Results 231 to 240 of about 803,576 (343)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera   +12 more
wiley   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Impact of different anesthetic protocols during anesthesia for the establishment of a porcine model of acute kidney injury

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study details the adaptations required to establish a long‐term anesthetic protocol in pigs. Three protocols were evaluated, with some causing malignant hyperthermia, hypoglycemia, or hemoynamic instability. The final protocol proved effective for developing a porcine AKI model requiring adequate arterial pressure maintenance.
Axel Guilpin   +9 more
wiley   +1 more source

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