Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Large plate monitoring using guided ultrasonic waves [PDF]
Areas of stress concentration around welded structures are likely to lead to fatigue cracks and corrosion pitting during the life time of technical machinery.
Ghandourah, EII
core
The effect of ultrasonic waves and seed priming in conjunction with weed management on yield and yield components of cowpea (Vigna sinensis L.) [PDF]
Introduction The mechanism of seed priming is to initiate the repairing system for membrane and the metabolic preparation for germination through controlling water absorption rate of seed.
Abbas Nasiri Dehsorkhi +3 more
doaj +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Experimental and numerical studies on low velocity impacts detection and damage identification in metal and composite structures using ultrasonic waves propagation (Lamb waves) [PDF]
In this thesis a theoretical base required for the development of a reliable structural health monitoring system based on ultrasonic guided waves is considered.
Tancredi, Simone
core
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Analysis of ultrasonic transducers with fractal architecture [PDF]
Ultrasonic transducers composed of a periodic piezoelectric composite are generally accepted as the design of choice in many applications. Their architecture is normally very regular and this is due to manufacturing constraints rather than performance ...
Hayward, G. +5 more
core +1 more source
Introduction: Increase of world population, lack of food sources, and need for food security, protection of agricultural products against losses, drought, pests, and diseases, all seems to be necessary more than ever.
P. Ahmadi Moghaddam +2 more
doaj +1 more source
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Study of Mechanical Stresses in Thin-Walled Pressure Vessels Using Ultrasonic Methods
This paper presents an experimental study of the propagation of ultrasonic Rayleigh waves in the walls of a pressure vessel in order to estimate mechanical stresses.
Yonka Ivanova
doaj +1 more source

