Results 71 to 80 of about 92,005 (265)

Clinical Characteristics of Hypospadias and Its Association with Very Low Birth Weight Infants with Small for Gestational Age [PDF]

open access: yesNeonatal Medicine
Purpose To investigate the risk factors associated with hypospadias in very low birth weight (VLBW) infants (VLBWIs). Methods We retrospectively analyzed 729 infants born at ≥24 weeks of gestational age and weighing
Seon Nyo Kim   +9 more
doaj   +1 more source

Extreme Weather Events and Consumer Food Responses

open access: yesApplied Economic Perspectives and Policy, EarlyView.
ABSTRACT This study investigates consumer food responses to Hurricanes Helene and Milton, which affected a swath of the Southeastern U.S. in 2024. Using representative consumer survey data from six affected states, we analyze 10 distinct food responses classified into ex ante and ex post responses, and examine their associations with food insufficiency
Ahmad Zia Wahdat, Joseph Balagtas
wiley   +1 more source

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

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

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio   +11 more
wiley   +1 more source

Risk factors associated with growth failure in the follow‐up of very low birth weight newborns

open access: yesJornal de Pediatria (Versão em Português), 2016
Objective: To determine risk factors during neonatal hospital stay and follow‐up associated with failure to thrive in the first year of life of very low birth weight newborns. Methods: Study of preterm very low birth weight newborns followed from 2006 to
Milene M.S. Rover   +4 more
doaj   +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

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