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Sample records for severe neuromuscular disease

  1. The extremity function index (EFI), a disability severity measure for neuromuscular diseases : psychometric evaluation

    NARCIS (Netherlands)

    Bos, Isaac; Wynia, Klaske; Drost, Gea; Almansa, Josué; Kuks, Joannes

    2017-01-01

    OBJECTIVE: 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

  2. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  3. Neuromuscular disease classification system

    Science.gov (United States)

    Sáez, Aurora; Acha, Begoña; Montero-Sánchez, Adoración; Rivas, Eloy; Escudero, Luis M.; Serrano, Carmen

    2013-06-01

    Diagnosis of neuromuscular diseases is based on subjective visual assessment of biopsies from patients by the pathologist specialist. A system for objective analysis and classification of muscular dystrophies and neurogenic atrophies through muscle biopsy images of fluorescence microscopy is presented. The procedure starts with an accurate segmentation of the muscle fibers using mathematical morphology and a watershed transform. A feature extraction step is carried out in two parts: 24 features that pathologists take into account to diagnose the diseases and 58 structural features that the human eye cannot see, based on the assumption that the biopsy is considered as a graph, where the nodes are represented by each fiber, and two nodes are connected if two fibers are adjacent. A feature selection using sequential forward selection and sequential backward selection methods, a classification using a Fuzzy ARTMAP neural network, and a study of grading the severity are performed on these two sets of features. A database consisting of 91 images was used: 71 images for the training step and 20 as the test. A classification error of 0% was obtained. It is concluded that the addition of features undetectable by the human visual inspection improves the categorization of atrophic patterns.

  4. [Respiratory treatments in neuromuscular disease].

    Science.gov (United States)

    Martínez Carrasco, C; Cols Roig, M; Salcedo Posadas, A; Sardon Prado, O; Asensio de la Cruz, O; Torrent Vernetta, A

    2014-10-01

    In a previous article, a review was presented of the respiratory pathophysiology of the patient with neuromuscular disease, as well as their clinical evaluation and the major complications causing pulmonary deterioration. This article presents the respiratory treatments required to preserve lung function in neuromuscular disease as long as possible, as well as in special situations (respiratory infections, spinal curvature surgery, etc.). Special emphasis is made on the use of non-invasive ventilation, which is changing the natural history of many of these diseases. The increase in survival and life expectancy of these children means that they can continue their clinical care in adult units. The transition from pediatric care must be an active, timely and progressive process. It may be slightly stressful for the patient before the adaptation to this new environment, with multidisciplinary care always being maintained. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  5. Protein defects in neuromuscular diseases

    Directory of Open Access Journals (Sweden)

    Vainzof M.

    2003-01-01

    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. In recent years, several proteins from the sarcolemmal muscle membrane (dystrophin, sarcoglycans, dysferlin, caveolin-3, from the extracellular matrix (alpha2-laminin, collagen VI, from the sarcomere (telethonin, myotilin, titin, nebulin, from the muscle cytosol (calpain 3, TRIM32, from the nucleus (emerin, lamin A/C, survival motor neuron protein, and from the glycosylation pathway (fukutin, fukutin-related protein have been identified. 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.

  6. Neuromuscular diseases: Diagnosis and management.

    Science.gov (United States)

    Mary, P; Servais, L; Vialle, R

    2018-02-01

    Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD. The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophies, and Steinert myotonic dystrophy (or myotonic dystrophy type 1). 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: depending on the disease and natural history, the treatment may involve non-operative methods or growing rods, followed by spinal fusion. 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

  7. Palliative care in neuromuscular diseases

    NARCIS (Netherlands)

    de Visser, Marianne; Oliver, David J.

    2017-01-01

    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

  8. Neuromuscular diseases after cardiac transplantation

    NARCIS (Netherlands)

    Mateen, Farrah J.; van de Beek, Diederik; Kremers, Walter K.; Daly, Richard C.; Edwards, Brooks S.; McGregor, Christopher G. A.; Wijdicks, Eelco F. M.

    2009-01-01

    BACKGROUND: 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. METHODS: This retrospective cohort review reports the PNS-related concerns of 313

  9. Motor neuron, nerve, and neuromuscular junction disease.

    Science.gov (United States)

    Finsterer, Josef; Papić, Lea; Auer-Grumbach, Michaela

    2011-10-01

    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. Mutations in MuSK and GFTP1 have been shown to cause new types of congenital myasthenic syndromes. 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.

  10. Recent achievements in restorative neurology: Progressive neuromuscular diseases

    International Nuclear Information System (INIS)

    Dimitrijevic, M.R.; Kakulas, B.A.; Vrbova, G.

    1986-01-01

    This book contains 27 chapters. Some of the chapter titles are: Computed Tomography of Muscles in Neuromuscular Disease; Mapping the Genes for Muscular Dystrophy; Trophic Factors and Motor Neuron Development; Size of Motor Units and Firing Rate in Muscular Dystrophy; Restorative Possibilities in Relation to the Pathology of Progressive Neuromuscular Disease; and An Approach to the Pathogenesis of some Congenital Myopathies

  11. Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

    Science.gov (United States)

    2015-08-24

    Spinal Muscular Atrophy; Charcot-Marie-Tooth Disease; Muscular Dystrophy; Spinal Muscular Atrophy With Respiratory Distress 1; Amyotrophic Lateral Sclerosis; Motor Neuron Disease; Neuromuscular Disease; Peroneal Muscular Atrophy; Fragile X Syndrome

  12. Assessment of Motor Units in Neuromuscular Disease.

    Science.gov (United States)

    Henderson, Robert D; McCombe, Pamela A

    2017-01-01

    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 1970 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 2016.

  13. Neuromuscular dentistry: Occlusal diseases and posture.

    Science.gov (United States)

    Khan, Mohd Toseef; Verma, Sanjeev Kumar; Maheshwari, Sandhya; Zahid, Syed Naved; Chaudhary, Prabhat K

    2013-01-01

    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. Although their esthetic demands must not be undermined during the course of treatment plan, whenever dental treatment of any sort is planned, occlusion/bite should be given prime importance. 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.

  14. New techniques in the tissue diagnosis of gastrointestinal neuromuscular diseases

    Institute of Scientific and Technical Information of China (English)

    Charles H Knowles; Joanne E Martin

    2009-01-01

    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.

  15. Diverticular Disease of the Colon: Neuromuscular Function Abnormalities.

    Science.gov (United States)

    Bassotti, Gabrio; Villanacci, Vincenzo; Bernardini, Nunzia; Dore, Maria P

    2016-10-01

    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.

  16. Neuromuscular disease and respiratory physiology in children: putting lung function into perspective.

    Science.gov (United States)

    Fauroux, Brigitte; Khirani, Sonia

    2014-08-01

    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. © 2014 Asian Pacific Society of Respirology.

  17. Neuromuscular exercise as treatment of degenerative knee disease

    DEFF Research Database (Denmark)

    Ageberg, Eva; Roos, Ewa M.

    2015-01-01

    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...... instability associated with the degenerative knee disease than traditionally used training methods.SUMMARY FOR TABLE OF CONTENTS PAGECurrent data suggests that the effect from neuromuscular exercise on pain and function is comparable to the effects seen from other forms of exercise....

  18. Sever's Disease

    Science.gov (United States)

    ... boys 10 years to 12 years of age. Soccer players and gymnasts often get Sever’s disease, but ... Crisis Situations Pets and Animals myhealthfinder Food and Nutrition Healthy Food Choices Weight Loss and Diet Plans ...

  19. Diagnostic value of CT scanning in neuromuscular diseases

    International Nuclear Information System (INIS)

    Bulcke, J.A.L.; Leuven Univ.; Herpels, V.

    1983-01-01

    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. Density measurements increase differentiation of atrophy or hypertrophy of muscles as well as other pathological changes. (orig.)

  20. Imaging of respiratory muscles in neuromuscular disease: A review.

    Science.gov (United States)

    Harlaar, L; Ciet, P; van der Ploeg, A T; Brusse, E; van der Beek, N A M E; Wielopolski, P A; de Bruijne, M; Tiddens, H A W M; van Doorn, P A

    2018-03-01

    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 573 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. Copyright © 2017. Published by Elsevier B.V.

  1. Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

    NARCIS (Netherlands)

    Knuijt, Simone; Kalf, Johanna G.; de Swart, Bert J. M.; Drost, Gea; Hendricks, Henk T.; Geurts, Alexander C. H.; van Engelen, Baziel G. M.

    2014-01-01

    Purpose: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. 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

  2. Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

    NARCIS (Netherlands)

    Knuijt, S.; Kalf, J.G.; Swart, B.J. de; Drost, G.; Hendricks, H.T.; Geurts, A.C.; Engelen, B.G.M. van

    2014-01-01

    PURPOSE: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. 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

  3. Magnetic resonance imaging (MRI) in the diagnosis of neuromuscular diseases

    International Nuclear Information System (INIS)

    Schalke, B.C.G.; Rohkamm, R.; Kaiser, W.

    1990-01-01

    In the last few years imaging procedures became also important in the diagnosis of neuromuscular diseases. We examined more than 150 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. Inflammatory muscle diseases can be differrentiated by T1/T2 values from atrophic/dystrophic diseases. 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. (author)

  4. [Neuromuscular disease: respiratory clinical assessment and follow-up].

    Science.gov (United States)

    Martínez Carrasco, C; Villa Asensi, J R; Luna Paredes, M C; Osona Rodríguez de Torres, F B; Peña Zarza, J A; Larramona Carrera, H; Costa Colomer, J

    2014-10-01

    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. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  5. Computed tomography of skeletal muscles in neuromuscular disease

    International Nuclear Information System (INIS)

    Rodiek, S.O.; Kuether, G.; Muenchen Univ.

    1985-01-01

    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 106 patients of our own experience in amyotrophic lateral sclerosis, spinal muscular atrophy, poliomyelitis, polyradiculitis, polyneuropathy as well as peripheral traumatic nerve lesions. (orig.) [de

  6. Computed tomography of skeletal muscles in neuromuscular disease

    Energy Technology Data Exchange (ETDEWEB)

    Rodiek, S.O.; Kuether, G.

    1985-06-01

    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 106 patients of our own experience in amyotrophic lateral sclerosis, spinal muscular atrophy, poliomyelitis, polyradiculitis, polyneuropathy as well as peripheral traumatic nerve lesions.

  7. Recent advances in antisense oligonucleotide therapy in genetic neuromuscular diseases

    Directory of Open Access Journals (Sweden)

    Ashok Verma

    2018-01-01

    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. Synthetic antisense oligonucleotide (ASO can recognize cellular RNA and control gene expression. 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. 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.

  8. The role of patient advocacy organisations in neuromuscular disease R&D - The case of the Dutch neuromuscular disease association VSN

    NARCIS (Netherlands)

    Boon, W.P.C.; Broekgaarden, R.

    2010-01-01

    This article investigates to what extent patient advocacy organisations play a role in influencing R&D and policymaking for rare neuromuscular diseases. The Dutch neuromuscular disease organisation VSN is studied in depth. A brief history of the VSN is sketched along with the international

  9. Ketogenic Diet in Neuromuscular and Neurodegenerative Diseases

    Science.gov (United States)

    Damiani, Ernesto; Bosco, Gerardo

    2014-01-01

    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. PMID:25101284

  10. Neuromuscular rate of force development deficit in Parkinson disease.

    Science.gov (United States)

    Hammond, Kelley G; Pfeiffer, Ronald F; LeDoux, Mark S; Schilling, Brian K

    2017-06-01

    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. Nine persons with mild Parkinson Disease (Hoehn & Yahr≤2, Unified Parkinson Disease Rating Scale total score=mean 19.1 (SD 5.0)) and eight age-matched controls were recruited in a cross-sectional investigation. 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. Individuals with early Parkinson disease (n=7) had significantly slower voluntary rate of force development (p=0.008; d=1.97) and rate of force development ratio (p=0.004; d=2.18) than controls (n=6). 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. Copyright © 2017. Published by Elsevier Ltd.

  11. Diagnostics of neuromuscular diseases with the aid of computerized tomography

    Energy Technology Data Exchange (ETDEWEB)

    Visser, M de; Verbeeten, Jr, B J

    1988-06-04

    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: to choose a muscle for a biopsy; when it is not possible to examine the function of a muscle, a CT scan can visualize morphological deviations; in the differentiation of muscle hypertrophy and pseudo-hypertrophy. For some cases as Becker-type muscular dystrophy, facioscapulohumeral dystrophy and Kugelberg-Welander type spinal muscular atrophy computerized tomography gives characteristic images. 10 refs.; 6 figs.

  12. Diagnostics of neuromuscular diseases with the aid of computerized tomography

    International Nuclear Information System (INIS)

    Visser, M. de; Verbeeten, B.J. Jr.

    1988-01-01

    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: to choose a muscle for a biopsy; when it is not possible to examine the function of a muscle, a CT scan can visualize morphological deviations; in the differentiation of muscle hypertrophy and pseudo-hypertrophy. For some cases as Becker-type muscular dystrophy, facioscapulohumeral dystrophy and Kugelberg-Welander type spinal muscular atrophy computerized tomography gives characteristic images. 10 refs.; 6 figs

  13. Radioimmunoassay of serum myoglobin in neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Askmark, H; Osterman, P O; Roxin, L E; Venge, P [University Hospital, Uppsala (Sweden)

    1981-01-01

    Radioimmunoassay of serum myoglobin was performed in 85 patients with muscular symptoms. Elevated levels were found in 93% of patients with myogenic myopathy, in 54% with myasthenia gravis and in 50% with neurogenic myopathy. 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.

  14. Radioimmunoassay of serum myoglobin in neuromuscular diseases

    International Nuclear Information System (INIS)

    Askmark, H.; Osterman, P.O.; Roxin, L.-E.; Venge, P.

    1981-01-01

    Radioimmunoassay of serum myoglobin was performed in 85 patients with muscular symptoms. Elevated levels were found in 93% of patients with myogenic myopathy, in 54% with myasthenia gravis and in 50% with neurogenic myopathy. 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. (author)

  15. [Six-minute walk test in children with neuromuscular disease.

    Science.gov (United States)

    Cruz-Anleu, Israel Didier; Baños-Mejía, Benjamín Omar; Galicia-Amor, Susana

    2013-01-01

    Background: neuromuscular diseases affect the motor unit. When they evolve, respiratory complications are common; the six-minute walk test plays an important role in the assessment of functional capacity. Methods: prospective, transversal, descriptive and observational study. 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. Results: the age was 9.8 ± 2.4 years. All patients were males. Forced vital capacity decreased in three patients (42.8 %), forced expiratory volume during the first second (2.04 ± 1.4 L) and peak expiratory flow (4.33 ± 3.3 L/s) were normal. The maximum strength of respiratory muscles was less than 60 % of predicted values. The distance covered in the six-minute walk test was lower when compared with healthy controls (29.9 %). Conclusions: the six-minute walk test can be a useful tool in early stages of this disease, since it is easy to perform and well tolerated by the patients.

  16. The association between knee joint biomechanics and neuromuscular control and moderate knee osteoarthritis radiographic and pain severity.

    Science.gov (United States)

    Astephen Wilson, J L; Deluzio, K J; Dunbar, M J; Caldwell, G E; Hubley-Kozey, C L

    2011-02-01

    The objective of this study was to determine the association between biomechanical and neuromuscular factors of clinically diagnosed mild to moderate knee osteoarthritis (OA) with radiographic severity and pain severity separately. Three-dimensional gait analysis and electromyography were performed on a group of 40 participants with clinically diagnosed mild to moderate medial knee OA. Associations between radiographic severity, defined using a visual analog radiographic score, and pain severity, defined with the pain subscale of the WOMAC osteoarthritis index, with knee joint kinematics and kinetics, electromyography patterns of periarticular knee muscles, BMI and gait speed were determined with correlation analyses. Multiple linear regression analyses of radiographic and pain severity were also explored. Statistically significant correlations between radiographic severity and the overall magnitude of the knee adduction moment during stance (r²=21.4%, P=0.003) and the magnitude of the knee flexion angle during the gait cycle (r²=11.4%, P=0.03) were found. Significant correlations between pain and gait speed (r²=28.2%, Pjoint biomechanical variables are associated with structural knee OA severity measured from radiographs in clinically diagnosed mild to moderate levels of disease, but that pain severity is only reflected in gait speed and neuromuscular activation patterns. A combination of the knee adduction moment and BMI better explained structural knee OA severity than any individual factor alone. Copyright © 2010 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

  17. Fatigue in neuromuscular disorders: Focus on Guillain-Barré syndrome and Pompe disease

    NARCIS (Netherlands)

    J.M. de Vries (Juna); M.L.C. Hagemans (Marloes); J.B.J. Bussmann (Hans); A.T. van der Ploeg (Ans); P.A. van Doorn (Pieter)

    2010-01-01

    textabstractFatigue accounts for an important part of the burden experienced by patients with neuromuscular disorders. Substantial high prevalence rates of fatigue are reported in a wide range of neuromuscular disorders, such as Guillain-Barré syndrome and Pompe disease. Fatigue can be subdivided

  18. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.

    Science.gov (United States)

    Feingold, Brian; Mahle, William T; Auerbach, Scott; Clemens, Paula; Domenighetti, Andrea A; Jefferies, John L; Judge, Daniel P; Lal, Ashwin K; Markham, Larry W; Parks, W James; Tsuda, Takeshi; Wang, Paul J; Yoo, Shi-Joon

    2017-09-26

    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. © 2017 American Heart Association, Inc.

  19. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases.

    Science.gov (United States)

    Volk, Alexander E; Kubisch, Christian

    2017-10-01

    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. However, it has been shown that the inclusion of parents and additional family members often leads to a substantial increase in the diagnostic yield in exome-wide/genome-wide MPS approaches. In addition, MPS-based RNA sequencing just enters the research and diagnostic scene. 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.

  20. Risk of Unsuccessful Noninvasive Ventilation for Acute Respiratory Failure in Heterogeneous Neuromuscular Diseases: A Retrospective Study

    OpenAIRE

    Kataoka, Hiroshi; Nanaura, Hitoki; Kinugawa, Kaoru; Uchihara, Yuto; Ohara, Hiroya; Eura, Nobuyuki; Syobatake, Ryogo; Sawa, Nobuhiro; Takao, Kiriyama; Sugie, Kazuma; Ueno, Satoshi

    2017-01-01

    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...

  1. Evaluation of ventilators for mouthpiece ventilation in neuromuscular disease.

    Science.gov (United States)

    Khirani, Sonia; Ramirez, Adriana; Delord, Vincent; Leroux, Karl; Lofaso, Frédéric; Hautot, Solène; Toussaint, Michel; Orlikowski, David; Louis, Bruno; Fauroux, Brigitte

    2014-09-01

    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: 3 mouthpieces, a child and an adult patient profile, and 4 ventilatory modes. Questionnaires were obtained from 30 subjects (mean age 33 ± 11 y) using NIV for 12 ± 7 y. Fifteen subjects used NIV for > 20 h/day, and 11 were totally ventilator-dependent. The subject-reported benefits of mouthpiece ventilation were a reduction in dyspnea (73%) and fatigue (93%) and an improvement in speech (43%) and eating (27%). The bench study showed that none of the ventilators, even those with mouthpiece ventilation software, were able to deliver mouthpiece ventilation without alarms and/or autotriggering in each condition. Alarms and/or ineffective triggering or autotriggering were observed in 135 of the 198 conditions. 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. Copyright © 2014 by Daedalus Enterprises.

  2. Neuromuscular complications of thyrotoxicosis.

    Science.gov (United States)

    Kung, Annie W C

    2007-11-01

    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.

  3. Computed tomography of the skeletal muscles in neuromuscular diseases

    International Nuclear Information System (INIS)

    Nagao, Hideo; Takahashi, Mitsugi; Habara, Shinji; Nagai, Yoshinao; Matsuda, Hiroshi

    1986-01-01

    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. quadriceps femoris occurring in all the patients were visible earlist on CT, followed by those in the m. gluteus maximus, m. gastrocnemius, and m. soleus. 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. gastrocnemius and m. soleus in both WH and FCMD patients, while a low density area seen in the m. gluteus maximum on CT was restricted to FCMD patients. This suggests the potential of CT in the differentiation of WH from FCMD. In patients with childhood ARMD, there were various CT findings including normal and extremely low density areas. CT findings in NM patients were similar to those in DMD patients. High density areas were seen along the fascia of the trunk in MOC patients. (Namekawa, K.)

  4. Clinical applications of immunoglobulin in neuromuscular diseases: focus on inflammatory myopathies

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    2014-12-01

    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.

  5. Biochemistry of Neuromuscular Diseases: A Course for Undergraduate Students

    Science.gov (United States)

    Ohlendieck, Kay

    2002-01-01

    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…

  6. Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.

    Science.gov (United States)

    van den Engel-Hoek, Lenie; de Groot, Imelda J M; de Swart, Bert J M; Erasmus, Corrie E

    2015-11-20

    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.

  7. How Persons with a Neuromuscular Disease Perceive Employment Participation : A Qualitative Study

    NARCIS (Netherlands)

    Baziel van Engelen; Yvonne Heerkens; Josephine Engels; Astrid Kinébanian; Ton Satink; Marie-Antoinette van Minis

    2014-01-01

    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

  8. Long Term Follow-up of Ventilated Patients with Thoracic Restriction and Neuromuscular Disease

    Directory of Open Access Journals (Sweden)

    Dina Brooks

    2002-01-01

    Full Text Available OBJECTIVE: 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.

  9. Neuromuscular exercises prevent severe knee injury in adolescent team handball players.

    Science.gov (United States)

    Achenbach, Leonard; Krutsch, Volker; Weber, Johannes; Nerlich, Michael; Luig, Patrick; Loose, Oliver; Angele, Peter; Krutsch, Werner

    2017-10-20

    Team handball is associated with a high risk of severe knee injury that needs to be reduced, particularly at the youth level. The purpose of this study was to show how an injury-prevention programme effectively reduces severe knee injury in adolescent team handball players. Of 23 adolescent handball teams of both sexes, 13 were randomly allocated into the intervention group (168 players) and 10 into the control group (111 players). Players of the intervention group regularly participated in an injury-prevention programme for one season. Handball exposure and sustained injuries were documented for both groups on a monthly basis. The primary outcome parameter of the injury-prevention programme was the incidence of severe knee injury. Of the 279 included players, 68 (24%) sustained 82 injuries yielding an overall incidence of 1.85 injuries per 1000 h handball exposure (intervention group: 50 injuries/incidence: 1.90/1000 h; control group: 32 injuries/incidence: 1.78/1000 h). Knee injury was the second most frequent injury in adolescent team handball. The primary outcome parameter, severe knee injury occurred significantly more often in the control group [mean age (SD) 15.1 (1.0), injury incidence 0.33/1000 h] than in the intervention group [mean age (SD) 14.9 (0.9), injury incidence 0.04/1000 h]. The odds ratio was 0.11 (95% CI 0.01-0.90), p = 0.019. Other injuries to the lower extremities showed no significant difference between the two groups. Frequent neuromuscular exercises prevent severe knee injury in adolescent team handball players and should thus be included in the practical routine as well as in the education of team coaches.

  10. Noninvasive Respiratory Management of Patients With Neuromuscular Disease.

    Science.gov (United States)

    Bach, John R

    2017-08-01

    This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623 spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis users of noninvasive ventilatory support (NVS) of whom 760 required it continuously (CNVS). The CNVS sustained their lives by over 3,000 patient-years without resort to indwelling tracheostomy tubes. These centers have now extubated at least 74 consecutive ventilator unweanable patients with DMD, over 95% of CNVS-dependent patients with SMA1, and hundreds of others with advanced neuromuscular disorders (NMDs) without resort to tracheotomy. Two centers reported a 99% success rate at extubating 258 ventilator unweanable patients without resort to tracheotomy. 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.

  11. Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: A comprehensive review of the literature

    NARCIS (Netherlands)

    B. Schoser; Fong, E. (Edward); Geberhiwot, T. (Tarekegn); Hughes, D. (Derralynn); Kissel, J.T. (John T.); Madathil, S.C. (Shyam C.); Orlikowski, D. (David); Polkey, M.I. (Michael I.); M. Roberts (Mark); H.A.W.M. Tiddens (Harm); Young, P. (Peter)

    2017-01-01

    textabstractRespiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle

  12. Risk of Unsuccessful Noninvasive Ventilation for Acute Respiratory Failure in Heterogeneous Neuromuscular Diseases: A Retrospective Study.

    Science.gov (United States)

    Kataoka, Hiroshi; Nanaura, Hitoki; Kinugawa, Kaoru; Uchihara, Yuto; Ohara, Hiroya; Eura, Nobuyuki; Syobatake, Ryogo; Sawa, Nobuhiro; Takao, Kiriyama; Sugie, Kazuma; Ueno, Satoshi

    2017-02-20

    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 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. After 24 hours, all but 1 patient with amyotrophic lateral sclerosis (ALS) received continuous NIV support. 72 hours later, 5 patients were switched from NIV to invasive ventilation, and 5 patients continued to receive NIV support. 72 hours after the initiation of NIV, the proportion of patients with a diagnosis of ALS differed significantly among the three groups (P=0.039). 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.

  13. Risk of unsuccessful noninvasive ventilation for acute respiratory failure in heterogeneous neuromuscular diseases: a retrospective study

    Directory of Open Access Journals (Sweden)

    Hiroshi Kataoka

    2017-03-01

    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. 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 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. After 24 hours, all but 1 patient with amyotrophic lateral sclerosis (ALS received continuous NIV support. 72 hours later, 5 patients were switched from NIV to invasive ventilation, and 5 patients continued to receive NIV support. 72 hours after the initiation of NIV, the proportion of patients with a diagnosis of ALS differed significantly among the three groups (P=0.039. 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.

  14. Therapeutic efficacy of neuromuscular electrical stimulation and electromyographic biofeedback on Alzheimer's disease patients with dysphagia.

    Science.gov (United States)

    Tang, Yi; Lin, Xiang; Lin, Xiao-Juan; Zheng, Wei; Zheng, Zhi-Kai; Lin, Zhao-Min; Chen, Jian-Hao

    2017-09-01

    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.A series of 103 Alzheimer's disease patients with dysphagia were divided into 2 groups, among which the control group (n = 50) received swallowing function training and the treatment group (n = 53) received neuromuscular electrical stimulation plus EMG-biofeedback therapy. 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.

  15. Five-Year Follow-Up and Outcomes of Noninvasive Ventilation in Subjects With Neuromuscular Diseases.

    Science.gov (United States)

    Suh, Mi Ri; Choi, Won Ah; Kim, Dong Hyun; Lee, Jang Woo; Kim, Eun Young; Kang, Seong-Woong

    2018-03-01

    The purpose of this study was to investigate the 5-year outcomes of noninvasive ventilation (NIV) application in different neuromuscular disease (NMD) groups. We categorized 180 subjects who had initiated NIV between March 2001 and August 2009 into 4 groups and followed them for > 5 y. The NIV maintenance rate and average duration, applying time, and forced vital capacity (FVC) were investigated at the time NIV was initiated and 5 y after NIV initiation in each group. In subjects with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and spinal muscular atrophy (SMA)-congenital myopathy, the 5-year subjects who continued to use NIV over time were 22.5%, 89.4%, and 91.3%, respectively, and the average NIV maintenance durations were 21.53 ± 19.26 months, 55.22 ± 11.47 months, and 57.48 ± 8.34 months, respectively ( P NIV was tolerated long-term without significant increases in daily application time for most subjects with NMD. However, in individuals with ALS, development of severe bulbar symptoms can risk maintaining NIV. Copyright © 2018 by Daedalus Enterprises.

  16. Transcutaneous neuromuscular electrical stimulation (VitalStim) curative therapy for severe dysphagia: myth or reality?

    Science.gov (United States)

    Shaw, Gary Y; Sechtem, Phillip R; Searl, Jeff; Keller, Kristina; Rawi, Taib A; Dowdy, Emily

    2007-01-01

    VitalStim therapy was approved by the US Food and Drug Administration in 2001 for the treatment of dysphagia through the application of neuromuscular electrical stimulation to cervical swallowing muscles. This approval was based upon submission of data on more than 800 patients who received this therapy collected by the principal developer and patent-holder of the device. The therapy is marketed as successful in restoring long-term swallowing function in 97.5% of dysphagic patients past the point of requiring a feeding tube and as significantly better than existing therapies. More than 2,500 speech-language pathologists have taken the certification course, and thousands of devices have been sold. To date, however, aside from the developer's own studies, there are no peer-reviewed publications supporting these claims. We sought to evaluate the effectiveness of VitalStim therapy in a heterogeneous group of dysphagic patients. We performed a retrospective analysis of 18 patients who received this therapy at an urban tertiary referral center. All patients underwent pretherapy evaluation by speech-language pathologists, including modified barium swallow and/or functional endoscopic evaluation of swallowing and clinical evaluation of swallowing that included assessment of laryngeal elevation, diet tolerance, and swallowing delay, and were then assigned an overall dysphagia severity score. After therapy, all patients underwent the same assessments. Twelve of the 18 also underwent a functional swallowing telephone survey months (range, 1 to 21 months) after their therapy to assess whether the improvement was worthwhile and sustained. Eleven of the 18 patients (61%) demonstrated some improvement in their swallowing. Six of the 18 patients (33%) were improved enough to no longer require a feeding tube. However, of the 5 patients categorized as having "severe dysphagia" before therapy, only 2 showed any improvement, and these patients still required a feeding tube for

  17. Neuromuscular disease mimicking myasthenia gravis in a Nigerian ...

    African Journals Online (AJOL)

    Background : Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. Methods : 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 ...

  18. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

    Directory of Open Access Journals (Sweden)

    Ximena Paez-Colasante

    Full Text Available In the inherited childhood neuromuscular disease spinal muscular atrophy (SMA, lower motor neuron death and severe muscle weakness result from the reduction of the ubiquitously expressed protein survival of motor neuron (SMN. Although SMA mice recapitulate many features of the human disease, it has remained unclear if their short lifespan and motor weakness are primarily due to cell-autonomous defects in motor neurons. Using Hb9(Cre as a driver, we selectively raised SMN expression in motor neurons in conditional SMAΔ7 mice. Unlike a previous study that used choline acetyltransferase (ChAT(Cre+ as a driver on the same mice, and another report that used Hb9(Cre as a driver on a different line of conditional SMA mice, we found no improvement in survival, weight, motor behavior and presynaptic neurofilament accumulation. However, like in ChAT(Cre+ mice, we detected rescue of endplate size and mitigation of neuromuscular junction (NMJ denervation status. The rescue of endplate size occurred in the absence of an increase in myofiber size, suggesting endplate size is determined by the motor neuron in these animals. Real time-PCR showed that the expression of spinal cord SMN transcript was sharply reduced in Hb9(Cre+ SMA mice relative to ChAT(Cre+ SMA mice. This suggests that our lack of overall phenotypic improvement is most likely due to an unexpectedly poor recombination efficiency driven by Hb9(Cre . Nonetheless, the low levels of SMN were sufficient to rescue two NMJ structural parameters indicating that these motor neuron cell autonomous phenotypes are very sensitive to changes in motoneuronal SMN levels. Our results directly suggest that even those therapeutic interventions with very modest effects in raising SMN in motor neurons may provide mitigation of neuromuscular phenotypes in SMA patients.

  19. Neuromuscular exercise improves functional performance in patients with severe hip osteoarthritis

    DEFF Research Database (Denmark)

    Villadsen, Allan; Overgaard, Søren; Larsen, Anders Holsgaard

    . Randomized controlled trial (Clinicaltrials.gov identifier: NCT01003756). 84 patients, 51% female, mean age 68.6±7.8 years, BMI 28.7±4.7 scheduled for total hip replacement at Svendborg Community Hospital, Odense University Hospital, Denmark were included. Intervention. Participants were randomized...... to an eight-week neuromuscular exercise (NEMEX-TJR) intervention or care-as-usual (verbal and written preoperative information). Intervention was supervised and offered twice a week with each session lasting one hour. The program is considered feasible and safe in this patient group and previously described......±4 sessions (Table 1). In favor of the intervention group, the between-group difference was significant for 20-m walk (2.2 seconds, p=.009), chair stands (1.7 seconds, p=.022) and leg extension for the non operated leg (.17 W/kg, p=.049) (Table 2). Conclusion. Eight weeks neuromuscular exercise according...

  20. Role of non-invasive ventilation in difficult-to-wean children with acute neuromuscular disease.

    Science.gov (United States)

    Reddy, V G; Nair, M P; Bataclan, F

    2004-05-01

    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.

  1. Doenças neuromusculares Neuromuscular disorders

    Directory of Open Access Journals (Sweden)

    Umbertina C. Reed

    2002-08-01

    differential diagnosis among the main neuromuscular disorders in children, that include the diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. Sources: the review of the clinical aspects that should be considered for a prompt differential diagnosis among several neuromuscular disorders as well as between those and the main causes of secondary muscular hypotonia due to central nervous system or systemic disturbances is based on the clinical experience acquired along the last 12 years in following-up children with Neuromuscular Disorders attended at the outpatient Service of Neuromuscular Disorders at the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. 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: most of neuromuscular disorders are genetic conditions in children and the most common of them are X-linked Progressive Muscular Dystrophy of Duchenne, Spinal Muscular Atrophy, Congenital Muscular Dystrophy, Myotonic Dystrophy and Congenital Myopathies. Conclusions: due to the phenomenal development in human molecular genetics the pathogenesis of several neuromuscular disorders in children has been clarified over the last decade. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available.

  2. Sleep-Disordered Breathing in Neuromuscular Disease: Diagnostic and Therapeutic Challenges.

    Science.gov (United States)

    Aboussouan, Loutfi S; Mireles-Cabodevila, Eduardo

    2017-10-01

    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. The most commonly identified events are diaphragmatic/pseudo-central, due to a decrease in the rib cage contribution to the tidal volume during phasic rapid eye movement sleep. 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. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  3. Impact of neuromuscular electrical stimulation on functional capacity of patients with chronic kidney disease on hemodialysis.

    Science.gov (United States)

    Roxo, Renata Spósito; Xavier, Vivian Bertoni; Miorin, Luiz Antônio; Magalhães, Andrea Olivares; Sens, Yvoty Alves Dos Santos; Alves, Vera Lúcia Dos Santos

    2016-01-01

    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. Forty adult patients with chronic kidney disease on hemodialysis were prospectively studied and randomized into two groups (control n = 20 and treatment n = 20). 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. The treatment group presented increased maximum inspiratory (MIP) (p = 0.02) and expiratory pressures (MEP) (p grupos (controle n = 20 e tratamento n = 20). O grupo tratamento realizou protocolo com estimulação elétrica neuromuscular em quadríceps femoral por 30 minutos durante a hemodiálise, três vezes por semana, durante dois meses. Todos pacientes realizaram espirometria, pressões respiratórias máximas, teste de uma repetição máxima e teste da caminhada dos seis minutos (TC6), antes e após o período de acompanhamento. O grupo tratamento apresentou aumento da pressão inspiratória máxima com p = 0,02 na comparação entre grupos e p grupo de tratamento com p grupo controle. A estimulação elétrica neuromuscular teve impacto positivo sobre a função pulmonar e a capacidade funcional levando ao melhor desempenho físico em pacientes em hemodiálise.

  4. Sugammadex rescue following prolonged rocuronium neuromuscular blockade with ‘recurarisation’ in a patient with severe renal failure

    Science.gov (United States)

    Lobaz, Steven; Sammut, Mario; Damodaran, Anand

    2013-01-01

    We describe our experience of a 71-year-old patient with severe renal failure, who exhibited an unusually prolonged rocuronium-induced neuromuscular blockade (>4 h) and apparent recurarisation, following emergency rapid sequence induction (RSI). At the end of operation, 45 min post induction, train-of-four (TOF) testing had been 4/4 prior to wake up. No respiratory effort was seen 150 min postinduction, despite further neostigmine/glycopyrrolate and repeat TOF 4/4. The patient was resedated and transferred to the intensive care unit (ICU). At 180 min postinduction, fade was evident on TOF, suggestive of rocuronium reblockade. At 285 min, the patient was extubated safely following sugammadex administration and discharged uneventfully from the ICU. An important lesson to recognise is the potential for extremely prolonged neuromuscular blockade following rocuronium in patients with severe renal failure, particularly when using the higher doses (1.2 mg/kg) required for RSI, and that TOF in such cases may not be reliable in detecting residual blockade. PMID:23396837

  5. Effects of neuromuscular training (NEMEX-TJR) on patient-reported outcomes and physical function in severe primary hip or knee osteoarthritis

    DEFF Research Database (Denmark)

    Ageberg, Eva; Nilsdotter, Anna; Kosek, Eva

    2013-01-01

    The benefits of exercise in mild and moderate knee or hip osteoarthritis (OA) are apparent, but the evidence in severe OA is less clear. We recently reported that neuromuscular training was well tolerated and feasible in patients with severe primary hip or knee OA. The aims of this controlled bef...... before-and-after study were to compare baseline status to an age-matched population-based reference group and to examine the effects of neuromuscular training on patient-reported outcomes and physical function in patients with severe primary OA of the hip or knee.......The benefits of exercise in mild and moderate knee or hip osteoarthritis (OA) are apparent, but the evidence in severe OA is less clear. We recently reported that neuromuscular training was well tolerated and feasible in patients with severe primary hip or knee OA. The aims of this controlled...

  6. Immediate Efficacy of Neuromuscular Exercise in Patients with Severe Osteoarthritis of the Hip or Knee

    DEFF Research Database (Denmark)

    Villadsen, Allan; Overgaard, Søren; Holsgaard-Larsen, Anders

    2014-01-01

    and Osteoarthritis Outcome Score (HOOS) and the Knee Injury and Osteoarthritis Outcome Score (KOOS) questionnaire. The secondary outcomes were the HOOS/KOOS subscales Pain, Symptoms, Sport and Recreation, and Joint-related Quality of Life. Exploratory outcomes were functional performance measures and lower limb...... muscle power. RESULTS: Included were 165 patients, 56% female, average age 67 years (SD ± 8), and a body mass index of 30 (SD ± 5), who were scheduled for primary hip or knee replacement. The postintervention difference between mean changes in ADL was 7.2 points (95% CI 3.5 to 10.9, p = 0.0002) in favor...... and objective performance were improved and pain reduced immediately following 8 weeks of neuromuscular exercise. While the effects were moderate in hip OA, they were only small in knee OA. ClinicalTrials.gov Identifier: NCT01003756....

  7. MRI in neuromuscular disorders

    International Nuclear Information System (INIS)

    Fischmann, Arne

    2014-01-01

    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. (orig.)

  8. Management of neuromuscular diseases and spinal muscular atrophy in Latin America.

    Science.gov (United States)

    Monges, S; Rosa, A L

    2017-09-01

    Latin America (LA) has a population of ~645 million people distributed over 33 countries with marked political, cultural and economic differences. 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. The Euro-Latin-American Summer School of Myology (EVELAM) as well as efforts of professionals at large public centers in the major cities of LA have a leading role in this development. 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.

  9. Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status : A secondary analysis

    NARCIS (Netherlands)

    Rob Oostendorp; Peter Huijbregts; Marie-Antoinette Minis; Joke Kalkman; Baziel Engelen; Reinier Akkermans; Gijs Bleijenberg; Josephine Engels

    2010-01-01

    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,

  10. Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: a secondary analysis.

    NARCIS (Netherlands)

    Minis, M.A.H; Kalkman, J.S.; Akkermans, R.P.; Engels, J.A.; Huijbregts, P.A.; Bleijenberg, G.; Oostendorp, R.A.B.; Engelen, B.G.M. van

    2010-01-01

    OBJECTIVE: 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

  11. Neuromuscular electrical stimulation versus traditional therapy in patients with Parkinson's disease and oropharyngeal dysphagia: effects on quality of life.

    Science.gov (United States)

    Heijnen, B J; Speyer, R; Baijens, L W J; Bogaardt, H C A

    2012-09-01

    This study compares the effects of traditional logopedic dysphagia treatment with those of neuromuscular electrical stimulation (NMES) as adjunct to therapy on the quality of life in patients with Parkinson's disease and oropharyngeal dysphagia. Eighty-eight patients were randomized over three treatment groups. Traditional logopedic dysphagia treatment and traditional logopedic dysphagia treatment combined with NMES at sensor or motor level stimulation were compared. At three times (pretreatment, post-treatment, and 3 months following treatment), two quality-of-life questionnaires (SWAL-QOL and MD Anderson Dysphagia Inventory) and a single-item Dysphagia Severity Scale were scored. The Functional Oral Intake Scale was used to assess the dietary intake. After therapy, all groups showed significant improvement on the Dysphagia Severity Scale and restricted positive effects on quality of life. Minimal group differences were found. These effects remained unchanged 3 months following treatment. No significant correlations were found between dietary intake and quality of life. Logopedic dysphagia treatment results in a restricted increased quality of life in patients with Parkinson's disease. In this randomized controlled trial, all groups showed significant therapy effects on the Dysphagia Severity Scale and restricted improvements on the SWAL-QOL and the MDADI. However, only slight nonsignificant differences between groups were found.

  12. Neuromuscular complications of immune checkpoint inhibitor therapy.

    Science.gov (United States)

    Kolb, Noah A; Trevino, Christopher R; Waheed, Waqar; Sobhani, Fatemeh; Landry, Kara K; Thomas, Alissa A; Hehir, Mike

    2018-01-17

    Immune checkpoint inhibitor (ICPI) therapy unleashes the body's natural immune system to fight cancer. ICPIs improve overall cancer survival, however, the unbridling of the immune system may induce a variety of immune-related adverse events. Neuromuscular immune complications are rare but they can be severe. Myasthenia gravis and inflammatory neuropathy are the most common neuromuscular adverse events but a variety of others including inflammatory myopathy are reported. The pathophysiologic mechanism of these autoimmune disorders may differ from that of non-ICPI-related immune diseases. Accordingly, while the optimal treatment for ICPI-related neuromuscular disorders generally follows a traditional paradigm, there are important novel considerations in selecting appropriate immunosuppressive therapy. This review presents 2 new cases, a summary of neuromuscular ICPI complications, and an approach to the diagnosis and treatment of these disorders. Muscle Nerve, 2018. © 2018 Wiley Periodicals, Inc.

  13. [Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases].

    Science.gov (United States)

    Yoshida, Kunihiro; Tamai, Mariko; Kubota, Takeo; Kawame, Hiroshi; Amano, Naoji; Ikeda, Shu-ichi; Fukushima, Yoshimitsu

    2002-02-01

    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 1996 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. In pre-test genetic counseling sessions, we consider it quite important not only to determine the psychological status of the individual, but also to make the individual try to anticipate the changes in his/her life upon

  14. Neuromuscular electrical stimulation improves exercise tolerance in chronic obstructive pulmonary disease patients with better preserved fat-free mass

    Directory of Open Access Journals (Sweden)

    Lara Maris Nápolis

    2011-01-01

    Full Text Available BACKGROUND: 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. OBJECTIVE: To investigate the effects of high-frequency neuromuscular electrical stimulation in COPD patients with better-preserved peripheral muscle function. Design: Prospective and cross-over study. METHODS: 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. RESULTS: Thirteen (46.4% patients responded to high-frequency neuromuscular electrical stimulation; that is, they had a post/pre Δ Tlim >10% after stimulation (unimproved after sham stimulation. Responders had a higher baseline fat-free mass and six-minute walking distance than their seventeen (53.6% non-responding counterparts. Responders trained at higher stimulation intensities; their mean amplitude of stimulation during training was significantly related to their fat-free mass (r = 0.65; p<0.01. Logistic regression revealed that fat-free mass was the single independent predictor of Tlim improvement (odds ratio [95% CI] = 1.15 [1.04-1.26]; p<0.05. CONCLUSIONS: We conclude that high-frequency neuromuscular electrical stimulation improved the exercise capacity of COPD patients with better-preserved fat-free mass because they tolerated higher training stimulus levels. 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.

  15. Efficacy, safety and pharmacokinetics of sugammadex 4 mg kg-1 for reversal of deep neuromuscular blockade in patients with severe renal impairment

    NARCIS (Netherlands)

    Panhuizen, I. F.; Gold, S. J. A.; Buerkle, C.; Snoeck, M. M. J.; Harper, N. J. N.; Kaspers, M. J. G. H.; van den Heuvel, M. W.; Hollmann, M. W.

    2015-01-01

    This study evaluated efficacy and safety of sugammadex 4 mg kg(-1) for deep neuromuscular blockade (NMB) reversal in patients with severe renal impairment (creatinine clearance [CLCR] <30 ml min(-1)) vs those with normal renal function (CLCR ≥80 ml min(-1)). Sugammadex 4 mg kg(-1) was administered

  16. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

    Science.gov (United States)

    Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

    2013-12-01

    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.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. 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.

  17. Preliminary clinical experience using the method of 31P MR spectroscopy in investigations of neuromuscular diseases in children

    International Nuclear Information System (INIS)

    Hajek, M.; Horska, A.; Grosmanova, A.; Urban, P.; Suchanek, M.; Jirasek, A.

    1990-01-01

    31 P MR spectroscopy was used to investigate neuromuscular diseases of various origin in 35 patients, mostly children. In devising the procedure of MR examination and of evaluation of results, pattern recognition analysis was used. According to the results of 31 P MR spectroscopy, the patients can be divided into three groups. Group A comprises patients with severe muscular lesions such as Duchenne dystrophy. The second, B group is characterized by milder atrophic changes of muscle fibres. The third group comprises dubious cases. The 31 P MRS method was also used for investigating the development of the disease in time - a decrease in parameter P CR /P i (P CR is an indicator of phosphocreatinine and P i an indicator of inorganic phosphate) corresponds to a deterioration of the clinical condition of patients from group one. In group B fairly stable values of the parameter were observed. An increase in P CR /P i was also observed during administration of Prednisone in a patient with child polymyositis. 3 figs., 3 tabs., 23 refs

  18. Cross‐disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology

    Science.gov (United States)

    Nijssen, Jik; Frost‐Nylen, Johanna

    2015-01-01

    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. Conversely, neuromuscular junctions of the lumbrical muscles of the hind‐paw were vulnerable in both SMA and ALS, with a loss of neuronal innervation and shrinkage of motor endplates in both diseases. 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. J. Comp. Neurol. 524:1424–1442, 2016. © 2015 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc. PMID:26502195

  19. Ablation of RIC8A function in mouse neurons leads to a severe neuromuscular phenotype and postnatal death.

    Directory of Open Access Journals (Sweden)

    Katrin Ruisu

    Full Text Available Resistance to inhibitors of cholinesterase 8 (RIC8 is a guanine nucleotide exchange factor required for the intracellular regulation of G protein signalling. RIC8 activates different Gα subunits via non-canonical pathway, thereby amplifying and prolonging the G protein mediated signal. In order to circumvent the embryonic lethality associated with the absence of RIC8A and to study its role in the nervous system, we constructed Ric8a conditional knockout mice using Cre/loxP technology. Introduction of a synapsin I promoter driven Cre transgenic mouse strain (SynCre into the floxed Ric8a (Ric8a (F/F background ablated RIC8A function in most differentiated neuron populations. Mutant SynCre (+/- Ric8 (lacZ/F mice were born at expected Mendelian ratio, but they died in early postnatal age (P4-P6. The mutants exhibited major developmental defects, like growth retardation and muscular weakness, impaired coordination and balance, muscular spasms and abnormal heart beat. Histological analysis revealed that the deficiency of RIC8A in neurons caused skeletal muscle atrophy and heart muscle hypoplasia, in addition, the sinoatrial node was misplaced and its size reduced. However, we did not observe gross morphological changes in brains of SynCre (+/- Ric8a (lacZ/F mutants. Our results demonstrate that in mice the activity of RIC8A in neurons is essential for survival and its deficiency causes a severe neuromuscular phenotype.

  20. Ablation of RIC8A function in mouse neurons leads to a severe neuromuscular phenotype and postnatal death.

    Science.gov (United States)

    Ruisu, Katrin; Kask, Keiu; Meier, Riho; Saare, Merly; Raid, Raivo; Veraksitš, Alar; Karis, Alar; Tõnissoo, Tambet; Pooga, Margus

    2013-01-01

    Resistance to inhibitors of cholinesterase 8 (RIC8) is a guanine nucleotide exchange factor required for the intracellular regulation of G protein signalling. RIC8 activates different Gα subunits via non-canonical pathway, thereby amplifying and prolonging the G protein mediated signal. In order to circumvent the embryonic lethality associated with the absence of RIC8A and to study its role in the nervous system, we constructed Ric8a conditional knockout mice using Cre/loxP technology. Introduction of a synapsin I promoter driven Cre transgenic mouse strain (SynCre) into the floxed Ric8a (Ric8a (F/F) ) background ablated RIC8A function in most differentiated neuron populations. Mutant SynCre (+/-) Ric8 (lacZ/F) mice were born at expected Mendelian ratio, but they died in early postnatal age (P4-P6). The mutants exhibited major developmental defects, like growth retardation and muscular weakness, impaired coordination and balance, muscular spasms and abnormal heart beat. Histological analysis revealed that the deficiency of RIC8A in neurons caused skeletal muscle atrophy and heart muscle hypoplasia, in addition, the sinoatrial node was misplaced and its size reduced. However, we did not observe gross morphological changes in brains of SynCre (+/-) Ric8a (lacZ/F) mutants. Our results demonstrate that in mice the activity of RIC8A in neurons is essential for survival and its deficiency causes a severe neuromuscular phenotype.

  1. Feasibility of neuromuscular training in patients with severe hip or knee OA

    DEFF Research Database (Denmark)

    Ageberg, Eva; Link, Anne; Roos, Ewa M

    2010-01-01

    for a median of 11 weeks (quartiles 7 to 15) prior to total joint replacement (TJR). Pain was self-reported immediately after each training session on a 0 to 10 cm, no pain to pain as bad as it could be, scale, where 0-2 indicates safe, > 2 to 5 acceptable and > 5 high risk pain. Joint specific adverse events...... training. Self-reported pain was lower at training sessions 10 and 20 (p = 0.04) and unchanged at training sessions 5 and 15 (p = 0.170, p = 0.161) compared with training session 1. There were no joint specific adverse events in terms of not attending or ceasing training. Few patients (n = 17, 22......%) reported adverse events in terms of self-reported pain > 5 after one or more training sessions. Progression of training level was achieved over time (p training program is feasible in patients with severe hip or knee OA, in terms of safe self-reported pain following...

  2. A flexible electrode array for muscle impedance measurements in the mouse hind limb: A tool to speed research in neuromuscular disease

    International Nuclear Information System (INIS)

    Li, J; Rutkove, S B

    2013-01-01

    Electrical impedance myography (EIM) is a bioelectrical impedance technique focused on the assessment of neuromuscular diseases using tetrapolar surface arrays. Recently, we have shown that reproducible and sensitive EIM measurements can be made on the gastrocnemius muscle of the mouse hind limb and that these are sensitive to disease alterations. A dedicated array would help speed data acquisition and provide additional sensitivity to disease-induced alterations. A flexible electrode array was developed with electrode sizes of 1mm × 1mm by Parlex, Inc. Tetrapolar electrode sets were arranged both parallel to (longitudinal) and orthogonally to (transverse) the major muscle fiber direction of the gastrocnemius muscle. Measurements were made with a dedicated EIM system. A total of 11 healthy animals and 7 animals with spinal muscular atrophy (a form of motor neuron disease) were evaluated after the fur was completely removed with a depilatory agent from the hind limb. Standard electrophysiologic testing (compound motor action potential amplitude and motor unit number estimation) was also performed. The flexible electrode array demonstrated high repeatability in both the longitudinal and transverse directions in the healthy and diseased animals (with intraclass correlation coefficients of 0.94 and 0.89, respectively, for phase angle measured transversely). In addition, differences between healthy and diseased animals were identifiable. For example, the 50 kHz transverse phase angle was higher in the healthy as compared to the SMA animals (16.8° ± 0.5 vs. 14.3° ± 0.7, respectively) at 21 weeks of age (p = 0.01). Differences in anisotropy were also identifiable. Correlations to several standard neurophysiologic parameters also appeared promising. This novel flexible tetrapolar electrode array can be used on the mouse hind limb and provides multidirectional data that can be used to assess muscle health. This technique has the potential of finding widespread use in

  3. A flexible electrode array for muscle impedance measurements in the mouse hind limb: A tool to speed research in neuromuscular disease

    Science.gov (United States)

    Li, J.; Rutkove, S. B.

    2013-04-01

    Electrical impedance myography (EIM) is a bioelectrical impedance technique focused on the assessment of neuromuscular diseases using tetrapolar surface arrays. Recently, we have shown that reproducible and sensitive EIM measurements can be made on the gastrocnemius muscle of the mouse hind limb and that these are sensitive to disease alterations. A dedicated array would help speed data acquisition and provide additional sensitivity to disease-induced alterations. A flexible electrode array was developed with electrode sizes of 1mm × 1mm by Parlex, Inc. Tetrapolar electrode sets were arranged both parallel to (longitudinal) and orthogonally to (transverse) the major muscle fiber direction of the gastrocnemius muscle. Measurements were made with a dedicated EIM system. A total of 11 healthy animals and 7 animals with spinal muscular atrophy (a form of motor neuron disease) were evaluated after the fur was completely removed with a depilatory agent from the hind limb. Standard electrophysiologic testing (compound motor action potential amplitude and motor unit number estimation) was also performed. The flexible electrode array demonstrated high repeatability in both the longitudinal and transverse directions in the healthy and diseased animals (with intraclass correlation coefficients of 0.94 and 0.89, respectively, for phase angle measured transversely). In addition, differences between healthy and diseased animals were identifiable. For example, the 50 kHz transverse phase angle was higher in the healthy as compared to the SMA animals (16.8° ± 0.5 vs. 14.3° ± 0.7, respectively) at 21 weeks of age (p = 0.01). Differences in anisotropy were also identifiable. Correlations to several standard neurophysiologic parameters also appeared promising. This novel flexible tetrapolar electrode array can be used on the mouse hind limb and provides multidirectional data that can be used to assess muscle health. This technique has the potential of finding widespread use in

  4. Home monitoring of daytime mouthpiece ventilation effectiveness in patients with neuromuscular disease

    Science.gov (United States)

    Nardi, Julie; Leroux, Karl; Orlikowski, David; Prigent, Hélène

    2015-01-01

    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. The Apnea–Hypopnea Index (AHI) was computed. Patient–ventilator disconnections ≥3 minutes and episodes of hypoventilation defined as PtcCO2>45 mmHg were counted. Patient–ventilator asynchrony events were analyzed. The AHI was >5 hour−1 in two patients. Another patient experienced unexplained 3% drops in arterial oxygen saturations at a frequency of 70 hour−1. Patient–ventilator disconnections ≥3 minutes occurred in seven of eight patients and were consistently associated with decreases in SpO2 and ≥5-mmHg increases in PtcCO2; PtcCO2 rose above 45 mmHg in two patients during these disconnections. 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. PMID:26703922

  5. "Hospital at home" for neuromuscular disease patients with respiratory tract infection: a pilot study.

    Science.gov (United States)

    Vianello, Andrea; Savoia, Francesca; Pipitone, Emanuela; Nordio, Beatrice; Gallina, Giulia; Paladini, Luciana; Concas, Alessandra; Arcaro, Giovanna; Gallan, Federico; Pegoraro, Elena

    2013-12-01

    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 500,000. 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. No significant differences were found in treatment failure (8/26 vs 13/27, P = .19), time to recovery (8.9 ± 4.6 vs 9 ± 8.9 d, P = .21), or mortality at 3 months (3/26 vs 4/27 deaths, P = .42) between the groups. Hospital-at-home failure was independently correlated with type of NMD (P = .004) with an odds ratio of failure of 17.3 (95% CI 2.1 to infinity) for subjects with amyotrophic lateral sclerosis. 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.

  6. Sonographically guided percutaneous muscle biopsy in diagnosis of neuromuscular disease: a useful alternative to open surgical biopsy.

    Science.gov (United States)

    O'Sullivan, Paul J; Gorman, Grainne M; Hardiman, Orla M; Farrell, Michael J; Logan, P Mark

    2006-01-01

    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 14-gauge core biopsy system in 40 patients over a 24-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 14-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. With the use of sonography, 32 (80%) of 40 patients had a histologic diagnosis made via percutaneous needle biopsy. This included 26 (93%) of 28 patients with acute muscular disease and 6 (50%) of 12 patients with chronic disease. In the surgical group (all acute disease), 38 (95%) of 40 patients had diagnostic tissue attained. Sonographically guided percutaneous 14-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.

  7. Attitudes and expectations of patients with neuromuscular diseases about their participation in a clinical trial.

    Science.gov (United States)

    Gargiulo, M; Herson, A; Michon, C C; Hogrel, J Y; Doppler, V; Laloui, K; Herson, S; Payan, C; Eymard, B; Laforêt, P

    2013-01-01

    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., 2010). We assessed patients (n=8) at inclusion, and at 12 and 18 months for six psychological dimensions: depression (Beck Depression Inventory, BDI), hopelessness (Beck Hopelessness Scale, BHS), anxiety (STAI A-B), quality of life (Whoqol-26), social adjustment (S.A.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. At 12 months, mean social adjustment (SAS-SR, P=0.02) had improved, and at 18 months mean depression score had improved as well (BDI, P=0.03). The quality of life of patients (Whoqol-26) 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". Whether patients believed to be part of one group or another (placebo or treatment) depended on their subjective perception of improvement during the trial. Given the small

  8. Efficacy and safety of sugammadex in the reversal of deep neuromuscular blockade induced by rocuronium in patients with end-stage renal disease: A comparative prospective clinical trial.

    Science.gov (United States)

    de Souza, Camila M; Tardelli, Maria A; Tedesco, Helio; Garcia, Natalia N; Caparros, Mario P; Alvarez-Gomez, Jose A; de Oliveira Junior, Itamar S

    2015-10-01

    Renal failure affects the pharmacology of nondepolarizing neuromuscular blockers making recovery of neuromuscular function unpredictable. Sugammadex antagonises rocuronium-induced neuromuscular blockade by encapsulating rocuronium, creating a stable complex molecule that is mainly excreted by the kidneys. Previous studies suggest that sugammadex is effective in reversing moderate neuromuscular block in the presence of renal failure, but no data are available regarding reversal of profound neuromuscular block in patients with renal failure. The objective of this study is to compare the efficacy and safety of sugammadex in reversing profound neuromuscular block induced by rocuronium in patients with end-stage renal disease and those with normal renal function. A prospective clinical trial. Two university hospitals, from 1 October 2011 to 31 January 2012. Forty patients undergoing kidney transplant: 20 with renal failure [creatinine clearance (ClCr) 90 ml min). Neuromuscular monitoring was performed by acceleromyography and train-of-four (TOF) stimulation. Profound neuromuscular block (posttetanic count, one to three responses) was maintained during surgery. Sugammadex 4 mg kg was administered on completion of skin closure. Recovery of the TOF ratio to 0.9 was recorded. Monitoring of neuromuscular function continued in the postanesthesia care unit for a further 2 h. The efficacy of sugammadex was evaluated by the time taken for the TOF ratio to recover to 0.9. The safety of sugammadex was assessed by monitoring for recurrence of neuromuscular block every 15 min for 2 h. Secondary variables were time to recovery of TOF ratio to 0.7 and 0.8. After sugammadex administration, the mean time for recovery of the TOF ratio to 0.9 was prolonged in the renal failure group (5.6 ± 3.6 min) compared with the control group (2.7 ± 1.3 min, P = 0.003). No adverse events or evidence of recurrence of neuromuscular block were observed. In patients with

  9. Facilitators and Barriers to Noninvasive Ventilation Adherence in Youth with Nocturnal Hypoventilation Secondary to Obesity or Neuromuscular Disease.

    Science.gov (United States)

    Ennis, Jonathan; Rohde, Kristina; Chaput, Jean-Philippe; Buchholz, Annick; Katz, Sherri Lynne

    2015-12-15

    Many youth struggle with adherence to bilevel noninvasive ventilation (NIV), often shortly after initiation of treatment. Anecdotal evidence suggests youths with comorbid obesity struggle with adherence while youths with comorbid neuromuscular disease demonstrate better adherence rates. The objective of this study was to explore factors relating to bilevel NIV adherence, and to compare these between youths with underlying obesity or neuromuscular disease. An exploratory qualitative approach was used to examine youth and caregivers' experiences with and perceptions of bilevel NIV. Semi-structured interviews (n = 16) of caregivers and youths were conducted. Youths 12 years and older with nocturnal hypoventilation diagnosed on polysomnography and managed with bilevel NIV, with either concurrent obesity or neuromuscular disease were included. Thematic analysis of interview data was conducted using qualitative analysis software. Factors associated with positive bilevel NIV adherence included previous encouraging experiences with therapy; subjective symptom improvement; familiarity with medical treatments; understanding of nocturnal hypoventilation and its consequences; family and health-care team support; and early adaptation to treatments. Factors associated with poor bilevel NIV adherence included previous negative experiences with therapy, negative attitude towards therapy; difficulty adapting; perceived lack of support from family or health-care team; fear/embarrassment regarding treatment; caregivers not being health-minded; technical issues; side effects; and a lack of subjective symptom improvement. The dimensions which most affect adherence to bilevel NIV are those which contribute to youths' conception of feeling "well" or "unwell." Adherence to treatment may hinge largely on the way in which NIV is initially experienced and framed. A commentary on this article appears in this issue on page 1355. © 2015 American Academy of Sleep Medicine.

  10. Neuromuscular Disorders

    Science.gov (United States)

    ... lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia ...

  11. Is non-invasive neuromuscular electrical stimulation effective in severe chronic neurogenic dysphagia? Reporton a post-traumatic brain injury patient.

    Science.gov (United States)

    Calabrò, Rocco Salvatore; Nibali, Valeria Conti; Naro, Antonino; Floridia, Daniela; Pizzimenti, Maria; Salmeri, Lucia; Salviera, Carlo; Bramanti, Placido

    2016-01-01

    Neurogenic dysphagia is a difficulty in swallowing induced by nervous system disease. It often causes serious complications, which are preventable if dysphagia is properly managed. There is growing debate concerning the usefulness of non-invasive neuromuscular electrical stimulation (NMES) in treating swallowing dysfunction. Aim of this study was to assess the effectiveness of Vitalstim© device, and to investigate the neurophysiological mechanisms underlying functional recovery. A 34-year-old man, affected by severe chronic dysphagia following traumatic brain injury, underwent two different intensive rehabilitation trainings, including either conventional rehabilitation alone or coupled to Vitalstim training. We evaluated patient swallowing function in two separate sessions (i.e. before and after the two trainings) by means of ad hoc swallowing function scales and electrophysiological parameters (rapid paired associative stimulation). The overall Vitalstim program was articulated in 6 weekly sessions for 6 weeks. The patient did not report any side-effect either during or following both the intensive rehabilitation trainings. We observed an important improvement in swallowing function only after Vitalstim training. In fact, the patient was eventually able to safely eat even solid food. This is the first report objectively suggesting (by means of rPAS) a correlation between the brain neuroplastic changes induced by Vitalstim and the swallowing function improvement. It is hypothesizable that Vitalstim may have targeted cortical (and maybe subcortical) brain areas that are recruited during the highly coordinated function of swallowing, and it may have thus potentiated the well-known neuroplastic changes induced by repetitive and intensive swallowing exercises, probably thanks to metaplasticity phenomena.

  12. Parthenium dermatitis severity score to assess clinical severity of disease

    Directory of Open Access Journals (Sweden)

    Kaushal K Verma

    2017-01-01

    Full Text Available Background: Parthenium dermatitis is the most common type of airborne contact dermatitis in India. It is a chronic disease of a remitting and relapsing course with significant morbidity and distress, but there is no scoring system to assess its severity. Aim: To design a scoring system for the assessment of clinical severity of disease in Parthenium dermatitis and to use this scoring system in various studies to determine its sensitivity, specificity, and reproducibility. Methods and Results: In our first few studies on Parthenium dermatitis, we designed and used a basic clinical severity scoring system based on itching, morphology of the lesions, and areas involved. However, in subsequent studies, we modified it to the present scoring system as Parthenium dermatitis severity score (PDSS. Our studies showed the high sensitivity of PDSS in characterization of the disease severity at the given point of time, as well as to determine the efficacy of a prescribed treatment modality which was reliable and reproducible. Conclusion: Thus, PDSS may be used by clinicians for appropriate scoring of the clinical severity of Parthenium dermatitis and in monitoring the disease response to therapy.

  13. Immediate efficacy of neuromuscular exercise in patients with severe osteoarthritis of the hip or knee: a secondary analysis from a randomized controlled trial.

    Science.gov (United States)

    Villadsen, Allan; Overgaard, Søren; Holsgaard-Larsen, Anders; Christensen, Robin; Roos, Ewa M

    2014-07-01

    Knowledge about the effects of exercise in severe and endstage osteoarthritis (OA) is limited. The aim was to evaluate the efficacy of a neuromuscular exercise program in patients with clinically severe hip or knee OA. This was a randomized controlled assessor-blinded trial. Patients received an educational package (care-as-usual) only, or care-as-usual plus an 8-week neuromuscular exercise intervention (NEMEX-TJR). NEMEX-TJR was supervised by a physiotherapist, twice weekly for 1 h. The primary outcome was Activities of Daily Living (ADL) subscale from the Hip disability and Osteoarthritis Outcome Score (HOOS) and the Knee Injury and Osteoarthritis Outcome Score (KOOS) questionnaire. The secondary outcomes were the HOOS/KOOS subscales Pain, Symptoms, Sport and Recreation, and Joint-related Quality of Life. Exploratory outcomes were functional performance measures and lower limb muscle power. Included were 165 patients, 56% female, average age 67 years (SD ± 8), and a body mass index of 30 (SD ± 5), who were scheduled for primary hip or knee replacement. The postintervention difference between mean changes in ADL was 7.2 points (95% CI 3.5 to 10.9, p = 0.0002) in favor of NEMEX-TJR compared with control. Second, there were statistically significant differences between groups in favor of NEMEX-TJR on all self-reported outcomes and most functional performance tests (walk, chair stands, and 1-leg knee bends). Stratified analyses according to joint revealed moderate effect size for ADL for hip patients (0.63, 95% CI 0.26 to 1.00). Corresponding effect size for knee patients was small (0.23 95% CI -0.14 to 0.60). Feasibility of neuromuscular exercise was confirmed in patients about to have total joint replacement. Self-reported activities of daily living and objective performance were improved and pain reduced immediately following 8 weeks of neuromuscular exercise. While the effects were moderate in hip OA, they were only small in knee OA. Clinical

  14. A discussion on disease severity index values: using the disease severity index for null hypothesis testing

    Science.gov (United States)

    A disease severity index (DSI) is a single number for summarizing a large amount of information on disease severity. It has been used to indicate the performance of a cultivar in regard to disease resistance at a particular location, to relate disease severity to yield loss, to determine the effecti...

  15. Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review.

    NARCIS (Netherlands)

    Minis, M.A.H; Heerkens, Y.H.; Engels, J.; Oostendorp, R.A.B.; Engelen, B.G.M. van

    2009-01-01

    PURPOSE: A systematic evaluation of the literature to identify health and contextual factors associated with employment in patients with neuromuscular diseases (NMD) and to perform a best evidence synthesis, taking into account the design of studies, methodological quality and the statistical

  16. Chronic obstructive pulmonary disease severity is associated with severe pneumonia

    Directory of Open Access Journals (Sweden)

    Jung Seop Eom

    2015-01-01

    Full Text Available CONTEXT: Chronic obstructive pulmonary disease (COPD is a heterogeneous disorder, and various aspects of COPD may be associated with the severity of pneumonia in such patients. AIMS: We examined the risk factors associated with severe pneumonia in a COPD population. MATERIALS AND METHODS: We performed a retrospective observational study using a prospectively collected database of pneumonia patients who were admitted to our hospital through emergency department between 2008 and 2012. Patients with hospital-acquired pneumonia and those with an immunocompromised status were excluded. RESULTS: Of 148 pneumonia patients with COPD for whom chest computed tomography (CT scans were available, 106 (71.6% and 42 (28.4% were classified as non-severe and severe pneumonia, respectively. Multivariate logistic regression analysis revealed that the severity of airflow limitation [odds ratio (OR, 2.751; 95% confidence interval (CI, 1.074-7.050; P = 0.035] and the presence of emphysema on a chest CT scan (OR, 3.366; 95% CI, 1.104-10.265; P = 0.033 were independently associated with severe pneumonia in patients with COPD. CONCLUSIONS: The severity of COPD including the airflow limitation grade and the presence of pulmonary emphysema were independently associated with the development of severe pneumonia.

  17. Skin diseases: prevalence and predictors of itch and disease severity.

    OpenAIRE

    Verhoeven, E.W.M.

    2009-01-01

    Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General definitions of health encompass different dimensions of disease outcome divided in disease severity, accompanying physical symptoms, and psychosocial well-being. These dimensions of disease outcom...

  18. Acute Neuromuscular Adaptations in the Postural Control of Patients with Parkinson’s Disease after Perturbed Walking

    Directory of Open Access Journals (Sweden)

    Cristian F. Pasluosta

    2017-09-01

    Full Text Available Patients suffering from Parkinson’s disease (PD present motor impairments reflected in the dynamics of the center of pressure (CoP adjustments during quiet standing. One method to study the dynamics of CoP adjustments is the entropic half-life (EnHL, which measures the short-term correlations of a time series at different time scales. Changes in the EnHL of CoP time series suggest neuromuscular adaptations in the control of posture. In this study, we sought to investigate the immediate changes in the EnHL of CoP adjustments of patients with PD during one session of perturbed (experimental group and unperturbed treadmill walking (control group. A total of 39 patients with PD participated in this study. The experimental group (n = 19 walked on a treadmill providing small tilting of the treadmill platform. The control group (n = 20 walked without perturbations. Each participant performed 5-min practice followed by three 5-min training blocks of walking with or without perturbation (with 3-min resting in between. Quiet standing CoP data was collected for 30 s at pre-training, after each training block, immediately post-training, and after 10 min retention. The EnHL was computed on the original and surrogates (phase-randomized CoP signals in the medio-lateral (ML and anterior–posterior (AP directions. Data was analyzed using four-way mixed ANOVA. Increased EnHL values were observed for both groups (Time effect, p < 0.001 as the intervention progressed, suggesting neuromuscular adaptations in the control of posture. The EnHL of surrogate signals were significantly lower than for original signals (p < 0.001, confirming that these adaptations come from non-random control processes. There was no Group effect (p = 0.622, however by analyzing the significant Group by Direction by Time interaction (p < 0.05, a more pronounced effect in the ML direction of the perturbed group was observed. Altogether, our findings show that treadmill walking decreases

  19. BIOLOGY OF SOME NEUROMUSCULAR DISORDERS

    Directory of Open Access Journals (Sweden)

    Gerta Vrbova

    2004-12-01

    Full Text Available In order to understand and possibly interfere/ treat neuromuscular disorders it is important to analyze the biological events that may be causing the disability. We illustrate such attempts on two examples of genetically determined neuromuscular diseases: 1 Duchenne muscular dystrophy (DMD, and 2 Spinal muscular atrophy (SMA.DMD is an x-linked hereditary muscle disease that leads to progressive muscle weakness. The altered gene in DMD affects dystrophin, a muscle membrane associated proteine. Attempts were made to replace the deficient or missing gene/ protein into muscles of Duchenne children. Two main strategies were explored: 1 Myoblast and stem cell transfer and 2 Gene delivery. The possible use of methods other than the introduction of the missing gene for dystrophin into muscle fibres are based on the knowledge about the adaptive potential of muscle to different functional demands and the ability of the muscle to express a new set of genes in response to such stimuli. Stretch or overload is now known to lead to changes of gene expression in normal muscle, and the success of muscle stretch in the management of Duchenne boys is most likely to be due to such adaptive changes. Electrical stimulation of muscles is also a powerful stimulus for inducing the expression of new genes and this method too has produced beneficial effects on the progress of the disease in mice and men.SMA is a heterogeneous group of hereditary neuromuscular disorders where the loss of lower motoneurones leads to progressive weakness and muscle atrophy. The disease subdivides into 3 forms according to the severity of the symptoms and age of onset. All three forms of SMA have been mapped to chromosome 5q11.2-13.2. Clinical features of all these forms of SMA include hypotonia shortly after birth, symmetrical muscle weakness and atrophy, finger tremor, areflexia or hyporeflexia and later contractures. In patients with SMA 1 and 2 the development of all parts of the motor

  20. Role of the peripheral neuromuscular disturbances in the development of severe movement disorders in patients with cerebral palsy

    Directory of Open Access Journals (Sweden)

    A. L. Kurenkov

    2012-01-01

    Full Text Available The motor stereotype in patients with cerebral palsy (CP is determined by the magnitude of spasticity and central paresis of muscles, the impaired mechanisms of intermuscular interaction, and the presence of consensual reactions and pathologic synkineses. There are cases of a concomitance of the suprasegmental and segmental structures damages in CP. An attempt has been made to identify and estimate the contribution of the peripheral neuromuscular system lesion in CP patients in its late residual stage. Central nervous system lesion at the central and segmental levels were detected in 12.3% of cases in CP with spastic diplegia with progressive deformities of the lower extremities joints. Needle EMG is the most sensitive technique to detect a lesion at the segmental level: increased duration and higher amplitude motor unit potentials (MUPs and fewer recruited MUPs were registrated. A turn-amplitude analysis has indicated the shift of cloudy diagram to the left and upwards and the decreased ratio of the number of turns to their mean amplitude. The residual pattern of revealed changes is confirmed by the absence of signs of a current denervation process. The contribution of possible myelodysplasia and transneuronal degeneration of spinal motor neurons at the lumbosacral level to the clinical picture of the CP and orthopedic surgery and rehabilitation tactics are discussed.

  1. Standardized analysis and sharing of genome-phenome data for neuromuscular and rare disease research through the RD-Connect platform

    OpenAIRE

    Thompson, Rachel; Beltran, Sergi; Papakonstantinou, Anastasios; Cañada, Andrés; Fernández, Jose Maria; Thompson, Mark; Kaliyaperumal, Rajaram; Lair, Séverine; Sernadela, Pedro; Girdea, Marta; Brudno, Michael; Blavier, André; Lochmüller, Hanns; Roos, Andreas; Straub, Volker

    2016-01-01

    Abstract: RD-Connect (rd-connect.eu) is an EU-funded project building an integrated platform to narrow the gaps in rare disease research, where patient populations, clinical expertise and research communities are small in number and highly fragmented. Guided by the needs of rare disease researchers and with neuromuscular and neurodegenerative researchers as its original collaborators, the RD-Connect platform securely integrates multiple types of omics data (genomics, proteomics and transcript...

  2. The effect of ventilatory muscle training on respiratory function and capacity in ambulatory and bed-ridden patients with neuromuscular disease.

    Science.gov (United States)

    Gross, D; Meiner, Z

    1993-08-01

    Most patients with neuromuscular disease develop muscle weakness, including the ventilatory muscles leading to respiratory difficulty and, at times, respiratory insufficiency. We studied the effect of ventilatory muscle training on the ventilatory function and capacity of patients with various types of neuromuscular disease. The ambulatory patients were divided into three major groups. Group I (n = 6) patients with motor neuron disease (MND), such as amyotrophic latera sclerosis; Group II (n = 11) patients with myoneural junction disease (MNJ), such as myasthenia gravis and: Group III (n = 7) patients with muscle diseases such as progressive muscular disease. Patients were evaluated for their neuromuscular diagnosis and status of the disease. A complete physical examination and the various neuromuscular tests were performed. A complete respiratory evaluation was applied: pulmonary function tests (PFT), maximum inspiratory pressure (MIP). Patients then started ventilatory muscle training by resistive breathing, as a prophylactic treatment, for 10 min, three times daily, with a resistance which would induce fatigue. All tests were repeated every six weeks, and the results were as follow: forced vital capacity (FVC) changed from 38.8 +/- 12.3 to 53.2 +/- 9.6% (NS) of predicted value in group I, from 49.8 +/- 8.7 to 66.1 +/- 7.5% (p < 0.002) in group II, and from 47.0 +/- 7.5 to 53.3 +/- 7.6% (p < 0.04) in group III. Forced expiratory volume in one second (FEV1) was 34.8 +/- 11.0, 46.3 +/- 5, and 45.1 +/- 9% for the three groups, respectively, and did not change with training.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. Fatigue and multidimensional disease severity in chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Inal-Ince Deniz

    2010-06-01

    Full Text Available Abstract Background and aims Fatigue is associated with longitudinal ratings of health in patients with chronic obstructive pulmonary disease (COPD. Although the degree of airflow obstruction is often used to grade disease severity in patients with COPD, multidimensional grading systems have recently been developed. The aim of this study was to investigate the relationship between perceived and actual fatigue level and multidimensional disease severity in patients with COPD. Materials and methods Twenty-two patients with COPD (aged 52-74 years took part in the study. Multidimensional disease severity was measured using the SAFE and BODE indices. Perceived fatigue was assessed using the Fatigue Severity Scale (FSS and the Fatigue Impact Scale (FIS. Peripheral muscle endurance was evaluated using the number of sit-ups, squats, and modified push-ups that each patient could do. Results Thirteen patients (59% had severe fatigue, and their St George's Respiratory Questionnaire scores were significantly higher (p Conclusions Peripheral muscle endurance and fatigue perception in patients with COPD was related to multidimensional disease severity measured with both the SAFE and BODE indices. Improvements in perceived and actual fatigue levels may positively affect multidimensional disease severity and health status in COPD patients. Further research is needed to investigate the effects of fatigue perception and exercise training on patients with different stages of multidimensional COPD severity.

  4. Determinants of severe periodontal disease among diabetes ...

    African Journals Online (AJOL)

    Aim: To determine the prevalence and factors associated with severe periodontal disease among diabetic patients. Design: Cross sectional study. Study subjects and methods: Diabetes mellitus patients visiting their regularly scheduled medical review at NCH Diabetic clinic participated in the study. Data collection was ...

  5. Severe chronic allergic (and related) diseases

    DEFF Research Database (Denmark)

    Bousquet, J; Anto, J M; Demoly, P

    2012-01-01

    -up. Control is the degree to which therapy goals are currently met. These concepts have evolved over time for asthma in guidelines, task forces or consensus meetings. The aim of this paper is to generalize the approach of the uniform definition of severe asthma presented to WHO for chronic allergic...... and associated diseases (rhinitis, chronic rhinosinusitis, chronic urticaria and atopic dermatitis) in order to have a uniform definition of severity, control and risk, usable in most situations. It is based on the appropriate diagnosis, availability and accessibility of treatments, treatment responsiveness...... and associated factors such as comorbidities and risk factors. This uniform definition will allow a better definition of the phenotypes of severe allergic (and related) diseases for clinical practice, research (including epidemiology), public health purposes, education and the discovery of novel therapies....

  6. Neuromuscular Electrical Stimulation Versus Traditional Therapy in Patients with Parkinson’s Disease and Oropharyngeal Dysphagia: Effects on Quality of Life

    OpenAIRE

    Heijnen, B. J.; Speyer, R.; Baijens, L. W. J.; Bogaardt, H. C. A.

    2011-01-01

    This study compares the effects of traditional logopedic dysphagia treatment with those of neuromuscular electrical stimulation (NMES) as adjunct to therapy on the quality of life in patients with Parkinson’s disease and oropharyngeal dysphagia. Eighty-eight patients were randomized over three treatment groups. Traditional logopedic dysphagia treatment and traditional logopedic dysphagia treatment combined with NMES at sensor or motor level stimulation were compared. At three times (pretreatm...

  7. Feasibility of neuromuscular training in patients with severe hip or knee OA: The individualized goal-based NEMEX-TJR training program

    Directory of Open Access Journals (Sweden)

    Link Anne

    2010-06-01

    Full Text Available Abstract Background Although improvements are achieved by general exercise, training to improve sensorimotor control may be needed for people with osteoarthritis (OA. The aim was to apply the principles of neuromuscular training, which have been successfully used in younger and middle-aged patients with knee injuries, to older patients with severe hip or knee OA. We hypothesized that the training program was feasible, determined as: 1 at most acceptable self-reported pain following training; 2 decreased or unchanged pain during the training period; 3 few joint specific adverse events related to training, and 4 achieved progression of training level during the training period. Methods Seventy-six patients, between 60 and 77 years, with severe hip (n = 38, 55% women or knee OA (n = 38, 61% women underwent an individualized, goal-based neuromuscular training program (NEMEX-TJR in groups for a median of 11 weeks (quartiles 7 to 15 prior to total joint replacement (TJR. Pain was self-reported immediately after each training session on a 0 to 10 cm, no pain to pain as bad as it could be, scale, where 0-2 indicates safe, > 2 to 5 acceptable and > 5 high risk pain. Joint specific adverse events were: not attending or ceasing training because of increased pain/problems in the index joint related to training, and self-reported pain > 5 after training. The level of difficulty of training was registered. Results Patients with severe OA of the hip or knee reported safe pain (median 2 cm after training. Self-reported pain was lower at training sessions 10 and 20 (p = 0.04 and unchanged at training sessions 5 and 15 (p = 0.170, p = 0.161 compared with training session 1. There were no joint specific adverse events in terms of not attending or ceasing training. Few patients (n = 17, 22% reported adverse events in terms of self-reported pain > 5 after one or more training sessions. Progression of training level was achieved over time (p Conclusions The NEMEX

  8. FUNCTIONS OF A NEUROMUSCULAR CENTRE

    Directory of Open Access Journals (Sweden)

    Janez Zidar

    2004-12-01

    Full Text Available Main functions of a neuromuscular (NM centre are making diagnosis, treatment and counselling. Some other functions, e. g. forming a register and epidemiological endeavours, could be added. All these activities are expected to be achieved by multidisciplinary approach with the idea that members use the same guidelines and share the same knowledge.NM diseases affect lower levels of the nervous system that is motor units (motor cells in the brainstem and spinal cord, nerve roots, cranial and peripheral nerves, neuromuscular junction, and muscles. There are many such diseases; a few are more common others are rare.Rational approach in making a diagnosis can be divided into several steps. The process begins with a person with clinical symptoms and signs which raise the suspicion of NM disease. The first step is the description of the predominant pattern of muscular wasting and weakness (e. g. limb-girdle, distal, ocular, facio-scapulo-humeral. Each of these syndromes require a differential diagnosis within the motor unit territory what is achieved by means of EMG and muscle biopsy. The latter is even more important to define the nature of the abnormality. Disease nature can also be determined biochemically and, as NM disorders are commonly genetically determined, at the molecular genetic level. Treatment modalities include drugs (causative and symptomatic and other measures such as promoting and maintaining good general health, preventing skeletal deformities, physiotherapy, orthoses, surgery, and prevention of respiratory and cardiac functions. Counselling is mainly by social workers that focus on the practical aspects of coping with illness and disability and by genetic counsellors who gave advise on family planning.

  9. COPD exacerbations by disease severity in England

    Directory of Open Access Journals (Sweden)

    Merinopoulou E

    2016-04-01

    Full Text Available Evie Merinopoulou,1 Mireia Raluy-Callado,1 Sreeram Ramagopalan,1 Sharon MacLachlan,1 Javaria Mona Khalid2 1Real-World Evidence, Evidera, 2Takeda Development Centre Europe Ltd, London, UK Objectives: Exacerbations of chronic obstructive pulmonary disease (COPD are associated with accelerated disease progression and are important drivers of health care resource utilization. The study aimed to quantify the rates of COPD exacerbations in England and assess health care resource utilization by severity categories according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD 2013.Methods: Data from the Clinical Practice Research Datalink linked to Hospital Episode Statistics were used to identify patients with a COPD diagnosis aged ≥40 years. Those with complete spirometric, modified Medical Research Council Dyspnea Scale information, and exacerbation history 12 months prior to January 1, 2011 (index date were classified into GOLD severity groups. Study outcomes over follow-up (up to December 31, 2013 were exacerbation rates and resource utilization (general practitioner visits, hospital admissions.Results: From the 44,201 patients in the study cohort, 83.5% were classified into severity levels GOLD A: 33.8%, GOLD B: 21.0%, GOLD C: 18.1%, and GOLD D: 27.0%. Mean age at diagnosis was 66 years and 52.0% were male. Annual exacerbation rates per person-year increased with severity, from 0.83 (95% confidence interval [CI]: 0.81–0.85 for GOLD A to 2.51 (95% CI: 2.47–2.55 for GOLD D. General practitioner visit rates per person-year also increased with severity, from 4.82 (95% CI: 4.74–4.93 for GOLD A to 7.44 (95% CI: 7.31–7.61 for GOLD D. COPD-related hospitalization rates per person-year increased from less symptoms (GOLD A: 0.28, GOLD C: 0.39 to more symptoms (GOLD B: 0.52, GOLD D: 0.84.Conclusion: Patients in the most severe category (GOLD D experienced nearly three times the number of exacerbations and COPD

  10. Clinical strategies for complete denture rehabilitation in a patient with Parkinson disease and reduced neuromuscular control.

    Science.gov (United States)

    Haralur, Satheesh B

    2015-01-01

    The dentist has a large role in geriatric health care for the ever increasing elder population with associated physical and neurological disorders. The Parkinson disease is progressive neurological disorder with resting tremor, bradykinesia, akinesia, and postural instability. The psychological components of disease include depression, anxiety, and cognitive deficiency. Poor oral hygiene, increased susceptibility for dental caries, and periodontal diseases predispose them to early edentulism. The number of Parkinson affected patients visiting dental clinic seeking complete denture is growing. This case report explains the steps involved in the complete denture rehabilitation of Parkinson patient. The effective prosthesis will help in alleviating functional, aesthetic, and psychological disabilities of the patient.

  11. Clinical Strategies for Complete Denture Rehabilitation in a Patient with Parkinson Disease and Reduced Neuromuscular Control

    Directory of Open Access Journals (Sweden)

    Satheesh B. Haralur

    2015-01-01

    Full Text Available The dentist has a large role in geriatric health care for the ever increasing elder population with associated physical and neurological disorders. The Parkinson disease is progressive neurological disorder with resting tremor, bradykinesia, akinesia, and postural instability. The psychological components of disease include depression, anxiety, and cognitive deficiency. Poor oral hygiene, increased susceptibility for dental caries, and periodontal diseases predispose them to early edentulism. The number of Parkinson affected patients visiting dental clinic seeking complete denture is growing. This case report explains the steps involved in the complete denture rehabilitation of Parkinson patient. The effective prosthesis will help in alleviating functional, aesthetic, and psychological disabilities of the patient.

  12. [Characteristics of neuromuscular scoliosis].

    Science.gov (United States)

    Putzier, M; Groß, C; Zahn, R K; Pumberger, M; Strube, P

    2016-06-01

    Usually, neuromuscular scolioses become clinically symptomatic relatively early and are rapidly progressive even after the end of growth. Without sufficient treatment they lead to a severe reduction of quality of life, to a loss of the ability of walking, standing or sitting as well as to an impairment of the cardiopulmonary system resulting in an increased mortality. Therefore, an intensive interdisciplinary treatment by physio- and ergotherapists, internists, pediatricians, orthotists, and orthopedists is indispensable. In contrast to idiopathic scoliosis the treatment of patients with neuromuscular scoliosis with orthosis is controversially discussed, whereas physiotherapy is established and essential to prevent contractures and to maintain the residual sensorimotor function.Frequently, the surgical treatment of the scoliosis is indicated. It should be noted that only long-segment posterior correction and fusion of the whole deformity leads to a significant improvement of the quality of life as well as to a prevention of a progression of the scoliosis and the development of junctional problems. The surgical intervention is usually performed before the end of growth. A prolonged delay of surgical intervention does not result in an increased height but only in a deformity progression and is therefore not justifiable. In early onset neuromuscular scolioses guided-growth implants are used to guarantee the adequat development. Because of the high complication rates, further optimization of these implant systems with regard to efficiency and safety have to be addressed in future research.

  13. Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

    Directory of Open Access Journals (Sweden)

    Natalia Rodriguez-Muela

    2017-02-01

    Full Text Available The mechanism underlying selective motor neuron (MN death remains an essential question in the MN disease field. The MN disease spinal muscular atrophy (SMA is attributable to reduced levels of the ubiquitous protein SMN. Here, we report that SMN levels are widely variable in MNs within a single genetic background and that this heterogeneity is seen not only in SMA MNs but also in MNs derived from controls and amyotrophic lateral sclerosis (ALS patients. Furthermore, cells with low SMN are more susceptible to cell death. These findings raise the important clinical implication that some SMN-elevating therapeutics might be effective in MN diseases besides SMA. Supporting this, we found that increasing SMN across all MN populations using an Nedd8-activating enzyme inhibitor promotes survival in both SMA and ALS-derived MNs. Altogether, our work demonstrates that examination of human neurons at the single-cell level can reveal alternative strategies to be explored in the treatment of degenerative diseases.

  14. Disease severity in familial cases of IBD.

    Science.gov (United States)

    Andreu, M; Márquez, L; Domènech, E; Gisbert, J P; García, V; Marín-Jiménez, I; Peñalva, M; Gomollón, F; Calvet, X; Merino, O; Garcia-Planella, E; Vázquez-Romero, N; Esteve, M; Nos, P; Gutiérrez, A; Vera, I; Cabriada, J L; Martín, M D; Cañas-Ventura, A; Panés, J

    2014-03-01

    Phenotypic traits of familial IBD relative to sporadic cases are controversial, probably related to limited statistical power of published evidence. To know if there are phenotype differences between familial and sporadic IBD, evaluating the prospective Spanish registry (ENEIDA) with 11,983 cases. 5783 patients (48.3%) had ulcerative colitis (UC) and 6200 (51.7%) Crohn's disease (CD). Cases with one or more 1st, 2nd or 3rd degree relatives affected by UC/CD were defined as familial case. In UC and CD, familial cases compared with sporadic cases had an earlier disease onset (UC: 33 years [IQR 25-44] vs 37 years [IQR 27-49]; p<0.0001); (CD: 27 years [IQR 21-35] vs 29 years [IQR 22-40]; p<0.0001), higher prevalence of extraintestinal immune-related manifestations (EIMs) (UC: 17.2% vs 14%; p=0.04); (CD: 30.1% vs 23.6%; p<0.0001). Familial CD had higher percentage of ileocolic location (42.7% vs 51.8%; p=0.0001), penetrating behavior (21% vs 17.6%; p=0.01) and perianal disease (32% vs 27.1%; p=0.003). Differences are not influenced by degree of consanguinity. When a sufficiently powered cohort is evaluated, familial aggregation in IBD is associated to an earlier disease onset, more EIMs and more severe phenotype in CD. This feature should be taken into account at establishing predictors of disease course. © 2013.

  15. Hand function with touch screen technology in children with normal hand formation, congenital differences, and neuromuscular disease.

    Science.gov (United States)

    Shin, David H; Bohn, Deborah K; Agel, Julie; Lindstrom, Katy A; Cronquist, Sara M; Van Heest, Ann E

    2015-05-01

    To measure and compare hand function for children with normal hand development, congenital hand differences (CHD), and neuromuscular disease (NMD) using a function test with touch screen technology designed as an iPhone application. We measured touch screen hand function in 201 children including 113 with normal hand formation, 43 with CHD, and 45 with NMD. The touch screen test was developed on the iOS platform using an Apple iPhone 4. We measured 4 tasks: touching dots on a 3 × 4 grid, dragging shapes, use of the touch screen camera, and typing a line of text. The test takes 60 to 120 seconds and includes a pretest to familiarize the subject with the format. Each task is timed independently and the overall time is recorded. Children with normal hand development took less time to complete all 4 subtests with increasing age. When comparing children with normal hand development with those with CHD or NMD, in children aged less than 5 years we saw minimal differences; those aged 5 to 6 years with CHD took significantly longer total time; those aged 7 to 8 years with NMD took significantly longer total time; those aged 9 to 11 years with CHD took significantly longer total time; and those aged 12 years and older with NMD took significantly longer total time. Touch screen technology has becoming increasingly relevant to hand function in modern society. This study provides standardized age norms and shows that our test discriminates between normal hand development and that in children with CHD or NMD. Diagnostic III. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  16. Efficacy, safety and pharmacokinetics of sugammadex 4 mg kg-1 for reversal of deep neuromuscular blockade in patients with severe renal impairment.

    Science.gov (United States)

    Panhuizen, I F; Gold, S J A; Buerkle, C; Snoeck, M M J; Harper, N J N; Kaspers, M J G H; van den Heuvel, M W; Hollmann, M W

    2015-05-01

    This study evaluated efficacy and safety of sugammadex 4 mg kg(-1) for deep neuromuscular blockade (NMB) reversal in patients with severe renal impairment (creatinine clearance [CLCR] Sugammadex 4 mg kg(-1) was administered at 1-2 post-tetanic counts for reversal of rocuronium NMB. Primary efficacy variable was time from sugammadex to recovery to train-of-four (T4/T1) ratio 0.9. Equivalence between groups was demonstrated if two-sided 95% CI for difference in recovery times was within -1 to +1 min interval. Pharmacokinetics of rocuronium and overall safety were assessed. The intent-to-treat group comprised 67 patients (renal n=35; control n=32). Median (95% CI) time from sugammadex to recovery to T4/T1 ratio 0.9 was 3.1 (2.4-4.6) and 1.9 (1.6-2.8) min for renal patients vs controls. Estimated median (95% CI) difference between groups was 1.3 (0.6-2.4) min; thus equivalence bounds were not met. One control patient experienced acceleromyography-determined NMB recurrence, possibly as a result of premature sugammadex (4 mg kg(-1)) administration, with no clinical evidence of NMB recurrence observed. Rocuronium, encapsulated by Sugammadex, was detectable in plasma at day 7 in 6 patients. Bioanalytical data for sugammadex were collected but could not be used for pharmacokinetics. Sugammadex 4 mg kg(-1) provided rapid reversal of deep rocuronium-induced NMB in renal and control patients. However, considering the prolonged sugammadex-rocuronium complex exposure in patients with severe renal impairment, current safety experience is insufficient to support recommended use of sugammadex in this population. NCT00702715. © The Author 2015. Published by Oxford University Press on behalf of the British Journal of Anaesthesia. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Stem cell therapy for severe autoimmune diseases

    Directory of Open Access Journals (Sweden)

    Marmont Alberto M.

    2002-01-01

    Full Text Available Intense immunosuppresion followed by alogenic or autogenic hematopoietic stem cell transplantation is a relatively recent procedure which was used for the first time in severe, refractory cases of systemic lupus erythematosus. Currently three agressive procedures are used in the treatment of autoimmune diseases: high dose chemotherapy without stem cell rescue, intense immunosuppression with subsequent infusion of the alogenic hematopoietic stem cell transplantation combined with or without the selection of CD34+ cells, and the autogenic hematopoietic stem cell transplantation. Proof of the graft-versus-leukemia effect observed define SCT as a form of immunotherapy, with additional evidence of an similar Graft-vs-Autoimmunity effect which is suggestive of a cure for autoimmune diseases in this type of therapy. The use of alogenic SCT improved due to its safety compared to autogenic transplantations. In this report, data of multiply sclerosis and systemic lupus erythematosus are reported, with the conclusion that Immunoablation followed by SCT is clearly indicated in such cases.

  18. Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    van der Wilt Gert-Jan

    2011-08-01

    Full Text Available Abstract Background Shared medical appointments are a series of one-to-one doctor-patient contacts, in presence of a group of 6-10 fellow patients. This group visits substitute the annual control visits of patients with the neurologist. The same items attended to in a one-to- one appointment are addressed. The possible advantages of a shared medical appointment could be an added value to the present management of neuromuscular patients. The currently problem-focused one-to-one out-patient visits often leave little time for the patient's psychosocial needs, patient education, and patient empowerment. Methods/design A randomized, prospective controlled study (RCT with a follow up of 6 months will be conducted to evaluate the clinical and cost-effectiveness of shared medical appointments compared to usual care for 300 neuromuscular patients and their partners at the Radboud University Nijmegen Medical Center. Every included patient will be randomly allocated to one of the two study arms. This study has been reviewed and approved by the medical ethics committee of the region Arnhem-Nijmegen, the Netherlands. The primary outcome measure is quality of life as measured by the EQ-5D, SF-36 and the Individualized neuromuscular Quality of Life Questionnaire. The primary analysis will be an intention-to-treat analysis on the area under the curve of the quality of life scores. A linear mixed model will be used with random factor group and fixed factors treatment, baseline score and type of neuromuscular disease. For the economic evaluation an incremental cost-effectiveness analysis will be conducted from a societal perspective, relating differences in costs to difference in health outcome. Results are expected in 2012. Discussion This study will be the first randomized controlled trial which evaluates the effect of shared medical appointments versus usual care for neuromuscular patients. This will enable to determine if there is additional value of shared

  19. A painless and constraint-free method to estimate viscoelastic passive dynamics of limbs' joints to support diagnosis of neuromuscular diseases.

    Science.gov (United States)

    Venture, Gentiane; Nakamura, Yoshihiko; Yamane, Katsu; Hirashima, Masaya

    2007-01-01

    Though seldom identified, the human joints dynamics is important in the fields of medical robotics and medical research. We present a general solution to estimate in-vivo and simultaneously the passive dynamics of the human limbs' joints. It is based on the use of the multi-body description of the human body and its kinematics and dynamics computations. The linear passive joint dynamics of the shoulders and the elbows: stiffness, viscosity and friction, is estimated simultaneously using the linear least squares method. Acquisition of movements is achieved with an optical motion capture studio on one examinee during the clinical diagnosis of neuromuscular diseases. Experimental results are given and discussed.

  20. Sarcoidosis: assessment of disease severity using HRCT

    Energy Technology Data Exchange (ETDEWEB)

    Drent, Marjolein [Department of Respiratory Medicine, University Hospital of Maastricht, P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Nutrition and Toxicology Research Institute Maastricht (NUTRIM), P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Sarcoidosis Management Center, University Hospital of Maastricht, P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Vries, Jolanda De [Department of Clinical Health Psychology, Tilburg University, P.O. Box 90153, 5000, LE Tilburg (Netherlands); Lenters, Merinke; Wouters, Emiel F.M. [Department of Respiratory Medicine, University Hospital of Maastricht, P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Nutrition and Toxicology Research Institute Maastricht (NUTRIM), P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Lamers, Rob J.S. [Department of Radiology, University Hospital of Maastricht, P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Rothkranz-Kos, Snjezana; Dieijen-Visser, Marja P. van [Nutrition and Toxicology Research Institute Maastricht (NUTRIM), P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Department of Clinical Chemistry, University Hospital of Maastricht, P.O. Box 5800, 6202, AZ Maastricht (Netherlands); Verschakelen, Johny A. [Department of Radiology, Catholic University, 3000, Leuven (Belgium)

    2003-11-01

    The value of high-resolution computed tomography (HRCT) in diagnosing and assessing inflammatory activity in sarcoidosis is well established. The aim of the present study was to address the intra- and inter-observer agreements of the HRCT score by Oberstein et al. [8], and to evaluate the relationship between HRCT findings and disease severity expressed in respiratory functional impairment in sarcoidosis. The clinical records of 80 known sarcoidosis patients visiting the outpatient clinic between January 2000 and August 2001, who underwent a HRCT as well as lung function tests (including exercise testing), were reviewed. Two readers scored the first 60 HRCT images twice. Weighted kappa and intra-class correlation coefficient were used to assess the reliability of the HRCT scoring system. Spearman's rank correlation coefficients and multiple regression analyses were performed to evaluate the relationship between HRCT findings (first reading, reader A) and respiratory functional impairment. Intra- and inter-reader reliability demonstrated good agreement. All HRCT subscores, except enlargement of lymph nodes, were correlated to the FEV{sub 1}, FVC, DLco, Pao{sub 2}max (all p<0.05) and A-aPo{sub 2}max (p <0.001). Furthermore, HRCT abnormalities, but not the chest radiographic stage, were strongly associated with functional parameters. Abnormal changes of lung parenchyma, established by HRCT features, were associated with respiratory functional impairment in sarcoidosis. Moreover, compared with the radiographic stages, HRCT findings appeared to be much more sensitive in depicting respiratory disability, especially abnormal gas exchange. (orig.)

  1. Sarcoidosis: assessment of disease severity using HRCT

    International Nuclear Information System (INIS)

    Drent, Marjolein; Vries, Jolanda De; Lenters, Merinke; Wouters, Emiel F.M.; Lamers, Rob J.S.; Rothkranz-Kos, Snjezana; Dieijen-Visser, Marja P. van; Verschakelen, Johny A.

    2003-01-01

    The value of high-resolution computed tomography (HRCT) in diagnosing and assessing inflammatory activity in sarcoidosis is well established. The aim of the present study was to address the intra- and inter-observer agreements of the HRCT score by Oberstein et al. [8], and to evaluate the relationship between HRCT findings and disease severity expressed in respiratory functional impairment in sarcoidosis. The clinical records of 80 known sarcoidosis patients visiting the outpatient clinic between January 2000 and August 2001, who underwent a HRCT as well as lung function tests (including exercise testing), were reviewed. Two readers scored the first 60 HRCT images twice. Weighted kappa and intra-class correlation coefficient were used to assess the reliability of the HRCT scoring system. Spearman's rank correlation coefficients and multiple regression analyses were performed to evaluate the relationship between HRCT findings (first reading, reader A) and respiratory functional impairment. Intra- and inter-reader reliability demonstrated good agreement. All HRCT subscores, except enlargement of lymph nodes, were correlated to the FEV 1 , FVC, DLco, Pao 2 max (all p 2 max (p <0.001). Furthermore, HRCT abnormalities, but not the chest radiographic stage, were strongly associated with functional parameters. Abnormal changes of lung parenchyma, established by HRCT features, were associated with respiratory functional impairment in sarcoidosis. Moreover, compared with the radiographic stages, HRCT findings appeared to be much more sensitive in depicting respiratory disability, especially abnormal gas exchange. (orig.)

  2. Learn About Neuromuscular Disease

    Science.gov (United States)

    ... cause weakness and degeneration of the skeletal muscles. Becker muscular dystrophy (BMD) Congenital muscular dystrophies (CMD) Bethlem CMD Fukuyama ... Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Myotonia ... muscular dystrophy Vocal cord and pharyngeal distal myopathy Welander distal ...

  3. Genetics and Neuromuscular Diseases

    Science.gov (United States)

    ... Testing that reveals a young child’s genet- ic destiny may affect relationships within the family or may ... linked inheritance don’t apply at all. An embryo receives its mitochondria from the mother’s egg cell, ...

  4. Neuromuscular control and ankle instability.

    Science.gov (United States)

    Gutierrez, Gregory M; Kaminski, Thomas W; Douex, Al T

    2009-04-01

    Lateral ankle sprains (LAS) are common injuries in athletics and daily activity. Although most are resolved with conservative treatment, others develop chronic ankle instability (AI)-a condition associated with persistent pain, weakness, and instability-both mechanical (such as ligamentous laxity) and functional (neuromuscular impairment with or without mechanical laxity). The predominant theory in AI is one of articular deafferentation from the injury, affecting closed-loop (feedback/reflexive) neuromuscular control, but recent research has called that theory into question. A considerable amount of attention has been directed toward understanding the underlying causes of this pathology; however, little is known concerning the neuromuscular mechanisms behind the development of AI. The purpose of this review is to summarize the available literature on neuromuscular control in uninjured individuals and individuals with AI. Based on available research and reasonable speculation, it seems that open-loop (feedforward/anticipatory) neuromuscular control may be more important for the maintenance of dynamic joint stability than closed-loop control systems that rely primarily on proprioception. Therefore, incorporating perturbation activities into patient rehabilitation schemes may be of some benefit in enhancing these open-loop control mechanisms. Despite the amount of research conducted in this area, analysis of individuals with AI during dynamic conditions is limited. Future work should aim to evaluate dynamic perturbations in individuals with AI, as well as subjects who have a history of at least one LAS and never experienced recurrent symptoms. These potential findings may help elucidate some compensatory mechanisms, or more appropriate neuromuscular control strategies after an LAS event, thus laying the groundwork for future intervention studies that can attempt to reduce the incidence and severity of acute and chronic lateral ankle injury.

  5. Insuficiência respiratória crônica nas doenças neuromusculares: diagnóstico e tratamento Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Ilma Aparecida Paschoal

    2007-02-01

    Full Text Available As doenças neuromusculares prejudicam a renovação do ar alveolar e, por esta razão, produzem insuficiência respiratória crônica. A instalação da insuficiência respiratória pode acontecer de modo agudo, como nos traumas, ou ser lenta ou rapidamente progressiva, como na esclerose lateral amiotrófica, distrofias musculares, doença da placa mioneural, etc. O comprometimento da musculatura respiratória prejudica também a eficiência da tosse e, no estado atual da terapêutica disponível no Brasil para estes doentes, pode-se dizer que a morbimortalidade nestes indivíduos está mais associada ao fato de que eles tossem mal do que de que ventilam mal. Nesta revisão, uma breve compilação histórica procura mostrar a evolução das órteses e próteses respiratórias, desde o final do século XIX até agora, com o objetivo de apresentar as opções de máquinas disponíveis para o suporte e substituição da ventilação nas doenças neuromusculares. Além disso, são enfatizados os elementos fundamentais para o diagnóstico da hipoventilação alveolar e da falência do mecanismo protetor da tosse: história clínica, determinação do pico de fluxo da tosse, medida da pressão expiratória máxima e da pressão inspiratória máxima, espirometria em dois decúbitos (sentado e supino, oximetria de pulso, capnografia e polissonografia. São apresentados os valores limites disponíveis na literatura tanto para a indicação do suporte noturno da ventilação como para a extensão do suporte para o período diurno. As manobras para incremento da eficiência da tosse são aqui também discutidas, assim como o momento adequado para sua introdução.Neuromuscular diseases affect alveolar air exchange and therefore cause chronic respiratory failure. The onset of respiratory failure can be acute, as in traumas, or progressive (slow or rapid, as in amyotrophic lateral sclerosis, muscular dystrophies, diseases of the myoneural junction, etc

  6. Objective neuromuscular monitoring of neuromuscular blockade in Denmark

    DEFF Research Database (Denmark)

    Söderström, C M; Eskildsen, K Z; Gätke, M R

    2017-01-01

    BACKGROUND: Neuromuscular blocking agents are commonly used during general anaesthesia but can lead to postoperative residual neuromuscular blockade and associated morbidity. With appropriate objective neuromuscular monitoring (objNMM) residual blockade can be avoided. In this survey, we investig...

  7. Predicting global variation in infectious disease severity

    DEFF Research Database (Denmark)

    Jensen, Per Moestrup; de Fine Licht, Henrik Hjarvard

    2016-01-01

    demographic and population data. Results: Birth rates were the best predictor for mumps and malaria CFR. For tuberculosis CFR death rates were the best predictor and for leptospirosis population density was a significant predictor. Conclusions and implications: CFR predictors differed among diseases according...... and leptospirosis and assessed these for association with a range of population characteristics, such as crude birth and death rates, median age of the population, mean body mass index, proportion living in urban areas and tuberculosis vaccine coverage. We then tested this predictive model on Danish his- torical...... have the opposite effect. Accordingly changes in CFR may occur in parallel with demographic transitions. Methodology: We explored the predictability of CFR using data obtained from the World Health Organization (WHO) disease databases for four human diseases: mumps, malaria, tuberculosis...

  8. Dengue-associated neuromuscular complications

    OpenAIRE

    Ravindra Kumar Garg; Hardeep Singh Malhotra; Amita Jain; Kiran Preet Malhotra

    2015-01-01

    Dengue is associated with many neurological dysfunctions. Up to 4% of dengue patients may develop neuromuscular complications. Muscle involvement can manifest with myalgias, myositis, rhabdomyolysis and hypokalemic paralysis. Diffuse myalgia is the most characteristic neurological symptom of dengue fever. Dengue-associated myositis can be of varying severity ranging from self-limiting muscle involvement to severe dengue myositis. Dengue-associated hypokalemic paralysis often has a rapidly evo...

  9. [The hip joint in neuromuscular disorders].

    Science.gov (United States)

    Strobl, W M

    2009-07-01

    Physiologic motor and biomechanical parameters are prerequisites for normal hip development and hip function. Disorders of muscle activity and lack of weight bearing due to neuromuscular diseases may cause clinical symptoms such as an unstable hip or reduced range of motion. Disability and handicap because of pain, hip dislocation, osteoarthritis, gait disorders, or problems in seating and positioning are dependent on the severity of the disease, the time of occurrence, and the means of prevention and treatment. Preservation of pain-free and stable hip joints should be gained by balancing muscular forces and by preventing progressive dislocation. Most important is the exact indication of therapeutic options such as movement and standing therapy as well as drugs and surgery.

  10. Skin diseases: prevalence and predictors of itch and disease severity.

    NARCIS (Netherlands)

    Verhoeven, E.W.M.

    2009-01-01

    Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General

  11. Sugammadex: A Review of Neuromuscular Blockade Reversal.

    Science.gov (United States)

    Keating, Gillian M

    2016-07-01

    Sugammadex (Bridion(®)) is a modified γ-cyclodextrin that reverses the effect of the steroidal nondepolarizing neuromuscular blocking agents rocuronium and vecuronium. Intravenous sugammadex resulted in rapid, predictable recovery from moderate and deep neuromuscular blockade in patients undergoing surgery who received rocuronium or vecuronium. Recovery from moderate neuromuscular blockade was significantly faster with sugammadex 2 mg/kg than with neostigmine, and recovery from deep neuromuscular blockade was significantly faster with sugammadex 4 mg/kg than with neostigmine or spontaneous recovery. In addition, recovery from neuromuscular blockade was significantly faster when sugammadex 16 mg/kg was administered 3 min after rocuronium than when patients spontaneously recovered from succinylcholine. Sugammadex also demonstrated efficacy in various special patient populations, including patients with pulmonary disease, cardiac disease, hepatic dysfunction or myasthenia gravis and morbidly obese patients. Intravenous sugammadex was generally well tolerated. In conclusion, sugammadex is an important option for the rapid reversal of rocuronium- or vecuronium-induced neuromuscular blockade.

  12. TEACHING NEUROMUSCULAR RELAXATION.

    Science.gov (United States)

    NORRIS, JEANNE E.; STEINHAUS, ARTHUR H.

    THIS STUDY ATTEMPTED TO FIND OUT WHETHER (1) THE METHODS FOR ATTAINING NEUROMUSCULAR RELAXATION THAT HAVE PROVED FRUITFUL IN THE ONE-TO-ONE RELATIONSHIP OF THE CLINIC CAN BE SUCCESSFULLY ADAPTED TO THE TEACHER-CLASS RELATIONSHIP OF THE CLASSROOM AND GYMNASIUM, AND (2) NEUROMUSCULAR RELAXATION CAN BE TAUGHT SUCCESSFULLY BY AN APPROPRIATELY TRAINED…

  13. Learning disabilities in neuromuscular disorders: a springboard for adult life.

    Science.gov (United States)

    Astrea, Guja; Battini, Roberta; Lenzi, Sara; Frosini, Silvia; Bonetti, Silvia; Moretti, Elena; Perazza, Silvia; Santorelli, Filippo M; Pecini, Chiara

    2016-10-01

    Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form). Starting from the Duchenne muscular dystrophy, which may be considered a kind of paradigm for the co-occurrence of learning disabilities in the contest of a progressive muscular involvement, the findings of neuropsychological (or cognitive) dysfunctions in several forms of neuromuscular diseases will be examined and reviewed.

  14. Plantar pressures in children with and without sever's disease.

    Science.gov (United States)

    Becerro de Bengoa Vallejo, Ricardo; Losa Iglesias, Marta Elena; Rodríguez Sanz, David; Prados Frutos, Juan Carlos; Salvadores Fuentes, Paloma; Chicharro, José López

    2011-01-01

    a case-control study was conducted to compare static plantar pressures and distribution of body weight across the two lower limbs, as well as the prevalence of gastrocnemius soleus equinus, in children with and without calcaneal apophysitis (Sever's disease). the participants were 54 boys enrolled in a soccer academy, of which eight were lost to follow-up. Twenty-two boys with unilateral Sever's disease comprised the Sever's disease group and 24 healthy boys constituted a control group. Plantar pressure data were collected using pedobarography, and gastrocnemius soleus equinus was assessed. peak pressure and percentage of body weight supported were significantly higher in the symptomatic feet of the Sever's disease group than in the asymptomatic feet of the Sever's disease group and the control group. Every child in the Sever's disease group had bilateral gastrocnemius equinus, while nearly all children in the control group had no equinus. high plantar foot pressures are associated with Sever's disease, although it is unclear whether they are a predisposing factor or a result of the condition. Gastrocnemius equinus may be a predisposing factor for Sever's disease. Further research is needed to identify other factors involved in the disease and to better understand the factors that contribute to abnormal distribution of body weight in the lower limbs.

  15. Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies

    Directory of Open Access Journals (Sweden)

    Poliana C. M. Martins

    2013-09-01

    Although muscular dystrophies are among the most common human genetic disorders, there are few treatment options available. Animal models have become increasingly important for testing new therapies prior to entering human clinical trials. The Dmdmdx mouse is the most widely used animal model for Duchenne muscular dystrophy (DMD, presenting the same molecular and protein defect as seen in humans with the disease. However, this mouse is not useful for clinical trials because of its very mild phenotype. The mouse model for congenital myodystrophy type 1D, Largemyd, harbors a mutation in the glycosyltransferase Large gene and displays a severe phenotype. To help elucidate the role of the proteins dystrophin and LARGE in the organization of the dystrophin-glycoprotein complex in muscle sarcolemma, we generated double-mutant mice for the dystrophin and LARGE proteins. The new Dmdmdx/Largemyd mouse model is viable and shows a severe phenotype that is associated with the lack of dystrophin in muscle. We tested the usefulness of our new mouse model for cell therapy by systemically injecting them with normal murine mesenchymal adipose stem cells (mASCs. We verified that the mASCs were hosted in the dystrophic muscle. The new mouse model has proven to be very useful for the study of several other therapies, because injected cells can be screened both through DNA and protein analysis. Study of its substantial muscle weakness will also be very informative in the evaluation of functional benefits of these therapies.

  16. MRI in neuromuscular disorders; MRT bei neuromuskulaeren Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Fischmann, Arne [Klinik St. Anna, Luzern (Switzerland). Inst. fuer Radiologie und Nuklearmedizin; Fischer, Dirk [Kantonsspital Bruderholz (Switzerland)

    2014-03-15

    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. (orig.)

  17. Distribution, incidence and severity of viral diseases of yam ...

    African Journals Online (AJOL)

    A survey was conducted in major yam cultivation zones in Côte d'Ivoire in 2009 to determine the incidence, severity of viral diseases, and viruses associated with the infected plants. Incidence and severity of the viral diseases were estimated based on symptoms. Enzyme-linked immunosorbent assay (ELISA) and ...

  18. Lung inhalation scintigraphy with radioactive aerosols in several pulmonary diseases

    International Nuclear Information System (INIS)

    Martins, L.R.; Marioni Filho, H.; Romaldini, H.; Uehara, C.; Alonso, G.

    1983-01-01

    The pulmonary ventilation scintigraphy with 99m Tc diethylene-triamine-pentaacetate (99mTc-DTPA) delivered through a new nebulizer system when analyzed together with the classic lung perfusion scintigraphy with 99mTc-labeled albumin macroaggregates (99mTcMAA) is a very important diagnostic tool in several pulmonary diseases. Several aspects of the lung ventilation-perfusion scintigraphy are studied in 15 people with no lung disease, smokers and nonsmokers. The findings with the lung ventilation-perfusion scintigraphy are also discussed in 34 patients with several pulmonary diseases: lung cancer, chronic obstructive lung disease, policystic pulmonary disease, and pulmonary embolims. The authors concluded that the procedure is a valuable diagnostic tool in several pulmonary diseases, especially because good lung images are obtained, no side effects were detected, the technique is ease and low cost, and it brings new informations, not available with other diagnostic methods. (author)

  19. Image registration for assessment of Crohn's disease severity

    NARCIS (Netherlands)

    Li, Z.

    2015-01-01

    Crohn’s disease (CD) is a chronic inflammatory bowel disease (IBD) that affects millions of people in Europe alone. It is important to accurately assess the disease severity in a safe and non-invasive manner in order to improve the treatment of patients with CD. Furthermore, the ideal assessment

  20. Identification of Changing Lower Limb Neuromuscular Activation in Parkinson’s Disease during Treadmill Gait with and without Levodopa Using a Nonlinear Analysis Index

    Directory of Open Access Journals (Sweden)

    Amir Pourmoghaddam

    2015-01-01

    Full Text Available Analysis of electromyographic (EMG data is a cornerstone of research related to motor control in Parkinson’s disease. Nonlinear EMG analysis tools have shown to be valuable, but analysis is often complex and interpretation of the data may be difficult. A previously introduced algorithm (SYNERGOS that provides a single index value based on simultaneous multiple muscle activations (MMA has been shown to be effective in detecting changes in EMG activation due to modifications of walking speeds in healthy adults. In this study, we investigated if SYNERGOS detects MMA changes associated with both different walking speeds and levodopa intake. Nine male Parkinsonian patients walked on a treadmill with increasing speed while on or off medication. We collected EMG data and computed SYNERGOS indices and employed a restricted maximum likelihood linear mixed model to the values. SYNERGOS was sensitive to neuromuscular modifications due to both alterations of gait speed and intake of levodopa. We believe that the current experiment provides evidence for the potential value of SYNERGOS as a nonlinear tool in clinical settings, by providing a single value index of MMA. This could help clinicians to evaluate the efficacy of interventions and treatments in Parkinson’s disease in a simple manner.

  1. Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders

    International Nuclear Information System (INIS)

    Hader, H.; Gadoth, N.; Heifetz, H.

    1983-01-01

    The physiologic replacement of the lower paraspinal muscles by fat was evaluated in 157 patients undergoing computed tomography for reasons unrelated to abnormalities of the locomotor system. Five patients with neuromuscular disorders were similarly evaluated. The changes were graded according to severity at three spinal levels: lower thoracic-upper lumbar, midlumbar, and lumbosacral. The results were analyzed in relation to age and gender. It was found that fatty replacement of paraspinal muscles is a normal age-progressive phenomenon most prominent in females. It progresses down the spine, being most advanced in the lumbosacral region. The severest changes in the five patients with neuromuscular disorders (three with poliomyelitis and two with progressive muscular dystrophy) consisted of complete muscle group replacement by fat. In postpoliomyelitis atrophy, the distribution was typically asymmetric and sometimes lacked clinical correlation. In muscular dystrophy, fatty replacement was symmetric, showing relative sparing of the psoas and multifidus muscles. In patients with neuromuscular diseases, computed tomography of muscles may be helpful in planning a better rehabilitation regimen

  2. Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders

    Energy Technology Data Exchange (ETDEWEB)

    Hader, H.; Gadoth, N.; Heifetz, H.

    1983-11-01

    The physiologic replacement of the lower paraspinal muscles by fat was evaluated in 157 patients undergoing computed tomography for reasons unrelated to abnormalities of the locomotor system. Five patients with neuromuscular disorders were similarly evaluated. The changes were graded according to severity at three spinal levels: lower thoracic-upper lumbar, midlumbar, and lumbosacral. The results were analyzed in relation to age and gender. It was found that fatty replacement of paraspinal muscles is a normal age-progressive phenomenon most prominent in females. It progresses down the spine, being most advanced in the lumbosacral region. The severest changes in the five patients with neuromuscular disorders (three with poliomyelitis and two with progressive muscular dystrophy) consisted of complete muscle group replacement by fat. In postpoliomyelitis atrophy, the distribution was typically asymmetric and sometimes lacked clinical correlation. In muscular dystrophy, fatty replacement was symmetric, showing relative sparing of the psoas and multifidus muscles. In patients with neuromuscular diseases, computed tomography of muscles may be helpful in planning a better rehabilitation regimen.

  3. Dysarthria of Motor Neuron Disease: Clinician Judgments of Severity.

    Science.gov (United States)

    Seikel, J. Anthony; And Others

    1990-01-01

    This study investigated the relationship between the temporal-acoustic parameters of the speech of 15 adults with motor neuron disease. Differences in predictions of the progression of the disease and clinician judgments of dysarthria severity were found to relate to the linguistic systems of both speaker and judge. (Author/JDD)

  4. Parenting Stress Related to Behavioral Problems and Disease Severity in Children with Problematic Severe Asthma

    NARCIS (Netherlands)

    Verkleij, Marieke; van de Griendt, Erik-Jonas; Colland, Vivian; van Loey, Nancy; Beelen, Anita; Geenen, Rinie

    2015-01-01

    Our study examined parenting stress and its association with behavioral problems and disease severity in children with problematic severe asthma. Research participants were 93 children (mean age 13.4 +/- A 2.7 years) and their parents (86 mothers, 59 fathers). As compared to reference groups

  5. Parenting Stress Related to Behavioral Problems and Disease Severity in Children with Problematic Severe Asthma

    NARCIS (Netherlands)

    Verkleij, Marieke; van de Griendt, E-J.; Colland, V.; Van Loey, N.E.E.; Beelen, A.; Geenen, R.

    2015-01-01

    Our study examined parenting stress and its association with behavioral problems and disease severity in children with problematic severe asthma. Research participants were 93 children (mean age 13.4 ± 2.7 years) and their parents (86 mothers, 59 fathers). As compared to reference groups analyzed in

  6. T2-Weighted Dixon Turbo Spin Echo for Accelerated Simultaneous Grading of Whole-Body Skeletal Muscle Fat Infiltration and Edema in Patients With Neuromuscular Diseases.

    Science.gov (United States)

    Schlaeger, Sarah; Klupp, Elisabeth; Weidlich, Dominik; Cervantes, Barbara; Foreman, Sarah C; Deschauer, Marcus; Schoser, Benedikt; Katemann, Christoph; Kooijman, Hendrik; Rummeny, Ernst J; Zimmer, Claus; Kirschke, Jan S; Karampinos, Dimitrios C

    2018-04-02

    The assessment of fatty infiltration and edema in the musculature of patients with neuromuscular diseases (NMDs) typically requires the separate performance of T1-weighted and fat-suppressed T2-weighted sequences. T2-weighted Dixon turbo spin echo (TSE) enables the generation of T2-weighted fat- and water-separated images, which can be used to assess both pathologies simultaneously. The present study examines the diagnostic performance of T2-weighted Dixon TSE compared with the standard sequences in 10 patients with NMDs and 10 healthy subjects. Whole-body magnetic resonance imaging was performed including T1-weighted Dixon fast field echo, T2-weighted short-tau inversion recovery, and T2-weighted Dixon TSE. Fatty infiltration and intramuscular edema were rated by 2 radiologists using visual semiquantitative rating scales. To assess intermethod and interrater agreement, weighted Cohen's κ coefficients were calculated. The ratings of fatty infiltration showed high intermethod and high interrater agreement (T1-weighted Dixon fast field echo vs T2-weighted Dixon TSE fat image). The evaluation of edematous changes showed high intermethod and good interrater agreement (T2-weighted short-tau inversion recovery vs T2-weighted Dixon TSE water image). T2-weighted Dixon TSE imaging is an alternative for accelerated simultaneous grading of whole-body skeletal muscle fat infiltration and edema in patients with NMDs.

  7. Intracerebral abscess: A complication of severe cystic fibrosis lung disease

    OpenAIRE

    Fenton, Mark E; Cockcroft, Donald W; Gjevre, John A

    2008-01-01

    Intracerebral abscess is an uncommon complication of severe cystic fibrosis lung disease. The present report describes a case of fatal multiple intracerebral abscesses in a patient with a severely bronchiectatic, nonfunctioning right lung and chronic low-grade infection. The patient was previously turned down for pneumonectomy. Intracerebral abscess in cystic fibrosis and the potential role of pneumonectomy in the present patient are discussed.

  8. Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.

    Science.gov (United States)

    Kim, Jeong-Ki; Caine, Charlotte; Awano, Tomoyuki; Herbst, Ruth; Monani, Umrao R

    2017-07-01

    Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of SMN deficiency are profound defects of the neuromuscular junctions (NMJs). In model mice these synapses appear disorganized, fail to mature and are characterized by poorly arborized nerve terminals. Given one role of the SMN protein in orchestrating the assembly of spliceosomal snRNP particles and subsequently regulating the alternative splicing of pre-mRNAs, a plausible link between SMN function and the distal neuromuscular SMA phenotype is an incorrectly spliced transcript or transcripts involved in establishing or maintaining NMJ structure. In this study, we explore the effects of one such transcript-Z+Agrin-known to be a critical organizer of the NMJ. We confirm that low SMN protein reduces motor neuronal levels of Z+Agrin. Repletion of this isoform of Agrin in the motor neurons of SMA model mice increases muscle fiber size, enhances the post-synaptic NMJ area, reduces the abnormal accumulation of intermediate filaments in nerve terminals of the neuromuscular synapse and improves the innervation of muscles. While these effects are independent of changes in SMN levels or increases in motor neuron numbers they nevertheless have a significant effect on the overall disease phenotype, enhancing mean survival in severely affected SMA model mice by ∼40%. We conclude that Agrin is an important target of the SMN protein and that mitigating NMJ defects may be one strategy in treating human spinal muscular atrophy. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Severe aplastic anaemia and Grave's disease in a paediatric patient.

    Science.gov (United States)

    Kumar, Manjusha; Goldman, Jeffrey

    2002-07-01

    Severe aplastic anaemia (SAA) is considered to be an autoimmune disorder affecting the haematopoietic cells and most often is idiopathic. An association between SAA and other autoimmune diseases is rare and has been described in adults for eosinophilic fasciitis, thymomas, systemic lupus erythematosus and thyroid disorders. We describe the first paediatric patient with chronic relapsing SAA and Grave's disease. We discuss the difficulty in diagnosis of Grave's disease, the possibility of its manifestation due to withdrawal of immunosuppressants, and issues to consider in the treatment of this disease in the setting of bone marrow failure.

  10. Computed tomography (CT) in neuromuscular disorders

    International Nuclear Information System (INIS)

    Novak, M.; Ambler, Z.

    1997-01-01

    For 24 patients with confirmed neuromuscular disorders, the clinical picture of the disease was complemented with CT examination. It is concluded, in accordance with the literature, that CT has a supplementary value as regards the extent and degree of disorder of the affected muscle groups. The basic pathological picture includes muscular atrophies, dystrophies, hypertrophies, and their combinations. The CT images are non-specific for the individual neuromuscular disorders and are of minor importance in the diagnostic process. 1 tab., 7 figs., 6 refs

  11. Research highlights of partial neuromuscular disorders

    Directory of Open Access Journals (Sweden)

    Cheng ZHANG

    2014-05-01

    Full Text Available In order to understand the latest progression on neuromuscular disorders for clinicians, this review screened and systemized the papers on neuromuscular disorders which were collected by PubMed from January 2013 to February 2014. This review also introduced the clinical diagnosis and treatment hightlights on glycogen storage disease type Ⅱ (GSD Ⅱ, Duchenne muscular dystrophy (DMD, amyotrophic lateral sclerosis (ALS and spinal muscular atrophy (SMA. The important references will be useful for clinicians. doi: 10.3969/j.issn.1672-6731.2014.05.004

  12. A systematic review and meta-analysis of lower limb neuromuscular alterations associated with knee osteoarthritis during level walking.

    Science.gov (United States)

    Mills, Kathryn; Hunt, Michael A; Leigh, Ryan; Ferber, Reed

    2013-08-01

    Neuromuscular alterations are increasingly reported in individuals with knee osteoarthritis (KOA) during level walking. We aimed to determine which neuromuscular alterations are consistent in KOA individuals and how these may be influenced by osteoarthritis severity, varus alignment and/or joint laxity. Electronic databases were searched up to July 2012. Cross-sectional observational studies comparing lower-limb neuromuscular activity in individuals with KOA, healthy controls or with different KOA cohorts were included. Two reviewers assessed methodological quality. Effect sizes were used to quantify the magnitude of observed differences. Where studies were homogenous, effect sizes were pooled using a fixed-effects model. Fourteen studies examining neuromuscular alterations in indices of co-contraction, muscle amplitude and muscle activity duration were included. Data pooling revealed that moderate KOA individuals exhibit increased co-contraction of lateral knee muscles (ES 0.64 [0.3 to 0.97]) and moderately increased rectus femoris (ES 0.73 [0.23 to 1.22]), vastus lateralis (ES 0.77 [0.27 to 1.27]) and biceps femoris (ES 1.18 [0.67 to 1.7]) mean amplitude. Non-pooled data indicated prolonged activity of these muscles. Increased medial knee neuromuscular activity was prevalent for those exhibiting varus alignment and medial knee joint laxity. Interpretation Individuals with KOA exhibited increased co-contraction, amplitude and duration of lateral knee muscles regardless of disease severity, limb alignment or medial joint laxity. Individuals with severe disease, varus alignment and medial joint laxity demonstrate up-regulation of medial knee muscles. Future research investigating the efficacy of neuromuscular rehabilitation programs should consider the effect of simultaneous up-regulation of medial and lateral knee muscles on disease progression. © 2013.

  13. Periodontal disease severity is associated with micronutrient intake.

    Science.gov (United States)

    Luo, P-P; Xu, H-S; Chen, Y-W; Wu, S-P

    2018-03-06

    This study aimed to examine if specific micronutrients were associated with periodontal disease using data from the US National Health and Nutrition Examination Survey (NHANES) from 2011 to 2014. Participants who were aged 30 years or more and received complete periodontal examinations were included. Regression analyses were performed to determine associations of variables of interest with periodontal disease. Data of 6415 NHANES participants were included in the analysis. Multivariable analysis revealed that less intake of vitamin A (adjusted odds ratio (aOR) = 1.784), vitamin B1 (aOR = 1.334), vitamin C (aOR = 1.401), vitamin E (aOR = 1.576), iron (aOR = 1.234), folate (aOR = 1.254) and phosphorus (aOR = 1.280) was associated with increased severity of periodontal disease. Compared with the highest level of vitamin D intake, the second highest level of vitamin D intake was associated with lower severity of periodontal disease (aOR = 0.727). Insufficient intake of vitamin A, B1, C and E, iron, folate and phosphorus was significantly associated with severity of periodontal disease. Results of the present study suggest that the above micronutrients may be increased in the diet or taken as dietary supplements in order to reduce severity of periodontal disease. © 2018 Australian Dental Association.

  14. Severity of self-reported diseases and symptoms in Denmark

    DEFF Research Database (Denmark)

    Iburg, Kim Moesgaard; Rasmussen, Niels Kristian; Avlund, Kirsten

    2006-01-01

    , more frequently than males, reported on all symptoms and all disease groups except injuries. People with relatively low levels of education reported most diseases, especially musculoskeletal and cardiovascular diseases, more frequently than people with higher education. Age-adjusted mean SF-36 scores...... for all dimensions combined showed that the symptoms of melancholy/depression and breathing difficulties, psychiatric disorders and respiratory diseases scored lowest (i.e. were most often associated with worse health). Females had lower SF-36 combined scores (worse health) than males on all symptoms. We......OBJECTIVE: To estimate and rank the relative severity of self-reported diseases and symptoms in Denmark. METHOD: The 1994 Danish Health and Morbidity Survey collected data from 5,472 Danes older than 16 years of age. Interviews (response frequency: 79%) gave information on diseases and symptoms...

  15. The Role of Neuromuscular Changes in Aging and Knee Osteoarthritis on Dynamic Postural Control

    Science.gov (United States)

    Takacs, Judit; Carpenter, Mark G.; Garland, S. Jayne; Hunt, Michael A.

    2013-01-01

    Knee osteoarthritis (OA) is a chronic joint condition, with 30% of those over the age of 75 exhibiting severe radiographic disease. Nearly 50% of those with knee OA have experienced a fall in the past year. Falls are a considerable public health concern, with a high risk of serious injury and a significant socioeconomic impact. The ability to defend against a fall relies on adequate dynamic postural control, and alterations in dynamic postural control are seen with normal aging. Neuromuscular changes associated with aging may be responsible for some of these alterations in dynamic postural control. Even greater neuromuscular deficits, which may impact dynamic postural control and the ability to defend against a fall, are seen in people with knee OA. There is little evidence to date on how knee OA affects the ability to respond to and defend against falls and the neuromuscular changes that contribute to balance deficits. As a result, this review will: summarize the key characteristics of postural responses to an external perturbation, highlight the changes in dynamic postural control seen with normal aging, review the neuromuscular changes associated with aging that have known and possible effects on dynamic postural control, and summarize the neuromuscular changes and balance problems in knee OA. Future research to better understand the role of neuromuscular changes in knee OA and their effect on dynamic postural control will be suggested. Such an understanding is critical to the successful creation and implementation of fall prevention and treatment programs, in order to reduce the excessive risk of falling in knee OA. PMID:23696951

  16. Hotspots in clinical management of severe liver diseases

    Directory of Open Access Journals (Sweden)

    LYU Jiayu

    2017-09-01

    Full Text Available Severe liver diseases such as liver failure and acute decompensated cirrhosis have critical conditions and high mortality rates, and the prognosis of such patients is closely associated with early warning, timely dynamic assessment, and comprehensive and effective therapy. The patients require a series of effective clinical management measures for elimination of causative factors, organ support, and prevention and treatment of complications. Medical treatment-artificial liver-liver transplantation is an important modality for severe liver diseases. Granulocyte colony-stimulating factor, stem cell therapy, and bioartificial liver have a promising future, while there are still controversies over non-selective β-blocker. This article reviews the hotspots in the clinical management of severe liver diseases.

  17. Parkinson's disease severity and motor subtype influence physical capacity components

    Directory of Open Access Journals (Sweden)

    Marcelo Pinto Pereira

    2013-09-01

    Full Text Available The severity of Parkinson's disease (PD and PD's motor subtypes influence the components of physical capacity. The aim of this study was to investigate the impact of both PD severity and motor subtype in the performance of these components. Thirty-six PD patients were assigned into four groups: Tremor (TD initial and TD mild, akinetic-rigid (AR initial, and AR mild. Patients' strength, balance, coordination, mobility and aerobic capacity were evaluated and groups were compared using a two-way ANOVA (severity and subtype as factors. AR presents a poorer performance than TD in almost all tests. Also this performance was worsened with the advance of the disease in AR, contrary to TD. We conclude that AR and TD subgroups are different about their performance on physical capacity components, moreover, this performance worsens with the advance of the disease of the AR group, but not for TD.

  18. Severe late anemia of hemolytic disease of the newborn

    Science.gov (United States)

    Mitchell, Simon; James, Andrew

    1999-01-01

    Late anemia is a well-recognized complication of Rhesus hemolytic disease of the newborn (HDN). The incidence of Rhesus HDN is declining, with a tendency for more severely affected pregnancies to be managed in specialist centres. Consequently, many paediatric departments may see relatively few affected infants with comparatively mild disease, and the risk of late anemia in such cases may not always be appreciated. Two cases of infants born with evidence of Rhesus isoimmunization noted at birth and encountering no immediate problems other than mild hyperbilirubinemia are described. After an uneventful early neonatal course, both infants were discharged without follow-up and presented in the second to third weeks of life with severe, life-threatening anemia, leading to neurological sequelae in one case. The importance of close surveillance, including hemoglobin measurements, in all infants with Rhesus hemolytic disease, irrespective of initial severity, is reiterated. PMID:20212966

  19. Validation of the individualised neuromuscular quality of life for the USA with comparison of the impact of muscle disease on those living in USA versus UK

    Directory of Open Access Journals (Sweden)

    Sadjadi Reza

    2011-12-01

    Full Text Available Abstract Background The Individualised Neuromuscular Quality of Life (INQoL questionnaire is a published muscle disease specific measure of QoL that has been validated using both qualitative and quantitative methods in a United Kingdom population of adults with muscle disease. If INQoL is to be used in other countries it needs to be linguistically and culturally validated for those countries. It may be important to understand any cultural differences in how patients rate their QoL when applying QoL measures in multi-national clinical trials. Methods We conducted a postal survey of QoL issues in US adults with muscle disease using an agreed translation, from UK to US English, of the same questionnaire as was used in the original construction of INQoL. This questionnaire included an opportunity for free text comments on any aspects of QoL that might not have been covered by the questionnaire. We examined the responses using both quantitative and qualitative approaches. The frequency of the responses in US versus UK populations was compared using appropriate correlation tests and Rasch analysis. A phenomenological approach was used to guide the qualitative analysis and facilitate the exploration of patients' perceptions and experiences. Results The US survey received 333 responses which were compared with 251 UK survey responses. We found that INQoL domains covered all the issues raised by US subjects with no additional domains required. The experiences of those with muscle disease were remarkably similar in the US and UK but there were differences related to the impact of muscle disease on relationships and on employment which was greater for those living in the United States. The greater impact on employment was associated with a higher importance rating given to employment in the US. This may reflect the lower level of financial support for those who are unemployed, and the loss of employment related health benefits. Conclusions INQoL is

  20. CT evaluation of severe renal inflammatory disease in children

    International Nuclear Information System (INIS)

    Montgomery, P.; Kuhn, J.P.; Afshani, E.

    1987-01-01

    We have performed CT scans on 15 children and 2 young adults with severe renal inflammatory disease. Most children with urinary tract infections do not require such evaluation. We have, however, found CT helpful in defining the nature of renal abnormality and in defining the extent of disease in selected patients who either presented as diagnostic dilemmas or who did not respond initially to proper medical treatment. We therefore use CT scanning as our initial examination in such problem patients. (orig.)

  1. Autoimmune diseases and severe infections as risk factors for schizophrenia

    DEFF Research Database (Denmark)

    Benros, Michael E; Nielsen, Philip R; Nordentoft, Merete

    2011-01-01

    Autoimmune diseases have been associated with an increased risk of schizophrenia. It has been suggested that brain-reactive autoantibodies are part of the mechanisms behind this association. Furthermore, an increased permeability of the blood-brain barrier has been observed during periods...... of infection and inflammation. The authors therefore investigated whether autoimmune diseases combined with exposures to severe infections may increase the risk of schizophrenia...

  2. Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2010-10-01

    Full Text Available Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy, respiratory equipment (assisted ventilation, cough assist devices, and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds. The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI: 10.2458/azu_jmmss.v1i1.76

  3. Severe hemolytic disease of the newborn from anti-e.

    Science.gov (United States)

    McAdams, R M; Dotzler, S A; Winter, L W; Kerecman, J D

    2008-03-01

    Maternal antibody-mediated fetal red blood cell destruction secondary to non-D Rhesus (Rh) antibodies is a significant cause of hemolytic disease of the newborn (HDN). Here, we report a rare case of severe HDN associated with maternal antibody to Rh e. In addition to severe anemia, the infant developed thrombocytopenia, conjugated hyperbilirubinemia and cholelithiasis. Resolution of the infant's cholelithiasis occurred following treatment with ursodeoxycholic acid.

  4. Gray matter perfusion correlates with disease severity in ALS.

    Science.gov (United States)

    Rule, Randall R; Schuff, Norbert; Miller, Robert G; Weiner, Michael W

    2010-03-09

    The goal of this study is to determine if regional brain perfusion, as measured by arterial spin labeling (ASL) MRI, is correlated with clinical measures of amyotrophic lateral sclerosis (ALS) disease severity. The presence of such a relationship would indicate a possible role for ASL perfusion as a marker of disease severity and upper motor neuron involvement in ALS. Disease severity was assessed in 16 subjects with ALS (age 54 +/- 11) using the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) and the pulmonary function measure, forced vital capacity (FVC). Upper motor neuron involvement was assessed by testing rapid tapping of the fingers and feet. Magnetic resonance perfusion images were coregistered with structural T1-weighted MRI, corrected for partial volume effects using the structural images and normalized to a study-specific atlas. Correlations between perfusion and ALS disease severity were analyzed, using statistical parametric mapping, and including age as a factor. Analyses were adjusted for multiple clusters. ALS severity, as measured by the ALSFRS and FVC, was correlated with gray matter perfusion. This correlation was predominantly observed in the hemisphere contralateral to the more affected limbs. ALSFRS scores correlated with perfusion in the contralateral frontal and parietal lobe (p frontal lobe (p frontal lobe (p Upper motor neuron involvement, as measured by rapid finger tapping, correlated bilaterally with perfusion in the middle cingulate gyrus (p < 0.001). Amyotrophic lateral sclerosis (ALS) severity is correlated with brain perfusion as measured by arterial spin labeling (ASL) perfusion. This correlation appears to be independent of brain atrophy. ASL perfusion may be a useful tool for monitoring disease progression and assessing treatment effects in ALS.

  5. Application of neuromuscular electrical stimulation of the lower limb skeletal muscles in the rehabilitation of patients with chronic heart failure and chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Ewa Barbara Kucio

    2017-03-01

    Full Text Available Increasing physical activity is a widely-known method of rehabilitation of patients with chronic heart failure (CHF and chronic obstructive pulmonary disease (COPD. However, what kind of procedure is to be applied if a patient suffers from advanced heart or respiratory failure, cannot undertake physical exercise due to locomotor system disorders or is currently undergoing respiratorotherapy? Recent research shows that neuromuscular electrical stimulation of the lower limb skeletal muscles (NMES may comprise an alternative to physical training in patients with CHF and COPD. The aim of this study is to summarize the current state of knowledge on the use of NMES in cardiac rehabilitation of patients with CHF and pulmonary rehabilitation of patients with COPD. As demonstrated in recent research on the topic, NMES – due to forcing the muscles to activate – increases exercise tolerance, muscle mass and endurance in patients with CHF and COPD. The beneficial effect of NMES on blood circulation in the muscles, aerobic enzymes activity, functioning of the vascular endothelium, reduction of pro-inflammatory cytokines concentration and increased quality of life has also been presented. It is to be accentuated that NMES treatment, due to lesser physical exertion and, in turn, a decreased feeling of dyspnea are more comfortable for the patient than traditional physical training. Moreover, NMES treatment, after foregoing training, can be applied at home. Potential side effects include transient muscle pain and minor skin damage due to improper positioning of the electrodes. To summarize, NMES treatment is well received by CHF and COPD patients and brings about increased exercise tolerance, as well as better quality of life. Devices used for NMES therapy, due to progressive miniaturization, are easily accessible and relatively inexpensive.

  6. Severe agitation in severe early-onset Alzheimer’s disease resolves with ECT

    Directory of Open Access Journals (Sweden)

    Aksay SS

    2014-11-01

    Full Text Available Suna Su Aksay, Lucrezia Hausner, Lutz Frölich, Alexander Sartorius Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany Abstract: Dementia-related behavioral disturbances are mostly treated with antipsychotics; however, the observed beneficial effects are modest and the risk of serious adverse effects high. We report the case of a 57-year-old woman with severe early-onset Alzheimer’s disease and severe agitation, whom we treated with electroconvulsive therapy (ECT. A significant clinical improvement was achieved over eight ECT sessions, which were tolerated well without cognitive worsening, and lasted approximately 3 months. Our case demonstrates the safe and effective use of ECT in pharmacotherapy-resistant severe agitation in Alzheimer’s disease. The risk–benefit profile of ECT for dementia-related agitation should be further investigated in clinical trials. Keywords: dementia, electroconvulsive therapy, cognition, emotional distress, disinhibition.

  7. Linguistic Correlates of Asymmetric Motor Symptom Severity in Parkinson's Disease

    Science.gov (United States)

    Holtgraves, Thomas; McNamara, Patrick; Cappaert, Kevin; Durso, Raymond

    2010-01-01

    Asymmetric motor severity is common in Parkinson's Disease (PD) and provides a method for examining the neurobiologic mechanisms underlying cognitive and linguistic deficits associated with the disorder. In the present research, PD participants (N = 31) were assessed in terms of the asymmetry of their motor symptoms. Interviews with the…

  8. Blood pressure indices and disease severity in patients with sickle ...

    African Journals Online (AJOL)

    Background: Individuals with sickle cell anaemia (SCA) have lower systemic blood pressures compared to individuals with haemoglobin Hb AA phenotype. Objective: To evaluate blood pressure indices of individuals with SCA in steady state, in comparison with haematological and clinical markers of disease severity.

  9. Mandibulectomy for treatment of fractures associated with severe periodontal disease.

    Science.gov (United States)

    Carvalho, Carina Marchiori; Rahal, Sheila Canevese; Dos Reis Mesquita, Luciane; Castilho, Maíra Sales; Kano, Washington Takashi; Mamprim, Maria Jaqueline

    2015-03-01

    Six cases of mandibular fractures associated with severe periodontal disease that had been treated by mandibulectomy, due to intense bone loss, were evaluated retrospectively. The dogs were mainly older, small breed dogs that had suffered a traumatic event. Four dogs had a bilateral mandibulectomy and 2 a unilateral mandibulectomy.

  10. Mandibulectomy for treatment of fractures associated with severe periodontal disease

    OpenAIRE

    Carvalho, Carina Marchiori; Rahal, Sheila Canevese; dos Reis Mesquita, Luciane; Castilho, Maíra Sales; Kano, Washington Takashi; Mamprim, Maria Jaqueline

    2015-01-01

    Six cases of mandibular fractures associated with severe periodontal disease that had been treated by mandibulectomy, due to intense bone loss, were evaluated retrospectively. The dogs were mainly older, small breed dogs that had suffered a traumatic event. Four dogs had a bilateral mandibulectomy and 2 a unilateral mandibulectomy.

  11. A case of severe autoimmune hepatitis associated with Graves' disease

    Directory of Open Access Journals (Sweden)

    Samia Abdulla Bokhari

    2016-01-01

    Full Text Available Graves' disease is a common condition and is known to have a wide range of effects on a variety of organs. Hepatic dysfunction ranging from mild to severe due to direct effect of high circulating thyroid hormones as well as a deleterious effect of antithyroid medications (methimazole and propylthiouracil has been well - documented in literature. However, severe autoimmune hepatitis (AIH associated with Graves' disease is rare and limited to few case reports only. A 38-year-old woman presented with abdominal pain and yellowish discolouration of conjunctivae. On investigation, she was found to have Graves' disease and AIH. The liver histopathology showed typical features of AIH. She responded excellently to glucocorticoid therapy with normalisation of thyroid function and liver histology. The case is discussed with relevant literature review.

  12. Severe form of Legionnaires' disease in an immunocompetent patient

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    Andrijević Ilija

    2009-01-01

    Full Text Available Background. Legionnaires' disease (LD is a pneumonia caused by Legionella pneumophila (LP. The disease occurs more often in immunocompromised persons and can be manifested by severe pneumonia, multiple organ failure and has a high mortality. Case report. Immunocompetent patient, male, 53- year old, with severe form of LB had fever, cough, weakness and diarrhea as the initial symptoms of the disease. Laboratory results showed increased number of leukocytes, increased values of acute phase proteins, liver enzymes and hyponatremia. Computed tomography of the chest showed the marked inflammatory lesions on both sides. Pathohystological analysis of the samples retrieved by bronchoscopy pointed to a pneumonia, and diagnosis of LD was confirmed by positive urine test for LP antigen. Later, the disease was complicated by acute adult respiratory distress syndrome (ARDS. Treatment with antibiotics (erythromycin, rifampicin, azithromycin combined with ARDS treatment led to a clinical recovery of the patient together with complete resolution of inflammatory lesions seen on chest radiography. Conclusion. In severe pneumonias it is necessary to consider LD in differential diagnosis, perform tests with aim of detecting LP and apply adequate antibiotic treatment in order to accomplish positive outcome of the therapy and prevent complications.

  13. Heartburn Severity Does Not Predict Disease Severity in Patients With Erosive Esophagitis

    Science.gov (United States)

    Fennerty, M. Brian; Johnson, David A.

    2006-01-01

    Background For patients with gastroesophageal reflux disease (GERD), it is often assumed by treating physicians that the severity of heartburn correlates with the severity of erosive esophagitis (EE). Objective This is a post hoc analysis of data from 5 clinical trials that investigate the relationship between the baseline severity of heartburn and the baseline severity of EE. Methods Patients with endoscopically confirmed EE were assessed for heartburn symptoms with a 4-point scale at baseline and during treatment for 8 weeks with various proton pump inhibitors in 5 double-blind trials in which esomeprazole was the common comparator. EE was graded with the Los Angeles (LA) classification system. In these trials, healing and symptom response were evaluated by endoscopy and questionnaire after 4 weeks of treatment. Patients who were not healed were treated for an additional 4 weeks and reevaluated. Results A total of 11,945 patients with endoscopically confirmed EE participated in the 5 trials, with patients receiving esomeprazole 40 mg (n = 5068), esomeprazole 20 mg (n = 1243), omeprazole 20 mg (n = 3018), or lansoprazole 30 mg (n = 2616). Approximately one quarter of the 11,945 GERD patients in these 5 trials had severe EE (defined as LA grades C or D), regardless of their baseline heartburn severity. Conclusion The severity of GERD symptoms does not correlate well with disease severity. These findings indicate that endoscopy may have value in GERD patients in identifying those with EE, and if empirical therapy is chosen, then longer courses (4-8 weeks) of antisecretory therapy may be necessary to ensure healing of unrecognized esophagitis. PMID:16926745

  14. Detection of Severe Respiratory Disease Epidemic Outbreaks by CUSUM-Based Overcrowd-Severe-Respiratory-Disease-Index Model

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    Carlos Polanco

    2013-01-01

    Full Text Available A severe respiratory disease epidemic outbreak correlates with a high demand of specific supplies and specialized personnel to hold it back in a wide region or set of regions; these supplies would be beds, storage areas, hemodynamic monitors, and mechanical ventilators, as well as physicians, respiratory technicians, and specialized nurses. We describe an online cumulative sum based model named Overcrowd-Severe-Respiratory-Disease-Index based on the Modified Overcrowd Index that simultaneously monitors and informs the demand of those supplies and personnel in a healthcare network generating early warnings of severe respiratory disease epidemic outbreaks through the interpretation of such variables. A post hoc historical archive is generated, helping physicians in charge to improve the transit and future allocation of supplies in the entire hospital network during the outbreak. The model was thoroughly verified in a virtual scenario, generating multiple epidemic outbreaks in a 6-year span for a 13-hospital network. When it was superimposed over the H1N1 influenza outbreak census (2008–2010 taken by the National Institute of Medical Sciences and Nutrition Salvador Zubiran in Mexico City, it showed that it is an effective algorithm to notify early warnings of severe respiratory disease epidemic outbreaks with a minimal rate of false alerts.

  15. Detection of Severe Respiratory Disease Epidemic Outbreaks by CUSUM-Based Overcrowd-Severe-Respiratory-Disease-Index Model

    Science.gov (United States)

    Castañón-González, Jorge Alberto; Macías, Alejandro E.; Samaniego, José Lino; Buhse, Thomas; Villanueva-Martínez, Sebastián

    2013-01-01

    A severe respiratory disease epidemic outbreak correlates with a high demand of specific supplies and specialized personnel to hold it back in a wide region or set of regions; these supplies would be beds, storage areas, hemodynamic monitors, and mechanical ventilators, as well as physicians, respiratory technicians, and specialized nurses. We describe an online cumulative sum based model named Overcrowd-Severe-Respiratory-Disease-Index based on the Modified Overcrowd Index that simultaneously monitors and informs the demand of those supplies and personnel in a healthcare network generating early warnings of severe respiratory disease epidemic outbreaks through the interpretation of such variables. A post hoc historical archive is generated, helping physicians in charge to improve the transit and future allocation of supplies in the entire hospital network during the outbreak. The model was thoroughly verified in a virtual scenario, generating multiple epidemic outbreaks in a 6-year span for a 13-hospital network. When it was superimposed over the H1N1 influenza outbreak census (2008–2010) taken by the National Institute of Medical Sciences and Nutrition Salvador Zubiran in Mexico City, it showed that it is an effective algorithm to notify early warnings of severe respiratory disease epidemic outbreaks with a minimal rate of false alerts. PMID:24069063

  16. GRAVES’ DISEASE INDUCED REVERSIBLE SEVERE RIGHT HEART FAILURE

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    Kathyayani

    2015-07-01

    Full Text Available A middle aged man presented with evidence of right - sided heart failure in atrial fibrillation (AF and was found to have severe Tricuspid Regurgitation (TR with pulmonary artery hypertension (PAH, with normal left ventricular function. The common possible seconda ry causes of PAH were ruled out, but during investigation he was found to have elevated thyroid function tests compatible with the diagnosis of Graves’ disease. The treatment of Graves’ disease was started with anti - thyroid drugs and associated with a sign ificant reduction in the pulmonary arterial pressure. This case report is presented to highlight one of the rare and underdiagnosed presentations of Graves’ disease. Thyrotoxicosis can present with profound cardiovascular complications. In recent times, th ere have been few reports of secondary PAH with TR in patients with hyperthyroidism. Previously asymptomatic Graves’ disease having the signs and symptoms of right heart failure is a rare presentation and the association could be easily missed. This case p resentation emphasizes that the diagnosis of thyroid heart disease with heart failure secondary to Graves’ disease should be considered in any patient regardless of age, gender with clinical features of heart failure of unknown etiology and timely initiation of anti - thyroid drugs is necessary to treat these reversible cardiac failures.

  17. Diagnosis and treatment of invasive fungal diseases in patients with severe liver diseases

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    ZANG Hong

    2016-09-01

    Full Text Available Invasive fungal diseases (IFDs are an important factor affecting the prognosis of patients with severe liver diseases, and their early diagnosis remains a challenge for clinicians. The four most commonly seen IFDs are candidiasis, aspergillosis, cryptococcosis, and pneumocystis pneumonia. We should pay attention to the risk of developing IFDs in patients with severe liver diseases during clinical management. Particularly, early diagnosis and proper treatment of IFDs are important in high-risk patients. These are vital to improving the prognosis of patients with severe liver diseases.

  18. Swallowing in moderate and severe phases of Alzheimer's disease

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    Sheilla de Medeiros Correia

    2010-12-01

    Full Text Available OBJECTIVE: To characterize the problems of feeding and swallowing in individuals with moderate and severe Alzheimer´s disease (AD and to correlate these with functional aspects. METHOD: Fifty patients with AD and their caregivers participated in this study. The instruments used were: Clinical Dementia Rating (CDR, Mini-Mental State Examination, Index of Activities of Daily Living, Assessment of Feeding and Swallowing Difficulties in Dementia, Functional Outcome Questionnaire for Aphasia, and Swallowing Rating Scale. RESULTS: Problems with passivity, distraction and refusal to eat were encountered in the CDR2 group. Distraction, passivity and inappropriate feeding velocity were predominant in the CDR3 group. The problems were correlated with communication, swallowing severity of AD individuals and caregiver schooling. CONCLUSION: Given the inexorable functional alterations during the course of the disease, it is vital to observe these in patients with a compromised feeding and swallowing mechanism. The present study supplies the instruments to orient caregivers and professionals.

  19. Severe nitrofurantoin lung disease resolving without the use of steroids

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    Bhullar S

    2007-01-01

    Full Text Available We report a case of an elderly woman who developed a severe, chronic pulmonary reaction to nitrofurantoin therapy that she had taken continuously for three years to prevent urinary tract infections. The patient was taking no other drug known to cause lung disease but the diagnosis was delayed by failure to recognize the association between nitrofurantoin and adverse drug reactions affecting the lung. When originally seen, the patient was unable to care for herself due to dyspnea. Bronchoscopy with biopsy ruled out other causes of her pulmonary disease. Immediate withdrawal of nitrofurantoin led to substantial, sustained improvement and disappearance of symptoms over several months without administration of corticosteroids. Nitrofurantoin toxicity should always be considered in any person taking that drug who develops bilateral infiltrates.

  20. Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort

    NARCIS (Netherlands)

    Weersma, R.K.; Stokkers, P.C.F.; van Bodegraven, A.A.; van Hogezand, R.A.; Verspaget, H.W.; de Jong, D.J.; van der Woude, C.J.; Oldenburg, B.; Linskens, R.K.; Festen, E.A.M.; van der Steege, G.; Hommes, D.W.; Crusius, J.B.A.; Wijmenga, C.; Nolte, I.M.; Dijkstra, G.

    2009-01-01

    Background: Crohn's disease and ulcerative colitis have a complex genetic background. We assessed the risk for both the development and severity of the disease by combining information from genetic variants associated with inflammatory bowel disease (IBD). Methods: We studied 2804 patients (1684

  1. Decreased ADAMTS 13 Activity is Associated With Disease Severity and Outcome in Pediatric Severe Sepsis

    Science.gov (United States)

    Lin, Jainn-Jim; Chan, Oi-Wa; Hsiao, Hsiang-Ju; Wang, Yu; Hsia, Shao-Hsuan; Chiu, Cheng-Hsun

    2016-01-01

    Abstract Decreased ADAMTS 13 activity has been reported in severe sepsis and in sepsis-induced disseminated intravascular coagulation. This study aimed to investigate the role of ADAMTS 13 in different pediatric sepsis syndromes and evaluate its relationship with disease severity and outcome. We prospectively collected cases of sepsis treated in a pediatric intensive care unit, between July 2012 and June 2014 in Chang Gung Children's Hospital in Taoyuan, Taiwan. Clinical characteristics and ADAMTS-13 activity were analyzed. All sepsis syndromes had decreased ADAMTS 13 activity on days 1 and 3 of admission compared to healthy controls. Patients with septic shock had significantly decreased ADAMTS 13 activity on days 1 and 3 compared to those with sepsis and severe sepsis. There was a significant negative correlation between ADAMTS 13 activity on day 1 and day 1 PRISM-II, PELOD, P-MOD, and DIC scores. Patients with mortality had significantly decreased ADAMTS 13 activity on day 1 than survivors, but not on day 3. Different pediatric sepsis syndromes have varying degrees of decreased ADAMTS 13 activity. ADAMTS 13 activity is strongly negatively correlated with disease severity of pediatric sepsis syndrome, whereas decreased ADAMTS 13 activity on day 1 is associated with increased risk of mortality. PMID:27100422

  2. Airway inflammation in severe chronic obstructive pulmonary disease

    International Nuclear Information System (INIS)

    Turato, Graziella; Zuin, Renzo; Miniati, Massimo

    2002-01-01

    Very few studies have been made in-patient with severe chronic obstructive pulmonary disease and some of them carried out, have demonstrated an increment in the intensity of the inflammatory answer in the space and these patients' alveolar walls. However, there are not enough studies on the inflammatory answer in the small airway and in the lung glasses, object of the present study, comparing it with patient with light (COPD) or without COPD, in spite of similar history of smoker

  3. The Airway Microbiome in Severe Asthma: Associations with Disease Features and Severity

    Science.gov (United States)

    Huang, Yvonne J.; Nariya, Snehal; Harris, Jeffrey M.; Lynch, Susan V.; Choy, David F.; Arron, Joseph R.; Boushey, Homer

    2015-01-01

    Background Asthma is heterogeneous, and airway dysbiosis is associated with clinical features in mild-moderate asthma. Whether similar relationships exist among patients with severe asthma is unknown. Objective To evaluate relationships between the bronchial microbiome and features of severe asthma. Methods Bronchial brushings from 40 participants in the BOBCAT study (Bronchoscopic Exploratory Research Study of Biomarkers in Corticosteroid-refractory Asthma) were evaluated using 16S rRNA-based methods. Relationships to clinical and inflammatory features were analyzed among microbiome-profiled subjects. Secondarily, bacterial compositional profiles were compared between severe asthmatics, and previously studied healthy controls (n=7), and mild-moderate asthma subjects (n=41). Results In severe asthma, bronchial bacterial composition was associated with several disease-related features, including body-mass index (BMI; Bray-Curtis distance PERMANOVA, p < 0.05), changes in Asthma Control Questionnaire (ACQ) scores (p < 0.01), sputum total leukocytes (p = 0.06) and bronchial biopsy eosinophils (per mm2; p = 0.07). Bacterial communities associated with worsening ACQ and sputum total leukocytes (predominantly Proteobacteria) differed markedly from those associated with BMI (Bacteroidetes/Firmicutes). In contrast, improving/stable ACQ and bronchial epithelial gene expression of FKBP5, an indicator of steroid responsiveness, correlated with Actinobacteria. Mostly negative correlations were observed between biopsy eosinophils and Proteobacteria. No taxa were associated with a T-helper type 2-related epithelial gene expression signature, but expression of Th17-related genes was associated with Proteobacteria. Severe asthma subjects, compared to healthy controls or mild-moderate asthmatics, were significantly enriched in Actinobacteria, although the largest differences observed involved a Klebsiella genus member (7.8 fold-increase in severe asthma, padj < 0.001) Conclusions

  4. Electrophysiology and optical coherence tomography to evaluate Parkinson disease severity.

    Science.gov (United States)

    Garcia-Martin, Elena; Rodriguez-Mena, Diego; Satue, Maria; Almarcegui, Carmen; Dolz, Isabel; Alarcia, Raquel; Seral, Maria; Polo, Vicente; Larrosa, Jose M; Pablo, Luis E

    2014-02-04

    To evaluate correlations between visual evoked potentials (VEP), pattern electroretinogram (PERG), and macular and retinal nerve fiber layer (RNFL) thickness measured by optical coherence tomography (OCT) and the severity of Parkinson disease (PD). Forty-six PD patients and 33 age and sex-matched healthy controls were enrolled, and underwent VEP, PERG, and OCT measurements of macular and RNFL thicknesses, and evaluation of PD severity using the Hoehn and Yahr scale to measure PD symptom progression, the Schwab and England Activities of Daily Living Scale (SE-ADL) to evaluate patient quality of life (QOL), and disease duration. Logistical regression was performed to analyze which measures, if any, could predict PD symptom progression or effect on QOL. Visual functional parameters (best corrected visual acuity, mean deviation of visual field, PERG positive (P) component at 50 ms -P50- and negative (N) component at 95 ms -N95- component amplitude, and PERG P50 component latency) and structural parameters (OCT measurements of RNFL and retinal thickness) were decreased in PD patients compared with healthy controls. OCT measurements were significantly negatively correlated with the Hoehn and Yahr scale, and significantly positively correlated with the SE-ADL scale. Based on logistical regression analysis, fovea thickness provided by OCT equipment predicted PD severity, and QOL and amplitude of the PERG N95 component predicted a lower SE-ADL score. Patients with greater damage in the RNFL tend to have lower QOL and more severe PD symptoms. Foveal thicknesses and the PERG N95 component provide good biomarkers for predicting QOL and disease severity.

  5. Evaluation of skeletal muscular involvement in neuromuscular disorders with thallium-201 whole body scintigraphy

    International Nuclear Information System (INIS)

    Yamamoto, Shuhei; Sotobata, Iwao; Indo, Toshikatsu; Matsuoka, Yukihiko; Matsushima, Hideo; Suzuki, Akio; Abe, Tetsutaro; Sakuma, Sadayuki

    1986-01-01

    The extent as well as severity of pathologic changes of skeletal muscles were analyzed with thallium-201 whole body scintigraphy (WBS) in 29 cases of various types of neuromuscular diseases (18 cases of myogenic and 11 cases of neurogenic muscular diseases) and 14 cases of normal controls. After intravenous injection of 2 mCi of thallium-201 chloride, WBS was performed for 15 minutes using a gamma camera with twin-opposed large rectangular detectors. Counts at brachia, forearms, thighs, and calves were assessed after reconstruction of the scintigram of the whole body by taking the geometric mean of the anterior and posterior data. WBS showed uniform tracer activities in the 4 extremities in 12 cases among 14 controls. Laterality in distribution of counts of both legs and arms was noted in the remaining 2 controls. WBS revealed decrease of perfusion in the extremities with muscular atrophy and/or weakness in neuromuscular diseases. The overall diagnostic accuracy of WBS for evaluation of skeletal muscle involvement was 75 to 80 % except for the bilateral brachia for which it decreased to 65 %. All of the three cases of muscular dystrophy with pseudohypertrophy of the calves or thighs showed unequivocal decrease of perfusion of those regions in WBS. In conclusion, thallium-201 WBS was considered to be a useful clinical means in evaluating the extent and severity of muscular involvement of various types of neuromuscular disorders. (author)

  6. How we developed, at the Centre/Institute for Neuromuscular Diseases, differential diagnostics of Spinal Muscle Atrophies / Amyotrophic Lateral Sclerosis (SMA/ALS) and tried to influence the development of the disease.

    Science.gov (United States)

    Jušić, Anica

    2014-10-01

    In our research, we placed the emphasis on delimiting fatal diseases against those that have some similar symptoms, but can be improved, even completely cured. More often we succeeded in differentiating the local compressive factor. In our search for early symptoms, we also found physiological, although quite unusual EMG phenomena. High amplitude neural potentials confirmed the malignant disease diagnosis. The spinal angiography discovered arterial pathology, while CT demonstrated localised hydromyelia. Amyotrophic syndromes caused by chronic led intoxications represented a separate group. Patients would recover significantly on d-penicillamine. We applied it successfully in amyotrophic syndromes with laboratory confirmed copper metabolism disorders. A very significant therapeutic effect was obtained in a patient with SMA without similar laboratory, even in recidivism. Exceptionally, we were able to achieve significant remission with corticosteroids, too. The remaining patients, differentiated as certainly fatal, represented a separate group. We tried to elaborate the special psychosocial and ethical problems connected with its outcome in "round table discussions". The first one was in 1989, at the workshop with King Engel, and the second in 1990, on the Fourth Yugoslav Symposium on Neuromuscular Diseases. In 1990, I visited Cicely Saunders and the St. Christopher's hospice in London, and in 1994 I started to organised hospice movement in Croatia.

  7. Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

    Science.gov (United States)

    Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz

    2018-01-01

    Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors

  8. Prevalence of celiac disease in patients with severe food allergy.

    Science.gov (United States)

    Pillon, R; Ziberna, F; Badina, L; Ventura, A; Longo, G; Quaglia, S; De Leo, L; Vatta, S; Martelossi, S; Patano, G; Not, T; Berti, I

    2015-10-01

    The association between food allergy and celiac disease (CD) is still to be clarified. We screened for CD 319 patients with severe food allergy (IgE > 85 kU/l against food proteins and a history of severe allergic reactions) who underwent specific food oral immunotherapy (OIT), together with 128 children with mild allergy who recovered without OIT, and compared the prevalence data with our historical data regarding healthy schoolchildren. Sixteen patients (5%) with severe allergy and one (0.8%) with mild allergy tested positive for both genetic and serological CD markers, while the prevalence among the schoolchildren was 1%. Intestinal biopsies were obtained in 13/16 patients with severe allergy and in the one with mild allergy, confirming the diagnosis of CD. Sufferers from severe food allergy seem to be at a fivefold increased risk of CD. Our findings suggest that routine screening for CD should be recommended in patients with severe food allergy. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Gene Expression Correlated with Severe Asthma Characteristics Reveals Heterogeneous Mechanisms of Severe Disease.

    Science.gov (United States)

    Modena, Brian D; Bleecker, Eugene R; Busse, William W; Erzurum, Serpil C; Gaston, Benjamin M; Jarjour, Nizar N; Meyers, Deborah A; Milosevic, Jadranka; Tedrow, John R; Wu, Wei; Kaminski, Naftali; Wenzel, Sally E

    2017-06-01

    Severe asthma (SA) is a heterogeneous disease with multiple molecular mechanisms. Gene expression studies of bronchial epithelial cells in individuals with asthma have provided biological insight and underscored possible mechanistic differences between individuals. Identify networks of genes reflective of underlying biological processes that define SA. Airway epithelial cell gene expression from 155 subjects with asthma and healthy control subjects in the Severe Asthma Research Program was analyzed by weighted gene coexpression network analysis to identify gene networks and profiles associated with SA and its specific characteristics (i.e., pulmonary function tests, quality of life scores, urgent healthcare use, and steroid use), which potentially identified underlying biological processes. A linear model analysis confirmed these findings while adjusting for potential confounders. Weighted gene coexpression network analysis constructed 64 gene network modules, including modules corresponding to T1 and T2 inflammation, neuronal function, cilia, epithelial growth, and repair mechanisms. Although no network selectively identified SA, genes in modules linked to epithelial growth and repair and neuronal function were markedly decreased in SA. Several hub genes of the epithelial growth and repair module were found located at the 17q12-21 locus, near a well-known asthma susceptibility locus. T2 genes increased with severity in those treated with corticosteroids but were also elevated in untreated, mild-to-moderate disease compared with healthy control subjects. T1 inflammation, especially when associated with increased T2 gene expression, was elevated in a subgroup of younger patients with SA. In this hypothesis-generating analysis, gene expression networks in relation to asthma severity provided potentially new insight into biological mechanisms associated with the development of SA and its phenotypes.

  10. Parenting Stress Related to Behavioral Problems and Disease Severity in Children with Problematic Severe Asthma.

    Science.gov (United States)

    Verkleij, Marieke; van de Griendt, Erik-Jonas; Colland, Vivian; van Loey, Nancy; Beelen, Anita; Geenen, Rinie

    2015-09-01

    Our study examined parenting stress and its association with behavioral problems and disease severity in children with problematic severe asthma. Research participants were 93 children (mean age 13.4 ± 2.7 years) and their parents (86 mothers, 59 fathers). As compared to reference groups analyzed in previous research, scores on the Parenting Stress Index in mothers and fathers of the children with problematic severe asthma were low. Higher parenting stress was associated with higher levels of internalizing and externalizing behavioral problems in children (Child Behavior Checklist). Higher parenting stress in mothers was also associated with higher airway inflammation (FeNO). Thus, although parenting stress was suggested to be low in this group, higher parenting stress, especially in the mother, is associated with more airway inflammation and greater child behavioral problems. This indicates the importance of focusing care in this group on all possible sources of problems, i.e., disease exacerbations and behavioral problems in the child as well as parenting stress.

  11. TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease.

    Science.gov (United States)

    Levine, Arie; Shamir, Raanan; Wine, Eytan; Weiss, Batya; Karban, Amir; Shaoul, Ron R; Reif, Shimon S; Yakir, Benjamin; Friedlander, Marcello; Kaniel, Yael; Leshinsky-Silver, Esther

    2005-07-01

    Delayed growth is common in pediatric Crohn's disease (CD). Multiple factors have been shown to affect growth in this situation, the most prominent being the presence and severity of inflammation and inadequate nutritional intake. Inflammation, anorexia, and weight loss are all manifestations of circulating TNF-alpha, which is elevated in CD. The ability to secrete TNF-alpha may be affected by polymorphisms in the TNF-alpha promoter. The aim of our study was to determine whether growth retardation and disease severity in pediatric onset CD are affected by TNF promoter genotype. Genotyping for TNF-alpha and NOD2/CARD15 single nucleotide polymorphisms was performed in 87 patients with detailed growth records. Parameters including disease location and disease severity were recorded, and the effect of these polymorphisms on Z-scores for height and weight at disease onset and during follow-up were analyzed. Lower age of onset was linked to more height retardation, while the presence of colonic disease and the absence of ileal disease were more likely to predict the absence of growth retardation. The presence of two polymorphisms thought to decrease circulating TNF-alpha was associated with higher mean Z-scores for height and a trend toward less growth retardation. Two other polymorphisms were modestly associated with disease severity. Polymorphisms in the TNF-alpha promoter may independently modulate growth and disease severity in pediatric onset CD. The effect of these polymorphisms does not appear to be mediated via weight loss, and is relatively modest.

  12. Relationship of Inflammatory Biomarkers with Severity of Peripheral Arterial Disease

    Directory of Open Access Journals (Sweden)

    Kimihiro Igari

    2016-01-01

    Full Text Available Objective. The pentraxin family, including high-sensitivity C-reactive protein (hs-CRP, serum amyloid P (SAP, and pentraxin 3 (PTX3, has been identified as playing a key role in inflammatory reactions such as in atherosclerosis and cardiovascular disease. In this study, we examined the relationship between peripheral arterial disease (PAD and serum levels of pentraxins. Methods. This study was undertaken via a retrospective review of PAD patients with surgical intervention for lesions of the common femoral artery. We evaluated the preoperative patient conditions, hemodynamic status, such as ankle brachial index (ABI, and clinical ischemic conditions according to Rutherford classification. Preoperatively, we collected blood samples for determining the serum levels of hs-CRP, SAP, and PTX3. Results. Twelve PAD patients with common femoral arterial lesions were treated and examined. The hemodynamic severity of PAD was not negatively correlated with hs-CRP, SAP, or PTX3. The clinical severity evaluated by Rutherford classification was significantly positively correlated with the serum level of PTX3 (p=0.019. Conclusion. We demonstrated that PTX3 might be a better marker of PAD than hs-CRP and SAP. Furthermore, PTX3 might be a prognostic marker to evaluate the severity of PAD.

  13. Divorce and Severity of Coronary Artery Disease: A Multicenter Study

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    Amin Daoulah

    2017-01-01

    Full Text Available The association between marital status and coronary artery disease (CAD is supported by numerous epidemiological studies. While divorce may have an adverse effect on cardiac outcomes, the relationship between divorce and severe CAD is unclear. We conducted a multicenter, observational study of consecutive patients undergoing coronary angiography during the period between April 1, 2013, and March 30, 2014. Of 1,068 patients, 124 (12% were divorced. Divorce was more frequent among women (27% compared to men (6%. Most divorced patients had been divorced only once (49%, but a subset had been divorced 2 (38% or ≥3 (12% times. After adjusting for baseline differences, there was no significant association between divorce and severe CAD in men. In women, there was a significant adjusted association between divorce and severe MVD (OR 2.31 [1.16, 4.59] or LMD (OR 5.91 [2.19, 15.99]. The modification of the association between divorce and severe CAD by gender was statistically significant for severe LMD (Pinteraction 0.0008 and marginally significant for CAD (Pinteraction 0.05. Among women, there was a significant adjusted association between number of divorces and severe CAD (OR 2.4 [95% CI 1.2, 4.5], MVD (OR 2.0 [95% CI 1.4, 3.0], and LMD (OR 3.4 [95% CI 1.9, 5.9]. In conclusion, divorce, particularly multiple divorces, is associated with severe CAD, MVD, and LMD in women but not in men.

  14. Bats as reservoirs of severe emerging infectious diseases.

    Science.gov (United States)

    Han, Hui-Ju; Wen, Hong-ling; Zhou, Chuan-Min; Chen, Fang-Fang; Luo, Li-Mei; Liu, Jian-wei; Yu, Xue-Jie

    2015-07-02

    In recent years severe infectious diseases have been constantly emerging, causing panic in the world. Now we know that many of these terrible diseases are caused by viruses originated from bats (Table 1), such as Ebola virus, Marburg, SARS coronavirus (SARS-CoV), MERS coronavirus (MERS-CoV), Nipah virus (NiV) and Hendra virus (HeV). These viruses have co-evolved with bats due to bats' special social, biological and immunological features. Although bats are not in close contact with humans, spillover of viruses from bats to intermediate animal hosts, such as horses, pigs, civets, or non-human primates, is thought to be the most likely mode to cause human infection. Humans may also become infected with viruses through aerosol by intruding into bat roosting caves or via direct contact with bats, such as catching bats or been bitten by bats. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Vedolizumab Therapy in Severe Pediatric Inflammatory Bowel Disease.

    Science.gov (United States)

    Conrad, Máire A; Stein, Ronen E; Maxwell, Elizabeth C; Albenberg, Lindsey; Baldassano, Robert N; Dawany, Noor; Grossman, Andrew B; Mamula, Petar; Piccoli, David A; Kelsen, Judith R

    2016-10-01

    Vedolizumab is effective for inducing and maintaining remission in adults with inflammatory bowel disease (IBD); however, there is limited pediatric data. This study aimed to describe the adverse events and clinical response to vedolizumab in refractory pediatric IBD. Disease activity indices, clinical response, concomitant medication use, and adverse events were measured over 22 weeks in an observational prospective cohort study of children with refractory IBD who had failed anti-tumor necrosis factor therapy and subsequently initiated vedolizumab therapy. Twenty-one subjects, 16 with Crohn disease, received vedolizumab. Clinical response was observed in 6/19 (31.6%) of the evaluable subjects at week 6 and in 11/19 (57.9%) by week 22. Before induction, 15/21 (71.4%) participants were treated with systemic corticosteroids, as compared with 7/21 (33.3%) subjects at 22 weeks. Steroid-free remission was seen in 1/20 (5.0%) subjects at 6 weeks, 3/20 (15.0%) at 14 weeks, and 4/20 (20.0%) at 22 weeks. There was statistically significant improvement in serum albumin and hematocrit; however, C-reactive protein increased by week 22 (P < 0.05). There were no infusion reactions. Vedolizumab was discontinued in 2 patients because of severe colitis, requiring surgical intervention. There is limited experience with vedolizumab therapy in pediatric IBD. There seems to be a marked number of subjects with clinical response in the first 6 weeks that increases further by week 22 despite the severity of disease in this cohort. Adverse events may not be directly related to vedolizumab. This study is limited by small sample size, and larger prospective studies are warranted.

  16. The airway microbiome in patients with severe asthma: Associations with disease features and severity.

    Science.gov (United States)

    Huang, Yvonne J; Nariya, Snehal; Harris, Jeffrey M; Lynch, Susan V; Choy, David F; Arron, Joseph R; Boushey, Homer

    2015-10-01

    Asthma is heterogeneous, and airway dysbiosis is associated with clinical features in patients with mild-to-moderate asthma. Whether similar relationships exist among patients with severe asthma is unknown. We sought to evaluate relationships between the bronchial microbiome and features of severe asthma. Bronchial brushings from 40 participants in the Bronchoscopic Exploratory Research Study of Biomarkers in Corticosteroid-refractory Asthma (BOBCAT) study were evaluated by using 16S ribosomal RNA-based methods. Relationships to clinical and inflammatory features were analyzed among microbiome-profiled subjects. Secondarily, bacterial compositional profiles were compared between patients with severe asthma and previously studied healthy control subjects (n = 7) and patients with mild-to-moderate asthma (n = 41). In patients with severe asthma, bronchial bacterial composition was associated with several disease-related features, including body mass index (P PERMANOVA), changes in Asthma Control Questionnaire (ACQ) scores (P < .01), sputum total leukocyte values (P = .06), and bronchial biopsy eosinophil values (per square millimeter, P = .07). Bacterial communities associated with worsening ACQ scores and sputum total leukocyte values (predominantly Proteobacteria) differed markedly from those associated with body mass index (Bacteroidetes/Firmicutes). In contrast, improving/stable ACQ scores and bronchial epithelial gene expression of FK506 binding protein (FKBP5), an indicator of steroid responsiveness, correlated with Actinobacteria. Mostly negative correlations were observed between biopsy eosinophil values and Proteobacteria. No taxa were associated with a TH2-related epithelial gene expression signature, but expression of TH17-related genes was associated with Proteobacteria. Patients with severe asthma compared with healthy control subjects or patients with mild-to-moderate asthma were significantly enriched in Actinobacteria, although the largest differences

  17. Neuromuscular findings in thyroid dysfunction: a prospective clinical and electrodiagnostic study

    Science.gov (United States)

    Duyff, R.; Van den Bosch, J.; Laman, D; van Loon, B.-J. P.; Linssen, W.

    2000-01-01

    OBJECTIVES—To evaluate neuromuscular signs and symptoms in patients with newly diagnosed hypothyroidism and hyperthyroidism.
METHODS—A prospective cohort study was performed in adult patients with newly diagnosed thyroid dysfunction. Patients were evaluated clinically with hand held dynamometry and with electrodiagnosis. The clinical features of weakness and sensory signs and the biochemical data were evaluated during treatment.
RESULTS—In hypothyroid patients 79% had neuromuscular complaints, 38% had clinical weakness (manual muscle strength testing) in one or more muscle groups, 42% had signs of sensorimotor axonal neuropathy, and 29% had carpal tunnel syndrome. Serum creatine kinase did not correlate with weakness. After 1 year of treatment 13% of the patients still had weakness. In hyperthyroid patients 67% had neuromuscular symptoms, 62% had clinical weakness in at least one muscle group that correlated with FT4 concentrations, but not with serum CK. Nineteen per cent of the patients had sensory-motor axonal neuropathy and 0% had carpal tunnel syndrome. The neuromuscular signs developed rapidly, early in the course of the disorder and were severe, but resolved rapidly and completely during treatment (average time 3.6months).
CONCLUSIONS—Neuromuscular symptoms and signs were present in most patients. About 40% of the hypothyroid patients and 20% of the hyperthyroid patients had predominantly sensory signs of a sensorimotor axonal neuropathy early in the course of thyroid disease. Weakness in hyperthyroidism evolved rapidly at an early stage of the disorder and resolved completely during treatment, suggesting a functional muscle disorder. Hand held dynamometry is sensitive for the detection of weakness and for the clinical evaluation of treatment effects. Weakness in hypothyroidism is more difficult to treat, suggesting myopathy.

 PMID:10811699

  18. Ammonia modifies enteric neuromuscular transmission through glial γ-aminobutyric acid signaling.

    Science.gov (United States)

    Fried, David E; Watson, Ralph E; Robson, Simon C; Gulbransen, Brian D

    2017-12-01

    Impaired gut motility may contribute, at least in part, to the development of systemic hyperammonemia and systemic neurological disorders in inherited metabolic disorders, or in severe liver and renal disease. It is not known whether enteric neurotransmission regulates intestinal luminal and hence systemic ammonia levels by induced changes in motility. Here, we propose and test the hypothesis that ammonia acts through specific enteric circuits to influence gut motility. We tested our hypothesis by recording the effects of ammonia on neuromuscular transmission in tissue samples from mice, pigs, and humans and investigated specific mechanisms using novel mutant mice, selective drugs, cellular imaging, and enzyme-linked immunosorbent assays. Exogenous ammonia increased neurogenic contractions and decreased neurogenic relaxations in segments of mouse, pig, and human intestine. Enteric glial cells responded to ammonia with intracellular Ca 2+ responses. Inhibition of glutamine synthetase and the deletion of glial connexin-43 channels in hGFAP :: Cre ER T2+/- /connexin43 f/f mice potentiated the effects of ammonia on neuromuscular transmission. The effects of ammonia on neuromuscular transmission were blocked by GABA A receptor antagonists, and ammonia drove substantive GABA release as did the selective pharmacological activation of enteric glia in GFAP::hM3Dq transgenic mice. We propose a novel mechanism whereby local ammonia is operational through GABAergic glial signaling to influence enteric neuromuscular circuits that regulate intestinal motility. Therapeutic manipulation of these mechanisms may benefit a number of neurological, hepatic, and renal disorders manifesting hyperammonemia. NEW & NOTEWORTHY We propose that local circuits in the enteric nervous system sense and regulate intestinal ammonia. We show that ammonia modifies enteric neuromuscular transmission to increase motility in human, pig, and mouse intestine model systems. The mechanisms underlying the

  19. Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

    DEFF Research Database (Denmark)

    Dahlqvist, Julia Rebecka; Vissing, John

    2016-01-01

    There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. When executed properly, exercise can maintain and improve health and reduce the risk of cardiovascular disease, obesity, and diabetes. In persons...... in patients with neuromuscular diseases associated with weakness and wasting. We review studies that have investigated different types of exercise in both myopathies and motor neuron diseases, with particular emphasis on training of persons affected by spinobulbar muscular atrophy (SBMA). Finally, we provide...

  20. Switching between Abstract Rules Reflects Disease Severity but Not Dopaminergic Status in Parkinson's Disease

    Science.gov (United States)

    Kehagia, Angie A.; Cools, Roshan; Barker, Roger A.; Robbins, Trevor W.

    2009-01-01

    This study sought to disambiguate the impact of Parkinson's disease (PD) on cognitive control as indexed by task set switching, by addressing discrepancies in the literature pertaining to disease severity and paradigm heterogeneity. A task set is governed by a rule that determines how relevant stimuli (stimulus set) map onto specific responses…

  1. IS LIPOPROTEIN (A A PREDICTOR OF CORONARY ARTERY DISEASE SEVERITY?

    Directory of Open Access Journals (Sweden)

    Tayyebeh Miandoabi

    2010-12-01

    Full Text Available Abstract    INTRODUCTION: Studies on the association between the plasma concentration of lipoprotein (a and coronary heart disease (CHD have reported conflicting findings.    METHOD AND MATERIALS: The objective of the present study was to evaluate the association between serum levels of lipoprotein (a and ischemic heart disease as well as other cardiovascular risk factors in a population-based study. Lipoprotein (a serum was measured in 142 patients with chronic stable angina undergoing clinically indicated coronary angiography. Lipid profile, fasting blood glucose, anthropometric and clinical parameters were analyzed.    RESULTS: Lipoprotein (a levels were significantly associated with coronary artery stenosis in men, but not in women. Also, an direct association between mean levels of lipoprotein (a and coronary artery stenosis in men younger than 55 years old and an inverse association in men older than 55 years old were observed.     CONCLUSION: Multivariate analysis revealed that lipoprotein (a was considered an independent predictor for severity of CAD in men, especially in younger ages.      Keywords: Lipoprotein (a, cardiovascular risk factors, Ischemic heart disease, coronary angiography.

  2. Moyamoya Disease Clinical Course and Severity in Childhood

    Directory of Open Access Journals (Sweden)

    Ayse Kacar Bayram

    2016-01-01

    Full Text Available Aim: Moyamoya disease (MMD is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years. The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months. Neurological findings at presentation included: motor deficit in 4 patients (80.0%, epileptic seizures in 2 patients (40.0%, movement disorders in 3 patients (60.0%, and headache in 1 patients (20.0%. There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

  3. The relative frequency of common neuromuscular diagnoses in a reference center

    OpenAIRE

    Cotta, Ana; Paim, Júlia Filardi; Carvalho, Elmano; da-Cunha-Júnior, Antonio Lopes; Navarro, Monica M.; Valicek, Jaquelin; Menezes, Miriam Melo; Nunes, Simone Vilela; Xavier-Neto, Rafael; Baptista Junior, Sidney; Lima, Luciano Romero; Takata, Reinaldo Issao; Vargas, Antonio Pedro

    2017-01-01

    ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confir...

  4. Relationship between regional severity of emphysema and coronary heart disease

    International Nuclear Information System (INIS)

    Nagao, Michinobu; Sakai, Shinya; Yasuhara, Yoshifumi; Ikezoe, Junpei; Murase, Kenya; Ichiki, Taku

    2000-01-01

    We analyzed the relationship between regional severity of emphysema, which was evaluated by three-dimensional fractal analysis (3D-FA) of Technegas SPECT images, and coronary heart disease (CHD). For 22 patients with emphysema who underwent Technegas SPECT, we followed up CHD events. The follow-up period was 5.4±0.5 (mean ±SD) years. We defined the upper-lung fractal dimension (U-FD) and lower-lung fractal dimension (L-FD) obtained with 3D-FA of Technegas SPECT images as the regional severity of emphysema. FD became greater with the progression of emphysematous change. During the follow-up period, CHD events occurred in 6 (27%) of the 22 patients. The ratio of U-FD to L-FD for patients with CHD events (0.87±0.22) was significantly smaller than for patients without CHD events (1.52±0.38) (p=0.0015). These findings suggest that severer emphysema in the lower lung indicates a higher risk of CHD than that in the upper lung. (author)

  5. Interpersonal traits change as a function of disease type and severity in degenerative brain diseases.

    Science.gov (United States)

    Sollberger, Marc; Neuhaus, John; Ketelle, Robin; Stanley, Christine M; Beckman, Victoria; Growdon, Matthew; Jang, Jung; Miller, Bruce L; Rankin, Katherine P

    2011-07-01

    Different degenerative brain diseases result in distinct personality changes as a result of divergent patterns of brain damage; however, little is known about the natural history of these personality changes throughout the course of each disease. To investigate how interpersonal traits change as a function of degenerative brain disease type and severity. Using the Interpersonal Adjective Scales, informant ratings of retrospective premorbid and current scores for dominance, extraversion, warmth and ingenuousness were collected annually for 1 to 4 years on 188 patients (67 behavioural variant frontotemporal dementia (bvFTD), 40 semantic dementia (SemD), 81 Alzheimer's disease (AD)) and 65 older healthy controls. Using random coefficient models, interpersonal behaviour scores at very mild, mild or moderate-to-severe disease stages were compared within and between patient groups. Group-level changes from premorbid personality occurred as a function of disease type and severity, and were apparent even at a very mild disease stage (Clinical Dementia Rating=0.5) for all three diseases. Decreases in interpersonal traits were associated with emotional affiliation (ie, extraversion, warmth and ingenuousness) and more rigid interpersonal behaviour differentiated bvFTD and SemD patients from AD patients. Specific changes in affiliative interpersonal traits differentiate degenerative brain diseases even at a very mild disease stage, and patterns of personality change differ across bvFTD, SemD and AD with advancing disease. This study describes the typical progression of change of interpersonal traits in each disease, improving the ability of clinicians and caregivers to predict and plan for symptom progression.

  6. Exercise and cognitive functions in Parkinson's disease: Gender differences and disease severity

    Directory of Open Access Journals (Sweden)

    Claudia Teixeira-Arroyo

    2014-12-01

    Full Text Available This study investigated the effect of a multimodal exercise program on executive functions and memory in people with Parkinson's disease, taking into account disease severity and gender. Twenty-three patients with Parkinson's disease (PD were evaluated before and after a 6-month exercise program to improve executive functions and memory. We observed the effects of the intervention on executive functions (ability to abstract: p = .01, immediate memory (p= .04 and declarative episodic memory (p < .001. Women showed higher scores on declarative episodic memory (p = .03 than men, however there was no interaction between gender and the intervention. Regardless of sex and disease severity, these preliminary results indicate that the multimodal exercise seems to be effective in improving cognitive functions in patients with PD, suggesting that this program can be indicated as a preventive strategy to mitigate progressive cognitive deficits in the later stages of the disease.

  7. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

    OpenAIRE

    Lee, Young il; Mikesh, Michelle; Smith, Ian; Rimer, Mendell; Thompson, Wesley

    2011-01-01

    A mouse model of the devastating human disease "spinal muscular atrophy" (SMA) was used to investigate the severe muscle weakness and spasticity that precedes the death of these animals near the end of the 2nd postnatal week. Counts of motor units to the soleus muscle as well as of axons in the soleus muscle nerve showed no loss of motor neurons. Similarly, neither immunostaining of neuromuscular junctions nor the measurement of the tension generated by nerve stimulation gave evidence of any ...

  8. [Severe neonatal hyperthyroidism which reveals a maternal Graves' disease].

    Science.gov (United States)

    Guérin, B; Vautier, V; Boin-Gay, V; Estrade, G; Choulot, J-J; Doireau, V

    2004-04-01

    Two of every thousand pregnancies are complicated by Graves' disease. Diagnosis is suggested by maternal disorders (tachycardia, exophthalmia, weight loss.) or fetal disorders (tachycardia, intra-uterine growth retardation, preterm birth.). Due to transfer into the fetal compartment of maternal antibodies which stimulate the fetal thyroid by binding to the thyroid thyrotropin (TSH) receptor, only 1% of children born to these mothers are described as having hyperthyroidism. Neonatal thyrotoxicosis disappears with clearance of the maternal antibodies; clinical signs usually disappear during the first four Months of life. The most frequent neonatal clinical signs of thyrotoxicosis are tachycardia, goiter, hyperexcitability, poor weight gain, hepatosplenomegaly, stare and eyelid retraction. Diagnosis is based on determination of the blood level of triiodothyronine (T3), thyroxine (T4) and TSH. To confirm the nature of hyperthyroidism, thyroid-stimulating immunoglobulins (TSI) should be assayed. The kinetics of TSI provides a guide for therapeutic adaptation and disappearance of TSI is a sign of recovery. Rare cases of familial non-autoimmune hyperthyroidism have been shown to be caused by germline mutation of the thyrotropin receptor. We report a case of severe neonatal hyperthyroidism which led to the diagnosis of maternal Graves' disease.

  9. Neuromuscular Junction Impairment in Amyotrophic Lateral Sclerosis: Reassessing the Role of Acetylcholinesterase.

    Science.gov (United States)

    Campanari, Maria-Letizia; García-Ayllón, María-Salud; Ciura, Sorana; Sáez-Valero, Javier; Kabashi, Edor

    2016-01-01

    Amyotrophic Lateral Sclerosis (ALS) is a highly debilitating disease caused by progressive degeneration of motorneurons (MNs). Due to the wide variety of genes and mutations identified in ALS, a highly varied etiology could ultimately converge to produce similar clinical symptoms. A major hypothesis in ALS research is the "distal axonopathy" with pathological changes occurring at the neuromuscular junction (NMJ), at very early stages of the disease, prior to MNs degeneration and onset of clinical symptoms. The NMJ is a highly specialized cholinergic synapse, allowing signaling between muscle and nerve necessary for skeletal muscle function. This nerve-muscle contact is characterized by the clustering of the collagen-tailed form of acetylcholinesterase (ColQ-AChE), together with other components of the extracellular matrix (ECM) and specific key molecules in the NMJ formation. Interestingly, in addition to their cholinergic role AChE is thought to play several "non-classical" roles that do not require catalytic function, most prominent among these is the facilitation of neurite growth, NMJ formation and survival. In all this context, abnormalities of AChE content have been found in plasma of ALS patients, in which AChE changes may reflect the neuromuscular disruption. We review these findings and particularly the evidences of changes of AChE at neuromuscular synapse in the pre-symptomatic stages of ALS.

  10. Disease severity and slower psychomotor speed in adults with sickle cell disease.

    Science.gov (United States)

    Jorgensen, Dana R; Metti, Andrea; Butters, Meryl A; Mettenburg, Joseph M; Rosano, Caterina; Novelli, Enrico M

    2017-09-26

    Psychomotor slowing is common in children with sickle cell disease (SCD), but little is known about its severity in adults. We conducted a cross-sectional study to quantify psychomotor speed, measured with the digit symbol substitution test (DSST), in relationship with disease severity in adults with SCD attending an outpatient clinic (n = 88, age 36.3 years). Genotype was used to group patients in "severe" (homozygous for hemoglobin S or compound heterozygous with β 0 thalassemia) or "moderate" groups (compound heterozygous for HbS, with either HbC or β + thalassemia). Analyses were repeated after exclusion of patients with a history of stroke (n = 11). Mild impairment in processing speed was detectable in both the "severe" and the "moderate" group (30% and 9%, respectively; age-adjusted P = .14). Compared with the "moderate" group, those in the "severe" group had significantly lower standardized DSST scores ( P = .004), independent of adjustment for factors that differed between the groups: hemoglobin, ferritin, hydroxyurea use, blood pressure parameters, and stroke history. Results were similar after excluding patients with stroke. Psychomotor slowing in SCD differs in relationship to genotype; this difference appears unrelated to history of stroke or severity of anemia and other risk factors examined cross-sectionally. Although less prevalent, mild cognitive impairment was also detectable in patients with a less severe genotype. Longitudinal studies of SCD should include all diseases genotypes and examine factors that would reduce the risk of slow processing speed and perhaps more general cognitive impairment in each subgroup.

  11. Loss of Dignity in Severe Chronic Obstructive Pulmonary Disease.

    Science.gov (United States)

    Solomon, Brahm K; Wilson, Keith G; Henderson, Peter R; Poulin, Patricia A; Kowal, John; McKim, Douglas A

    2016-03-01

    The maintenance of dignity is an important concept in palliative care, and the loss of dignity is a significant concern among patients with advanced cancer. The goals of this study were to examine whether loss of dignity is also a concern for patients receiving interdisciplinary rehabilitation for Stage III or IV chronic obstructive pulmonary disease. We examined the prevalence and correlates of loss of dignity and determined whether it improves with treatment. Inpatients underwent a structured interview inquiry around their sense of dignity and completed measures of pulmonary, physical, and psychological function at admission (n = 195) and discharge (n = 162). Loss of dignity was identified as a prominent ongoing concern for 13% of patients. It was correlated with measures of depression and anxiety sensitivity, but not with pulmonary capacity or functional performance. A robust improvement in loss of dignity was demonstrated, with 88% of those who reported a significant problem at admission no longer reporting one at discharge. The prevalence of a problematic loss of dignity among patients with severe chronic obstructive pulmonary disease is at least as high as among those receiving palliative cancer care. Loss of dignity may represent a concern among people with medical illnesses more broadly, and not just in the context of "death with dignity" at the end of life. Furthermore, interdisciplinary care may help to restore a sense of dignity to those individuals who are able to participate in rehabilitation. Copyright © 2016 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.

  12. Association between chronic azotemic kidney disease and the severity of periodontal disease in dogs.

    Science.gov (United States)

    Glickman, Lawrence T; Glickman, Nita W; Moore, George E; Lund, Elizabeth M; Lantz, Gary C; Pressler, Barrak M

    2011-05-01

    Naturally occurring periodontal disease affects >75% of dogs and has been associated with cardiac lesions and presumptive endocarditis. However, the relationships between periodontal disease and chronic kidney disease (CKD) in dogs have not been studied. In a retrospective longitudinal study the incidence of azotemic CKD was compared between a cohort of 164,706 dogs with periodontal disease and a cohort of age-matched dogs with no periodontal disease from a national primary care practice. These dogs contributed 415,971 dog-years of follow-up from 2002 to 2008. Hazard ratios and 95% confidence intervals from Cox regression were used to compare the incidence of azotemic CKD in dogs with stage 1, 2, or 3/4 periodontal disease to dogs with no periodontal disease. The hazard ratio for azotemic CKD increased with increasing severity of periodontal disease (stage 1 hazard ratio=1.8, 95% confidence interval: 1.6, 2.1; stage 2 hazard ratio=2.0, 95% confidence interval: 1.7, 2.3; stage 3/4 hazard ratio=2.7, 95% confidence interval: 2.3, 3.0; P(trend)=periodontal disease was also associated with serum creatinine >1.4 mg/dl and blood urea nitrogen >36 mg/dl, independent of a veterinarian's clinical diagnosis of CKD. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. The temporal patterns of disease severity and prevalence in schistosomiasis

    International Nuclear Information System (INIS)

    Ciddio, Manuela; Gatto, Marino; Casagrandi, Renato; Mari, Lorenzo; Rinaldo, Andrea

    2015-01-01

    Schistosomiasis is one of the most widespread public health problems in the world. In this work, we introduce an eco-epidemiological model for its transmission and dynamics with the purpose of explaining both intra- and inter-annual fluctuations of disease severity and prevalence. The model takes the form of a system of nonlinear differential equations that incorporate biological complexity associated with schistosome's life cycle, including a prepatent period in snails (i.e., the time between initial infection and onset of infectiousness). Nonlinear analysis is used to explore the parametric conditions that produce different temporal patterns (stationary, endemic, periodic, and chaotic). For the time-invariant model, we identify a transcritical and a Hopf bifurcation in the space of the human and snail infection parameters. The first corresponds to the occurrence of an endemic equilibrium, while the latter marks the transition to interannual periodic oscillations. We then investigate a more realistic time-varying model in which fertility of the intermediate host population is assumed to seasonally vary. We show that seasonality can give rise to a cascade of period-doubling bifurcations leading to chaos for larger, though realistic, values of the amplitude of the seasonal variation of fertility

  14. TEAR AND SERUM EOSINOPHIL CATIONIC PROTEIN AS A MARKER OF DISEASE SEVERITY IN ALLERGIC OCULAR DISEASES

    International Nuclear Information System (INIS)

    SOLIMAN, S.ET.; KHALIFA, R.A.

    2007-01-01

    The Eosinophil is a major cellular component in the late allergic response. In its activated state, the Eosinophil liberates performed basic proteins; the most sensitively quantifiable of them is the Eosinophil cationic protein (ECP).In the present study ECP was measured in tear and serum in different forms of ocular allergy to assess its value as a marker of disease severity and usefulness to evaluate topical therapy.Tears and serum were collected from 65 patients with allergic Keratoconjunctivitis, 20 healthy volunteers (6 of them children) with no history or evidence of allergic diseases, as well as, 5 patients with non allergic and untreated blepharo-conjunctivitis. Patients were classified according to their clinical signs and symptoms into four groups:Seasonal allergic conjunctivitis (SAC), 15 patients, Vernal Keratoconjunctivitis (VKC), 15 Palpebral and 6 Limbal, Atopic Keratoconjunctivitis (AKC), 17 patients and, Giant papillary conjunctivitis (GPC), 8 contact lens-induced and 4 suture-induced.Tears were collected by capillary tubes for cytological examination and measurement of ECP using radioimmunoassay methods. Serum was collected for measurement of ECP and atopy screening.Tear-ECP evaluation showed statistically significant elevation in all allergic subjects (p<0.001). Patients with VKC and AKC had significantly higher tear ECP values than patients with GPC and SAC. There was significant correlation between tear ECP values and disease severity.On the contrary, serum ECP values were only elevated significantly in atopic patients, and did not correlate to tear ECP values. Tear cytology was not sensitive to evaluate disease severity. These data demonstrated that tear ECP in contrast to serum ECP is a useful marker for disease severity in allergic ocular diseases and as such could become a valuable objective variable in treatment studies and as an adjunctive diagnostic tool in chronic conditions

  15. C Reactive protein and disease severity in bronchiolitis

    Directory of Open Access Journals (Sweden)

    S. Costa

    2009-01-01

    Full Text Available A diagnosis of bronchiolitis is made clinically and the use of supportive laboratory examinations, including the quantification of C reactive protein (CRP, is not well established.The aim of this study was to evaluate the correlation between CRP value and indirect markers of disease severity in patients with bronchiolitis.This study included the patients diagnosed with bronchiolitis admitted to the Pediatrics Department of S. João Hospital in 2006. A retrospective review was made through analysing clinical files.176 patients aged 0 to 36 months (median of 4 months were included. 63.1% were males. CRP level was measured in 94.3% of the patients, with values ranging from zero to 256 mg/L and a median of 11 mg/L.CRP value in this population had a statistically significant relation with admission to Intensive Care Unit (ICU (p=0.008, length of hospital stay (p=0.025 and need for supplementary oxygen during hospital stay (p=0.022.This work raises the hypothesis that the CRP value on admission might be a marker of disease severity and have prognostic significance in patients with bronchiolitis. Further investigation is necessary to validate these results and exclude the potential confounding effect of associated infections. Resumo: O diagnóstico de bronquiolite aguda é essencialmente clínico. A utilidade de exames laboratoriais, em particular do doseamento da proteína C reactiva (PCR, não está bem estabelecida.O objectivo deste trabalho foi avaliar a relação entre o valor da PCR e os marcadores indirectos de gravidade em doentes com diagnóstico de bronquiolite.Foram incluídos no estudo todos os doentes admitidos no Serviço de Pediatria do HSJ durante o ano de 2006 e que tiveram como diagnóstico principal bronquiolite, tendo sido feita uma revisão retrospectiva do processo clínico desses doentes.Foram incluídos 176 doentes com idades compreendidas entre zero e 36 meses (mediana de 4 meses; 63,1% eram do sexo masculino. O doseamento da

  16. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

    Directory of Open Access Journals (Sweden)

    Svetlana Gorokhova

    2015-12-01

    Full Text Available Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results. We developed a targeted exome approach (MyoPanel2 in order to optimize genetic diagnosis of neuromuscular disorders. Using this approach, we were able to analyse 306 genes known to be mutated in myopathies as well as in related disorders, obtaining 98.8% target sequence coverage at 20×. Moreover, MyoPanel2 was able to detect 99.7% of 11,467 known mutations responsible for neuromuscular disorders. We have then used several quality control parameters to compare performance of the targeted exome approach with that of whole exome sequencing. The results of this pilot study of 140 DNA samples suggest that targeted exome sequencing approach is an efficient genetic diagnostic test for most neuromuscular diseases.

  17. [Prevalence of severe periodontal disease and its association with respiratory disease in hospitalized adult patients in a tertiary care center].

    Science.gov (United States)

    Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; García-Sancho, Cecilia; Franco-Marina, Francisco; González-Cruz, Herminia

    2015-01-01

    Severe periodontal disease is a chronic inflammatory gingival process associated with systemic diseases. To determine the prevalence of severe periodontal disease and its association with respiratory diseases among hospitalized patients at the Institute of Respiratory Diseases "Ismael Cosio Villegas" (INER) in 2011. A cross-sectional study was developed. The severe periodontal disease was diagnosed by the Department of Stomatology. The International Classification of Diseases 10th revision was used. A multinomial logistic was fit to estimate relative-risk. Three thousand and fifty-nine patients were included; 772/3,059 (25.2%) had severe periodontal disease. After controlling for age, sex, inpatient days, death, and socioeconomic status, the infectious respiratory diseases that were significantly associated with severe periodontal disease were: HIV/AIDS (RR: 10.6; 95% CI: 9.1-23.3; p abscess (RR: 2.6; 95% CI: 1.6-7.8; p = 0.002). Lung cancer and pleural diseases were also significantly associated with severe periodontal disease. High prevalence of severe periodontal disease was observed in the different respiratory diseases. Severe periodontal disease was associated with both infectious and non-infectious respiratory diseases. It is important to study an oral health intervention.

  18. New concepts in assessing sickle cell disease severity

    NARCIS (Netherlands)

    Schnog, JJB; Lard, LR; Rojer, RA; Van der Dijs, FPL; Muskiet, FAJ; Duits, AJ

    Vasoocclusion leads to pain, chronic organ damage, and a decreased life expectancy in patients with sickle cell disease. Therapeutic options for sickle cell disease have usually been evaluated according to their capacity for reducing the frequency of vasoocclusive crises requiring clinical

  19. Disseminated bacillus calmette guerin disease in a twin infant with severe combined immunodeficiency disease

    Directory of Open Access Journals (Sweden)

    Hema Mittal

    2014-01-01

    Full Text Available Fatal-disseminated Bacillus Calmette Guerin (BCG disease is well known in infants with severe combined immunodeficiency after BCG vaccination. We report a 7 month male infant delivered as a product of in vitro fertilization and twin gestation that presented with fever, cough and multiple nodular skin lesions. A biopsy of skin lesions revealed the presence of acid fast bacilli. Mycobacterium bovis infection was confirmed by polymerase chain reaction (PCR and molecular studies. Immunological profile confirmed the diagnosis of severe combined immunodeficiency. Only few reports of similar case exist in the literature.

  20. Inflammation aggravates disease severity in Marfan syndrome patients.

    Directory of Open Access Journals (Sweden)

    Teodora Radonic

    Full Text Available BACKGROUND: Marfan syndrome (MFS is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. Numerous studies reveal an involvement of TGF-β signaling. However, the contribution of tissue inflammation is not addressed so far. METHODOLOGY/PRINCIPAL FINDINGS: Here we showed that both TGF-β and inflammation are up-regulated in patients with MFS. We analyzed transcriptome-wide gene expression in 55 MFS patients using Affymetrix Human Exon 1.0 ST Array and levels of TGF-β and various cytokines in their plasma. Within our MFS population, increased plasma levels of TGF-β were found especially in MFS patients with aortic root dilatation (124 pg/ml, when compared to MFS patients with normal aorta (10 pg/ml; p = 8×10(-6, 95% CI: 70-159 pg/ml. Interestingly, our microarray data show that increased expression of inflammatory genes was associated with major clinical features within the MFS patients group; namely severity of the aortic root dilatation (HLA-DRB1 and HLA-DRB5 genes; r = 0.56 for both; False Discovery Rate(FDR = 0%, ocular lens dislocation (RAET1L, CCL19 and HLA-DQB2; Fold Change (FC = 1.8; 1.4; 1.5, FDR = 0% and specific skeletal features (HLA-DRB1, HLA-DRB5, GZMK; FC = 8.8, 7.1, 1.3; FDR = 0%. Patients with progressive aortic disease had higher levels of Macrophage Colony Stimulating Factor (M-CSF in blood. When comparing MFS aortic root vessel wall with non-MFS aortic root, increased numbers of CD4+ T-cells were found in the media (p = 0.02 and increased number of CD8+ T-cells (p = 0.003 in the adventitia of the MFS patients. CONCLUSION/SIGNIFICANCE: In conclusion, our results imply a modifying role of inflammation in MFS. Inflammation might be a novel therapeutic target in these patients.

  1. Hypocholesterolemia as a predictor of disease severity in dengue fever

    International Nuclear Information System (INIS)

    Lodhi, S.; Tahira, Q.A.

    2014-01-01

    Objectives: The objective of this study was to determine the difference between total cholesterol (TC) of dengue fever (DF) and dengue hemorrhagic fever (DHF) patients and also between DHF patients with favourable (DHF I and II) and adverse (DHF III and IV) outcome. Methodology: This comparative cross - sectional study was conducted in the Department of Medicine, Mayo Hospital, Lahore, from August to November 2012. The study comprised of 100 febrile patients with positive dengue serology. TC was measured on the admission day. The patients were observed during admission period for clinical outcome i.e. DF and DHF. DHF patients were graded as I - IV and grouped as favourable (I and II) and adverse (III and IV) out- come. Results: Out of 100 patients included in the study, 64 were males and 36 were females with mean age 33.03 ± 14.5 years and mean TC 3.02 ± 0.88 mmollL. The 63 DF and 37 DHF patients had mean ages of 30.21 ± 12.7 and 37.84 ± 16.2lyears respectively (p-value 0.017) and mean TC 3.43 +- 0.79 and 2.34 ± 0.56 mmollL respectively (p-value 0.000). M:F for DF and DHF was 2:1 and 1.47:1 respectively (p-value 0.001). Among 37 DHF patients, there were 16 DHF I, 8 DHF II, 10 DHF III and 3 DHF IV patients. For DHF I - IV, mean TC was 2.77 ± 0.45, 2.16 ± 0.33, 2.05 ± 0.35 and 1.49 ± 0.35 mmollL respectively. DHF patients with favourable and adverse out.come had mean TC 2.55 ± 0.5 and 1.92 ± 0.42 mmolll respectively (p = value 0.000). Conclusion: Low serum TC strongly correlated with disease severity in dengue fever patients. (author)

  2. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons.

    Science.gov (United States)

    Lee, Young Il; Mikesh, Michelle; Smith, Ian; Rimer, Mendell; Thompson, Wesley

    2011-08-15

    A mouse model of the devastating human disease "spinal muscular atrophy" (SMA) was used to investigate the severe muscle weakness and spasticity that precede the death of these animals near the end of the 2nd postnatal week. Counts of motor units to the soleus muscle as well as of axons in the soleus muscle nerve showed no loss of motor neurons. Similarly, neither immunostaining of neuromuscular junctions nor the measurement of the tension generated by nerve stimulation gave evidence of any significant impairment in neuromuscular transmission, even when animals were maintained up to 5days longer via a supplementary diet. However, the muscles were clearly weaker, generating less than half their normal tension. Weakness in 3 muscles examined in the study appears due to a severe but uniform reduction in muscle fiber size. The size reduction results from a failure of muscle fibers to grow during early postnatal development and, in soleus, to a reduction in number of fibers generated. Neuromuscular development is severely delayed in these mutant animals: expression of myosin heavy chain isoforms, the elimination of polyneuronal innervation, the maturation in the shape of the AChR plaque, the arrival of SCs at the junctions and their coverage of the nerve terminal, the development of junctional folds. Thus, if SMA in this particular mouse is a disease of motor neurons, it can act in a manner that does not result in their death or disconnection from their targets but nonetheless alters many aspects of neuromuscular development. Copyright © 2011 Elsevier Inc. All rights reserved.

  3. Neuromuscular Manifestations of West Nile Virus Infection

    Directory of Open Access Journals (Sweden)

    A. Arturo eLeis

    2012-03-01

    Full Text Available The most common neuromuscular manifestation of West Nile virus (WNV infection is a poliomyelitis syndrome with asymmetric paralysis variably involving one (monoparesis to four limbs (quadriparesis, with or without brainstem involvement and respiratory failure. This syndrome of acute flaccid paralysis may occur without overt fever or meningoencephalitis. Although involvement of anterior horn cells in the spinal cord and motor neurons in the brainstem are the major sites of pathology responsible for neuromuscular signs, inflammation also may involve skeletal or cardiac muscle (myositis, myocarditis, motor axons (polyradiculitis, peripheral nerve (Guillain-Barré syndrome, brachial plexopathy. In addition, involvement of spinal sympathetic neurons and ganglia provides a plausible explanation for autonomic instability seen in some patients. Many patients also experience prolonged subjective generalized weakness and disabling fatigue. Despite recent evidence that WNV may persist long term in the central nervous system or periphery in animals, the evidence in humans is controversial. WNV persistence would be of great concern in immunosuppressed patients or in those with prolonged or recurrent symptoms. Support for the contention that WNV can lead to autoimmune disease arises from reports of patients presenting with various neuromuscular diseases that presumably involve autoimmune mechanisms (GBS, other demyelinating neu¬ropathies, myasthenia gravis, brachial plexopathies, stiff-person syndrome, and delayed or recurrent symptoms. Although there is no specific treatment or vaccine currently approved in humans, and the standard remains supportive care, drugs that can alter the cascade of immunobiochemical events leading to neuronal death may be potentially useful (high-dose corticosteroids, interferon preparations, and intravenous immune globulin containing WNV-specific antibodies. Human experience with these agents seems promising based on anecdotal

  4. Frequency of ECG abnormalities in patients of chronic obstructive pulmonary disease accordigng to disease severity

    International Nuclear Information System (INIS)

    Shabbir, A.; Zaidi, S. B. H.; Nisar, S.

    2017-01-01

    Objective: The objective of this study was to find out the frequency of ECG abnormalities in patients of COPD in relation to disease severity. Study Design: Cross Sectional study. Place and Duration of Study: This study was carried out at the Department of Medicine, Military Hospital Rawalpindi, from Oct 2011 to Jun 2012. Material and Methods: All patients presenting to the Department of Medicine both inpatient and outpatient, with diagnosis of COPD were included in the study. Patients with cardiac comorbidities were excluded. Also, patients on diuretics and long term oxygen therapy were excluded. A total of three hundred and forty three patients (343) were included in the study. Spirometry of all these patients was done to determine the FEV1 and FVC in order to classify the grade of severity of COPD. Standard 12 lead ECG of all these patients was done to find out the various ECG abnormalities. Results: About 77 (22.5 percent) patients had mild COPD, while moderate COPD was seen in 121 (35.3 percent). Severe COPD was seen in 100 (29.2 percent) patients and very severe COPD was seen in 45 (13.1 percent) patients. The most common ECG abnormalities noted was right atrial enlargement (RAE) in 6 (7.8 percent) patients of mild COPD, 27 (22.3 percent) patients of moderate, 48 (48 percent) patients of severe and 24 (53.3 percent) patients of very severe COPD. Right ventricular hypertrophy (RVH) in 1 (1.3 percent) patient of mild, 7 (5.8 percent) patients of moderate, 19 (19 percent) patients of severe and 12 (26.7 percent) patients of very severe COPD. Sinus tachycardia was present in 6 (7.8 percent) patients of mild, 17 (14 percent) patients of moderate, 19 (19 percent) patients of severe and 10 (22.2 percent) patients of very severe COPD. Right bundle branch block (RBBB) was seen in 5 (6.5 percent) patients of mild, 9 (7.4 percent) patients of moderate, 13 (13 percent) patients of severe and 9 (20 percent) patients of very severe COPD. SVT was present in 1 (1.3 percent

  5. Cardiac Complications, Earlier Treatment, and Initial Disease Severity in Kawasaki Disease.

    Science.gov (United States)

    Abrams, Joseph Y; Belay, Ermias D; Uehara, Ritei; Maddox, Ryan A; Schonberger, Lawrence B; Nakamura, Yosikazu

    2017-09-01

    To assess if observed higher observed risks of cardiac complications for patients with Kawasaki disease (KD) treated earlier may reflect bias due to confounding from initial disease severity, as opposed to any negative effect of earlier treatment. We used data from Japanese nationwide KD surveys from 1997 to 2004. Receipt of additional intravenous immunoglobulin (IVIG) (data available all years) or any additional treatment (available for 2003-2004) were assessed as proxies for initial disease severity. We determined associations between earlier or later IVIG treatment (defined as receipt of IVIG on days 1-4 vs days 5-10 of illness) and cardiac complications by stratifying by receipt of additional treatment or by using logistic modeling to control for the effect of receiving additional treatment. A total of 48 310 patients with KD were included in the analysis. In unadjusted analysis, earlier IVIG treatment was associated with a higher risk for 4 categories of cardiac complications, including all major cardiac complications (risk ratio, 1.10; 95% CI, 1.06-1.15). Stratifying by receipt of additional treatment removed this association, and earlier IVIG treatment became protective against all major cardiac complications when controlling for any additional treatment in logistic regressions (OR, 0.90; 95% CI, 0.80-1.00). Observed higher risks of cardiac complications among patients with KD receiving IVIG treatment on days 1-4 of the illness are most likely due to underlying higher initial disease severity, and patients with KD should continue to be treated with IVIG as early as possible. Published by Elsevier Inc.

  6. Dengue infection severity score – improvised disease management

    Directory of Open Access Journals (Sweden)

    Mahmood SU

    2016-08-01

    Full Text Available Syed Uzair Mahmood,1 Maryam Jamil Syed,1 Aisha Jamal,1 Maria Shoaib2 1Sindh Medical College, Jinnah Sindh Medical University, Karachi, Pakistan; 2Dow Medical College, Dow University of Health Sciences, Karachi, PakistanWe would like to add our views regarding the paper “Validation of Dengue infection severity score” by Pongpan et al.1 As the paper outlines, the purpose of the Dengue Severity Score is to classify individuals with dengue infection into three levels of severity with clinically acceptable underestimation or overestimation. View the original paper by Pongpan and colleagues. 

  7. Onercept for moderate-to-severe Crohn's disease

    DEFF Research Database (Denmark)

    Rutgeerts, Paul; Sandborn, William J; Fedorak, Richard N

    2006-01-01

    BACKGROUND AND AIMS: Onercept is a recombinant, soluble human p55 receptor to tumor necrosis factor-alpha. METHODS: A randomized, double-blind, placebo-controlled, dose-ranging trial was performed to evaluate the efficacy of onercept induction therapy in patients with Crohn's disease (CD). Patien...

  8. Atypical pestivirus and severe respiratory disease in calves, Europe.

    Science.gov (United States)

    Decaro, Nicola; Lucente, Maria Stella; Mari, Viviana; Cirone, Francesco; Cordioli, Paolo; Camero, Michele; Sciarretta, Rossana; Losurdo, Michele; Lorusso, Eleonora; Buonavoglia, Canio

    2011-08-01

    In 2010, a HoBi-like pestivirus was isolated from clinically affected calves in Italy. This European virus reproduced a milder form of disease under experimental conditions and was genetically related to previously reported HoBi-like strains. Isolation of this novel virus from a clinical outbreak may have implications for cattle health and prophylactic programs.

  9. FUROSEMIDE TEST: ITS PATTERN IN NOT SEVERE CHRONIC RENAL DISEASE

    Directory of Open Access Journals (Sweden)

    Carlos G. Musso

    2008-01-01

    Full Text Available Furosemide test is a simple and useful test of renal physiology used to evaluate the capability of the collecting tubules to secrete potassium under the effect of serum aldosterone. Its behaviour pattern has already been established in children and young adults but not described in chronic renal disease patients yet, which we explored in this study.Material & Method: Twenty-six young volunteers (between 20 and 40 years old, chronically on a low potassium diet (40 mmol of K day were studied: twenty of them were healthy young ( they were neither suffering form diseases nor on any medication, and the rest were young patients suffering from stage II / III chronic renal disease (damaged kidney with GFR between 83.1 ml-min to 39.2 ml-min secondary to glomerular diseases documented by kidney biopsy. None of the studied chronic renal disease patients were suffering from diabetes mellitus, urinary obstruction, nor treated with dyskalemia generating drugs, such as: diuretics, angiotensin converting enzyme inhibitors, angiotensin receptor antagonists, etc. Before, while the test was being carried out and after 180 minutes of a single dose of intravenous furosemide (1 mg/kg, urine and blood samples were obtained, for creatinine and potassium levels. From these data we calculated fractional excretion (FE of potassium. Statistical analysis was performed applying Student´s t-test.Results: There was no significant difference neither in pre-furosemide (basal and post-furosemide average FE of potassium between the healthy and chronic renal disease (CRD group: 16.4 ± 8.6% (CRD vs 11.5 ± 4.6% (healthy (p = NS ; 40.8 ± 3.2 % (CRD vs 35.4 ± 8.9% (healthy (p = NS respectively. Conversely, there was a significant difference in post-furosemide peak FE of potassium value, which was higher and delayed in the CRD group compared to the healthy one: 49.5 ± 8.2 % at 118 mins (CRD vs 31.6 ± 11% at 30 mins (healthy (p = 0.001.Conclusion: Furosemide test showed a

  10. Neuromuscular ultrasound of cranial nerves.

    Science.gov (United States)

    Tawfik, Eman A; Walker, Francis O; Cartwright, Michael S

    2015-04-01

    Ultrasound of cranial nerves is a novel subdomain of neuromuscular ultrasound (NMUS) which may provide additional value in the assessment of cranial nerves in different neuromuscular disorders. Whilst NMUS of peripheral nerves has been studied, NMUS of cranial nerves is considered in its initial stage of research, thus, there is a need to summarize the research results achieved to date. Detailed scanning protocols, which assist in mastery of the techniques, are briefly mentioned in the few reference textbooks available in the field. This review article focuses on ultrasound scanning techniques of the 4 accessible cranial nerves: optic, facial, vagus and spinal accessory nerves. The relevant literatures and potential future applications are discussed.

  11. Gastroesophageal scintigraphy to assess the severity of gastroesophageal reflux disease

    International Nuclear Information System (INIS)

    Menin, R.A.; Malmud, L.S.; Petersen, R.P.; Maier, W.P.; Fisher, R.S.

    1980-01-01

    Thirty-six (36) patients with symptomatic gastroesophageal reflux were studied. Symptoms of heartburn, regurgitation, and dysphagia were scored as to their severity and compared to quantitative tests of gastroesophageal reflux. Patients were studied with the acid reflux test, fiberoptic endoscopy, exophageal mucosal biopsy with a pinch forceps, esophageal manometry, and radioisotopic gastroesophgeal scintigraphy. Symptoms were scored according to an arbitrary grading system as mild, moderate, or severe. There were significant correlations between symptoms scores and both the degree of endoscopic esophagitis and the gastroesophageal reflux indices as measured by the radioisotopic scintiscan, but not with the degree of histologic esophagitis or lower esophageal sphincter pressure. Review of the findings suggest the following profile for patients who might require antireflux surgery: severe symptoms; presence of endoscopic esophagitis; resting lower esophageal sphincter pressure below 10 mmHg; and gastroesophageal reflux index above 10%

  12. Severe Family Violence and Alzheimer's Disease: Prevalence and Risk Factors.

    Science.gov (United States)

    Paveza, Gregory J.; And Others

    1992-01-01

    Examined violence among 184 Alzheimer patients and their caregivers. Analysis of severe violence subscale of Conflict Tactics Scale indicated that 15.8 percent of patients had been violent in year since diagnosis; 5.4 percent of caregivers had been violent toward patient; and prevalence of violence was 17.4 percent. Variables most associated with…

  13. Predicting Mycosphaerella leaf disease severity in a Eucalyptus ...

    African Journals Online (AJOL)

    Digital remote sensing is rapidly developing into an operational tool for forest health assessment at a range of scales. A key aspect of this development is the derivation of models relating spectral data contained in the images to the extent and severity of plant stress symptoms. This study assesses the utility of high spatial ...

  14. Markers of disease severity are associated with malnutrition in Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Jamie M Sheard

    Full Text Available OBJECTIVE: In Parkinson's disease (PD, commonly reported risk factors for malnutrition in other populations commonly occur. Few studies have explored which of these factors are of particular importance in malnutrition in PD. The aim was to identify the determinants of nutritional status in people with Parkinson's disease (PWP. METHODS: Community-dwelling PWP (>18 years were recruited (n = 125; 73M/52F; Mdn 70 years. Self-report assessments included Beck's Depression Inventory (BDI, Spielberger Trait Anxiety Inventory (STAI, Scales for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT, Modified Constipation Assessment Scale (MCAS and Freezing of Gait Questionnaire (FOG-Q. Information about age, PD duration, medications, co-morbid conditions and living situation was obtained. Addenbrooke's Cognitive Examination (ACE-R, Unified Parkinson's Disease Rating Scale (UPDRS II and UPDRS III were performed. Nutritional status was assessed using the Subjective Global Assessment (SGA as part of the scored Patient-Generated Subjective Global Assessment (PG-SGA. RESULTS: Nineteen (15% were malnourished (SGA-B. Median PG-SGA score was 3. More of the malnourished were elderly (84% vs. 71% and had more severe disease (H&Y: 21% vs. 5%. UPDRS II and UPDRS III scores and levodopa equivalent daily dose (LEDD/body weight (mg/kg were significantly higher in the malnourished (Mdn 18 vs. 15; 20 vs. 15; 10.1 vs. 7.6 respectively. Regression analyses revealed older age at diagnosis, higher LEDD/body weight (mg/kg, greater UPDRS III score, lower STAI score and higher BDI score as significant predictors of malnutrition (SGA-B. Living alone and higher BDI and UPDRS III scores were significant predictors of a higher log-adjusted PG-SGA score. CONCLUSIONS: In this sample of PWP, the rate of malnutrition was higher than that previously reported in the general community. Nutrition screening should occur regularly in those with more severe disease and depression. Community

  15. Acute neuromuscular weakness associated with dengue infection

    Directory of Open Access Journals (Sweden)

    Harmanjit Singh Hira

    2012-01-01

    Full Text Available Background: Dengue infections may present with neurological complications. Whether these are due to neuromuscular disease or electrolyte imbalance is unclear. Materials and Methods: Eighty-eight patients of dengue fever required hospitalization during epidemic in year 2010. Twelve of them presented with acute neuromuscular weakness. We enrolled them for study. Diagnosis of dengue infection based on clinical profile of patients, positive serum IgM ELISA, NS1 antigen, and sero-typing. Complete hemogram, kidney and liver functions, serum electrolytes, and creatine phosphokinase (CPK were tested. In addition, two patients underwent nerve conduction velocity (NCV test and electromyography. Results: Twelve patients were included in the present study. Their age was between 18 and 34 years. Fever, myalgia, and motor weakness of limbs were most common presenting symptoms. Motor weakness developed on 2 nd to 4 th day of illness in 11 of 12 patients. In one patient, it developed on 10 th day of illness. Ten of 12 showed hypokalemia. One was of Guillain-Barré syndrome and other suffered from myositis; they underwent NCV and electromyography. Serum CPK and SGOT raised in 8 out of 12 patients. CPK of patient of myositis was 5098 IU. All of 12 patients had thrombocytopenia. WBC was in normal range. Dengue virus was isolated in three patients, and it was of serotype 1. CSF was normal in all. Within 24 hours, those with hypokalemia recovered by potassium correction. Conclusions: It was concluded that the dengue virus infection led to acute neuromuscular weakness because of hypokalemia, myositis, and Guillain-Barré syndrome. It was suggested to look for presence of hypokalemia in such patients.

  16. Roles of neuro-exocytotic proteins at the neuromuscular junction

    NARCIS (Netherlands)

    Sons-Michel, Michèle S.

    2011-01-01

    The aim of the studies described in the thesis was to elucidate the roles of several neuro-exocytotic proteins at the motor nerve terminal in neuromuscular synaptic transmission, making use of genetic knockout (KO) mice, each missing one (or more) neuro-exocytotic proteins. In addition, it was

  17. Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2011-05-01

    Full Text Available Reports an error in Davis et al. (2010.  The functional motor scale used in Davis et al. (2010 was the EK (Egen Klassifikation Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997.  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI: 10.2458/azu_jmmss.v1i2.12366

  18. Severe right heart failure in a patient with Grave's disease.

    Science.gov (United States)

    Xenopoulos, N P; Braden, G A; Applegate, R J

    1996-11-01

    This brief report presents a patient with isolated right heart failure and two rare underlying causes, hyperthyroidism and dysplastic tricuspid valve. Repair of the tricuspid valve and treatment of the hyperthyroidism were both essential for successful treatment of the right heart failure. Most important, recrudescence of hyperthyroidism in this patient was associated with reappearance of florid right heart failure. This report provides further information about a potential linkage of hyperthyroidism and severe right heart failure.

  19. A novel missense Norrie disease mutation associated with a severe ocular phenotype.

    Science.gov (United States)

    Khan, Arif O; Shamsi, Farrukh A; Al-Saif, Amr; Kambouris, Marios

    2004-01-01

    Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.

  20. Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease

    Science.gov (United States)

    2018-04-11

    Scoliosis; Idiopathic, Infantile; Scoliosis; Juvenile; Scoliosis Neuromuscular; Scoliosis in Neurofibromatosis; Scoliosis; Congenital, Postural; Scoliosis in Skeletal Dysplasia; Scoliosis Associated With Other Conditions; Scoliosis; Congenital, Due to Bony Malformation; Scoliosis

  1. Vocational perspectives and neuromuscular disorders

    NARCIS (Netherlands)

    Andries, F.; Wevers, C. W.; Wintzen, A. R.; Busch, H. F.; Höweler, C. J.; de Jager, A. E.; Padberg, G. W.; de Visser, M.; Wokke, J. H.

    1997-01-01

    The present study analyses the actual occupational situation, vocational handicaps and past labour career of a group of about 1000 Dutch patients suffering from a neuromuscular disorder (NMD). On the basis of the likelihood of a substantial employment history and sufficient numbers of patients, four

  2. Vocational perspectives and neuromuscular disorders

    NARCIS (Netherlands)

    Andries, F; Wevers, CWJ; Wintzen, AR; Busch, HFM; Howeler, CJ; deJager, AEJ; Padberg, GW; deVisser, M; Wokke, JHJ

    The present study analyses the actual occupational situation, vocational handicaps and past labour career of a group of about 1000 Dutch patients suffering from a neuromuscular disorder (NMD). On the basis of the likelihood of a substantial employment history and sufficient numbers of patients, four

  3. Dependence as a unifying construct in defining Alzheimer's disease severity.

    Science.gov (United States)

    McLaughlin, Trent; Feldman, Howard; Fillit, Howard; Sano, Mary; Schmitt, Frederick; Aisen, Paul; Leibman, Christopher; Mucha, Lisa; Ryan, J Michael; Sullivan, Sean D; Spackman, D Eldon; Neumann, Peter J; Cohen, Joshua; Stern, Yaakov

    2010-11-01

    This article reviews measures of Alzheimer's disease (AD) progression in relation to patient dependence and offers a unifying conceptual framework for dependence in AD. Clinicians typically characterize AD by symptomatic impairments in three domains: cognition, function, and behavior. From a patient's perspective, changes in these domains, individually and in concert, ultimately lead to increased dependence and loss of autonomy. Examples of dependence in AD range from a need for reminders (early AD) to requiring safety supervision and assistance with basic functions (late AD). Published literature has focused on the clinical domains as somewhat separate constructs and has given limited attention to the concept of patient dependence as a descriptor of AD progression. This article presents the concept of dependence on others for care needs as a potential method for translating the effect of changes in cognition, function, and behavior into a more holistic, transparent description of AD progression. Copyright © 2010. Published by Elsevier Inc.

  4. PTX3 predicts severe disease in febrile patients at the emergency department

    NARCIS (Netherlands)

    de Kruif, Martijn D.; Limper, Maarten; Sierhuis, Karlien; Wagenaar, Jiri F. P.; Spek, C. Arnold; Garlanda, Cecilia; Cotena, Alessia; Mantovani, Alberto; ten Cate, Hugo; Reitsma, Pieter H.; van Gorp, Eric C. M.

    2010-01-01

    Objectives: The long pentraxin PTX3 is a promising marker of disease severity in severely ill patients. In order to identify patients warranting critical care as quickly as possible, we investigated the value of PTX3 as a biomarker for disease severity in patients presenting with fever at the

  5. Comparison of disease-severity measures within severe and very severe COPD patients: results from a nationally representative chart review and patient survey

    Directory of Open Access Journals (Sweden)

    Solem CT

    2014-09-01

    Full Text Available Caitlyn T Solem,1 Shawn X Sun,2 Sizhu Liu,1 Cynthia Macahilig,3 Monica Katyal,3 Xin Gao,1 Andrew F Shorr4 1Pharmerit International, Bethesda, MD, 2Forest Research Institute, Jersey City, NJ, 3Medical Data Analytics, Parsippany, NJ, 4Pulmonary Critical Care, Washington Hospital Center and Georgetown University, Washington, DC, USA Objective: This study aimed to compare spirometry- and risk + symptom-based classification systems to physician-based severity assessment and find which system is most predictive of patient-reported health status, as measured by the St George's Respiratory Questionnaire for COPD (chronic obstructive pulmonary disease; SGRQ-C.Materials and methods: In this chart review/patient survey, 99 physicians recruited patients with physician-assessed severe or very severe COPD who had recently experienced a moderate or severe exacerbation. A cross-tabulation was undertaken comparing physician report, spirometry (mild/moderate, forced expiratory volume in 1 second [FEV1] ≥50%; severe, 30% ≤ FEV1 <50%; very severe, FEV1 <30% predicted, and risk + symptom-based (A, low risk/fewer symptoms; B, low risk/more symptoms; C, high risk/fewer symptoms; D, high risk/more symptoms severity systems. Analysis of covariance models were run for SGRQ-C, varying COPD-severity systems.Results: Of 244 patients, 58.6% were severe and 34.8% very severe by physician report, 70% had FEV1 ≤50% at their most recent visit, and 86% fell into quadrant D. Spirometry and physician report had 57.4% agreement, with physicians often indicating higher severity. Physician report and risk + symptom agreement was high (81.2% severe/very severe and D. Physician-reported severity, risk + symptoms, exacerbations in the previous year, and symptoms were significant SGRQ-C predictors, while spirometry was not.Conclusion: For recently exacerbating severe or very severe COPD patients, risk + symptoms more closely aligned with physician-reported severity and SGRQ-C versus

  6. Dutch pediatricians' views on the use of neuromuscular blockers for dying neonates: a qualitative study

    NARCIS (Netherlands)

    ten Cate, K.; van de Vathorst, S.

    2015-01-01

    To assess Dutch pediatricians' views on neuromuscular blockers for dying neonates. Qualitative study involving in-depth interviews with 10 Dutch pediatricians working with severely ill neonates. Data were analyzed using appropriate qualitative research techniques. Participants explained their view

  7. Novel vibration-exercise instrument with dedicated adaptive filtering for electromyographic investigation of neuromuscular activation

    NARCIS (Netherlands)

    Xu, L.; Rabotti, C.; Mischi, M.

    2012-01-01

    Vibration exercise (VE) has been suggested as an effective methodology to improve muscle strength and power performance. Several studies link the effects of vibration training to enhanced neuromuscular demand, typically ascribed to involuntary reflex mechanisms. However, the underlying mechanisms

  8. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders

    NARCIS (Netherlands)

    Mullender, M.G.; Blom, N.; de Kleuver, M.; Fock, J.; Hitters, W.; Horemans, A.; Kalkman, C.; Pruijs, J.; Timmer, R.; Titarsolej, P.; van Haasteren, N.; Jager, M.V.; van Vught, A.; van Royen, B.J.

    2008-01-01

    Background: Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a progressive scoliosis. A severe scoliosis compromises respiratory function and makes sitting more difficult. Spinal surgery is

  9. Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

    DEFF Research Database (Denmark)

    George, Michaela F; Briggs, Farren B S; Shao, Xiaorong

    2016-01-01

    associated with disease severity after accounting for cohort, sex, age at onset, and HLA-DRB1*15:01. After restricting analyses to cases with disease duration ≥10 years, associations were null (p value ≥0.05). No SNP was associated with disease severity after adjusting for multiple testing. CONCLUSIONS......OBJECTIVE: We investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS). METHODS: Ten unique MS case data sets were analyzed. The Multiple Sclerosis Severity Score (MSSS) was calculated using the Expanded...

  10. Effectiveness of Neuromuscular Training Based on the Neuromuscular Risk Profile.

    Science.gov (United States)

    Hewett, Timothy E; Ford, Kevin R; Xu, Yingying Y; Khoury, Jane; Myer, Gregory D

    2017-07-01

    The effects of targeted neuromuscular training (TNMT) on movement biomechanics associated with the risk of anterior cruciate ligament (ACL) injuries are currently unknown. Purpose/Hypotheses: To determine the effectiveness of TNMT specifically designed to increase trunk control and hip strength. The hypotheses were that (1) TNMT would decrease biomechanical and neuromuscular factors related to an increased ACL injury risk and (2) TNMT would decrease these biomechanical and neuromuscular factors to a greater extent in athletes identified as being at a high risk for future ACL injuries. Controlled laboratory study. Female athletes who participated in jumping, cutting, and pivoting sports underwent 3-dimensional biomechanical testing before the season and after completing TNMT. During testing, athletes performed 3 different types of tasks: (1) drop vertical jump, (2) single-leg drop, and (3) single-leg cross drop. Analysis of covariance was used to examine the treatment effects of TNMT designed to enhance core and hip strength on biomechanical and neuromuscular characteristics. Differences were also evaluated by risk profile. Differences were considered statistically significant at P risk before the intervention (risk profile III) had a more significant treatment effect of TNMT than low-risk groups (risk profiles I and II). TNMT significantly improved proximal biomechanics, including increased hip external rotation moments and moment impulses, increased peak trunk flexion, and decreased peak trunk extension. TNMT that focuses exclusively on proximal leg and trunk risk factors is not, however, adequate to induce significant changes in frontal-plane knee loading. Biomechanical changes varied across the risk profile groups, with higher risk groups exhibiting greater improvements in their biomechanics.

  11. Neurologic and neuromuscular functional disorders of the pharynx and esophagus

    International Nuclear Information System (INIS)

    Wuttge-Hannig, A.; Hannig, C.

    2007-01-01

    Neurologic swallowing disorders are an increasing diagnostic problem in our overaged population. Undiagnosed chronic aspiration pneumonia is the cause of death in 20-40% of all inhabitants of nursing homes. In neurologic diseases of the pharynx, the physiologic interaction of pharyngeal contraction, closure of the pharynx, and esophageal motility are frequently disturbed. This may be due to cortical, bulbar, or cerebellar brain damage of ischemic or traumatic origin. Furthermore diseases or peripheral nerves, muscles, and synapses cause disturbances. The most life-threatening complication of these disturbances is tracheal aspiration, which requires an iso-osmolar contrast medium for imaging studies that cause no or minimal pulmonary problems. Utilizing fast dynamic documentation we can analyze the swallowing act in 35 images within the passage time of 0.7 s. This requires digital frame sequences from 15-50 images/s, which can be provided by DSI or videofluoroscopy. Neurologic and neuromuscular patterns are demonstrated with and without tracheal aspiration. The differentiation of aspiration in a so-called pre-, intra-, and postdeglutitive form is possible. We distinguish four grades of severity of aspiration, which is also of great clinical impact for the differential rehabilitation therapy. The efficiency of the rehabilitation protocol can be assessed by the dynamic swallowing studies. (orig.) [de

  12. How many standard area diagram sets are needed for accurate disease severity assessment

    Science.gov (United States)

    Standard area diagram sets (SADs) are widely used in plant pathology: a rater estimates disease severity by comparing an unknown sample to actual severities in the SADs and interpolates an estimate as accurately as possible (although some SADs have been developed for categorizing disease too). Most ...

  13. The prevalence of severe fatigue in rheumatic diseases: an international study.

    Science.gov (United States)

    Overman, Cécile L; Kool, Marianne B; Da Silva, José A P; Geenen, Rinie

    2016-02-01

    Fatigue is a common, disabling, and difficult-to-manage problem in rheumatic diseases. Prevalence estimates of fatigue within rheumatic diseases vary considerably. Data on the prevalence of severe fatigue across multiple rheumatic diseases using a similar instrument is missing. Our aim was to provide an overview of the prevalence of severe fatigue across a broad range of rheumatic diseases and to examine its association with clinical and demographic variables. Online questionnaires were filled out by an international sample of 6120 patients (88 % female, mean age 47) encompassing 30 different rheumatic diseases. Fatigue was measured with the RAND(SF)-36 Vitality scale. A score of ≤35 was taken as representing severe fatigue (90 % sensitivity and 81 % specificity for chronic fatigue syndrome). Severe fatigue was present in 41 to 57 % of patients with a single inflammatory rheumatic disease such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, Sjögren's syndrome, psoriatic arthritis, and scleroderma. Severe fatigue was least prevalent in patients with osteoarthritis (35 %) and most prevalent in patients with fibromyalgia (82 %). In logistic regression analysis, severe fatigue was associated with having fibromyalgia, having multiple rheumatic diseases without fibromyalgia, younger age, lower education, and language (French: highest prevalence; Dutch: lowest prevalence). In conclusion, one out of every two patients with a rheumatic disease is severely fatigued. As severe fatigue is detrimental to the patient, the near environment, and society at large, unraveling the underlying mechanisms of fatigue and developing optimal treatment should be top priorities in rheumatologic research and practice.

  14. An Acoustic Study of the Relationships among Neurologic Disease, Dysarthria Type, and Severity of Dysarthria

    Science.gov (United States)

    Kim, Yunjung; Kent, Raymond D.; Weismer, Gary

    2011-01-01

    Purpose: This study examined acoustic predictors of speech intelligibility in speakers with several types of dysarthria secondary to different diseases and conducted classification analysis solely by acoustic measures according to 3 variables (disease, speech severity, and dysarthria type). Method: Speech recordings from 107 speakers with…

  15. Erythroblast cell expansion as a marker for disease severity in β

    African Journals Online (AJOL)

    Determination of the state of presentation of the disease (mild, moderate or severe) is based upon a number of clinical and hematological parameters and currently, there is no accurate predictive methodology to gauge the final severity of the disease in a particular patient. While erythropoiesis, the process generating red ...

  16. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

    DEFF Research Database (Denmark)

    Aziz, N A; Jurgens, C K; Landwehrmeyer, G B

    2009-01-01

    OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using...... with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal...

  17. The undesirable effects of neuromuscular blocking drugs

    DEFF Research Database (Denmark)

    Claudius, C; Garvey, L H; Viby-Mogensen, J

    2009-01-01

    Neuromuscular blocking drugs are designed to bind to the nicotinic receptor at the neuromuscular junction. However, they also interact with other acetylcholine receptors in the body. Binding to these receptors causes adverse effects that vary with the specificity for the cholinergic receptor...... in question. Moreover, all neuromuscular blocking drugs may cause hypersensitivity reactions. Often the symptoms are mild and self-limiting but massive histamine release can cause systematic reactions with circulatory and respiratory symptoms and signs. At the end of anaesthesia, no residual effect...... of a neuromuscular blocking drug should be present. However, the huge variability in response to neuromuscular blocking drugs makes it impossible to predict which patient will suffer postoperative residual curarization. This article discusses the undesirable effects of the currently available neuromuscular blocking...

  18. Sever's Disease

    Science.gov (United States)

    ... that bad, to help reduce swelling use an elastic wrap or compression stocking that is designed to ... proper shoes. Good quality, well-fitting shoes with shock-absorbent (padded) soles help to reduce pressure on ...

  19. Discussion on calculation of disease severity index values from scales with unequal intervals

    Science.gov (United States)

    When estimating severity of disease, a disease interval (or category) scale comprises a number of categories of known numeric values – with plant disease this is generally the percent area with symptoms (e.g., the Horsfall-Barratt (H-B) scale). Studies in plant pathology and plant breeding often use...

  20. Severe fatigue is highly prevalent in ALL rheumatic diseases : an international study

    NARCIS (Netherlands)

    Geenen, R.; Overman, C.L.; Da Silva, J.A.P.; Kool, M.B.

    Background Fatigue is a common, disabling, and difficult to manage problem in rheumatic diseases. Prevalence estimates of fatigue within various rheumatic disease groups vary considerably. Data on the relative prevalence of severe fatigue across multiple rheumatic diseases using a similar instrument

  1. Fecal Calprotectin during Pregnancy in Women with Moderate-Severe Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Kammerlander, Heidi; Nielsen, Jan; Kjeldsen, Jens

    2018-01-01

    Background Fecal calprotectin (FC) is a biomarker used for assessing disease activity among IBD patients. Sparse knowledge exists as to whether FC correlates with clinical disease activity during pregnancy. Our aim was to assess FC and selected biomarkers in women with moderate-severe IBD...... and correlate them with clinical disease activity scores in pregnant women. Methods We identified a nationwide cohort of 219 singleton pregnancies in women with moderate-severe disease (all treated with anti-tumor recrosis factor-α [anti-TNF-α] therapy during pregnancy), and we reviewed the medical records....../kg in women with clinically inactive, mild, and moderate-severe disease activity, respectively, and were significantly higher among the women with clinical disease activity. ROC curves for disease activity were computed according to the preconception period: 0.81 (95% confidence interval [CI], 0...

  2. Muscle Expression of SOD1G93A Triggers the Dismantlement of Neuromuscular Junction via PKC-Theta.

    Science.gov (United States)

    Dobrowolny, Gabriella; Martini, Martina; Scicchitano, Bianca Maria; Romanello, Vanina; Boncompagni, Simona; Nicoletti, Carmine; Pietrangelo, Laura; De Panfilis, Simone; Catizone, Angela; Bouchè, Marina; Sandri, Marco; Rudolf, Rüdiger; Protasi, Feliciano; Musarò, Antonio

    2018-04-20

    Neuromuscular junction (NMJ) represents the morphofunctional interface between muscle and nerve. Several chronic pathologies such as aging and neurodegenerative diseases, including muscular dystrophy and amyotrophic lateral sclerosis, display altered NMJ and functional denervation. However, the triggers and the molecular mechanisms underlying the dismantlement of NMJ remain unclear. Here we provide evidence that perturbation in redox signaling cascades, induced by muscle-specific accumulation of mutant SOD1 G93A in transgenic MLC/SOD1 G93A mice, is causally linked to morphological alterations of the neuromuscular presynaptic terminals, high turnover rate of acetylcholine receptor, and NMJ dismantlement. The analysis of potential molecular mechanisms that mediate the toxic activity of SOD1 G93A revealed a causal link between protein kinase Cθ (PKCθ) activation and NMJ disintegration. The study discloses the molecular mechanism that triggers functional denervation associated with the toxic activity of muscle SOD1 G93A expression and suggests the possibility of developing a new strategy to counteract age- and pathology-associated denervation based on pharmacological inhibition of PKCθ activity. Collectively, these data indicate that muscle-specific accumulation of oxidative damage can affect neuromuscular communication and induce NMJ dismantlement through a PKCθ-dependent mechanism. Antioxid. Redox Signal. 28, 1105-1119.

  3. Pumpkin powdery mildew disease severity influences the fungal diversity of the phyllosphere.

    Science.gov (United States)

    Zhang, Zhuo; Luo, Luyun; Tan, Xinqiu; Kong, Xiao; Yang, Jianguo; Wang, Duanhua; Zhang, Deyong; Jin, Decai; Liu, Yong

    2018-01-01

    Phyllosphere microbiota play a crucial role in plant-environment interactions and their microbial community and function are influenced by biotic and abiotic factors. However, there is little research on how pathogens affect the microbial community of phyllosphere fungi. In this study, we collected 16 pumpkin ( Cucurbita moschata ) leaf samples which exhibited powdery mildew disease, with a severity ranging from L1 (least severe) to L4 (most severe). The fungal community structure and diversity was examined by Illumina MiSeq sequencing of the internal transcribed spacer (ITS) region of ribosomal RNA genes. The results showed that the fungal communities were dominated by members of the Basidiomycota and Ascomycota. The Podosphaera was the most dominant genus on these infected leaves, which was the key pathogen responsible for the pumpkin powdery mildew. The abundance of Ascomycota and Podosphaera increased as disease severity increased from L1 to L4, and was significantly higher at disease severity L4 ( P powdery mildew disease severity.

  4. Automatic Image-Based Plant Disease Severity Estimation Using Deep Learning

    Directory of Open Access Journals (Sweden)

    Guan Wang

    2017-01-01

    Full Text Available Automatic and accurate estimation of disease severity is essential for food security, disease management, and yield loss prediction. Deep learning, the latest breakthrough in computer vision, is promising for fine-grained disease severity classification, as the method avoids the labor-intensive feature engineering and threshold-based segmentation. Using the apple black rot images in the PlantVillage dataset, which are further annotated by botanists with four severity stages as ground truth, a series of deep convolutional neural networks are trained to diagnose the severity of the disease. The performances of shallow networks trained from scratch and deep models fine-tuned by transfer learning are evaluated systemically in this paper. The best model is the deep VGG16 model trained with transfer learning, which yields an overall accuracy of 90.4% on the hold-out test set. The proposed deep learning model may have great potential in disease control for modern agriculture.

  5. Automatic Image-Based Plant Disease Severity Estimation Using Deep Learning.

    Science.gov (United States)

    Wang, Guan; Sun, Yu; Wang, Jianxin

    2017-01-01

    Automatic and accurate estimation of disease severity is essential for food security, disease management, and yield loss prediction. Deep learning, the latest breakthrough in computer vision, is promising for fine-grained disease severity classification, as the method avoids the labor-intensive feature engineering and threshold-based segmentation. Using the apple black rot images in the PlantVillage dataset, which are further annotated by botanists with four severity stages as ground truth, a series of deep convolutional neural networks are trained to diagnose the severity of the disease. The performances of shallow networks trained from scratch and deep models fine-tuned by transfer learning are evaluated systemically in this paper. The best model is the deep VGG16 model trained with transfer learning, which yields an overall accuracy of 90.4% on the hold-out test set. The proposed deep learning model may have great potential in disease control for modern agriculture.

  6. Prophylaxis escalation in severe von Willebrand disease: A prospective study from the von Willebrand Disease Prophylaxis Network

    NARCIS (Netherlands)

    T.C. Abshire (Thomas Calvin); J. Cox-Gill; C.L. Kempton; F.W.G. Leebeek (Frank); M. Carcao (M.); P. Kouides (P.); S. Donfield (S.); E. Berntorp

    2015-01-01

    textabstractBackground: Treatment of mucosal bleeding (epistaxis, gastrointestinal bleeding, and menorrhagia) and joint bleeding remains problematic in clinically severe von Willebrand disease (VWD). Patients are often unresponsive to treatment (e.g. desmopressin or antifibrinolytic therapy) and may

  7. Severe ipsilateral carotid stenosis and middle cerebral artery disease in lacunar ischaemic stroke: innocent bystanders?

    Science.gov (United States)

    Mead, G E; Lewis, S C; Wardlaw, J M; Dennis, M S; Warlow, C P

    2002-03-01

    Lacunar infarcts are thought to be mostly due to intracranial small vessel disease. Therefore, when a stroke patient with a relevant lacunar infarct does have severe ipsilateral internal carotid artery (ICA) or middle cerebral artery (MCA) disease, it is unclear whether the arterial disease is causative or coincidental. If causative, we would expect ICA/MCA disease to be more severe on the symptomatic side than on the asymptomatic side. Therefore, our aim was to compare the severity of ipsilateral with contralateral ICA and MCA disease in patients with lacunar ischaemic stroke. We studied 259 inpatients and outpatients with a recent lacunar ischaemic stroke and no other prior stroke. We used carotid Duplex ultrasound and transcranial Doppler (TCD) ultrasound to identify ICA and MCA disease, and compared our results with previously published data. In our study, there was no difference between the severity of ipsilateral and contralateral ICA stenosis within individuals (median difference 0%, Wilcoxon paired data p=0.24, comparing severity of ipsilateral and contralateral stenosis). The overall prevalence of severe ipsilateral stenosis was 5%, and the prevalence of severe contralateral stenosis was 4% (OR 1.6, 95% CI 0.6, 4.8). There was no difference in the prevalence of ipsilateral and contralateral MCA disease. A systematic review of the other available studies strengthened this conclusion. Carotid stenosis in patients with a lacunar ischaemic stroke may be coincidental. Further studies are required to elucidate the causes of lacunar stroke, and to evaluate the role of carotid endarterectomy.

  8. Identification and Simulation as Tools for Measurement of Neuromuscular Properties

    National Research Council Canada - National Science Library

    Kearney, R

    2001-01-01

    Quantitative, objective methods for the evaluation of neuromuscular properties are required for the diagnosis of neuromuscular disorders and the evaluation of the effectiveness of treatment and rehabilitation...

  9. Minireview: Clinical severity in sickle cell disease: the challenges of definition and prognostication.

    Science.gov (United States)

    Quinn, Charles T

    2016-04-01

    Sickle cell disease (SCD) is a monogenic, yet highly phenotypically variable disease with multisystem pathology. This manuscript provides an overview of many of the known determinants, modifiers, and correlates of disease severity in SCD. Despite this wealth of data, modeling the variable and multisystem pathology of SCD continues to be difficult. The current status of prediction of specific adverse outcomes and global disease severity in SCD is also reviewed, highlighting recent successes and ongoing challenges. © 2016 by the Society for Experimental Biology and Medicine.

  10. The Rendu-Osler-Weber Disease Revealed by a Refractory Hypoxemia and Severe Cerebral Fat Embolism

    Directory of Open Access Journals (Sweden)

    Leonel Barreto

    2013-01-01

    Full Text Available The Rendu-Osler-Weber disease is a genetic disease which may lead to severe hemorrhage and less frequently to severe organ dysfunction. We report the case of a 22-year-old patient with no personal medical history who was involved in a motorcycle accident and exhibited severe complications related to large arteriovenous pulmonary shunts during his ICU stay. The patient developed an unexplained severe hypoxemia which was attributed to several arteriovenous shunts of the pulmonary vasculature by a contrast study during a transesophageal echocardiographic examination. The course was subsequently complicated by a prolonged coma associated with hemiplegia which was attributed to a massive paradoxical fat embolism in the setting of an untreated femoral fracture. In addition to hemorrhagic complications which may lead to intractable shock, arteriovenous malformations associated with the Rendu-Osler-Weber disease may involve the pulmonary vasculature and result in unexpected complications, such as hypoxemia or severe cerebral fat embolism in high-risk patients.

  11. Effect of pancreatic kallikrein combined with magnesium sulfate therapy on disease severity of patients with severe preeclampsia

    Directory of Open Access Journals (Sweden)

    Yi Yang

    2016-10-01

    Full Text Available Objective: To study the clinical effect of pancreatic kallikrein combined with magnesium sulfate therapy on severe preeclampsia. Methods: A total of 47 patients with severe preeclampsia treated in our hospital from May 2013 to October 2015 were retrospectively analyzed, patients who received pancreatic kallikrein combined with magnesium sulfate therapy were selected as observation group, patients who received magnesium sulfate therapy were selected as control group, and then blood pressure level, renal function, uterine artery and umbilical artery blood flow state, and hypoxia indexes in serum and placenta were compared between two groups. Results: After treatment, systolic pressure and diastolic pressure levels as well as serum CysC level and 24 h urine protein level of observation group were significantly lower than those of control group, the uterine artery and umbilical artery S/ D and PI were significantly lower than those of control group, PIGF and NO levels in serum as well as Xiap and Survivin levels in placenta were significantly higher than those of control group, and sVEGFR1 level in serum as well as Caspase-3 and Caspase-7 levels in placenta was significantly lower than those of control group. Conclusions: Pancreatic kallikrein combined with magnesium sulfate therapy can alleviate the disease severity, lower blood pressure and vascular resistance, and improve renal function and the apoptosis caused by placental hypoxia in patients with severe preeclampsia.

  12. Correlation of Deviance in Arterial Oxygenation with Severity of Chronic Liver Disease

    International Nuclear Information System (INIS)

    Shaukat, A. A.; Zuhaid, M.

    2016-01-01

    Background: Hepatitis B and C related chronic liver diseases have led to development of a serious threat to the people of South Asia. The main aim of this study was to evaluate the correlation of magnitude of arterial deoxygention to the severity of liver disease. Methods: It was a hospital based cross sectional descriptive study, carried out in the Medical Department of Khyber Teaching Hospital Peshawar. All in all 115 patients were assessed for the severity of the liver diseases and were correlated with arterial deoxygenation using linear regression models. Results: Male to female ratio was 1.5:1. Males infected with hepatitis B, hepatitis C and both were 9, 60 and 1, while females suffered from hepatitis B, Hepatitis C and both were 2, 42 and 1 respectively. The linear relationship between A-a DO2 with severity of liver disease showed positive correlation while PO2 showed negative correlation with severity of liver disease. Conclusion: There was a positive correlation between A-a DO2 and severity of liver diseases while PO2 and severity of liver diseases showed negative correlation. (author)

  13. Pulmonary MR imaging with ultra-short TEs: Utility for disease severity assessment of connective tissue disease patients

    International Nuclear Information System (INIS)

    Ohno, Yoshiharu; Nishio, Mizuho; Koyama, Hisanobu; Takenaka, Daisuke; Takahashi, Masaya; Yoshikawa, Takeshi; Matsumoto, Sumiaki; Obara, Makoto; Cauteren, Marc van; Sugimura, Kazuro

    2013-01-01

    Purpose: To evaluate the utility of pulmonary magnetic resonance (MR) imaging with ultra-short echo times (UTEs) at a 3.0 T MR system for pulmonary functional loss and disease severity assessments of connective tissue disease (CTD) patients with interstitial lung disease (ILD). Materials and methods: This prospective study was approved by the institutional review board, and written informed consent was obtained from 18 CTD patients (eight men and ten women) and eight normal subjects with suspected chest disease (three men and five women). All subjects underwent thin-section MDCT, pulmonary MR imaging with UTEs, pulmonary function test and serum KL-6. Regional T2* maps were generated from each MR data set, and mean T2* values were determined from ROI measurements. From each thin-section MDCT data set, CT-based disease severity was evaluated with a visual scoring system. Mean T2* values for normal and CTD subjects were statistically compared by using Student's t-test. To assess capability for pulmonary functional loss and disease severity assessments, mean T2* values were statistically correlated with pulmonary functional parameters, serum KL-6 and CT-based disease severity. Results: Mean T2* values for normal and CTD subjects were significantly different (p = 0.0019) and showed significant correlations with %VC, %DL CO , serum KL-6 and CT-based disease severity of CTD patients (p < 0.05). Conclusion: Pulmonary MR imaging with UTEs is useful for pulmonary functional loss and disease severity assessments of CTD patients with ILD

  14. Pulmonary MR imaging with ultra-short TEs: Utility for disease severity assessment of connective tissue disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Ohno, Yoshiharu, E-mail: yosirad@kobe-u.ac.jp [Advanced Biomedical Imaging Research Center, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Division of Functional and Diagnostic Imaging Research, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Nishio, Mizuho [Division of Functional and Diagnostic Imaging Research, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Koyama, Hisanobu [Division of Radiology, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Takenaka, Daisuke [Division of Radiology, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Department of Radiology, Hyogo Cancer Center, Akashi, Hyogo (Japan); Takahashi, Masaya [Advanced Imaging Research Center, Department of Radiology, University of Texas Southwestern Medical Center, Houston, TX (United States); Yoshikawa, Takeshi; Matsumoto, Sumiaki [Advanced Biomedical Imaging Research Center, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Division of Functional and Diagnostic Imaging Research, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Obara, Makoto; Cauteren, Marc van [Philips Electronics Japan, Tokyo (Japan); Sugimura, Kazuro [Division of Radiology, Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan)

    2013-08-15

    Purpose: To evaluate the utility of pulmonary magnetic resonance (MR) imaging with ultra-short echo times (UTEs) at a 3.0 T MR system for pulmonary functional loss and disease severity assessments of connective tissue disease (CTD) patients with interstitial lung disease (ILD). Materials and methods: This prospective study was approved by the institutional review board, and written informed consent was obtained from 18 CTD patients (eight men and ten women) and eight normal subjects with suspected chest disease (three men and five women). All subjects underwent thin-section MDCT, pulmonary MR imaging with UTEs, pulmonary function test and serum KL-6. Regional T2* maps were generated from each MR data set, and mean T2* values were determined from ROI measurements. From each thin-section MDCT data set, CT-based disease severity was evaluated with a visual scoring system. Mean T2* values for normal and CTD subjects were statistically compared by using Student's t-test. To assess capability for pulmonary functional loss and disease severity assessments, mean T2* values were statistically correlated with pulmonary functional parameters, serum KL-6 and CT-based disease severity. Results: Mean T2* values for normal and CTD subjects were significantly different (p = 0.0019) and showed significant correlations with %VC, %DL{sub CO}, serum KL-6 and CT-based disease severity of CTD patients (p < 0.05). Conclusion: Pulmonary MR imaging with UTEs is useful for pulmonary functional loss and disease severity assessments of CTD patients with ILD.

  15. Neuromuscular Control and Coordination during Cycling

    Science.gov (United States)

    Li, Li

    2004-01-01

    The neuromuscular control aspect of cycling has been investigated through the effects of modifying posture and cadence. These studies show that changing posture has a more profound influence on neuromuscular coordination than does changing slope. Most of the changes with standing posture occur late in the downstroke: increased ankle and knee joint…

  16. Kinship and interaction in neuromuscular pharmacology

    NARCIS (Netherlands)

    Schiere, Sjouke

    2006-01-01

    The background of this thesis is presented in the introductory chapters and stafts with a brief history of neuromuscular relaxants. It is followed by a short description of the neuromuscular physiology and pharmacology in chapters 2 and 3, respectively. In chapter 4 the aim of the thesis is

  17. Ancillary testing, diagnostic/classification criteria and severity grading in Behçet disease.

    Science.gov (United States)

    Okada, Annabelle A; Stanford, Miles; Tabbara, Khalid

    2012-12-01

    Since there is no pathognomonic clinical sign or laboratory test to distinguish Behçet disease from other uveitic entities, the diagnosis must be made based on characteristic ocular and systemic findings in the absence of evidence of other disease that can explain the findings. Ancillary tests, including ocular and brain imaging studies, are used to assess the severity of intraocular inflammation and systemic manifestations of Behçet disease, to identify latent infections and other medical conditions that might worsen with systemic treatment, and to monitor for adverse effects of drugs used. There are two diagnostic or classification criteria in general use by the uveitis community, one from Japan and one from an international group; both rely on a minimum number and/or combination of clinical findings to identify Behçet disease. Finally, several grading schemes have been proposed to assess severity of ocular disease and response to treatment.

  18. Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

    NARCIS (Netherlands)

    Bandsma, R. H. J.; Smit, G. P. A.; Reijngoud, D. -J.; Kuipers, F.

    2009-01-01

    Glycogen storage disease type Ia (GSD Ia) is characterized by severe hypercholesterolaemia and hypertriglyceridaemia. Little is known about the aetiology of the hyperlipidaemia in GSD Ia. Adipokines play an important regulatory role in lipid metabolism. We investigated whether adipokine

  19. Impact of smoking on disease severity in patients with plaque type psoriasis

    Directory of Open Access Journals (Sweden)

    Nuriye Kayıran

    2015-12-01

    Full Text Available Background and Design: Psoriasis is a chronic enflammatory systemic disease involving skin, scalp, nails and joints and is characterized by remission and activation periods. Although the etiopathogenesis of psoriasis has not been fully elucidated, many genetic and environmental factors are believed to have a role in the development of the disease. Obesity, smoking, family history of psoriasis, repetitive physical traumas and stress are the factors thought to affect the severity and progress of the disease. In this study, we aimed to investigate the effects of smoking on the clinical severity of psoriasis in patients with chronic plaque psoriasis. Materials and Methods: Three hundred outpatients with chronic plaque-type psoriasis were enrolled in the study. Data on age, gender, family history, smoking history, educational status, history of chronic illness, and psoriasis area severity index (PASI scores were recorded for each patient. The effects of these factors on PASI were evaluated. Results: Current smokers, never smokers and former smokers were compared in terms of disease severity. The median PASI values of current smokers and never smokers were compared. The mean PASI value was statistically significantly higher in smokers (p=0.049. In multiple logistic regression analysis, it was detected that the risk of moderate and severe disease increased by male sex 2 times, by family history 2.3 times, and by smoking period above 20 years, 10 times. In smokers of more than 1 pack a day, this risk further increased. Conclusion: On the basis of these data, it may be concluded that smoking affects the severity of disease significantly. In addition to amount of daily cigarette consumption, smoking period was shown to have an effect on the severity of disease. Elimination of risk factors such as smoking, which appears to increase the severity of diseases, may be helpful in the management of psoriasis.

  20. Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Sílvia Bacalhau

    2011-01-01

    Full Text Available In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID who developed disseminated BCG disease, highlighting the specific strategies adopted.

  1. Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

    OpenAIRE

    Bacalhau, S; Freitas, C; Valente, R; Barata, D; Neves, C; Schäfer, K; Lubatschofski, A; Schulz, A; Farela Neves, J

    2011-01-01

    In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe Mycobacterium tuberculosis infection. Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. We report the case of a patient with X-linked severe combined immunodeficiency (SCID) who developed disseminated BCG disease, highligh...

  2. Graves' disease presenting as right heart failure with severe pulmonary hypertension

    OpenAIRE

    Furqan Mohd Akram Khan; Anannya Mukherji; Shekhar T. Nabar; Ashwini G

    2016-01-01

    We report a patient who presented to our institution with clinical features of right sided heart failure and hyperthyroidism. Diagnosis of grave's disease induced reversible severe pulmonary hypertension leading to severe tricuspid regurgitation and right sided heart failure was made after all the common causes were ruled out using the biochemical and radiological investigations and review of literature. Graves disease is a common cause hyperthyroidism, is an immune system disorder that resul...

  3. Effects of a multimodal exercise program on the functional capacity of Parkinson's disease patients considering disease severity and gender

    Directory of Open Access Journals (Sweden)

    Diego Orcioli-Silva

    2014-03-01

    Full Text Available The purpose of this study was to investigate the effects of a multimodal exercise program (MEP on the functional capacity of patients with Parkinson's disease (PD according to disease severity and gender. Fourteen patients with PD participated in the study and were distributed into groups according to 1 stage of disease and 2 gender. Functional capacity was evaluated before and after 6 months of intervention. The overall PD patient group improved their coordination and strength. Men and women improved in strength performance after exercise. Men also improved on coordination. For severity of disease, the unilateral group improved in strength, while the bilateral group improved in strength, balance, coordination and the UPDRS-functional score. In conclusion, a MEP is efficient in improving components of functional capacity in patients with PD, especially in strength. Gender may be considered in the exercise program. Individuals in the bilateral disease group appeared to benefit more from exercise.

  4. Influenza and other respiratory viruses: standardizing disease severity in surveillance and clinical trials.

    Science.gov (United States)

    Rath, Barbara; Conrad, Tim; Myles, Puja; Alchikh, Maren; Ma, Xiaolin; Hoppe, Christian; Tief, Franziska; Chen, Xi; Obermeier, Patrick; Kisler, Bron; Schweiger, Brunhilde

    2017-06-01

    Influenza-Like Illness is a leading cause of hospitalization in children. Disease burden due to influenza and other respiratory viral infections is reported on a population level, but clinical scores measuring individual changes in disease severity are urgently needed. Areas covered: We present a composite clinical score allowing individual patient data analyses of disease severity based on systematic literature review and WHO-criteria for uncomplicated and complicated disease. The 22-item ViVI Disease Severity Score showed a normal distribution in a pediatric cohort of 6073 children aged 0-18 years (mean age 3.13; S.D. 3.89; range: 0 to 18.79). Expert commentary: The ViVI Score was correlated with risk of antibiotic use as well as need for hospitalization and intensive care. The ViVI Score was used to track children with influenza, respiratory syncytial virus, human metapneumovirus, human rhinovirus, and adenovirus infections and is fully compliant with regulatory data standards. The ViVI Disease Severity Score mobile application allows physicians to measure disease severity at the point-of care thereby taking clinical trials to the next level.

  5. Evaluation of neurological complications using who warning signs for dengue disease severity

    International Nuclear Information System (INIS)

    Akmal, A.; Tauseef, A.; Akram, T.

    2015-01-01

    In 2009 a new classification of dengue was proposed by WHO Tropical Disease Research, which classifies dengue into dengue (D), dengue with warning signs (DW) and severe dengue (SD). This classification highlights the warning signs of dengue disease severity. Neurological complications are one of the most serious complications of dengue disease. This study was carried out to see association of neurological complications of dengue patients with WHO warning signs for dengue disease severity, and their outcome. Methods: It was a cross-sectional analytical study and included 180 diagnosed and registered cases of dengue hemorrhagic fever. The participants were subjected to a detailed clinical evaluation, laboratory assessment including blood counts, hematocrit, serology for dengue fever and sonography at 24 hours and 48 hours of their admission. Results: Twenty-six percent patients were suffering from neurological complications due to dengue. The warning signs for dengue disease severity like altered sensorium (85.5%, p=0.001), raised hematocrit (n=47, p=0.029), gall bladder wall thickening, pleural effusion and ascites on sonographic report (n=47, p=0.024), were strongly associated with the neurological complications. Conclusion: Our study reveals significant association of WHO warning signs for dengue disease severity with neurological complications of dengue disease. (author)

  6. Inhibition of stress-activated MAP kinases induces clinical improvement in moderate to severe Crohn's disease

    NARCIS (Netherlands)

    Hommes, Daan; van den Blink, Bernt; Plasse, Terry; Bartelsman, Joep; Xu, Cuiping; Macpherson, Bret; Tytgat, Guido; Peppelenbosch, Mailkel; van Deventer, Sander

    2002-01-01

    Background & Aims: We investigated if inhibition of mitogen-activated protein kinases (MAPKs) was beneficial in Crohn's disease. Methods: Inhibition of JNK and p38 MAPK activation with CNI-1493, a guanylhydrazone, was tested in vitro. Twelve patients with severe Crohn's disease (mean baseline, CDAI

  7. Neurocognitive Deficits in Children With Sickle Cell Disease Are Associated With the Severity of Anemia

    NARCIS (Netherlands)

    Hijmans, Channa T.; Grootenhuis, Martha A.; Oosterlaan, Jaap; Heijboer, Harriët; Peters, Marjolein; Fijnvandraat, Karin

    2011-01-01

    Background. Although neurocognitive deficits in children with sickle cell disease (SCD) have been well documented, the etiology of these deficits has not been completely clarified. The aim of this study was to investigate the association of laboratory markers of disease severity and radiological

  8. Is sweat chloride predictive of severity of cystic fibrosis lung disease assessed by chest computed tomography?

    NARCIS (Netherlands)

    Caudri, Daan; Zitter, David; Bronsveld, Inez; Tiddens, Harm

    BACKGROUND: Cystic Fibrosis (CF) lung disease is characterized by a marked heterogeneity. Sweat chloride-level is a functional marker of the CF Transmembrane Regulator (CFTR) protein and could be an important predictor of later disease severity. METHODS: In this retrospective analysis children from

  9. Parkinson's disease severity levels and MDS-Unified Parkinson's Disease Rating Scale.

    Science.gov (United States)

    Martínez-Martín, Pablo; Rodríguez-Blázquez, Carmen; Mario Alvarez; Arakaki, Tomoko; Arillo, Víctor Campos; Chaná, Pedro; Fernández, William; Garretto, Nélida; Martínez-Castrillo, Juan Carlos; Rodríguez-Violante, Mayela; Serrano-Dueñas, Marcos; Ballesteros, Diego; Rojo-Abuin, Jose Manuel; Chaudhuri, Kallol Ray; Merello, Marcelo

    2015-01-01

    Severity of PD is usually assessed by means of the motor and disability-based Hoehn and Yahr staging (HY), or clinician and patient global perceptions. Scores of more detailed assessments, as the MDS-UPDRS, have not been translated to a grading that allows assignment of score sections to severity levels. The objective of the present study is to determine cut-off points for PD severity levels based on the MDS-UPDRS. International, observational study. Applied assessments were: HY, MDS-UPDRS, Clinical Impression for Severity Index, and Clinical and Patient Global Impression of Severity. The coincidence in severity level (mild, moderate, severe) of at least two clinical classifications plus the patient's gradation was considered "the criterion of severity". Cut-off values for each MDS-UPDRS subscale was determined by triangulation of: 1) percentile 90 of the subscale total score; 2) receiver operating characteristic (ROC) analysis; and 3) ordinal logistic regression (OLR) model. Sample was composed of 452 consecutive PD patients without dementia, 55.3% males, age 65.1 ± 10.7 years and PD duration 8.7 ± 6.3 years. All HY stages were represented. The "criterion", classified 275 patients (60.8% of the sample) as: mild PD, 149 (54.2%); moderate, 82 (29.8%); and severe, 44 (16%). The following MDS-UPDRS cut-off points between mild/moderate and moderate/severe levels were found: Part 1: 10/11 and 21/22; Part 2: 12/13 and 29/30; Part 3: 32/33 and 58/59; and Part 4: 4/5 and 12/13. Cut-off points to classify PD patients as mild, moderate, or severe on the basis of their MDS-UPDRS scores are proposed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. 31P-MR-spectroscopy of the skeletal muscles under load: demonstration of normal energy metabolism compared to different neuromuscular diseases

    International Nuclear Information System (INIS)

    Block, W.; Traeber, F.; Kuhl, C.K.; Keller, E.; Rink, H.; Schild, H.H.; Karitzky, J.

    1998-01-01

    Purpose: 31 P-MR spectroscopy of skeletal muscle under ecercise was used to obtain the range of normal variation and comparison was made for different neuromascular diseases. Methods: 41 examinations of 24 volunteers and 41 investigations in 35 patients were performed on 1.5 T MR systems (Gyroscan S15 und S15/ACSII, Philips). Localised 31 P-MR spectra of the calf muscle were obtained in time series with a resolution of 12 s. Results: Two types of muscle energy metabolism were identified from the pattern of spectroscopic time course in volunteers: While the first group was characterised by a remarkable decline to lower pH values during exercise, the second group showed only small pH shifts (minimum pH: 6.48±0.13 vs 6.87±0.07, p -6 ) although comparable workload conditions were maintained. The pH-values correlated well with blood lactate analysis. Patients with metabolic disorders and chronic fatigue syndrome (CFS) showed decreased resting values of PCr/(PCr+P i ) and increased pH levels during exercise. PCr recovery was significantly delayed (0.31 vs 0.65 min -1 , p i ), altered pH time courses, and decreased PCr recovery seem to be helpful indicators for diagnosis of metabolic muscle disorders. (orig./MG) [de

  11. Impact of severity of congenital heart diseases on university graduation rate among male patients.

    Science.gov (United States)

    Özcan, Emin Evren; Küçük, Alaattin

    2012-04-01

    This study examines university graduation rates among individuals with congenital heart disease (CHD) in comparison to their healthy peers. The effect of disease severity, type of surgery, and timing of surgery on graduation rate was also evaluated. One hundred forty-five male patients with CHD at military age were enrolled in the study between the dates of January 2005 and May 2007. Severity of disease was operationalised in term of initial diagnosis (According to classification of 32th ACC Bethesta Conference Task Force 1). University graduation rates of among two groups of CHD patients (mild disease (group 1) or moderate to severe disease (group 2)) are compared to each other and to healthy peers. Patients with CHD have reduced rates of participation in higher education compared with healthy individuals (13.1% vs 20.7%, p=0.01). Furthermore, this negative effect on education participation rate is independent of the severity of disease (group 1, 16.4%, p=0.01; group 2, 9.7%, pgraduation rate was relatively higher in patients with mild disease severity, no significant difference was found between the two patient groups (p=0.23). Having an operation does not effect graduation rate (p=0.58), however greater age at the time of operation increases the likelihood of graduation (p=0.02). Being born with CHD significantly reduces the chance of completing higher education. This negative impact on university graduation rate is independent of the severity of the disease. No negative effects of disease related surgery or subsequent corrective surgery on education were observed. Patients who were operated on later in life were more likely to complete university education. Mean operation age of this group corresponds to the typical age during the last year of elementary school in Turkey.

  12. Severity of Anxiety Disorders in Patients with Chronic Obstructive Pulmonary Disease

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    Mitra Safa

    2015-10-01

    Full Text Available Objective: Patients with chronic physical diseases sometimes show increased loss of function; such patients need more care. Anxiety is a well-known symptom that is prevalent among chronic obstructive pulmonary disease patients that can prolong and increase the risk of hospitalization. The purpose of this study was to evaluate the severity of anxiety in the mentioned patients and to examine the presence of symptoms and appropriate treatment strategies to understand the role of psychological functions in physical patients.Methods: This was a cross sectional study conducted in Masih Daneshvari Hospital. One hundred forty- three patients entered into the project by accessible method and signed the informed consent; they filled demographic information and Hamilton anxiety and depression questionnaires. Data were analyzed by SPSS-16 .Results: Of the participants, 68% were above 60 years of age; 78% were male; 89% were married; and 38% were self-employed. Also, among the participants, 51% were illiterate; 72% had history of smoking; 46% had history of substance abuse; and 49% had moderate to severe anxiety disorder. Moreover, of the patients with severe anxiety, 41.3% had severe muscle spasms; and severe sleeplessness was found in 38.5% of those with severe anxiety disorder. Severe anxiety related symptoms were found in 20.3% of the patients with severe anxiety disorder. Depressed mood was found in 27.3% of the patients with severe anxiety disorder. Severe physical and muscular signs were found in 35.7% of those with severe anxiety disorder .Conclusion: According to our findings, many chronic diseases such as chronic obstructive pulmonary disease may contain anxiety and depression which result in vulnerability. Therefore, evaluation of anxiety in such patients is of importance for alleviating the disease.

  13. Aberrant monocyte responses predict and characterize dengue virus infection in individuals with severe disease.

    Science.gov (United States)

    Yong, Yean K; Tan, Hong Y; Jen, Soe Hui; Shankar, Esaki M; Natkunam, Santha K; Sathar, Jameela; Manikam, Rishya; Sekaran, Shamala D

    2017-05-31

    Currently, several assays can diagnose acute dengue infection. However, none of these assays can predict the severity of the disease. Biomarkers that predicts the likelihood that a dengue patient will develop a severe form of the disease could permit more efficient patient triage and allows better supportive care for the individual in need, especially during dengue outbreaks. We measured 20 plasma markers i.e. IFN-γ, IL-10, granzyme-B, CX3CL1, IP-10, RANTES, CXCL8, CXCL6, VCAM, ICAM, VEGF, HGF, sCD25, IL-18, LBP, sCD14, sCD163, MIF, MCP-1 and MIP-1β in 141 dengue patients in over 230 specimens and correlate the levels of these plasma markers with the development of dengue without warning signs (DWS-), dengue with warning signs (DWS+) and severe dengue (SD). Our results show that the elevation of plasma levels of IL-18 at both febrile and defervescence phase was significantly associated with DWS+ and SD; whilst increase of sCD14 and LBP at febrile phase were associated with severity of dengue disease. By using receiver operating characteristic (ROC) analysis, the IL-18, LBP and sCD14 were significantly predicted the development of more severe form of dengue disease (DWS+/SD) (AUC = 0.768, P dengue disease. Given that the elevation IL-18, LBP and sCD14 among patients with severe form of dengue disease, our findings suggest a pathogenic role for an aberrant inflammasome and monocyte activation in the development of severe form of dengue disease.

  14. Accuracy of plant specimen disease severity estimates: concepts, history, methods, ramifications and challenges for the future

    Science.gov (United States)

    Knowledge of the extent of the symptoms of a plant disease, generally referred to as severity, is key to both fundamental and applied aspects of plant pathology. Most commonly, severity is obtained visually and the accuracy of each estimate (closeness to the actual value) by individual raters is par...

  15. Amyloid Load in Fat Tissue Reflects Disease Severity and Predicts Survival in Amyloidosis

    NARCIS (Netherlands)

    Van Gameren, Ingrid I.; Hazenberg, Bouke P. C.; Bijzet, Johan; Haagsma, Elizabeth B.; Vellenga, Edo; Posthumus, Marcel D.; Jager, Pieter L.; Van Rijswijk, Martin H.

    Objective. The severity of systemic amyloidosis is thought to be related to the extent of amyloid deposition. We studied whether amyloid load in fat tissue reflects disease severity and predicts survival. Methods. We studied all consecutive patients with systemic amyloidosis seen between January

  16. Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.

    Science.gov (United States)

    van den Bergen, J C; Wokke, B H A; Hulsker, M A; Verschuuren, J J G M; Aartsma-Rus, A M

    2015-03-01

    Becker muscular dystrophy is characterized by a variable disease course. Many factors have been implicated to contribute to this diversity, among which the expression of several components of the dystrophin associated glycoprotein complex. Together with dystrophin, most of these proteins anchor the muscle fiber cytoskeleton to the extracellular matrix, thus protecting the muscle from contraction induced injury, while nNOS is primarily involved in inducing vasodilation during muscle contraction, enabling adequate muscle oxygenation. In the current study, we investigated the role of three components of the dystrophin associated glycoprotein complex (beta-dystroglycan, gamma-sarcoglycan and nNOS) and the dystrophin homologue utrophin on disease severity in Becker patients. Strength measurements, data about disease course and fresh muscle biopsies of the anterior tibial muscle were obtained from 24 Becker patients aged 19 to 66. The designation of Becker muscular dystrophy in this study was based on the mutation and not on the clinical severity. Contrary to previous studies, we were unable to find a relationship between expression of nNOS, beta-dystroglycan and gamma-sarcoglycan at the sarcolemma and disease severity, as measured by muscle strength in five muscle groups and age at reaching several disease milestones. Unexpectedly, we found an inverse correlation between utrophin expression at the sarcolemma and age at reaching disease milestones. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Link between sewage-derived nitrogen pollution and coral disease severity in Guam

    International Nuclear Information System (INIS)

    Redding, Jamey E.; Myers-Miller, Roxanna L.; Baker, David M.; Fogel, Marilyn; Raymundo, Laurie J.; Kim, Kiho

    2013-01-01

    Highlights: • We evaluated sources of nitrogen pollution in coastal waters of Guam. • Stable isotope analyses showed the dominance of sewage-derived nitrogen. • Nitrogen inputs correlated with coral disease severity. • Planned population increase on Guam will exacerbate impact of coral diseases. -- Abstract: The goals of this study were to evaluate the contribution of sewage-derived N to reef flat communities in Guam and to assess the impact of N inputs on coral disease. We used stable isotope analysis of macroalgae and a soft coral, sampled bimonthly, as a proxy for N dynamics, and surveyed Porites spp., a dominant coral taxon on Guam’s reefs, for white syndrome disease severity. Results showed a strong influence of sewage-derived N in nearshore waters, with δ 15 N values varying as a function of species sampled, site, and sampling date. Increases in sewage-derived N correlated significantly with increases in the severity of disease among Porites spp., with δ 15 N values accounting for more than 48% of the variation in changes in disease severity. The anticipated military realignment and related population increase in Guam are expected to lead to increased white syndrome infections and other coral diseases

  18. The disease prevalence and severity of Cercospora leaf spot in sugar beet cultivations in Kayseri

    Directory of Open Access Journals (Sweden)

    Hacer Handan ALTINOK

    2012-12-01

    Full Text Available Cercospora leaf spot disease (Cercospora beticola Sacc., is one of the most economically important fungal diseases in sugar beet growing. Under appropriate climatic conditions, the disease can reach epidemic levels. Although some fungicides exist for disease control, resistance development by pathogen against fungicides is creating difficulties. Besides, use of resistant varieties which is considered as the most efficient and environment-friendly method is adversely affected by pathogen’s ability to exhibit high genetic variations and varying resistance levels against different races of pathogen restricts the success of resistance breeding studies. In order to reveal status of this disease in Kayseri province, surveys were conducted in 2010 and 2011 in sugar beet growing areas and disease prevalence and severity were determined. Approximately, 1500 da area in 90 fields were examined and about 700 da of this area found as infected with Cercospora leaf spot disease in both years of the survey. Highest disease prevalence and severity were found as 80 % and 45 %, respectively, in Sarıoğlan district, which is followed by central district, Develi and Bünyan. Among surveyed districts, lowest prevalence and severity were detected as approx. 65 % and 35 %, respectively, in Yeşilhisar.

  19. Creutzfeldt-Jacob’s Disease Presenting with Psychiatric Symptomsand Severe Itching

    Directory of Open Access Journals (Sweden)

    Emine Rabia Koç

    2013-03-01

    Full Text Available Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disease that is characterized by the accumulation of abnormal prion-like proteins in the central nervous system. Clinical features, electroencephalography, brain magnetic resonance imaging and protein 14.3.3 is useful in diagnosis. Protein 14.3.3 may be negative in the early or late stages of the disease. Presentation with psychiatric symptoms and itching is not typical in the beginning of the disease In this paper, we present a patient who was first accepted to the pschiatry ward because of his psychiatric symtpoms and had severe itching, resistant to antihistaminic drugs

  20. Neuromuscular signs associated with acute hypophosphatemia in a dog.

    Science.gov (United States)

    Claus, Kimberly N; Day, Thomas K; Wolf, Christina

    2015-01-01

    The purpose of this report was to describe the successful recognition and management of neuromuscular dysfunction secondary to severe, acute hypophosphatemia in an adult dog with a 2 day history of vomiting, anorexia, and abdominal pain. Radiographs were suggestive of a foreign body obstruction, and surgery was recommended. Resection and anastomosis of the distal duodenum and proximal jejunum was performed. The dog recovered uneventfully, but approximately 36 hr postoperatively, he was found to have significant weakness and muscle tremors that were accompanied by hyperthermia. The only significant abnormality on a serum biochemical profile was a phosphorous level of 0.26 mmol/L. Within 6 hr of initiating phosphorous supplementation, the patient fully recovered and had no residual signs of neuromuscular dysfunction. Signs of neurologic dysfunction secondary to hypophosphatemia are commonly recognized in human patients. Reports of patients with severe muscle weakness, some of which necessitate ventilation due to weakening of muscles of respiration, are common throughout the literature. Less commonly, tremors are noted. This is the first known report of neuromuscular signs recognized and rapidly corrected in a dog. Although it is likely to be uncommon, hypophosphatemia should be recognized as a differential diagnosis in patients with tremors and/or muscle weakness.

  1. Prevalence of comorbidities according to predominant phenotype and severity of chronic obstructive pulmonary disease

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    Camiciottoli G

    2016-09-01

    Full Text Available Gianna Camiciottoli,1,2 Francesca Bigazzi,1 Chiara Magni,1 Viola Bonti,1 Stefano Diciotti,3 Maurizio Bartolucci,4 Mario Mascalchi,5 Massimo Pistolesi1 1Section of Respiratory Medicine, Department of Clinical and Experimental Medicine, 2Department of Clinical and Experimental Biomedical Sciences, University of Florence, Florence, 3Department of Electrical, Electronic, and Information Engineering “Guglielmo Marconi,” University of Bologna, Cesena, 4Department of Diagnostic Imaging, Careggi University Hospital, 5Radiodiagnostic Section, Department of Clinical and Experimental Biomedical Sciences, University of Florence, Florence, Italy Background: In addition to lung involvement, several other diseases and syndromes coexist in patients with chronic obstructive pulmonary disease (COPD. Our purpose was to investigate the prevalence of idiopathic arterial hypertension (IAH, ischemic heart disease, heart failure, peripheral vascular disease (PVD, diabetes, osteoporosis, and anxious depressive syndrome in a clinical setting of COPD outpatients whose phenotypes (predominant airway disease and predominant emphysema and severity (mild and severe diseases were determined by clinical and functional parameters. Methods: A total of 412 outpatients with COPD were assigned either a predominant airway disease or a predominant emphysema phenotype of mild or severe degree according to predictive models based on pulmonary functions (forced expiratory volume in 1 second/vital capacity; total lung capacity %; functional residual capacity %; and diffusing capacity of lung for carbon monoxide % and sputum characteristics. Comorbidities were assessed by objective medical records. Results: Eighty-four percent of patients suffered from at least one comorbidity and 75% from at least one cardiovascular comorbidity, with IAH and PVD being the most prevalent ones (62% and 28%, respectively. IAH prevailed significantly in predominant airway disease, osteoporosis prevailed

  2. Kawasaki disease in Sicily: clinical description and markers of disease severity

    OpenAIRE

    Maggio, M.; Corsello, G.; Prinzi, E.; Cimaz, R.

    2016-01-01

    Background Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods We studied the clinical data ...

  3. CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

    Science.gov (United States)

    Blaisdell, Carol J; Howard, Timothy D; Stern, Augustus; Bamford, Penelope; Bleecker, Eugene R; Stine, O Colin

    2004-01-01

    Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. PMID:15507145

  4. CLC-2 single nucleotide polymorphisms (SNPs as potential modifiers of cystic fibrosis disease severity

    Directory of Open Access Journals (Sweden)

    Bleecker Eugene R

    2004-10-01

    Full Text Available Abstract Background Cystic fibrosis (CF lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1 > 70% and Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.

  5. Quantifying the Severity of Phytophthora Root Rot Disease in Avocado Trees Using Image Analysis

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    Arachchige Surantha Ashan Salgadoe

    2018-02-01

    Full Text Available Phytophthora root rot (PRR infects the roots of avocado trees, resulting in reduced uptake of water and nutrients, canopy decline, defoliation, and, eventually, tree mortality. Typically, the severity of PRR disease (proportion of canopy decline is assessed by visually comparing the canopy health of infected trees to a standardised set of photographs and a corresponding disease rating. Although this visual method provides some indication of the spatial variability of PRR disease across orchards, the accuracy and repeatability of the ranking is influenced by the experience of the assessor, the visibility of tree canopies, and the timing of the assessment. This study evaluates two image analysis methods that may serve as surrogates to the visual assessment of canopy decline in large avocado orchards. A smartphone camera was used to collect red, green, and blue (RGB colour images of individual trees with varying degrees of canopy decline, with the digital photographs then analysed to derive a canopy porosity percentage using a combination of ‘Canny edge detection’ and ‘Otsu’s’ methods. Coinciding with the on-ground measure of canopy porosity, the canopy reflectance characteristics of the sampled trees measured by high resolution Worldview-3 (WV-3 satellite imagery was also correlated against the observed disease severity rankings. Canopy porosity values (ranging from 20–70% derived from RGB images were found to be significantly different for most disease rankings (p < 0.05 and correlated well (R2 = 0.89 with the differentiation of three disease severity levels identified to be optimal. From the WV-3 imagery, a multivariate stepwise regression of 18 structural and pigment-based vegetation indices found the simplified ratio vegetation index (SRVI to be strongly correlated (R2 = 0.96 with the disease rankings of PRR disease severity, with the differentiation of four levels of severity found to be optimal.

  6. Critical Role of Airway Macrophages in Modulating Disease Severity during Influenza Virus Infection of Mice ▿

    Science.gov (United States)

    Tate, Michelle D.; Pickett, Danielle L.; van Rooijen, Nico; Brooks, Andrew G.; Reading, Patrick C.

    2010-01-01

    Airway macrophages provide a first line of host defense against a range of airborne pathogens, including influenza virus. In this study, we show that influenza viruses differ markedly in their abilities to infect murine macrophages in vitro and that infection of macrophages is nonproductive and no infectious virus is released. Virus strain BJx109 (H3N2) infected macrophages with high efficiency and was associated with mild disease following intranasal infection of mice. In contrast, virus strain PR8 (H1N1) was poor in its ability to infect macrophages and highly virulent for mice. Depletion of airway macrophages by clodronate-loaded liposomes led to the development of severe viral pneumonia in BJx109-infected mice but did not modulate disease severity in PR8-infected mice. The severe disease observed in macrophage-depleted mice infected with BJx109 was associated with exacerbated virus replication in the airways, leading to severe airway inflammation, pulmonary edema, and vascular leakage, indicative of lung injury. Thymic atrophy, lymphopenia, and dysregulated cytokine and chemokine production were additional systemic manifestations associated with severe disease. Thus, airway macrophages play a critical role in limiting lung injury and associated disease caused by BJx109. Furthermore, the inability of PR8 to infect airway macrophages may be a critical factor contributing to its virulence for mice. PMID:20504924

  7. The Role of Celiac Disease in Severity of Liver Disorders and Effect of a Gluten Free Diet on Diseases Improvement

    Science.gov (United States)

    Rostami-Nejad, Mohammad; Haldane, Thea; AlDulaimi, David; Alavian, Seyed Moayed; Zali, Mohammad Reza; Rostami, Kamran

    2013-01-01

    Context Celiac disease (CD) is defined as a permanent intolerance to ingested gluten. The intolerance to gluten results in immune-mediated damage of small intestine mucosa manifested by villous atrophy and crypt hyperplasia. These abnormalities resolve with initiationa gluten-free diet. Evidence Acquisition PubMed, Ovid, and Google were searched for full text articles published between 1963 and 2012. The associated keywords were used, and papers described particularly the impact of celiac disease on severity of liver disorder were identified. Results Recently evidence has emerged revealingthat celiac disease not only is associated with small intestine abnormalities and malabsorption, but is also a multisystem disorder affecting other systems outside gastrointestinal tract, including musculo-skeletal, cardiovascular and nervous systems. Some correlations have been assumed between celiac and liver diseases. In particular, celiac disease is associated with changes in liver biochemistry and linked to alter the prognosis of other disorders. This review will concentrate on the effect of celiac disease and gluten-free diets on the severity of liver disorders. Conclusions Although GFD effect on the progression of CD associated liver diseases is not well defined, it seems that GFD improves liver function tests in patients with a hypertransaminasemia. PMID:24348636

  8. Impact of Hospital Variables on Case Mix Index as a Marker of Disease Severity

    Science.gov (United States)

    Mendez, Carmen M.; Harrington, Darrell W.; Christenson, Peter

    2014-01-01

    Abstract Case mix index (CMI) has become a standard indicator of hospital disease severity in the United States and internationally. However, CMI was designed to calculate hospital payments, not to track disease severity, and is highly dependent on documentation and coding accuracy. The authors evaluated whether CMI varied by characteristics affecting hospitals' disease severity (eg, trauma center or not). The authors also evaluated whether CMI was lower at public hospitals than private hospitals, given the diminished financial resources to support documentation enhancement at public hospitals. CMI data for a 14-year period from a large public database were analyzed longitudinally and cross-sectionally to define the impact of hospital variables on average CMI within and across hospital groups. Between 1996 and 2007, average CMI declined by 0.4% for public hospitals, while rising significantly for private for-profit (14%) and nonprofit (6%) hospitals. After the introduction of the Medicare Severity Diagnosis Related Group (MS-DRG) system in 2007, average CMI increased for all 3 hospital types but remained lowest in public vs. private for-profit or nonprofit hospitals (1.05 vs. 1.25 vs. 1.20; P<0.0001). By multivariate analysis, teaching hospitals, level 1 trauma centers, and larger hospitals had higher average CMI, consistent with a marker of disease severity, but only for private hospitals. Public hospitals had lower CMI across all subgroups. Although CMI had some characteristics of a disease severity marker, it was lower across all strata for public hospitals. Hence, caution is warranted when using CMI to adjust for disease severity across public vs. private hospitals. (Population Health Management 2014;17:28–34) PMID:23965045

  9. Measuring Neuromuscular Junction Functionality in the SOD1(G93A) Animal Model of Amyotrophic Lateral Sclerosis.

    Science.gov (United States)

    Rizzuto, Emanuele; Pisu, Simona; Musarò, Antonio; Del Prete, Zaccaria

    2015-09-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to motor neuron degeneration, alteration in neuromuscular junctions (NMJs), muscle atrophy, and paralysis. To investigate the NMJ functionality in ALS we tested, in vitro, two innervated muscle types excised from SOD1(G93A) transgenic mice at the end-stage of the disease: the Soleus, a postural muscle almost completely paralyzed at that stage, and the diaphragm, which, on the contrary, is functional until death. To this aim we employed an experimental protocol that combined two types of electrical stimulation: the direct stimulation and the stimulation through the nerve. The technique we applied allowed us to determine the relevance of NMJ functionality separately from muscle contractile properties in SOD1(G93A) animal model. Functional measurements revealed that the muscle contractility of transgenic diaphragms is almost unaltered in comparison to control muscles, while transgenic Soleus muscles were severely compromised. In contrast, when stimulated via the nerve, both transgenic muscle types showed a strong decrease of the contraction force, a slowing down of the kinetic parameters, as well as alterations in the neurotransmission failure parameter. All together, these results confirm a severely impaired functionality in the SOD1(G93A) neuromuscular junctions.

  10. Growth hormone and insulin-like growth factor 1 affect the severity of Graves' disease.

    Science.gov (United States)

    Di Cerbo, Alfredo; Pezzuto, Federica; Di Cerbo, Alessandro

    2017-01-01

    Graves' disease, the most common form of hyperthyroidism in iodine-replete countries, is associated with the presence of immunoglobulins G (IgGs) that are responsible for thyroid growth and hyperfunction. In this article, we report the unusual case of a patient with acromegaly and a severe form of Graves' disease. Here, we address the issue concerning the role of growth hormone (GH) and insulin-like growth factor 1 (IGF1) in influencing thyroid function. Severity of Graves' disease is exacerbated by coexistent acromegaly and both activity indexes and symptoms and signs of Graves' disease improve after the surgical remission of acromegaly. We also discuss by which signaling pathways GH and IGF1 may play an integrating role in regulating the function of the immune system in Graves' disease and synergize the stimulatory activity of Graves' IgGs. Clinical observations have demonstrated an increased prevalence of euthyroid and hyperthyroid goiters in patients with acromegaly.The coexistence of acromegaly and Graves' disease is a very unusual event, the prevalence being Graves' disease associated with acromegaly and show that surgical remission of acromegaly leads to a better control of symptoms of Graves' disease.

  11. Neuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213

    Science.gov (United States)

    Kotani, Yuri; Morito, Daisuke; Yamazaki, Satoru; Ogino, Kazutoyo; Kawakami, Koichi; Takashima, Seiji; Hirata, Hiromi; Nagata, Kazuhiro

    2015-01-01

    Mysterin (also known as RNF213) is a huge intracellular protein with two AAA+ ATPase modules and a RING finger ubiquitin ligase domain. Mysterin was originally isolated as a significant risk factor for the cryptogenic cerebrovascular disorder moyamoya disease, and was found to be involved in physiological angiogenesis in zebrafish. However, the function and the physiological significance of mysterin in other than blood vessels remain largely unknown, although mysterin is ubiquitously expressed in animal tissues. In this study, we performed antisense-mediated suppression of a mysterin orthologue in zebrafish larvae and revealed that mysterin-deficient larvae showed significant reduction in fast myofibrils and immature projection of primary motoneurons, leading to severe motor deficits. Fast muscle-specific restoration of mysterin expression cancelled these phenotypes, and interestingly both AAA+ ATPase and ubiquitin ligase activities of mysterin were indispensable for proper fast muscle formation, demonstrating an essential role of mysterin and its enzymatic activities in the neuromuscular regulation in zebrafish. PMID:26530008

  12. Polyparasitism Is Associated with Increased Disease Severity in Toxoplasma gondii-Infected Marine Sentinel Species

    Science.gov (United States)

    Gibson, Amanda K.; Raverty, Stephen; Lambourn, Dyanna M.; Huggins, Jessica; Magargal, Spencer L.; Grigg, Michael E.

    2011-01-01

    In 1995, one of the largest outbreaks of human toxoplasmosis occurred in the Pacific Northwest region of North America. Genetic typing identified a novel Toxoplasma gondii strain linked to the outbreak, in which a wide spectrum of human disease was observed. For this globally-distributed, water-borne zoonosis, strain type is one variable influencing disease, but the inability of strain type to consistently explain variations in disease severity suggests that parasite genotype alone does not determine the outcome of infection. We investigated polyparasitism (infection with multiple parasite species) as a modulator of disease severity by examining the association of concomitant infection of T. gondii and the related parasite Sarcocystis neurona with protozoal disease in wild marine mammals from the Pacific Northwest. These hosts ostensibly serve as sentinels for the detection of terrestrial parasites implicated in water-borne epidemics of humans and wildlife in this endemic region. Marine mammals (151 stranded and 10 healthy individuals) sampled over 6 years were assessed for protozoal infection using multi-locus PCR-DNA sequencing directly from host tissues. Genetic analyses uncovered a high prevalence and diversity of protozoa, with 147/161 (91%) of our sampled population infected. From 2004 to 2009, the relative frequency of S. neurona infections increased dramatically, surpassing that of T. gondii. The majority of T. gondii infections were by genotypes bearing Type I lineage alleles, though strain genotype was not associated with disease severity. Significantly, polyparasitism with S. neurona and T. gondii was common (42%) and was associated with higher mortality and more severe protozoal encephalitis. Our finding of widespread polyparasitism among marine mammals indicates pervasive contamination of waterways by zoonotic agents. Furthermore, the significant association of concomitant infection with mortality and protozoal encephalitis identifies polyparasitism as

  13. Polyparasitism is associated with increased disease severity in Toxoplasma gondii-infected marine sentinel species.

    Directory of Open Access Journals (Sweden)

    Amanda K Gibson

    2011-05-01

    Full Text Available In 1995, one of the largest outbreaks of human toxoplasmosis occurred in the Pacific Northwest region of North America. Genetic typing identified a novel Toxoplasma gondii strain linked to the outbreak, in which a wide spectrum of human disease was observed. For this globally-distributed, water-borne zoonosis, strain type is one variable influencing disease, but the inability of strain type to consistently explain variations in disease severity suggests that parasite genotype alone does not determine the outcome of infection. We investigated polyparasitism (infection with multiple parasite species as a modulator of disease severity by examining the association of concomitant infection of T. gondii and the related parasite Sarcocystis neurona with protozoal disease in wild marine mammals from the Pacific Northwest. These hosts ostensibly serve as sentinels for the detection of terrestrial parasites implicated in water-borne epidemics of humans and wildlife in this endemic region. Marine mammals (151 stranded and 10 healthy individuals sampled over 6 years were assessed for protozoal infection using multi-locus PCR-DNA sequencing directly from host tissues. Genetic analyses uncovered a high prevalence and diversity of protozoa, with 147/161 (91% of our sampled population infected. From 2004 to 2009, the relative frequency of S. neurona infections increased dramatically, surpassing that of T. gondii. The majority of T. gondii infections were by genotypes bearing Type I lineage alleles, though strain genotype was not associated with disease severity. Significantly, polyparasitism with S. neurona and T. gondii was common (42% and was associated with higher mortality and more severe protozoal encephalitis. Our finding of widespread polyparasitism among marine mammals indicates pervasive contamination of waterways by zoonotic agents. Furthermore, the significant association of concomitant infection with mortality and protozoal encephalitis identifies

  14. Correlation of Serum Levels of Vitronectin, Malondialdehyde and Hs-CRP With Disease Severity in Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Alireza Yaghoubi

    2015-09-01

    Conclusion: The association and correlation between VN, MDA and hs-CRP indicate their involvement in the atherosclerosis process that may lead to progression of CAD. Also, these findings suggested that serum levels of VN, MDA and hs-CRP can help as diagnostic and monitoring markers in CAD patients and as markers of disease severity.

  15. Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)

    NARCIS (Netherlands)

    Linthorst, Gabor E.; Folman, Claudia C.; Aerts, Johannes M. F. G.; Hollak, Carla E. M.

    2003-01-01

    Blood groups B and P1 are substrates for the lysosomal enzyme alpha-galactosidase A. Therefore, patients with alpha-Gal A deficiency and blood groups B or P1 may exhibit more severe disease. In 48 Fabry patients distribution of blood group was not different from that in the Dutch population. No

  16. What predicts depression in cardiac patients: Sociodemographic factors, disease severity or theoretical vulnerabilities?

    OpenAIRE

    Doyle, Frank; McGee, Hannah; Conroy, Ronán; Delaney, Mary

    2011-01-01

    Depression is associated with increased cardiovascular risk in patients with acute coronary syndrome (ACS), but some argue that elevated depression is actually a marker of cardiovascular disease severity. Therefore, disease indices should be better predictors of depression than established theoretical causes of depression (interpersonal life events, reinforcing events, cognitive distortions, type D personality). However, little theory-based research has been conducted in this area. In a cross...

  17. Pregnancy and Childbirth with Neuromuscular Disease

    Science.gov (United States)

    ... better not teach,’” Wiparina said. She got a job in marketing instead. Wiparina married her college sweetheart, a tire store man- ager, ... pregnancy. • It should not be prescribed to pregnant women with myasthenia ... pressure and fluid retention (pre-eclampsia) or the convulsions or coma that ...

  18. Correlations of sleep disorders with severity of obstructive airway disease in mustard gas-injured patients.

    Science.gov (United States)

    Vahedi, Ensieh; Taheri, Saeed; Alaedini, Farshid; Poursaleh, Zohreh; Ameli, Javad; Ghanei, Mostafa

    2012-06-01

    Mustard gas has serious adverse effects on several organs and functions in humans. In this study, we analyzed potential correlations between obstructive airway disease and sleep disorders in Iranian mustard gas-injured patients. We enrolled 30 male mustard gas-injured veterans and civilians from the Chemical Warfare Exposure Clinic at Baqiyatallah Hospital, Tehran. All the subjects underwent comprehensive polysomnographic and spirometric evaluations for diagnosis of sleep disorders. Patients were categorized into three groups according to the severity of their obstructive airway disease based on the Global Initiative for Chronic Obstructive Lung Disease (GOLD) criteria: group 1 (GOLD I and II), group 2 (GOLD III), and group 3 (GOLD IV). Patients with less severe obstructive airway disease had significantly higher rate of hypopnea (p = 0.05) and AHI (p = 0.05). The number of REM events was significantly higher in patients with less severe airway disease (p = 0.028). Stage 1 sleep among patients with higher FEV1 significantly constituted a higher proportion of sleep, and stage 4 sleep was significantly longer in patients with higher DLCO (p = 0.043, both). We found that sleep parameters in SM-exposed patients have some relations with spirometric parameters. Future studies with large patient populations are needed for confirmation of our results, and therapeutic interventions are needed to evaluate endeavors we can do to enhance health and quality of life in our mustard gas-injured population.

  19. Kawasaki disease in Sicily: clinical description and markers of disease severity.

    Science.gov (United States)

    Maggio, Maria Cristina; Corsello, Giovanni; Prinzi, Eugenia; Cimaz, Rolando

    2016-11-02

    Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks, and at 1 year after the onset of the illness. Forty-seven had Typical KD, three Atypical KD and twenty Incomplete KD. Age at the disease onset ranged from 0.1 to 8.9 years. IVIG were administered 5 ± 2 days after the fever started. Defervescence occurred 39 ± 26 hours after the first IVIG infusion. Fifty-six patients (80 %) received 1 dose of IVIG (responders); 14 patients (20 %) had a resistant KD, with persistent fever after the first IVIG dose (non responders). Ten (14 %) non responders responded to the second dose, 4 (5 %) responded to three doses; one needed treatment with high doses of steroids and Infliximab. Cardiac involvement was documented in twenty-two cases (eighteen with transient dilatation/ectasia, fifteen with aneurysms). Pericardial effusion, documented in eleven, was associated with coronaritis and aneurysms, and was present earlier than coronary involvement in seven. Hypoalbuminemia, D-dimer pre-IVIG, gamma-GT pre-IVIG showed a statistically significant direct correlation with IVIG doses, highlighting the role of these parameters as predictor markers of refractory disease. The persistence of elevated CRP, AST, ALT levels, a persistent hyponatremia and hypoalbuminemia after IVIG therapy, also had a statistical significant correlation with IVIG doses. Non responders

  20. Detection and Severity Scoring of Chronic Obstructive Pulmonary Disease Using Volumetric Analysis of Lung CT Images

    International Nuclear Information System (INIS)

    Hosseini, Mohammad Parsa; Soltanian-Zadeh, Hamid; Akhlaghpoor, Shahram

    2012-01-01

    Chronic obstructive pulmonary disease (COPD) is a devastating disease.While there is no cure for COPD and the lung damage associated with this disease cannot be reversed, it is still very important to diagnose it as early as possible. In this paper, we propose a novel method based on the measurement of air trapping in the lungs from CT images to detect COPD and to evaluate its severity. Twenty-five patients and twelve normal adults were included in this study. The proposed method found volumetric changes of the lungs from inspiration to expiration. To this end, trachea CT images at full inspiration and expiration were compared and changes in the areas and volumes of the lungs between inspiration and expiration were used to define quantitative measures (features). Using these features,the subjects were classified into two groups of normal and COPD patients using a Bayesian classifier. In addition, t-tests were applied to evaluate discrimination powers of the features for this classification. For the cases studied, the proposed method estimated air trapping in the lungs from CT images without human intervention. Based on the results, a mathematical model was developed to relate variations of lung volumes to the severity of the disease. As a computer aided diagnosis (CAD) system, the proposed method may assist radiologists in the detection of COPD. It quantifies air trapping in the lungs and thus may assist them with the scoring of the disease by quantifying the severity of the disease

  1. Aortitis With Severe Aortic Regurgitation in Behcet's Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Hsin-Hui Chiu

    2010-01-01

    Full Text Available Behcet's aortitis is a rare, but one of the most severe complications of Behcet's disease. We report a 24-year-old woman who was noted initially to have aortitis and severe aortic regurgitation caused by Behcet's disease. After receiving aortic valve replacement, aortoplasty and immunosuppressant therapy, her condition became stationary. As far as we are aware, she is the youngest case that has undergone surgery. The early onset of hemodynamic decompensation is considered to be related to delay in diagnosis and lack of steroid treatment.

  2. Daily home-based spirometry during withdrawal of inhaled corticosteroid in severe to very severe chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Rodriguez-Roisin R

    2016-08-01

    Full Text Available Roberto Rodriguez-Roisin,1 Kay Tetzlaff,2,3 Henrik Watz,4 Emiel FM Wouters,5 Bernd Disse,2 Helen Finnigan,6 Helgo Magnussen,4 Peter MA Calverley7 1Respiratory Institute, Servei de Pneumologia, Hospital Clínic IDIBAPS-CIBERES, Universitat de Barcelona, Barcelona, Spain; 2Boehringer Ingelheim Pharma GmbH & Co. KG, Ingelheim, Germany; 3Department of Sports Medicine, University of Tübingen, Tübingen, Germany; 4Pulmonary Research Institute at Lung Clinic Grosshansdorf, Airway Research Center North, German Center for Lung Research, Grosshansdorf, Germany; 5Department of Respiratory Medicine, University Hospital Maastricht, Maastricht University, Maastricht, the Netherlands; 6Department of Biostatistics and Data Sciences, Boehringer Ingelheim, Bracknell, UK; 7Institute of Ageing and Chronic Disease, Aintree University Hospital, Liverpool, UK Abstract: The WISDOM study (NCT00975195 reported a change in lung function following withdrawal of fluticasone propionate in patients with severe to very severe COPD treated with tiotropium and salmeterol. However, little is known about the validity of home-based spirometry measurements of lung function in COPD. Therefore, as part of this study, following suitable training, patients recorded daily home-based spirometry measurements in addition to undergoing periodic in-clinic spirometric testing throughout the study duration. We subsequently determined the validity of home-based spirometry for detecting changes in lung function by comparing in-clinic and home-based forced expiratory volume in 1 second in patients who underwent stepwise fluticasone propionate withdrawal over 12 weeks versus patients remaining on fluticasone propionate for 52 weeks. Bland–Altman analysis of these data confirmed good agreement between in-clinic and home-based measurements, both across all visits and at the individual visits at study weeks 6, 12, 18, and 52. There was a measurable difference between the forced expiratory volume

  3. Macrophage phenotype is associated with disease severity in preterm infants with chronic lung disease.

    Science.gov (United States)

    Prince, Lynne R; Maxwell, Nicola C; Gill, Sharonjit K; Dockrell, David H; Sabroe, Ian; McGreal, Eamon P; Kotecha, Sailesh; Whyte, Moira K

    2014-01-01

    The etiology of persistent lung inflammation in preterm infants with chronic lung disease of prematurity (CLD) is poorly characterized, hampering efforts to stratify prognosis and treatment. Airway macrophages are important innate immune cells with roles in both the induction and resolution of tissue inflammation. To investigate airway innate immune cellular phenotypes in preterm infants with respiratory distress syndrome (RDS) or CLD. Bronchoalveolar lavage (BAL) fluid was obtained from term and preterm infants requiring mechanical ventilation. BAL cells were phenotyped by flow cytometry. Preterm birth was associated with an increase in the proportion of non-classical CD14(+)/CD16(+) monocytes on the day of delivery (58.9 ± 5.8% of total mononuclear cells in preterm vs 33.0 ± 6.1% in term infants, p = 0.02). Infants with RDS were born with significantly more CD36(+) macrophages compared with the CLD group (70.3 ± 5.3% in RDS vs 37.6 ± 8.9% in control, p = 0.02). At day 3, infants born at a low gestational age are more likely to have greater numbers of CD14(+) mononuclear phagocytes in the airway (p = 0.03), but fewer of these cells are functionally polarized as assessed by HLA-DR (p = 0.05) or CD36 (p = 0.05) positivity, suggesting increased recruitment of monocytes or a failure to mature these cells in the lung. These findings suggest that macrophage polarization may be affected by gestational maturity, that more immature macrophage phenotypes may be associated with the progression of RDS to CLD and that phenotyping mononuclear cells in BAL could predict disease outcome.

  4. Macrophage phenotype is associated with disease severity in preterm infants with chronic lung disease.

    Directory of Open Access Journals (Sweden)

    Lynne R Prince

    Full Text Available The etiology of persistent lung inflammation in preterm infants with chronic lung disease of prematurity (CLD is poorly characterized, hampering efforts to stratify prognosis and treatment. Airway macrophages are important innate immune cells with roles in both the induction and resolution of tissue inflammation.To investigate airway innate immune cellular phenotypes in preterm infants with respiratory distress syndrome (RDS or CLD.Bronchoalveolar lavage (BAL fluid was obtained from term and preterm infants requiring mechanical ventilation. BAL cells were phenotyped by flow cytometry.Preterm birth was associated with an increase in the proportion of non-classical CD14(+/CD16(+ monocytes on the day of delivery (58.9 ± 5.8% of total mononuclear cells in preterm vs 33.0 ± 6.1% in term infants, p = 0.02. Infants with RDS were born with significantly more CD36(+ macrophages compared with the CLD group (70.3 ± 5.3% in RDS vs 37.6 ± 8.9% in control, p = 0.02. At day 3, infants born at a low gestational age are more likely to have greater numbers of CD14(+ mononuclear phagocytes in the airway (p = 0.03, but fewer of these cells are functionally polarized as assessed by HLA-DR (p = 0.05 or CD36 (p = 0.05 positivity, suggesting increased recruitment of monocytes or a failure to mature these cells in the lung.These findings suggest that macrophage polarization may be affected by gestational maturity, that more immature macrophage phenotypes may be associated with the progression of RDS to CLD and that phenotyping mononuclear cells in BAL could predict disease outcome.

  5. APACHE II SCORING SYSTEM AND ITS MODIFICATION FOR THE ASSESSMENT OF DISEASE SEVERITY IN CHILDREN WHO UNDERWENT POLYCHEMOTHERAPY

    Directory of Open Access Journals (Sweden)

    А. V. Sotnikov

    2014-01-01

    Full Text Available Short-term disease prognosis should be considered for the appropriate treatment policy based on the assessment of disease severity in patients with acute disease. The adequate assessment of disease severity and prognosis allows the indications for transferring patients to the resuscitation and intensive care department to be defined more precisely. Disease severity of patients who underwent polychemotherapy was assessed using APACHE II scoring system.

  6. First Report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) Causing Severe Disease in Allomyrina dichotoma in Korea

    OpenAIRE

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6?wk. This viral disease spreads very fast ...

  7. Deep Neuromuscular Blockade Improves Laparoscopic Surgical Conditions

    DEFF Research Database (Denmark)

    Rosenberg, Jacob; Herring, W Joseph; Blobner, Manfred

    2017-01-01

    INTRODUCTION: Sustained deep neuromuscular blockade (NMB) during laparoscopic surgery may facilitate optimal surgical conditions. This exploratory study assessed whether deep NMB improves surgical conditions and, in doing so, allows use of lower insufflation pressures during laparoscopic cholecys...

  8. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    Science.gov (United States)

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities.

  9. Celiac Disease in Children with Severe Acute Malnutrition (SAM): A Hospital Based Study.

    Science.gov (United States)

    Beniwal, Neetu; Ameta, Gaurav; Chahar, Chandra Kumar

    2017-05-01

    To evaluate the prevalence and clinical features of Celiac disease among children with severe acute malnutrition (SAM). This prospective observational study was conducted in PBM Children Hospital, Bikaner from July 2012 through December 2013. All consecutively admitted children with SAM were recruited. All subjects were screened for Celiac disease by serological test for IgA-anti tissue Transglutaminase (IgA tTG) antibodies. All seropositive children underwent upper gastrointestinal endoscopy for small bowel biopsy for the confirmation. Clinical features of patients with and without celiac disease were compared. The sero-prevalence (IgA tTg positivity) of Celiac disease was found to be 15.38% while prevalence of biopsy confirmed Celiac disease was 14.42% among SAM children. Abdominal distension, diarrhea, anorexia, constipation, pain in abdomen, vitamin deficiencies, edema, clubbing and mouth ulcers were more common in patients of Celiac disease compared to patients without Celiac disease but the difference was statistically significant only for abdominal distension and pain abdomen. There is a high prevalence of Celiac disease in SAM. Screening for Celiac disease (especially in presence of pain abdomen and abdominal distension) should be an essential part of work-up in all children with SAM.

  10. Estrogen exposure, obesity and thyroid disease in women with severe pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Sweeney Lori

    2009-09-01

    Full Text Available Abstract Severe pulmonary hypertension is a lethal group of disorders which preferentially afflicts women. It appears that in recent years the patient profile has shifted towards older, obese, and postmenopausal women, suggesting that endocrine factors may be important. Several studies have revealed an increased prevalence of thyroid disease in these patients, but no studies have evaluated for a coexistence of endocrine factors. In particular, no studies have attempted to evaluate for concurrent thyroid disease, obesity and long-term estrogen exposure in patients. 88 patients attending the Pulmonary Hypertension Association 8th International meeting completed a questionnaire and were interviewed. Information was collected regarding reproductive history, height, weight, and previous diagnosis of thyroid disease. 46% met criteria for obesity. 41% reported a diagnosis of thyroid disease. 81% of women reported prior use of hormone therapy. 70% reported greater than 10 years of exogenous hormone use. 74% of female patients reported two or more of potentially disease modifying endocrine factors (obesity, thyroid disease or estrogen therapy. The coexistent high prevalence in our cohort of exogenous estrogen exposure, thyroid disease and obesity suggests that an interaction of multiple endocrine factors might contribute to the pathogenesis of pulmonary hypertension and may represent epigenetic modifiers in genetically-susceptible individuals.

  11. Prediction of Severe Disease in Children with Diarrhea in a Resource-Limited Setting

    Science.gov (United States)

    Levine, Adam C.; Munyaneza, Richard M.; Glavis-Bloom, Justin; Redditt, Vanessa; Cockrell, Hannah C.; Kalimba, Bantu; Kabemba, Valentin; Musavuli, Juvenal; Gakwerere, Mathias; Umurungi, Jean Paul de Charles; Shah, Sachita P.; Drobac, Peter C.

    2013-01-01

    Objective To investigate the accuracy of three clinical scales for predicting severe disease (severe dehydration or death) in children with diarrhea in a resource-limited setting. Methods Participants included 178 children admitted to three Rwandan hospitals with diarrhea. A local physician or nurse assessed each child on arrival using the World Health Organization (WHO) severe dehydration scale and the Centers for Disease Control (CDC) scale. Children were weighed on arrival and daily until they achieved a stable weight, with a 10% increase between admission weight and stable weight considered severe dehydration. The Clinical Dehydration Scale was then constructed post-hoc using the data collected for the other two scales. Receiver Operator Characteristic (ROC) curves were constructed for each scale compared to the composite outcome of severe dehydration or death. Results The WHO severe dehydration scale, CDC scale, and Clinical Dehydration Scale had areas under the ROC curves (AUCs) of 0.72 (95% CI 0.60, 0.85), 0.73 (95% CI 0.62, 0.84), and 0.80 (95% CI 0.71, 0.89), respectively, in the full cohort. Only the Clinical Dehydration Scale was a significant predictor of severe disease when used in infants, with an AUC of 0.77 (95% CI 0.61, 0.93), and when used by nurses, with an AUC of 0.78 (95% CI 0.63, 0.93). Conclusions While all three scales were moderate predictors of severe disease in children with diarrhea, scale accuracy varied based on provider training and age of the child. Future research should focus on developing or validating clinical tools that can be used accurately by nurses and other less-skilled providers to assess all children with diarrhea in resource-limited settings. PMID:24349271

  12. Neuromuscular control of prey capture in frogs.

    OpenAIRE

    Nishikawa, K C

    1999-01-01

    While retaining a feeding apparatus that is surprisingly conservative morphologically, frogs as a group exhibit great variability in the biomechanics of tongue protraction during prey capture, which in turn is related to differences in neuromuscular control. In this paper, I address the following three questions. (1) How do frog tongues differ biomechanically? (2) What anatomical and physiological differences are responsible? (3) How is biomechanics related to mechanisms of neuromuscular cont...

  13. An Evidenced-Based Scale of Disease Severity following Human Challenge with Enteroxigenic Escherichia coli.

    Directory of Open Access Journals (Sweden)

    Chad K Porter

    Full Text Available Experimental human challenge models have played a major role in enhancing our understanding of infectious diseases. Primary outcomes have typically utilized overly simplistic outcomes that fail to entirely account for complex illness syndromes. We sought to characterize clinical outcomes associated with experimental infection with enterotoxigenic Escherichia coli (ETEC and to develop a disease score.Data were obtained from prior controlled human ETEC infection studies. Correlation and univariate regression across sign and symptom severity was performed. A multiple correspondence analysis was conducted. A 3-parameter disease score with construct validity was developed in an iterative fashion, compared to standard outcome definitions and applied to prior vaccine challenge trials.Data on 264 subjects receiving seven ETEC strains at doses from 1x105 to 1x1010 cfu were used to construct a standardized dataset. The strongest observed correlation was between vomiting and nausea (r = 0.65; however, stool output was poorly correlated with subjective activity-impacting outcomes. Multiple correspondence analyses showed covariability in multiple signs and symptoms, with severity being the strongest factor corresponding across outcomes. The developed disease score performed well compared to standard outcome definitions and differentiated disease in vaccinated and unvaccinated subjects.Frequency and volumetric definitions of diarrhea severity poorly characterize ETEC disease. These data support a disease severity score accounting for stool output and other clinical signs and symptoms. Such a score could serve as the basis for better field trial outcomes and gives an additional outcome measure to help select future vaccines that warrant expanded testing in pivotal pre-licensure trials.

  14. Magnetic resonance imaging perfusion is associated with disease severity and activity in multiple sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Sowa, Piotr [Oslo University Hospital, Department of Radiology and Nuclear Medicine, Oslo (Norway); University of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo (Norway); Owren Nygaard, Gro [Oslo University Hospital, Department of Neurology, Oslo (Norway); Bjoernerud, Atle [Intervention Center, Oslo University Hospital, Oslo (Norway); University of Oslo, Department of Physics, Oslo (Norway); Gulowsen Celius, Elisabeth [Oslo University Hospital, Department of Neurology, Oslo (Norway); University of Oslo, Institute of Health and Society, Faculty of Medicine, Oslo (Norway); Flinstad Harbo, Hanne [University of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo (Norway); Oslo University Hospital, Department of Neurology, Oslo (Norway); Kristiansen Beyer, Mona [Oslo University Hospital, Department of Radiology and Nuclear Medicine, Oslo (Norway); Oslo and Akershus University College of Applied Sciences, Department of Life Sciences and Health, Oslo (Norway)

    2017-07-15

    The utility of perfusion-weighted imaging in multiple sclerosis (MS) is not well investigated. The purpose of this study was to compare baseline normalized perfusion measures in subgroups of newly diagnosed MS patients. We wanted to test the hypothesis that this method can differentiate between groups defined according to disease severity and disease activity at 1 year follow-up. Baseline magnetic resonance imaging (MRI) including a dynamic susceptibility contrast perfusion sequence was performed on a 1.5-T scanner in 66 patients newly diagnosed with relapsing-remitting MS. From the baseline MRI, cerebral blood flow (CBF), cerebral blood volume (CBV), and mean transit time (MTT) maps were generated. Normalized (n) perfusion values were calculated by dividing each perfusion parameter obtained in white matter lesions by the same parameter obtained in normal-appearing white matter. Neurological examination was performed at baseline and at follow-up approximately 1 year later to establish the multiple sclerosis severity score (MSSS) and evidence of disease activity (EDA). Baseline normalized mean transit time (nMTT) was lower in patients with MSSS >3.79 (p = 0.016), in patients with EDA (p = 0.041), and in patients with both MSSS >3.79 and EDA (p = 0.032) at 1-year follow-up. Baseline normalized cerebral blood flow and normalized cerebral blood volume did not differ between these groups. Lower baseline nMTT was associated with higher disease severity and with presence of disease activity 1 year later in newly diagnosed MS patients. Further longitudinal studies are needed to confirm whether baseline-normalized perfusion measures can differentiate between disease severity and disease activity subgroups over time. (orig.)

  15. Magnetic resonance imaging perfusion is associated with disease severity and activity in multiple sclerosis

    International Nuclear Information System (INIS)

    Sowa, Piotr; Owren Nygaard, Gro; Bjoernerud, Atle; Gulowsen Celius, Elisabeth; Flinstad Harbo, Hanne; Kristiansen Beyer, Mona

    2017-01-01

    The utility of perfusion-weighted imaging in multiple sclerosis (MS) is not well investigated. The purpose of this study was to compare baseline normalized perfusion measures in subgroups of newly diagnosed MS patients. We wanted to test the hypothesis that this method can differentiate between groups defined according to disease severity and disease activity at 1 year follow-up. Baseline magnetic resonance imaging (MRI) including a dynamic susceptibility contrast perfusion sequence was performed on a 1.5-T scanner in 66 patients newly diagnosed with relapsing-remitting MS. From the baseline MRI, cerebral blood flow (CBF), cerebral blood volume (CBV), and mean transit time (MTT) maps were generated. Normalized (n) perfusion values were calculated by dividing each perfusion parameter obtained in white matter lesions by the same parameter obtained in normal-appearing white matter. Neurological examination was performed at baseline and at follow-up approximately 1 year later to establish the multiple sclerosis severity score (MSSS) and evidence of disease activity (EDA). Baseline normalized mean transit time (nMTT) was lower in patients with MSSS >3.79 (p = 0.016), in patients with EDA (p = 0.041), and in patients with both MSSS >3.79 and EDA (p = 0.032) at 1-year follow-up. Baseline normalized cerebral blood flow and normalized cerebral blood volume did not differ between these groups. Lower baseline nMTT was associated with higher disease severity and with presence of disease activity 1 year later in newly diagnosed MS patients. Further longitudinal studies are needed to confirm whether baseline-normalized perfusion measures can differentiate between disease severity and disease activity subgroups over time. (orig.)

  16. Natural history of severe atheromatous disease of the thoracic aorta: a transesophageal echocardiographic study.

    Science.gov (United States)

    Montgomery, D H; Ververis, J J; McGorisk, G; Frohwein, S; Martin, R P; Taylor, W R

    1996-01-01

    This study sought to prospectively observe the morphologic and clinical natural history of severe atherosclerotic disease of the thoracic aorta as defined by transesophageal echocardiography. Atherosclerosis of the thoracic aorta has been shown to be highly associated with risk for embolic events in transesophageal studies, but the natural history of the disease under clinical conditions has not been reported. During a 20-month period, 191 of 264 patients undergoing transesophageal echocardiography had adequate visualization of the aorta to allow atherosclerotic severity to be graded as follows: grade I = normal (44 patients); grade II = intimal thickening (52 patients); grade III = atheroma or = 5 mm (19 patients); grade V = mobile lesion (14 patients). All available patients with grades IV (8 patients) and V (10 patients) disease as well as a subgroup of 12 patients with grade III disease had follow-up transesophageal echocardiographic studies (mean [+/- SD] 11.7 +/- 0.9 months, range 6 to 22). Of 30 patients undergoing follow-up transesophageal echocardiographic studies, 20 (66%) had no change in atherosclerotic severity grade. Of the remaining 10 patients, atherosclerotic severity progressed one grade in 7 and decreased in 3 with resolved mobile lesions. Of 18 patients with grade IV or V disease of the aorta who underwent a follow-up study, 11 (61%) demonstrated formation of new mobile lesions. Of 10 patients with grade V disease on initial study who underwent follow-up study, 7 (70%) demonstrated resolution of a specific previously documented mobile lesion. However, seven patients (70%) with grade V disease also demonstrated development of a new mobile lesion. Of 33 patients with grade IV or V disease, 8 (24%) died during the study period, and 1 (3%) had a clinical embolic event. The presence of severe atherosclerotic disease of the thoracic aorta as defined by transesophageal echocardiography is associated with a high mortality rate. Although the morphologic

  17. Neuromuscular blockade in the elderly patient

    Directory of Open Access Journals (Sweden)

    Lee LA

    2016-06-01

    Full Text Available Luis A Lee, Vassilis Athanassoglou, Jaideep J Pandit Nuffield Department of Anaesthetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Abstract: Neuromuscular blockade is a desirable or even essential component of general anesthesia for major surgical operations. As the population continues to age, and more operations are conducted in the elderly, due consideration must be given to neuromuscular blockade in these patients to avoid possible complications. This review considers the pharmacokinetics and pharmacodynamics of neuromuscular blockade that may be altered in the elderly. Compartment distribution, metabolism, and excretion of drugs may vary due to age-related changes in physiology, altering the duration of action with a need for reduced dosage (eg, aminosteroids. Other drugs (atracurium, cisatracurium have more reliable duration of action and should perhaps be considered for use in the elderly. The range of interpatient variability that neuromuscular blocking drugs may exhibit is then considered and drugs with a narrower range, such as cisatracurium, may produce more predictable, and inherently safer, outcomes. Ultimately, appropriate neuromuscular monitoring should be used to guide the administration of muscle relaxants so that the risk of residual neuromuscular blockade postoperatively can be minimized. The reliability of various monitoring is considered. This paper concludes with a review of the various reversal agents, namely, anticholinesterase drugs and sugammadex, and the alterations in dosing of these that should be considered for the elderly patient. Keywords: anesthesia, elderly, drugs, pharmacokinetics, pharmacodynamics 

  18. Hypercoagulability in end-stage liver disease: prevalence and its correlation with severity of liver disease and portal vein thrombosis.

    Science.gov (United States)

    Singhal, Ashish; Karachristos, Andreas; Bromberg, Michael; Daly, Ellen; Maloo, Manoj; Jain, Ashok Kumar

    2012-11-01

    Contrary to well-recognized bleeding diathesis in chronic liver disease, thrombotic events can occur in these patients due to reduction or loss of synthesis of anticoagulant proteins. Forty-seven consecutive patients with end-stage liver disease (ESLD) were investigated for activity of protein C, protein S, antithrombin, and factor V Leiden mutation. Forty-two (89.4%) patients had low levels of at least 1 while 33 (70.2%) patients were deficient for all anticoagulant proteins studied. Forty-six (97.9%) patients were negative for factor V Leiden mutation. The deficiencies were more marked in hepatitis C virus-positive patients and patients with model for end-stage liver disease (MELD) score >15. Six (12.8%) patients had portal vein thrombosis (PVT), and all had diminished protein S activity. In conclusions, deficiency of anticoagulant proteins occur in early phase of chronic liver disease. The severity of deficiency is proportional to the severity of liver disease. Despite the high prevalence of hypercoagulability, the incidence of PVT is low. Further studies with larger cohort of patients are needed to support these conclusions and to study other associated factors.

  19. Health-related quality of life is related to COPD disease severity

    Directory of Open Access Journals (Sweden)

    Rönmark Eva

    2005-09-01

    Full Text Available Abstract Background The aim of this study was to evaluate the association between health-related quality of life (HRQL and disease severity using lung function measures. Methods A survey was performed in subjects with COPD in Sweden. 168 subjects (70 women, mean age 64.3 years completed the generic HRQL questionnaire, the Short Form 36 (SF-36, the disease-specific HRQL questionnaire; the St George's Respiratory Questionnaire (SGRQ, and the utility measure, the EQ-5D. The subjects were divided into four severity groups according to FEV1 per cent of predicted normal using two clinical guidelines: GOLD and BTS. Age, gender, smoking status and socio-economic group were regarded as confounders. Results The COPD severity grades affected the SGRQ Total scores, varying from 25 to 53 (GOLD p = 0.0005 and from 25 to 45 (BTS p = 0.0023. The scores for SF-36 Physical were significantly associated with COPD severity (GOLD p = 0.0059, BTS p = 0.032. No significant association were noticed for the SF-36, Mental Component Summary scores and COPD severity. Scores for EQ-5D VAS varied from 73 to 37 (GOLD I-IV p = 0.0001 and from 73 to 50 (BTS 0-III p = 0.0007. The SGRQ Total score was significant between age groups (p = 0.0047. No significant differences in HRQL with regard to gender, smoking status or socio-economic group were noticed. Conclusion The results show that HRQL in COPD deteriorates with disease severity and with age. These data show a relationship between HRQL and disease severity obtained by lung function.

  20. Celiac Disease in Children with Moderate-to-Severe Iron-deficiency Anemia.

    Science.gov (United States)

    Narang, Manish; Natarajan, Ravikumar; Shah, Dheeraj; Puri, Amarender Singh; Manchanda, Vikas; Kotru, Mrinalini

    2018-01-15

    To evaluate the proportion of children with moderate to severe iron-deficiency anemia who have associated celiac disease. This cross-sectional analytical study was conducted among children aged 1 to 12 years of age with moderate-to-severe iron deficiency anemia and control children without anemia. Serum IgA-tissue trans-glutaminase levels were assessed in both cases and controls. All children with positive celiac serology underwent upper gastrointestinal endoscopy and duodenal biopsy; biopsy finding of Marsh grade 3 was considered positive for celiac disease. There were 152 anemic children and 152 controls with mean (SD) hemoglobinof 7.7 (1.8) and 12.2 (0.74) g/dL, respectively. 16 (10.5%) cases and 3 (2%) control patients had positive serology for celiac disease [OR (95% CI) 5.33 (1.52-18.67), P=0.007]. Six (3.9%) children with iron-deficiency anemia and none of the controls had biopsy features diagnostic of celiac disease. In the Northern Indian tertiary-care hospital outpatient setting, Celiac disease was associated with 4% of children presenting with moderate-to-severe anemia.

  1. Median and Ulnar Neuropathy Assessment in Parkinson’s Disease regarding Symptom Severity and Asymmetry

    Directory of Open Access Journals (Sweden)

    Nilgul Yardimci

    2016-01-01

    Full Text Available Background. While increasing evidence suggests comorbidity of peripheral neuropathy (PNP and Parkinson’s disease (PD, the pathogenesis of PNP in PD is still a debate. The aim of this article is to search the core PD symptoms such as rigidity and tremor as contributing factors to mononeuropathy development while emphasizing each individual patient’s asymmetric symptom severity. Methods. We studied 62 wrists and 62 elbows of 31 patients (mean age 66.48±10.67 and 64 wrists and 64 elbows of 32 age-gender matched healthy controls (mean age 62.03±10.40, p=0.145. The Hoehn and Yahr disability scale and Unified Parkinson’s Disease Rated Scale were used to determine the severity of the disease. Results. According to electrodiagnostic criteria, we confirmed median neuropathy in 16.12% (bilateral in two-thirds of the patients and ulnar neuropathy in 3.22% of the PD group. While mean age (p=0.003, age at PD onset (p=0.019, and H&Y scores (p=0.016 were significant, tremor and rigidity scores were not. The comparison of the mean indices of electrophysiologic parameters indicated subclinical median and ulnar nerve demyelination both at the wrist and at the elbow in the patient groups where a longer disease duration and mild tremor and rigidity scores are prominent, remarkably. Conclusion. A disease related peripheral neurodegeneration beyond symptom severity occurs in PD.

  2. Increased endothelial and macrophage markers are associated with disease severity and mortality in scrub typhus.

    Science.gov (United States)

    Otterdal, Kari; Janardhanan, Jeshina; Astrup, Elisabeth; Ueland, Thor; Prakash, John A J; Lekva, Tove; Abraham, O C; Thomas, Kurien; Damås, Jan Kristian; Mathews, Prasad; Mathai, Dilip; Aukrust, Pål; Varghese, George M

    2014-11-01

    Scrub typhus is endemic in the Asia-Pacific region. Mortality is high even with treatment, and further knowledge of the immune response during this infection is needed. This study was aimed at comparing plasma levels of monocyte/macrophage and endothelial related inflammatory markers in patients and controls in South India and to explore a possible correlation to disease severity and clinical outcome. Plasma levels of ALCAM, VCAM-1, sCD163, sCD14, YKL-40 and MIF were measured in scrub typhus patients (n = 129), healthy controls (n = 31) and in infectious disease controls (n = 31), both in the acute phase and after recovery, by enzyme immunoassays. Patients had markedly elevated levels of all mediators in the acute phase, differing from both healthy and infectious disease controls. During follow-up levels of ALCAM, VCAM-1, sCD14 and YKL-40 remained elevated compared to levels in healthy controls. High plasma ALCAM, VCAM-1, sCD163, sCD14, and MIF, and in particular YKL-40 were all associated with disease severity and ALCAM, sCD163, MIF and especially YKL-40, were associated with mortality. Our findings show that scrub typhus is characterized by elevated levels of monocyte/macrophage and endothelial related markers. These inflammatory markers, and in particular YKL-40, may contribute to disease severity and clinical outcome. Copyright © 2014 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  3. Stem cell route to neuromuscular therapies.

    Science.gov (United States)

    Partridge, Terence A

    2003-02-01

    As applied to skeletal muscle, stem cell therapy is a reincarnation of myoblast transfer therapy that has resulted from recent advances in the cell biology of skeletal muscle. Both strategies envisage the reconstruction of damaged muscle from its precursors, but stem cell therapy employs precursors that are earlier in the developmental hierarchy. It is founded on demonstrations of apparently multipotential cells in a wide variety of tissues that can assume, among others, a myogenic phenotype. The main demonstrated advantage of such cells is that they are capable of colonizing many tissues, including skeletal and cardiac muscle via the blood vascular system, thereby providing the potential for a body-wide distribution of myogenic progenitors. From a practical viewpoint, the chief disadvantage is that such colonization has been many orders of magnitude too inefficient to be useful. Proposals for overcoming this drawback are the subject of much speculation but, so far, relatively little experimentation. This review attempts to give some perspective to the status of the stem cell as a therapeutic instrument for neuromuscular disease and to identify issues that need to be addressed for application of this technology.

  4. Disease severity estimates - effects of rater accuracy and assessments methods for comparing treatments

    Science.gov (United States)

    Assessment of disease is fundamental to the discipline of plant pathology, and estimates of severity are often made visually. However, it is established that visual estimates can be inaccurate and unreliable. In this study estimates of Septoria leaf blotch on leaves of winter wheat from non-treated ...

  5. Increased circulating calcitonin in cirrhosis. Relation to severity of disease and calcitonin gene-related peptide

    DEFF Research Database (Denmark)

    Henriksen, Jens Henrik Sahl; Schifter, S; Møller, S

    2000-01-01

    circulating plasma concentrations of CT in patients with cirrhosis in relation to the severity of disease and the plasma level of CGRP. Moreover, the kinetics of CT was evaluated for different organ systems by determination of arteriovenous extraction. Thirty-nine patients with cirrhosis (Child...... system, lower extremities, or peripheral circulation, but there was a substantial rate of pulmonary disposal and clearance (P

  6. [Neonatal ABO incompatibility underlies a potentially severe hemolytic disease of the newborn and requires adequate care].

    Science.gov (United States)

    Senterre, T; Minon, J-M; Rigo, J

    2011-03-01

    ABO allo-immunization is the most frequent hemolytic disease of the newborn and ABO incompatibility is present in 15-25 % of pregnancies. True ABO alloimmunization occurs in approximately one out of 150 births. Intensity is generally lower than in RhD allo-immunization. We report on three cases showing that ABO allo-immunization can lead to severe hemolytic disease of the newborn with potentially threatening hyperbilirubinemia and complications. Early diagnosis and adequate care are necessary to prevent complications in ABO incompatibility. A direct antiglobulin test is the cornerstone of diagnosis and should be performed at birth on cord blood sampling in all group infants born to O mothers, especially if of African origin. Risk factor analysis and attentive clinical monitoring during the first days of life are essential. Vigilance is even more important for infants discharged before the age of 72 h. Every newborn should be assessed for the risk of developing severe hyperbilirubinemia and should be examined by a qualified healthcare professional in the first days of life. Treatment depends on the total serum bilirubin level, which may increase very rapidly in the first 48 h of life in cases of hemolytic disease of the newborn. Phototherapy and, in severe cases, exchange transfusion are used to prevent hyperbilirubinemia encephalopathy. Intravenous immunoglobulins are used to reduce exchange transfusion. Treatments of severe hemolytic disease of the newborn should be provided and performed by trained personnel in neonatal intensive care units. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  7. Dengue disease severity in Indonesian children: An evaluation of the World Health Organization classification system

    NARCIS (Netherlands)

    T.E. Setiati (Tatty); A.T.A. Mairuhu; P. Koraka (Penelope); M. Supriatna (Mohamad); M.R. Mac Gillavry (Melvin); D.P.M. Brandjes (Dees); A.D.M.E. Osterhaus (Albert); J.W.M. van der Meer (Jos); E.C.M. van Gorp (Eric); A. Soemantri (Augustinus)

    2007-01-01

    textabstractBackground: Dengue disease severity is usually classified using criteria set up by the World Health Organization (WHO). We aimed to assess the diagnostic accuracy of the WHO classification system and modifications to this system, and evaluated their potential practical usefulness.

  8. The ethnicity-specific association of biomarkers with the angiographic severity of coronary artery disease

    NARCIS (Netherlands)

    Gijsberts, C M; Bank, I E M; Seneviratna, A; den Ruijter, H M; Asselbergs, F W; Agostoni, P; Remijn, J A; Pasterkamp, G; Kiat, H C; Roest, M; Richards, A M; Chan, M Y; de Kleijn, D P V; Hoefer, I E

    BACKGROUND: Risk factor burden and clinical characteristics of patients with coronary artery disease (CAD) differ among ethnic groups. We related biomarkers to CAD severity in Caucasians, Chinese, Indians and Malays. METHODS: In the Dutch-Singaporean UNICORN coronary angiography cohort (n = 2033) we

  9. Influence of smoking on disease severity and antimalarial therapy in cutaneous lupus erythematosus

    DEFF Research Database (Denmark)

    Kuhn, A; Sigges, J; Biazar, C

    2014-01-01

    . Smoking behaviour was assessed by the EUSCLE Core Set Questionnaire in 838 patients and statistically analysed using an SPSS database. The results were correlated with the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) and the efficacy of antimalarial treatment. RESULTS: A high...

  10. Severity of atopic disease inversely correlates with intestinal microbiota diversity and butyrate-producing bacteria

    NARCIS (Netherlands)

    Nylund, L.; Nermes, M.; Isolauri, E.; Salminen, S.; Vos, de W.M.; Satokari, R.

    2015-01-01

    The reports on atopic diseases and microbiota in early childhood remain contradictory and both decreased and increased microbiota diversity have been associated with atopic eczema. In this study, the intestinal microbiota signatures associated with the severity of eczema in 6-month-old infants were

  11. Targeting neutrophilic inflammation in severe neutrophilic asthma : can we target the disease-relevant neutrophil phenotype?

    NARCIS (Netherlands)

    Bruijnzeel, Piet L B; Uddin, Mohib; Koenderman, Leo

    2015-01-01

    In severe, neutrophilic asthma, neutrophils are thought to have an important role in both the maintenance of the disease and during exacerbations. These patients often display excessive, mucosal airway inflammation with unresolving neutrophilia. Because this variant of asthma is poorly controlled by

  12. Severe neuroinvasive West Nile virus infection in a child with undiagnosed Addison's disease

    Directory of Open Access Journals (Sweden)

    Kevin Messacar

    2014-01-01

    Full Text Available This report describes a case of West Nile virus (WNV meningoencephalitis in a child who presented with fever, headache, seizures, and altered mental status, as well as hyponatremia and bronzing of the skin. Findings that led to the diagnosis of WNV included plasma-cell pleocytosis of the cerebrospinal fluid (CSF and linear chorioretinitis on ophthalmologic exam. The diagnosis was confirmed by a positive serum and CSF WNV IgM. The acute WNV infection triggered an adrenal crisis which uncovered a new diagnosis of underlying Addison's disease. This is the first case report of severe neuroinvasive WNV disease in a pediatric patient with primary adrenal insufficiency. Neuroinvasive WNV disease is uncommon in children, but may have a more severe presentation in those with certain underlying medical conditions.

  13. First report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) causing severe disease in Allomyrina dichotoma in Korea.

    Science.gov (United States)

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6 wk. This viral disease spreads very fast in several locations throughout Korea. This threat not only makes economic loss of local farms rearing A. dichotoma larvae but also may disturb the ecosystem by transmitting to wild A. dichotoma. © The Author 2015. Published by Oxford University Press on behalf of the Entomological Society of America.

  14. Human Metapneumovirus Infection is Associated with Severe Respiratory Disease in Preschool Children with History of Prematurity.

    Science.gov (United States)

    Pancham, Krishna; Sami, Iman; Perez, Geovanny F; Huseni, Shehlanoor; Kurdi, Bassem; Rose, Mary C; Rodriguez-Martinez, Carlos E; Nino, Gustavo

    2016-02-01

    Human metapneumovirus (HMPV) is a recently discovered respiratory pathogen of the family Paramyxoviridae, the same family as that of respiratory syncytial virus (RSV). Premature children are at high risk of severe RSV infections, however, it is unclear whether HMPV infection is more severe in hospitalized children with a history of severe prematurity. We conducted a retrospective analysis of the clinical respiratory presentation of all polymerase chain reaction-confirmed HMPV infections in preschool-age children (≤5 years) with and without history of severe prematurity (prematurity. Preschool children with a history of prematurity had more severe HMPV disease as illustrated by longer hospitalizations, new or increased need for supplemental O2, and higher severity scores independently of age, ethnicity, and history of asthma. Our study suggests that HMPV infection causes significant disease burden among preschool children with a history of prematurity leading to severe respiratory infections and increasing health care resource utilization due to prolonged hospitalizations. Copyright © 2016. Published by Elsevier B.V.

  15. Diverting Ileostomy for the Treatment of Severe, Refractory, Pediatric Inflammatory Bowel Disease.

    Science.gov (United States)

    Maxwell, Elizabeth C; Dawany, Noor; Baldassano, Robert N; Mamula, Petar; Mattei, Peter; Albenberg, Lindsey; Kelsen, Judith R

    2017-09-01

    Diverting ileostomy is used as a temporizing therapy in patients with perianal Crohn disease; however, little data exist regarding its use for colonic disease. The primary aim of the present study was to determine the role of diversion in severe refractory colonic inflammatory bowel disease (IBD) in a pediatric population. Retrospective study of patients who underwent diverting ileostomy at The Children's Hospital of Philadelphia from 2000 to 2014 for the management of severe, refractory colonic IBD. Clinical variables were compared in the 1 year before ileostomy and 1 year after diversion. Surgical and disease outcomes including changes in diagnosis were reviewed through 2015. Twenty-four patients underwent diverting ileostomy for refractory colonic disease. Initial diagnoses were Crohn disease in 10 (42%), ulcerative colitis in 1 (4%), and IBD-unclassified in 13 patients (54%). Comparing data before and after surgery, there were statistically significant improvements in height and weight velocities, height velocity z score, blood transfusion requirement, hemoglobin, and hospitalization rates. Chronic steroid use decreased from 71% to 22%. At the conclusion of the study, 10 patients had undergone subsequent colectomy, 7 had successful bowel reanastomosis, and 7 remain diverted. Seven patients (29%) had a change in diagnosis. There were 13 surgical complications in 7 subjects, including prolapse reduction, stoma revision, and resection of ischemic bowel. In pediatric patients with refractory colonic IBD, diverting ileostomy can be a successful intervention to induce clinical stability. Importantly, diversion is a steroid-sparing therapy and allows additional time to clarify the diagnosis.

  16. Non-linear increase of respiratory diseases and their costs under severe air pollution.

    Science.gov (United States)

    Shen, Ying; Wu, Yiyun; Chen, Guangdi; Van Grinsven, Hans J M; Wang, Xiaofeng; Gu, Baojing; Lou, Xiaoming

    2017-05-01

    China is experiencing severe and persistent air pollution, with concentrations of fine particulate matters (PM 2.5 ) reaching unprecedentedly high levels in many cities. Quantifying the detrimental effects on health and their costs derived from high PM 2.5 levels is crucial because of the unsolved challenges to mitigate air pollution in the following decades. Using the daily monitoring data on PM 2.5 concentrations and clinic visits, we found a non-linear increase of respiratory diseases, but not for other diseases (e.g., digestive diseases) under severe air pollution. We found an increase of respiratory diseases by 1% for each 10 μg m -3 increase in PM 2.5 when the annual average daily PM 2.5 concentration was less than 50 μg m -3 ; while this ratio was doubled (around 2%) with the daily PM 2.5 concentration larger than 50 μg m -3 . Under severe air pollution (PM 2.5 concentration >150 μg m -3 ), the respiratory diseases increased by over 50% compared to that in clean days. Children are more sensitive to the severe air pollution. The increase of clinic visits, especially for adults, was observed mainly in bigger (>500 beds) hospitals. Re-allocating medical resources (e.g., doctors) from big hospitals to community hospitals can benefit the respiratory patients due to air pollution. The total medical cost of clinic visits of respiratory diseases derived from PM 2.5 pollution was estimated at 17.2-57.0 billion Yuan in 2014 in China, accounting for 0.5-1.6% of national total health expenditure. Because these medical costs only represent a small part of total health cost derived from air pollution, the reduction of associated health costs would be an important co-benefit of implementation of air pollution preventive strategies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. The potential influence of atherogenic dyslipidemia on the severity of chronic Chagas heart disease

    Directory of Open Access Journals (Sweden)

    Luz Peverengo

    2016-02-01

    Full Text Available SUMMARY Introduction: chronic Chagas heart disease (CCHD is the most common manifestation of American Trypanosomiasis, causing about 50,000 deaths annually. Several factors bear correlation with the severity of CCHD. However, to our knowledge, the assessment on the contribution of major cardiovascular risk factors (CRF, such as hypertension and atherogenic dyslipidemia (AD to CCHD severity is scarce, despite their well-established role in coronary artery disease, heart failure and stroke. Objective: to explore the potential relationship of blood pressure and AD with the clinical profile of patients with CCHD. Methods: we performed a cross-sectional study in T. cruziseropositive patients categorized according to a standard CCHD classification. All individuals were subjected to complete clinical examination. Autoantibodies induced by T. cruzi were assessed by ELISA. Results: we observed that Atherogenic index (AI levels rose significantly in relation to the severity of the CCHD stage, with CCHD III cases showing the highest values of AI. Furthermore, those patients with globally dilated cardiomyopathy with reduced ejection fraction showed higher levels of AI. In regard to autoantibodies, anti-B13 also showed relation with the severity of the disease. Conclusion: we observed that AI correlated with CCHD stages and contributed, in association with anti-B13 antibodies and age, to the prediction of systolic heart failure.

  18. Association of Multiple Genetic Variants with the Extension and Severity of Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Simone Cristina Pinto Matheus Fischer

    2018-02-01

    Full Text Available Abstract Background: Metabolic syndrome (MS is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis. Objectives: To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS. Methods: Patients (n = 116, 68% males aged 56 (9 years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS. Clinical and laboratory parameters, high-sensitivity C-reactive protein, thiobarbituric acid reactive substances, adiponectin, endothelial function, and the Gensini score were assessed. Polymorphisms of paraoxonase-1 (PON-1, methylenotetrahydrofolate reductase (MTHFR, endothelial nitric oxide synthase (ENOS, angiotensin-converting enzyme (ACE, angiotensin II type 1 receptor (AT1R, apolipoprotein C3 (APOC3, lipoprotein lipase (LPL were analysed by polymerase chain reaction (PCR technique, followed by the identification of restriction fragment length polymorphisms (RFLP, and a genetic score was calculated. Parametric and non-parametric tests were used, as appropriate. Significance was set at p < 0.05. Results: Polymorphisms of PON-1, MTHFR and ENOS were not in the Hardy-Weinberg equilibrium. The DD genotype of LPL was associated with higher severity and greater extension of coronary lesions. Genetic score tended to be higher in patients with Gensini score < P50 (13.7 ± 1.5 vs. 13.0 ± 1.6, p = 0.066, with an inverse correlation between genetic and Gensini scores (R = -0.194, p = 0.078. Conclusions: The LPL polymorphism contributed to the severity of coronary disease in patients with MS and recent ACS. Combined polymorphisms were associated with the extension of coronary disease, and the lower the genetic score the more severe the disease.

  19. [Severe Yellow fever vaccine-associated disease: a case report and current overview].

    Science.gov (United States)

    Slesak, Günther; Gabriel, Martin; Domingo, Cristina; Schäfer, Johannes

    2017-08-01

    History and physical examination  A 56-year-old man developed high fever with severe headaches, fatigue, impaired concentration skills, and an exanthema 5 days after a yellow fever (YF) vaccination. Laboratory tests  Liver enzymes and YF antibody titers were remarkably elevated. YF vaccine virus was detected in urine by PCR. Diagnosis and therapy  Initially, severe YF vaccine-associated visceral disease was suspected and treated symptomatically. Clinical Course  His fever ceased after 10 days in total, no organ failure developed. However, postencephalitic symptoms persisted with fatigue and impaired concentration, memory, and reading skills and partly incapability to work for over 3 months. A diagnosis was made of suspected YF vaccine-associated neurotropic disease. Conclusion  Severe vaccine-derived adverse effects need to be considered in the indication process for YF vaccination. © Georg Thieme Verlag KG Stuttgart · New York.

  20. Predictors of disease severity in patients admitted to a cholera treatment center in urban Haiti.

    Science.gov (United States)

    Valcin, Claude-Lyne; Severe, Karine; Riche, Claudia T; Anglade, Benedict S; Moise, Colette Guiteau; Woodworth, Michael; Charles, Macarthur; Li, Zhongze; Joseph, Patrice; Pape, Jean W; Wright, Peter F

    2013-10-01

    Cholera, previously unrecognized in Haiti, spread through the country in the fall of 2010. An analysis was performed to understand the epidemiological characteristics, clinical management, and risk factors for disease severity in a population seen at the GHESKIO Cholera Treatment Center in Port-au-Prince. A comprehensive review of the medical records of patients admitted during the period of October 28, 2010-July 10, 2011 was conducted. Disease severity on admission was directly correlated with older age, more prolonged length of stay, and presentation during the two epidemic waves seen in the observation period. Although there was a high seroprevalence of human immunodeficiency virus (HIV), severity of cholera was not greater with HIV infection. This study documents the correlation of cholera waves with rainfall and its reduction in settings with improved sanitary conditions and potable water when newly introduced cholera affects all ages equally so that interventions must be directed throughout the population.

  1. Postural instability and gait are associated with severity and prognosis of Parkinson disease.

    Science.gov (United States)

    van der Heeden, Jorine F; Marinus, Johan; Martinez-Martin, Pablo; Rodriguez-Blazquez, Carmen; Geraedts, Victor J; van Hilten, Jacobus J

    2016-06-14

    Differences in disease progression in Parkinson disease (PD) have variously been attributed to 2 motor subtypes: tremor-dominant (TD) and postural instability and gait difficulty (PIGD)-dominant (PG). We evaluated the role of these phenotypic variants in severity and progression of nondopaminergic manifestations of PD and motor complications. Linear mixed models were applied to data from the Profiling Parkinson's disease (PROPARK) cohort (n = 396) to evaluate the effect of motor subtype on severity and progression of cognitive impairment (Scales for Outcomes in Parkinson's disease [SCOPA]-Cognition [SCOPA-COG]), depression (Hospital Anxiety and Depression Scale [HADS]), autonomic dysfunction (SCOPA-Autonomic [SCOPA-AUT]), excessive daytime sleepiness, psychotic symptoms (SCOPA-Psychiatric Complications [SCOPA-PC]), and motor complications. In first analyses, subtype as determined by the commonly used ratio of tremor over PIGD score was entered as a factor, whereas in second analyses separate tremor and PIGD scores were used. Results were verified in an independent cohort (Estudio Longitudinal de Pacientes con Enfermedad de Parkinson [ELEP]; n = 365). The first analyses showed that PG subtype patients had worse SCOPA-COG, HADS, SCOPA-AUT, SCOPA-PC, and motor complications scores, and exhibited faster progression on the SCOPA-COG. The second analyses showed that only higher PIGD scores were associated with worse scores for these variables; tremor score was not associated with severity or progression of any symptom. Analyses in the independent cohort yielded similar results. In contrast to PIGD, which consistently was associated with greater severity of nondopaminergic symptoms, there was no evidence of a benign effect of tremor. Our findings do not support the use of the TD subtype as a prognostic trait in PD. The results showed that severity of PIGD is a useful indicator of severity and prognosis in PD by itself. © 2016 American Academy of Neurology.

  2. Severe hepatocytolisis syndrome - a challenge in medical therapy of Cushing’s disease

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    Valea Ana

    2015-08-01

    Full Text Available Introduction Cushing’s disease is a rare endocrine disorder characterized by persistent hypercortisolism due to excessive, autonomous ACTH secretion by a pituitary adenoma. Transsphenoidal adenomectomy is the main therapeutic option in Cushing’s disease. When imaging studies are unable to demonstrate an obvious pituitary mass complete tumor resection is difficult and often encumbered by risk of relapse. Medical therapy is a second-line option or the first-line treatment for patients with high surgical risk, incomplete surgical resection or relapse. Rarely classic clinical manifestations limit the selection of medical therapy for Cushing’s disease. Case presentation We present the case of a male patient with Cushing’s disease complicated with diabetes mellitus and severe hepatocytolisis syndrome with no visible pituitary adenoma on MRI studies. In the absence of technical equipment petrosal sinus sampling could not be performed in order to improve surgery outcome

  3. The neuromuscular differential diagnosis of joint hypermobility.

    Science.gov (United States)

    Donkervoort, S; Bonnemann, C G; Loeys, B; Jungbluth, H; Voermans, N C

    2015-03-01

    Joint hypermobility is the defining feature of various inherited connective tissue disorders such as Marfan syndrome and various types of Ehlers-Danlos syndrome and these will generally be the first conditions to be considered by geneticists and pediatricians in the differential diagnosis of a patient presenting with such findings. However, several congenital and adult-onset inherited myopathies also present with joint hypermobility in the context of often only mild-to-moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. © 2015 Wiley Periodicals, Inc.

  4. Severe bronchial asthma in children: a review of novel biomarkers used as predictors of the disease

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    Uwaezuoke SN

    2018-01-01

    Full Text Available Samuel N Uwaezuoke, Adaeze C Ayuk, Joy N Eze Department of Pediatrics, University of Nigeria Teaching Hospital, Ituku-Ozalla, Nigeria Abstract: Severe asthma or therapy-resistant asthma in children is a heterogeneous disease that affects all age-groups. Given its heterogeneity, precision in diagnosis and treatment has become imperative, in order to achieve better outcomes. If one is thus able to identify specific patient phenotypes and endotypes using the appropriate biomarkers, it will assist in providing the patient with more personalized and appropriate treatment. However, there appears to be a huge diagnostic gap in severe asthma, as there is no single test yet that accurately determines disease phenotype. In this paper, we review the published literature on some of these biomarkers and their possible role in bridging this diagnostic gap. We also highlight the cellular and molecular mechanisms involved in severe asthma, in order to show the basis for the novel biomarkers. Some markers useful for monitoring therapy and assessing airway remodeling in the disease are also discussed. A review of the literature was conducted with PubMed to gather baseline data on the subject. The literature search extended to articles published within the last 40 years. Although biomarkers specific to different severe asthma phenotypes have been identified, progress in their utility remains slow, because of several disease mechanisms, the variation of biomarkers at different levels of inflammation, changes in relying on one test over time (eg, from sputum eosinophilia to blood eosinophilia, and the degree of invasive tests required to collect biomarkers, which limits their applicability in clinical settings. In conclusion, several biomarkers remain useful in recognizing various asthma phenotypes. However, due to disease heterogeneity, identification and utilization of ideal and defined biomarkers in severe asthma are still inconclusive. The development of novel

  5. Severity of chronic Lyme disease compared to other chronic conditions: a quality of life survey

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    Lorraine Johnson

    2014-03-01

    Full Text Available Overview. The Centers for Disease Control and Prevention (CDC health-related quality of life (HRQoL indicators are widely used in the general population to determine the burden of disease, identify health needs, and direct public health policy. These indicators also allow the burden of illness to be compared across different diseases. Although Lyme disease has recently been acknowledged as a major health threat in the USA with more than 300,000 new cases per year, no comprehensive assessment of the health burden of this tickborne disease is available. This study assesses the HRQoL of patients with chronic Lyme disease (CLD and compares the severity of CLD to other chronic conditions.Methods. Of 5,357 subjects who responded to an online survey, 3,090 were selected for the study. Respondents were characterized as having CLD if they were clinically diagnosed with Lyme disease and had persisting symptoms lasting more than 6 months following antibiotic treatment. HRQoL of CLD patients was assessed using the CDC 9-item metric. The HRQoL analysis for CLD was compared to published analyses for the general population and other chronic illnesses using standard statistical methods.Results. Compared to the general population and patients with other chronic diseases reviewed here, patients with CLD reported significantly lower health quality status, more bad mental and physical health days, a significant symptom disease burden, and greater activity limitations. They also reported impairment in their ability to work, increased utilization of healthcare services, and greater out of pocket medical costs.Conclusions. CLD patients have significantly impaired HRQoL and greater healthcare utilization compared to the general population and patients with other chronic diseases. The heavy burden of illness associated with CLD highlights the need for earlier diagnosis and innovative treatment approaches that may reduce the burden of illness and concomitant costs posed

  6. Severity of chronic Lyme disease compared to other chronic conditions: a quality of life survey

    Science.gov (United States)

    Johnson, Lorraine; Wilcox, Spencer; Mankoff, Jennifer

    2014-01-01

    Overview. The Centers for Disease Control and Prevention (CDC) health-related quality of life (HRQoL) indicators are widely used in the general population to determine the burden of disease, identify health needs, and direct public health policy. These indicators also allow the burden of illness to be compared across different diseases. Although Lyme disease has recently been acknowledged as a major health threat in the USA with more than 300,000 new cases per year, no comprehensive assessment of the health burden of this tickborne disease is available. This study assesses the HRQoL of patients with chronic Lyme disease (CLD) and compares the severity of CLD to other chronic conditions. Methods. Of 5,357 subjects who responded to an online survey, 3,090 were selected for the study. Respondents were characterized as having CLD if they were clinically diagnosed with Lyme disease and had persisting symptoms lasting more than 6 months following antibiotic treatment. HRQoL of CLD patients was assessed using the CDC 9-item metric. The HRQoL analysis for CLD was compared to published analyses for the general population and other chronic illnesses using standard statistical methods. Results. Compared to the general population and patients with other chronic diseases reviewed here, patients with CLD reported significantly lower health quality status, more bad mental and physical health days, a significant symptom disease burden, and greater activity limitations. They also reported impairment in their ability to work, increased utilization of healthcare services, and greater out of pocket medical costs. Conclusions. CLD patients have significantly impaired HRQoL and greater healthcare utilization compared to the general population and patients with other chronic diseases. The heavy burden of illness associated with CLD highlights the need for earlier diagnosis and innovative treatment approaches that may reduce the burden of illness and concomitant costs posed by this

  7. Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders.

    Science.gov (United States)

    Camacho, A; Esteban, J; Paradas, C

    A thorough knowledge of the socioeconomic scope of neuromuscular disease is essential for managing resources and raising social awareness. Our group reviewed current data on the epidemiology, mortality and dependence rates, and socioeconomic impact of amyotrophic lateral sclerosis and neuromuscular diseases in Spain. We also recorded how neurological care for these patients is organised. Neuromuscular disorders are a very heterogeneous group of diseases, and some are very rare. These disorders account for between 2.8% and 18% of the total motives for a neurological consultation. In Spain, prevalence and incidence figures for amyotrophic lateral sclerosis are similar to those in other countries; however, figures for patients with other neuromuscular diseases are not known. Since the diseases are chronic, progressive, and debilitating, they cause considerable disability and dependence, which in turn directly affects healthcare and social costs associated with the disease. The costs generated by one patient with amyotrophic lateral sclerosis or Duchenne disease have been calculated at about 50 000 euros per year. Neuromuscular disease shows aetiological, diagnostic, and prognostic complexity, and it requires multidisciplinary management. Follow-up for these patients should be entrusted to specialised units. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Severity of Airflow Obstruction in Chronic Obstructive Pulmonary Disease (COPD): Proposal for a New Classification.

    Science.gov (United States)

    Coton, Sonia; Vollmer, William M; Bateman, Eric; Marks, Guy B; Tan, Wan; Mejza, Filip; Juvekar, Sanjay; Janson, Christer; Mortimer, Kevin; P A, Mahesh; Buist, A Sonia; Burney, Peter G J

    2017-10-01

    Current classifications of Chronic Obstructive Pulmonary Disease (COPD) severity are complex and do not grade levels of obstruction. Obstruction is a simpler construct and independent of ethnicity. We constructed an index of obstruction severity based on the FEV 1 /FVC ratio, with cut-points dividing the Burden of Obstructive Lung Disease (BOLD) study population into four similarly sized strata to those created by the GOLD criteria that uses FEV 1 . We measured the agreement between classifications and the validity of the FEV 1 -based classification in identifying the level of obstruction as defined by the new groupings. We compared the strengths of association of each classification with quality of life (QoL), MRC dyspnoea score and the self-reported exacerbation rate. Agreement between classifications was only fair. FEV 1 -based criteria for moderate COPD identified only 79% of those with moderate obstruction and misclassified half of the participants with mild obstruction as having more severe COPD. Both scales were equally strongly associated with QoL, exertional dyspnoea and respiratory exacerbations. Severity assessed using the FEV 1 /FVC ratio is only in moderate agreement with the severity assessed using FEV 1 but is equally strongly associated with other outcomes. Severity assessed using the FEV 1 /FVC ratio is likely to be independent of ethnicity.

  9. The Correlation of CD206, CD209, and Disease Severity in Behçet’s Disease with Arthritis

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    Bunsoon Choi

    2017-01-01

    Full Text Available The purpose of this study was to clarify the role of pattern recognition receptors in Behçet’s disease (BD. The frequencies of several pattern recognition receptors (CD11b, CD11c, CD32, CD206, CD209, and dectin-1 were analyzed in patients with BD by flow cytometry, and cytokine levels, interleukin- (IL- 18, IL-23, and IL-17A, were compared in plasma. The analysis was performed in active (n=13 and inactive (n=13 stages of BD patients. Rheumatoid arthritis patients (n=19, as a disease control, and healthy control (HC (n=19 were enrolled. The frequencies of CD11b+ and CD32+ cells were significantly increased in active BD patients compared to HC. Disease severity score was correlated to CD11c+, CD206+, and CD209+ in whole leukocytes and CD11b+, CD11c+, CD206+, CD209+, and Dectin-1+ in granulocytes. The plasma levels of IL-17A were significantly different between HC and active BD. IL-18 showed significant difference between active and inactive BD patients. From this study, we concluded the expressions of several pattern recognition receptors were correlated to the joint symptoms of BD.

  10. A hospital-based survey of patients with severe valvular heart disease in China.

    Science.gov (United States)

    Hu, Po; Liu, Xian-Bao; Liang, Jie; Zhu, Qi-Feng; Pu, Chao-Xia; Tang, Meng-Yao; Wang, Jian-An

    2017-03-15

    Due to increasing aging, the epidemiology of VHD may have changed in China. This study aimed to provide contemporary information on the prevalence, distribution patterns, and etiology of severe VHD in China. This was a retrospective survey at Second Affiliated Hospital of Zhejiang University, which included all consecutive patients between 2010 and 2015. In all, 139,496 patients were enrolled. Among severe valve diseases, MR was the most frequent (n=946, 0.68%) followed by MS (n=524, 0.38%), AS (n=392, 0.28%), and AR (n=371, 0.27%). Severe MR and AS prevalence rates increased strikingly with age. Rheumatic heart disease had an prevalence of 1.56% (n=2179), and remained one of the most common causes of severe VHD in patients younger than 65years old (99.5% of MS with rheumatic; 27.6% of MR with rheumatic; 25.7% of AS with rheumatic; 31.6% of AR with rheumatic). Aortic valve calcification was the predominant AS etiology, and its prevalence greatly increased with age. In severe AR, rheumatic fever was the most common etiology in patients below 65; in those above 65, etiology was mostly degenerative. In severe primary MR, mitral valve prolapse was the most common cause. Prevalence of secondary MR increased with age, from 16.4% in 18-44years old to 51.7% in individuals ≥75. Severe valvular diseases are very common; rheumatic fever and degenerative valvular changes remain predominant causes in patients below 65 and older ones, respectively. Young adults present mainly with primary MR, while secondary MR is more common in elderly ones. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Diagnosis of severe and extensive coronary artery disease using gated myocardial perfusion SPECT

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    Cho, Ihn Ho; Lee, Hyoung Woo; Won, Kyu Chang; Park, Jong Sun; Sin, Dog Gu; Kim, Young Jo; Shim, Bong Sub [College of Medicine, Yeungnam Univ., Taegu (Korea, Republic of)

    1999-07-01

    Left ventricular volumes and ejection fractions constitute important informations in the diagnosis and prognosis of cardiac disease. Aim of the study is to verify if the assessment of left ventricular function and perfusion together by gated myocardial perfusion SPECT is useful for diagnosing severe and extensive CAD. We examined 27 consecutive patients (17 males and 10 females, mean age : 60.1 years) who underwent two day rest/stress Tc-99m MIBI gated SPECT. Stress was done with adenosine. Post-stress gated SPECT was done at 1 hour after an injection of Tc-99m MIBI (740 MBq). All patients underwent coronary angiography after gated SPECT within 1 month. We divided them three groups with single vessel disease, double vessel disease and triple vessel disease or severe proximal left coronary artery stenosis. Extent of Defect (ED), Reversibility of Extent (RE), Severity of Defect (SD) and Severity of Reversibility (SR) were calculated by CEqual program. Post-stress LVEF, Rest LVEF, End-diastolic volume(EDV), End-systolic volume(ESV), Transient Ischemic Dilation (TID) of left ventricle (Post-stress EDV/Rest EDV) were calculated using gated SPECT quantification program. Left ventricle is divided with 18 segments and wall motion was scored (normal=0, mild hypokinesia =1, severe hypokinesia =2, akinesia =3 and dyskinesia =4), and then post-stress summed wall motion score was calculated. Post-stress summed wall motion score and post-stress LVEF were significant differences between three groups ( P <0.01). Extent of defect, Extent of reversibility, Severity of defect and severity of reversibility in Polar map were significant differences between three groups ( P <0.01). Post-stress Transient left ventricular dilatation and test LVEF were not significant differences between three groups ( P > 0.05). The gated SPECT pattern (low post-stress LVEF and post-stress summed wall motion score) add important diagnostic information over ungated perfusion data (high ED, ER and SR and

  12. Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations.

    Science.gov (United States)

    Gkourogianni, Alexandra; Sinaii, Ninet; Jackson, Sharon H; Karageorgiadis, Alexander S; Lyssikatos, Charalampos; Belyavskaya, Elena; Keil, Margaret F; Zilbermint, Mihail; Chittiboina, Prashant; Stratakis, Constantine A; Lodish, Maya B

    2017-08-01

    BackgroundLittle is known about the contribution of racial and socioeconomic disparities to severity and outcomes in children with Cushing disease (CD).MethodsA total of 129 children with CD, 45 Hispanic/Latino or African-American (HI/AA) and 84 non-Hispanic White (non-HW), were included in this study. A 10-point index for rating severity (CD severity) incorporated the degree of hypercortisolemia, glucose tolerance, hypertension, anthropomorphic measurements, disease duration, and tumor characteristics. Race, ethnicity, age, gender, local obesity prevalence, estimated median income, and access to care were assessed in regression analyses of CD severity.ResultsThe mean CD severity in the HI/AA group was worse than that in the non-HW group (4.9±2.0 vs. 4.1±1.9, P=0.023); driving factors included higher cortisol levels and larger tumor size. Multiple regression models confirmed that race (P=0.027) and older age (P=0.014) were the most important predictors of worse CD severity. When followed up a median of 2.3 years after surgery, the relative risk for persistent CD combined with recurrence was 2.8 times higher in the HI/AA group compared with that in the non-HW group (95% confidence interval: 1.2-6.5).ConclusionOur data show that the driving forces for the discrepancy in severity of CD are older age and race/ethnicity. Importantly, the risk for persistent and recurrent CD was higher in minority children.

  13. Longitudinal peripheral blood transcriptional analysis of a patient with severe Ebola virus disease.

    Science.gov (United States)

    Kash, John C; Walters, Kathie-Anne; Kindrachuk, Jason; Baxter, David; Scherler, Kelsey; Janosko, Krisztina B; Adams, Rick D; Herbert, Andrew S; James, Rebekah M; Stonier, Spencer W; Memoli, Matthew J; Dye, John M; Davey, Richard T; Chertow, Daniel S; Taubenberger, Jeffery K

    2017-04-12

    The 2013-2015 outbreak of Ebola virus disease in Guinea, Liberia, and Sierra Leone was unprecedented in the number of documented cases, but there have been few published reports on immune responses in clinical cases and their relationships with the course of illness and severity of Ebola virus disease. Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, vomiting, abdominal pain, and hemorrhage. Although experimental treatments are in development, there are no current U.S. Food and Drug Administration-approved vaccines or therapies. We report a detailed study of host gene expression as measured by microarray in daily peripheral blood samples collected from a patient with severe Ebola virus disease. This individual was provided with supportive care without experimental therapies at the National Institutes of Health Clinical Center from before onset of critical illness to recovery. Pearson analysis of daily gene expression signatures revealed marked gene expression changes in peripheral blood leukocytes that correlated with changes in serum and peripheral blood leukocytes, viral load, antibody responses, coagulopathy, multiple organ dysfunction, and then recovery. This study revealed marked shifts in immune and antiviral responses that preceded changes in medical condition, indicating that clearance of replicating Ebola virus from peripheral blood leukocytes is likely important for systemic viral clearance. Copyright © 2017, American Association for the Advancement of Science.

  14. White-Nose Syndrome Disease Severity and a Comparison of Diagnostic Methods.

    Science.gov (United States)

    McGuire, Liam P; Turner, James M; Warnecke, Lisa; McGregor, Glenna; Bollinger, Trent K; Misra, Vikram; Foster, Jeffrey T; Frick, Winifred F; Kilpatrick, A Marm; Willis, Craig K R

    2016-03-01

    White-nose syndrome is caused by the fungus Pseudogymnoascus destructans and has killed millions of hibernating bats in North America but the pathophysiology of the disease remains poorly understood. Our objectives were to (1) assess non-destructive diagnostic methods for P. destructans infection compared to histopathology, the current gold-standard, and (2) to evaluate potential metrics of disease severity. We used data from three captive inoculation experiments involving 181 little brown bats (Myotis lucifugus) to compare histopathology, quantitative PCR (qPCR), and ultraviolet fluorescence as diagnostic methods of P. destructans infection. To assess disease severity, we considered two histology metrics (wing area with fungal hyphae, area of dermal necrosis), P. destructans fungal load (qPCR), ultraviolet fluorescence, and blood chemistry (hematocrit, sodium, glucose, pCO2, and bicarbonate). Quantitative PCR was most effective for early detection of P. destructans, while all three methods were comparable in severe infections. Correlations among hyphae and necrosis scores, qPCR, ultraviolet fluorescence, blood chemistry, and hibernation duration indicate a multi-stage pattern of disease. Disruptions of homeostasis occurred rapidly in late hibernation. Our results provide valuable information about the use of non-destructive techniques for monitoring, and provide novel insight into the pathophysiology of white-nose syndrome, with implications for developing and implementing potential mitigation strategies.

  15. [Clinical characteristic of patients with acute kidney injury complicated severe cardio-vascular diseases].

    Science.gov (United States)

    Wróbel, Paweł; Wyrwicz-Zielińska, Grażyna; Krzysztonek-Weber, Izabela; Sułowicz, Władysław

    2016-01-01

    Patients with cardiovascular diseases are a group of increased risk of acute kidney injury (AKI). Mortality in this group of patients with AKI, especially treated in intensive care units, is very high. The aim of this study was to evaluate the clinical characteristic of patients with AKI complicated severe cardiovascular diseases. Retrospective evaluation of 246 questionnaire of patients with AKI in the course of severe cardiovascular diseases treated in the wards of nephrological profile from the malopolska and podkarpackie voivodships in the years 2000-2011 was performed. The group of patients consisted of 157 men and 89 women, with mean age 67.9 ± 14.8 years. The most common cause of AKI were: acute decompensated heart failure--24 (9.8%), chronic decompensated heart failure--94 (38.2%), cardiac arrest--29 (11.8%), myocardial infarction--48 (19.5%), CABG--12 (4.9%), cardiac valve implantation--14 (5.7), heart transplantation--4 (1.6%) and aortic aneurysm--21 (8.5%). Age distribution of patients with AKI revealed that most numerous group had 71-80 years. The most of patients (95.9%) with AKI were treated with hemodialysis. The mortality rate in the study group was very high (69.5%). Recovery of renal function was observed in 39 (27.3%) of patients. Signs of kidney disease before AKI was noted in 116 (47.2%) of patients. Patients with severe cardiovascular complications and AKI had high mortality rate instead of performed hemodialysis treatment.

  16. Radiographic study of severe Influenza-A (H1N1) disease in children

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    Zhao Cailei, E-mail: zhaocailei197866@163.com [Department of Radiology, Shenzhen Children' s Hospital, No. 7019, Yitian Road, Futian District, Shenzhen 518026 (China); Gan Yungen, E-mail: mickeyym@yahoo.cn [Department of Radiology, Shenzhen Children' s Hospital, No. 7019, Yitian Road, Futian District, Shenzhen 518026 (China); Sun Jie, E-mail: sunxixi@21cn.com [Department of Radiology, Shenzhen Children' s Hospital, No. 7019, Yitian Road, Futian District, Shenzhen 518026 (China)

    2011-09-15

    Objective: To characterize the radiographic findings of pediatric patients with severe Influenza-A (H1N1) disease. Methods: A retrospective study of data from chest X-ray, CT and MRI exam of 29 pediatric patients treated in intensive care unit for severe Influenza-A (H1N1) disease. Results: Disease developed quickly at early stage. Here are four types of radiographic findings. The disease continued to progress for 2-3 days and X-ray showed that all 29 patients had increased solid lesions with the existence of interstitial lesions. Four days later, all lung lesions showed absorption to certain degree. Fifteen days later, X-ray and CT showed complete or significant absorption in 19 cases (85.5%); delayed recovery was identified in 8 cases (27.6%), pulmonary fibrosis was found in 3 cases (10.3%), and 3 patients (10.3%) died. But the latter identified more lesions. Cranial CT and MRI were performed for 8 patients who had neurological symptoms. Of them, 3 cases (10.3%) were abnormal, showed symmetrical long T1 and T2 signal shadow in bilateral thalamus and longer T1 and T2 signals in the between. 3 cases had autopsy completed. Conclusion: The severe Influenza-A (H1N1) among children progression was generally rapid in the first 3 days. The overall radiographic findings are similar to acute respiratory distress syndrome (ARDS). A small portion of the patients occurred acute necrotizing encephalopathy and plastic bronchitis.

  17. Radiographic study of severe Influenza-A (H1N1) disease in children

    International Nuclear Information System (INIS)

    Zhao Cailei; Gan Yungen; Sun Jie

    2011-01-01

    Objective: To characterize the radiographic findings of pediatric patients with severe Influenza-A (H1N1) disease. Methods: A retrospective study of data from chest X-ray, CT and MRI exam of 29 pediatric patients treated in intensive care unit for severe Influenza-A (H1N1) disease. Results: Disease developed quickly at early stage. Here are four types of radiographic findings. The disease continued to progress for 2-3 days and X-ray showed that all 29 patients had increased solid lesions with the existence of interstitial lesions. Four days later, all lung lesions showed absorption to certain degree. Fifteen days later, X-ray and CT showed complete or significant absorption in 19 cases (85.5%); delayed recovery was identified in 8 cases (27.6%), pulmonary fibrosis was found in 3 cases (10.3%), and 3 patients (10.3%) died. But the latter identified more lesions. Cranial CT and MRI were performed for 8 patients who had neurological symptoms. Of them, 3 cases (10.3%) were abnormal, showed symmetrical long T1 and T2 signal shadow in bilateral thalamus and longer T1 and T2 signals in the between. 3 cases had autopsy completed. Conclusion: The severe Influenza-A (H1N1) among children progression was generally rapid in the first 3 days. The overall radiographic findings are similar to acute respiratory distress syndrome (ARDS). A small portion of the patients occurred acute necrotizing encephalopathy and plastic bronchitis.

  18. What predicts depression in cardiac patients: sociodemographic factors, disease severity or theoretical vulnerabilities?

    Science.gov (United States)

    Doyle, F; McGee, H M; Conroy, R M; Delaney, M

    2011-05-01

    Depression is associated with increased cardiovascular risk in acute coronary syndrome (ACS) patients, but some argue that elevated depression is actually a marker of cardiovascular disease severity. Therefore, disease indices should better predict depression than established theoretical causes of depression (interpersonal life events, reinforcing events, cognitive distortions, type D personality). However, little theory-based research has been conducted in this area. In a cross-sectional design, ACS patients (n = 336) completed questionnaires assessing depression and psychosocial vulnerabilities. Nested logistic regression assessed the relative contribution of demographic or vulnerability factors, or disease indices or vulnerabilities to depression. In multivariate analysis, all vulnerabilities were independent significant predictors of depression (scoring above threshold on any scale, 48%). Demographic variables accounted for vulnerabilities accounting for significantly more (pseudo R² = 0.16, χ²(change) = 150.9, df = 4, p vulnerabilities increased the overall variance explained to 22% (pseudo R² = 0.22, χ² = 58.6, df = 4, p vulnerabilities predicted depression status better than did either demographic or disease indices. The presence of these proximal causes of depression suggests that depression in ACS patients is not simply a result of cardiovascular disease severity.

  19. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders

    Directory of Open Access Journals (Sweden)

    Titarsolej PJ

    2008-09-01

    Full Text Available Abstract Background Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a progressive scoliosis. A severe scoliosis compromises respiratory function and makes sitting more difficult. Spinal surgery is considered the primary treatment option for correcting severe scoliosis in neuromuscular disorders. Surgery in this population requires a multidisciplinary approach, careful planning, dedicated surgical procedures, and specialized after care. Methods The guideline is based on scientific evidence and expert opinions. A multidisciplinary working group representing experts from all relevant specialties performed the research. A literature search was conducted to collect scientific evidence in answer to specific questions posed by the working group. Literature was classified according to the level of evidence. Results For most aspects of the treatment scientific evidence is scarce and only low level cohort studies were found. Nevertheless, a high degree of consensus was reached about the management of patients with scoliosis in neuromuscular disorders. This was translated into a set of recommendations, which are now officially accepted as a general guideline in the Netherlands. Conclusion In order to optimize the treatment for scoliosis in neuromuscular disorders a Dutch guideline has been composed. This evidence-based, multidisciplinary guideline addresses conservative treatment, the preoperative, perioperative, and postoperative care of scoliosis in neuromuscular disorders.

  20. Generation of functional neuromuscular junctions from human pluripotent stem cell lines

    Directory of Open Access Journals (Sweden)

    Katja ePuttonen

    2015-12-01

    Full Text Available Several neuromuscular diseases involve dysfunction of neuromuscular junctions (NMJs, yet there are no patient-specific human models for electrophysiological characterization of NMJ. We seeded cells of neurally-induced embryoid body-like spheres derived from induced pluripotent stem cell (iPSC or embryonic stem cell (ESC lines as monolayers without basic fibroblast factor (bFGF and observed differentiation of neuronal as well as spontaneously contracting, multinucleated skeletal myotubes. The myotubes showed striation, immunoreactivity for myosin heavy chain, actin bundles typical for myo-oriented cells, and generated spontaneous and evoked action potentials (APs. The myogenic differentiation was associated with expression of MyoD1, myogenin and type I ryanodine receptor. Neurons formed end plate like structures with strong binding of α-bungarotoxin, a marker of nicotinic acetylcholine receptors highly expressed in the postsynaptic membrane of NMJs, and expressed SMI-32, a motoneuron marker, as well as SV2, a marker for synapses. Pharmacological stimulation of cholinergic receptors resulted in strong depolarization of myotube membrane and raised Ca2+ concentration in sarcoplasm, while electrical stimulation evoked Ca2+ transients in myotubes. Stimulation of motoneurons with N-Methyl-D-aspartate resulted in reproducible APs in myotubes and end plates displayed typical MEPs and tonic activity depolarizing myotubes of about 10 mV. We conclude that simultaneous differentiation of neurons and myotubes from patient-specific iPSCs or ESCs results also in the development of functional NMJs. Our human model of NMJ may serve as an important tool to investigate normal development, mechanisms of diseases and novel drug targets involving NMJ dysfunction and degeneration.

  1. Asymptomatic carotid artery stenosis in patients with severe peripheral vascular diseases

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    Rasoul Mirsharifi

    2009-04-01

    Full Text Available

    • BACKGROUND: The prevalence of carotid artery stenosis (CAS in the  eneral population is not high enough to justify screening programs. This study was done to determine the prevalence of asymptomatic carotid artery stenosis (ACAS among patients with severe peripheral vascular disease (PVD.
    • METHODS: Between March 2005 and February 2006, 54 consecutive  atients with severe PVD admitted at a vascular surgery unit and underwent carotid duplex scanning in a prospective study. A  uestionnaire was used to collect data concerning known risk factors. Significant CAS was defined as a stenosis of 70% or greater.
    • RESULTS: The mean age was 62.5 years (51-72. Out of 54 patients, 2 (3.7% had an occluded internal carotid artery. Significant CAS was found in 9 (16.7% and its presence was correlated with diabetes, hypertension, hypercholesterolemia, hypertriglyceridemia, coronary artery disease, severity of symptoms, ankle-brachial index, and carotid bruit. On multivariate analysis, only hypercholesterolemia and carotid bruit seemed to have independent influence.
    • CONCLUSION: The prevalence of significant ACAS is higher among  atients with severe PVD. This patient population may indicate a  uitable subgroup for screening of ACAS, especially when hypercholesterolemia and carotid bruit are present.
    • KEYWORDS: Carotid artery stenosis, duplex ultrasound scanning, peripheral vascular disease, carotid endarterectomy,
    • cerebrovascular accident.

  2. Crystal-proven Gout and Characteristic Gout Severity Factors are Associated with Cardiovascular Disease.

    Science.gov (United States)

    Disveld, Iris J M; Fransen, Jaap; Rongen, Gerard A; Kienhorst, Laura B E; Zoakman, Sahel; Janssens, Hein J E M; Janssen, Matthijs

    2018-04-15

    Our aim was to examine the prevalence of cardiovascular disease (CVD) in patients with crystal-proven gout compared to arthritis controls. Further, we analyzed the association between characteristic gout severity factors and CVD to provide further support for a pathogenetic relationship between gout and CVD. Patients with arthritis referred for diagnosis were consecutively included in the Gout Arnhem-Liemers cohort. Joint fluid analysis was performed in all referred patients; controls were negative for crystals. Patients' characteristics and different manifestations of CVD and gout severity factors (disease duration, attack frequency, tophi, affected joints, high serum urate acid level, joint damage) were collected. Gout patients were compared with controls for the prevalence of CVD. In addition, the association between characteristic gout severity factors and presence of CVD was analyzed. Data from 700 gout patients and 276 controls were collected. CVD was present in 47% (95% CI 44%-51%) and 24% (95% CI 19%-29%) of gout patients and controls, respectively. Corrected for confounders, gout was still strongly associated with an increased prevalence of CVD compared to controls (OR 3.39, 95% CI 2.37-4.84). In patients with gout, disease duration ≥ 2 years, oligo- or polyarthritis, serum urate acid > 0.55 mmol/l at presentation, and joint damage were independently (p patients with gout, characteristic gout severity factors were associated with CVD.

  3. Severe pandemic 2009 H1N1 influenza disease due to pathogenic immune complexes

    Science.gov (United States)

    Monsalvo, Ana Clara; Batalle, Juan P.; Lopez, M. Florencia; Krause, Jens C.; Klemenc, Jennifer; Zea, Johanna; Maskin, Bernardo; Bugna, Jimena; Rubinstein, Carlos; Aguilar, Leandro; Dalurzo, Liliana; Libster, Romina; Savy, Vilma; Baumeister, Elsa; Aguilar, Liliana; Cabral, Graciela; Font, Julia; Solari, Liliana; Weller, Kevin P.; Johnson, Joyce; Echavarria, Marcela; Edwards, Kathryn M.; Chappell, James D.; Crowe, James E.; Williams, John V.; Melendi, Guillermina A.; Polack, Fernando P.

    2010-01-01

    Pandemic influenza viruses often cause severe disease in middle-aged adults without preexistent co-morbidities. The mechanism of illness associated with severe disease in this age group is not well understood1–10. Here, we demonstrate preexisting serum antibody that cross-reacts with, but does not protect against 2009 H1N1 influenza virus in middle-aged adults. Non-protective antibody is associated with immune complex(IC)-mediated disease after infection. High titers of serum antibody of low avidity for H1-2009 antigen, and low avidity pulmonary ICs against the same protein were detected in severely ill patients. Moreover, C4d deposition - a sensitive marker of complement activation mediated by ICs- was present in lung sections of fatal cases. Archived lung sections from adults with confirmed fatal influenza 1957 H2N2 infection revealed a similar mechanism of illness. These observations provide a novel biological mechanism for the unusual age distribution of severe cases during influenza pandemics. PMID:21131958

  4. Is there any relationship between orthotic usage and functional activities in children with neuromuscular disorders?

    Science.gov (United States)

    Alemdaroğlu, İpek; Gür, Gozde; Bek, Nilgün; Yilmaz, Öznur T; Yakut, Yavuz; Uygur, Fatma; Karaduman, Ayşe

    2014-02-01

    Contractures of Achilles tendons and gastrocnemius muscle deteriorate the performance in daily living activities of patients with neuromuscular diseases. Ankle-foot orthoses help to prevent the progression of deformities and to obtain optimal position of the joints to support standing and walking. To investigate the relationship between orthotic usage and functional activities in pediatric patients with different neuromuscular diseases. Retrospective study. A total of 127 subjects' physical assessment forms were analyzed. Functional level, type of orthoses, falling frequencies, ankle joint range of motion, and timed performance tests were examined in two consecutive dates with an interval of 3 months. A total of 91 patients were using orthoses while 36 patients were not within assessment dates. A total of 64 of 91 (70.3%) patients were diagnosed with Duchenne muscular dystrophy. A total of 81 (89.0%) subjects were using plastic ankle-foot orthoses for positioning at nights and 10 (11%) were using different types of the orthoses (knee-ankle-foot orthoses, dynamic ankle-foot orthoses, and so on) for gait in the study group. Night ankle-foot orthoses were not found to be effective directly on functional performance in children with neuromuscular diseases, although they protect ankle from contractures and may help to correct gait and balance. This retrospective study shows that the positive effects of using an ankle-foot orthosis at night are not reflected in the functional performance of children with neuromuscular diseases. This may be due to the progressive deteriorating nature of the disease.

  5. OAS1: a multiple sclerosis susceptibility gene that influences disease severity.

    LENUS (Irish Health Repository)

    O'Brien, M

    2012-02-01

    BACKGROUND: Type 1 interferons upregulate oligoadenylate synthetase 1 (OAS1). A single nucleotide polymorphism (SNP) in exon 7 of OAS1 results in differential RNAseL enzyme activity, the A allele coding for a truncated form with low activity and the G conferring high activity. We hypothesized that OAS1 genotypes would influence both susceptibility to multiple sclerosis (MS) and disease activity with the AA genotype being overrepresented and the GG genotype underrepresented in relapsing-remitting MS (RRMS) with increased disease activity. METHODS: We examined OAS1 genotype distribution in 401 patients with MS, 394 healthy controls, and 178 patients with RRMS receiving interferon-beta (IFNbeta) assessed as 1) having no or minimal disease activity on IFNbeta, 2) having disease activity despite IFNbeta, and 3) 65 patients with RRMS with highly active disease. RESULTS: The OAS1 genotype distribution differed between patients with MS and controls (p = 0.000003), with lower frequency of GG homozygotes in patients with MS (6%) compared with controls (17%). In relation to disease severity, 34 (32%) patients with no or minimal disease activity on IFNbeta had the AA and 8 (8%) the GG genotype; of patients with disease activity despite IFNbeta, 27 (51%) were AA, while only 1 (2%) was GG (p = 0.03). Median time to first relapse on IFNbeta was 24 months in patients with RRMS with AA genotype and 33 months with AG or GG genotype (p = 0.04). The GG genotype was absent in 65 patients with highly active RRMS (p = 0.03). CONCLUSIONS: A functional OAS1 SNP, AA genotype, confers susceptibility to MS and the GG genotype may protect against increased disease activity.

  6. Chronic nutrient enrichment increases prevalence and severity of coral disease and bleaching.

    Science.gov (United States)

    Vega Thurber, Rebecca L; Burkepile, Deron E; Fuchs, Corinne; Shantz, Andrew A; McMinds, Ryan; Zaneveld, Jesse R

    2014-02-01

    Nutrient loading is one of the strongest drivers of marine habitat degradation. Yet, the link between nutrients and disease epizootics in marine organisms is often tenuous and supported only by correlative data. Here, we present experimental evidence that chronic nutrient exposure leads to increases in both disease prevalence and severity and coral bleaching in scleractinian corals, the major habitat-forming organisms in tropical reefs. Over 3 years, from June 2009 to June 2012, we continuously exposed areas of a coral reef to elevated levels of nitrogen and phosphorus. At the termination of the enrichment, we surveyed over 1200 scleractinian corals for signs of disease or bleaching. Siderastrea siderea corals within enrichment plots had a twofold increase in both the prevalence and severity of disease compared with corals in unenriched control plots. In addition, elevated nutrient loading increased coral bleaching; Agaricia spp. of corals exposed to nutrients suffered a 3.5-fold increase in bleaching frequency relative to control corals, providing empirical support for a hypothesized link between nutrient loading and bleaching-induced coral declines. However, 1 year later, after nutrient enrichment had been terminated for 10 months, there were no differences in coral disease or coral bleaching prevalence between the previously enriched and control treatments. Given that our experimental enrichments were well within the ranges of ambient nutrient concentrations found on many degraded reefs worldwide, these data provide strong empirical support to the idea that coastal nutrient loading is one of the major factors contributing to the increasing levels of both coral disease and coral bleaching. Yet, these data also suggest that simple improvements to water quality may be an effective way to mitigate some coral disease epizootics and the corresponding loss of coral cover in the future. © 2013 John Wiley & Sons Ltd.

  7. Growth Hormone and Disease Severity in Early Stage of Multiple Sclerosis

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    M. Gironi

    2013-01-01

    Full Text Available Evidence suggests that neurohormones such as GH and IGF-I are involved in the neuroreparative processes in multiple sclerosis (MS. GH and IGF-I blood levels in naïve MS patients with different disease courses were investigated in this study. Serum GH and IGF-I in untreated MS patients (n=64, healthy controls (HC, n=62, and patients affected by other neurological diseases (OND, n=46 were evaluated with a solid-phase-enzyme-labeled-chemiluminescent-immunometric assay. No differences were detected in GH across MS, OND, and HC (MS=0.87±1.32 ng/mL; OND=1.66±3.7; and HC=1.69±3.35; P=0.858 when considering gender, disease duration, and disease course. However, GH was lower (P=0.007 in patients with more severe disease (expanded disability scale score, EDSS≥4.0 compared with milder forms (EDSS<4. IGF-I l did not differ across the 3 groups (P=0.160, as far as concern disease course, disability, and gender were. Lower IGF-I levels were detected in subjects older than 50 years compared to younger ones for all 3 groups. Lower GH was detected in patients with more severe MS, and age was confirmed as the main factor driving IGF-I levels in all subjects. These findings, relying on the natural course of the disease, could help in shedding lights on the mechanisms involved in autoreparative failure associated with poorer prognosis in MS.

  8. Serum Homocysteine Level in Parkinson's Disease and Its Association with Duration, Cardinal Manifestation, and Severity of Disease.

    Science.gov (United States)

    Saadat, Payam; Ahmadi Ahangar, Alijan; Samaei, Seyed Ehsan; Firozjaie, Alireza; Abbaspour, Fatemeh; Khafri, Sorrayya; Khoddami, Azam

    2018-01-01

    Due to the high prevalence of Parkinson's disease (PD) in the elderly, a large financial burden is imposed on the families and health systems of countries in addition to the problems related to the mobility impairment caused by the disease for the patients. Studies on controversial issues in this disease are taken into consideration, and one of these cases is the role of serum homocysteine level in Parkinson's patients. In this study, the serum level of homocysteine and its association with various variables in relation to this disease was compared with healthy individuals. In this study, 100 patients with PD and 100 healthy individuals as control group were investigated. Serum homocysteine level and demographic and clinical data were included in the checklist. Data were analyzed by SPSS version 23. In all tests, the significance level was below 0.05. The mean level of serum homocysteine in case and control groups was 14.93 ± 8.30 and 11.52 ± 2.86  µ mol/L, respectively (95% CI: 1.68; 5.14, P level, while 15 had high serum homocysteine level. In controls, the homocysteine level was 98 and 2, respectively ( P =0.002). In multivariate logistic regression analysis, serum homocysteine level higher than 20  µ mol/L was accompanied by 8.64-fold in Parkinson's disease involvement (95% CI: 1.92; 38.90, P =0.005). Increasing serum homocysteine level elevates the rate to having PD. Serum homocysteine levels did not have any relationship with the duration of the disease, type of cardinal manifestation, and the severity of Parkinson's disease.

  9. Serum Homocysteine Level in Parkinson’s Disease and Its Association with Duration, Cardinal Manifestation, and Severity of Disease

    Directory of Open Access Journals (Sweden)

    Payam Saadat

    2018-01-01

    Full Text Available Background and Purpose. Due to the high prevalence of Parkinson’s disease (PD in the elderly, a large financial burden is imposed on the families and health systems of countries in addition to the problems related to the mobility impairment caused by the disease for the patients. Studies on controversial issues in this disease are taken into consideration, and one of these cases is the role of serum homocysteine level in Parkinson’s patients. In this study, the serum level of homocysteine and its association with various variables in relation to this disease was compared with healthy individuals. Materials and Methods. In this study, 100 patients with PD and 100 healthy individuals as control group were investigated. Serum homocysteine level and demographic and clinical data were included in the checklist. Data were analyzed by SPSS version 23. In all tests, the significance level was below 0.05. Results. The mean level of serum homocysteine in case and control groups was 14.93 ± 8.30 and 11.52 ± 2.86 µmol/L, respectively (95% CI: 1.68; 5.14, P<0.001. In total patients, 85 had normal serum homocysteine level, while 15 had high serum homocysteine level. In controls, the homocysteine level was 98 and 2, respectively (P=0.002. In multivariate logistic regression analysis, serum homocysteine level higher than 20 µmol/L was accompanied by 8.64-fold in Parkinson’s disease involvement (95% CI: 1.92; 38.90, P=0.005. Conclusion. Increasing serum homocysteine level elevates the rate to having PD. Serum homocysteine levels did not have any relationship with the duration of the disease, type of cardinal manifestation, and the severity of Parkinson’s disease.

  10. Perceived exercise limitation in asthma: The role of disease severity, overweight, and physical activity in children.

    Science.gov (United States)

    Westergren, Thomas; Berntsen, Sveinung; Lødrup Carlsen, Karin C; Mowinckel, Petter; Håland, Geir; Fegran, Liv; Carlsen, Kai-Håkon

    2017-02-01

    Children with asthma may be less physically active than their healthy peers. We aimed to investigate whether perceived exercise limitation (EL) was associated with lung function or bronchial hyper-responsiveness (BHR), socioeconomic factors, prenatal smoking, overweight, allergic disease, asthma severity, or physical activity (PA). The 302 children with asthma from the 10-year examination of the Environment and Childhood Asthma birth cohort study underwent a clinical examination including perceived EL (structured interview of child and parent(s)), measure of overweight (body mass index by sex and age passing through 25 kg/m 2 or above at 18 years), exercise-induced bronchoconstriction (forced expiratory volume in one-second (FEV 1 ) pre- and post-exercise), methacholine bronchial challenge (severe BHR; provocative dose causing ≥20% decrease in FEV 1 ≤ 1 μmol), and asthma severity score (dose of controller medication and exacerbations last 12 months). Multivariate logistic regression analyses were conducted to assess associations with perceived EL. In the final model explaining 30.1%, asthma severity score (OR: 1.49, (1.32, 1.67)) and overweight (OR: 2.35 (1.14, 4.82)) only were significantly associated with perceived EL. Excluding asthma severity and allergic disease, severe BHR (OR: 2.82 (1.38, 5.76)) or maximal reduction in FEV 1 post-exercise (OR: 1.48 (1.10, 1.98)) and overweight (OR: 2.15 (1.13, 4.08) and 2.53 (1.27, 5.03)) explained 9.7% and 8.4% of perceived EL, respectively. Perceived EL in children with asthma was independently associated with asthma severity and overweight, the latter doubling the probability of perceived EL irrespectively of asthma severity, allergy status, socioeconomic factors, prenatal smoking, or PA. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Effects of disease severity and medication state on postural control asymmetry during challenging postural tasks in individuals with Parkinson's disease.

    Science.gov (United States)

    Barbieri, Fabio A; Polastri, Paula F; Baptista, André M; Lirani-Silva, Ellen; Simieli, Lucas; Orcioli-Silva, Diego; Beretta, Victor S; Gobbi, Lilian T B

    2016-04-01

    The aim of this study was to investigate the effects of disease severity and medication state on postural control asymmetry during challenging tasks in individuals with Parkinson's disease (PD). Nineteen people with PD and 11 neurologically healthy individuals performed three standing task conditions: bipedal standing, tandem and unipedal adapted standing; the individuals with PD performed the tasks in ON and OFF medication state. The participants with PD were distributed into 2 groups according to disease severity: unilateral group (n=8) and bilateral group (n=11). The two PD groups performed the evaluations both under and without the medication. Two force plates were used to analyze the posture. The symmetric index was calculated for various of center of pressure. ANOVA one-way (groups) and two-way (PD groups×medication), with repeated measures for medication, were calculated. For main effects of group, the bilateral group was more asymmetric than CG. For main effects of medication, only unipedal adapted standing presented effects of PD medication. There was PD groups×medication interaction. Under the effects of medication, the unilateral group presented lower asymmetry of RMS in anterior-posterior direction and area than the bilateral group in unipedal adapted standing. In addition, the unilateral group presented lower asymmetry of mean velocity, RMS in anterior-posterior direction and area in unipedal standing and area in tandem adapted standing after a medication dose. Postural control asymmetry during challenging postural tasks was dependent on disease severity and medication state in people with PD. The bilateral group presented higher postural control asymmetry than the control and unilateral groups in challenging postural tasks. Finally, the medication dose was able to reduce postural control asymmetry in the unilateral group during challenging postural tasks. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Gallstone disease is associated with more severe liver damage in patients with non-alcoholic fatty liver disease.

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    Anna Ludovica Fracanzani

    Full Text Available BACKGROUND: Nonalcoholic fatty liver disease (NAFLD and gallstone disease (GD are both highly prevalent in the general population and associated with obesity and insulin resistance. We aimed to evaluate the prevalence of GD in a cross sectional study of NAFLD patients and to define whether the presence of GD is associated with diabetes and predicts more severe liver disease. METHODOLOGY/PRINCIPAL FINDINGS: We merged databases of four Liver Units, comprising 524 consecutive biopsy-proven NAFLD (373 males observed between January 2003 and June 2010. GD was diagnosed in 108 (20%, and 313 cases (60% were classified by liver biopsy as nonalcoholic steatohepatitis (NASH. The GD subgroup was characterized by a significantly higher prevalence of females, prediabetes/diabetes, abdominal obesity and metabolic syndrome, older age, higher BMI, fasting glucose, HOMA-IR and lower ALT. The prevalence of GD progressively increased with advancing fibrosis and with the severity of necroinflammatory activity (p for trend  = 0.0001 and  = 0.01, respectively, without differences in the severity of steatosis. At multivariate analysis GD was associated with female gender (OR 1.37, 95% CI 1.04-1.8, age (OR 1.027, 95% CI1.003-1.05, fasting glucose (OR 1.21, 95% CI 1.10-1.33 and NASH (OR 1.40,95% CI 1.06-1.89, whereas ALT levels were associated with a lower GD risk (OR 0.98, 95% CI 0.97-0.99. When subjects with cirrhosis were excluded from analysis, the association between GD and fasting glucose, female gender, and NASH was maintained. CONCLUSION: Patients with NAFLD have a high prevalence of GD, which characterizes subjects with altered glucose regulation and more advanced liver disease.

  13. Abnormal illness behavior and Internet addiction severity: The role of disease conviction, irritability, and alexithymia

    Science.gov (United States)

    Scimeca, Giuseppe; Bruno, Antonio; Crucitti, Manuela; Conti, Claudio; Quattrone, Diego; Pandolfo, Gianluca; Zoccali, Rocco Antonio; Muscatello, Maria Rosaria Anna

    2017-01-01

    Background and aims While the association between health anxiety and maladaptive Internet use is a well-established finding, no studies have been performed to examine the possible effect of abnormal illness behavior (AIB). AIB is a maladaptive manner of experiencing, evaluating, or acting in response to health and illness that is disproportionate to evident pathology. The aim of this study was to investigate the association between AIB and Internet addiction (IA) severity in a sample of Italian University students. The possible effect of alexithymia, anxiety, and depression was also taken into account. Methods Participants were 115 men and 163 women (mean age = 23.62 ± 4.38 years); AIB was measured via the Illness Behavior Questionnaire (IBQ), and IA severity by the Internet Addiction Test (IAT). Results The most powerful IBQ factor predicting IA severity scores was disease conviction. Irritability was the only emotional IBQ factor associated with IA severity. Nevertheless, disease conviction and alexithymia remained the only significant predictors of IAT scores when hierarchical regression analysis was executed. Discussion and conclusions Our results support previous findings showing that those characterized by health anxiety are more prone to an excessive and maladaptive use of Internet. Moreover, this study showed that irritability was the only emotional aspect of AIB predicting IA severity. This finding is consistent with the cognitive model of hypochondria, which states that cognitive factors (dysfunctional beliefs and assumptions) play a major role in the explanation of this psychopathological condition. PMID:28245678

  14. Oxidative conditions prevail in severe IUGR with vascular disease and Doppler anomalies.

    Science.gov (United States)

    Maisonneuve, Emeline; Delvin, Edgard; Edgard, Annie; Morin, Lucie; Dubé, Johanne; Boucoiran, Isabelle; Moutquin, Jean-Marie; Fouron, Jean-Claude; Klam, Stephanie; Levy, Emile; Leduc, Line

    2015-08-01

    Intrauterine growth restriction (IUGR) and prenatal exposure to oxidative stress are thought to lead to increased risks of cardiovascular disease later in life. The objective of the present study was to document whether cord blood oxidative stress biomarkers vary with the severity of IUGR and of vascular disease in the twin pregnancy model in which both fetuses share the same maternal environment. This prospective cohort study involved dichorionic twin pairs, with one co-twin with IUGR. Oxidative stress biomarkers were measured in venous cord blood samples from each neonate of 32 twin pairs, and compared, according to severity of IUGR (IUGR <5th percentile), Doppler anomalies of the umbilical artery and early onset IUGR (in the second trimester) of the growth restricted twin. Oxidized Low-Density Lipoproteins (oxLDL) and Malondialdehyde (MDA) concentrations were increased proportionally in cases of severe IUGR. OxLDL concentrations were also increased in cases of IUGR with Doppler anomaly. Our data indicate that severe IUGR, is related to a derangement in redox balance, illustrated by increased venous cord blood oxidative stress biomarkers concentrations. Severe IUGR and IUGR with abnormal Doppler can be translated into conditions with intense oxidative stress.

  15. PREVALENCE AND PREDICTORS OF CORONARY ARTERY DISEASE IN SEVERE AORTIC STENOSIS PATIENTS UNDERGOING SURGERY

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    Narayanapilai Jayaprasad

    2017-09-01

    Full Text Available BACKGROUND The present study is to find out the prevalence of CAD in severe Aortic Stenosis (AS patients undergoing aortic valve replacement and the relation between the conventional risk factors and CAD in them. Calcific aortic stenosis is associated with the same risk factors as coronary artery disease. Studies on calcific aortic stenosis and CAD are rarely reported from India. The aim of the study is to find out the predictive value of angina for presence of CAD in severe aortic stenosis. MATERIALS AND METHODS All cases of isolated severe aortic stenosis undergoing CAG before aortic valve replacement were included in the study. Data regarding various risk factors, symptoms, echocardiographic parameters and angiographic profile were collected. RESULTS Among a total of 94 patients who have undergone aortic valve replacement for severe AS 40 (42.6% had CAD. Risk factors like advanced age, hypertension, diabetes and smoking were more in patients with CAD compared to isolate AS. Mean gradient was more in the AS + CAD group compared with AS group. Presence of angina had a sensitivity of 82.5% and specificity of 51.85% for predicting coexisting CAD. CONCLUSION Among severe aortic stenosis, patients undergoing AVR 42.6% of patients had significant obstructive CAD. The conventional risk factors predict presence of coronary artery disease. Angina has got a fairly good sensitivity, but moderate specificity for CAD.

  16. Abnormal illness behavior and Internet addiction severity: The role of disease conviction, irritability, and alexithymia.

    Science.gov (United States)

    Scimeca, Giuseppe; Bruno, Antonio; Crucitti, Manuela; Conti, Claudio; Quattrone, Diego; Pandolfo, Gianluca; Zoccali, Rocco Antonio; Muscatello, Maria Rosaria Anna

    2017-03-01

    Background and aims While the association between health anxiety and maladaptive Internet use is a well-established finding, no studies have been performed to examine the possible effect of abnormal illness behavior (AIB). AIB is a maladaptive manner of experiencing, evaluating, or acting in response to health and illness that is disproportionate to evident pathology. The aim of this study was to investigate the association between AIB and Internet addiction (IA) severity in a sample of Italian University students. The possible effect of alexithymia, anxiety, and depression was also taken into account. Methods Participants were 115 men and 163 women (mean age = 23.62 ± 4.38 years); AIB was measured via the Illness Behavior Questionnaire (IBQ), and IA severity by the Internet Addiction Test (IAT). Results The most powerful IBQ factor predicting IA severity scores was disease conviction. Irritability was the only emotional IBQ factor associated with IA severity. Nevertheless, disease conviction and alexithymia remained the only significant predictors of IAT scores when hierarchical regression analysis was executed. Discussion and conclusions Our results support previous findings showing that those characterized by health anxiety are more prone to an excessive and maladaptive use of Internet. Moreover, this study showed that irritability was the only emotional aspect of AIB predicting IA severity. This finding is consistent with the cognitive model of hypochondria, which states that cognitive factors (dysfunctional beliefs and assumptions) play a major role in the explanation of this psychopathological condition.

  17. Several issues regarding evaluation of renal injury and renal insufficiency in patients with liver disease

    Directory of Open Access Journals (Sweden)

    HAO Kunyan

    2016-07-01

    Full Text Available In patients with liver disease such as viral hepatitis and liver cirrhosis, renal injury and renal insufficiency can be generally classified as acute kidney injury (AKI, chronic kidney disease, and acute-on-chronic nephropathy. AKI can be classified as stage 1 (risk stage, stage 2 (injury stage, and stage 3 (failure stage. Traditionally hepatorenal syndrome is classified as types Ⅰ and Ⅱ, and in recent years, type Ⅲ hepatorenal syndrome with organic renal injury has been proposed. Hepatorenal disorder(HRD is used to describe any renal disease which occurs in patients with liver cirrhosis. At present, sensitive and accurate biochemical parameters used to evaluate renal function in patients with liver disease in clinical practice include estimated glomerular filtration rate, increase in serum creatinine within unit time, and serum cystatin C level, and urinary microalbumin level also plays an important role in the early diagnosis of nephropathy. Causes of liver disease, severity, complications including infection, nutritional status, therapeutic drugs, and underlying nephropathy may be associated with renal injury and renal insufficiency in patients with liver disease and should be differentiated.

  18. Parenting stress in pediatric IBD: relations with child psychopathology, family functioning, and disease severity.

    Science.gov (United States)

    Gray, Wendy N; Graef, Danielle M; Schuman, Shana S; Janicke, David M; Hommel, Kevin A

    2013-05-01

    Parenting stress in pediatric inflammatory bowel disease (IBD) has been under-examined. Data validating use of the Pediatric Inventory for Parents (PIP), a measure of parenting stress associated with caring for a chronically ill child, in chronic diseases with intermittent, unpredictable disease courses, such as IBD, are needed. This study presents validity data in support of the PIP in pediatric IBD and examines relations between parenting stress and important psychosocial and medical outcomes. Adolescents (N = 130) with IBD and their caregivers across 3 sites completed measures of parenting stress, family functioning, and emotional/behavioral functioning. Disease severity was also assessed for each participant. The PIP demonstrates excellent internal consistency. Parenting stress was significantly higher among those with unhealthy general family functioning and those with children with borderline or clinically elevated internalizing symptoms. Caregiving stress was greater among parents of youth with more active Crohn's disease. Results supported the reliability and validity of the PIP for assessing caregiving stress in pediatric IBD. Routine assessment of parenting stress is recommended, particularly among parents reporting unhealthy family functioning and parents of youth with borderline or clinically elevated internalizing symptoms and more active disease.

  19. Imaging mass spectrometry (IMS) of cortical lipids from preclinical to severe stages of Alzheimer's disease.

    Science.gov (United States)

    Gónzalez de San Román, E; Manuel, I; Giralt, M T; Ferrer, I; Rodríguez-Puertas, R

    2017-09-01

    Alzheimer's disease (AD) is a progressive neurodegenerative disease affecting millions of patients worldwide. Previous studies have demonstrated alterations in the lipid composition of lipid extracts from plasma and brain samples of AD patients. However, there is no consensus regarding the qualitative and quantitative changes of lipids in brains from AD patients. In addition, the recent developments in imaging mass spectrometry methods are leading to a new stage in the in situ analysis of lipid species in brain tissue slices from human postmortem samples. The present study uses the matrix-assisted laser desorption/ionization imaging mass spectrometry (MALDI-IMS), permitting the direct anatomical analysis of lipids in postmortem brain sections from AD patients, which are compared with the intensity of the lipid signal in samples from matched subjects with no neurological diseases. The frontal cortex samples from AD patients were classified in three groups based on Braak's histochemical criteria, ranging from non-cognitively impaired patients to those severely affected. The main results indicate a depletion of different sulfatide lipid species from the earliest stages of the disease in both white and gray matter areas of the frontal cortex. Therefore, the decrease in sulfatides in cortical areas could be considered as a marker of the disease, but may also indicate neurochemical modifications related to the pathogenesis of the disease. This article is part of a Special Issue entitled: Membrane Lipid Therapy: Drugs Targeting Biomembranes edited by Pablo V. Escribá. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Severe infectious diseases of childhood as monogenic inborn errors of immunity

    Science.gov (United States)

    Casanova, Jean-Laurent

    2015-01-01

    This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy children, adolescents, and even young adults have been attributed to single-gene inborn errors of immunity. These studies were inspired by seminal but neglected findings in plant and animal infections. Infectious diseases typically manifest as sporadic traits because human genotypes often display incomplete penetrance (most genetically predisposed individuals remain healthy) and variable expressivity (different infections can be allelic at the same locus). Infectious diseases of childhood, once thought to be archetypal environmental diseases, actually may be among the most genetically determined conditions of mankind. This nascent and testable notion has interesting medical and biological implications. PMID:26621750

  1. Severe infectious diseases of childhood as monogenic inborn errors of immunity.

    Science.gov (United States)

    Casanova, Jean-Laurent

    2015-12-22

    This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy children, adolescents, and even young adults have been attributed to single-gene inborn errors of immunity. These studies were inspired by seminal but neglected findings in plant and animal infections. Infectious diseases typically manifest as sporadic traits because human genotypes often display incomplete penetrance (most genetically predisposed individuals remain healthy) and variable expressivity (different infections can be allelic at the same locus). Infectious diseases of childhood, once thought to be archetypal environmental diseases, actually may be among the most genetically determined conditions of mankind. This nascent and testable notion has interesting medical and biological implications.

  2. Influence of preoperative oral rehydration on arterial plasma rocuronium concentrations and neuromuscular blocking effects: A randomised controlled trial.

    Science.gov (United States)

    Ishigaki, Sayaka; Ogura, Takahiro; Kanaya, Ayana; Miyake, Yu; Masui, Kenichi; Kazama, Tomiei

    2017-01-01

    The influence of preoperative rehydration on the action of rocuronium has not yet been investigated. The objective is to evaluate the hypothesis that preoperative rehydration lowers arterial rocuronium plasma concentrations and changes its associated neuromuscular blocking effects during induction of anaesthesia. Randomised, single-blinded study. A secondary hospital from October 2013 to July 2014. In total, 46 men undergoing elective surgery were eligible to participate and were randomly allocated into two groups. Exclusion criteria were severe hepatic, renal or cardiovascular disorder; neuromuscular disease; history of allergy to rocuronium; BMI more than 30 kg m; receiving medication known to influence neuromuscular function. Participants received 1500 ml of oral rehydration solution (rehydration group) or none (control group) until 2 hours before anaesthesia. Arterial blood samples were obtained 60, 90 and 120 s and 30 min after rocuronium (0.6 mg kg) administration during total intravenous anaesthesia. Responses to 0.1-Hz twitch stimuli were measured at the adductor pollicis muscle using acceleromyography. Arterial plasma rocuronium concentrations. Arterial plasma rocuronium concentrations at 60, 90 and 120 s in the rehydration and control groups were 9.9 and 13.7, 6.8 and 9.5 and 6.2 and 8.1 μg ml, respectively (P = 0.02, 0.003 and 0.02, respectively); the onset times in the rehydration and control groups were 92.0 and 69.5 s (P = 0.01), and the times to twitch re-appearance were 25.3 and 30.4 min (P = 0.004), respectively. Preoperative rehydration significantly reduces arterial plasma rocuronium concentrations in the first 2 minutes after administration, prolonging the onset time and shortening the duration of effect. A higher dose or earlier administration should be considered for patients who receive preoperative rehydration. Umin identifier: UMIN000011981.

  3. Association of disease severity with skin microbiome and filaggrin gene mutations in adult atopic dermatitis

    DEFF Research Database (Denmark)

    Clausen, Maja Lisa; Agner, Tove; Lilje, Berit

    2018-01-01

    IMPORTANCE Skin microbiome correlates with disease severity for lesional and nonlesional skin, indicating a global influence of atopic dermatitis (AD). A relation between skin microbiome and filaggrin gene (FLG) mutations proposes a possible association between skin microbiome and host genetics....... OBJECTIVES To assess skin and nasal microbiome diversity and composition in patients with AD and compare with healthy controls, and to investigate the microbiome in relation to disease severity and FLG mutations in patients with AD. DESIGN, SETTING, AND PARTICIPANTS An observational case-control study of 45...... analyses of the microbiome were analyzed using R statistical software (version 3.3.1, R Foundation Inc). MAIN OUTCOMES AND MEASURES Skin microbiomeswere investigated using next-generation sequencing targeting 16S ribosomal RNA. RESULTS Microbiome alpha diversity was lower in patients with AD compared...

  4. Correlation of Hyponatremia with Hepatic Encephalopathy and Severity of Liver Disease

    International Nuclear Information System (INIS)

    Qureshi, M. O.; Khokhar, N.; Saleem, A.; Niazi, T. K.

    2014-01-01

    Objective: To assess the frequency of low serum sodium levels and to correlate it with the severity of liver disease and hepatic encephalopathy (HE) in patients coming to the tertiary care hospital. Study Design: Observational study. Place and Duration of Study: Shifa International Hospital, Islamabad, from January 2011 to January 2012. Methodology: A total of 202 patients with hepatic encephalopathy and chronic liver disease had serum sodium measured. The HE was graded according to the West Haven classification (4 grades). Relationship of hyponatremia was correlated with severity grade of encephalopathy using Spearman rank correlation test. Results: Out of 202 patients, 62 (30.7%) patients had serum sodium less than 130 meq/l. Out of 202, HE was present in 69 (34.15%) patients and out of these, 38 had grade III-IV HE and 31 had grade I - II HE. Out of 69 patients with HE 57 had sodium less than 135 (p 135 mmol/L. (author)

  5. Epistaxis in end stage liver disease masquerading as severe upper gastrointestinal hemorrhage.

    Science.gov (United States)

    Camus, Marine; Jensen, Dennis M; Matthews, Jason D; Ohning, Gordon V; Kovacs, Thomas O; Jutabha, Rome; Ghassemi, Kevin A; Machicado, Gustavo A; Dulai, Gareth S

    2014-10-14

    To describe the prevalence, diagnosis, treatment, and outcomes of end stage liver disease (ESLD) patients with severe epistaxis thought to be severe upper gastrointestinal hemorrhage (UGIH). This observational single center study included all consecutive patients with ESLD and epistaxis identified from consecutive subjects hospitalized with suspected UGIH and prospectively enrolled in our databases of severe UGIH between 1998 and 2011. A total of 1249 patients were registered for severe UGIH in the data basis, 461 (36.9%) were cirrhotics. Epistaxis rather than UGIH was the bleeding source in 20 patients. All patients had severe coagulopathy. Epistaxis was initially controlled in all cases. Fifteen (75%) subjects required posterior nasal packing and 2 (10%) embolization in addition to correction of coagulopathy. Five (25%) patients died in the hospital, 12 (60%) received orthotopic liver transplantation (OLT), and 3 (15%) were discharged without OLT. The mortality rate was 63% in patients without OLT. Severe epistaxis in patients with ESLD is (1) a diagnosis of exclusion that requires upper endoscopy to exclude severe UGIH; and (2) associated with a high mortality rate in patients not receiving OLT.

  6. Association of heart rate profile during exercise with the severity of coronary artery disease.

    Science.gov (United States)

    Cay, Serkan; Ozturk, Sezgin; Biyikoglu, Funda; Yildiz, Abdulkadir; Cimen, Tolga; Uygur, Belma; Tuna, Funda

    2009-05-01

    Coronary artery disease is the leading cause of morbidity and mortality around the world. Autonomic nervous system abnormalities are associated with coronary artery disease and its complications. Exercise stress tests are routinely used for the detection of the presence of coronary artery disease. In this study, we observed the association between heart rate profile during exercise and the severity of coronary artery disease. One hundred and sixty patients with abnormal exercise treadmill test (> or =1 mm horizontal or downsloping ST-segment depression; 119 men, 41 women; mean age = 57 +/- 9 years) were included in the study. Use of any drug affecting heart rate was not permitted. Resting heart rate before exercise, maximum heart rate during exercise, and resting heart rate after exercise (5 min later) were measured and two parameters were calculated: heart rate increment (maximum heart rate - resting heart rate before exercise) and heart rate decrement (maximum heart rate - resting heart rate after exercise). All patients underwent selective coronary angiography and subclassified into two groups according to stenotic lesion severity. Group 1 had at least 50% of stenotic lesion and group 2 had less than 50%. Patients in the first group had increased resting heart rate, decreased maximum heart rate, decreased heart rate increment, and decreased heart rate decrement compared with second group. All patients were classified into tertiles of resting heart rate, heart rate increment, and heart rate decrement level to evaluate whether these parameters were associated with severity of coronary artery stenosis in the study. The multiple-adjusted odds ratio of the risk of severe coronary atherosclerosis was 21.888 (95% confidence interval 6.983-68.606) for the highest tertile of resting heart rate level compared with the lowest tertile. In addition, the multiple-adjusted odds ratio of the risk of severe coronary atherosclerosis was 20.987 (95% confidence interval 6

  7. The Association between Serum Resistin Level and Presence or Severity of Coronary Heart Disease

    Directory of Open Access Journals (Sweden)

    Roozbeh Mortazavi

    2017-03-01

    Full Text Available Background: Obesity is a well-known principal risk factor for metabolic disorders and cardiovascular diseases. Resistin is one of adipocyte-derived molecules, which plays important roles in inflammation as well as in endocrine and cardiovascular systems. Objectives: The present study aimed to determine the association between serum resistin level and presence/severity of Coronary Heart Disease (CHD. Patients and Methods: This cross-sectional study was conducted on 155 individuals referred for coronary angiography. Information about the patients’ age, gender, and cardiovascular risk factors was recorded. Their weight, height, and waist and hip circumferences were measured, as well. Each coronary angiogram was reported for two scoring methods (number of vessel diseases (usual method and Gensini scoring system by one cardiologist who was not aware of the participants’ serum resistin levels. Then, the relationship between serum resistin level and presence/severity of CHD was evaluated. Results: The results revealed no significant associations between the mean serum resistin level and the presence of CHD by both methods of evaluation of the coronary angiograms after adjustment for all conventional risk factors for CHD. In addition, no significant association was detected between serum resistin level and the severity of CHD based on the usual method of reporting the coronary angiograms (number of vessel diseases (P = 0.332. Yet, serum resistin level was positively correlated to body mass index and waist and hip circumferences and negatively related to height and fasting blood sugar level. Moreover, no linear correlation was found between serum resistin level and Gensini score (P = 0.35. Finally, hip circumference (P = 0.002 and height (P = 0.018 were determined as the predictors of serum resistin level. Conclusions: This cross-sectional study showed no significant associations between serum resistin level and presence/severity of CHD.

  8. A Rare Case of Parkinson's Disease with Severe Neck Pain Owing to Crowned Dens Syndrome

    OpenAIRE

    Teruyuki Takahashi; Masato Tamura; Keiichi Osabe; Takashi Tamiya; Kenji Miki; Mai Yamaguchi; Kanno Akira; Satoshi Kamei; Toshiaki Takasu

    2014-01-01

    Background: Pain is regarded as one of the most common nonmotor symptoms in Parkinson's disease (PD). In particular, musculoskeletal pain has been reported as the most common type of PD-associated pain. Crowned dens syndrome (CDS), related to microcrystalline deposition in the periodontoid process, is the main cause of acute or chronic cervical pain. Case Presentation: This report describes the case of an 87-year-old woman who had severe bradykinesia, muscle rigidity, gait disturbance and nec...

  9. Impact of Disease Severity, Illness Beliefs, and Coping Strategies on Outcomes in Psoriatic Arthritis.

    Science.gov (United States)

    Howells, Laura; Chisholm, Anna; Cotterill, Sarah; Chinoy, Hector; Warren, Richard B; Bundy, Christine

    2018-02-01

    Little is known about how people with psoriatic arthritis (PsA) cope with and manage their condition, but data show that psychological problems are underrecognized and undertreated. The Common Sense Self-Regulatory Model (CS-SRM) suggests illness beliefs, mediated by coping, may influence health outcomes. The study aimed to investigate the roles of disease severity, illness beliefs, and coping strategies in predicting depression, anxiety, and quality of life (QoL) in people with PsA. Additionally, we aimed to assess the role of depression and anxiety in predicting QoL. We conducted a cross-sectional observational study, where adults with PsA (n = 179) completed validated measures of predictor (illness beliefs, coping strategies, disease severity) and outcome variables (depression, anxiety, QoL) using an online survey distributed via social media. The participants were a community sample of 179 adults with PsA, ages 20 to 72 years (77.1% female). After controlling for disease severity, hierarchical multiple regression models indicated that more negative beliefs about consequences and behavioral disengagement as a coping method predicted levels of depression, and self-blame predicted anxiety. Beliefs about consequences and the presence of depression predicted quality of life scores after controlling for disease severity. This study offers support for the use of the CS-SRM in explaining variation on psychological outcomes in individuals with PsA. The illness beliefs and coping strategies identified as predictors in this article are potential targets for interventions addressing PsA-related distress and QoL. © 2017, American College of Rheumatology.

  10. Human Metapneumovirus Infection in Jordanian Children: Epidemiology and Risk Factors for Severe Disease

    Science.gov (United States)

    Schuster, Jennifer E.; Khuri-Bulos, Najwa; Faouri, Samir; Shehabi, Asem; Johnson, Monika; Wang, Li; Fonnesbeck, Christopher; Williams, John V.; Halasa, Natasha

    2016-01-01

    Background Human metapneumovirus (HMPV) is a leading cause of acute respiratory tract infection (ARTI) in young children. Our objectives were to define HMPV epidemiology and circulating strains and determine markers of severe disease in Jordanian children. Methods We conducted a prospective study March 16, 2010-March 31, 2013 using quantitative RT-PCR to determine the frequency of HMPV infection among children <2 years old admitted with fever and/or acute respiratory illness to a major government hospital in Amman, Jordan. Results HMPV was present in 273/3168 (8.6%) of children presenting with ARTI. HMPV A2, B1, and B2, but not A1, were detected during the 3-year period. HMPV-infected children were older and more likely to be diagnosed with bronchopneumonia than HMPV-negative children. HMPV-infected children with lower respiratory tract infection (LRTI) had higher rates of cough and shortness of breath than children with LRTI infected with other or no identifiable viruses. Symptoms and severity were not different between children with HMPV only compared with HMPV co-infection. Children with HMPV subgroup A infection were more likely to require supplemental oxygen. In a multivariate analysis, HMPV subgroup A and age <6 months were independently associated with supplemental oxygen requirement. Conclusions HMPV is a leading cause of acute respiratory tract disease in Jordanian children <2 years old. HMPV A and young age were associated with severe disease. Ninety percent of HMPV-infected hospitalized children were full-term and otherwise healthy, in contrast to high-income nations; thus, factors contributing to disease severity likely vary depending on geographic and resource differences. PMID:26372450

  11. Corneal arcus: an indicator of severe coronary artery disease in a young adult man.

    Science.gov (United States)

    Sucu, Murat; Davutoglu, Vedat

    2009-01-01

    A 32-year-old man was transferred to our emergency service with the diagnosis of sudden cardiopulmonary arrest. During eye examination, a typical corneal arcus was observed. The patient underwent the primary percutaneous coronary intervention. Coronary angiography showed a total occlusion of proximal left anterior descending artery. Primary coronary balloon angioplasty was successfully performed. Independently of total cholesterol, serum high-density lipoprotein cholesterol and smoking, corneal arcus has been suggested as a predictor of coronary heart disease among hyperlipidemic men. Physical examination can yield valuable diagnostic clues in a patient suspected of ischaemic heart disease. In summary, the appearance of corneal arcus in young adult men might be an indicator of severe coronary artery disease and should be screened by means of physical examination especially in the setting of cardiopulmonary arrest (Fig. 1, Ref. 4).

  12. EBV-Associated Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis in a Patient with Severe Celiac Disease

    Directory of Open Access Journals (Sweden)

    John Jacob Kinross-Wright

    2018-01-01

    Full Text Available Background. Epstein-Barr virus- (EBV- associated lymphoproliferative disease (LPD is a rare condition, usually occurring in immunocompromised patients. We report a case of EBV-associated LPD in a patient with severe celiac disease, the first report to describe this syndrome in a patient with this diagnosis. Case Summary. A 69-year-old Caucasian woman with recent diagnosis of celiac sprue presented to our hospital with persistent diarrhea, abdominal pain, weight loss, and fatigue despite adherence to gluten-free diet for a number of weeks prior to presentation. She underwent evaluation for occult malignancy and was found to have diffuse intra-abdominal mesenteric lymphadenopathy on CT scan. Biopsy of mesenteric nodes revealed an EBV positive, CD20 positive mixed lymphoproliferative process with T-cell predominance, but without a monoclonal cell population felt to be consistent with EBV-associated LPD. Bone marrow biopsy revealed hemophagocytic lymphohistiocytosis, complicating her course. She was treated with steroids and rituximab but continued to decline, eventually developing MSSA bacteremia and succumbing to her disease. Conclusion. To our knowledge, this is the first report of the constellation of celiac sprue, EBV-associated LPD, and hemophagocytic lymphohistiocytosis. Providers caring for patients with severe, uncontrolled celiac disease and adenopathy should consider EBV-associated LPD.

  13. Alexithymia, Assertiveness and Psychosocial Functioning in HIV: Implications for Medication Adherence and Disease Severity.

    Science.gov (United States)

    McIntosh, Roger C; Ironson, Gail; Antoni, Michael; Fletcher, Mary Ann; Schneiderman, Neil

    2016-02-01

    Psychosocial function and adherence to antiretroviral regimen are key factors in human immunodeficiency virus (HIV) disease management. Alexithymia (AL) is a trait deficit in the ability to identify and describe feelings, emotions and bodily sensations. A structural equation model was used to test whether high levels of AL indirectly relate to greater non-adherent behavior and HIV disease severity via psychosocial dysfunction. Blood draws for HIV-1 viral load and CD4 T-lymphocyte, along with psychosocial surveys were collected from 439 HIV positive adults aged 18-73 years. The structural model supports significant paths from: (1) AL to non-active patient involvement, psychological distress, and lower social support, (2) psychological distress and non-active involvement to non-adherent behavior, and (3) non-adherence to greater HIV disease severity (CFI = .97, RMSEA = .04, SRMR = .05). A second model confirmed the intermediary effect of greater patient assertiveness on the path from AL to social support and non-active patient involvement (CFI = .94, RMSEA = .04, SRMR = .05). Altogether, AL is indirectly linked with HIV disease management through it's association with poor psychosocial function, however greater patient assertiveness buffers the negative impact of AL on relationship quality with healthcare providers and members of one's social support network.

  14. Periodontal disease severity in subjects with dementia: A systematic review and meta-analysis.

    Science.gov (United States)

    Gusman, David Jonathan R; Mello-Neto, João M; Alves, Breno Edson S; Matheus, Henrique R; Ervolino, Edilson; Theodoro, Letícia H; de Almeida, Juliano M

    Despite clinical trials and reviews attempt to assess a possible relationship between dementia and periodontal disease, no meta-analysis has been performed and this issue remains undetermined. The aim of this study is to conduct a systematic review and meta-analysis to assess severity of periodontitis in subjects with dementia. The search was conducted in Pubmed, Embase/MEDLINE. Two independent reviewers extracted data and assessed the risk bias (Newcastle-Ottawa scale). Meta-analyses were performed using the means of probing depth (PD) and clinical attachment loss (CAL) in patients with or without dementia. The mean difference were analyzed (P ≤ 0.05). Fourteen studies were included in the systematic review. In the qualitative analysis, most studies reported higher prevalence of periodontal disease in dementia patients. The studies had low risk of bias and two meta-analyses were performed for each parameter, including or not a cross-sectional study. The meta-analyses including the cross-sectional study demonstrated significant association between dementia and periodontal disease (mean difference: PD = 1.41; CAL = 1.40, P periodontal conditions in dementia patients, due to different study types and the high heterogeneity among them, the meta-analysis does not support the association between dementia and severity of periodontal disease. Copyright © 2018 Elsevier B.V. All rights reserved.

  15. COMET: a multicomponent home-based disease-management programme versus routine care in severe COPD.

    Science.gov (United States)

    Kessler, Romain; Casan-Clara, Pere; Koehler, Dieter; Tognella, Silvia; Viejo, Jose Luis; Dal Negro, Roberto W; Díaz-Lobato, Salvador; Reissig, Karina; Rodríguez González-Moro, José Miguel; Devouassoux, Gilles; Chavaillon, Jean-Michel; Botrus, Pierre; Arnal, Jean-Michel; Ancochea, Julio; Bergeron-Lafaurie, Anne; De Abajo, Carlos; Randerath, Winfried J; Bastian, Andreas; Cornelissen, Christian G; Nilius, Georg; Texereau, Joëlle B; Bourbeau, Jean

    2018-01-01

    The COPD Patient Management European Trial (COMET) investigated the efficacy and safety of a home-based COPD disease management intervention for severe COPD patients.The study was an international open-design clinical trial in COPD patients (forced expiratory volume in 1 s management intervention or to the usual management practices at the study centre. The disease management intervention included a self-management programme, home telemonitoring, care coordination and medical management. The primary end-point was the number of unplanned all-cause hospitalisation days in the intention-to-treat (ITT) population. Secondary end-points included acute care hospitalisation days, BODE (body mass index, airflow obstruction, dyspnoea and exercise) index and exacerbations. Safety end-points included adverse events and deaths.For the 157 (disease management) and 162 (usual management) patients eligible for ITT analyses, all-cause hospitalisation days per year (mean±sd) were 17.4±35.4 and 22.6±41.8, respectively (mean difference -5.3, 95% CI -13.7 to -3.1; p=0.16). The disease management group had fewer per-protocol acute care hospitalisation days per year (p=0.047), a lower BODE index (p=0.01) and a lower mortality rate (1.9% versus 14.2%; pmanagement intervention did not significantly reduce unplanned all-cause hospitalisation days, but reduced acute care hospitalisation days and mortality in severe COPD patients. Copyright ©ERS 2018.

  16. Soluble CD163 is increased in patients with acute pancreatitis independent of disease severity.

    Science.gov (United States)

    Karrasch, Thomas; Brünnler, Tanja; Hamer, Okka W; Schmid, Karin; Voelk, Markus; Herfarth, Hans; Buechler, Christa

    2015-10-01

    Macrophages are crucially involved in the pathophysiology of acute pancreatitis. Soluble CD163 (sCD163) is specifically released from macrophages and systemic levels are increased in inflammatory diseases. Here, sCD163 was measured in serum of 50 patients with acute pancreatitis to find out possible associations with disease activity. Admission levels of systemic sCD163 were nearly three-fold higher in patients with acute pancreatitis compared to controls. In patients sCD163 did not correlate with C-reactive protein and leukocyte count as established markers of inflammation. Levels were not associated with disease severity assessed by the Schroeder score, Balthazar score, Acute Physiology, Age, and Chronic Health Evaluation (Apache) II score and peripancreatic necrosis score. Soluble CD163 was not related to complications of acute pancreatitis. These data show that serum sCD163 is increased in acute pancreatitis indicating activation of macrophages but is not associated with disease severity and outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Relation of time to complete redistribution and the severity of coronary artery disease

    International Nuclear Information System (INIS)

    Nishimura, Tsunehiko; Uehara, Toshiisa; Hayashida, Kohei; Kozuka, Takahiro; Saito, Muneyasu; Sumiyoshi, Tetsuya

    1985-01-01

    The relation between the severity of coronary artery disease and the time to complete redistribution (RD) was investigated in 66 patients with angina pectoris (AP) (28 SVD, 18 DVD and 20 TVD) and 104 patients with myocardial infarction (MI) (45 SVD, 36 DVD and 23 TVD). Stress thallium scan was performed immediately, 30 minutes (early) and 4 hours (delayed) after exercise. RD was classified into three groups (complete, incomplete and no RD). Early complete RD was observed in 15 (23 %) of AP and 3 (3 %) of MI cases. In both cases, the incidence of early RD was higher in SVD compared to DVD and TVD. And diffuse slow washout calculated from exercise and RD study disturbed the incidence of early RD in DVD and TVD. In the early RD cases of AP, coronary stenosis showed mild and collateral was not correlated, however, in the complete or incomplete RD of MI, coronary stenosis showed severe (> 90 %) and the frequency of collateral was higher compared to no RD cases. In MI cases, complete, incomplete and no RD were observed in 22 %, 25 % and 53 %, respectively. In the latter, a- or dys-kinesis at infarct zone was often observed which showed myocardial viability. In conclusion, early RD was observed about 20 % of coronary artery disease and the time to complete RD was closely related to the severity of coronary artery disease. In addition, the sensitivity for detecting transient thallium defect was influenced by the delay in beginning imaging. (author)

  18. The impact of chronic heart failure on misinterpretation and misclassification of chronic obstructive pulmonary disease severity

    Directory of Open Access Journals (Sweden)

    I.I. Vyshnyvetskyy

    2016-03-01

    Full Text Available Aim. To evaluate the impact of comorbid chronic heart failure (CHF on the severity of symptoms and correctness of chronic obstructive pulmonary disease (COPD classification. Materials and methods. Cross-sectional study included 177 patients with COPD and concomitant cardiovascular diseases. All patients were undergone spirometry, chest radiography, echocardiography, validated questionnaires (COPD assessment test (CAT, Hospital anxiety and depression scale (HADS. Multiple regression was used to establish adjusted impact of CHF presence on CAT scores and COPD severity misclassification. Results. It was established that the presence of comorbid CHF increases CAT score by 3.29, 95% CI [1.71–5.02] points. In the overall cohort of COPD patients CAT scores adjustment for the presence of CHF has resulted in reclassification of 15.5% of patients from group B to group A, and 4.3% of patients from group D to group C. Among selective patients with COPD and CHF the rate of revised classification constituted 32.1% and 7.9%, respectively. Conclusion. The presence of comorbid CHF is able to significantly change the correct assessment of the intensity of COPD symptoms, disease-specific health status and classification of COPD severity.

  19. Surgical treatment of nonalcoholic fatty liver disease in severely obese patients

    Directory of Open Access Journals (Sweden)

    Vander Naalt SJ

    2014-10-01

    Full Text Available Steven J Vander Naalt, Juan P Gurria, AiXuan L HoltermanUniversity of Illinois College of Medicine at Peoria, Children's Hospital of Illinois, Department of Surgery/Pediatric Surgery, Peoria, IL, USAAbstract: Obesity is a multi-organ system disease with underlying metabolic abnormalities and chronic systemic inflammation. Nonalcoholic fatty liver disease (NAFLD is a hepatic manifestation of obesity metabolic dysfunction and its associated cardiovascular- and liver-related morbidities and mortality. Our current understanding of NAFLD pathogenesis, disease characteristics, the role of insulin resistance, chronic inflammation, gut–liver and gut–brain crosstalk and the effectiveness of pharmacotherapy is still evolving. Bariatric surgery significantly improves metabolic and NAFLD histology in severely obese patients, although its positive effects on fibrosis are not universal. Bariatric surgery benefits NAFLD through its metabolic effect on insulin resistance, inflammation, and insulinotropic and anorexinogenic gastrointestinal hormones. Further studies are needed to understand the natural course of NAFLD in severely obese patients and the role of weight loss surgery as a primary treatment for NAFLD.Keywords: NAFLD, severe obesity, bariatric surgery

  20. An Estimate of Severe and Chronic Fungal Diseases in the Republic of Kazakhstan

    Directory of Open Access Journals (Sweden)

    Vadim M. Kemaykin

    2018-03-01

    Full Text Available Our work aimed to generate a preliminary estimation of severe and chronic fungal diseases in the Republic of Kazakhstan with a model proposed by LIFE (Leading International Fungal Education. Calculations were carried out on data from 2015. Published results of studies of mycoses in Kazakhstan were identified; in the absence of national data from the scientific literature, the frequency of life-threatening and serious mycoses in defined groups of patients at risk from other countries were taken into account. We also used analogous estimations of mycoses in the Russian Federation. We estimate that 300,824 patients (1.7% of the population were affected by severe and chronic mycotic diseases. There were an estimated 15,172 cases of acute mycoses, notably tinea capitis in children (11,847, Pneumocystis pneumonia and invasive candidiasis, and 285,652 of chronic fungal diseases. The most frequent were chronic recurrent vulvovaginal candidiasis (273,258 cases and chronic pulmonary aspergillosis (6231. There is uncertainty about the prevalence of asthma in adults; the official number is 12,478 patients, but a prevalence estimate of 1.47% from a WHO consortium yields a prevalence of ~170,000 affected. We have used the official figures to generate the prevalence of fungal asthma, but it is likely to be a significant underestimate. Conclusion: Results of investigation indicate significant prevalence of severe and chronic mycoses in the Republic of Kazakhstan.

  1. Helminth-induced arginase-1 exacerbates lung inflammation and disease severity in tuberculosis

    Science.gov (United States)

    Monin, Leticia; Griffiths, Kristin L.; Lam, Wing Y.; Gopal, Radha; Kang, Dongwan D.; Ahmed, Mushtaq; Rajamanickam, Anuradha; Cruz-Lagunas, Alfredo; Zúñiga, Joaquín; Babu, Subash; Kolls, Jay K.; Mitreva, Makedonka; Rosa, Bruce A.; Ramos-Payan, Rosalio; Morrison, Thomas E.; Murray, Peter J.; Rangel-Moreno, Javier; Pearce, Edward J.; Khader, Shabaana A.

    2015-01-01

    Parasitic helminth worms, such as Schistosoma mansoni, are endemic in regions with a high prevalence of tuberculosis (TB) among the population. Human studies suggest that helminth coinfections contribute to increased TB susceptibility and increased rates of TB reactivation. Prevailing models suggest that T helper type 2 (Th2) responses induced by helminth infection impair Th1 immune responses and thereby limit Mycobacterium tuberculosis (Mtb) control. Using a pulmonary mouse model of Mtb infection, we demonstrated that S. mansoni coinfection or immunization with S. mansoni egg antigens can reversibly impair Mtb-specific T cell responses without affecting macrophage-mediated Mtb control. Instead, S. mansoni infection resulted in accumulation of high arginase-1–expressing macrophages in the lung, which formed type 2 granulomas and exacerbated inflammation in Mtb-infected mice. Treatment of coinfected animals with an antihelminthic improved Mtb-specific Th1 responses and reduced disease severity. In a genetically diverse mouse population infected with Mtb, enhanced arginase-1 activity was associated with increased lung inflammation. Moreover, in patients with pulmonary TB, lung damage correlated with increased serum activity of arginase-1, which was elevated in TB patients coinfected with helminths. Together, our data indicate that helminth coinfection induces arginase-1–expressing type 2 granulomas, thereby increasing inflammation and TB disease severity. These results also provide insight into the mechanisms by which helminth coinfections drive increased susceptibility, disease progression, and severity in TB. PMID:26571397

  2. Murmur intensity in adult dogs with pulmonic and subaortic stenosis reflects disease severity.

    Science.gov (United States)

    Caivano, D; Dickson, D; Martin, M; Rishniw, M

    2018-03-01

    The aims of this study were to determine whether murmur intensity in adult dogs with pulmonic stenosis or subaortic stenosis reflects echocardiographic disease severity and to determine whether a six-level murmur grading scheme provides clinical advantages over a four-level scheme. In this retrospective multi-investigator study on adult dogs with pulmonic stenosis or subaortic stenosis, murmur intensity was compared to echocardiographically determined pressure gradient across the affected valve. Disease severity, based on pressure gradients, was assessed between sequential murmur grades to identify redundancy in classification. A simplified four-level murmur intensity classification scheme ('soft', 'moderate', 'loud', 'palpable') was evaluated. In total, 284 dogs (153 with pulmonic stenosis, 131 with subaortic stenosis) were included; 55 dogs had soft, 59 had moderate, 72 had loud and 98 had palpable murmurs. 95 dogs had mild stenosis, 46 had moderate stenosis, and 143 had severe stenosis. No dogs with soft murmurs of either pulmonic or subaortic stenosis had transvalvular pressure gradients greater than 50 mmHg. Dogs with loud or palpable murmurs mostly, but not always, had severe stenosis. Stenosis severity increased with increasing murmur intensity. The traditional six-level murmur grading scheme provided no additional clinical information than the four-level descriptive murmur grading scheme. A simplified descriptive four-level murmur grading scheme differentiated stenosis severity without loss of clinical information, compared to the traditional six-level scheme. Soft murmurs in dogs with pulmonic or subaortic stenosis are strongly indicative of mild lesions. Loud or palpable murmurs are strongly suggestive of severe stenosis. © 2017 British Small Animal Veterinary Association.

  3. Effect of Maize Hybrid and Foliar Fungicides on Yield Under Low Foliar Disease Severity Conditions.

    Science.gov (United States)

    Mallowa, Sally O; Esker, Paul D; Paul, Pierce A; Bradley, Carl A; Chapara, Venkata R; Conley, Shawn P; Robertson, Alison E

    2015-08-01

    Foliar fungicide use in the U.S. Corn Belt increased in the last decade; however, questions persist pertaining to its value and sustainability. Multistate field trials were established from 2010 to 2012 in Illinois, Iowa, Ohio, and Wisconsin to examine how hybrid and foliar fungicide influenced disease intensity and yield. The experimental design was in a split-split plot with main plots consisting of hybrids varying in resistance to gray leaf spot (caused by Cercospora zeae-maydis) and northern corn leaf blight (caused by Setosphaera turcica), subplots corresponding to four application timings of the fungicide pyraclostrobin, and sub-subplots represented by inoculations with either C. zeae-maydis, S. turcica, or both at two vegetative growth stages. Fungicide application (VT/R1) significantly reduced total disease severity relative to the control in five of eight site-years (P<0.05). Disease was reduced by approximately 30% at Wisconsin in 2011, 20% at Illinois in 2010, 29% at Iowa in 2010, and 32 and 30% at Ohio in 2010 and 2012, respectively. These disease severities ranged from 0.2 to 0.3% in Wisconsin in 2011 to 16.7 to 22.1% in Illinois in 2010. The untreated control had significantly lower yield (P<0.05) than the fungicide-treated in three site-years. Fungicide application increased the yield by approximately 6% at Ohio in 2010, 5% at Wisconsin in 2010 and 6% in 2011. Yield differences ranged from 8,403 to 8,890 kg/ha in Wisconsin 2011 to 11,362 to 11,919 kg/ha in Wisconsin 2010. Results suggest susceptibility to disease and prevailing environment are important drivers of observed differences. Yield increases as a result of the physiological benefits of plant health benefits under low disease were not consistent.

  4. Intrauterine neuromuscular blockade in fetus.

    Science.gov (United States)

    Fan, S Z; Huang, F Y; Lin, S Y; Wang, Y P; Hsieh, F J

    1990-03-01

    Antenatal intrauterine fetal therapy has now become the target of numerous invasive diagnostic and therapeutic maneuvers. Fetal motion during intrauterine fetal therapy not only makes these procedures technically more difficult but also increases the likelihood of trauma to the umbilical vessels and the fetus. Combination of high doses of sedatives, tranquilizers, and narcotics rarely results in adequate suppression of fetal movement. Such medication puts the mother at risk of respiratory depression, regurgitation and aspiration. The use of pancuronium or atracurium to temporarily arrest fetal movement in ten fetus is reported. After an initial ultrasound assessment of fetal lie, placental location, and umbilical cord insertion site, the fetal weight was calculated by the ultrasound parameters of biparietal diameter and abdominal circumference. Under ultrasound guidance, we injected pancuronium 0.15 mg/kg or atracurium 1.0 mg/kg using a 23-gauge spinal needle into the fetal gluteal muscle. Short-term paralysis of the fetus was induced in all cases. Fetal movement stopped by sonographic observation within 5.8 +/- 2.3 min in the pancuronium group and 4.7 +/- 1.8 min in the atracurium group. Fetal movements returned both to maternal sensation or ultrasonic observation by 92 +/- 23 min in the first group and 36 +/- 11 min in the second group. No adverse effect of the relaxant has been observed in any of the mothers. There was no evidence of local soft tissue, nerve or muscle damage at the site of injection on initial examination of the neonates after delivery. The use of neuromuscular relaxant in fetus was a safe and useful method.

  5. Prolongation of rapacuronium neuromuscular blockade by clindamycin and magnesium.

    Science.gov (United States)

    Sloan, Paul A; Rasul, Mazhar

    2002-01-01

    We report a prolonged neuromuscular block with the nondepolarizing muscle relaxant rapacuronium in the presence of clindamycin. Even when using "short-acting" muscle relaxants, the anesthesiologist must routinely monitor the neuromuscular function.

  6. Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Patten, Shunmoogum A; Aggad, Dina; Martinez, Jose; Tremblay, Elsa; Petrillo, Janet; Armstrong, Gary Ab; La Fontaine, Alexandre; Maios, Claudia; Liao, Meijiang; Ciura, Sorana; Wen, Xiao-Yan; Rafuse, Victor; Ichida, Justin; Zinman, Lorne; Julien, Jean-Pierre; Kabashi, Edor; Robitaille, Richard; Korngut, Lawrence; Parker, J Alexander; Drapeau, Pierre

    2017-11-16

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressing, fatal disorder with no effective treatment. We used simple genetic models of ALS to screen phenotypically for potential therapeutic compounds. We screened libraries of compounds in C. elegans, validated hits in zebrafish, and tested the most potent molecule in mice and in a small clinical trial. We identified a class of neuroleptics that restored motility in C. elegans and in zebrafish, and the most potent was pimozide, which blocked T-type Ca2+ channels in these simple models and stabilized neuromuscular transmission in zebrafish and enhanced it in mice. Finally, a short randomized controlled trial of sporadic ALS subjects demonstrated stabilization of motility and evidence of target engagement at the neuromuscular junction. Simple genetic models are, thus, useful in identifying promising compounds for the treatment of ALS, such as neuroleptics, which may stabilize neuromuscular transmission and prolong survival in this disease.

  7. Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms.

    Science.gov (United States)

    Elgadi, Aziz; Arvidsson, C-G; Janson, Annika; Marcus, Claude; Costagliola, Sabine; Norgren, Svante

    2005-08-01

    Neuromuscular presentations are common in thyroid disease, although the mechanism is unclear. In the present study, we investigated the pathogenesis in a boy with autosomal-dominant hyperthyroidism presenting with neuromuscular symptoms. The TSHr gene was investigated by direct sequencing. Functional properties of the mutant TSHr were investigated during transient expression in COS-7 cells. Family members were investigated by clinical and biochemical examinations. Sequence analysis revealed a previously reported heterozygous missense mutation Glycine 431 for Serine in the first transmembrane segment, leading to an increased specific constitutive activity. Three additional affected family members carried the same mutation. There was no indication of autoimmune disorder. All symptoms disappeared upon treatment with thacapzol and L-thyroxine and subsequent subtotal thyroidectomy. The data imply that neuromuscular symptoms can be caused by excessive thyroid hormone levels rather than by autoimmunity.

  8. Association of Cardiac Hemodynamic Factors With Severity of White Matter Hyperintensities in Chronic Valvular Heart Disease.

    Science.gov (United States)

    Lee, Woo-Jin; Jung, Keun-Hwa; Ryu, Young Jin; Kim, Jeong-Min; Lee, Soon-Tae; Chu, Kon; Kim, Manho; Lee, Sang Kun; Roh, Jae-Kyu

    2018-01-01

    The cerebral white matter hyperintensity (WMH) is frequently noted in patients with chronic heart disease. Long-term alteration of cardiac hemodynamics might have an influence on the mechanism of cerebral WMH. To investigate the association between chronically altered cardiac hemodynamics and severity of cerebral WMH in patients with chronic valvular heart disease. This cross-sectional analysis identified 303 consecutive patients at a tertiary referral center between 2008 and 2016 who were 50 years or older, and diagnosed with severe chronic valvular heart disease and underwent cardiac catherization, echocardiography, and received brain magnetic resonance imaging. Among these patients, 71 with other demonstrated cardiac disease, central nervous system disease, and/or without sufficient catheterization data were excluded, and the remaining 232 patients were included in further analyses. The site and mechanism of valve diseases, as well as clinical and medication profiles, were reviewed. Cardiac catheterization parameters such as right atrial (RA) mean pressure, right ventricular pressure, and aortic mean pressure were obtained. Comprehensive echocardiographic hemodynamic markers such as left ventricular (LV) ejection fraction, LV mass index, LV end diastolic volume, cardiac index, and E/e' ratio were also obtained. White matter hyperintensity volume was quantitatively evaluated using volumetric analysis. This study included 232 patients (103 men [44.4%] and 129 women [55.6%]; mean [SD] (range) age, 65.6 [8.8] (51-88) years) in the final analysis. The mean (SD) WMH volume was 5.93 (7.14) mL (median [interquartile range], 4.33 [1.33-8.62] mL), and mean (SD) RA pressure was 10.0 (4.7) mm Hg. From the catheterization data, 147 patients (63.4%) were classified as having a disease involving the mitral valve; 93 (40.1%), aortic valve; 37 (15.9%), tricuspid valve; and 4 (1.7%), pulmonary valve. In multivariate linear regression analysis, adjusting the type and mechanism of

  9. Ball python nidovirus: a candidate etiologic agent for severe respiratory disease in Python regius.

    Science.gov (United States)

    Stenglein, Mark D; Jacobson, Elliott R; Wozniak, Edward J; Wellehan, James F X; Kincaid, Anne; Gordon, Marcus; Porter, Brian F; Baumgartner, Wes; Stahl, Scott; Kelley, Karen; Towner, Jonathan S; DeRisi, Joseph L

    2014-09-09

    A severe, sometimes fatal respiratory disease has been observed in captive ball pythons (Python regius) since the late 1990s. In order to better understand this disease and its etiology, we collected case and control samples and performed pathological and diagnostic analyses. Electron micrographs revealed filamentous virus-like particles in lung epithelial cells of sick animals. Diagnostic testing for known pathogens did not identify an etiologic agent, so unbiased metagenomic sequencing was performed. Abundant nidovirus-like sequences were identified in cases and were used to assemble the genome of a previously unknown virus in the order Nidovirales. The nidoviruses, which were not previously known to infect nonavian reptiles, are a diverse order that includes important human and veterinary pathogens. The presence of the viral RNA was confirmed in all diseased animals (n = 8) but was not detected in healthy pythons or other snakes (n = 57). Viral RNA levels were generally highest in the lung and other respiratory tract tissues. The 33.5-kb viral genome is the largest RNA genome yet described and shares canonical characteristics with other nidovirus genomes, although several features distinguish this from related viruses. This virus, which we named ball python nidovirus (BPNV), will likely establish a new genus in Torovirinae subfamily. The identification of a novel nidovirus in reptiles contributes to our understanding of the biology and evolution of related viruses, and its association with lung disease in pythons is a promising step toward elucidating an etiology for this long-standing veterinary disease. Ball pythons are popular pets because of their diverse coloration, generally nonaggressive behavior, and relatively small size. Since the 1990s, veterinarians have been aware of an infectious respiratory disease of unknown cause in ball pythons that can be fatal. We used unbiased shotgun sequencing to discover a novel virus in the order Nidovirales that was

  10. Foetal haemoglobin and disease severity in sickle cell anaemia patients in Kampala, Uganda

    Directory of Open Access Journals (Sweden)

    Mpalampa Lena

    2012-09-01

    Full Text Available Abstract Background Sickle cell anaemia (SCA is a major chronic health problem in Uganda. In patients with SCA, the level of foetal haemoglobin (HbF has been found to be important in influencing the clinical course of the disease. Thus populations with high levels of HbF like those in Saudi Arabia have been described as having a milder clinical course with fewer complications as compared to populations with lower levels. Disease modifying drugs can increase the Hb F levels and modify the presentation of SCA. Methods This was a cross sectional study in which we determined foetal haemoglobin levels and examined the relationship between HbF levels and disease severity in SCA patients in Mulago Hospital, Kampala, Uganda. We consecutively enrolled 216 children aged 1 year to 18 years with SCA attending the Sickle Cell Clinic at Mulago Hospital whose guardians had given consent. The history included age at onset of initial symptoms and diagnosis, number of hospitalisations and blood transfusions and other complications of SCA (cardiovascular accidents, avascular hip necrosis and priapism. A detailed physical examination was performed to assess the current state and help describe the disease severity for each patient. Blood samples were drawn for HbF levels. HbF levels ≥10% was defined as high. Results Of the 216 children, (80 37% had HbF levels ≥10%. Significant correlations were observed between HbF level and several clinical parameters independent of age including age at diagnosis (p value 0.013, number of hospitalisations (p value 0.024 and transfusions (p value 0.018 since birth. Conclusion A third of the children with SCA attending the Sickle cell clinic in Mulago Hospital have high HbF levels. Higher HbF level is associated with later onset of symptoms and presentation, and less severe disease characterised by fewer hospitalisations and blood transfusions. We suggest HbF levels should be determined at initial contact for patients with SCA to

  11. Xmni polymorphism and disease severity in patients with beta thalassemia from northern Pakistan

    International Nuclear Information System (INIS)

    Hanif, T.B.; Ahmed, S.; Anwar, J.

    2015-01-01

    Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with ?-thalassemia from northern Pakistan. Methods: The cross sectional study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi, from September 2006 to June 2009. A total of 90 subjects including 30 with thalassemia major, 30 with thalassemia intermedia and 30 normal individuals were studied. DNA from each subject was tested for 15 ?-thalassemia mutations and the presence of XmnI polymorphism using Amplification Refractory Mutation System and Restriction Fragment Length Polymorphism respectively. Results: One normal and one thalassemia major subject were found to be positive for homozygous and heterozygous XmnI polymorphism respectively. Among the thalassemia intermedia group, XmnI polymorphism was found in 12/30 patients, of whom 10 were homozygous and 2 were heterozygous for it. Conclusion: XmnI polymorphism is an important genotypic factor in Pakistani population for making a prospective diagnosis of thalassemia intermedia and predicting the severity of the disease. (author)

  12. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

    Science.gov (United States)

    Shamseldin, Hanan E; Bennett, Alexis H; Alfadhel, Majid; Gupta, Vandana; Alkuraya, Fowzan S

    2016-02-01

    Golgi apparatus (GA) is a membrane-bound organelle that serves a multitude of critical cellular functions including protein secretion and sorting, and cellular polarity. Many Mendelian diseases are caused by mutations in genes encoding various components of GA. GOLGA2 encodes GM130, a necessary component for the assembly of GA as a single complex, and its deficiency has been found to result in severe cellular phenotypes. We describe the first human patient with a homozygous apparently loss of function mutation in GOLGA2. The phenotype is a neuromuscular disorder characterized by developmental delay, seizures, progressive microcephaly, and muscular dystrophy. Knockdown of golga2 in zebrafish resulted in severe skeletal muscle disorganization and microcephaly recapitulating loss of function human phenotype. Our data suggest an important developmental role of GM130 in humans and zebrafish.

  13. Diagnosis and treatment of dementia: 6. Management of severe Alzheimer disease.

    Science.gov (United States)

    Herrmann, Nathan; Gauthier, Serge

    2008-12-02

    The management of severe Alzheimer disease often presents difficult choices for clinicians and families. The disease is characterized by a need for full-time care and assistance with basic activities of daily living. We outline an evidence-based approach for these choices based on recommendations from the Third Canadian Consensus Conference on the Diagnosis and Treatment of Dementia. We developed evidence-based guidelines using systematic literature searches, with specific criteria for the selection and quality assessment of articles, and a clear and transparent decision-making process. We selected articles published from January 1996 to December 2005 that dealt with the management of severe Alzheimer disease. Subsequent to the conference, we searched for additional articles published from January 2006 to March 2008 using the same search terms. We graded the strength of the evidence using the criteria of the Canadian Task Force on Preventive Health Care. We identified 940 articles, of which 838 were selected for further study. Thirty-four articles were judged to be of at least good or fair quality and were used to generate 17 recommendations. Assessment of severe Alzheimer disease should include the measurement of cognitive function and the assessment of behaviour, function, medical status, nutrition, safety and caregiver status. Management could include treatment with a cholinesterase inhibitor or memantine, or both. Treatment of neuropsychiatric symptoms begins with nonpharmacologic approaches to addressing behavioural problems. Severe agitation, aggression and psychosis, which are potentially dangerous to the patient, the caregiver and others in the environment, can be treated with atypical antipsychotics, with consideration of their increased risk of cerebrovascular events and death. All pharmacologic approaches require careful monitoring and periodic reassessment to determine whether continued treatment is necessary. Caregiver support and use of community

  14. ADENOSINE DEAMINASE ACTIVITY AND SERUM C-REACTIVE PROTEIN AS PROGNOSTIC MARKERS OF CHAGAS DISEASE SEVERITY

    Directory of Open Access Journals (Sweden)

    Iván Darío BRAVO-TOBAR

    2015-10-01

    Full Text Available SUMMARY Chagas disease is a public health problem worldwide. The availability of diagnostic tools to predict the development of chronic Chagas cardiomyopathy is crucial to reduce morbidity and mortality. Here we analyze the prognostic value of adenosine deaminase serum activity (ADA and C-reactive protein serum levels (CRP in chagasic individuals. One hundred and ten individuals, 28 healthy and 82 chagasic patients were divided according to disease severity in phase I (n = 35, II (n = 29, and III (n = 18. A complete medical history, 12-lead electrocardiogram, chest X-ray, and M-mode echocardiogram were performed on each individual. Diagnosis of Chagas disease was confirmed by ELISA and MABA using recombinant antigens; ADA was determined spectrophotometrically and CRP by ELISA. The results have shown that CRP and ADA increased linearly in relation to disease phase, CRP being significantly higher in phase III and ADA at all phases. Also, CRP and ADA were positively correlated with echocardiographic parameters of cardiac remodeling and with electrocardiographic abnormalities, and negatively with ejection fraction. CRP and ADA were higher in patients with cardiothoracic index ≥ 50%, while ADA was higher in patients with ventricular repolarization disturbances. Finally, CRP was positively correlated with ADA. In conclusion, ADA and CRP are prognostic markers of cardiac dysfunction and remodeling in Chagas disease.

  15. Chronic nitrate enrichment decreases severity and induces protection against an infectious disease.

    Science.gov (United States)

    Smallbone, Willow; Cable, Jo; Maceda-Veiga, Alberto

    2016-05-01

    Excessive fertilisation is one of the most pernicious forms of global change resulting in eutrophication. It has major implications for disease control and the conservation of biodiversity. Yet, the direct link between nutrient enrichment and disease remains largely unexplored. Here, we present the first experimental evidence that chronic nitrate enrichment decreases severity and induces protection against an infectious disease. Specifically, this study shows that nitrate concentrations ranging between 50 and 250mgNO3(-)/l reduce Gyrodactylus turnbulli infection intensity in two populations of Trinidadian guppies Poecilia reticulata, and that the highest nitrate concentration can even clean the parasites from the fish. This added to the fact that host nitrate pre-exposure altered the fish epidermal structure and reduced parasite intensity, suggests that nitrate protected the host against the disease. Nitrate treatments also caused fish mortality. As we used ecologically-relevant nitrate concentrations, and guppies are top-consumers widely used for mosquito bio-control in tropical and often nutrient-enriched waters, our results can have major ecological and social implications. In conclusion, this study advocates reducing nitrate level including the legislative threshold to protect the aquatic biota, even though this may control an ectoparasitic disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. Severe cold lower limbs in patients with Parkinson’s disease during the summer

    Directory of Open Access Journals (Sweden)

    Hiroshi Kataoka

    2016-11-01

    Full Text Available Parkinson’s disease (PD is frequently associated with vasomotor symptoms such as distal cold limbs or sensitivity to cold. Coldness of the lower limbs (COL usually occurs in winter and is often accompanied by pain, potentially causing difficulty in walking or standing. A standard dopaminergic treatment for such symptoms is yet to be established. We describe two patients with PD, who had severe COL during summer. For example, the patients wore many pairs of socks or used heating appliances in the summer. Severe COL can occur in summertime and can be intolerable or unpleasant, since it can worsen disability. The treatment with a dopamine agonist did not sufficiently decrease the severity of COL.

  17. Functional promoter variant in zinc finger protein 202 predicts severe atherosclerosis and ischemic heart disease

    DEFF Research Database (Denmark)

    Frikke-Schmidt, R.; Nordestgaard, Børge; Grande, Peer

    2008-01-01

    Objectives This study was designed to test the hypotheses that single nucleotide polymorphisms ( SNPs), in zinc finger protein 202 ( ZNF202), predict severe atherosclerosis and ischemic heart disease ( IHD). Background ZNF202 is a transcriptional repressor controlling promoter elements in genes...... involved in vascular maintenance and lipid metabolism. Methods We first determined genotype association for 9 ZNF202 SNPs with severe atherosclerosis ( ankle brachial index >0.7 vs. ...,998 controls. Finally, we determined whether g. -660A>G altered transcriptional activity of the ZNF202 promoter in vitro. Results Cross-sectionally, ZNF202 g. -660 GG versus AA homozygosity predicted an odds ratio for severe atherosclerosis of 2.01 ( 95% confidence interval [CI]: 1.34 to 3.01). Prospectively...

  18. Factors responsible for formation of severity of inflammatory parodontal diseases in adolescent girls with menstrual dysfunction

    Directory of Open Access Journals (Sweden)

    Ye. A. Kliuchka

    2017-06-01

    Full Text Available Determining the factors of formation of severity of parodontal inflammatory diseases (PID in adolescent girls with menstrual dysfunction (MD makes it possible to determine the predictors of severity of PID and, on this basis, to develop differentiated methods for their prevention. The aim. To determine the factors responsible for formation of PID severity in adolescent girls with MD. The materials and methods. The following data were studied in adolescent girls with MD with varying severity of PID: obstetric and genealogical anamnesis, lifestyles of adolescents, indices of oral hygiene, dental status, densitometry, content of CA ++ and sIgA in saliva, lysozyme and urease activity in saliva, cytobiophysical potential of buccal epithelium nuclei. The findings. In patients with more severe course of PID, in comparison to milder course of PID, there was determined a more significant degree of weakened heredity in relation to chronic dental and somatic pathology, unfavorable course of pregnancy and childbirth, violations of a healthy lifestyle and oral hygiene in adolescents, anomalies in the development of dentoalveolar system, dysbiosis of oral cavity, reduced local and systemic immunoresistance. Conclusion: The determined predictors of the severity of PID in adolescent girls with MD make it possible to develop differentiated methods for their prevention.

  19. Study on the changes of serum HA and CG levels in several diseases besides liver disorders

    International Nuclear Information System (INIS)

    Lu Zhiping; Ma Yunbao; Zhang Xiaoyi; Lv Weihua

    2005-01-01

    Objective: To study the changes of serum hyaluronic acid (HA) and cholyglycine (CG) in several diseases besides liver disorders. Methods: Serum HA and CG levels were measured with RIA in 78 patients with chronic liver diseases (with 70 controls), (84 patients with primary hepatic carcinoma ), 70 pediatric patients with various infections diseases (with 40 controls), 50 pediatric patients with recurrent respiratory infection (RRI, with 30 controls) and 428 pregnant women ( with 60 controls). In addition, RBC C 3 b receptor ratio (RBCC 3 bRR) and RBC immune-complex ratio (RBCICR) (both with yeast rosette method) as well as serum IgG,IgM,IgA,C 3 levels (with immunoturbidity test) were examined in the 50 RRI pediatric patients, ALT levels were examined in the 70 pediatric patients with infectious diseases and SF examined in the 78 patients with chronic liver diseases. Results: The serum CG, HA and SF levels in the three groups of patients with chronic liver diseases ( CPH, CAH, Cirrhosis) were significantly higher than those in the controls (all P 0.05). In patients with hepatic carcinoma, the CG and HA levels were positively correlated with the mortality at 4 months (P 0.05). For ALT, levels only increased in patients with hepatitis and typhoid fever with none in bacillary dysentery and mumps. In pediatric patients with RRI, RBCC 3 bRR (%), CG, C 3 , IgG levels were significantly higher than those in controls (P 0.05). Conclusion: Various infectious diseases in pediatric patients could induce mild liver damage, which was closely related to the depressed immune status. High CG and HA levels in liver cancer patients suggested high mortality at 4 months. Women in late pregnancy might harbour disturbances in CG metabolism and mild liver injury though without overt symptoms. (authors)

  20. Does Family History of Obesity, Cardiovascular, and Metabolic Diseases Influence Onset and Severity of Childhood Obesity?

    Directory of Open Access Journals (Sweden)

    Domenico Corica

    2018-05-01

    Full Text Available ObjectivesThe objectives were to evaluate (1 the metabolic profile and cardiometabolic risk in overweight/obese children at first assessment, stratifying patients according to severity of overweight and age; and (2 to investigate the relationship between family history (FH for obesity and cardiometabolic diseases and severity of childhood obesity.MethodsIn this cross-sectional, retrospective, observational study, 260 children (139 female, aged between 2.4 and 17.2 years, with overweight and obesity were recruited. Data regarding FH for obesity and cardiometabolic diseases were collected. Each patient underwent clinical and auxological examination and fasting blood sampling for metabolic profile. Homeostasis model assessment of insulin resistance (HOMA-IR, triglyceride-to-high-density lipoprotein cholesterol ratio, and atherogenic index of plasma were calculated. To evaluate the severity of obesity, children were divided into two groups for BMI standard deviation (SD ≤2.5 and BMI SD >2.5. Moreover, study population was analyzed, dividing it into three groups based on the chronological age of patient (<8, 8–11, >11 years.ResultsBMI SD was negatively correlated with chronological age (p < 0.005 and significantly higher in the group of children <8 years. BMI SD was positively associated with FH for obesity. Patients with more severe obesity (BMI SD >2.5 were younger (p < 0.005, mostly prepubertal, presented a significantly higher HOMA-IR (p = 0.04, and had a significantly higher prevalence of FH for arterial hypertension, type 2 diabetes mellitus, and coronary heart disease than the other group.Conclusion(1 Family history of obesity and cardiometabolic diseases are important risk factors for precocious obesity onset in childhood and are related to the severity of obesity. (2 Metabolic profile, especially HOMA-IR, is altered even among the youngest obese children at first evaluation. (3 Stratification of obesity severity

  1. Alcohol misuse in patients with psoriasis: identification and relationship to disease severity and psychological distress.

    LENUS (Irish Health Repository)

    McAleer, M A

    2012-02-01

    BACKGROUND: Moderate to severe psoriasis is associated with increased alcohol intake and excessive mortality from alcohol-related causes. Alcohol biomarkers provide an objective measure of alcohol consumption. Carbohydrate-deficient transferrin (CDT) is the single most sensitive and specific alcohol biomarker. OBJECTIVES: To assess alcohol consumption in a cohort of patients with moderate to severe psoriasis using standard alcohol screening questionnaires and biomarkers. We investigated whether there was an association between alcohol intake, anxiety, depression and disease severity. METHODS: Consecutive patients with chronic plaque psoriasis were recruited and completed a range of anonymized assessments. Psoriasis severity, anxiety and depression, and the impact of psoriasis on quality of life were assessed. Alcohol screening questionnaires were administered. Blood specimens were taken and gamma-glutamyltransferase (gammaGT) and CDT were measured. RESULTS: A total of 135 patients completed the study. Using validated questionnaires, between 22% and 32% had difficulties with alcohol. Seven per cent had CDT > 1.6% indicating a heavy alcohol intake. The Alcohol Use Disorders Identification Test (AUDIT) questionnaire was superior to other validated questionnaires in detecting alcohol misuse. There were no significant associations between measures of excessive alcohol consumption and disease severity. Excessive alcohol intake as measured by the CAGE questionnaire was associated with increased depression (P = 0.001) but other measures of alcohol excess did not correlate with psychological distress. Men had significantly more difficulties with alcohol than women (P < 0.001). CONCLUSION: Alcohol misuse is common in patients with moderate to severe psoriasis. Screening with the AUDIT questionnaire and CDT may allow the identification of patients who are misusing alcohol and allow appropriate intervention.

  2. Laboratory markers of disease severity in Plasmodium knowlesi infection: a case control study

    Directory of Open Access Journals (Sweden)

    Willmann Matthias

    2012-10-01

    Full Text Available Abstract Background Plasmodium knowlesi malaria causes severe disease in up to 10% of cases in Malaysian Borneo and has a mortality rate of 1 - 2%. However, laboratory markers with the ability to identify patients at risk of developing complications have not yet been assessed as they have for other species of Plasmodium. Methods A case control study was undertaken in two hospitals in Sarikei and Sibu, Malaysian Borneo. One hundred and ten patients with uncomplicated (n = 93 and severe (n = 17 P. knowlesi malaria were studied. Standardized pigment-containing neutrophil (PCN count, parasite density and platelet counts were determined and analysed by logistic regression and receiver operating characteristic (ROC analysis. Results The PCN count was strongly associated with risk of disease severity. Patients with high parasite density (≥ 35,000/μl or with thrombocytopaenia (≤ 45,000/μl were also more likely to develop complications (odds ratio (OR = 9.93 and OR = 5.27, respectively. The PCN count yielded the highest area under the ROC curve (AUC estimate among all markers of severity (AUC = 0.8561, 95% confidence interval: 0.7328, 0.9794. However, the difference between all parameter AUC estimates was not statistically significant (Wald test, p = 0.73. Conclusion Counting PCN is labour-intensive and not superior in predicting severity over parasitaemia and platelet counts. Parasite and platelet counts are simpler tests with an acceptable degree of precision. Any adult patient diagnosed with P. knowlesi malaria and having a parasite count ≥35,000/μl or ≥1% or a platelet count ≤45,000/μl can be regarded at risk of developing complications and should be managed according to current WHO guidelines for the treatment of severe malaria.

  3. Clinical course of nonalcoholic fatty liver disease: an assessment of severity, progression, and outcomes

    Directory of Open Access Journals (Sweden)

    Simeone JC

    2017-12-01

    Full Text Available Jason C Simeone,1 Jay P Bae,2 Byron J Hoogwerf,3 Qian Li,1 Axel Haupt,3 Ayad K Ali,4 Marilyn K Boardman,3 Beth L Nordstrom1 1Real-world Evidence, Evidera, Waltham, MA, USA; 2Global Patient Outcomes and Real World Evidence, Eli Lilly and Company, Indianapolis, IN, USA; 3Lily Diabetes, Eli Lilly and Company, Indianapolis, IN, USA; 4Global Patient Safety, Eli Lilly and Company, Indianapolis, IN, USA Purpose: To identify the characteristics and initial disease severity of patients with nonalcoholic fatty liver disease (NAFLD and assess incidence and risk factors for disease progression in a retrospective study.Methods: Patients ≥18 years of age without alcoholism or other liver diseases (eg, hepatitis B/C were selected from Geisinger Health System electronic medical record data from 2004 to 2015. Initial disease stage was stratified into uncomplicated NAFLD, advanced fibrosis, cirrhosis, hepatocellular carcinoma (HCC, and liver transplant using clinical biomarkers, diagnosis, and procedure codes. Disease progression was defined as stage progression or death and analyzed via Kaplan–Meier plots and multistate models.Results: In the NAFLD cohort (N=18,754, 61.5% were women, 39.0% had type 2 diabetes mellitus (T2DM, and the mean body mass index was 38.2±10.2 kg/m2. At index, 69.9% had uncomplicated NAFLD, 11.7% had advanced fibrosis, and 17.8% had cirrhosis. Of 18,718 patients assessed for progression, 17.3% progressed (11.0% had stage progression, 6.3% died without evidence of stage progression during follow-up (median=842 days. Among subgroups, 12.3% of those without diabetes mellitus progressed vs 24.7% of those with T2DM. One-year mortality increased from 0.5% in uncomplicated NAFLD to 22.7% in HCC. After liver transplant, mortality decreased to 5.6% per year.Conclusions: In 2.3 years of follow-up, approximately 17% of patients progressed or died without evidence of stage progression. T2DM was associated with approximately twice the risk of

  4. Chronic obstructive pulmonary disease with lung cancer: Prevalence, severity, and common pathogenesis

    Directory of Open Access Journals (Sweden)

    Griffin JP

    2016-01-01

    Full Text Available Objectives: To develop a clinical prediction model of contribution of chronic obstructive pulmonary disease (COPD to the pathogenesis of lung cancer, by reporting the estimated prevalence and severity by GOLD criteria in a single-institution cohort of patients with newly diagnosed lung cancer. Primary objective was investigating the effects of impaired lung function with various histological cell types on crude survival, while considering the initial staging of disease extent. Materials & methods: A total of 441 patients, in this historical cohort from electronic medical records, completed spirometry prior to invasive diagnostic procedures and initial treatment of their lung cancer. All statistical analyses, including ANOVA and survival analysis, were performed using SAS version 9.1 software. Results: Estimated prevalence of COPD was 79.1% (95% confidence interval: 71.3%-82.9%. Lung function as measured by spirometry was a significant predictor of survival time in months (p<0.0001 both with and without adjusting for tumor-cell-type, age, and stage of disease. Median survival was similar (p=0.32 and longer among those patients with normal pulmonary function, those with restrictive disease patterns, and those with COPD–GOLD-1 defects. Median survival was shortest among patients with COPD–GOLD-4 impairment (p=0.001. Those patients with COPD–GOLD-2 and COPD-GOLD-3 impairment levels had intermediate survival times (p=0.003. Conclusions: This investigation suggests that strategies for early detection and slowing the progression of COPD before the development of lung cancer might increase patient survival. As demonstrated in this study, the presence and severity of COPD in lung cancer patients is an independent predictor of survival time, different from the established staging of initial extent of disease.

  5. Characterizing and Estimating Fungal Disease Severity of Rice Brown Spot with Hyperspectral Reflectance Data

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    Zhan-yu LIU

    2008-09-01

    Full Text Available Large-scale farming of agriculture crops requires real-time detection of disease for field pest management. Hyperspectral remote sensing data generally have high spectral resolution, which could be very useful for detecting disease stress in green vegetation at the leaf and canopy levels. In this study, hyperspectral reflectances of rice in the laboratory and field were measured to characterize the spectral regions and wavebands, which were the most sensitive to rice brown spot infected by Bipolaris oryzae (Helminthosporium oryzae Breda. de Hann. Leaf reflectance increased at the ranges of 450 to 500 nm and 630 to 680 nm with the increasing percentage of infected leaf surface, and decreased at the ranges of 520 to 580 nm, 760 to 790 nm, 1550 to 1750 nm, and 2080 to 2350 nm with the increasing percentage of infected leaf surface respectively. The sensitivity analysis and derivative technique were used to select the sensitive wavebands for the detection of rice brown spot infected by B. oryzae. Ratios of rice leaf reflectance were evaluated as indicators of brown spot. R669/R746 (the reflectance at 669 nm divided by the reflectance at 746 nm, the following ratios may be deduced by analogy, R702/R718, R692/R530, R692/R732, R535/R746, R521/R718, and R569/R718 increased significantly as the incidence of rice brown spot increased regardless of whether it's at the leaf or canopy level. R702/R718, R692/R530, R692/R732 were the best three ratios for estimating the disease severity of rice brown spot at the leaf and canopy levels. This result not only confirms the capability of hyperspectral remote sensing data in characterizing crop disease for precision pest management in the real world, but also testifies that the ratios of crop reflectance is a useful method to estimate crop disease severity.

  6. Static and dynamic hyperinflation during severe acute exacerbations of chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    van Geffen WH

    2018-04-01

    Full Text Available Wouter H van Geffen,1,2 Huib AM Kerstjens2 1Department of Respiratory Medicine, Medical Centre Leeuwarden, Leeuwarden, the Netherlands; 2Department of Pulmonary Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands Background: Static hyperinflation is known to be increased during moderate acute exacerbations of chronic obstructive pulmonary disease (COPD (AECOPD, but few data exist in patients with severe exacerbations of COPD. The role of dynamic hyperinflation during exacerbations is unclear. Methods: In a prospective, observational cohort study, we recruited patients admitted to hospital for AECOPD. The following measurements were performed upon admission and again after resolution (stable state at least 42 days later: inspiratory capacity (IC, body plethysmography, dynamic hyperinflation by metronome-paced IC measurement, health-related quality of life and dyspnea. Results: Forty COPD patients were included of whom 28 attended follow-up. The IC was low at admission (2.05±0.11 L and increased again during resolution by 15.6%±23.1% or 0.28±0.08 L (mean ± standard error of the mean, p<0.01. Testing of metronome-paced changes in IC was feasible, and it decreased by 0.74±0.06 L at admission, similarly to at stable state. Clinical COPD Questionnaire score was 3.7±0.2 at admission and improved by 1.7±0.2 points (p<0.01, and the Borg dyspnea score improved by 2.2±0.5 points from 4.4±0.4 at admission (p<0.01. Conclusion: Static hyperinflation is increased during severe AECOPD requiring hospitalization compared with stable state. We could measure metronome-paced dynamic hyperinflation during severe AECOPD but found no increase. Keywords: COPD, exacerbations of COPD, static hyperinflation, dynamic hyperinflation, severe acute exacerbations of COPD, COPD exacerbation, chronic obstructive pulmonary disease

  7. Prevalence and Severity of Oral Diseases in the Africa and Middle East Region.

    Science.gov (United States)

    Abid, A; Maatouk, F; Berrezouga, L; Azodo, C; Uti, O; El-Shamy, H; Oginni, A

    2015-07-01

    This review aims to determine the prevalence and severity of oral health diseases in the Africa and Middle East region (AMER). The profile of oral diseases is not homogeneous across the AMER. There are large disparities between groups. Reliable data are scarce. The prevalence and severity of oral diseases appear to be increasing in the African region, as does associated morbidity. There are substantial differences in inequalities in oral health. Dental caries prevalence is less severe in most African countries than in developed countries, but the high rate of untreated caries reflects the limited resources available and difficulties of access and affordability to essential oral health care services. The prevalence of gingival inflammation is very high in all age groups in several African countries. The prevalence of maxillofacial trauma has increased in many countries, with a wide variation of the incidence and high prevalence of traumatic dental injuries in primary and permanent teeth. Orofacial clefts are among the most common birth defects. Annual incidence of oral cancer is estimated as 25 cases per 100,000 people in Africa. Noma is a major public health problem for the Middle East and North African (MENA) region. Data about human immunodeficiency virus/AIDS are limited, particularly in the MENA region. According to the World Health Organization Regional Committee for Africa report, some fundamental key basic knowledge gaps need to be underlined. They include inequalities in oral health, low priority for oral health, lack of adequate funding, inadequate dental student training, obstacles to medical and dental research, and poor databases. There are very few effective public prevention and oral health promotion programs in the AMER. Universal health coverage is not achievable without scientific research on the effectiveness of health promotion interventions. © International & American Associations for Dental Research 2015.

  8. Socioeconomic deprivation does not influence the severity of Crohn's disease: Results of a prospective multicenter study.

    Science.gov (United States)

    Nahon, Stéphane; Lahmek, Pierre; Macaigne, Gilles; Faurel, Jean-Pierre; Sass, Catherine; Howaizi, Mehran; Fleury, Antoine; Baju, A; Locher, Christophe; Barjonet, Georges; Saillant, GillesGatineau; Moulin, Jean-Jacques; Poupardin, Cécile

    2009-04-01

    Socioeconomic deprivation is associated with poor health. The aims of this study were to evaluate the influence of deprivation in the characteristics and comparisons of deprived and nondeprived Crohn's disease (CD) patients. CD patients were prospectively recruited from September 2006 to June 2007 in 6 hospitals in the Paris area. To assess the level of deprivation we used the EPICES score (Evaluation of Precarity and Inequalities in Health Examination Centers; http://www.cetaf.asso.fr), a validated individual index of deprivation developed in France, a score >30 defining deprivation. We defined CD as severe when at least 1 of the conventionally predefined criteria of clinical severity was present. In all, 207 patients (128 women and 79 men, mean age 40 years) were included and had a median score of deprivation of 20.7 (0-100). Seventy-three (35%) were deprived. There were no statistical differences between deprived and nondeprived patients for the following parameters: 1) mean age: 39 +/- 14.6 versus 40.6 +/- 13.5, P = 0.4; 2) sex ratio (female/male): 87/47 (65%) versus 41/32 (56%), P = 0.2; 3) duration of disease (years) 9 +/- 8.8 versus 8.5 +/- 7.2, P = 0.7; 4) delay from onset of symptoms to diagnosis >1 year: 22/115 (19%) versus 13/63 (21%), P = 0.8; and 5) severity of disease 71% versus 70% (P = 0.9). Nondeprived patients had a lower rate of hospitalization (40 versus 56%, P = 0,04) and a higher rate of surgery (44 versus 22%, P = 0,004); the rate of surgery was only identified by logistic regression. In this study deprivation does not seem to influence the severity of CD. This can be explained by easy access to healthcare in France.

  9. Correlation of endoscopic severity of gastroesophageal reflux disease (gerd) with body mass index (bmi)

    International Nuclear Information System (INIS)

    Zafar, S.; Haq, I.U.; Butt, A.R.; Shafiq, F.; Huda, G.; Mirza, G.; Rehman, A.U.

    2007-01-01

    To assess the correlation of endoscopic severity of Gastroesophageal Reflux Disease (GERD) with Body Mass Index (BMI). This study was conducted on 203 patients, who presented with upper GI symptoms. Patients who fulfilled the symptom criteria were referred for endoscopy. Classification of GERD was done according to LA Grading classification system. Body mass index (BMI) was calculated as Body Weight (BW) in kilograms (kg) divided by the square of the body height (BH) in meter (m2). Patient data was analyzed using SPSS 12 software. Statistical evaluation was done using non-parametric Wilcoxon's-sign Rank test. P-value <0.05 was considered to be statistically significant. Distribution of GERD was as follows: GERD-A subjects 65 (32%), GERD B subjects 72 (35.4%), GERD-C subjects 23 (11.3%), GERD-D subjects 10 (4.92%), while Non-Erosive Reflux Disease (NERD) was present in 33 subjects (16.2%). Mean BMI was 27+5.02SD (range of 18.2-38.3). BMI of patients having NERD was in normal range but patients who were having advanced disease i.e. Grade C-D were in obese range of BMI, while those who were having LA grade A-B were in overweight BMI range. When regrouped as mild GERD (grade A-B) and NERD versus severe GERD (grade C-D), there was a strong significant correlation between severity of GERD and BMI, as detected by Wilcoxon's signed Rank test (p=0.001). Higher BMI seems to be associated with higher degree of endoscopic GERD severity. (author)

  10. Outcomes of Patients With Severe Chronic Lung Disease Who Are Undergoing Transcatheter Aortic Valve Replacement.

    Science.gov (United States)

    Suri, Rakesh M; Gulack, Brian C; Brennan, J Matthew; Thourani, Vinod H; Dai, Dadi; Zajarias, Alan; Greason, Kevin L; Vassileva, Christina M; Mathew, Verghese; Nkomo, Vuyisile T; Mack, Michael J; Rihal, Charanjit S; Svensson, Lars G; Nishimura, Rick A; O'Gara, Patrick T; Holmes, David R

    2015-12-01

    In this study, we sought to determine the clinical outcomes after transcatheter aortic valve replacement (TAVR) among patients with chronic lung disease (CLD) and to evaluate the safety of transaortic versus transapical alternate access approaches in patients with varying severities of CLD. Clinical records for patients undergoing TAVR from 2011 to 2014 in The Society of Thoracic Surgeons/American College of Cardiology Transcatheter Valve Therapy Registry were linked to Medicare hospital claims (n = 11,656). Clinical outcomes were evaluated across strata of CLD severity, and the risk-adjusted association between access route and post-TAVR mortality was determined among patients with severe CLD. In this cohort (median age, 84 years; 51.7% female), moderate to severe CLD was present in 27.7% (14.3%, moderate; 13.4%, severe). Compared with patients with no or mild CLD, patients with severe CLD had a higher rate of post-TAVR mortality to 1-year (32.3% versus 21.0%; adjusted hazard ratio [HR], 1.48; 95% confidence interval [CI], 1.31 to 1.66), as did those with moderate CLD (25.5%; adjusted HR, 1.16; 95% CI, 1.03 to 1.30). The adjusted rate of mortality was similar for transapical versus transaortic approaches to 1 year (adjusted HR, 1.17; 95% CI, 0.83 to 1.65). Moderate or severe CLD is associated with an increased risk of death to 1-year after TAVR, and among patients with severe CLD, the risk of death appears to be similar with either transapical or transaortic alternate-access approaches. Further study is necessary to understand strategies to mitigate risk associated with CLD and the long-term implications of these findings. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  11. Protein kinase C isoforms at the neuromuscular junction: localization and specific roles in neurotransmission and development.

    Science.gov (United States)

    Lanuza, Maria A; Santafe, Manel M; Garcia, Neus; Besalduch, Núria; Tomàs, Marta; Obis, Teresa; Priego, Mercedes; Nelson, Phillip G; Tomàs, Josep

    2014-01-01

    The protein kinase C family (PKC) regulates a variety of neural functions including neurotransmitter release. The selective activation of a wide range of PKC isoforms in different cells and domains is likely to contribute to the functional diversity of PKC phosphorylating activity. In this review, we describe the isoform localization, phosphorylation function, regulation and signalling of the PKC family at the neuromuscular junction. Data show the involvement of the PKC family in several important functions at the neuromuscular junction and in particular in the maturation of the synapse and the modulation of neurotransmission in the adult. © 2013 Anatomical Society.

  12. Postoperative effects of neuromuscular exercise prior to hip or knee arthroplasty

    DEFF Research Database (Denmark)

    Villadsen, Allan; Overgaard, Søren; Holsgaard-Larsen, Anders

    2014-01-01

    neuromuscular exercise prior to total joint arthroplasty (TJA) of the hip or knee did not confer additional benefits 3 months postoperatively compared with TJA alone. However, the intervention group experienced a statistically significant short-term benefit in ADL and pain, suggesting an earlier onset......OBJECTIVE: To investigate the postoperative efficacy of a supervised programme of neuromuscular exercise prior to hip or knee arthroplasty. METHODS: In this assessor-blinded randomised controlled trial, we included 165 patients scheduled for hip or knee arthroplasty due to severe osteoarthritis (OA......). An 8-week preoperative neuromuscular supervised exercise programme was delivered twice a week for 1 h as adjunct treatment to the standard arthroplasty procedure and compared with the standard arthroplasty procedure alone. The primary outcome was self-reported physical function measured...

  13. Severe hyponatraemia with absence of hyperkalaemia in rapidly progressive Addison's disease.

    Science.gov (United States)

    Thompson, Michael D; Kalmar, Eileen; Bowden, Sasigarn A

    2015-05-28

    We present a case of rapidly progressing Addison's disease in adrenal crisis with severe hyponatraemia and absence of hyperkalaemia in a 10-year-old girl. She presented with 2 weeks of vomiting, fatigue and weight loss. Her serum electrolytes obtained 1 week prior to presentation were normal, except for mild hyponatraemia at 131 mmol/L, which dropped to 112 mmol/L on admission. She had normal serum potassium, low-serum osmolality, with elevated urine sodium and osmolality, indistinguishable from syndrome of inappropriate antidiuretic hormone (SIADH). Subsequently, Addison's disease was diagnosed on the basis of gingival hyperpigmentation and undetectable cortisol on adrenocorticotropic hormone stimulation test. She rapidly responded to stress dose hydrocortisone, followed by hydrocortisone and fludrocortisone replacement therapy. The absence of hyperkalaemia in the presence of severe hyponatraemia cannot rule out Addison's disease in children. The mechanism of hypo-osmolar hyponatraemia in primary adrenal insufficiency and clinical clues to differentiate it from SIADH are discussed. 2015 BMJ Publishing Group Ltd.

  14. Correlation of hyponatremia with hepatic encephalopathy and severity of liver disease.

    Science.gov (United States)

    Qureshi, Muhammad Omar; Khokhar, Nasir; Saleem, Atif; Niazi, Tariq Khan

    2014-02-01

    To assess the frequency of low serum sodium levels and to correlate it with the severity of liver disease and hepatic encephalopathy (HE) in patients coming to the tertiary care hospital. Observational study. Shifa International Hospital, Islamabad, from January 2011 to January 2012. A total of 202 patients with hepatic encephalopathy and chronic liver disease had serum sodium measured. The HE was graded according to the West Haven classification (4 grades). Relationship of hyponatremia was correlated with severity grade of encephalopathy using Spearman rank correlation test. Out of 202 patients, 62 (30.7%) patients had serum sodium less than 130 meq/l. Out of 202, HE was present in 69 (34.15%) patients and out of these, 38 had grade III-IV HE and 31 had grade I - II HE. Out of 69 patients with HE 57 had sodium less than 135 (p liver disease. The existence of serum sodium concentration encephalopathy compared with patients with serum sodium concentration > 135 mmol/L.

  15. Reduced plasma taurine level in Parkinson's disease: association with motor severity and levodopa treatment.

    Science.gov (United States)

    Zhang, Li; Yuan, Yongsheng; Tong, Qing; Jiang, Siming; Xu, Qinrong; Ding, Jian; Zhang, Lian; Zhang, Rui; Zhang, Kezhong

    2016-01-01

    This study aimed to evaluate the level of taurine in plasma, and its association with the severity of motor and non-motor symptoms (NMS) and chronic levodopa treatment in Parkinson's disease (PD). Plasma taurine level was measured in treated PD (tPD), untreated PD (ntPD) and control groups. Motor symptoms and NMS were assessed using the Unified Parkinson's Disease Rating Scale, the short form of the McGill Pain Questionnaire, the Hamilton Depression Scale, the Scale for Outcomes in Parkinson's disease for Autonomic Symptoms and the Pittsburgh Sleep Quality Index. Longtime exposure to levodopa was indicated by its approximate cumulative dosage. The plasma taurine levels of PD patients were decreased when compared with controls and negatively associated with motor severity but not NMS. Moreover, tPD patients exhibited lower levels of plasma taurine than ntPD patients. Interestingly, plasma taurine levels negatively correlated with cumulative levodopa dosage in tPD. After controlling for potential confounders, the association between taurine and levodopa remained significant. Our study supports that taurine may play important roles in the pathophysiology of PD and the disturbances caused by chronic levodopa administration.

  16. Characterizing Alzheimer's disease severity via resting-awake EEG amplitude modulation analysis.

    Directory of Open Access Journals (Sweden)

    Francisco J Fraga

    Full Text Available Changes in electroencephalography (EEG amplitude modulations have recently been linked with early-stage Alzheimer's disease (AD. Existing tools available to perform such analysis (e.g., detrended fluctuation analysis, however, provide limited gains in discriminability power over traditional spectral based EEG analysis. In this paper, we explore the use of an innovative EEG amplitude modulation analysis technique based on spectro-temporal signal processing. More specifically, full-band EEG signals are first decomposed into the five well-known frequency bands and the envelopes are then extracted via a Hilbert transform. Each of the five envelopes are further decomposed into four so-called modulation bands, which were chosen to coincide with the delta, theta, alpha and beta frequency bands. Experiments on a resting-awake EEG dataset collected from 76 participants (27 healthy controls, 27 diagnosed with mild-AD, and 22 with moderate-AD showed significant differences in amplitude modulations between the three groups. Most notably, i delta modulation of the beta frequency band disappeared with an increase in disease severity (from mild to moderate AD, ii delta modulation of the theta band appeared with an increase in severity, and iii delta modulation of the beta frequency band showed to be a reliable discriminant feature between healthy controls and mild-AD patients. Taken together, it is hoped that the developed tool can be used to assist clinicians not only with early detection of Alzheimer's disease, but also to monitor its progression.

  17. HIV-1 Promoter Single Nucleotide Polymorphisms Are Associated with Clinical Disease Severity.

    Directory of Open Access Journals (Sweden)

    Michael R Nonnemacher

    Full Text Available The large majority of human immunodeficiency virus type 1 (HIV-1 markers of disease progression/severity previously identified have been associated with alterations in host genetic and immune responses, with few studies focused on viral genetic markers correlate with changes in disease severity. This study presents a cross-sectional/longitudinal study of HIV-1 single nucleotide polymorphisms (SNPs contained within the viral promoter or long terminal repeat (LTR in patients within the Drexel Medicine CNS AIDS Research and Eradication Study (CARES Cohort. HIV-1 LTR SNPs were found to associate with the classical clinical disease parameters CD4+ T-cell count and log viral load. They were found in both defined and undefined transcription factor binding sites of the LTR. A novel SNP identified at position 108 in a known COUP (chicken ovalbumin upstream promoter/AP1 transcription factor binding site was significantly correlated with binding phenotypes that are potentially the underlying cause of the associated clinical outcome (increase in viral load and decrease in CD4+ T-cell count.

  18. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

    Science.gov (United States)

    Birnkrant, David J; Bushby, Katharine; Bann, Carla M; Apkon, Susan D; Blackwell, Angela; Brumbaugh, David; Case, Laura E; Clemens, Paula R; Hadjiyannakis, Stasia; Pandya, Shree; Street, Natalie; Tomezsko, Jean; Wagner, Kathryn R; Ward, Leanne M; Weber, David R

    2018-01-01

    Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management. PMID:29395989

  19. Clinical features of neuromuscular disorders in patients with N-type voltage-gated calcium channel antibodies

    Directory of Open Access Journals (Sweden)

    Andreas Totzeck

    2016-09-01

    Full Text Available Neuromuscular junction disorders affect the pre- or postsynaptic nerve to muscle transmission due to autoimmune antibodies. Members of the group like myasthenia gravis and Lambert-Eaton syndrome have pathophysiologically distinct characteristics. However, in practice, distinction may be difficult. We present a series of three patients with a myasthenic syndrome, dropped-head syndrome, bulbar and respiratory muscle weakness and positive testing for anti-N-type voltage-gated calcium channel antibodies. In two cases anti-acetylcholin receptor antibodies were elevated, anti-P/Q-type voltage-gated calcium channel antibodies were negative. All patients initially responded to pyridostigmine with a non-response in the course of the disease. While one patient recovered well after treatment with intravenous immunoglobulins, 3,4-diaminopyridine, steroids and later on immunosuppression with mycophenolate mofetil, a second died after restriction of treatment due to unfavorable cancer diagnosis, the third patient declined treatment. Although new antibodies causing neuromuscular disorders were discovered, clinical distinction has not yet been made. Our patients showed features of pre- and postsynaptic myasthenic syndrome as well as severe dropped-head syndrome and bulbar and axial muscle weakness, but only anti-N-type voltage-gated calcium channel antibodies were positive. When administered, one patient benefited from 3,4-diaminopyridine. We suggest that this overlap-syndrome should be considered especially in patients with assumed seronegative myasthenia gravis and lack of improvement under standard therapy.

  20. Association of Tricuspid Regurgitation and Severity of Mitral Stenosis in Patients with Rheumatic Heart Disease

    International Nuclear Information System (INIS)

    Ahmed, R.; Kazmi, N.; Naz, F.; Malik, S.; Gillani, S.

    2016-01-01

    Background: Rheumatic heart disease is a common ailment in Pakistan and Mitral stenosis is its flag bearer Severity of mitral stenosis is the key factor in deciding for mitral valve surgery. Methods: This case series study was conducted at Ayub Teaching Hospital .Cases of Rheumatic heart disease with mitral stenosis were diagnosed clinically. 2D echocardiography was used to find severity of mitral stenosis. Data was entered into SPSS-17.0 and results were recorded and analysed. Pearsons two tailed correlation was used to find the correlation between presence of tricuspid regurgitation in patients with severe mitral stenosis, p was <0.05. Results: A total 35 patients with pure mitral stenosis were included in study, out of which 8 were male and 27 were females. Mean age in males was 34.5±15.85 years while in females it was 31±8 years. Twenty-two out of 35 (62.86 percent) patients had tricuspid regurgitation while 13 out 35 (37.14 percent) had no tricuspid regurgitation. Mean (MVA) mitral valve area in patients with tricuspid regurgitation was 0.84±0.3 cm/sup 2/ while mean (MVA) mitral valve area in patients without tricuspid regurgitation was 1.83±0.7 cm/sup 2/. Mean left atrial (L.A) size was 45.23±1.5mm/sup 2/ in patients with tricuspid regurgitation, while it was 44.13±6.14mm/sup 2/ in patients without tricuspid regurgitation. Mean RSVP was 57.5mmHg in patients with tricuspid regurgitation while RSVP could not be calculated in patients without tricuspid regurgitation. Conclusions: It was concluded that tricuspid regurgitation was strongly associated with severe mitral stenosis as almost all patients with severe mitral stenosis had tricuspid regurgitation and none of the patients with mild mitral stenosis had tricuspid regurgitation. (author)

  1. SEVERE (GRADE III-IV ACUTE GRAFT VERSUS HOST DISEASE AFTER ALLOGENEIC HAEMATOPOIETIC STEM CELL TRANSPLANTATION

    Directory of Open Access Journals (Sweden)

    Irena Preložnik-Zupan

    2002-09-01

    Full Text Available Background. Beside greater susceptibility to infections, acute graft host disease is a consequence of the activation of donor T-cells against host antigens. Most common target organs are skin, liver and intestinal mucosis.Methods. In the 6-year period between January 1995 and December 2000, 49 patients were treated with allogeneic haematopoietic stem cell transplantation (allo-HSCT in Transplant unit, Department of Hematology, Clinical Centre Ljubljana. The standard GVHD prophylaxis regimen consisted of cyclosporine and short-course methotrexate. Severe, grade III-IV aGVHD with skin and/or gastrointestinal and/or liver involvement appeared in 16 (32% of the 49 patients.Results. Among the 16 patients with severe aGVHD, 14 had liver involvement, ten gastrointestinal and eight skin involvement. One patient had skin involvement only, the rest of them had combined involvement of two or three organ systems. Routine first-line treatment for aGVHD, given to all 16 pts with severe forms of the disease, was methylprednisolone (MP 2mg/ kg. Six patients with predominant skin involvement responded to MP. Other ten patients with mainly liver and gastrointestinal involvement needed second or even third line aGVHD treatment. These were anti-thymocyte globulin (ATG and/or monoclonal antibodies (OKT3 and/or mycophenolate mofetil (MMF and/or FK506 (tacrolimus. Seven patients died of advanced aGVHD and treatment related infection.Conclusions. Based on our experiences, we conclude that in critically ill patients with severe aGVHD, neutropenia and high risk for opportunistic infection, each day of ineffective MP therapy may have fatal consequences. Simultaneous institution of a combination of corticosteroids and a second-line drug might prove more appropriate for patients with a severe form of aGVHD.

  2. Serum parameters predict the severity of ultrasonographicifndingsinnon-alcoholic fatty liver disease

    Institute of Scientific and Technical Information of China (English)

    Mohsen Razavizade; Raika Jamali; Abbas Arj; Hamidreza Talari

    2012-01-01

    BACKGROUND: Controversy exists about the correlation between liver ultrasonography and serum parameters for evaluating the severity of liver involvement in non-alcoholic fatty liver disease (NAFLD). This study was designed to determine the association between liver ultrasonography staging in NAFLD and serum parameters correlated with disease severity in previous studies; and set optimal cut-off points for those serum parameters correlated with NAFLD staging at ultrasonography, in order to differentiate ultrasonographic groups (USGs). METHODS: This cross-sectional study evaluated outpatients with evidence of NAFLD in ultrasonography referred to a general hospital. Those with positive viral markers, abnormal serum ceruloplasmin or gamma-globulin concentrations were excluded. A radiologist performed the ultrasonography staging and stratiifed the patients into mild, moderate, and severe groups. Fasting serum alanine aminotransferase (ALT), aspartate aminotransferase, alkaline phosphatase, triglyceride (TG), high and low density lipoprotein (HDL, LDL), and cholesterol were checked. RESULTS:Two hundred and forty-ifve patients with a mean age (±standard deviation) of 41.63(±11.46) years were included. There were no signiifcant differences when mean laboratory concentrations were compared between moderate and severe USGs. Therefore, these groups were combined to create revised USGs ("mild"versus"moderate or severe"). There were associations between the revised USGs, and ALT, TG, HDL levels, and diabetes mellitus [odds ratios=2.81 (95%conifdence interval (CI):1.37-5.76), 2.48 (95%CI:1.29-4.78), 0.36 (95%CI:0.18-0.74), and 5.65 (95%CI:2.86-11.16) respectively;all P values CONCLUSIONS: Serum ALT, TG, and HDL concentrations seem to be associated with the staging by liver ultrasonography in NAFLD. They might be used to predict the staging of liver ultrasonography in these patients.

  3. Serum IL-33 Is Elevated in Children with Asthma and Is Associated with Disease Severity.

    Science.gov (United States)

    Bahrami Mahneh, Sedigheh; Movahedi, Masoud; Aryan, Zahra; Bahar, Mohammad Ali; Rezaei, Arezou; Sadr, Maryam; Rezaei, Nima

    2015-01-01

    The role of IL-33, a member of the IL-1 family, in airway hyperresponsiveness and asthma has still to be fully understood. This study is aimed at investigating serum IL-33 in children with asthma and its association with asthma severity. This age- and sex-matched case-control study comprised 61 children with asthma and 63 healthy controls. The mean age of the participants was 9.21 years (range: 6-14). Serum IL-33 was measured using ELISA and was compared between children with asthma and controls. In addition, the association of serum IL-33 with asthma severity was investigated. The level of serum IL-33 was significantly higher in children with asthma than in controls (15.17 ± 32.3 vs. 0.61 ± 2.16 pg/ml; p = 0.028). It was significantly increased proportionately to asthma severity, namely 9.92 ± 30.26 pg/ml in children with mild asthma, 13.68 ± 29.27 pg/ml in children with moderate asthma and 31.92 ± 41.45 pg/ml in children with severe asthma (p = 0.026). Serum IL-33 is increased in children with asthma and is associated with disease severity. © 2016 S. Karger AG, Basel.

  4. The Severity of Fatty Liver Disease Relating to Metabolic Abnormalities Independently Predicts Coronary Calcification

    International Nuclear Information System (INIS)

    Lee, Ying-Hsiang; Wu, Yih-Jer; Liu, Chuan-Chuan; Hou, Charles Jia-Yin; Yeh, Hung-I.; Tsai, Cheng-Ho; Shih, Shou-Chuan; Hung, Chung-Lieh

    2011-01-01

    Background. Nonalcoholic fatty liver disease (NAFLD) is one of the metabolic disorders presented in liver. The relationship between severity of NAFLD and coronary atherosclerotic burden remains largely unknown. Methods and Materials. We analyzed subjects undergoing coronary calcium score evaluation by computed tomography (MDCT) and fatty liver assessment using abdominal ultrasonography. Framingham risk score (FRS) and metabolic risk score (MRS) were obtained in all subjects. A graded, semiquantitative score was established to quantify the severity of NAFLD. Multivariate logistic regression analysis was used to depict the association between NAFLD and calcium score. Results. Of all, 342 participants (female: 22.5%, mean age: 48.7 ± 7.0 years) met the sufficient information rendering detailed analysis. The severity of NAFLD was positively associated with MRS (X 2 = 6.12, trend P < 0.001) and FRS (X 2 = 5.88, trend P < 0.001). After multivariable adjustment for clinical variables and life styles, the existence of moderate to severe NAFLD was independently associated with abnormal calcium score (P < 0.05). Conclusion. The severity of NAFLD correlated well with metabolic abnormality and was independently predict coronary calcification beyond clinical factors. Our data suggests that NAFLD based on ultrasonogram could positively reflect the burden of coronary calcification

  5. Disease Severity Prediction by Spirometry in Adults with Visceral Leishmaniasis from Minas Gerais, Brazil.

    Science.gov (United States)

    Maia, Isabel A; Bezerra, Frank S; Albuquerque, André Luis Pereira de; Andrade, Heitor F; Nicodemo, Antonio C; Amato, Valdir S

    2017-02-08

    Visceral leishmaniasis (VL) is associated with interstitial pneumonitis according to histology and radiology reports. However, studies to address the functional impact on respiratory function in patients are lacking. We assessed pulmonary function using noninvasive spirometry in a cross-sectional study of hospitalized adult VL patients from Minas Gerais, Brazil, without unrelated lung conditions or acute infections. Lung conditions were graded as normal, restrictive, obstructive, or mixed patterns, according to Brazilian consensus standards for spirometry. To control for regional patterns of lung function, we compared spirometry of patients with regional paired controls. Spirometry detected abnormal lung function in most VL patients (70%, 14/20), usually showing a restrictive pattern, in contrast to regional controls and the standards for normal tests. Alterations in spirometry measurements correlated with hypoalbuminemia, the only laboratory value indicative of severity of parasitic disease. Abnormalities did not correlate with unrelated factors such as smoking or occupation. Clinical data including pulmonary symptoms and duration of therapy were also unrelated to abnormal spirometry findings. We conclude that the severity of VL is correlated with a restrictive pattern of lung function according to spirometry, suggesting that there may be interstitial lung involvement in VL. Further studies should address whether spirometry could serve as an index of disease severity in the management of VL. © The American Society of Tropical Medicine and Hygiene.

  6. Anti-actin IgA antibodies in severe coeliac disease.

    Science.gov (United States)

    Granito, A; Muratori, P; Cassani, F; Pappas, G; Muratori, L; Agostinelli, D; Veronesi, L; Bortolotti, R; Petrolini, N; Bianchi, F B; Volta, U

    2004-08-01

    Anti-actin IgA antibodies have been found in sera of coeliacs. Our aim was to define the prevalence and clinical significance of anti-actin IgA in coeliacs before and after gluten withdrawal. One hundred and two biopsy-proven coeliacs, 95 disease controls and 50 blood donors were studied. Anti-actin IgA were evaluated by different methods: (a) antimicrofilament positivity on HEp-2 cells and on cultured fibroblasts by immunofluorescence; (b) anti-actin positivity by enzyme-linked immuosorbent assay (ELISA); and (c) presence of the tubular/glomerular pattern of anti-smooth muscle antibodies on rat kidney sections by immunofluorescence. Antimicrofilament IgA were present in 27% of coeliacs and in none of the controls. Antimicrofilament antibodies were found in 25 of 54 (46%) coeliacs with severe villous atrophy and in three of 48 (6%) with mild damage (P < 0.0001). In the 20 patients tested, antimicrofilaments IgA disappeared after gluten withdrawal in accordance with histological recovery. Our study shows a significant correlation between antimicrofilament IgA and the severity of intestinal damage in untreated coeliacs. The disappearance of antimicrofilament IgA after gluten withdrawal predicts the normalization of intestinal mucosa and could be considered a useful tool in the follow-up of severe coeliac disease.

  7. [Severity classification of chronic obstructive pulmonary disease based on deep learning].

    Science.gov (United States)

    Ying, Jun; Yang, Ceyuan; Li, Quanzheng; Xue, Wanguo; Li, Tanshi; Cao, Wenzhe

    2017-12-01

    In this paper, a deep learning method has been raised to build an automatic classification algorithm of severity of chronic obstructive pulmonary disease. Large sample clinical data as input feature were analyzed for their weights in classification. Through feature selection, model training, parameter optimization and model testing, a classification prediction model based on deep belief network was built to predict severity classification criteria raised by the Global Initiative for Chronic Obstructive Lung Disease (GOLD). We get accuracy over 90% in prediction for two different standardized versions of severity criteria raised in 2007 and 2011 respectively. Moreover, we also got the contribution ranking of different input features through analyzing the model coefficient matrix and confirmed that there was a certain degree of agreement between the more contributive input features and the clinical diagnostic knowledge. The validity of the deep belief network model was proved by this result. This study provides an effective solution for the application of deep learning method in automatic diagnostic decision making.

  8. Palliative Senning in the Treatment of Congenital Heart Disease with Severe Pulmonary Hypertension

    Directory of Open Access Journals (Sweden)

    Juliano Gomes da Penha

    2015-01-01

    Full Text Available Background:Transposition of the great arteries (TGA is the most common cyanotic cardiopathy, with an incidence ranging between 0.2 and 0.4 per 1000 live births. Many patients not treated in the first few months of life may progress with severe pulmonary vascular disease. Treatment of these patients may include palliative surgery to redirect the flow at the atrial level.Objective:Report our institutional experience with the palliative Senning procedure in children diagnosed with TGA and double outlet right ventricle with severe pulmonary vascular disease, and to evaluate the early and late clinical progression of the palliative Senning procedure.Methods:Retrospective study based on the evaluation of medical records in the period of 1991 to 2014. Only patients without an indication for definitive surgical treatment of the cardiopathy due to elevated pulmonary pressure were included.Results:After one year of follow-up there was a mean increase in arterial oxygen saturation from 62.1% to 92.5% and a mean decrease in hematocrit from 49.4% to 36.3%. Lung histological analysis was feasible in 16 patients. In 8 patients, pulmonary biopsy grades 3 and 4 were evidenced.Conclusion:The palliative Senning procedure improved arterial oxygen saturation, reduced polycythemia, and provided a better quality of life for patients with TGA with ventricular septal defect, severe pulmonary hypertension, and poor prognosis.

  9. Ethnicity influences disease characteristics and symptom severity in allergic rhinitis patients in Malaysia.

    Science.gov (United States)

    Amini, Peyman; Abdullah, Maha; Seng, Lee Sing; Karunakaran, Thanusha; Hani, Norzhafarina; Bakar, Saraiza Abu; Latiff, Amir Hamzah Abdul; Fong, Seow Heng; Yeow, Yap Yoke

    2016-06-01

    The number of available reports regarding the influence of ethnicity on clinical features of allergic rhinitis (AR), especially disease severity in tropical climates, is limited. We aimed to compare clinical parameters and disease severity in AR patients of different ethnicities. Malay, Chinese, and Indian AR patients (n = 138) with confirmed sensitivity to Dermatophagoides pteronyssinus, Dematophagoides farinae, and Blomia tropicalis were tested for mite-specific immunoglobulin E (sIgE) levels. A detailed questionnaire was used to collect data on nasal symptom score (NSS), ocular symptom score (OSS), sum of symptoms score (SSS), quality of life score (QLS), symptomatic control score (SCS), and total sum of scores (TSS) and correlate the derived data with patients' demography, mite-polysensitivity, and sIgE levels. AR-related symptoms were most severe in Malays and least in Chinese (p Chinese. Duration of concurrent allergies was highest in Malays (p Chinese but correlated strongly with NSS, OSS, SSS, and TSS (r = 0408 to 0.898, p Chinese. © 2016 ARS-AAOA, LLC.

  10. The lung microbiome in moderate and severe chronic obstructive pulmonary disease.

    Directory of Open Access Journals (Sweden)

    Alexa A Pragman

    Full Text Available Chronic obstructive pulmonary disease (COPD is an inflammatory disorder characterized by incompletely reversible airflow obstruction. Bacterial infection of the lower respiratory tract contributes to approximately 50% of COPD exacerbations. Even during periods of stable lung function, the lung harbors a community of bacteria, termed the microbiome. The role of the lung microbiome in the pathogenesis of COPD remains unknown. The COPD lung microbiome, like the healthy lung microbiome, appears to reflect microaspiration of oral microflora. Here we describe the COPD lung microbiome of 22 patients with Moderate or Severe COPD compared to 10 healthy control patients. The composition of the lung microbiomes was determined using 454 pyrosequencing of 16S rDNA found in bronchoalveolar lavage fluid. Sequences were analyzed using mothur, Ribosomal Database Project, Fast UniFrac, and Metastats. Our results showed a significant increase in microbial diversity with the development of COPD. The main phyla in all samples were Actinobacteria, Firmicutes, and Proteobacteria. Principal coordinate analyses demonstrated separation of control and COPD samples, but samples did not cluster based on disease severity. However, samples did cluster based on the use of inhaled corticosteroids and inhaled bronchodilators. Metastats analyses demonstrated an increased abundance of several oral bacteria in COPD samples.

  11. Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.

    Science.gov (United States)

    Wadman, Renske I; Vrancken, Alexander F J E; van den Berg, Leonard H; van der Pol, W Ludo

    2012-11-13

    Spinal muscular atrophy (SMA) is pathologically characterized by degeneration of anterior horn cells. Recent observations in animal models of SMA and muscle tissue from patients with SMA suggest additional abnormalities in the development and maturation of the neuromuscular junction. We therefore evaluated neuromuscular junction function in SMA with repetitive nerve stimulation. In this case-control study, repetitive nerve stimulation was performed in 35 patients with SMA types 2, 3, and 4, 20 healthy controls, and 5 controls with motor neuron disease. Pathologic decremental responses (>10%) during 3-Hz repetitive nerve stimulation were observed in 17 of 35 patients (49%) with SMA types 2 and 3, but not in healthy controls or controls with motor neuron disease. None of the patients or controls had an abnormal incremental response of >60%. The presence of an abnormal decremental response was not specific for the type of SMA, nor was it associated with compound muscle action potential amplitude, clinical scores, or disease duration. Two of 4 patients with SMA type 3 who tried pyridostigmine reported increased stamina. These data suggest dysfunction of the neuromuscular junction in patients with SMA types 2 and 3. Therefore, drugs that facilitate neuromuscular transmission are candidate drugs for evaluation in carefully designed, placebo-controlled, clinical trials.

  12. Acrolein and Human Disease: Untangling the Knotty Exposure Scenarios Accompanying Several Diverse Disorders.

    Science.gov (United States)

    Burcham, Philip C

    2017-01-17

    Acrolein is a highly toxic electrophile that participates in many diseases, yet efforts to delineate its precise mechanistic contributions to specific conditions are complicated by its wide distribution within human environments. This Perspective develops the proposal that due to its mixed status as environmental pollutant, metabolic byproduct, and endotoxicant which forms via ubiquitous pathophysiological processes, many diseases likely involve acrolein released from multiple sources. Although the category boundaries are indistinct, at least four identifiable exposure scenarios are identifiable. First, in some syndromes, such as those accompanying chronic or acute intoxication with smoke, whatever role acrolein plays in disease pathogenesis mainly traces to exogenous sources such as the combustion of tobacco or other organic matter. A second exposure category involves xenobiotics that undergo metabolism within the body to release acrolein. Still other health conditions, however, involve acrolein that forms via several endogenous pathways, some of which are activated upon intoxication with xenobiotics (i.e., Exposure Category 3), while still others accompany direct physical trauma to body tissues (Exposure Category 4). Further complicating efforts to clarify the role of endogenous acrolein in human disease is the likelihood that many such syndromes are complex phenomena that resemble "chemical mixture exposures" by involving multiple toxic substances simultaneously. This Perspective contends that while recent decades have witnessed much progress in describing the deleterious effects of acrolein at the cellular and molecular levels, more work is needed to define the contributions of different acrolein sources to "real-world" health conditions in human subjects.

  13. Are c.436G>A mutations less severe forms of Lafora disease? A case report

    Directory of Open Access Journals (Sweden)

    Hélène-Marie Lanoiselée

    2014-01-01

    Full Text Available Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed. We report the case of a 23-year-old woman of Turkish origin with an unusual disease course. Clinical onset was at the age of 19 years with tonic–clonic seizures, followed by cognitive impairment; EEG was in favor of Lafora disease, and the mutation c.436G>A (a missense mutation substituting aspartic acid in asparagine in the NHLRC1 gene confirmed this diagnosis. After 5 years of evolution, the patient only has moderate cognitive impairment. Some NHLRC1 mutations, particularly c.436G>A, are associated with a slower clinical course, but there are conflicting data in the literature. This case strengthens the hypothesis that the c.436G>A mutation in the NHLRC1 gene leads to less severe phenotypes and late-onset disease.

  14. Percutaneous intervention for infrainguinal occlusive disease in women: equivalent outcomes despite increased severity of disease compared with men.

    Science.gov (United States)

    DeRubertis, Brian G; Vouyouka, Angela; Rhee, Soo J; Califano, Joseph; Karwowski, John; Angle, Niren; Faries, Peter L; Kent, K Craig

    2008-07-01

    Experience with open surgical bypass suggests similar overall outcomes in women compared with men, but significantly increased risk of wound complications. Percutaneous treatment of lower extremity occlusive disease is therefore an attractive alternative in women, although it is not clear whether there is a difference in outcomes between women and men treated with this technique. We sought to determine the results and predictors of failure in women treated by percutaneous intervention. Percutaneous infrainguinal revascularization was performed on 309 women between 2001 and 2006. Procedures, complications, demographics, comorbidities, and follow-up data were entered into a prospective database for review. Patency was assessed primarily by duplex ultrasonography. Outcomes were expressed by Kaplan-Meier curves and compared by log-rank analysis. A total of 447 percutaneous interventions performed in 309 women were analyzed and compared with 553 interventions in men. Mean age in women was 73.2 years; comorbidities included hypertension (HTN) (86%), diabetes melitus (DM) (58%), chronic renal insufficiency (CRI) (15%), hemodialysis (7%), hypercholesterolemia (52%), coronary artery disease (CAD) (42%), and tobacco use (47%). Indications in women included claudication (38.0%), rest pain (18.8%), and tissue loss (43.2%). Overall primary & secondary patency and limb-salvage rates for women were 38% +/- 4%, 66% +/- 3%, and 80% +/- 4% at 24 months. In this patient sample, women were significantly more likely than men to present with limb-threatening ischemia (61.6% vs 47.3%, P diabetes, and advanced TASC severity lesions were at increased risk of failure overall, there were no differences between women and men with these characteristics. Percutaneous infrainguinal revascularization is a very effective modality in women with lower extremity occlusive disease. Although women in this sample were more likely to present with limb-threat than men, patency and limb-salvage rates were

  15. Cytokine profiles at birth and the risk of developing severe respiratory distress and chronic lung disease

    Directory of Open Access Journals (Sweden)

    Majeda S Hammoud

    2017-01-01

    Full Text Available Background: Neonates with the diagnosis of respiratory distress syndrome (RDS were studied to investigate possible associations between cytokine levels at birth and developing severe RDS or chronic lung disease (CLD. Materials and Methods: This was a cross-sectional study on serum and bronchoalveolar lavage (BAL samples collected within hours of birth from infants with moderate and severe RDS. Twenty infants with moderate RDS and 20 infants with severe RDS were studied. RDS was diagnosed on the basis of radiographic findings, respiratory distress, and an increasing oxygen requirement. RDS severity was graded based on the radiological findings and Downe's Score. CLD was diagnosed when infants were still on supplemented O2by at least 28 days of age. Levels of the cytokines interleukin (IL-1β, IL-6, IL-8, IL-10, and tumor necrosis factor alpha were measured using enzyme-linked immunosorbent assay. “Statistical analysis was performed using the SPSS for Windows, (SPSS Inc., Chicago, IL, USA.” Results: Levels of the proinflammatory cytokines IL-8 and IL-1β were significantly higher in BAL of infants with severe RDS than those with moderate RDS (P = 0.007 and P= 0.02, respectively. IL-8 levels were also significantly higher in BAL and serum of infants who later progressed to CLD than in those who did not (P = 0.03 for both. The IL-8/IL-10 cytokine ratio was significantly higher in the BAL of severe RDS infants than in moderate RDS (P = 0.01 and in the serum of infants who progressed to CLD than in those who did not (P = 0.03. Conclusion: Levels of IL-8 and the IL-8/IL-10 ratio measured soon after birth were associated with severity of RDS as well as progression to CLD. Early measurement of cytokines levels and ratios may contribute to the prognosis and management of RDS and CLD.

  16. Napier grass stunt disease prevalence, incidence, severity and genetic variability of the associated phytoplasma in Uganda

    DEFF Research Database (Denmark)

    Kawube, Geofrey; Talwana, Herbert; Nicolaisen, Mogens

    2015-01-01

    The prevalence, incidence and severity of Napier grass stunt disease (NGSD) caused by phytoplasma on Pennisetum purpureum, the main fodder for livestock under intensive and semi-intensive management systems in Uganda were determined following a field survey carried out in 17 districts. A total...... of 298 Napier grass fields were visited and NGSD status visually assessed and 1192 samples collected for identification and confirmation of the phytoplasma by polymerase chain reaction (PCR) assays using universal primers P1/P6 nested with R16F2n/R16R2n and, tuf primers 890/340 nested with 835 and 400....... From these, 221 PCR products were sequenced and sequences aligned. Napier grass stunt disease is widely spread at an epidemic proportion, with the districts at different risk levels. The most affected districts are in central, East and North parts of the country while those in the west are least...

  17. Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

    International Nuclear Information System (INIS)

    Pena, Andres H.; Clevac, Egor; Marie Cahill, Anne; Kaplan, Paige; Ganesh, Jaya

    2009-01-01

    A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone marrow suppression, splenic artery embolization was chosen as an alternative to splenectomy. Splenic artery embolization was performed using 355-500-μm polyvinyl alcohol particles, with 70% ablation achieved. Within 24 h of the procedure the platelet count had risen to greater than 70,000/mm 3 and to more than 170,000/mm 3 on postoperative day 4. At the 8-month follow-up the splenic size had decreased from 18 cm to 8 cm, with a platelet count of 578,000/mm 3 . Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression. (orig.)

  18. Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia

    Energy Technology Data Exchange (ETDEWEB)

    Pena, Andres H.; Clevac, Egor; Marie Cahill, Anne [Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Kaplan, Paige; Ganesh, Jaya [Children' s Hospital of Philadelphia, Division of Metabolic Diseases, Philadelphia, PA (United States)

    2009-09-15

    A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone marrow suppression, splenic artery embolization was chosen as an alternative to splenectomy. Splenic artery embolization was performed using 355-500-{mu}m polyvinyl alcohol particles, with 70% ablation achieved. Within 24 h of the procedure the platelet count had risen to greater than 70,000/mm{sup 3} and to more than 170,000/mm{sup 3} on postoperative day 4. At the 8-month follow-up the splenic size had decreased from 18 cm to 8 cm, with a platelet count of 578,000/mm{sup 3}. Partial splenic embolization provides a minimally invasive alternative to splenectomy in patients with Gaucher disease with massive splenomegaly and bone marrow suppression. (orig.)

  19. Frequency of the severe combined immunodeficiency disease gene among horses in Morocco.

    Science.gov (United States)

    Piro, M; Benjouad, A; Tligui, N S; El Allali, K; El Kohen, M; Nabich, A; Ouragh, L

    2008-09-01

    Severe combined immunodeficiency disease (SCID) of horses is an autosomal, recessive hereditary disease occurring among Arabian or crossbred Arabian horses. The genetic defect responsible was previously identified as a 5-base pair deletion in the gene encoding the catalytic subunit of the DNA dependant protein kinase (DNA-PKcs). This study was carried out to determine the frequency of SCID and identify horses carrying the gene for SCID among Arabian and Arabian crossbred stallions and mares in Morocco using a DNA-based test. Twenty-one horses were SCID carriers: 14 (7%) Arabians, 6 (4%) Arab-Barbs and one (33%) Anglo-Arab. After analysing their genealogy, 3 imported stallions were identified that disseminated the mutant gene of DNA-PKcs in Morocco.

  20. Sugammadex use in difficult intubation due to ankylosing spondylitis and severe restrictive respiratory disease

    Directory of Open Access Journals (Sweden)

    Yakup Tomak

    2012-09-01

    Full Text Available We describe anesthesia management of a 50-year-old man scheduled for thoracic spinal reconstruction, presenting with severe restrictive respiratory disease and difficult airway due to ankylosing spondilitis. The patient was unable to extend his head, had difficulty in breathing and sleeping in supine position due to thoracal deformities. The patient was intubated using intubating laryngeal mask airway to overcome the difficulties of limited mouth opening and head extension. He was extubated following administration of sugammadex to obtain optimal conditions in terms of respiratory muscle function and to prevent hypersecretion and bronchospasm. J Clin Exp Invest 2012; 3 (3: 398-400Key words: Restrictive lung disease, airway management, laryngeal masks, sugammadex, ankylosing spondylitis

  1. Blood dendritic cell frequency declines in idiopathic Parkinson's disease and is associated with motor symptom severity.

    Science.gov (United States)

    Ciaramella, Antonio; Salani, Francesca; Bizzoni, Federica; Pontieri, Francesco E; Stefani, Alessandro; Pierantozzi, Mariangela; Assogna, Francesca; Caltagirone, Carlo; Spalletta, Gianfranco; Bossù, Paola

    2013-01-01

    The role of inflammation in Parkinson's Disease (PD) is well appreciated, but its underlying mechanisms are still unclear. Our objective was to determine whether dendritic cells (DC), a unique type of migratory immune cells that regulate immunological response and inflammation have an impact on PD. In a case-control study including 80 PD patients and 80 age- and gender-matched healthy control subjects, the two main blood subsets of plasmacytoid and myeloid DC were defined by flow cytometry analysis. Clinical evaluation of subjects consisting of cognition and depression assessment was performed using the Mini Mental State Examination and the Beck Depression Inventory. The severity of motor symptoms was measured using the Unified Parkinson's Disease Rating Scale-Part III. Comparison between patient and control DC measures and their relationships with clinical assessments were evaluated.The following main results were obtained: 1) the level of circulating DC (mainly the myeloid subset) was significantly reduced in PD patients in comparison with healthy controls; 2) after controlling for depressive and cognitive characteristics, the frequency of myeloid DC was confirmed as one of the independent determinants of PD; 3) the number of both myeloid and plasmacytoid DC was negatively associated with motor symptom severity. Overall, the decline of blood DC, perhaps due to the recruitment of immune cells to the site of disease-specific lesions, can be considered a clue of the immune alteration that characterizes PD, suggesting innovative exploitations of DC monitoring as a clinically significant tool for PD treatment. Indeed, this study suggests that reduced peripheral blood DC are a pathologically-relevant factor of PD and also displays the urgency to better understand DC role in PD for unraveling the immune system contribution to disease progression and thus favoring the development of innovative therapies ideally based on immunomodulation.

  2. Blood dendritic cell frequency declines in idiopathic Parkinson's disease and is associated with motor symptom severity.

    Directory of Open Access Journals (Sweden)

    Antonio Ciaramella

    Full Text Available The role of inflammation in Parkinson's Disease (PD is well appreciated, but its underlying mechanisms are still unclear. Our objective was to determine whether dendritic cells (DC, a unique type of migratory immune cells that regulate immunological response and inflammation have an impact on PD. In a case-control study including 80 PD patients and 80 age- and gender-matched healthy control subjects, the two main blood subsets of plasmacytoid and myeloid DC were defined by flow cytometry analysis. Clinical evaluation of subjects consisting of cognition and depression assessment was performed using the Mini Mental State Examination and the Beck Depression Inventory. The severity of motor symptoms was measured using the Unified Parkinson's Disease Rating Scale-Part III. Comparison between patient and control DC measures and their relationships with clinical assessments were evaluated.The following main results were obtained: 1 the level of circulating DC (mainly the myeloid subset was significantly reduced in PD patients in comparison with healthy controls; 2 after controlling for depressive and cognitive characteristics, the frequency of myeloid DC was confirmed as one of the independent determinants of PD; 3 the number of both myeloid and plasmacytoid DC was negatively associated with motor symptom severity. Overall, the decline of blood DC, perhaps due to the recruitment of immune cells to the site of disease-specific lesions, can be considered a clue of the immune alteration that characterizes PD, suggesting innovative exploitations of DC monitoring as a clinically significant tool for PD treatment. Indeed, this study suggests that reduced peripheral blood DC are a pathologically-relevant factor of PD and also displays the urgency to better understand DC role in PD for unraveling the immune system contribution to disease progression and thus favoring the development of innovative therapies ideally based on immunomodulation.

  3. Antinuclear antibody levels in Polymorphic Light Eruption and their relation to the severity of disease

    Directory of Open Access Journals (Sweden)

    Iffat Hassan

    2012-10-01

    Full Text Available Introduction: PLE is an idiopathic photodermatosis characterised by a polymorphic eruption ranging from papulo-vesicular lesions to large plaques, located predominantly in a photoexposed distribution. It is an