Results 111 to 120 of about 121,365 (288)

Design, Modeling, and Control of a Soft Robotic Diaphragm‐Assist Device in a Respiratory Simulator

open access: yesAdvanced Intelligent Systems, EarlyView.
A soft robotic diaphragm‐assist device using fabric‐based pneumatic actuators with a 2‐step control system to optimize synchronization and support is introduced. This system can detect the initiation of breathing to trigger assistance and regulate pressures to provide the correct level of inhalation augmentation. Validation and testing are completed on
Diego Quevedo‐Moreno   +5 more
wiley   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe   +5 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

SONOGRAPHY IN BLUNT ABDOMINAL TRAUMA

open access: bronze, 1992
Paul L. Tso   +13 more
openalex   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

open access: yesAlzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri   +10 more
wiley   +1 more source

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