefighters' wellbeing in Hawaiʻi

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Firefighters face an array of stressors due to the demands of their occupation, leading to a high prevalence of mental health challenges. Social prescribing represents a novel approach to healthcare that emphasizes a holistic view of health and wellbeing.
Janice Ikeda   +2 more
wiley   +1 more source

Federal Protections for Farmworker Health in the United States: A Scoping Review of Three Decades of Research

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Objectives This scoping review characterizes the scope, methods, and framing of empirical research evaluating the Field Sanitation Standard (FSS) and Worker Protection Standard (WPS) of the U.S. Environmental Protection Agency and the U.S. Department of Labor respectively.
Kaitlyn Alvarez Noli   +3 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 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

open access: yesAmerican 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   +23 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

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

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

The Chinese adverse prognosis of very preterm infants (CARE-Preterm) cohort: study design and baseline characteristics for a prospective multicenter cohort study

open access: yesBMC Pediatrics
Background As the increasing survival of preterm infants bearing lower gestational age (GA) and birth weight (BW), new challenges have emerged regarding their management and prognosis.
Ranran Shi   +5 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

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