Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- n/a --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Medicine --- Neurology & clinical neurophysiology --- Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot-Marie-Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot-Marie-Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical–descriptive and formal–genetic to a molecular–genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.

Pompe disease --- GAA gene --- general population database --- carrier frequency --- genetic prevalence --- spinal muscular atrophy --- quality of life --- child neurology --- patient-reported outcomes --- neuromuscular --- carpal tunnel syndrome --- median nerve neuropathy --- electrodiagnostic studies --- neuromuscular ultrasound --- mucopolysaccharidosis --- neuropathy --- children --- adolescents --- Charcot–Marie–Tooth disease --- traumatic neuropathy --- inflammatory neuropathy --- metabolic neuropathy --- posterior spinal fusion --- kyphosis --- sagittal plane deformity --- signal recognition particle --- 3-hydroxy-3-methylglutaryl --- coenzyme A reductase --- juvenile myositis --- therapy --- clinical course --- chaperone-assisted autophagy --- clinical trials --- Duchenne muscular dystrophy --- public health surveillance --- distal arthrogryposis --- AMC --- ECEL1 --- contractures --- muscle MRI --- spinal muscular atrophy (SMA) --- nusinersen --- fine manual dexterity --- ultrasonographic elastography --- neuromuscular disease --- muscle --- brachial plexus neuritis --- hereditary sensory and motor neuropathy --- paralysis --- vaccination --- pediatrics --- n/a --- Charcot-Marie-Tooth disease

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

Medicine --- mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers --- mucopolysaccharidosis IIIB --- quantitative proteomics --- NAGLU --- lysosomes --- Gaucher disease --- bone involvement --- enzyme replacement therapy --- substrate reduction therapy --- Osteoimmunology --- RANK/RANKL --- Osteopontin --- MIP-1β --- mucolipidosis II --- sortilin --- TGF-beta --- cathepsin D --- Fabry disease --- alpha-galactosidase A --- endocytosis --- lysosome --- IGF2R/M6P --- clathrin --- chloroquine --- lysosomal diseases --- precision medicine --- pharmacological chaperones --- gene therapy. --- Pompe disease --- lysosomal targeting --- autophagy --- gene therapy --- muscle --- satellite cells --- rhGAA --- glycogen --- lysosomal α-glucosidase --- GAA biomarker --- Gaucher Disease --- Wnt/β-catenin --- Dkk1 --- Wnt3a --- iPSC --- neuronopathy --- Krabbe disease --- Twitcher mouse --- psychosine --- visual system --- visual cortex --- astrogliosis --- mucopolysaccharidosis type I --- Hurler syndrome --- hematopoietic stem cell transplantations --- animal models --- experimental therapies --- axon guidance --- lysosomal storage disorders --- neuronal circuit --- α-galactosidase A --- A4GALT --- globotriaosylceramide (Gb3) --- globotriaosyl-sphingosine (lysoGb3) --- pharmacological chaperone therapy --- exosomes --- endocytic pathways --- neurodegenerative disease --- Parkinson disease --- lysosomal storage disorder --- viral vectors --- newborn screening --- variant interpretation --- second tier test --- tandem mass spectrometry --- lyso-Gb3 --- dried blood spot --- GLA gene --- globotriaosylsphingosine --- biomarkers

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Image analysis is a fundamental task for any application where extracting information from images is required. The analysis requires highly sophisticated numerical and analytical methods, particularly for those applications in medicine, security, and other fields where the results of the processing consist of data of vital importance. This fact is evident from all the articles composing the Special Issue "Entropy in Image Analysis II", in which the authors used widely tested methods to verify their results. In the process of reading the present volume, the reader will appreciate the richness of their methods and applications, in particular for medical imaging and image security, and a remarkable cross-fertilization among the proposed research areas.

image binarization --- optical character recognition --- local entropy filter --- thresholding --- image preprocessing --- image entropy --- image encryption --- medical color images --- RGB --- chaotic system --- crowd behavior analysis --- salient crowd motion detection --- repulsive force --- direction entropy --- node strength --- Pompe disease --- children --- quantitative muscle ultrasound --- texture-feature parametric imaging --- compound chaotic system --- S-box --- image information entropy --- image chaotic encryption --- cryptography --- Latin cube --- bit cube --- chosen plaintext attack --- atmosphere background --- engine flame --- infrared radiation --- detectability --- image quality evaluation --- image retrieval --- pooling method --- convolutional neural network --- feature distribution entropy --- lossless compression --- pattern classification --- machine learning --- malaria infection --- entropy --- Golomb–Rice codes --- image processing --- image segmentation --- weld segmentation --- weld evaluation --- convolution neural network --- Python --- Keras --- RSNNS --- MXNet --- brain-computer interface (BCI) --- electroencephalography (EEG) --- motor imagery (MI) --- continuous wavelet transform (CWT) --- convolutional neural network (CNN) --- hyperchaotic system --- filtering --- DNA computing --- diffusion --- deep neural network --- data expansion --- blind image quality assessment --- saliency and distortion --- human visual system --- declining quality --- data hiding --- AMBTC --- steganography --- stego image --- dictionary-based coding --- pixel value adjusting --- neuroaesthetics --- symmetry --- balance --- complexity --- chiaroscuro --- normalized entropy --- renaissance --- portrait paintings --- art history --- art statistics --- chaotic systems --- DNA coding --- security analysis --- magnetic resonance images --- non-maximum suppression --- object detection --- key-point detection --- IoU --- feature fusion --- quasi-resonant Rossby/drift wave triads --- Mordell elliptic curve --- pseudo-random numbers --- substitution box --- nuclear spin generator --- medical image --- peak signal-to-noise ratio --- key space calculation --- Duchenne muscular dystrophy --- ultrasound --- backscattered signals --- medical imaging --- neural engineering --- computer vision --- crowd motion detection --- security