103,997 research outputs found
Advanced microscopic and histochemical techniques : diagnostic tools in the molecular era of myology
No full textOver the past two centuries, myology (i.e. the basic and clinical science of muscle and muscle disease) has passed through 3 stages of development: the classical period, the modern stage and the molecular era. The classical period spans the last part of nineteenth century and the earlier part of the twentieth century. During this time, several major muscle diseases were clinically and pathologically characterized, including Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD). The modern stage in the second half of the twentieth century is characterized by the adaptation of histo and cytochemical techniques to the study of muscle biopsies. These tools improved the diagnostic accuracy and made possible the identification of new changes and structures (Engel and Cunningham, 1963; Scarlato, 1975)
Infrared Thermography: Recent Advances and Future Trends
No full textThe book is organised in two main parts: Part I and Part II and into several chapters.
The Part I includes two chapters. The first one, by the Editor, deals with basic theory, which is described following the historical steps by eminent scientists, from Herschel, to Nobili, Melloni, Stefan, Boltzmann, Planck and others. The radiation mechanisms with the most important parameters, which play a key role in acquisition and interpretation of thermal images are recalled and discussed. A section is devoted to detectors used for infrared technology. The main steps in detectors development following the technological progress are also drawn. The second chapter is by Roberto Rinaldi of the Infrared Training Center (ITC) by Flir Systems in Milan (Italy). This chapter is concerned with an overview of infrared imaging devices from the first prototype developed in 1958 to the multitude of models, which are today available. The historical evolution of the infrared technology is traced within the key features of each model. In particular, some basic characteristics and performance are described which may help the reader in the choice of the most appropriate device for the specific application.
Part II is subdivided into four sections and many chapters.
The first section regards applications to medicine (Chap. 1) and veterinary (Chap. 2). The study of the temperature of the human body has been associated with health as far back as the 1st century BC, when Hypocrites, (the father of medicine), used the sense of touch to skin surface temperature anomalies and to determine the health of his patients. Still today, monitoring the body temperature variation, aides in both diagnosis and treatment planning. Chapter one was prepared by Boris G. Vainer of the Institute of Semiconductor Physics of the Russian Academy of Sciences. This chapter reports on the IRT’s state of art in medicine with methodological approaches and a variety of applications such as in the diagnosis of breast cancer, in ophthalmologic surgery, in cardiovascular surgery, in the visualization of ischemic tissues and in many others. Chapter two presents application and use of infrared thermography in farm animals and veterinary medicine. This chapter was supplied by Petr Kunc and Ivana Knizkova of the Institute of Animal Science - University of Prague (The Czech Republic). The addressed areas include reproduction, thermoregulation, animal welfare and the milking process. The application of IRT to veterinary medicine is particularly useful to predict inflammation since, contrary to human beings, animals cannot reveal any symptom before the illness has become important.
Section two includes a chapter on the use of Infrared thermography in foodstuff conservation by Klaus Gottschalk of the Leibniz-Institut für Agrartechnik Potsdam (Germany). It is shown the usefulness of IRT to control the conservation conditions of fruits and vegetables. The main advantage of using an infrared device lies in the possibility to control and improve the climate, which is essential in prolonging the shelf life of crops.
Section three regards applications of IRT to industrial engineering. The first chapter, prepared by Giovanni M. Carlomagno of the Department of Aerospace Engineering - University of Naples Federico II (Italy), is an overview on IRT to thermo-fluid-dynamics. After recalling the first historical attempts in measuring heat transfer coefficients, this chapter describes the most useful heat flux sensors, supplies information about thermal restoration of data and shows several examples of convective heat transfer measurements in complex fluid flows, ranging from natural convection to hypersonic regime. The attention of chapter two is focused on the application of IRT to combustion. This contribution is by Christophe Allouis and Rocco Pagliara of the Combustion Institute CNR in Naples (Italy). It is demonstrated the usefulness of an infrared imaging system for understanding fluid-dynamics phenomena associated with combustion processes in turbine burners. The third chapter by Ralph A. Rotolante of Vicon Infrared in Boxborough, MA (USA) regards the use of IRT for nondestructive inspection purposes. The main pulse and lockin techniques are described with some application examples including also the inspection of real aircraft parts. Indeed, a remote imaging system offers many advantages over other methodologies since it is fast and two-dimensional with safeguard of the part integrity.
Section four is concerned with the application of IRT in architecture and civil engineering. This is a relevant topic for infrared thermography applications after Building Regulation (2007) for Conservation of Fuel and Energy. A chapter by Ermanno Grinzato of CNR-ITC in Padua (Italy) reports some examples of structural analysis aided by IR thermography. In particular, it is stressed the impressive help, which is given to the comfort monitoring by the distributed temperature map measured by an infrared device. The attention goes also to the possibility, using a novel method, to “see” the environmental main quantities as air temperature, relative humidity and velocity, obtained from thermographic readings.
Besides those herein described, an infrared imaging system can be advantageously used for many other applications. Infrared thermography is an excellent condition monitoring tool to assist in the reduction of maintenance costs on mechanical equipment. One of the biggest problems in mechanical systems is heat generated by friction, cooling degradation, material loss or blockages. The infrared technique allows for the monitoring of temperatures and thermal patterns, on a wide variety of equipments including pumps, motors, bearings, pulleys, fans, drives, conveyors etc, and while the equipment is online and running under full load. Information acquired from thermographic images enable a company to predict equipment failure and to plan corrective actions before a costly shutdown, equipment damage, or personal injury occurs. What it is more, the inspection can be performed far away from any dangerous condition without additional costs in terms of workers health care.
However, it has to be pointed out that infrared thermography is still not completely exploited. It could be employed in a lot of other novel applications; it is only a matter of fantasy and skill
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies
No full textMyotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) was identified only 18 years ago and is caused by a (CCTG)n expansion in ZNF9/CNBP. When transcribed into CUG/CCUG-containing RNA, mutant transcripts aggregate as nuclear foci that sequester RNA-binding proteins, resulting in spliceopathy of downstream effector genes. Despite clinical and genetic similarities, DM1 and DM2 are distinct disorders requiring different diagnostic and management strategies. DM1 may present in four different forms: congenital, early childhood, adult onset and late-onset oligosymptomatic DM1. Congenital DM1 is the most severe form of DM characterized by extreme muscle weakness and mental retardation. In DM2 the clinical phenotype is extremely variable and there are no distinct clinical subgroups. Congenital and childhood-onset forms are not present in DM2 and, in contrast to DM1, myotonia may be absent even on EMG. Due to the lack of awareness of the disease among clinicians, DM2 remains largely underdiagnosed. The delay in receiving the correct diagnosis after onset of first symptoms is very long in DM: on average more than 5 years for DM1 and more than 14 years for DM2 patients. The long delay in the diagnosis of DM causes unnecessary problems for the patients to manage their lives and anguish with uncertainty of prognosis and treatment
Unusual diagnostic and management problems in neuromuscular diseases: Mitochondrial disorders
No full text
IDMC-6 - The sixth International Myotonic Dystrophy Consortium Meeting
No full textIn 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3� region of serinethreonine kinase gene DMPK at 19q13.3. Almost a decade later in 2001 collaborators in Minnesota and Germany discovered a second gene defect responsible for myotonic dystrophy type 2 (DM2), another autosomal dominant, multisystem disease, that is similar to but distinct from DM1. DM2 results from an unstable CCTG repeat expansion in intron 1 of the zinc finger protein 9 gene ZNF9 at 3q21. The exact cause for the instability of the DNA at these two different loci, and the explanation for the tissue mosaicism that exists in different tissues in DM1 and DM2 remains a mystery although part of the answer probably lies in faulty repair of DNA. Why the CTG repeat expansion in DM1 is larger in skeletal and cardiac muscle and in certain parts of the brain than in circulating leucocytes and some other tissues is not clear. Whether this tissue mosaicism accounts for or plays a major role in determining the spectrum of disease manifestations requires further investigation.Whether it is possible to use the tissue instability of DNA in refining the diagnosis and prognosis of patients with DM1 and DM2 is a question that has yet to be explored
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