Hautot padre e figlio (Italian Edition)

Epub Downloads Ibooks Hautot Padre E Figlio Italian Edition Pdf Rtf

---

If it doesn't happen, I'll change the thread title to include Marcello and on the first post refer people to the right pages, when you're more or less through, as this discussion is something that should be easy to find. Very interesting, Phaeded, about the auctions. You do not have the required permissions to view the files attached to this post.

For anyone who wants to follow the continued discussion of Scipio Caraffa, go to viewtopic. I was in Chapter 13, where he discusses the tarot of Milan. The other thing that he looks at in the chapter is the Cary Sheet, which he says is from Milan c. This is a subject that was debated inconclusively in a long thread in the Exhibition Gallery viewtopic. So far as I could find, Dummett was only mentioned once in the whole thread, by Ross in the first post, who gave a brief summary based on Game of Tarot , essentially saying that Dummett's argument was the following: That of course is not much of an argument, since the French could just as well have brought the Cary Sheet to Milan.

Actually, Dummett has a long argument, some of which is relevant to the question that Ross posed in that thread, at least in methodology. How do we know it's from Milan? Well, he says, because it is similar to the Tarot de Marseille, which has a type C order. That is simply more of the same. The reports of the C order in Milan are all after the French occupation, so they could have brought it to Milan.

Even if the sheet were laid out in C order itself, it still might have been an order brought to Milan. But there is more, occasionally. For some cards, he says it is similar in design to the Milan painted cards. That at last gets to something in Milan before the Cary Sheet. He goes through the cards, mostly emphasizing the similarities to the Tarot de Marseille. That brings up another problem: Otherwise there is nothing special about the Cary Sheet. Furthermore, if the Cary Sheet originates from Milan, there should be something that ties the Cary Sheet especially to Milan, as opposed to other early centers of the tarot.

Another issue is that perhaps the Cary Sheet is an ancestor to other French decks besides the Tarot de Marseille. Dummett does not consider other Italian decks besides the Milan ones, or other French decks besides the Tarot de Marseille. These questions require looking at a lot of decks, not just the three or four you think are related i. But I very much like his method, which is to identify specific objective features of the Cary Sheet and other packs and compare them. I just don't know why he did it only with the Tarot de Marseille. So I will go through his analysis row by row, expanding on it to include more about other decks, Italian ones before the Cary Sheet and French ones after the Cary Sheet.

I will go group by group, posting the image from the Beineke website between the quote and my discussion. The result, I think, is in general a defense of Dummett's view. Dummett starts with the bottom row of the Cary Sheet. On the two cards in the suit of Batons, the suit signs have exactly the flat shape that is typical of the Tarot of Marseilles, with the same end of the wedge, lacking only the numerals on the sides.

La Torre, di cui abbiamo soltanto il quarto superiore destro, presenta una netta somiglianza con quella del Tarocco di Marsiglia. Non si scorgono figure umane; sembra che da dietro alla torre sporga una vacca. Temperance sits on a high-backed chair pouring from one container to another. The Devil is a figure with the coma, a face on his torso and a basket on his back with little figures of the damned, one of whom he throws inside with a fork.

The Tower, of which we have only the upper right quarter, shows a clear resemblance to that of the Tarot of Marseilles. You can see the same high round tower, even if the top is not falling; if lightning is about to strike, it has to be in the upper left side of the card. The air is full of the same balls that appear in the Tarot of Marseilles. No human figures can be seen; it seems that the tower protrudes from behind a cow.

Il Bagatto presenta un giovane con un cappellino conico, in piedi accanto a un tavolo su cui sono disposti vari oggetti, e con una verga nella mano sinistra: In the third row, the card is probably the Fool, we can see a figure moving to the right with the stick on his shoulder. The Bagatto shows a young man with a conical hat, standing next to a table on which are placed various objects, and with a rod in his left hand: This card appears much more like its correspondent in the Tarot of Marseilles when we describe in words than in reality.

Anche la Luna assomiglia molto alla carta del Tarocco di Marsiglia. There is a strong similarity between the Star and the version of the card of the Tarot of Marseilles; as in this one, a nude girl is on her knees in a river and pours water from two flasks; above her, there are one [end of ] large star and four much smaller. The only detail missing is the bird on the tree. The Moon is very similar to the card of the Tarot of Marseilles. Under the moon, which has s full face and rays, there are buildings in the middle field and a pool with a crayfish in the foreground; missing are the two dogs and the 'droplets' in the air These 'droplets' can be seen, however, on the Sun, which we have only the right half.

The Sun has a face and rays and, below it, a child is standing naked very probably part of a pair ; there is no trace of a wall. Il Papa non assomiglia per niente alla versione della carta del Tarocco di Marsiglia. You can see very little of the card at the right end of the second row which is, presumably, the Popess: As in the card of the Tarot of Marseilles, the Empress is sitting, holding the shield with the imperial eagle in one hand and a scepter in the other resting on her shoulder.

Her throne has a high rounded back, with the same strange protruding wings appearing on the Tarot of Marseilles. As in the Tarot of Marseilles, the Emperor is portrayed in profile to the left; it differs in that he holds the scepter over his shoulder and the shield in front of him and does not have his legs crossed. The Pope does not look anything like the card version of the Tarot of Marseilles. With a crozier in his hand and a miter on his head, he is standing at an altar, in front of which is a kneeling monk or brother. Fortitude is bareheaded and is standing with her hand on the head of a lion.

Del Carro, scorgiamo solo i due cavalli, che sembrano ritratti di fronte: Lo stesso vale per la Ruota della Fortuna: Of the cards of the top row, we have only the lower halves. From what we can see, Love recalls the corresponding card in the Visconti di Modrone deck, except for the absence of the dog. Of the Chariot, we see only the two horses, which appear depicted frontally: The same applies to the Wheel of Fortune: Questa carta non ha alcuna somiglianza con le carte corrispondenti del Tarocco bolognese, delle Minchiate o del foglio Ro-senwald.

Rassomiglia alquanto a quella del foglio antico ferrarese, ma ne differisce per la mancanza del numero. Lo stesso vale per la Regina di Coppe. Girata a destra, ella tiene un grande calice sul ginocchio destro. La carta rassomiglia anche a quella del Tarocco di Marsiglia. Ma riguardo alla posizione della coppa e alla sua forma, la carta quattrocentesca e quella del Tarocco di Marsiglia coincidono esattamente: The two cards, from the same deck, are the Hermit and the Queen of Cups, which of course exclude a direct comparison with the Cary sheet.

The Hermit is depicted as a bearded, bareheaded old man, his head tilted to the right, wearing a coat over a long robe, a bag suspended from the belt; he progresses from left to right, with a stick in his right hand and a lantern in his left hand. This card has no similarity with the matching cards of the Tarot of Bologna, the Minchiate or Rosenwald sheet. It somewhat resembles that of the old sheet of Ferrara, but differs because of the lack of numbers.

This can be considered the ancestor of the card of the Tarot of Marseilles. The same goes for the Queen of Cups. A crowned lady is sitting on a high back chair similar to that of Temperance of the Cary sheet. Turned to the right, she holds a large cup on her right knee. The card also resembles that of the Tarot of Marseilles. But disregarding the position of the cup and its form, the fifteenth-century card and that of the Tarot of Marseilles coincide exactly, on both cards, the large spherical fluted cup is covered and has a hexagonal base.

There is no reason to doubt that these two cards come from a Milanese deck of the last two decades of the fifteenth century. Un esame accurato del foglio rivela che le due carte numerali non erano originariamente dello stesso foglio, ma sono state aggiunte da un possessore precedente, probabilmente al posto della Morte e dell'Impiccato; dovevano essere tagliate da un altro foglio, ora andato perduto, contenente carte dei semi.

Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign e. Muscle weakness is a symptom shared by all these conditions. The paediatric orthopaedic surgeon must be familiar, not only with the musculoskeletal system, but also with many other domains particularly respiratory and cardiac function and nutrition that may interfere with the treatment and require preoperative management.

Good knowledge of the natural history of each NMD is essential to ensure optimal timing of the therapeutic interventions, which must be performed under the best possible conditions in these usually frail patients. Timing is particularly crucial for the treatment of spinal deformities due to paraspinal muscle hypotonia during growth: A multidisciplinary approach is always required.

Finally, the survival gains achieved in recent years increasingly require attention to preparing for adult life, to orthopaedic problems requiring treatment before the patient leaves the paediatric environment, and to the transition towards the. Motor neuron, nerve, and neuromuscular junction disease.

The aim is to review the most relevant findings published during the last year concerning clinical, genetic, pathogenic, and therapeutic advances in motor neuron disease , neuropathies, and neuromuscular junction disorders. Studies on animal and cell models have improved the understanding of how mutated survival motor neuron protein in spinal muscular atrophy governs the pathogenetic processes.

New phenotypes of SOD1 mutations have been described. Moreover, animal models enhanced the insight into the pathogenetic background of sporadic and familial amyotrophic lateral sclerosis. Novel treatment options for motor neuron disease have been described in humans and animal models. Considerable progress has been achieved also in elucidating the genetic background of many forms of inherited neuropathies and high clinical and genetic heterogeneity has been demonstrated. A third type of autoantibodies Lrp4 has been detected to cause myasthenia gravis.

Advances in the clinical and genetic characterization of motor neuron diseases , neuropathies, and neuromuscular transmission defects have important implications on the fundamental understanding, diagnosis, and management of these disorders. Identification of crucial steps of the pathogenetic process may provide the basis for the development of novel therapeutic strategies. Protein defects in neuromuscular diseases. Directory of Open Access Journals Sweden. Full Text Available Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature.

The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. Mutations in their respective genes are responsible for different forms of neuromuscular diseases. Protein analysis using Western blotting or immunohistochemistry with specific antibodies is of the utmost importance for the differential diagnosis and elucidation of the physiopathology of each genetic disorder involved.

Recent molecular studies have shown clinical inter- and intra-familial variability in several genetic disorders highlighting the importance of other factors in determining phenotypic expression and the role of possible modifying genes and protein interactions. Developmental studies can help elucidate the mechanism of normal muscle formation and thus muscle regeneration. In the last fifteen years, our research has focused on muscle protein expression, localization and possible interactions in patients affected by different forms of muscular dystrophies.

The main objective of this review is to summarize the most recent findings in the field and our own contribution. Palliative care in neuromuscular diseases. Purpose of review Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders NMDs are characterized by progressive muscle weakness, leading to pronounced and incapacitating. Computed tomography of skeletal muscles in neuromuscular disease. CT-documentation of skeletal muscular lesions caused by neuromuscular diseases implies an essential contribution to conventional techniques in the macroscopic field.

Size, distribution and degree of lesions as well as compensatory mechanisms are proved thereby. We report about the different effects on muscle appearance referring to patients of our own experience in amyotrophic lateral sclerosis, spinal muscular atrophy, poliomyelitis, polyradiculitis, polyneuropathy as well as peripheral traumatic nerve lesions. Neuromuscular diseases after cardiac transplantation. Cardiac transplantation is a therapeutic option in end-stage heart failure. Peripheral nervous system PNS disease is known to occur in cardiac transplant recipients but has not been fully characterized.

This retrospective cohort review reports the PNS-related concerns of Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require follow-up by a pediatric respiratory medicine specialist from birth or diagnosis in order to confirm the diagnosis and treat any respiratory complications within a multidisciplinary context. The ventilatory support and the cough assistance have improved the quality of life and long-term survival for many of these patients.

In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper.

Recent advances in antisense oligonucleotide therapy in genetic neuromuscular diseases. Full Text Available Genetic neuromuscular diseases are caused by defective expression of nuclear or mitochondrial genes. Mutant genes may reduce expression of wild-type proteins, and strategies to activate expression of the wild-type proteins might provide therapeutic benefits. Also, a toxic mutant protein may cause cell death, and strategies that reduce mutant gene expression may provide therapeutic benefit.

In recent years, advances in ASO chemistry, creation of designer ASO molecules to enhance their safety and target delivery, and scientific controlled clinical trials to ascertain their therapeutic safety and efficacy have led to an era of plausible application of ASO technology to treat currently incurable neuromuscular diseases.

Anti Cernes Nars Pas Cher Nice

Over the past 1 year, for the first time, the United States Food and Drug Administration has approved two ASO therapies in genetic neuromuscular diseases. This overview summarizes the recent advances in ASO technology, evolution and use of synthetic ASOs as a therapeutic platform, and the mechanism of ASO action by exon-skipping in Duchenne muscular dystrophy and exon-inclusion in spinal muscular atrophy, with comments on their advantages and limitations. Recent achievements in restorative neurology: This book contains 27 chapters.

Some of the chapter titles are: Assessment of Motor Units in Neuromuscular Disease. The motor unit comprises the anterior horn cell, its axon, and the muscle fibers that it innervates. Although the true number of motor units is unknown, the number of motor units appears to vary greatly between different muscles and between different individuals.

Assessment of the number and function of motor units is needed in diseases of the anterior horn cell and other motor nerve disorders. Amyotrophic lateral sclerosis is the most important disease of anterior horn cells. The need for an effective biomarker for assessing disease progression and for use in clinical trials in amyotrophic lateral sclerosis has stimulated the study of methods to measure the number of motor units.

Since a number of different methods, including the incremental, F-wave, multipoint, and statistical methods, have been developed but none has achieved widespread applicability. Two methods MUNIX and the multipoint incremental method are in current use across multiple centres and are discussed in detail in this review, together with other recently published methods.

Imaging with magnetic resonance and ultrasound is increasingly being applied to this area. Motor unit number estimates have also been applied to other neuromuscular diseases such as spinal muscular atrophy, compression neuropathies, and prior poliomyelitis. The need for an objective measure for the assessment of motor units remains tantalizingly close but unfulfilled in Occlusal diseases and posture. Neuromuscular dentistry has been a controversial topic in the field of dentistry and still remains debatable.

The issue of good occlusion and sound health has been repeatedly discussed. Sometimes we get complains of sensitive teeth and sometimes of tired facial muscles on getting up in the morning. Owing to the intimate relation of masticatory apparatus with the cranium and cervico-scapular muscular system, the disorders in any system, draw attention from concerned clinicians involved in management, to develop an integrated treatment protocol for the suffering patients.

There may be patients reporting to the dental clinics after an occlusal restoration or extraction, having pain in or around the temporomandibular joint, headache or neck pain. Very few dentist are able to diagnose the occlusal disease and of those who diagnose many people resort to aggressive treatment modalities. This paper aims to report the signs of occlusal disease , and discuss their association with TMDs and posture. Clinical applications of immunoglobulin in neuromuscular diseases: Full Text Available During recent years, an increasing number of neuromuscular diseases have been recognized either to be caused primarily by autoimmune mechanisms, or to have important autoimmune components.

The involved pathophysiological mechanisms and clinical manifestations have been better recognized and many of these disorders are potentially treatable by immunosuppression or by immunomodulation with intravenous immunoglobulin IVIg. IVIg has been tried in a variety of immune-mediated neurological diseases , being target of widespread use in central and peripheral nervous systems diseases. Objective To give an overview of the main topics regarding the mechanism of action and different therapeutic uses of IVIg in neurological practice, mainly in neuromuscular diseases.

Diverticular Disease of the Colon: Colonic diverticular disease is a frequent finding in daily clinical practice. However, its pathophysiological mechanisms are largely unknown. This condition is likely the result of several concomitant factors occurring together to cause anatomic and functional abnormalities, leading as a result to the outpouching of the colonic mucosa.

A pivotal role seems to be played by an abnormal colonic neuromuscular function, as shown repeatedly in these patients, and by an altered visceral perception. There is recent evidence that these abnormalities might be related to the derangement of the enteric innervation, to an abnormal distribution of mucosal neuropeptides, and to low-grade mucosal inflammation. The latter might be responsible for the development of visceral hypersensitivity, often causing abdominal pain in a subset of these patients. New techniques in the tissue diagnosis of gastrointestinal neuromuscular diseases.

Gastrointestinal neuromuscular diseases are a clinically heterogeneous group of disorders of children and adults in which symptoms are presumed or proven to arise as a result of neuromuscular including interstitial cell of Cajal dysfunction. Common to most of these diseases are symptoms of impaired motor activity which manifest as slowed or obstructed transit with or without evidence of transient or persistent radiological visceral dilatation. A variety of histopathological techniques and allied investigations are being increasingly applied to tissue biopsies from such patients.

This review outlines some of the more recent advances in this field, particularly in the most contentious area of small bowel disease manifesting as intestinal pseudo-obstruction. Neuromuscular exercise as treatment of degenerative knee disease. Exercise is recommended as first-line treatment of degenerative knee disease. Our hypothesis is that neuromuscular exercise is feasible and at least as effective as tradionally used strength or aerobic training, but aims to more closely target the sensorimotor deficiencies and functional Diagnostic value of CT scanning in neuromuscular diseases. The diagnosis of myopathies has become easier since the CT technique is available.

In this article the possibilities of CT for diagnostic procedures of neuromuscular diseases are pointed out.

7725 sleigh coloring pages printable inspiring sleigh coloring pages printable santa on page free

Density measurements increase differentiation of atrophy or hypertrophy of muscles as well as other pathological changes. Imaging of respiratory muscles in neuromuscular disease: Respiratory muscle weakness frequently occurs in patients with neuromuscular disease. Measuring respiratory function with standard pulmonary function tests provides information about the contribution of all respiratory muscles, the lungs and airways. Imaging potentially enables the study of different respiratory muscles, including the diaphragm, separately. In this review, we provide an overview of imaging techniques used to study respiratory muscles in neuromuscular disease.

We identified 26 studies which included a total of patients with neuromuscular disease. Imaging of respiratory muscles was divided into static and dynamic techniques. Static techniques comprise chest radiography, B-mode brightness mode ultrasound, CT and MRI, and are used to assess the position and thickness of the diaphragm and the other respiratory muscles. Dynamic techniques include fluoroscopy, M-mode motion mode ultrasound and MRI, used to assess diaphragm motion in one or more directions.

We discuss how these imaging techniques relate with spirometric values and whether these can be used to study the contribution of the different respiratory muscles in patients with neuromuscular disease. Published by Elsevier B. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases. The development of massively parallel sequencing MPS has revolutionized molecular genetic diagnostics in monogenic disorders.

The present review gives a brief overview of different MPS-based approaches used in clinical diagnostics of neuromuscular disorders NMDs and highlights their advantages and limitations. MPS-based approaches like gene panel sequencing, whole exome sequencing, whole genome sequencing, and RNA sequencing have been used to identify the genetic cause in NMDs. Although gene panel sequencing has evolved as a standard test for heterogeneous diseases , it is still debated, mainly because of financial issues and unsolved problems of variant interpretation, whether genome sequencing and to a lesser extent also exome sequencing of single patients can already be regarded as routine diagnostics.

Next-generation sequencing increasingly enables the detection of the genetic cause in highly heterogeneous diseases like NMDs in an efficient and affordable way. Gene panel sequencing and family-based exome sequencing have been proven as potent and cost-efficient diagnostic tools. Although clinical validation and interpretation of genome sequencing is still challenging, diagnostic RNA sequencing represents a promising tool to bypass some hurdles of diagnostics using genomic DNA.

Magnetic resonance imaging MRI in the diagnosis of neuromuscular diseases. In the last few years imaging procedures became also important in the diagnosis of neuromuscular diseases. We examined more than patients with different neuromuscular diseases with MRI. Conventional diagnostic procedures like EMG, muscle biopsy can not be replaced by imaging procedures. MRI gives the chance to get additional diagnostic informations.

It is possible to determine exact distribution and intensity of pathological changes in the muscle. The resolving power is very high and allows the exact detection of affected areas even in a single muscle. This can help to reduce false negative muscle biopsies. This is very useful in children and young adults.

MRI can be used for the early detection of genetic myopathies and neuropathies. MRI allows to examine all muscles, including the heart, bone artefacts are absent. Heart muscle involvement in neuromuscular diseases can directly be shown by this method without any risk for the patient. In addition P-spectroscopy can be done for better understanding of pathogenesis, especially if the exact distribution of pathological changes is known.

The Dutch neuromuscular disease organisation VSN is studied in depth. A brief history of the VSN is sketched along with the international. Ketogenic Diet in Neuromuscular and Neurodegenerative Diseases. An increasing number of data demonstrate the utility of ketogenic diets in a variety of metabolic diseases as obesity, metabolic syndrome, and diabetes. In regard to neurological disorders, ketogenic diet is recognized as an effective treatment for pharmacoresistant epilepsy but emerging data suggests that ketogenic diet could be also useful in amyotrophic lateral sclerosis, Alzheimer, Parkinson's disease , and some mitochondriopathies.

Although these diseases have different pathogenesis and features, there are some common mechanisms that could explain the effects of ketogenic diets. These mechanisms are to provide an efficient source of energy for the treatment of certain types of neurodegenerative diseases characterized by focal brain hypometabolism; to decrease the oxidative damage associated with various kinds of metabolic stress; to increase the mitochondrial biogenesis pathways; and to take advantage of the capacity of ketones to bypass the defect in complex I activity implicated in some neurological diseases.

These mechanisms will be discussed in this review. Neuromuscular rate of force development deficit in Parkinson disease. Bradykinesia and reduced neuromuscular force exist in Parkinson disease. The interpolated twitch technique has been used to evaluate central versus peripheral manifestations of neuromuscular strength in healthy, aging, and athletic populations, as well as moderate to advanced Parkinson disease , but this method has not been used in mild Parkinson disease.

This study aimed to evaluate quadriceps femoris rate of force development and quantify potential central and peripheral activation deficits in individuals with Parkinson disease. Quadriceps femoris voluntary and stimulated maximal force and rate of force development were evaluated using the interpolated twitch technique. Thirteen participants satisfactorily completed the protocol. No significant differences were found between groups for all other variables.

Persons with mild-to-moderate Parkinson disease display disparities in rate of force development, even without deficits in maximal force. The inability to produce force at a rate comparable to controls is likely a downstream effect of central dysfunction of the motor pathway in Parkinson disease. Published by Elsevier Ltd. Diagnostics of neuromuscular diseases with the aid of computerized tomography. In this article the diagnosis of neuromuscular diseases with the aid of computerized tomography is treated.

Computerized tomography of skeletal muscles give no information which is pathognomonic for particular diseases. But the technique can be used in the following aspects: For some cases as Becker-type muscular dystrophy, facioscapulohumeral dystrophy and Kugelberg-Welander type spinal muscular atrophy computerized tomography gives characteristic images.

Radioimmunoassay of serum myoglobin in neuromuscular diseases. Radioimmunoassay of serum myoglobin was performed in 85 patients with muscular symptoms. All 11 patients with polymyositis had elevated myoglobin concentrations. In six of seven patients with polymyositis, who were followed up with repeated determinations, a clear relationship between myoglobin levels and clinical course was found.

In general serum myoglobin seemed to be a more sensitive indicator of muscle disease than creatine kinase. When they evolve, respiratory complications are common; the six-minute walk test plays an important role in the assessment of functional capacity. We studied seven children with a variety of neuromuscular diseases and spontaneous ambulation.

We tested their lung function, and administered a six-minute walk test and a test of respiratory muscle strength to these children. All patients were males. Forced vital capacity decreased in three patients The distance covered in the six-minute walk test was lower when compared with healthy controls Fatigue in neuromuscular disorders: Hagemans Marloes ; J. Bussmann Hans ; A. Fatigue can be subdivided. For many neuromuscular diseases NMDs , cardiac disease represents a major cause of morbidity and mortality.

The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease -specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure.

Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. Neuromuscular complications of thyrotoxicosis. Thyroid hormones exert multiple effects on the neuromuscular system and the brain, with the most important being their role in stimulating the development and differentiation of the neuromuscular system and brain in foetal and neonatal life.

In the presence of hyperthyroidism, muscular and neurological symptoms may be the presenting clinical features of the disease. The frequency and severity of neuromuscular complications vary considerably and are probably related to the degree of hyperthyroidism, although in some patients the neuromuscular dysfunction is caused by associated disorders rather than by hyperthyroidism per se. This update focuses on the most common neurological and muscular disorders that occur in patients with thyrotoxicosis.

It is beyond the scope of this paper to discuss thyroid eye disease and cardiac complications, in themselves separate complications of specific myocytes. Sugammadex allows a rapid reversal of muscle paralysis.

Sugammadex appears to be safe and well tolerated. Its blood-brain barrier penetration is poor Sugammadex in neurons in primary culture. Studies on the underlying mechanism revealed that sugammadex-induced activation of mitochondria-dependent apoptosis associates with depletion of neuronal cholesterol levels. Potential association of SUG-induced alteration in cholesterol homeostasis with oxidative stress and apoptosis activation occurs.

If invasive ventilation can be avoided by performing noninvasive mechanical ventilation NIV in patients with acute respiratory failure ARF , the disease can be effectively managed. It is important to clarify the characteristics of patients with neuromuscular diseases in whom initial NIV is likely to be unsuccessful. We studied 27 patients in stable neuromuscular condition who initially received NIV to manage fatal ARF to identify differences in factors immediately before the onset of ARF a Sleep-Disordered Breathing in Neuromuscular Disease: Diagnostic and Therapeutic Challenges.

Normal sleep-related rapid eye movement sleep atonia, reduced lung volumes, reduced chemosensitivity, and impaired airway dilator activity become significant vulnerabilities in the setting of neuromuscular disease. In that context, the compounding effects of respiratory muscle weakness and disease -specific features that promote upper airway collapse or cause dilated cardiomyopathy contribute to various sleep-disordered breathing events.

The reduction in lung volumes with neuromuscular disease is further compromised by sleep and the supine position, exaggerating the tendency for upper airway collapse and desaturation with sleep-disordered breathing events. Obstructive and central sleep apneas are also common. Noninvasive ventilation can improve survival and quality of sleep but should be used with caution in the context of dilated cardiomyopathy or significant bulbar symptoms.

Noninvasive ventilation can also trigger sleep-disordered breathing events, including ineffective triggering, autotriggering, central sleep apnea, and glottic closure, which compromise the potential benefits of the intervention by increasing arousals, reducing adherence, and impairing sleep architecture. Polysomnography plays an important diagnostic and therapeutic role by correctly categorizing sleep-disordered events, identifying sleep-disordered breathing triggered by noninvasive ventilation, and improving noninvasive ventilation settings.

Optimal management may require dedicated hypoventilation protocols and a technical staff well versed in the identification and troubleshooting of respiratory events. Published by Elsevier Inc. Evaluation of ventilators for mouthpiece ventilation in neuromuscular disease. Daytime mouthpiece ventilation is a useful adjunct to nocturnal noninvasive ventilation NIV in patients with neuromuscular disease.

The aims of the study were to analyze the practice of mouthpiece ventilation and to evaluate the performance of ventilators for mouthpiece ventilation. Practice of mouthpiece ventilation was assessed by a questionnaire, and the performance of 6 home ventilators with mouthpiece ventilation was assessed in a bench test using 24 different conditions per ventilator: The occurrence of alarms was more common with a large mouthpiece without a filter compared to a small mouthpiece with a filter P ventilator. Subjects are satisfied with mouthpiece ventilation. Alarms are common with home ventilators, although less common in those with mouthpiece ventilation software.

Improvements in home ventilators are needed to facilitate the expansion of mouthpiece ventilation. Computed tomography of the skeletal muscles in neuromuscular diseases. Computed tomographic CT scans of the shoulder girdle, upper arm, waist, pelvic girdle, thigh, and lower leg were obtained in a total of 21 patients with neuromuscular diseases , including 10 with Duchenne muscle dystrophy DMD , 3 with Fukushima type congenital muscular dystrophy FCMD , 3 with Werdnig-Hoffmann's disease WH , 3 with autosomal recessive muscular dystrophy in childhood childhood MC , one with nemaline myopathy NM , and one with myositis ossificans circumscripta MOC.

Age-dependent changes in CT findings were examined in the 10 DMD patients ranging in age from 3 to 15 years. Each muscle of the shoulder girdle and upper arm was seen as a low density area on CT in patients 9 years of age when the arms are difficult to elevate. Changes in the m. CT scans of the thigh was thus considered most useful in diagnosing DMD. CT scans of the lower leg showed low density areas in the m. High density areas were seen along the fascia of the trunk in MOC patients. Biochemistry of Neuromuscular Diseases: A Course for Undergraduate Students. This article outlines an undergraduate course focusing on supramolecular membrane protein complexes involved in the molecular pathogenesis of neuromuscular disorders.

The emphasis of this course is to introduce students to the key elements involved in the ion regulation and membrane stabilization during muscle contraction and the role of these…. Neuromuscular disease and respiratory physiology in children: Neuromuscular diseases represent a heterogeneous group of disorders of the muscle, nerve or neuromuscular junction. The respiratory muscles are rarely spared in neuromuscular diseases even if the type of muscle involvement, severity and time course greatly varies among the different diseases.

Diagnosis of respiratory muscle weakness is crucial because of the importance of respiratory morbidity and mortality. Presently, routine respiratory evaluation is based on non-invasive volitional tests, such as the measurement of lung volumes, spirometry and the maximal static pressures, which may be difficult or impossible to obtain in some young children. Other tools or parameters are thus needed to assess the respiratory muscle weakness and its consequences in young children.

The measurement of oesogastric pressures can be helpful as they allow the diagnosis and quantification of paradoxical breathing, as well as the assessment of the strength of the inspiratory and expiratory muscles by means of the oesophageal pressure during a maximal sniff and of the gastric pressure during a maximal cough.

Sleep assessment should also be part of the respiratory evaluation of children with neuromuscular disease with at least the recording of nocturnal gas exchange if polysomnography is not possible or unavailable. This improvement in the assessment of respiratory muscle performance may increase our understanding of the respiratory pathophysiology of the different neuromuscular diseases , improve patient care, and guide research and innovative therapies by identifying and validating respiratory parameters.

The extremity function index EFI , a disability severity measure for neuromuscular diseases: To adapt and to combine the self-report Upper Extremity Functional Index and Lower Extremity Function Scale, for the assessment of disability severity in patients with a neuromuscular disease and to examine its psychometric properties in order to make it suitable for indicating disease. Feeding and swallowing problems in infants and children have a great impact on health and wellbeing.

The aim of this study was to provide an overview of recognized feeding and swallowing problems in different groups of children with neuromuscular diseases , based on relevant literature and expert opinion, and to propose recommendations for the assessment and treatment of these problems. Almost all pediatric neuromuscular diseases are accompanied by feeding and swallowing problems during the different phases of deglutition, problems that give rise to a wide variety of signs and symptoms, which emphasizes the importance of a comprehensive feeding and swallowing assessment by a speech and language therapist.

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases. Knuijt, Simone; Kalf, Johanna G. Literature regarding prevalence rates of dysarthria and dysphagia is scarce. The purpose of this study was to determine prevalence rates, severity and co-presence of dysarthria and dysphagia in adult. Introduction A qualitative study was carried out to understand how people with a slow progressive adult type neuromuscular disease NMD perceive employment participation.

Methods 16 paid employed persons with NMD were interviewed in open, in-depth interviews. Data were analyzed using the constant. To evaluate the long term effects of home mechanical ventilation HMV on pulmonary function, nighttime gas exchange, daytime arterial blood gases, sleep architecture and functional exercise capacity 6 min walk.

Patients with respiratory failure attributable to thoracic restrictive disease TRD kyphoscoliosis or neuromuscular disease NMD were assessed, ventilated, trained and followed in a dedicated unit for the care of patients requiring long term ventilation. This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy.

In clinicians from 22 centers in 18 countries reported 1, spinal muscular atrophy type 1 SMA1 , Duchenne muscular dystrophy DMD , and amyotrophic lateral sclerosis users of noninvasive ventilatory support NVS of whom required it continuously CNVS. The CNVS sustained their lives by over 3, patient-years without resort to indwelling tracheostomy tubes. Patients with myopathic or lower motor neuron disorders can be managed noninvasively by up to CNVS, indefinitely, despite having little or no measurable vital capacity, with the use of physical medicine respiratory muscle aids.

Ventilator-dependent patients can be decannulated of their tracheostomy tubes. Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: A comprehensive review of the literature.

Edward ; Geberhiwot, T. Tarekegn ; Hughes, D. Derralynn ; Kissel, J. David ; Polkey, M. Roberts Mark ; H. Tiddens Harm ; Young, P. Maximal inspiratory pressure MIP , a sensitive measure of respiratory muscle. We studied 27 patients in stable neuromuscular condition who initially received NIV to manage fatal ARF to identify differences in factors immediately before the onset of ARF among patients who receive continuous NIV support, patients who are switched from NIV to invasive ventilation, and patients in whom NIV is discontinued.

Endpoints were evaluated 24 and 72 hours after the initiation of NIV. NIV may be attempted to manage acute fatal respiratory failure associated with neuromuscular diseases , but clinicians should carefully manage the clinical course in patients with ALS. Risk of unsuccessful noninvasive ventilation for acute respiratory failure in heterogeneous neuromuscular diseases: Full Text Available If invasive ventilation can be avoided by performing noninvasive mechanical ventilation NIV in patients with acute respiratory failure ARF, the disease can be effectively managed.

Therapeutic efficacy of neuromuscular electrical stimulation and electromyographic biofeedback on Alzheimer's disease patients with dysphagia. To study the therapeutic effect of neuromuscular electrical stimulation and electromyographic biofeedback EMG-biofeedback therapy in improving swallowing function of Alzheimer's disease patients with dysphagia. The mini-mental state scale score was performed in all patients along the treatment period. Twelve weeks after the treatment, the swallowing function was assessed by the water swallow test.

The nutritional status was evaluated by Mini Nutritional Assessment MNA as well as the levels of hemoglobin and serum albumin.

The frequency and course of aspiration pneumonia were also recorded. No significant difference on mini-mental state scale score was noted between 2 groups. More improvement of swallowing function, better nutritional status, and less frequency and shorter course of aspiration pneumonia were presented in treatment group when compared with the control group. Neuromuscular electrical stimulation and EMG-biofeedback treatment can improve swallowing function in patients with Alzheimer's disease and significantly reduce the incidence of adverse outcomes.

Thus, they should be promoted in clinical practice. Neuromuscular disease mimicking myasthenia gravis in a Nigerian Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management Role of non-invasive ventilation in difficult-to-wean children with acute neuromuscular disease.

Weaning from mechanical ventilation in children could be time-consuming and on many occasions, leads to reintubation with its associate complications. We report two children with acute neuromuscular disease , in whom bi-level positive airway pressure BiPAP as a mode of non-invasive ventilation was successfully used to wean the child from ventilators and prevented the need for tracheostomy.

Despite the limited number of studies published in the literature suggesting BiPAP as a mode of weaning from mechanical ventilation, the technique when applied correctly seems to be safe and effective in weaning and avoiding tracheostomy. Impact of neuromuscular electrical stimulation on functional capacity of patients with chronic kidney disease on hemodialysis. Literature shows that patients undergoing hemodialysis present poor physical conditioning and low tolerance to exercise.

They may also suffer from respiratory dysfunctions. The purpose of this study was to evaluate the effects of neuromuscular electrical stimulation on pulmonary function and functional capacity of patients with chronic kidney disease on hemodialysis. The treatment group underwent bilateral femoral quadriceps muscles electrical stimulation for 30 minutes during hemodialysis, three times per week, for two months. The patients were evaluated by pulmonary function test, maximum respiratory pressures, maximum one-repetition test, and six-minute walk test 6MWT , before and after the treatment protocol.

In addition, it is based on Medline and on the review of the most recent numbers of Neuromuscular Disorders, the official journal of the World Muscle Society. Summary of the findings: Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available. MRI in neuromuscular disorders. Neuromuscular disorders are caused by damage of the skeletal muscles or supplying nerves, in many cases due to a genetic defect, resulting in progressive disability, loss of ambulation and often a reduced life expectancy.

Previously only supportive care and steroids were available as treatments, but several novel therapies are under development or in clinical trial phase. Muscle imaging can detect specific patterns of involvement and facilitate diagnosis and guide genetic testing.

Quantitative MRT can be used to monitor disease progression either to monitor treatment or as a surrogate parameter for clinical trails. Novel imaging sequences can provide insights into disease pathology and muscle metabolism. Management of neuromuscular diseases and spinal muscular atrophy in Latin America. In LA, patients with inherited neuromuscular diseases NMDs often do not have access to specialized medical centers and many of them go undiagnosed.

General management and care of spinal muscular dystrophy SMA patients in the region varies due to heterogeneous health care. An active generation of young clinical neurologists is being trained for the specialized care of SMA and other neuromuscular NM patients, both in the private and public sectors. Different regional academic-scientific organizations as well as the expanding number of telethon centers and the creation of parent organizations, mostly concerning SMA, all together are contributing to the increased quality of the management of NMD patients.

Over the past years, academic and clinical research, as well as the establishment of qualified centers for the molecular testing of NMD are pushing forward the creation of patient registries and the development of specific clinical trials, with Argentina and Brazil having a major role in this field. Nevertheless, increased awareness and further training of specialized health professionals are necessary to reach patients that are currently lacking care throughout the region. Injection of a soluble fragment of neural agrin NT considerably improves the muscle pathology caused by the disassembly of the neuromuscular junction.

Full Text Available Treatment of neuromuscular diseases is still an unsolved problem. Evidence over the last years strongly indicates the involvement of malformation and dysfunction of neuromuscular junctions in the development of such medical conditions. Stabilization of NMJs thus seems to be a promising approach to attenuate the disease progression of muscle wasting diseases. We also show that injection of NT accelerates muscle re-innervation after nerve crush.

This report demonstrates that a systemically administered agrin fragment has the potential to counteract the symptoms of neuromuscular disorders. Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: To determine the number of employed people in a group of patients with neuromuscular diseases and in 3 separate subgroups facioscapulo-humeral dystrophy, hereditary motor and sensory neuropathy, and myotonic dystrophy to investigate any differences in employment status between the patient groups,.

To determine the number of employed people in a group of patients with neuromuscular diseases and in 3 separate subgroups facioscapulo-humeral dystrophy, hereditary motor and sensory neuropathy, and myotonic dystrophy to investigate any differences in employment status between the.

Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable. Therefore careful pre- and post-test genetic counseling and psychosocial support should be provided along with such genetic testing. The Division of Clinical and Molecular Genetics was established at our hospital in May to provide skilled professional genetic counseling.

Since its establishment, 14 individuals have visited our clinic to request predictive genetic testing for hereditary neuromuscular diseases 4 for myotonic dystrophy, 6 for spinocerebellar ataxia, 3 for Huntington's disease , and 1 for Alzheimer's disease. The main reasons for considering testing were to remove uncertainty about the genetic status and to plan for the future.

Nine of 14 individuals requested testing for making decisions about a forthcoming marriage or pregnancy family planning. Other reasons raised by the individuals included career or financial planning, planning for their own health care, and knowing the risk for their children. At the first genetic counseling session, all of the individuals expressed hopes of not being a gene carrier and of escaping from fear of disease , and seemed not to be mentally well prepared for an increased-risk result.

To date, 7 of the 14 individuals have received genetic testing and only one, who underwent predictive genetic testing for spinocerebellar ataxia, was given an increased-risk result. The seven individuals including the one with an increased-risk result, have coped well with their new knowledge about their genetic status after the testing results were disclosed.

None of them has expressed regret. Neuromuscular electrical stimulation improves exercise tolerance in chronic obstructive pulmonary disease patients with better preserved fat-free mass. High-frequency neuromuscular electrical stimulation increases exercise tolerance in patients with advanced chronic obstructive pulmonary disease COPD patients. However, it is conceivable that its benefits are more prominent in patients with better-preserved peripheral muscle function and structure. To investigate the effects of high-frequency neuromuscular electrical stimulation in COPD patients with better-preserved peripheral muscle function.

Prospective and cross-over study. Thirty COPD patients were randomly assigned to either home-based, high-frequency neuromuscular electrical stimulation or sham stimulation for six weeks. The training intensity was adjusted according to each subject's tolerance. Fat-free mass, isometric strength, six-minute walking distance and time to exercise intolerance Tlim were assessed. Responders had a higher baseline fat-free mass and six-minute walking distance than their seventeen These data suggest that early training with high-frequency neuromuscular electrical stimulation before tissue wasting begins might enhance exercise tolerance in patients with less advanced COPD.

Prenatal molecular diagnosis of inherited neuromuscular diseases: Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases , i. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time.

Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres. Neuromuscular junctions are primary pathological targets in the lethal motor neuron diseases spinal muscular atrophy SMA and amyotrophic lateral sclerosis ALS.

Synaptic pathology and denervation of target muscle fibers has been reported prior to the appearance of clinical symptoms in mouse models of both diseases , suggesting that neuromuscular junctions are highly vulnerable from the very early stages, and are a key target for therapeutic intervention. Here we examined neuromuscular pathology longitudinally in three clinically relevant muscle groups in mouse models of ALS and SMA in order to assess their relative vulnerabilities. We show for the first time that neuromuscular junctions of the extraocular muscles responsible for the control of eye movement were resistant to degeneration in endstage SMA mice, as well as in late symptomatic ALS mice.

Tongue muscle neuromuscular junctions were also spared in both animal models. Thus, the pattern of selective vulnerability was conserved across these two models of motor neuron disease. However, the first evidence of neuromuscular pathology occurred at different timepoints of disease progression, with much earlier evidence of presynaptic involvement in ALS, progressing to changes on the postsynaptic side.

Conversely, in SMA changes appeared concomitantly at the neuromuscular junction, suggesting that mechanisms of neuromuscular disruption are distinct in these diseases. Symptoms and Causes of Celiac Disease. Most people with celiac disease have one or Why are celiac disease symptoms so varied? Symptoms of celiac disease vary from The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation NIV application in different neuromuscular disease NMD groups. Home monitoring of daytime mouthpiece ventilation effectiveness in patients with neuromuscular disease.

Mouthpiece ventilation MPV allows patients with neuromuscular disease to receive daytime support from a portable ventilator, which they can disconnect at will, for example, for speaking, eating, swallowing, and coughing. However, MPV carries a risk of underventilation. Our purpose here was to evaluate the effectiveness of daytime MPV under real-life conditions. Eight wheelchair-bound patients who used MPV underwent daytime polygraphy at home with recordings of airflow, mouthpiece pressure, thoracic and abdominal movements, peripheral capillary oxygen saturation SpO2 , and transcutaneous partial pressure of carbon dioxide PtcCO2.

Times and durations of tasks and activities were recorded. Patient—ventilator asynchrony events were analyzed. The most common type of patient—ventilator asynchrony was ineffective effort. This study confirms that MPV can be effective as long as the patient remains connected to the mouthpiece. However, transient arterial oxygen desaturation and hypercapnia due to disconnection from the ventilator may occur, without inducing unpleasant sensations in the patients.

Therefore, an external warning system based on a minimal acceptable value of minute ventilation would probably be useful. The "hospital-at-home" model may provide adequate care without an adverse effect on clinical outcome, and is generally well received by users. Our objective was to compare hospital-at-home and in-patient hospital care for neuromuscular disease NMD patients with respiratory tract infections.

We conducted a prospective randomized controlled trial in a university teaching hospital offering secondary care service to a population of approximately , We recruited selected NMD patients with respiratory tract infection for whom hospital admission had been recommended after medical assessment. Hospital-at-home was provided as an alternative to in-patient admission. The main outcome measures were need for hospitalization, treatment failure, time to recovery, death during the first 3 months following exacerbation, and cost of patient care.

Among 59 consecutive NMD patients eligible for the study, 53 met the criteria for hospital-at-home. Twenty-six subjects were randomized to home care and 27 to hospital care.

The total and daily direct cost of patient healthcare was significantly lower for the subjects who were successfully treated at home, compared to the hospitalized individuals. Hospital-at-home is an effective alternative to hospital admission for selected NMD patients with respiratory tract infections.

Sonographically guided percutaneous muscle biopsy in diagnosis of neuromuscular disease: The purpose of this study was to evaluate the feasibility of sonographically guided percutaneous muscle biopsy in the investigation of neuromuscular disorders. Sonographically guided percutaneous needle biopsy of skeletal muscle was performed with a gauge core biopsy system in 40 patients over a month period. Patients were referred from the Department of Neurology under investigation for neuromuscular disorders. Sonography was used to find suitable tissue and to avoid major vascular structures.

A local anesthetic was applied below skin only. A 3- to 4-mm incision was made.

Three gauge samples were obtained from each patient. All samples were placed on saline-dampened gauze and sent for neuropathologic analysis. As a control, we retrospectively assessed results of the 40 most recent muscle samples acquired via open surgical biopsy. Sonographically guided percutaneous gauge core skeletal muscle biopsy is a useful procedure, facilitating diagnosis in acute muscular disease.

It provides results comparable with those of open surgical biopsy in acute muscular disease. It may also be used in chronic muscular disease but repeated or open biopsy may be needed. Attitudes and expectations of patients with neuromuscular diseases about their participation in a clinical trial. This study aimed to gain a better understanding of the psychological impact of participating in a clinical trial for patients with Pompe disease Acid Maltase Deficiency.

Attitudes and expectations of adult patients with neuromuscular diseases regarding medical trials are as yet unreported. In order to learn about the psychological consequences of participating in a clinical trial, we conducted a prospective assessment of patients with late-onset Pompe Disease , a rare genetic condition, for which no treatment had been available before. This psychological study was carried out as an ancillary study to the randomized double-blind placebo-controlled trial described elsewhere van der Ploeg et al.

S-self-report and locus of control IPC Levenson. We produced a self-administered questionnaire in order to assess the attitudes, motivations and expectations of patients during the trial. The quality of life of patients Whoqol remained unchanged. Throughout the study, patients were more likely to have an internal locus of control than an external one IPC Levenson. The self-administered questionnaire showed that patients' expectations were disproportionate compared to the medical information they had received starting the trial.

For all patients, the first motivation for being enrolled in a clinical trial was "to help research", for half of them the motivation was to "improve their health".

• Dirty Gay Shorts: The Hottest in Gay Erotic Fiction
• Latin Americas Neo-Reformation: Religions Influence on Contemporary Politics (Latin American Studies: Social Sciences and Law)
• Lalphabet des petites bêtes (Mon premier alphabet) (French Edition)
• Revue des Deux Mondes septembre 2013: Vers une nouvelle civilisation (French Edition)
• Skinwalkers