Timothy Syndrome (TS) is a multisystem disorder, prominently featuring cardiac action potential prolongation with paroxysms of life-threatening arrhythmias. The underlying defect is a single de novo missense mutation in CaV1.2 channels, either G406R or G402S. Notably, these mutations are often viewed as equivalent, as they produce comparable defects in voltage-dependent inactivation and cause s...

Identification of acoustic sources is a great deal and the most important problem emerging in biomedical applications and nondestructive testing. We present the basics of time reversal Acoustic Emission (AE) principle and point out the advantages of AE nondestructive testing for localization and classification of acoustic sources. This approach provides the tool for the defect localization by m...

Reconstruction of the upper lip requires symmetrical reconstruction of hairy male skin according to the aesthetic principle. A moderate defect of the upper lip had nonhairy skin on the upper one-third and hairy skin on the lower two-thirds in a Korean man. A hairy preauricular free flap is useful for correcting superficial-thickness skin defects of the upper lip, when local and regional flaps a...

The well-known technique of defect correction can be used in various ways for estimating local or global errors of numerical approximations to differential or integral equations. In this paper we describe the general principle in the context of linear and nonlinear problems and indicate the interplay between the auxiliary scheme involved and a correct definition of the defect. Applications disc...

Introduction: biomaterials are worldwide tested in healthy sciences disciplines to be further applied in human patients and these tests ought to be conducted in small animals before they can be safely applied in human clinical research. Objectives: describe in detail a novel model of a mandible defect in Wister rats to provide the researchers the possibility to easily test their biomaterials wh...

Dislocation networks and their evolution are known to control the mechanical properties of metal samples. However, lack computationally efficient statistically rigorous descriptors for such defect systems has hindered development adoption rational protocols optimal design these material systems. This study presents a framework statistical quantification low dimensional representation dislocatio...

background & importance: iniencephaly is a rare cranio-cervical deformity. it belongs to neural tube defects. this disorder is characterized by a retroflexion of head, a very short neck, varying degrees of incomplete posterior closure of vertebrae and cervical and thoracic spinal synostosis. this malformation is associated with central nervous system and systemic malformations. most of patients...

Soft tissue defect in the foot is commonly seen as it more prone to trophic ulcers since main weight bearing area of body. Reconstruction requires provision a stable, supple, durable and preferably sensate skin coverage. Following Sir Gilli’s principle replacing like with like, medial plantar artery flap provides an anatomically similar, glabrous for coverage on surface. In present study, we sh...

Quantitative detection of defects in structures is always a hot research topic the field guided wave inverse scattering. Research studies on how to effectively extract defect-related information encompassed multi-frequency and multi-modes scattered signals for reconstructions have been paid attention recent decades. In this paper, novel deep learning-based quantitative scattering technique has ...

Layered transition-metal dichalcogenides (TMDs) constitute an emerging class of materials that provide researchers a platform to realize fundamental studies and design promising optoelectronic devices. While defects are almost unavoidable part TMDs, they bring additional interesting properties absent in defect-free layers. Moreover, the controlled introduction TMDs makes it possible tailor elec...